 Simply beautiful! “If there was a way me and my husband could switch places with her, we would. We say it all the time. We love her so much it honestly hurts. I have even said ‘I wish I didn’t love her so much, because it would make this all easier.”’ ~Christin Ulrich~ Veda’s Mom and Advocate I repeat myself often when writing about the kids that battle. I do this in order to place an emphasis on the things that I feel are important to talk about. It is true that many of the things that I write about are common among what is experienced by all of these families. In the beginning, it all began with one little girl. There were a lot of people that followed her journey on social media and I suppose that many found their way to her in different ways and for different reasons. Mine was a very roundabout way as rare diseases weren’t something that was on my radar so to speak. I was, and still am, a parent of a young adult with special needs but I am not one who has a child that suffers from a lysosomal storage disorder. I didn’t know what that was. It was through following the legacy of a Navy SEAL that I would be introduced to the one who made me aware. She had a disorder that was named Batten disease and to me and many others, she was just beautiful. Many were moved by her plight because the disease that she had was fatal and there was no cure. I began to write through a series of circumstances and kids with Batten became my focus. Over time, I would add to these dear children, kids that battled something named Mucopolysaccharidoses. This disease is more easily spoken of using three letters, MPS. Through my writing, I would learn more about how the cells in our bodies function and what happens when a child has a lysosomal storage disorder. Kids with MPS have this type of a disease, just as kids with Batten disease do! Within the cells in our bodies are something named a lysosome. A lysosome is a small structure known as an organelle and they have a specific function. A lysosome contains digestive enzymes that break down excess or worn-out cell parts. They may also be used to destroy invading viruses and bacteria. If through a genetic disposition, these enzymes are missing in the lysosomes, the cells of the brain and body store up wastes instead of them being disposed of. I’ve read that there are almost 50 of these diseases with more storage disorders being identified as time continues. Think about the impact that this can have on the health of a developing child and also how a family is affected when a condition like this is present. The defective genes that create this type of a condition are inherited from the child’s parents who have no idea that they are a carrier of the defective gene. The situation is not known at the time of the child’s birth and early development but things change over time. The joy of receiving a child into the world is experienced by the parents and close family members as everyone looks on and early milestones are reached. There are all the early events that will be witnessed and remembered, many for a lifetime. And then, things begin to go wrong. At first, a couple of things may be noticed but a connection is not made to an incurable disease. Perhaps a child doesn’t sleep through the night or there is a behavioral issue that appears. These things may make life more difficult but they are problems that one would think could be overcome over time.  However, things get worse as time continues because of the effects of a disease not known of. They soon begin to reveal themselves as the parents wonder. A search for answers then begins. This search is sometimes long and difficult. Other times, an answer is found more quickly. Life has to go on regardless of the time it takes to find that answer. That is to find out what is taking place with your child. Work and life continues and in the back of your mind remains thoughts that bring with them anxious feelings. Soon, or much later, news of a diagnosis is received and with that comes pain and great dismay. Life has changed and it will never be the same again. You’ve been told that you have a child that has a disease for which there is no cure and that this disease is fatal.This writer is a parent to a young adult with special needs as my son has a condition named PACS2 syndrome. We’ve experienced many things over the years but anything that we have been through as a family pales in comparison. That is to what is experienced by a family who is given the news that their child has a disease that is fatal and for which there is no cure. There should be, and most often is, an outpouring of love and great respect for these families. Most people live with the expectation that they will see all of the normal events that take place in a child’s life. Kids normally grow into adulthood and experience the things that come with each stage of their lives. Parents will look on with pride and satisfaction as their child’s goals are achieved. So much of that is stripped away when a family is given this news. Instead a battle begins. It is a battle for the child, obviously. Life also becomes a battle for the parents and other loved ones who have to deal with this type of adversity. So many things are dealt with physically and on an emotional level. More so than most people can understand. I would get drawn into the details emotionally at the beginning of my writing. I would even set off those emotions by the words I would choose as I put them into type. I would however, have to admit that the stories would become a matter of fact over time. This, even though each child would gain a piece of my heart. And still, it is easy to get drawn in at certain times when the circumstances are such that they move you through the details. Such was the case when I read through the information sent to me by the mom of the little girl who I will write about now. Each story that I’ve been able to help put into words has been a privilege to write. There have been several moms over the course of my writing that are capable writers on their own and I think that this mom would fit into that category. She would actually tell me, “I’m not great with words, so to have this done means a lot to us.” I don’t know that I can agree with her self-assessment on writing and I really do appreciate this opportunity. Let’s get started! That Special Someone  Nice looking couple. Yes? Christin Conner was a single mom, working her way through life while raising her little girl. She wanted the best for herself and her 2 year old daughter Elise, even as she worked in retail at the Home Depot. As it often happens, Christin would meet a man not knowing that he would one day be the person for her. She recalls telling Jericho Ulrich that he had a cool name and in fact, he did! Jericho was the strong and silent type and he simply said “thanks'' in return.That was all that there was to that first encounter as they parted ways. There was no reason to believe that there would be any contact to follow but Christin had Jericho’s attention. It would be a few months later that Jericho would send Christin a message while on a dating website that they both used. They talked to one another using the website for about a month before going on their first date together. Once together, they would hit it off right away and would go out together again the very next day. Christin and Jericho dated for a while and they both knew that their future would be spent together. With this, they decided to move in with each other. Christin had ambitions beyond working in retail and she would start school to train as an ultrasound technician. Jericho was good in a shop setting and would begin to work as a machinist. Life continued on and the two of them were happy together. One weekend, Jericho had taken Christin to a wildlife preserve that was filled with wolves and foxes. Christin stated that this was “magical and unexpected” but there would be more to come. Jericho knew that they had a good thing going and that he wanted this for a lifetime with Christin. He would propose to her during Christin’s Birthday weekend in Panama Beach Florida on the Gulf of Mexico. You would probably agree, that sounds kind of romantic! Jericho was the type that would welcome the opportunity to one day have Elise as his daughter. Her biological father had been absent from Elise’s life and Jericho wanted to adopt her. The couple would get legally married at the courthouse soon in order to expedite Jericho’s adoption of little Elise. That day would be the 11th of January in 2018. This was just an informal gathering with Jericho’s mom and Elise being present with Jericho and Christin. The couple wouldn’t settle on this type of a wedding. They wanted more and would have a barn wedding with Christin’s Aunt Rae officiating the big event. This would take place in Osteen, Florida on January the 11th of 2019. What a great day for a wedding! Christin had lost her father when she was 17 years old and so it was her Pawpaw that gave her away to be married during the ceremony. He was a special man in Christin’s life! Jericho and Christin would have their honeymoon in the Bahamas, at both St. Thomas and St. Martin. The couple would return to resume normal life after a wonderful time spent together. They were official, man and wife and they were set for a life spent together. That life would include being a family. Elise was begging for a baby sister to play with and having a sibling for her was part of her parents plans.  Rough start. Jericho and Christin had wanted a child together for some time. In fact, they had wanted three children all together. Married in January, Christin would become pregnant by March and it seemed that everything was falling into place for this little family. Christin’s pregnancy would go smoothly overall. She did have a high blood pressure reading during one of her doctor appointments and testing would be performed to make sure that she didn’t have pre-eclampsia. That was found to not be the case and Christin’s pregnancy would otherwise take place without any difficulties. The months would go by as life continued and the big event would soon be on the horizon. Christin would soon be ready to deliver her baby and she would be able to do so at the very hospital that she worked at. That being Advent Health hospital in Daytona Beach, Florida. In fact, her baby was scheduled to be delivered by one of her favorite doctors. Her OB GYN was Doctor Megan Bagwell and Christin was grateful to have her as her physician. The big day would be December the 9th of 2019 and both Christin and Jericho were excited for the event to take place. The plan was that Christin’s labor would be induced and she was scheduled to check into the hospital at 5 a.m. As is often the case though, anything can happen during a baby’s delivery. Christin stated that her baby’s delivery would turn out to be a “whirlwind” of events. That however, was not what they had anticipated that it would be. Jericho worked a graveyard shift as a machinist and was planning on going into work and leaving early the morning of the delivery. Christin stated that she was having irregular contractions the day before on the 8th and that Jericho was hesitant to go to work that night. He was thinking that they should perhaps go to the hospital right then but in the end, it was decided that he should go to work. The contractions weren’t coming and going at that time as they should have been. Hindsight is always 20/20, as they say, and things would change as Christin was in bed. Jericho was in work at 10pm and by midnight the contractions were 5 minutes apart. Christin called Jericho and they would soon be on their way. This little baby was not sticking to the plan! Christin’s sister would watch Elise as the couple drove from Palm Coast to the hospital in Daytona and the ride there was an uncomfortable one. Once they arrived, Christin was given an epidural which would slow things down a little. Along with Jericho in the delivery room were Christin’s mother-in-law, and her cousin Amanda who is a photographer. This was a big occasion and it was a good thing to have her there. Little did Christin and Jericho know but that there would be more to take place than what was expected. Christin shared with me that her first delivery with her daughter Elise was a difficult one. Elise had been rushed away to NICU right away and Christin didn’t get to see her until the very next day. This was traumatizing to her as she had missed out on that first contact with her new daughter. She was hoping for a better result this time around. Building a Family Things would not go quite as hoped. Christin was able to push her baby’s head out but then a problem arose. This little one was experiencing something called shoulder dystocia. Simply put, one or both of her baby’s shoulders were stuck and so was the delivery. Before Christin knew it, she was surrounded by nurses and one of them was even on the delivery table with her. This could have created a real panic situation for Christin but Doctor Megan, along with everyone else, handled the situation in a very professional and reassuring manner. Christin continues, “At this moment I completely give credit to my doctor. I looked at her and she looked me in my eyes and as calm as she could she said ‘Christin, I need you to give me the biggest, longest push you can. ‘Push’ and as I pushed, the nurse that was in the bed with me pushed as hard as she could on my abdomen ....”. With that, Christin and Jericho had another daughter. This one, they were able to bring into the world together but they would have to wait to hold their baby girl. Again, Christin would have to watch as her child was taken to NICU. Not only had there been the situation with their little girl’s delivery but she also had something called meconium aspiration. This can happen when a newborn breathes a mixture of meconium and amniotic fluid into the lungs around the time of delivery. This condition is serious, even sometimes leading to the loss of an infant. The need to get this baby to NICU was real.  Precious little one! The baby wasn’t making a sound upon delivery, and in that moment, this caused Christin to nearly burst into tears. Again, she was reassured that all would be okay. Maybe only by coincidence, or not, one nurse would blurt out, “Look at all that red hair” and with that, Jericho looked at Christin and they both had a little laugh together. You see, Christin liked redheads but Jericho not so much. He did not want a baby with red hair but I think that just having a healthy baby would have been all that mattered at that moment. The baby would let out a big cry as they laughed together. Everything was okay but again, Christin would have to wait to hold her baby girl. This beautiful baby was named Veda Rae. She was oh, so special to her mom and dad and she was flawlessly beautiful in appearance. Elise would have the little sister that she wanted but it would take a little while extra to get this baby home. Veda Rae would be in NICU for two days and she would have to be on CPAP for the first day there. Poor Veda wanted to breastfeed on that first day when Christin was in the room but could not and this was heartbreaking to mom and dad. Jericho was in love with his new daughter and would not leave her side. As it had been with Elise, Christin would have to wait to hold Veda for the first time. This caused her emotions to pour out as she was able to hold Veda after a 24 hour wait. Then finally, she was able to “snuggle up” to her infant daughter and feed her. That’s an experience reserved for a mom and newborn child and Veda would take right to it. Christin looked at her baby girl and noted that she looked so much like her father as Veda had Jericho’s nose and eyebrows. This little baby was already seen to be full of personality. Christin saw in her a fiery spirit and she knew that they would have a little firecracker on their hands. Mom was okay with that and they would all soon be on their way home. Life was good at this point. Who could argue that it wouldn't be? Both Jericho and Christin were involved in professions that they enjoyed. They had found love in each other that could last a lifetime and now, their family had grown by one. Elise was now 7 years old and had grown into a beautiful little girl. She was showing a lot of promise and was gaining new interests in the arts and music. She now had the little sister that she had so desired and all together, this group was growing into a special little family. There had to have been nothing but positive feelings at this point in regards to what the future would hold for them. Veda would grow and she would hit all of her milestones on time. Christin said that she was feeding herself baby cereal at 7 months. Veda was crawling by 10 months and she was walking by one year. She was also using simple words like mama, dada, and nana by that time. In some ways, it seemed that she was exceeding what one would expect. That was until 14 months of age. There was one thing that was of concern prior to that and that was that Veda never slept through the night. Not even once. It would be much later, after a fun and exhausting trip to Disney World, that she would sleep on the way home and also finally, during the night. Was this just part of being the firecracker that her mom had predicted she would be? Or, was there something else that was taking place? Perhaps more alarming to Christin was the amount of water that Veda was drinking at 14 months. Christin stated that Veda would scream for water and she was drinking about a gallon a day. Why would such a little girl need so much water? Veda didn’t want juice or milk. She only wanted water and lots of it. Christin was so concerned about this that she took Veda to see the pediatrician. Once there, she would share her concern with the doctor thinking that Veda could have diabetes. Christin stated that the doctor would just blow off her concerns, saying that Veda “doesn’t look like a diabetic child”. There were no tests of any kind ordered and this did not sit well with Christin because she knew that there was something going on with Veda. She did what any thinking person would do and that is to seek an opinion from a different pediatrician. Christin explains the response that she got when calling, “I called another pediatrician's office and spoke to the nurse. I told her the situation and I asked if there was, anyway, I could bring her in for a second opinion. She said, ‘We really don’t have second opinions’. I explained in deeper detail what was going on and she said ‘Ok. We can fit her in. Bring her”’. Something's Different  Mom's little princess! Christin went on to tell me what happened as the 2nd pediatrician looked on. He watched as Veda drank two 12 ounce sippy cups of water and with that, he pulled out his prescription pad. The very first thing that needed to be done was to find out if Veda had diabetes. This would require a blood draw to have her A1C checked and the results would show that Veda didn’t have diabetes. There were other tests done as well and the doctor would go over the results with Christin during a follow-up appointment. Of course there would be a need for a urine sample as well as blood in the course of testing and the doctor wanted to discuss those results. The findings included the fact that, as one might guess, Veda’s urine was composed of almost all water. Christin shared that the specific gravity was zero and this meant that the concentration of the particles normally found in urine was extremely low. While at that appointment, the doctor brought up a condition called diabetes insipidus, of which there are four kinds. He explained the differences between each type and then referred Veda to three different pediatric doctors. One was a nephrologist, then an endocrinologist, and also a gastroenterologist. Can you imagine what it would have been like for her to have so many appointments in front of them? And also, how would Christin's level of concern be elevated by this new information? Christin shared her reaction as she did a search on the internet for information on diabetes insipidus, “When I got home, I read about all the types of DI online and I remember crying multiple times because I saw what a hard life people with DI can lead.” If only that was all there was to Veda’s condition. Not to minimize the impact that DI has on those who have it but could there be more to this little girl’s story? The trips to be seen by all of these specialists would begin and Jericho would attend the first one with Christin. Veda would be seen by a nephrologist first. This is a doctor that specializes in diagnosing and treating kidney conditions. This would make sense with the extreme amount of water that Veda was consuming. The nephrologist would order another test that would require water deprivation. This was hard on Veda and on her family. Christin said that Veda screamed “baba” pretty much the entire time, the night before the test. They wanted to see if Veda could concentrate her urine. Simply put, they wanted to see if Veda’s urine solutes had the right types of particles in them. They would soon also have Veda seen by a gastro doctor. He wasn’t too concerned by anything that he had seen when examining her. It was then time to go back to nephrology to go over the results of their testing on Veda. I’ll let Christin explain what took place at that appointment, “This time we saw a female doctor. Dr. Jennifer Willis. She came into the room, introduced herself and looked at Veda. She sat there for a moment and said, ‘Who does Veda look like?’ I said, ‘I think she’s her dad’s twin.’ She asked to look at a picture of my husband. She looked at me, looked hard at Jericho’s picture and then looked long and hard at Veda. She handed me my phone back and then went on to tell me that Veda was able to concentrate her urine, so there was no need to worry about nephrogenic DI. She said that because of Veda’s water intake, she wanted to see her again to monitor her and see what endocrinology had to say.” That was the majority of what took place at that appointment. Why was the nephrologist interested in Veda's appearance and the similarities with her parents' facial features? Did she suspect that there was a genetic disorder involved? Christin continued, “At the end of our appointment, she said ‘I would also like Veda to see Genetics. Please call them to set up an appointment asap, because it can take a long time to get in.’ I really thought nothing of it. I was so concerned about the DI, that I thought she might think Veda has a genetic issue that was causing the extreme thirst.” and the appointments continued from there. Central Diabetes Insipidus was another form of DI that was being looked at as a possibility. This would make sense as this form of DI is characterized by extreme thirst. Veda would be examined and would be cleared of this form of DI. The search for an answer would continue and in the meantime, Christin would make an appointment for Veda to be seen by a geneticist. Christin would call in August of 2021 and the office was booked out for an entire year. Veda’s appointment was made for August the 8th of 2022. It was not known at the time but that is where the answer as to what was taking place with Veda would come from. Veda would end up being cleared of having DI and they just kind of go on with life as they established a routine with Veda. Part of that included Veda waking up multiple times a night to drink water. She would be seen by Dr. Willis a few times in the course of the year just to make sure that all was well with her kidneys.  Doing life together. Being well intentioned, the pediatrician said that the Ulrichs should stop giving so much water to Veda and that they should set times for her to have it. That didn’t work because Veda was relentless and would scream until she was given water. Her parents were doing the best that they could as this would be a big challenge for any parent. Christin noticed another thing about her daughter and that was she snored quite a bit when sleeping. Veda would also pause in her breathing and would have to catch her breath in her sleep. Christin would bring this up with the pediatrician and he would refer Veda to an ear, nose, and throat doctor. He thought that she could possibly need her adenoids removed. Veda was also getting frequent ear infections and the doctor wanted to know what the ENT clinic would recommend. It would be around May of 2022 that Veda would be seen by an ENT doctor and they would do an xray at that time. That would reveal that Veda did, in fact, have enlarged adenoids. She also was seen to have fluid behind one of her ears. They also did a hearing test and Veda would fail to respond to some of the pitches of sound. This, they chalked up to her age and behavior. The surgery for her adenoids would be scheduled for September the 20th of 2022. Christin shared that it was during this time that Veda was becoming increasingly irritable. She was having tantrums and she hated going in her car seat. She wasn’t talking well, using only about ten words and she was also suffering from separation anxiety. Why was someone who should be a happy little person experiencing so many difficulties? Remaining Hopeful  Darling pic! Christin felt that all of this could be related to her adenoids. This, as it was determined that Veda had this issue and that she needed the surgery for it. If so, would Veda be able to sleep through the night once she received the surgery? Maybe her speech would improve, as well as her attitude. At that point, they were just waiting to see if things would improve. Perhaps there was hope that things would get straightened out after this took place. Christin and Jericho would do their best to remain optimistic but something would take place as June of 2022 rolled around. The two of them would be shaken by what would soon happen. It was on the 2nd of June and Christin had just returned home from a 12 hour shift in Daytona. Jericho and Veda were sleeping together in bed and Christin laid down next to them. It all began as she laid there scrolling through videos on TikTok. That is when she came across a page for little Haidyn Fowler, a girl who had Sanfillippo syndrome. The page was created by Carrie Fowler, Haidyn’s mom. Christin shared what she was thinking as she looked at Haidyn for the first time and also what would take place as a result. Here is what she told me, “My first thought was ‘Wow! She looks just like Veda!’ Then I started listening to what Carrie was talking about. She was explaining how her sweet baby had this horrible syndrome that would eventually take her life. I clicked on her page and watched a couple more videos. Because I work in ultrasound, I learned a lot about different pathologies and disease processes. I had never heard of Sanfilippo syndrome. It piqued my curiosity and so I did what I always tell my patients not to do. I googled it.” What would be revealed to her as Christin researched Sanfilippo would leave her feeling ill. Christin said that her stomach hurt and her heart was beating quickly as she read through the symptoms of this terrible disease. They closely matched the things that had been noticed in Veda. Compulsive behavior and hyperactivity, speech and developmental delays were mentioned. The list also included sleep disturbances such as Veda was known to have. She could see the illnesses that often plagued little Veda as she continued to read. Ear and respiratory infections were among the symptoms and these fit into Veda’s health picture. What she was reading also mentioned a large head size in a child and Christin knew that Veda was in the 99th percentile for this. She started to panic as she felt that Veda had all of the symptoms associated with Sanfilippo syndrome. Her search for symptoms continued as she looked at the clinical features that would be present in a Sanfilippo child. Among them were coarse facial features, prominent eyebrows, and a low nasal bridge. Also listed were full lips and a big tongue, as well as thick and coarse hair. These were all things that Christin had noticed in her daughter. Laying there next to Veda in the early morning hours, Christen was in “full blown panic” and she was feeling nauseous. Christen shared an exchange between her and her mother that took place over instant messaging during this time. It says a lot about the stress that she had been under during. Here is what she told me, “At 1:51 am my mom sent me a fb message. I think it was a funny video or something like that. I simply messaged her ‘momma I’m tripping out’, she said ‘why?’ and I replied ‘I think Veda has Sanfilippo syndrome’. From there, we went back and forth. She kept telling me she didn’t see it and said I was making myself sick with worry. She knew I had been dealing with a lot of stress. Between Veda being hard to take care of and the stress of working in health care during the pandemic, I had gotten Bell’s Palsy.”  Daddy's girl! Christin’s mom did her best to calm her daughter but it would be a sleepless night for Christin overall. She instead spent most of the night in tears. This is an intelligent person who worked in the medical field. She knew how to observe and make a determination. She had watched Veda over the course of her young life. The evidence for Veda to have the disease was in print and in the symptoms that she had observed. Christin would share everything with Jericho once he woke up, the videos and what she had read. Christin shared that she watched as the color faded from her husband's face. She could tell that he was convinced as well by what she had shown him and he wanted to know how Veda could be tested. The timing for all of this couldn’t be worse as the family was going on a vacation in Arkansas soon. All Christin could do is to assure Jericho that she would get in with Veda’s doctor as soon as she could. One can only imagine what it would be like to have this kind of thing in front of them as they headed for their vacation. Also, how would this affect their time together while in Arkansas? Christin shared, “The whole way there we would say to each other. “She doesn’t have it. We’re just being paranoid. Right?” While most people on vacation don’t want it to end, my husband and I just wanted to get home and get her tested.” They couldn’t wait to get home and once they did, Christin would make an appointment with the pediatrician. Both she and Jericho would attend that appointment where they told the doctor everything. They showed him the video of Haidyn Fowler and his response was that she and Veda could be sisters. The doctor had never heard of Sanfilippo. Christin shared the symptoms with him and explained how Veda had all of them. Oftentimes, doctors will know in general what a lysosomal storage disorder is without knowing a lot of specifics. He admitted that he had never heard of the disease and honestly felt that he wasn’t comfortable having Veda tested. He didn’t want to miss anything and he felt that it should be done by genetics. As difficult as it would be to wait, he urged them to hold off until the appointment with genetics in August. Christen and Jericho understood the doctors reasoning behind his decision but they were anxious to know what the truth was. Having to wait was the most difficult thing. Christin shared, “My husband and I left that appointment upset. Not that he wouldn’t order it, we understood. We just felt upset that we didn’t have an answer. We were dying.” So they would have to wait until the appointment in early August to talk to the geneticist and to have Veda tested. Those couple of months would go by slowly. First, the rest of June and then July. Finally, August would arrive but in the meantime, Christin would do more research. She stated that she spent most of her nights comparing Veda to other children known to have Sanfilippo syndrome. She would use the Cure Sanfilippo Foundation web page as her source of information to make the comparisons. Their pictures and their stories were all there for Christin use to draw comparisons. Then there was TikTok where so many of the families had videos of their children posted. Wanting to be Wrong  Special bond. Christin would watch many different videos but would always come back to the ones of Haidyn Fowler. Christin shared concerning the effect that this would have on her, “I watched hours upon hours of them. And then I would always come back to Haidyn. When I would watch videos of her just looking into the camera, I would go into my bathroom and breakdown. Looking at her was like looking at Veda. I would cry listening to Carrie talk about all their struggles. I just wanted to reach through the phone and hug them.” There was one video in which Carrie shared that people had compared Haidyn’s appearance to that of a little girl named Vada. She was in the movie ``My Girl”. Christin’s daughter had actually been named after this same little girl because it was felt that Veda looked so much like her. So many were the similarities with Veda and this little girl in the movie and Haidyn also! Christin again shared, “There were so many similarities, and it was torture waiting for answers that I already knew. I just wanted to be wrong. I wanted to be the crazy helicopter, hypochondriac parent. I didn’t want to be right.” Torture was the operative word in this case and who wouldn’t be able to understand that as a parent? Time always moves on whether or not we want it to and the day of the genetics appointment would arrive on August the 8th. Of course Jericho and Christin would be there together at this appointment. Christin stated that the appointment was “very long and very thorough. Once there, Christin would waste no time telling the doctor what she suspected. While the doctor would not commit right away to that conclusion she would say that there was evidence for the presence of a lysosomal storage disorder. There would be a lot of information shared over the course of the appointment. Things like family history, Christin’s pregnancy with Veda, and her delivery. She also wanted to know about Veda’s early development. Then there was a physical examination where the doctor looked at Veda, essentially from head to toe. The doctor would then step out and return in about 20 minutes. She would show them everything related to Sanfilippo syndrome first. She then showed Jericho and Christin information about something called Cantu syndrome. This syndrome affects a person’s physical features, and it also affects the function of the heart. The life expectancy of someone with Cantu syndrome is around 60 years old. Veda could potentially live a long life with something like this. Things would be very different though if she was diagnosed with Sanfilippo syndrome. Either way, genetic testing would be performed because Veda showed signs of having a lysosomal storage disorder. If things were not tense enough for Veda’s parents, the wait for the results would take a few weeks. The staff did a buccal swab as a means for testing and the sample was sent to the lab at a company named Invitea. Christin had the ability to check their website to see when the results came in and she did so “probably 30 times a day”. She was able to see the testing for Veda move through the different stages until one day, the results were shown to be in for the doctor’s review.  Warrior Princess! This took place on September the 6th and they had waited months to find the answer concerning Veda. As difficult as it may have been, life had to go on during the process and there was no way to know exactly when they would be contacted. But it would be the next day, the 7th of September of 2022, when Christin was at work that she received the call. Of course she would be anxious to receive it but work was in front of her. In fact, she was with a patient when the call came in. Christin could only let the call go to voicemail until she was done with her patient. She listened to her voicemail once she was finished and found out that the call was from a genetic counselor at University of Florida Health. Christin had never heard of the term before and had to look it up. Basically, what she read was that a genetic counselor is assigned to a family when a genetic condition is present in the family. This was overwhelming for her as she knew what this meant and that was that Veda had a serious condition. Christin was in tears when her friend and co-worker Nicole stepped into the room. She hugged Christin and urged her to call the counselor back. Perhaps Jericho could be on the line during the call. Nicole encouraged Christin with these words, “No matter what, Veda is an amazing, strong little girl and you and Jericho are the best parents to her". With this, Nicole stepped out as Christin called and Jericho was able to be on the line with them. The genetic counselor first introduced herself and told the couple what her role was. She then told them that they had received the results of Veda’s testing and she wanted to give them a couple options. The options were to either come in for an appointment during the week or they could receive the findings now over the phone. As difficult as it would be to know right away, it would have been worse to wait, so their answer was “Now”. The genetic counselor would go on to share the findings with the Ulrich’s over the phone. With the following, Christin shared what she was told along with what her response was, “She then very calmly said ‘Veda’s results showed two pathogenic SGSH genes, which is conclusive with Sanfilippo syndrome.’” Christian continues, “The sound that left my body is unexplainable. I felt like someone just told me my child died. In a way she did.” With that her co-worker Nicole along with another friend named Katie entered the room. They knew by what was happening that the news was not good and both of them were there to help in whatever way that they could. This didn’t seem fair and Christin screamed those words as her friends held her tight. They then called Jericho to make sure that he was okay to drive. Nicole and Katie stayed with Christin until Jericho arrived at the hospital to pick her up. Once they were together and headed in the direction of home, they pulled into a parking lot and just held each other. The tears that they shed left the two of them feeling unable to breathe. They went home when they were able to, leaving one vehicle behind so that they could stay together. There was always the hope that they were wrong and that Veda didn’t have Sanfilippo syndrome but now they knew. Their little girl had officially begun a journey, one that they all would take together. The Worst Day  Miss personality! Knowing what was probably the truth did not prepare them to receive the words that no parent would want to hear. Once at home, Christin would contact close family members and they would rush to this young couple’s side. They offered help with both Elise and Veda, watching them as Jericho and Christin remained stunned by the news. Christin shared, “It was the worst day of our lives. The next few days are really a blur. Our family helped with the kids and me and my husband laid in bed. We were mourning our child who was still alive. It felt like she had died. We would cry ourselves to sleep, only to wake up a couple hours later feeling like a brick is on your chest because you realize it’s reality and not just a horrible dream.” It would be difficult enough for an adult to wrap their head around something like this. What about Veda’s older sister Elise? Christin’s older sister had already given the family a lot of support and she would come over to help as they explained things to Elise. Christin shared the words that they used, “We sat her down in the living room with us and explained to her that mommy and daddy had a piece of us that was bad that we didn’t know about. We told her that it wouldn’t make us sick, but because we both have it and made sissy, she got both of those bad pieces and that she was sick.” They did their best to be honest while explaining the reality of the situation and it wasn’t easy. They told her that Veda would one day lose her ability to talk and play with her. Elise had hoped that her little sister would be okay in spite of this but her parents shared the reality of the situation. Veda was sick with something that the doctors couldn’t make go away and Elise would lose her little sister when she was still young. Can anyone imagine how difficult it would be to share something like that with a young girl? One who had wanted a little sister to play with. Her parents went on to explain how important it was to make memories and to enjoy the time that they had together. All Elise could say in response was that she didn’t want her sister to die and that this was so unfair. She would repeat these words while crying and hugging Veda. How do you go on from there? Life would never be the same. It may be for years that you anticipate the inevitable as you’re grieving for someone that is still with you. A love so profound begins to develop. A love that is undying. You settle into a new normal and move ahead because you have no other choice. There are challenges each day that are not experienced by many as you battle alongside your child. You gather yourself up and do everything possible for that little person that you helped bring into this world. Jericho and Christin attended a follow-up genetics appointment with Veda after the diagnosis. Christin referred to it as being “underwhelming”. There wasn’t much help to be offered as they were told that there are no clinical trials. In the vast majority of cases involving these rare diseases, parents are told to enjoy the time that they have remaining with their child. That is the type of sentiment that the Ulrichs received during the appointment. The staff was kind enough to answer any questions that they might have but there wasn’t that much left to be learned. Jericho and Christin had spent the months leading up to the diagnosis researching Sanfilippo and the couple knew what they were in for. Christin shared the questions that they did have at the time, “The questions that we did have could not be answered. Some of those were ‘How fast do you think she will progress into the disease?’ and ‘Are girls affected worse than boys’ because most of the boys I was seeing online seemed to be doing better than the girls. Their answer was ‘We really don’t know.”’ Anything that was out there in the way of help would seemingly be left for them to find. The help that they truly needed came from the organization named the Cure Sanfilippo Foundation. This is a great organization started by a couple named Glenn and Cara O’Neill. They have a special daughter with Sanfilippo whose name is Eliza. This couple’s own need for help in the beginning would lead to them helping with the needs of many in the same situation. One of the really big helps that they provide, besides bringing the families that battle Sanfilippo together, is providing information to them. Christin contacted Glenn shortly after the diagnosis and Glenn got back to her quickly. They would set up a video conference together where the Ulrich’s would receive a lot more information than the doctors were able to provide. Christin then reached out to Carrie to tell her how thankful she was. Sharing Haidyn’s journey over TikTok had made a major difference in the speed at which they were able to get an answer. Carrie would share with Christin the name of a group for the parents of kids with Sanfilippo and also gave the Ulrichs a lot of support over the first few weeks.  Spending time with Sadie Rae and her mom. Friendships developed and the Sanfilippo community embraced the Ulrich family as part of their own. Local friends, family, and co-workers brought meals and other support to help them get through difficult days and all of this was much appreciated! People that were already working with Veda in the way of therapy researched her disease after learning about it. This was so that they could give her the very best in their efforts to help her. This was all special treatment for a special little girl and her family. Life would go on but that life was different now. Christin would spend most of her evenings up late, and sometimes into the early morning, searching for clinical trials and medications that might extend Veda’s life. One of the things that showed a measure of promise were bone marrow transplants. Christin would get in contact with the mom of another Sanfilippo child who would put her in touch with the Bone Marrow Transplant Team at Duke University. Things would move quickly once Christin made the connection as they would call her back the very same day. A phone appointment was set up with a doctor on the team within a week. Christin shared everything about Veda during the call and she was asked to bring Veda up to Duke in the first week of January. This would not be a one day visit, rather it was a 20 day stay where multiple tests would be performed on Veda. Imagine how this length of time away from family affected Veda. There would be labs drawn, imaging performed, and plenty of doctor visits. This seemed to be their best option at the time but the Ulrichs would begin to question things as they learned more about it. Searching for Help  The technology behind stem cell transplants is amazing and they can do wonderful things with it but there are no guarantees when it comes to treating Sanfilippo syndrome. This meant that Jericho and Christin would have to weigh the risks against the benefits in making a very difficult decision. Veda would first need to have her adenoids and tonsils removed, staying in the hospital for 3 weeks. She would then have to have a port placed and would have to have chemotherapy for 10 days. This would be done in order to take her white blood cell count down to zero. She would then have no immunity. Veda would then receive the transplant and she would then have to live in the transplant unit for 3 months. After that, they would have to live near the hospital, still in North Carolina, for another 3 months. There would be no going to any public places and no family outings. There would then be numerous trips to and from North Carolina for follow-up appointments. That’s a hefty commitment for a family from Florida but there would be more to the decision making process. The Ulrichs were told that there would be a 20% chance of them losing Veda in the process. Also, There would be a very high risk of her getting something called Graft Vs. Host. This is where the stem cells see the body as something foreign and they attack it. There would be medications for this but there was no guarantee that they would work. There was also the chance that Veda’s body would reject the transplant. This would dramatically drop the chances for success. There were also other concerns about things like infections and viruses to name just a couple of the other concerns. When faced with all of this and taking everyone’s opinion into consideration, Jericho and Christin decided to not have the transplant done on Veda. It would be easy for someone on the outside to weigh in and share their thoughts on the Ulrich’s decision. One would have to walk in their shoes however to completely understand what making such a tough choice was like. For them, in their particular circumstances, this writer can understand the choice that they made. As a couple, they do believe in the science behind stem cell transplants and they believe it might be the right choice for others. Everyone’s situation is different and they feel this was the right choice for them and their children. You just know that at this point in their journey that Jericho and Christin would be on the lookout for something else to help little Veda. Something that made sense for them while also offering a greater chance of success. Hope was still alive even though it seemed so difficult to keep a hold of. Christin said that their lives had been completely turned upside down by Veda’s diagnosis. Who could argue against that being the case? Priorities were changed and the biggest one was spending time together. Prior to this, keeping an immaculate house seemed to be important but now those big cleaning days were set to the side. Time together as a family was now the number one priority. Whether it was time spent with extended family or trips to places like Aquatica or SeaWorld, they were going to now do that. Time spent together between Elise and Veda was also a priority. Veda getting homework done was not as important as time with her older sister.  Flawless. There would be more that would be sacrificed as a result of Veda’s diagnosis and that involved Christin’s work schedule. Of course more time spent on Veda’s care was the most important thing to her mom. Christin would drop down from being a full-time employee to being on PRN, or as needed status. This would leave the family more cash strapped and with difficulties paying their bills. These included medical bills that are related to Sanfilippo syndrome. At one point, the Ulrichs had planned on paying their house off as fast as they could. They were even planning to buy a 2nd house to leave to their girls. Those plans had now been stripped away with the results of the diagnosis. Now, they pay the minimum required on their house each month in order to have money for fun things. This family has their priorities in the right order (not that they didn’t before) and those priorities revolve around time with Veda. And still, they have their eyes open and are looking for a way to help their daughter battle Sanfilippo. Science is a wonderful thing, however it moves slowly most of the time. There are people doing the research and there is always hope that a new clinical trial will be made available. While I’ve been writing this story, the Ulrichs had been hoping to have access to a trial that is taking place in Germany. The trial involves Enzyme Replacement Therapy. Remember, these kids are missing an enzyme that is critical for ridding their bodies of waste produced by broken down cell parts. Although not a cure, ERT improves the quality of life for kids that receive it.
Jericho and Christin love this little girl so much that they were willing to drop everything in order to go to Germany. Sadly, Veda was one of the children that was not chosen for the trial. This, of course, was another deep disappointment for them. Hope still remains but they know that the clock is ticking and that time moves on. The Ulrichs have also discussed moving to North Carolina in order to be close to Duke University. This would be so that Veda could get the best care possible. No matter what happens next, they know that they love Veda fiercely. It’s a love that will grow to be profound and one that is undying. Christin shares concerning Veda, “She makes every day an adventure. When she learns something new, we just look at her in amazement. She has the sweetest, goofiest laugh. She is my husband’s twin and loves to tinker with things and see how they work. When she is still and quiet, I just breathe her in. I smell her hair; I look at every part of her face. I study her hands because I don’t want to forget them, and I want to hold her forever.” To see a child travel down this path is the worst thing imaginable and it’s the hardest thing for a parent to go through as well. So often, I’ve heard parents say that they would gladly trade places with their child who has been afflicted if they could. That is in order to keep them from going through the stages of a rare disease. Again, these same feelings Christin shared with me concerning their warrior princess. That is a result of a love that is profound. They love Veda so much that it hurts. That is what happens when love is mixed with grief over what is expected. Elise struggles also with the realities of Sanfilippo at times. Sometimes though, she has to be reminded about the facts. She won’t have her little sister always unless a cure is found. The Ulrichs are doing what they can during these difficult days. Loving Veda and each other is the key ingredient. I know that there is still laughter and a cause for joy in their house. They remain hopeful but that hope is tempered in reality. This means that they are vigilant in looking for help in the form of a new clinical trial. In the meantime, they spread awareness concerning Sanfilippo syndrome. The Ulrichs are using several different social media platforms to tell people about Sanfilippo and their darling little girl. Christin is thankful for what Carrie Fowler’s family, as well as, others in the Sanfilippo community have done for them. They have experienced the love and support of a caring group of people. It is their goal as a family to help others in the way that they have been helped. Their plans for the future have definitely been changed by all of this but they will remain determined to do everything they can as a family. Their priorities are where they need to be and focusing on Veda and each other is at the top. Christin shared, “We love Veda and we are so proud of her. She truly is the bravest girl I have ever known. Even when she’s scared, she will push through. We just want a cure so badly for her and her ‘Sanfilippo Siblings’. No child deserves this.” The key is to never give up hope because there are people that care. Children like Veda are the most special and the most amazing because of the resilient way in which they live their lives. They deserve our very best. Thanks for taking the time to read Veda’s story! ~Greg Lopez~ Blogger and Advocate
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 Loving life together. “Life is precious. I always knew that but never understood it. When you have a child who will continue to depend on you everyday for their life - it’s a big responsibility, and I pray daily that I am able to fulfill it. I believe I’m stronger now, but also softer….” ~Daisy Vasquez Vogt~ Harvy’s Step-Mom and Advocate I have stated the following a number of times in my writing and social media posts. That is that the love that I have for my own son with special needs has lent itself to the love that I have for the kids that battle. I suppose it’s true that being a parent to someone who has special needs is something that you have to grow into. There isn’t a school available that trains parents to care for a child with special needs. Not that this writer is aware of anyhow. Certainly, there are principles for raising any child that would apply to one that has special needs. I do, however, think that there are challenges that can’t be expected when you are given a child that is of special needs. There are more doctor appointments needed and sometimes, you have to search for answers for what you are seeing in your child. The frustration sometimes mounts as a person deals with the medical establishment. While made up of well meaning people, rules and regulations can make for some very difficult days. A diagnosis can be missed as well and that can lead to a lot of trauma. To some people, having a child with special needs may seem like a burden. So much of a parent’s time can be spent dealing with the additional challenges that come with a special kid. After all, they can’t always do what needs to be done on their own. They depend on mom and dad to assist with the simplest of tasks and those demands could last for a lifetime. To another type of parent or caregiver, caring for someone who has special needs will just be accepted as being part of life. Especially if that special person is a joy to be with. By that I mean that the person in your life who has special needs has a sweet disposition and having them in your life is a joyful experience.  When this is the case, they become the center of our attention. This has been the case with our son Benjamin. The way that we feel about him has definitely been a factor in my writing and he has become an advocate unaware for the kids that battle rare diseases. Himself being ultra-rare with a condition named PACS2 syndrome, Benjamin has been a joy to have in our home and there has been no regrets with having our lives revolve around him. It is something that we have just grown into. Yes, there have been challenges along the way with things like a bout with aspiration pneumonia and a seizure disorder. But still, I’ve said a number of times that the things that we have faced pail in comparison to what other families will go through. I’m speaking of the families that will battle a rare and fatal disease alongside their child. Regardless of the type of disorder that we might be dealing with, these kids can and most often do change us as individuals. Certainly, our plans for the future can be altered and the things that we dreamed of may never become a reality. The extra care that is required may bring about the need for a person to sacrifice their own ambitions. An individual's way of thinking can be changed and their life can be redirected. Either way, having a person with special needs in our lives will change the way we view life in general. Such an experience can also give us a specific change of direction for our life. For me, I always just took being a parent to someone with special needs as being part of life. My focus in life was shifted to a large degree when I became aware of kids that battle rare and fatal diseases. This was through the life of one little girl who had something named Batten disease. Although I wouldn’t lay claim to being the only person affected by her life, her story became part of mine in a sense. She made me aware and knowing about her changed my way of thinking. The science concerning the human body and how it works is fascinating but a genetic defect in a child can be devastating. Unaware at the birth of a newborn, it will one day be revealed to the parents that their child has a fatal disease for which there is no cure. The two main groups of children that I have written about have diseases that fall under a category for what is called a lysosomal storage disorder. A lysosome is a small structure in the cells of the body known as an organelle and they have a specific function. A lysosome contains digestive enzymes that break down excess or worn-out cell parts. They may also be used to destroy invading viruses and bacteria. If through a genetic disposition, these enzymes are missing in the lysosomes, the cells of the brain and body store up wastes instead of them being disposed of. I’ve read that there are almost 50 of these diseases with more storage disorders being identified as time continues. I became aware of the term through following the journey of my first Batten warrior and I’ve learned more as time has gone on. Following these kids has taught me that I love writing their stories and that has not changed. At a certain point, I decided to branch out a little in my writing. In doing so I started to get to know some of the families that battle a disease called Mucopolysaccharidoses alongside their children. Being another lysosomal storage disorder, it is more easily identified using the letters MPS. MPS has seven main types with each one having its own sub-types. Kids born with MPS will develop normally for a period of time after birth but will then begin to develop symptoms. With each different storage disorder, the body is incapable of getting rid of a particular type of waste. That is what causes symptoms that are peculiar to any type of MPS. Some symptoms are common across the types of the disorder. The journey begins as the symptoms appear and the road is traveled by the entire family. Sometimes, a diagnosis is determined quickly while in many cases, it is not. The search for answers can be long and difficult and the news of what is ahead can bring with it shock and great dismay. This next story is about a young man that has MPS VI, also known as Maroteaux-Lamy Syndrome. Small in stature but big at heart, his life has had a major impact on the lives of the people that make up his family. I will go out on a limb and say that this is especially true in the case of his step-mom. Much of her world revolves around the needs of her MPS warrior step-son whose name is Harvy. Her life has been redirected in many ways by his but excluding her desire for a cure, she wouldn’t have it any other way. Let’s get to the story now! A World of Promise  Young Daisy! Daisy Vogt’s life growing up could have been like a lot of girls in America. I don’t mean to write stereotypically but you know what I mean. I’m speaking of the usual activities that young ladies are involved in while growing up and attending school. Things like sports or maybe cheerleading. Going to school dances and other activities associated with being a classmate might be included. Sleepovers with friends and one of a father’s most tense times during a girl's life, that being when she begins to date boys. It was however because of her parents line of work that Daisy was not your average American girl. You see, both of her parents were in the hospitality industry, both being hotel managers in places abroad. So it was that in 1984 that Daisy was born in a place named Bad Kissingen in Southern Germany. Even though Daisy’s first language was English, she would also become fluent in German. Maybe it was only through her charming little girl presence that Daisy would gain the position of an only child. This of course had its pros and cons. On the positive, Daisy would be lacking nothing from a set of parents that loved her. It was also true though that much would come to be expected of her from a mom and dad who had high standards for their daughter. Just as it can be in any family when a child is growing up, Daisy would have to move with her parents because of a change in work position. Daisy would move with her parents to Kenya in Africa when she was only two years old. There, she would learn ‘baby Swahili’ while attending kindergarten. At a young age, Daisy was traveling the globe it would seem. After 3 years in Kenya, her parents would move again with Daisy in tow. This was again for a change of position that was in another country. This time, they would move as a family to Thailand in 1990. Daisy would call Thailand her home country for a long time to come after that point. Her parents, Michael and Marion, thought it important to invest in their daughter in time and in every other way. They did so, including her in ‘adult’ activities in order to stay together as a family. This paid off for them in that Daisy would grow to become mature beyond other kids her age. Along the way, Daisy would become fluent in the Thai language as well and would also study Spanish while attending high school in Thailand. She didn’t know it at the time but this would come in quite handy one day. I may be getting ahead of myself here though. Daisy started her education in some of the smaller schools abroad until she was enrolled in the International School of the Eastern Seaboard. As her education continued, Daisy would shine and begin to show people that her life had great promise. Even with the hard work scholastically, Daisy also knew how to have fun. She would get involved with the arts, participating in activities like drama and dance, as well as jazz and ballet. She also had abilities as an athlete, gaining her greatest interest in windsurfing. Daisy competed in the sport and gained a lot of success, accumulating the trophies to prove it. Her future though would be shaped through her academic prowess. Daisy had concluded her time in secondary schooling while achieving a high GPA and considered where she might attend college.  Getting that diploma! Daisy had been in Thailand most of her life and had considered going to college elsewhere. That was until she was given an opportunity to attend Assumption University (ABAC) on an academic scholarship. With this, she would remain in Thailand while she completed her education. Her hard work in school had paid off and she would work on a degree in International Business Management with a minor in Marketing. As with most everything else in life, Daisy would be successful in gaining her degree with her graduation taking place in 2006. It seems that there were many facets to her life and several things that would influence her thinking for a career. One of those things came Daisy’s way as her mother had seen some information about the Elite Model Look talent quest. Daisy would enter because she had been involved in the modeling world already up to that point. This event takes place in 65 countries and that included Thailand in 2004. Daisy would enter and reaching the Thailand final, she would place 4th in the contest. Would this mean that much of her time would be spent on the runway at beauty pageants in the near future? The answer to that was no because it was during the Elite contest that she would discover that she loved the ‘behind the scenes’ part of the competitions much more. It was while Daisy was still attending university that she started to work with the management company that oversaw the Elite competition. They also managed the Miss Universe contestants when they came to Thailand. Daisy was the official translator when the girls, along with the Miss Universe team, were in Bangkok. She loved the work and that is where her interest would go. Her plan was to move to New York city in the states. She wanted to Chaperone and manage the young ladies involved in the pageants. This would allow Daisy to travel the world with them, doing charity events and awareness campaigns. This all had been placed within her grasp and Daisy was capable of carrying this through if the opportunity presented itself. Was this to be the direction for Daisy’s immediate future or would events and circumstances change everything for her? By the time Daisy had finished school in Thailand, her parents had moved to the Dominican Republic. Daisy would go there next after she finished working with the event management company she was with in Bangkok. It’s amazing how everything can change with a single chain of events but it sometimes does. Although she wasn’t aware at the time that it happened, this is what would take place with Daisy. It was just a dinner date out with a friend in April of 2008 and they were both headed home soon. Daisy’s friend told her that he knew a guy who had a car who could give her a ride home. She would take advantage of the offer and into the picture would enter Junior Vasquez. Like Daisy, Junior hadn’t grown up in the Dominican Republic either. He was actually born in the place that Daisy hoped to go to one day, that being New York city in the USA. Junior happened to be there in the DR because his parents owned a famous radio station in Puerto Plata. He had gone there after a serious injury had sidelined his college football career. Meant for Each Other  Looking good together! Daisy must have had a feeling about Junior from the very start. She states as much with this, “After my friend introduced Jr to me, I remember looking up at the sky and thinking "’you knew I wasn't gonna get to New York yet so you brought it to me, didn't you?"’ There must have been a chemistry that mixed right away with the two of them, you know, a love at first sight kind of thing. Daisy and Junior both wanted to see if there was something to their first impressions so they went out together to play billiards. It was then that Daisy would learn that Junior had been separated from his wife and he had two children, Harvy and his older sister whose name was Hilary. For Daisy, this was a big no thank you! She didn’t like children all that much and they weren’t really part of her plans. She told Junior as much and he would respond, “You will love mine” to which Daisy would soon find out that Junior “was absolutely right”. For the present though, these issues presented some challenges for Daisy. Up to that point, she had planned to leave the Dominican Republic soon and a relationship would complicate things. It’s also true that children, her own or someone else's, were not something she had envisioned for her future. Not right away at least. Daisy had definite career plans and the responsibility of raising children would hinder them. Perhaps she would have to alter those plans soon or change them altogether. The two of them would meet again for an actual date and Junior would leave an impression on Daisy from the very start. She explains, “On the evening of our first official date he brought flowers to my mom and I already knew he was going to be very different.” As for the Junior’s two children, they would have a chance to meet Daisy for the first time when everyone went out to have pizza together. Harvy was turning 5 years old when they met and Hilary was 9. I’ll share a little of what Daisy told me about their first meeting, “I will always remember because I was the ‘gringa’ or ‘foreigner’ in Spanish and had blond hair and a much lighter complexion than they were used to. They found it hilarious that I didn't speak much Spanish and loved my blond hair.” Daisy also shared that it was Harvy that stole her heart right away with his smile. A bond would also develop quickly between Daisy and Hilary. She made it her goal to teach Daisy Spanish so that she could become fluent in their native language. This was the beginning of things for what would become a family as Junior and Daisy quickly grew to be inseparable. Junior would soon take up residence at Daisy’s place and she would have an engagement ring on her finger ten months later. As was to be expected, Daisy’s stay in the Dominican Republic was extended, by a lot! That was due, in large part, to complications that came with their wedding plans. For one thing, much of Daisy’s extended family resided in Germany and getting everyone together for such an event was a challenge. The other thing that would slow things down was Harvy’s medical issues. Let me explain. Although he had a certain amount of charm to his appearance, Harvy was smaller in stature and the shape of his head was slightly different.  Absolutely beautiful! Doctors in the Dominican Republic had given Harvy the simple diagnosis of Dwarfism but there had to be more to his condition. Daisy would notice things about Harvy that would cause her to wonder and she would gain an interest in things as Junior shared Harvy’s history with Daisy. For one thing, Harvy was getting sick every time that it rained. Daisy shared that “it was a given”. Harvy was getting sick enough each time that they would spend at least one night at the hospital. Dwarfism wouldn’t seem to bring with it this type of an issue. Daisy shared that Harvy had a lot of issues related to his lungs for which the hospital would place him on a nebulizer. She also shared that they would have problems with doing blood draws every time Harvy was hospitalized. They just could not find a vein to draw from. Any parent can understand how difficult this would be on a child. Why were these things taking place repeatedly? Also of concern was changes that were taking place in Harvy’s mobility. He started complaining, saying that he didn’t want to walk long distances anymore and he was getting tired more quickly. One could certainly understand that the most embarrassing problem for Harvy was that he was losing control of his bowels. All of this had to be the result of more than just dwarfism and that is when Daisy started to research the symptoms that she was seeing in Harvy. Daisy shared, “Things just didn't feel right. I didn't understand why he was always sick and thought there had to be more to it.” Junior and Daisy were living in a place named Puerto Plata. Known for its beautiful beaches, it wasn’t necessarily the right place to be when searching for an answer in respect to Harvy’s issues. Daisy shared that the doctors had no idea what was going on with Harvy. It was during one of the many visits with a local doctor that it was suggested that Harvy be seen by a specialist in a larger city. Daisy would follow up on this in the city of Santiago and while there, MPS was mentioned for the first time. The doctor took one look at Harvy and stated that he thought that Harvy had something called Hurler Syndrome, which is a form of MPS. This doctor didn’t do a blood draw for testing or anything beyond just stating what he thought. He did, however, place within Daisy’s thoughts a name of a disease, that being MPS. Through this, Junior and Daisy would find the MPS Society of Canada who they would contact. They, in turn, would connect the family to a doctor in Santa Domingo that could have testing performed. This would involve a blood draw and that would be very difficult for Harvy to endure. Daisy shared that Harvy was terrified and was crying the entire time. The draw, however, would be done successfully and the sample was sent to Chile. The trip to have this done was 5 hours each way and the results would not be available for three weeks. Once it was suggested that Harvy had Hurler Syndrome, Junior and Daisy dived into a search for information about Hurler and MPS in general. They felt that Hurler would be a worst case if Harvy was to have MPS and they had hoped for the best. Learning the Truth  Special little family. The test results would come back and Harvy would receive a diagnosis of having MPS Vl, or what is known as Maroteaux-Lamy syndrome. Feeling that this was a less severe form of MPS, Junior and Daisy had felt some sense of relief but there would still be challenges ahead of them as a family. Daisy’s involvement with people of special needs had been very minimal up until she met Junior and his two children. She had some exposure during her family’s time in the Rotary and with various charities but that had been many years past. As a result, she didn’t possess any real knowledge but that would now change very soon. Not only for her but also for the entire family. How different life would be from what Daisy had originally envisioned for herself. That however, was not part of her thinking. She just knew that she loved this group of people that she now had in her life and she was up for any of the challenges that Harvy’s diagnosis brought to her and Junior. Harvy was diagnosed in the month of June of 2009 at 7 years of age. Both Daisy and Junior had found their way into the hospitality career field and had wanted to travel and work in different destinations. It would seem that this would now all change with Harvy’s medical needs at the forefront. After all, he would need a lifetime of assistance. A large part of life had turned into figuring out what was happening with Harvy. Now, it would be about how to manage life going forward with MPS. One thing that they did know is that they would have to leave the Dominican Republic one day in order to get Harvy better medical attention. Life and work continued on for Junior and Daisy in the Dominican and their plans to be married would soon take shape. It was three years after they met that things would come together for them to make things official. This would take place in June of 2011, two years after Harvy’s diagnosis. They would be married in a small chapel in the DR with Junior’s family and children looking on. A month later, they would make the trip to Daisy’s hometown in Germany where they would have another ceremony performed. Daisy’s family would be in attendance this time. Another life change would take place almost right away after Junior and Daisy would tie the knot and that was that they would move to Mexico. This would afford them better opportunities and higher pay within the hospitality industry. Up until this point, Harvy’s dad had split custody of Harvy and his sister Hilary with their mother. So with only two suitcases in hand and both children left with their mother in the Dominican Republic, Junior and Daisy left for Mexico. There was an additional reason for their venturing to another country besides personal gain. They had a goal of accumulating as much money as possible for moving with Harvy and his sister to Canada, or perhaps the USA. The goal was to get Harvy started on enzyme replacement therapy and they thought that they would have to go to one of those two places for Harvy to have access to this treatment. Once in Mexico, they would get connected with the Lysosomal Society there and would also learn that ERT was available in Mexico. This was amazing news! Daisy was the determined type of person needed to get the help that Harvy would need and she would use whatever resources she could find. If one avenue became blocked, she would find another way. Harvy’s diagnosis would also have a lot to do with the path that Junior and Daisy would follow for their future together. Of course they would organize the move for Harvy and Hilary once they found out that enzyme replacement was available in Mexico. Junior and Daisy would also find out that their insurance would pay for the treatments. Several things would have to take place before they could move Harvy to Mexico for the enzyme replacement. They would first have to find a larger apartment and then buy a car. Together, they would then have to go back to the Dominican Republic in order to explain the situation to Harvy’s mother. Junior and Daisy not only needed to take Harvy with them but also his sister Hilary who would help with his caregiving. This would be the best thing for Harvy and fortunately, Harvy and Hilary’s mom would agree to this. Along with the two kids, Junior and Daisy would bring the two cats that they had left in the DR as they all headed back to Mexico. Life is sometimes an adventure as their move would take place in 2012. After several weeks of filling out paperwork and attending appointments, Harvy would be approved to begin Enzyme Replacement Therapy. Harvy was 10 years old when he started ERT in Playa del Carmen, Mexico. Up to that point, there had never been a child that had started this therapy in Mexico at this late of an age. Daisy would find this out as representatives of the enzymes producer, BioMarin Pharmaceutical, approached her. The fact that Harvy was able to get started was no accident. Daisy was not the type to take no for an answer and she would find her way through any red tape that existed. She also feels that God was present in that situation, opening the door for Harvy. Things have gone smoothly overall for Harvy in regards to ERT. He did have hallucinations as a side effect a couple of times at the start but fortunately, those did not last any length of time. Harvy would also get tired at the beginning after finishing with an infusion but then his body adjusted to getting them. Having a child with special needs always makes life more busy but throw into it something like enzyme replacement and you add into life a regiment that has to be maintained. You can add into that additional trips to the doctor as well. For Daisy and Junior, there would be trips to the main clinic in Mexico city that would be required for Harvy. This was because their insurance would require yearly check-ups. Harvy would have to sleep in a crib in a crowded hospital room while they were there. These trips started before the infusions and continued throughout their time in Mexico. There were a couple of trips in which Junior would have to go alone with Harvy. Any testing that needed to be done would take place during the day with the nights being spent in hot and primitive conditions. How Life Changes  A special life together. Things would change one day but the beginning was a bit of a rough going for this little family. Life would continue with Junior and Daisy both working while life also revolved around Harvy’s infusion schedule. Hilary would settle into life in Mexico, gaining friends while attending school. She would always be a valuable help with her little brother. From very early on, Hilary was Harvy’s protector. She would carry Harvy when he got too tired to walk and was willing to move to another country with him so that he wouldn’t be alone. Hilary sacrificed, giving up involvement in a lot of activities in order to put Harvy’s needs above her own desires. She had to grow up a lot faster than normal kids and as a result, she would mature into an amazing young lady. Hilary would spend her entire time in high school while living in Mexico and she would also attend a university there for a semester. It would be soon after though that the situation would again change because of the Harvy’s needs. It was also true that Mexico was no longer as safe of a place to live as when the family first moved there. The biggest factor was that Harvy would need a hernia operation and they wanted him in a place where more medical knowledge existed. Harvy’s infusions were also becoming more difficult because his veins were having a lot of issues receiving the enzyme replacement solution. Harvy needed to have a port implanted to continue. Junior’s parents and sister lived in Orlando, Florida and that seemed like the place to go. Hilary had made a lot of friends while attending school but it was also a time in which she was getting ready for the next chapter in her life. Junior and Daisy, along with their kids, had spent 7 years in Mexico and they had accumulated a lot of possessions there. Junior’s parents agreed to take in Hilary and Harvy in Florida while their parents stayed behind in Mexico to sell everything. They then needed to take a temporary job assignment in Jamaica before settling in with the kids in Florida. All of this makes this writer’s head spin a little bit but again, it would all get done and the Vasquez family would soon be back together. Harvy would have his hernia and port placement surgeries done in October of 2018 and Junior and Daisy would finish up and move to the USA in May of 2019. That included the pets, wow! Things would get better for the most part after that. Hospital visits for infusions happened weekly both in Mexico and then also in Florida. Now, and for the last four years, the treatments would be done at home by an infusion nurse. Harvy’s port was originally placed in his rib cage because of abnormalities with his body. This was different from the normal location which is near the top of the chest. Things would change, again in 2019, as the port shifted and was no longer accessible. It would then be placed in the neck and thus the need for another surgery. Harvy would also have to have a procedure done for spinal decompression in 2019 and would require surgery for a cholesteatoma removal in 2021. He is a warrior and an amazing young man! Harvy continues to need a lot of assistance. Daisy shared that their days revolve around Harvy. He has very limited mobility and eyesight as well. He needs regular help with his hygiene, grooming, and keeping his diet healthy.  Harvy sometimes needs help with the most basic movements. Much of caring for Harvy’s needs has made Daisy better at caring for the entire family. She actually went back to school to study Integrative Nutrition in order to help with Harvy’s diet, along with that of the rest of the family. Daisy cooks fresh daily for everyone’s benefit and both she and Junior work out regularly. This is so that it’s easier to lift Harvy when needed, and also support him with his physical therapy needs. Junior and Daisy still both work in the hospitality industry but they are now able to do so from home. You see, Junior was able to land a job working from home three years ago and then was able to bring Daisy into the company a year later. They can each make their own hours and then can take turns working with Harvy. Hilary had moved out on her own soon after they moved to the states but they still see her as much as possible. Together, they would all visit New York in 2020 for Harvy’s Make a Wish trip. Daisy would finally make it to New York city! As you may have realized already, Junior is a great husband and father to his children. Daisy shared that this is not the life that he had envisioned for his son in many ways but having Harvy in their home is seen as being a blessing and certainly not a curse. Daisy shared that “Junior is a kind, honest, and very soft-hearted man”. This is even if his outward appearance may be imposing to some. Junior is from Brooklyn, New York and Daisy shared that he is highly resourceful, having a combination of both book and street smarts. He has a great sense of humor but he also knows how to take care of business. Daisy calls him their “eternal protector and provider”. We’ve talked about Harvy’s condition up to this point but what about Harvy the person? Daisy shared that he was shy but also fearless when he was young and he “loved to play once he opened up to you”. Junior had joint custody of his kids at the beginning and they would take advantage of the time that he and Daisy had with them. Beach trips and bumper car rides were among the favorite things to do. There was also eating ice cream together and playing hide and seek in their big apartment. Daisy said that all of these things came naturally and the connection between all of them grew as they spent more and more time together. She referred to Harvy as being a “born comedian!” Daisy stated that Harvy’s sense of humor is dark but hilarious. If he insults you, it means you’ve won his heart. He’s such a character that hospital nurses remember him fondly, months after he has left! Daisy shares a little more about Harvy’s character with this along with a couple of his biggest struggles, “Harvy is a brilliant, caring, and insightful young man, captured in a body that was his greatest enemy at one point. Losing his ability to walk, I believe, has been his biggest challenge. He hates needles and having to be stuck every week, that is the second biggest.” Even with this, he has an outlook on life that carries him through. This outlook is shaped, in large part, by his faith in God. Harvy has influenced the direction of Daisy’s life and a big part of that is the faith that he and his dad have shared with Daisy. She also stated that Harvy has his moments of weakness, times of dealing with fear and anger but he has the support of a loving family. Life Going Forward That group includes his aunt, sister, and grandparents. Oh, and Harvy’s dog whose name is Toby the Beagle. Daisy shared, “All of us would move mountains for him. We love him unconditionally and he knows, and feels this.” Harvy knows how to work around his limitations and I know that he has to be an amazing human being. There is no fooling this guy. Daisy says that he knows what a person is feeling by the tone of their voice and this makes up for his lack of good vision. It is impossible to lie to Harvy. Daisy also shared this, “His smile and laugh are infectious and he always has a cheeky comment on the tip of his tongue. This is what makes Harvy, Harvy. He dreams about walking and pulling pranks on us, he wants to run with his friends on the beach, he loves to spend time with his family playing games. And if he could, he would do these things and many, many more.” One may ask, since Harvy is in his early 20s, is he completely aware concerning his condition and health? The answer to that is yes! Daisy told me that they have always explained things to Harvy and that they have encouraged him to ask questions and make his own decisions. Harvy is inspirational and has taught Daisy so much personally. It would be possible for a person like Harvy to give up and just accept his current situation as it is. He is however driven by goals and his faith keeps him going every day. Harvy’s main goal continues to be, being able to walk again and his parents are doing everything possible to help make that happen.  Meant for each other. Daisy shared a little bit of a short conversation that took place between her and Harvy and also what her reaction was. Here is what she told me, “He's inspiring …. I asked him if he doesn't reach this goal here on earth (walking) if he will be sad and he said no. Because he knows no matter what, in heaven he will run. But he still wants to try .... I had to hold back the tears. That was while we were in the hospital some months ago dealing with all the UTI issues. He's such an amazing example of Pure Faith.” And that is Harvy and more. Daisy had goals that she wanted to attain as she finished college and a clear direction that she had seen for her life. Right now, her life is all about her family and helping Harvy to be fulfilled in his life. That includes a countless number of appointments and somewhat frequent trips to the hospital. Even as a couple, Junior and Daisy had wanted to continue to work in the hospitality industry and their plans included seeing new places throughout their careers. That changed as Harvy’s medical needs became more complex. Daisy shared, “I loved getting to know new destinations and I loved organizing events. Now I organize doctors and therapy plans instead.” It needs to be said though that Daisy and Junior have never been bitter over the precedence that Harvy’s needs have taken. They consider each day that they have with him to be a blessing and they’ve just made adjustments in their plans as necessary. Harvy’s needs come first and everyone is more than okay with that! Of course there is a bond that exists between Daisy and Harvy. Some might say that it's one that is more than you would expect between a step-mom and son. Daisy explains, “Harvy and my bond is ….. interesting. We are like water and oil sometimes but he’s my angel and I am his. We had a lot of struggles, like many, during his teenage years but as he has gotten older he has grown up and knows that I will always be there for him. He tells me to ‘hush’ when I tell him off, but he also screams ‘DAISY!!!’ throughout the house when there is something funny or important he wants to tell me. We both always tell the truth, unapologetically sometimes, but that's what we love about each other and also why he trusts me, I hope.” It should be obvious to anyone who reads this story that Daisy’s life has been changed by having Harvy in her life. Her focus has changed to a large degree. That often happens when you have someone like Harvy who has very special needs. Needs that are constantly changing. A person can change and will no longer sweat the small stuff in life because they become so focused on the task at hand. Daisy’s focus is on the things that she feels to be the most important. That is Harvy’s needs and that of her family. She shared this, “We have moved countries, left family, lost sleep, fought legalities and grown in ways that none of us foresaw. But I think we are all stronger because of it and we value our family dearly thanks to that. Harvy brings life with him when he enters a room, so we try not to dwell on the difficulties but appreciate everyday instead.” This writer sees in Daisy a person that has always been driven to achieve the goals that she sets for herself.  Toby the Beagle and his family! Life has changed for her but she is still driven to achieve. Maybe now not only for herself but also for the benefit of others. She never wanted to be a mom but now, she wouldn’t have it any other way. Daisy is stronger because of the things that they have had to deal with but also softer and more caring. She is changed because of the experience. What Daisy wants to do with her life going forward is a constant work in progress. One thing for certain is that she wants to help other parents of people with special needs in the future. Those with kids that have special needs (especially moms) can sometimes forget about themselves and Daisy says that can have a detrimental effect on the entire family. Over the years, Daisy has learned a lot about how to care for the body. This was in part for being able to take better care of Harvy but she has learned things that can benefit others. For example, Daisy went back to school at one point in order to gain her degree for being an Integrative Nutrition Health Coach. Daisy also shared this, “I want to establish a wellness space that allows special needs parents to come together to rest, recharge and activate their minds, bodies and souls so that they can care for both themselves and their kids.” Daisy says that helping a mom feel better and happier can carry on to her children and the rest of the family. Moms are so important to the well being of the entire family. She is an informed person and she knows the challenges that may lay ahead. Daisy chooses to remain positive though. There is no way to completely know what the future holds for this family but they’ve dealt with everything that has come their way so far. Has it been by accident that everything has fallen into place? Doors have been opened for them when they needed one to be there for them. Daisy used the example of the kids being able to move to the USA to be with family. This happened when things were becoming too dangerous in Mexico and they were having trouble getting Harvy’s medications. And there had been the time when they would find that enzyme replacement was available in Mexico, a place they had just moved to. This when they thought that they would have to move in order for Harvy to receive it. Harvy is fighting this battle with all that he has and he’ll give it his best. He does so with a great attitude because he chooses to and because he feels that his life is held in God’s hands. Who can argue against that? His parents are committed to seeing that Harvy has all of the help that he needs. Yes, they too love their special needs warrior with a love that is undying and there is a bond there that can never be broken. Every child with special needs is different in terms of their condition and longevity of life. They all, however, leave an imprint on us as individuals. They truly do change us by teaching us things that we never would have learned on our own. Harvy’s imprint on the lives of the people in his family is one that will last forever. I am wishing this family all the best and I am wishing that Harvy stays in the fight for a long time to come. Thanks for taking the time to read about him and his family. Sincerely,
~Greg Lopez~ Blogger and Advocate  Perfect Little Lady. "When we hung up from the call, I laid my head in my husband’s lap and wailed. How was I going to live? How could I care for my daughter, and now this small baby when I felt like I couldn’t breathe?" ~Gina Phaneuf Hubsch~ Scarlett's Mom and Advocate It’s been a while now since the time that I first became aware of the kids that battle. Passing by my line of sight up until that time were many other things that would catch my attention. The political scene and current events to name a couple of things. Sporting events and movies that I might like to watch were also things that would draw my attention. Then there’s work of course. Enough said there! Awareness came to me in a roundabout manner but once it did, my attention was shifted dramatically through the life of one little girl. It was through sharing my feelings about her with others that I learned that I had a certain amount of talent as a writer. I only know this because I’ve been told that I’m at least okay at putting words together. I am a person that is given to extremes at times. By that I mean that I will go the extra mile, and even further, for something that has my interest. Passion for a particular cause will drive me to extend myself beyond a point that I would normally go to. Once I was made aware of the kids that battle rare diseases, I quickly grew to love them. I have a son who has an ultra rare disorder but never have we been told that his condition is fatal. Even so, the amount of love that I have for him is substantial because of the bond that exists between the two of us. What if we had been told when he was young that his condition was fatal and that we would one day lose him? The type of love that I would have for Benjamin might be different in that case. My love for him would then be mixed with grief over what the future held. Can something be tragic and yet beautiful at the same time? It’s hard to imagine that it could be. It certainly wouldn’t seem that way to a person who finds themself in the midst of something considered to be tragic in nature. An outsider’s perspective may be different though. While doing their best to be empathetic to things noticed, a person on the outside might notice certain things. A person not involved might observe a type of love that is born out of the grief that is being experienced by others. I had done a story about a little boy and his sister earlier in my writing named Forever Royal. The brother and sister are from the UK and their names are Ollie and Amelia. Do you know who they are? I had used the term “A Beautiful Tragedy” at the beginning of the introduction to their story and then went on to talk about it. Here is some of what I shared (with minor changes in punctuation), “Concerning love, it is probably never displayed more boldly than it is in times of tragedy. Think about it! The emotions that pour out of these events are just so powerful, are they not? Something like Batten disease is so very ugly. Yes, it involves the most beautiful of persons and to me, their stories are the most beautiful. The course of the disease, however, is not so pretty. Even so, the bond that develops between the warrior and their caregiver is like none other. It produces the most beautiful details of pure love and devotion …. extraordinary devotion.” Over and over again, I’ve tried to describe a type of love that I’ve only been able to observe from a distance. I’ll never forget an opportunity that I once had while at a Batten conference in Denver, Colorado. It was only to observe due to a timorous disposition that often holds me back. I was sitting at a table in the dining room across from a dad and his daughter who had Batten disease. She was perhaps pre-teen to teen in age, maybe older and I wouldn’t guess as to what variant of Batten that she had. Whatever it was, she was at the point in her journey where she was incapable of feeding herself and her father was there assisting her. For him, it was just another day, another meal as a Batten parent. He was just doing what he was supposed to be doing as a warrior father but I was able to see from a distance what a hero this man was. I could see through this simple act, the love that he was pouring out towards his child. It’s an unconditional, undying type of love that would go to any length to do what is best for one who battles. That was what I was seeing in this father as I looked on from a distance. It is tragic that any child would have to take this type of a journey and yet, there is a type of love that will be on display along the way. Can you love someone so much that it hurts inside? That would be a profound type of love. It has to come from love that is mixed with grief over what is expected. It’s there in most of the stories that I’ve been allowed to write. Parents will be given the news that their child has something called Batten disease. The search for answers may have been lengthy. Other times, the truth is quickly revealed.  The latter is only spared the agony of not knowing for a longer period of time. In both cases though, the diagnosis brings with it the knowledge that your child has a disease that is fatal and for which there is not yet a cure. You fall to the floor! Days will then go by with parents feeling despondent as the hope they once had was taken from them. In every case though, whether picking themselves back up or being picked up by others, they do get up. They realize that their child needs their parents to fight alongside them, and for them. That is when the stories of an undying type of love are written. Even if not recorded in print, these stories are written on the hearts of people that take notice. Can there be joy in the experience? To me, the answer is yes, there can be and there most always is. The kids that battle are so resilient and amazing as well. Their smiles light up any room that they find themselves in and there is just something that is special about them. Maybe it’s just my feeling, but I do think that most people would agree. The way that they handle the things that life throws at them. Always bouncing back from the frustrations and setbacks that the battle can bring their way. Watching these kids battle day to day, even from a distance away, and knowing their plight produces feelings in us that can’t be denied. That is if we choose to pay attention. Am I painting a picture with words that seem bleak or am I just being real? Without stating my focus specifically, I try to write concerning the love stories that these kid’s lives produce. Two Small Town Kids  Two Kids from Mass. There is always hope as long as there are people in the research and medical fields that care. They are doing some great work and they do it for children just like a little girl whose name is Scarlett. Thanks for hanging in there with me as I’d like to start telling her family’s story. Gina Phaneuf and Jason Hubsch first met when they were both kids attending the 3rd grade. They lived in a small town named Grafton in the state of Massachusetts. Even though Grafton was a small town, it had a rich history. Part of it stemmed from being involved in America’s industrial revolution starting as far back as 1793. In the course of time, people in Grafton would one day be involved in the manufacturing of such things as high performance aircraft parts and even a substantial portion of the space shuttle’s undercarriage. There were many other things that would make up the history of Grafton but for Jason and Gina, they were just busy being kids. Both of them, after all, were just 9 years old at the time. Gina would move away shortly after that and you would think that would be the end of hers and Jason’s friendship. It should be apparent to all that Gina had left an impression on Jason. They wouldn’t see each other for years but Jason would one day track Gina down over the internet. They would make contact once again long distance in 2006 as Jason was then living in Florida. They were now both 25 years of age! Their relationship would continue to grow over the miles and then, Jason would one day move back to Massachusetts. Gina stated that she and Jason were opposites in many ways but that they actually fit together quite nicely. A friendship that had started all the way back in the 3rd grade had grown into something much more. Life would now be spent together as a couple that was in love. Both Jason and Gina were busy with their individual career goals and marriage didn’t seem like a high priority for either one of them. Things would one day change however, and it would happen as the result of a family tragedy. Gina shared that she would lose her younger brother as he passed away in the 3rd year of hers and Jason’s relationship. This would change Gina’s view on everything. She shared, “I was reminded of how short life was, and that I wanted to spend it with the guy who made me laugh on my saddest days. I didn’t care about when we got married, as long as we were on the same wavelength.” Gina went on to share that they would be married four years later, in 2013 and their marriage would take place in Cape Cod, MA. This was Gina’s “happy place” and the Cape would now become especially significant to this couple as their life together continued. Jason and Gina were happy in their life together and there was no place like home in Massachusetts. They were, however, a little tired of the snowy winters and had considered moving. This would happen when Gina was hired by an advertising agency in Texas. Jason and Gina moved there the next year, which was 2014. Still busy with fulfilling career goals, having children together was not high on their list of priorities. This is not to say that they didn’t want to have children at some point in the future.  Perfectly Beautiful. Gina knew inside herself that she would make an excellent mom one day but at this point she and Jason were just enjoying being together. They were enjoying their work life and leisure time while thinking, “if it was meant to be, it will be,” concerning children. Time would continue for this busy couple and one day they would be given a pleasant surprise. Perhaps it was a woman's intuition at play but Gina decided to take a pregnancy test one day. This was “just for fun” as she put it to me while taking the test in July of 2016. As it turned out, the result was positive. Gina and Jason were going to be starting their family together. All would go well as the months and days passed in anxious expectation. Anxious was probably the operative word in describing the months that led up to her baby’s delivery. This was because, at 35 years old, Gina was considered to be at an advanced maternal age. Even with this though, she looked forward to experiencing the joy of motherhood for the first time. As a planner and a Project Manager by profession, Gina decided it was best to have her baby delivered at a hospital close by where she and Jason lived. They decided to have the baby at Baylor, Scott, and White Hospital. This hospital was located in Grapevine, Texas and it was just 5 minutes from their home. Being so close to home would eliminate any concerns over getting stuck in traffic while on their way to the hospital. With an abundance of caution in mind, Gina’s doctor informed her that it was best that they induce labor and he told Gina what week the baby would be delivered. This would also allow them to pick the day that their baby would be brought into the world and the couple would choose the 11th of April. Why this date? There was actually a purpose behind it and that was that the day would be easily remembered. Those of us old enough to remember, know that we used to dial 411 on our phones to get the number for a business we wanted to call. We called it, “dialing information”. Gina chose the date of 4-11 in 2017 to deliver her baby, a date not easily forgotten. Another thing that is important to mention is the fact that Jason and Gina decided that they would like to go through Gina’s pregnancy without having the baby’s gender revealed to them. They instead wanted to be surprised and would choose both a boy and a girl’s name for their newborn baby. Except for Gina being nervous over her age (actually, she referred to it as being scared to death) her pregnancy would continue without any complications. The day would arrive for them to welcome their new little one into their lives and all would go well with the delivery. This was in spite of the fact that Gina was “scared out of her mind”. As the baby was delivered, her newborn was covered in a blanket and placed close by her. All Gina could see was a perfect little baby with chubby cheeks and dark hair. Her baby was indeed, perfect and flawless in every way but Gina still did not know the gender of her baby. Scarlett's Mama I’ll let her tell you what she was soon to find out, “I looked down at this incredibly tiny little creature, and asked ‘what is it?’.... My mother, who was on one side of me while my husband was on the other, leaned close to my ear and said, ‘It’s a girl.’ I smiled at that pink baby, and said, ‘Hi, Scarlett. I’m your mama.’ And, I fell in love.” At that moment, life must have felt perfect and complete as this family welcomed little Scarlett into their lives. She was given a beautiful name and she was in fact, a beautiful baby. She was perfect in every way and her parent’s expectations for her life were without limits. There was, no doubt, a lot of joy over the experience of becoming a family of three. This as they brought Scarlett home for the first time. Life for Jason and Gina had changed with this event and they looked forward to life going forward as the parents of their little girl. Scarlett would grow and become more darling with each new day. Her early development would be right on track as she reached each milestone just as one would expect. She began to talk just when she should and would crawl and begin to walk right on time. It seems that raising a child is never free of difficulties and there are always things that happen along the way. This is part of parenting and it’s usually just a matter of handling the challenges as they appear. For Scarlett and her parents, a concern would arise at around 18 months of age. Up until that point, she had been a sound sleeper but then things changed.  Beautiful Little Family. At that time, Scarlett started to walk in the middle of the night while screaming and according to Gina, she would sometimes do it for hours. Gina said that she would not be able to calm Scarlett down. Sometimes, she would sleep for an hour and then she would wake and start back up with the screaming. This would be traumatic for any parent who experienced such a thing. Sometimes but not always, Scarlett would run to her parent’s bed and snuggle in. Occasionally, they would find Scarlett just standing in the hallway of their home acting as if she had been sleep walking. Scarlett’s parents would take her to a sleep specialist who would diagnose her with having Night Terrors. The specialist provided Jason and Gina with some tools that they could use with Scarlett. Sometimes they worked and sometimes they didn’t. Gina shared that the situation would leave her “exhausted and worried”. As for Scarlett, her mom shared that she was still a happy little girl who was full of energy during the day. She was also full of personality and Scarlett would show herself to be an outgoing little person. Gina explains and gives us a great example with this, “She was incredibly friendly, and loved to give hugs to everyone. At daycare they would jokingly call her ‘The Mayor’ because she would greet everyone who walked in the door with a big ‘Hi!’ and a hug.” I am sure that Jason and Gina were proud of their little girl as she continued to grow into the person she was becoming. This, even with the concerns over her sleep issues. The other concern that they had with Scarlett was in her speech. Yes, she did begin to talk on schedule but she was difficult to understand at times. This was even though she talked a lot. As a result, Scarlett began to receive speech therapy as she was approaching 3 years of age. She would be diagnosed with speech articulation disorder in the Spring of 2019. This is common in kids within the United States with it affecting as many as 5 percent of children ranging from 3 to 17 years of age. Scarlett, in all likelihood, just needed some help with getting on track with her speech. There would be no way to know at this time that what they were seeing in their little girl could be signs of a larger problem. After all, Scarlett was just experiencing difficulties sometimes seen in other children. Although it wasn’t always a pleasant thing to deal with, the family became accustomed to handling Scarlett’s sleep issues as life moved forward. Things were good with Scarlett besides the challenges that had already been faced. That was up until the conclusion of Spring in 2020. The world had shut down in April of that year and everyone was dealing with the stresses associated with a worldwide pandemic. Of course this would include Jason and Gina and their families. There would, however, be another event that would take place in early June. This one would shake them as a family and things would never be the same afterward. The scene played out as the family was eating on the evening of the 5th of June. Gina begins with this, “We were eating dinner together, and Scarlett had cleared her plate (hot dogs and macaroni and cheese - her favorite), and I asked her if she wanted some more. She said, ‘Yeah!’ But then I looked at her and it was like she was looking through me. I asked Jason if her eyes looked funny and then I asked her if she was ok, and she said, ‘No’. I scooped her up and sat her in my lap. Her eyes were kind of darting from side to side, as if she were looking for something but couldn’t find it.” That is when Gina decided to call her mom who was a nurse back in Massachusetts. Gina was talking to her mom about what she had seen so far and that is when things went from bad to worse. Gina shared that Jason had been holding Scarlett and all of a sudden, “she kind of spaced out and went limp”. Like most any parent would at that point, Gina hung up the phone and dialed 911. Scarlett’s lips then turned blue and she started to drool as she stared into space. The paramedics would soon arrive but as they did, Scarlett had returned to being her old self. What Gina had termed as an “episode” had lasted between 5 and 7 minutes and then it was over. As the paramedics arrived and examined Scarlett they found that everything looked normal. They suggested that Scarlett had perhaps experienced something called a focal seizure and they advised Gina to have a follow-up exam done by Scarlett’s regular doctor. A Real Problem  Speechless. Focal seizures involve just one side of the brain instead of both and they tend to be less severe in nature. With Covid-19 in full effect, no one wanted to be anywhere near a medical facility, especially a hospital and yet, Gina would contact the on-call physician. She told the person on staff what had happened and what Scarlett’s present state was. Gina explained that Scarlett was acting extra clumsy and unlike her normal self, she was crying. Gina stated that they suggested that Scarlett be brought to the Children’s hospital, which was thirty minutes away in Fort Worth. The initial challenges, night terrors and a speech delay, were issues that could be dealt with over time. The occurrence of a seizure, however, brought the concern over Scarlett’s situation to a level that was distressing. Were these three different issues or was each issue part of something much larger in scope? In other words, were all three issues tied together? I don’t even know if a parent would be thinking in those terms at a time like this. After this first occurence, Scarlett would be scheduled to meet the Initial Onset Seizure Team in about ten days. This appointment would take place at Cook Children’s hospital in Fort Worth. Jason and Gina were asked to deprive Scarlett of sleep in order for them to perform an EEG. What they weren’t told is that the medical team was planning on inducing a seizure during the EEG. Much to Gina's dismay, they would be successful in inducing a seizure and Scarlett would have to be given rescue medication 5 minutes into the test. One can only imagine what it had to have been like to have had all of this thrust upon a first time mom. This, let alone any mom! Many of the details concerning what would take place during the EEG were not given until the event unfolded and there was still more trauma to come. Gina begins to explain, “We had an appointment with the neurologist immediately following the EEG, and it didn’t go at all as I expected. This was during COVID, so only one parent was allowed in the room with Scarlett. My husband was in his car in the parking lot attempting to listen in via video conference. Here, in this small room with a hungry child, I was told that my daughter had epilepsy and that they wanted to admit her to do an MRI and a longer EEG. I was a disaster. I didn’t know what any of this meant. I mean, if they wanted to keep her overnight, it had to be serious, right?” Receiving the news that your daughter had epilepsy would be bad enough but it would only get worse from there. So many times, the stress over dealing with the health concerns of a loved one can be made worse through issues with medical insurance. In Jason’s and Gina’s case, their type of coverage would lead to more stress and heartache. Because they had been a healthy family in the past, they had chosen to use a Health Share plan over conventional medical insurance. There was no way that they could have seen what was coming next. The family would be left in a room at the hospital for an entire 3 hours while hospital staff worked to sort out issues over their insurance. Gina stated that normally, they would always be admitted and the facility would send the bill to the health share who would then pay it. In this case though, Cook Children’s hospital didn’t recognize the health share and they refused to talk to them. While still in that room, and in tears, Gina received a call from the billing office of the hospital asking if she had $15,000 to pay for Scarlett’s admission. The average person would never have that amount of money available at their disposal and that would include Gina. She was then asked if she had at least half that much, or $7,500. Of course, the answer was still no and ultimately, Scarlett was not admitted after all of the time that was spent waiting. So instead of Scarlett undergoing additional testing at that time, she was simply sent home. The neurologist prescribed medication for her seizures and released Scarlett. Gina was also given a pamphlet on epilepsy to read at home. The staff member handing her the pamphlet was sure to point out the last page which talked about a condition named SUDEP. As if she didn’t feel bad enough at that point, Gina would learn about Sudden Unexpected Death in Epilepsy right as she was leaving the hospital. I can’t imagine how shaken Gina was with this experience but she in fact said that it was horrible and that she was “devastated”. Gina was devastated, but nonetheless, she wasn’t about to sit still! Jason and Gina made the decision to seek a 2nd opinion and do so with a trusted source. The family of three would return home to Massachusetts for an eight month stay in order to get help from Boston Children’s Hospital. This was intended to be a temporary move in order to get Scarlett the help she needed. Of course, COVID-19 would be a source of frustration but that wouldn’t keep them from getting help. Gina would get in contact with a great neurologist at Boston Children’s, doing video calls and calls over the phone anytime that Scarlett had a seizure. The neurologist would adjust Scarlett’s meds as needed and she would even do ambulatory EEGs. These are simply EEGs that are recorded at home while being monitored by the doctor remotely. These have the ability to be recorded for up to 72 hours. Getting MRIs and blood draws done was also possible but an actual in person appointment with another doctor wouldn’t take place until later in February of 2021. Prior to that time though, another event that needs to be mentioned would take place in September of 2020. That would be that Gina would become pregnant with their 2nd child. One can only imagine that the joy over the good news of a 2nd pregnancy would be mixed with the concern over Scarlett’s situation. You see it would be in December of that same year that Scarlett would begin to show other symptoms, learned later to be associated with myoclonic seizures. Scarlett’s first in-person appointment in Massachusetts would be with an epileptologist. Gina had requested this help after she and an evaluation team at Scarlett’s preschool noted that she was regressing in her skills. A Juxtaposition  Simply Beautiful! Scarlett, in fact, was regressing quickly and this was alarming to all who knew her. The epileptologist told Gina that they had to figure out the reason why Scarlett was having the seizures. She knew that there could be more than simple epilepsy at play here and she recommended that Gina speak with a geneticist. Scarlett needed to undergo an epilepsy panel genetic test in hopes of finding the answer so that a plan could be formed. Gina shared that she had joined a Facebook group for Epilepsy shortly after Scarlett was diagnosed with the disorder. She would stay connected to the group initially but then ended up blocking the group’s post. This was because of the horrible things that she would read. Gina shared, “One of the posts that I had read was from a mother who posted a picture of her daughter and said that they had just received a diagnosis where the doctor said that her daughter was not going to learn any new skills, and what skills she did have, she would lose. I remember getting that pit of nausea in my stomach over that post. For whatever reason, I was petrified, and later convinced that whatever that little girl had, my daughter had.” Gina would never go back to find out what this girl was diagnosed with. It was all, just becoming a bit difficult to digest but Jason and Gina would move forward with what had to be done. A week following the appointment in February of 2021 with the epileptologist, Jason, Gina, and little Scarlett would move back to their home in Texas. The staff in Boston would continue to monitor Scarlett and it would be in Texas that a sample was collected for genetic testing. Scarlett’s parents would use what is called a buccal swab kit for collection after it was ordered in Boston. A juxtaposition has to be one way to describe what Jason and Gina were going through at this time. There had to be feelings of happiness as Gina was getting closer to her delivery date. In strong contrast, there were anxious feelings associated with what may come with Scarlett’s situation and her future. Joy and anxiety intermixed and both present. Even with this, Gina’s 2nd pregnancy would go well and she would deliver her next baby without major complications. She and Jason would welcome a baby boy to join their family on May the 18th of 2021. He was born a perfect little man and the couple would name him Cody. Now present again would be all of the work associated with being new parents. At the same time they had a child who was regressing in her skills and who needed to be constantly monitored for seizures. The rest of life’s responsibilities didn’t stop for them either as life moved forward. Jason and Gina would also have to undergo genetic testing with saliva samples being collected for each of them. Just six weeks after Cody was born, on July the 2nd of 2021 a diagnosis was given by the epileptologist at Boston Children’s Hospital. This was done over a Zoom call in which Gina’s mom was included. With everyone together on the call, the family was given the news that Scarlett had the CLN2 variant of Batten disease.  A Father's Love. Batten is a rare disease for which there is yet no cure and it is fatal. Devastation is a word that one might use to describe what would be felt at a time like this. Gina shared what she was feeling with these words, “I was numb ….. Nauseous. My immediate questions were, ‘how long is she going to live and what about Cody’, who at the time was only six weeks old?” Gina continues, “This was a Friday, and I was scheduled to return to work from my maternity leave on that Monday. Our epileptologist cried with us. My mom had joined the Zoom call from her home in Massachusetts and was stunned silent.” As the call ended, the silence in the air was deafening except for the tearful emotions that poured out of Gina …. this as she had laid her head in Jason’s lap. It had been Gina’s intuition as Scarlett’s mom that something much more serious than epilepsy was responsible for what they were seeing in Scarlett. Now it was confirmed and life would never be the same again. With this news in front of them, Jason and Gina knew that there was only one place for them as a family and that was home in Massachusetts. They had once felt that they would be their own little family, placing their roots in Texas. The diagnosis of Batten disease changed all of that. Gina shared, “We agreed then and there that we would sell our home in Texas and move back to Massachusetts, not only to see one of the top neurological children’s hospitals in the country, but to be near family and make as many memories together as possible.” Dealing with something like Batten disease can be a very lonely experience and having family nearby can be a big help. Being home was best in this case and going home is what they would do. Gina had been anxious and worried at the beginning of her pregnancy with Scarlett. I had shared earlier that some of those feelings were due to her “late” maternal age but there was more to it than that. When Gina found out that she was pregnant for the first time, her thoughts included the passing of her brother who had passed from this life at only 20 years of age. She remembered how painful it was for her whole family and she didn’t want that type of tragedy to be possible again. Gina shared, “I was so afraid to open my heart like that, and to be vulnerable to that kind of hurt.” And now, Batten disease was present in the family. Gina stated that she was “paralyzed with fear” after the diagnosis. She thought about what the future would bring because of Batten disease. Gina went as far as to avoid looking up the Batten on the internet for fear that it would reveal things that she would rather not Know or think about. That being the things that concerned her daughter’s fate. In every story that I have written about the families that battle alongside their young warriors, there is always a type of transformation that takes place. Bewildered, dismayed, and heart-broken are all words that would describe how a parent might feel in the days after being told that their child has Batten disease. Dazed and feeling hopeless, the realization will always set in. As a parent, you have to fight for your child. You have to help them battle and that is always what is realized. Needing to Breathe  Stunning pic! In Gina’s case, a change of perspective is what would bring her to where she needed to be. She explains, “I knew I couldn’t live like this. Especially since I now had a newborn to take care of as well. The only way that I was going to be able to move forward, to breathe again, is to not look at Scarlett like a ticking time bomb.” Gina shared that for her and Jason, they just decided to take each day, one day at a time. Even with the feelings of being overwhelmed, Jason and Gina would do whatever they possibly could do for their daughter. If there was a silver lining at all, it is that there was a treatment available for Scarlett. CLN2 is the only variant of Batten disease that has this treatment available. Damage takes place with Batten because of an important enzyme that is missing in a child’s brain. The enzyme is responsible for ridding brain cells of wastes that instead build up and do great harm. Understandably, doctors urged Jason and Gina to move quickly in getting Scarlett started with enzyme replacement therapy. Gina shared, “The problem is trying to absorb all of the information. You’re told that your child is dying and it’s the worst type of death that is slow and painful. But now you also are told that they need brain surgery where a port is going to be put into their brain. They will then receive a full day of enzyme replacement every other week for the rest of their lives.” What a whirlwind of events it sometimes is for the parents that receive this type of news. The need to rush without stopping to assess the situation completely rubbed against the grain for Gina.  Siblings! Her entire career involved planning and careful consideration and now, Gina was being told that they needed to act quickly. She hadn’t even had time to absorb the information and it was …. a lot of information. Their daughter needed a surgery that involved placing a port in her brain. What parent wouldn’t be alarmed by this? Gina shared that there would be hurdles to jump over to even get started. They first needed to find a doctor that was familiar with doing infusions. Of course, one of those hurdles would be getting insurance approval. A good thing is that the surgery for placement of the infusion port could take place first. This could be done while the rest of the details were ironed out. Gina continued with this, “Batten is so rare that we were told if you find a doctor that has dealt with two patients, they are considered an expert. While it was ‘easy’ to get started with the infusions (BCH did have one other patient that had been getting them for the last 6 or 7 years) it was still a learning process for all of us. This included the nurses and nurse practitioner that does our infusions.” If all of this wasn’t enough, an incident would take place roughly five months into the infusions. What happened was that Scarlett would wind up with meningitis. Jason and Gina almost lost their daughter at that time because of it. Gina shared that Scarlett’s port had to be removed, and the infection cleared before a new port was put in. The area had to heal before Scarlett could resume the infusions and this would have consequences. Scarlett missed three infusions and in that time, she would lose her ability to walk on her own. It was devastating to Jason and Gina to have this happen to their little girl. Like most families who battle Batten disease, the Hubsch family would settle into a new normal of sorts. This as Scarlett settled into her regiment of bi-weekly infusions. Scarlett is another one that will amaze you and also melt you inside. Have you noticed her smile? These kids are the most special. The way that they will maintain a kind of joy that is possessed by the average child. Even with all the adversity that they face, they always bounce back to reclaim that childlike joy. The battle that is Batten can’t keep these kids down. And yes, they do produce in us feelings like no others can. What about Scarlett’s little brother Cody? Gina shared that he is, in many ways, an opposite to Scarlett. Much like Jason and Gina, Scarlett and Cody compliment each other because of their differences. Cody sounds to this writer to be the Mister Personality type. Gina says that he is super chatty and kind of sassy, even though he also loves a good hug. Oh, and he loves food. In fact, Gina shared that he is a black hole for food in general. Concerning Batten, the coast is clear for Cody. They also did a buccal swab genetic test on him and that revealed that he is only a carrier of the mutated gene that causes Batten. Gina says that she is thankful that Cody came into their lives at the time that he did. Had they known of Scarlett’s diagnosis beforehand, their decision to have another child may have been influenced by this news. One could certainly understand why. Battling Batten is not easy! It is demanding on everyone in the family, even siblings. This battle has changed things for the Hubsch family. They thought, at one point, that they would continue to live and grow as a family in Texas. They loved it there and loved the house that they had bought but they felt that it was best to return to Massachusetts. This was only because of Scarlett’s diagnosis. The move back home would entail finding new doctors and new schools while searching for that “new normal”. At least now, they had familiar friends and family nearby to lend them the support that they had sought. Batten changed the way that they live their lives. Gina explains, “We no longer really ‘dream’ about the future like we used to. I have no idea what the future has in store for us, and it’s beyond my control for the most part. We have no ‘goals’ to really strive for like we did prior to Scarlett’s diagnosis. We live for today and the now, and are very conscientious about the kinds of memories we’re making for Scarlett and as a family.” I feel that their outlooks may change over time but Batten’s impact has made a difference in this family’s plans. How can you know how to plan when the future seems so uncertain? You just know that there has to be good times to go along with the bad. I am certain that sweet memories are being made most days. I know that the love that they have for one another as a family grows with each new day. Their bond with Scarlett will grow into a love that is undying and there will be a lot of sweet time spent together. Simple Accomplishments  Gina continues with this, “I should add that our days are not all filled with sadness and dread. We’ve learned to find the simple accomplishments … A new word, independent steps, and eating without incident to be some of our greatest pleasures. We’re proud of our girl and her fight and persistence. And her love for everyone that she comes into contact with.” These kids, I’ve told you, are the most special and the most amazing! Like many of the parents who have children that battle Batten, Jason and Gina seek to be advocates. This is for the others in the Batten community, as well as their daughter Scarlett. Gina especially is being stretched by all of this and she explains a little here, “As a mom, I’ve always been very organized. I now feel as though I’m drowning all the time. For every success that I have with Scarlett’s advocacy, there are three items that I didn’t get to on my list.” Remember, Gina is a project manager by profession. She continues, “I feel so behind, and like I’m never doing enough. I’ve had to put myself so far out of my comfort zone as it relates to asking for and receiving help. I’m a fairly private person by nature, and I’ve had to expose these very personal situations and feelings to the public.” Gina adds that she does it gladly knowing that telling others will only do good things for Scarlett. She knows that spreading awareness can help impact her family and the others that are a part of the Batten community. Gina adds concerning Scarlett. “She is a happy, social, and loving girl, and what a shame it would be for someone to not get to meet her because I chose to keep our sadness hidden. I do it for her. The more people that surround her, the happier she is.” Gina shared that Jason is also involved in spreading awareness concerning Scarlett and Batten disease. Jason had business cards made up with Scarlett’s picture on them. He and Gina hand them out to people that they meet, telling them about their daughter’s battle with Batten. Jason also maintains a website that tells others about Scarlett. People can follow Scarlett’s journey while getting updates at www.scarlettstribe.com. Merchandise is also available on the website in the way of t-shirts, stickers, and yard signs. The proceeds are used to support Jason and Gina’s “mission of joy” for Scarlett. Again, a lot of this takes Gina out of her comfort zone but she does all things willingly out of the love that she has for her daughter. Just like with every family that battles CLN2 Batten, there is a regiment of extra activities that is constantly evolving. There are the infusions that take place every two weeks and doctors appointments. Medications can change frequently for seizure control and other things. There are therapies and a host of special needs. The need for new pieces of equipment can come into play in the course of the child’s journey as well. The list goes on. There is so much to this story that is yet to be written. The details of a love that is undying are yet to be filled in and the bond created will then be stronger than most any other. There will be times of great joy as Scarlett will amaze those who take notice. Hearts will be changed as people are made aware. Then they also will know that these kids are the most special and the most amazing. There will also be times of difficulty that will bring with them the love and respect of many. Scarlett’s life will change the lives of others, especially the lives that make up her own family and friends nearby. Gina shares more, “This child has brought out emotions in me like I could only imagine. I would (and still do) belly laugh when playing with her. I did (and still do) cry when I’m worried about her. I would give anything to my daughter. Anything to make her happy, or in this case, to make her feel better. Unfortunately, the only thing that I really can give her is my heart, making sure her joys become my joys and her pains become my pains.” There is always hope and good things can happen. There are people whose life work revolves around looking to bring about a cure for CLN2 Batten disease. This variant is among the most common, affecting little people like Scarlett across the globe. Gene replacement therapy seems to be the thing that brings the greatest hope for a cure and a clinical trial for it has been said to be taking place soon. It can happen. Hope is alive! In the meantime, kids like Scarlett will continue to produce in us feelings like no others can. This is especially true when it comes to people like Scarlett’s mom and dad. Gina shared what a friend once told her, “‘Having a child truly is like walking around with your heart outside of your body’ …. and now I know exactly what she meant.” This is actually a well known phrase in mom circles. I had to look it up! Your own heart is extended outside of your body to your children when you are a mom. Their hurts can make a mom’s heart ache in a fierce type of way. This is especially true when you have one that battles. It’s difficult to breathe while taking each day, one day at a time. Especially when that child is one like Scarlett! Thanks for taking the time to read Scarlett’s story!
~Greg Lopez~ Blogger and Advocate  A Real Princess! ~ ¡Una verdadera princesa! “We went back home finally and I remember being at work and getting a phone call from the doctor saying our daughter may have Batten disease. Batten …. What is that? How? why? I looked it up really quickly on the internet and I just fell on the floor.” ~Estela Rosko~ Frankie’s Mom and Advocate The thing that I find most striking when I write about the kids that battle are the love stories that their lives create. I do think that these stories may spread a bit of awareness concerning Batten and other rare diseases but that was never my objective. One thing led to another and I just started to write. I really wanted to honor these children and their families and I’ve also learned some things along the way. One of the things that I’ve learned is that there is a type of love that is like none other. It’s been a while since some very special words were told to me and those words created a moment that I will never forget. It’s been sometime since I’ve chatted with a FB friend of mine named Shannon but I know that she won’t mind me sharing something with you. That is the words that she had placed in my chat window. Shannon was the mom of a son who had a terminal condition that left him bedridden, oftentimes in the hospital. Most days, Shannon would stay by her son’s side until the day of his passing. These situations can play out without the knowledge of the outside world, in fact, they most often do. Special families like this can live in isolation. This is what Shannon said to me on one particular day, “All we can do is show these kids our undying love”. That is a phrase that has never left my consciousness and it is one that I often refer to in my writing. Those are Shannon’s words, not mine and they have helped me to better explain what these families are feeling. When love is mixed with grief, it becomes a profound type of love. One that is undying. A bond is created. It’s a bond that is so strong that it can never be broken. The love that you have for a child never dies and it only becomes intensified at a time of loss. It can become a love that hurts even before the loss takes place. Time will pass but that connection always remains, no matter what. It always amazes me what the parents of a rare child will do to help their young warrior(s) battle. There is no distance that they will not travel in order to find help. There isn’t a need that is so large that they won’t do everything in their power to fulfill it. Nothing is more important. Not a career or a house, or any ambition will get in the way when finding that help is possible. I’ve often shared with my readers the fact that I am the father of a son who has special needs. I’ve also shared recently that my son Benjamin just received a diagnosis for his disorder in the last few months. We now know that he has PACS2 syndrome with the answer being found through whole exome genetic testing. Benjamin was 32 years old when he received his diagnosis. What was it that drove me to find a diagnosis for Benjamin at such a late age? I was actually prompted by a day program provider who gave me a list of concerns that she had concerning my son's health. The swelling in his legs had her concerned about the condition of his heart and she was also concerned about diminished mobility. The thing that really caught my attention was a concern over some supposed cognitive decline. In her opinion, my son was not doing everything that he once was and he was losing interest in things that he had liked doing in the past. Having knowledge of kids that decline cognitively and what that can mean caused me great concern. Please forgive me for trying to draw an unfair comparison but I just wanted to share what I was feeling at the time I looked at her list. That was that we could be in the process of losing our son. I remember this sinking feeling inside of me. I was thinking that his decline meant that we would soon be without him. I shared those feelings with my wife and she agreed that losing Benjamin was always a possibility. Why is it unfair to compare ourselves to a rare disease family in this situation? It is because most of them would love to know that they had 32 years or more with their child in front of them. For me though at that moment, it was an awful feeling. We still don’t know what Benjamin’s future holds. This is because he is one of the oldest known cases of PACS2 in the world. We are providing more answers about the longevity of these people than we are receiving from others. Even so, we’ve been blessed to have him all these years. Benjamin’s life is a love story also. So often have I stated that while some things have been sacrificed to keep my son in our home they are nothing compared to what a rare disease family will experience. When they receive the news that their child has a disease like Batten and they learn what this means, it brings extreme devastation and sadness. Unlike a temporary feeling like I had experienced, these parents' hearts are broken in a way that is lasting. That is why the families that battle have our heartfelt love and respect. A Romantic Beginning  Romantic Beginning. ~ Comienzo Romántico. Most of the stories that I’ve written begin with this theme and it’s sometimes written in words like this, “two people meet and fall in love”. Love begins when we notice someone and an interest sparks inside of us. We then decide that the person opposite of us is someone that we can’t live without. We have no idea at that point what life will bring to us. However, one thing that we do know is that this is someone that we want to go through life with, no matter what life might bring.There will always be challenges along the way as this is part of living in this world. At that moment though, all we think about is that we love the one we’re with. People normally make plans for their future. Sometimes, they just move forward as the future reveals what life will bring. Things can change drastically through a chain of events or circumstances not seen and the course of our lives can be altered. This is so often the case and that leads us into this next story. This one begins with the story of a young lady named Estela Gutierrez Olmos. Estela was born in a little fishing town in the state of Veracruz in Mexico. When she was 17, her family moved back to her mother’s hometown of Guanajuato. There, she was surrounded by a big extended family but she herself was an only child. Estela’s life was carefree and happy overall as she grew up and her life continued to take shape. One day, she would begin to attend college at the Universidad Santa Fe. Her college was located only about an hour away from where she had lived and this allowed her to see her family on the weekends. Estela would be successful in gaining her four year degree in tourist business administration and this would be a perfect education for what she wanted to do for a career. Estela was quick to find a job at a restaurant near where she lived and this would allow her to start saving. It would not be long before Estela would land a position at a hotel in Cancun, Mexico. Her savings from the restaurant job would help with traveling to her new position and this had to be an exciting time for her. There would be much that would take place in Cancun in the not too distant future and Estela couldn’t wait to get started. Life would continue on and she would prosper in her job and in life for the next couple of years. It was in the year 2005 that Estela would meet the person that would one day be her husband. She had no way of knowing that at the time though. Brian Rosko was serving in the United States Marine Corps at the time that he and Estela would meet. He was working as a security guard in Havana, Cuba but found himself there in Cancun at the time of their meeting. An interest in each other would take place but each of them were busy in their individual careers which were in two different places. And still, a friendship was formed and they would both stay in touch through phone calls and emails. For Brian, it was love at first sight with Estela approaching the relationship with caution. For Brian, it was more than just words as he would be back to visit Estela just a couple of months later. He would take her on a date to Margaritaville where they would talk. Over time, Brian’s love for Estela would be proven through his actions.  A Beautiful Story. ~ Una hermosa historia. Brian was getting ready to transfer to Germany and they decided to continue to stay in touch. There was definitely a mutual interest in each other and they wanted to see if it would be lasting. Both Brian and Estela knew that a relationship from such a long distance away may not survive. Estela especially as she didn’t believe that this type of relationship could last. However, in the course of time an event that would change everything would take place. It was on October the 15th of 2005 that Hurricane Wilma would hit Mexico. Cancun was greatly affected and that would soon change the circumstances surrounding Brian and Estela’s long distance relationship. Cancun was destroyed and Estela would be forced to live in a shelter before she could leave. One of the girls that she lived with was from England and her friend had planned to return there soon. This gave Estela the idea that she would like to go to England with her friend in order to try the job market there. Let’s use Estela’s own words to share what the result of this decision would be, “I decided to go there with her to try my luck. I have to say I had not too much luck with work but, I found love…”. And indeed she did. Brian had already been in Germany when Estela had gone with her friend to England and her birthday would soon roll around in November. Brian sent flowers to Estela for her birthday. In fact, he sent them twice in order to make sure that she would receive them and she did. In Estela’s own words, “the rest was history”. A month later, Brian had asked Estela to come visit him in Germany and she would make the trip to see him. Estela shared with me what happened when she took that trip and here is how it was stated to me, “I found in this man another kind of love. A selfless, mature, and beautiful love. And I got to say we fell in love with each other. He never gave up and I decided to give love another chance.” Brian was sent to Africa after 6 months and Estela returned to Mexico. Their relationship would again be tested as they had to be separated from each other for an entire year. The demands of the military can be difficult on relationships and they both knew that. They both felt that if the feelings remained, they would one day be married. Their relationship was meant to be a lasting one. A relationship that would pass the test. Some months later, Estela received flowers all the way from Brian in Africa and they included a marriage proposal in spanish. Surrounded by family on August the 11th of 2007, the couple would be married in Guanajuato, Mexico. With their vows exchanged as family looked on, Estela would move to the United States with Brian. Their life together would begin and Brian would continue to serve in the Marine corps. Together, they would travel to duty stations all over for the next five years while enjoying Brian’s off hours together. How different was this than what Estela had originally envisioned for her future? It must have been so much fun to see so many different places together. This while their life together continued and their relationship grew. They also discussed the future. Building a Family Their plans for the future of course included building a family together. This is something that Estela desired, especially because she had been an only child. Brian and Estela’s desire to begin a family would start to become a reality after that first five years of marriage. It would be in the Fall of 2012 that Estela would learn that she was pregnant and both her and Brian were very happy to receive the news. Her first pregnancy would go well overall and the day would arrive that Estela would give birth to a baby boy. They would name him Luciano. Their first son was born in Okinawa, Japan on July 26th of 2013. Both mom and dad were very happy and their life together as a family was really taking shape. Estela loved being a mom. That was something that she had always wanted and having a big family was part of what she had wished for. It wouldn’t take long for the size of their family to increase. Estela found out that she was pregnant for the 2nd time when Luciano was six months old. Again, her next pregnancy would go well. She would also carry this next baby without complication. Like any expecting couple, Brian and Estela would look forward to having another child in their home. This, even as they enjoyed their time with baby Luciano. The day would arrive and this time, their 2nd child would be born in Albany, Georgia in the United States. The date would be January the 9th of 2015 and Estela would give Brian another son. This little baby was perfect, with all of his fingers and toes, and they would name him Geronimo.  A Perfect Baby. ~ Un Bebé Perfecto. Brian and Estela’s attention was now being given to two sons and life together was good. Their romantic beginning had blossomed into full fledged family life. Estela was busy at home while Brian continued in his career as a Marine. They enjoyed what they now had and would wait a couple of years before increasing the size of their family. As those two years passed, they started to talk about maybe having another child. They didn’t know it at that time but Estela was already pregnant and expecting baby number three. This news did not disappoint them as it was something that they had desired for the future of their family. Luciano and little Geronimo were both growing and thriving, each in their own way as the days continued on. Each of Estela’s pregnancies with her two boys went well but the next one however, was really stressful. This was because she was told that her next child may be born with Down syndrome. What do you do in such a situation? Estela shared that there were some really dark days for her. She had days of confusion and she had so many questions that needed to be answered. There were also brighter days that were filled with joy. She was going to have another baby and it was very possible that her new little one would be happy and healthy. That was the hope that she was clinging to. The other issue was that Estela had a condition called placenta previa. To make a long story short, her baby’s placenta was not formed with it being placed in the most desirable position. This can lead to a lot of bleeding in the expecting mom and that is also something that she had to deal with. This would all make for some depressing days but Estela worked her way through it. Finally the day would arrive, that day being September the 21st of 2017. Estela’s first child, Luciano, had been a hard delivery. This was because of Estela’s small frame. Her pelvic bones were too narrow and she was in labor for a long time. Her next baby boy would be delivered by Cesarean section as a result and so would be baby number three. The concerns over the placenta previa would only add to the doctor’s worries and the need for another C-section. She would also need a blood transfusion after the delivery. All of the concerns that Estela had to overcome were swallowed up in the joy that she would experience after delivering her’s and Brian’s next child. This time, Estela gave birth to a baby girl. She shared what her words were as her new daughter was delivered. Estela said, “I remember the first thing I asked my husband after I heard her cry. That was, is she healthy? Tell me please that she is healthy.” Estela shared that Brian then came over with a beautiful and perfectly healthy baby girl. One that would have the two of them wrapped around her tiny finger from that day forward. Yes, she was beautiful and perfect in every way. She was born at the Naval hospital in San Diego, California and they would name her Francesca Louise. This was to honor the memory of Brian’s mother and it was a beautiful name. The new princess of the family would become affectionately known as Frankie. Things would go perfectly with Frankie’s health in her beginning years. Estela shared that she had struggled with postpartum depression with both her boys but that was not an issue for her with Frankie. This special little girl had made all of those kinds of feelings go away and Estela’s days were filled only with love and happiness. She felt as if Frankie’s life was meant to be and who could argue that this is the case. Frankie would continue to grow and develop, reaching all of her milestones and her future looked so bright. As a family, they had grown together. Life was busy but overall, it was wonderful. Things were just as you would expect for a young family. Then came the early months of the year 2020 when Covid-19 began to impact everyone’s lives. Brian, Estela, and the children had to move from San Diego to the state of Florida. They would have to sell their house and move in what were the very stressful days of a worldwide pandemic. At the beginning, there were restrictions placed on children’s play at parks in Florida but then some of those restrictions would be lifted. Kids would begin to play and interact with other people again and that is when they would notice something different about Frankie. It was at that time that Estela noticed that Frankie was not at the same level as her peers. She wasn't performing at the level of a 3 year old. Frankie couldn’t climb by herself, swing, or go down the slide. What was also noticed is that her speech wasn’t at the same level as the other kids. It wasn’t there as it should be. A Nightmare Begins  So Sweet! ~ ¡Tan dulce! Estela did what most any mom would do once all of this was noticed and that was to take her daughter to the doctor. The doctor recommended speech therapy. Estela didn’t worry too much about the speech delay and perhaps Frankie was just a little slower at developing new skills. In regards to her speech, Estela thought that the fact that two languages were spoken in their home had something to do with the delay. These were things that could be overcome in time but then, it all became more complicated. An event would take place that would shake Estela and Brian as well. Estela shares in her own words, “The nightmare started one morning in February when I felt the bed shaking, it was my daughter having her first seizure.” Anytime that a child has a seizure, it’s a signal that something isn’t right. There is something abnormal going on with the child’s health or it’s a symptom of a condition yet unknown. Either way, a seizure is a very frightening occurrence. It was a morning in February of 2021 and Brian had left for work. It was fortunate that Frankie had slept with her parents that night, otherwise it may not have been noticed. Estela could feel the bed shaking at around 6 a.m. She didn’t know exactly what was taking place but she knew it was serious. Estela called Brian and asked him to return home and they would take Frankie to the hospital. By that time, the staff at the emergency room couldn’t tell if Frankie had experienced a seizure or not, even if it had been suspected. They urged Brian and Estela to check in with Frankie’s pediatrician and then released them to go home. The pediatrician also found it difficult to know if a seizure had occurred in Frankie but that would not be the end of it. Frankie would have a 2nd seizure, this time shaking violently and throwing up as well. All of a sudden, life was so different. Something had happened that parents would never expect to take place. All of a sudden it was felt that things were not the same. Life would be different. The family would spend the night in the emergency room this time as the staff performed testing. Everything looked okay at the time that they tested Frankie but they felt that she may have epilepsy. Frankie would soon be referred to a neurologist for further care and testing. A 3rd seizure would take place in the course of time but it was the 4th seizure that Estela shared had “scarred” her for life. This actually happened when she was driving home from the neurology appointment in Ft. Lauderdale. Estela was on the highway and everything looked fine at the time. Then, a few minutes later, she looked back at her daughter in the mirror and she could see it coming. Estela pulled off at the nearest exit but Frankie had already turned purple by the time that she could reach her daughter. Estela thought that she had lost Frankie. In fact, she shared, “To this day, this has been the most horrible feeling I have ever experienced.” Estela called 911 and as they coached her, the paramedics would be on their way.  She's a Little Beauty! ~ ¡Ella es una pequeña belleza! Minutes later, they would arrive and would transport the princess to the emergency room. The doctor that day again felt that Frankie was suffering from epilepsy. This made perfect sense at the time, especially since epilepsy existed in other people within Estela’s family. It was after this that Frankie’s neurologist wanted her to undergo an entire panel of tests that he called “the million dollar testing”. Francesca would be admitted to the hospital for a week in order to undergo all of this testing. During that time, every test that was being performed would result in a negative finding. However, the EEG that was performed did look somewhat abnormal and because of this, the neurologist would order genetic testing for Frankie. As was mentioned earlier, Estela had noticed a speech delay in Frankie along with some delay in the development of her skills. This after she was exposed to children her own age when certain restrictions were lifted. The difference was noticeable but it was felt that it probably had to do with Frankie’s environment. She was also having some behavioral issues and was scared to be around other kids. Never would Frankie’s parents have thought that all of this put together pointed to something more sinister than simple epilepsy. They had no way of knowing that these individual symptoms were pieces of a puzzle that would soon be solved. The answer would be revealed as genetic testing was ordered at Broward Health hospital in Coral Springs, Florida. It was decided that using the swab method and collecting saliva was the quickest way to do the genetic testing. This was done through a well known company named Invitae Medical Genetics. Frankie and both her parents would be swabbed and the samples sent through the mail. Receiving the results for genetic testing can take a few weeks but sometimes it can be much longer if delayed. As would be the case with the Rosko family, the lab was on top of things. Invitae generally provides excellent service. The results would come back only weeks later but there would still be time to wonder. I know of so many stories in the past where families would have to wait an extended period of time. This was sometimes because of either mistakes that had been made or because of a lack of urgency within the system the family was working with. In this case Frankie’s neurologist would make sure that everything got expedited and he would stay by the family’s side until an answer was found. When the test results came back, they showed that two mutated copies of the tpp1 gene were present. Both mom and dad had a form of this mutated gene. This is the gene that is affected when a rare disease named Batten is present in a child. The neurologist would call and tell Estela that Batten disease was a real possibility but that more testing had to be performed. Just like it would be with most any mom or dad, Estela had never heard of Batten disease. She did what anyone would do in that situation and that is to look the disease up on the internet. A Battle Not None  A Mother's Love. ~ El amor de una madre. Estela shared that the prospect of Frankie having something like Batten caused her to fall to her knees. How could this be possible? In an instant Frankie’s situation had changed and had become much worse. Epilepsy was something that they could live with but the information Estela read revealed the worst possible situation for her daughter. This disease was fatal and it had no cure. With Batten disease, the body is not able to produce an enzyme that is needed for ridding certain cells of waste. This waste instead builds up in the body and it does great harm. Frankie would have to be tested again to learn what level of this enzyme her body carried. She and her parents would meet with the geneticist to go over the findings of the first test. Frankie would then have her blood drawn, this was in order to check her level of the tpp1 enzyme. The results from this test would take another three weeks to come back. It was then that Estela would receive a call from the geneticist who had the results concerning Frankie’s level. Her enzyme level was low. At first, Estela thought that this was a good thing but once explained, she was devastated. Frankie had a level of only 9% of the tpp1 enzyme. Estela’s little girl had the CLN2 variant of Batten disease. That day was June the 3rd of 2021 and for Frankie’s mom and dad, it was the worst day of their lives. Both of them knew that things would never be the same. What had begun to become a whirlwind of events would only continue to grow in intensity. Estela asked the neurologist about what the next step would be, even knowing that surgery would be coming. CLN2 is the only variant of Batten disease to date that has a treatment available. Enzyme replacement therapy is possible once a port is surgically implanted in the child’s head. A solution named Brineura is then infused into the child’s brain through the port every two weeks. The only problem is that this surgery and the corresponding treatment is not available at every hospital throughout the country. It was not available at a hospital near the Rosko family and this left Estela with feelings of anger and desperation. Frankie’s neurologist tried to move mountains in order to make the treatment available in their area but he was not successful. The family would somehow have to get Frankie to a location where it was available. They would discover that their very best option was to go to Ohio, specifically Nationwide Children’s Hospital in Columbus. Estela’s aunt had done some research and had found a physician named Emily De Los Reyes in Columbus. She was an expert in knowing how to treat CLN2 Batten, being greatly involved in the start of enzyme replacement therapy for these kids. That was the place that the Rosko family needed to take Frankie. Estela asked Fankie’s Brineura counselor if they could go to Ohio for this life changing treatment and the answer would turn out to be yes! The speed at which everything moved in Frankie’s case was both amazing and critical. The faster a child can get started with enzyme replacement, the less the total regression of the child at the start of their journey. That is why an early diagnosis is so important. The Rosko family would make the trip to Ohio and they did so at whatever cost because of love. Frankie would have appointments all week after being accepted. Her surgery was June the 11th of 2021 and her first Brineura treatment took place on the 21st. Can you imagine how drastically life had changed for this family in such a short period of time? I wanted to use Estela’s words in a quote to show what she was feeling from the day of the diagnosis forward. This as they were forced to take action so quickly. Here is what Estela told me, “That day, something in me died. I remember it was like a sand castle that somebody had stepped on. These were the most sad and dark days of our lives. Mine and my husbands, and I’m sure my family’s too. But, we picked ourselves up, grabbed our precious little girl and went to Ohio to get that surgery done.” It happened so quickly but this is generally what happens with each parent that receives this type of news. It all begins with shock and great dismay when they find out that their child has such a horrific disease. The initial feelings are then pushed to the side although the sadness continues. There is then a determined type of strength that takes over as action is taken. Estela continued with this, “I saw it as a burden to have to travel to Ohio but it’s true, that saying that everything does happen for a reason. We were met with the best doctors we could ever ask for, the best nurses , the best care, and the best people.” Any Distance for Frankie  Father and Daughter Time. ~ Tiempo de padre e hija. With Frankie at their side, the family would travel to and from Ohio for about four months in order for their princess to undergo the treatments. The cost of this type of thing, financial and otherwise, is always tremendous. This was especially true because the trip had to be made every two weeks. The entire time, Frankie not only had the staff at Nationwide Hospital in Ohio working for her but also her team of doctors in Florida. Both her pediatrician, Dr. Lopez and Frankie’s nurse practitioner Mendez were working to have the treatments made available closer to home there in Florida. They would be successful and the Brineura treatment would soon become available at Jackson Memorial Hospital in Miami. Their days of being in Ohio for the infusions were over, or so they thought at the time. Knowing how loved Frankie was by the staff, the Roskos were sad to be leaving Nationwide children’s. They were however very happy and relieved to know that the long trips were over. The days of being separated as a family were over as well and that was also a relief. There would be more that would take place that would affect Frankie and her family. A concern that every family has when they battle CLN2 Batten is that their young warrior will one day lose his or her eyesight. A clinical trial has begun recently that works to help avoid the loss of eyesight in a CLN2 Batten child. This is in addition to infusions for enzyme replacement therapy. Estela had heard about the trial during Frankie’s first infusions as a doctor had mentioned it to her. Estela of course wanted this treatment for her daughter but she was told that the trial was by invitation only. Not only this but Frankie would have to qualify as well. The family would take Frankie back home to Florida after her latest treatment and would then be back in a couple of weeks for the next. This time, the ophthalmologist would examine Frankie to see if she would qualify for the trial involving the treatment of her eyes. The answer would turn out to be yes and for this, Brian and Estela were grateful. The only issue now was that they would have to start to travel back and forth again, from Florida to Ohio. When asked if they were willing to travel, the Roskos would of course say yes. They already knew how difficult the trips were but they were willing. Brian thought that this was the time to talk to people within the Marine corps to see if there was something that he could do nearby in Ohio. In other words, he wanted to see if he could get a transfer on a humanitarian basis. This would allow them to move to Ohio as a family while being relieved of the stress of traveling so often. Much to their satisfaction, Brian would end up being granted a transfer to Ohio. They would move in the Summer of 2022 after the kids completed their school year. Oftentimes, the circumstances of a single child or other family member can affect the lives of everyone in the household. This is especially true when we are talking about the needs of a special child. They also sometimes take attention away from their siblings.  A Child's Joy! ~ ¡La alegría de un niño! Frankie’s diagnosis brought with it some drastic changes and a big one was having to leave a place that the entire family loved and was comfortable living in. Frankie is so loved though that this family would have done whatever it takes to get her what she needs. This was in order for her to battle Batten to the fullest and it included starting over in an unfamiliar place. They also moved to a climate that was not as comfortable for someone like Estela, having lived in a warm place like Mexico most of her life. When Brian transferred to Ohio, he was putting the needs of his daughter and his family before any career ambitions he may have had left regarding the Marine corps. Promotions sometimes involve checking all the right boxes and that includes going where the Marines think they need you the most. This may include being deployed overseas. Brian put the needs of his family first because it was the right thing to do. It’s hard to imagine that the Marines would have something for Brian in or near Columbus, Ohio but they did! The move would come and go and Frankie would start the trial for treating her eyes. This was in June in 2022 at Nationwide Children’s in Columbus as the family settled into their new life in Ohio. The trial involves a three year commitment. Estela shared that the first year involves just one eye and then the 2nd year involves both eyes. The third year is saved for check-ups in hopes that Frankie’s vision will remain whole. Estela shared a little about the whole experience, “Witnessing Frankie going under anesthesia once a month and getting her eye injected is no joke but we are in my opinion lucky, very, very lucky. She did qualify and here we are. Our bodies may be frozen in this weather we are not used to at times but our hearts remain warm. This is because we know that we would move to the end of the world if we had to for our little girl.” Everything that this family has done for their princess has been because of the love that they have for this little girl affectionately known as Frankie. They would go anywhere possible in order to help her. Since moving to Ohio, they’ve learned that gene replacement therapy may soon become available in the United Kingdom. They will certainly go there when and if gene replacement becomes a reality. Frankie was diagnosed quickly and that helped her to get started soon after on Brineura treatments. This has helped to slow the advancement of Batten disease in her and she would certainly be a candidate for gene therapy. Estela is hopeful, choosing hope over fear. She believes that a miracle for Frankie can happen. She was reminded of a saying that comes from a Mexican song and she asked me to share it. This is what it says, “but my faith is so big that even though I don’t have a yard, I’ve already bought myself a lawnmower”. This musically lyric, Estela says she repeats to herself over and over again. For now, life goes on in Ohio and the family takes each day one at a time. A Day at a Time  Beautiful Family for Sure! ~ Hermosa familia seguro! Estela shared that Brian has another two years of commitment to the Marine corps and will have served 24 years by the time he retires. It was his goal to have already retired and to have moved on to another career but that was perhaps delayed by what happened with his daughter. Will the fact that Frankie battles Batten interfere further with his future plans? Only time will tell. We’ve never met but this veteran sees in Brian a squared away individual. I know that he will be successful in whatever he sets out to accomplish. There are some things that are uncertain for this family. Life as they had planned things was interrupted by Batten disease and this can cause Estela to become anxious over things that are out of her control. Brian’s steady hand and leadership in this family is a big help to her and Estela says as much right here, “Like I said before, the future, who knows what it will bring. All I know is that when I want to cry because I have no answers, when my anxiety kicks in and I feel that I can’t breathe or go one more step, he holds my hand. He looks me in the eye and tells me, everything will be okay when those moments kick in.” To some that they know in Florida, it seems crazy that the family would leave Florida for a place like Ohio. Estela shared their question and her response to them, “How could you leave the sunshine state? Why? The answer is, for love. Has it been easy? No. Nobody I think will ever be ready for something like this. Are we strong? We have to answer no, there is just no other choice, no other way.” I’ve heard a saying here in America on several occasions that fits this family’s situation and it goes something like this, “You never know how strong you can be until you have no other choice”. That describes the resilience that is found in the people that make up almost every Batten family. There are other types of rare disease families that I’m thinking about as well. Estela also shared, “This new life has taught us to live one day at a time, appreciating every moment. I would say good or bad. We became, of course, more aware of the world around us and I would say more human.” Hardships of our own often make us more empathetic and more aware of what other people may be going through. Maybe the person that we see having a really bad day is going through a hardship that we know nothing about. I can’t help but to share more from Estela as we come close to closing, “We have our bad moments like everybody else but a dear friend told me one day, you cannot have fear and faith at the same time, so we choose hope, we choose love. That, I think, is at the end of the day, the answer too. I do believe that my daughter gets to live in this lifetime. I do believe a cure is near. I do believe she is already a miracle, my miracle, and that is how we choose to live, convinced that the best is yet to come.” Frankie is another beautiful little girl, is she not? Francesca Louise is a beautiful name as well. I see the joy in her smile even from a great distance away and I know that her smile will continue to shine for a long time to come. I want a cure for her and all of the kids that battle CLN2. People do care and I feel that progress is being made. Prayers for this family, as well as all the others, are in order. So often I repeat myself in saying that these kids are the most special and the most amazing. I may be a little biased because I’ve spent so much of my time pouring out my own feelings concerning those who battle. I do, however, think that my observations are true. There truly is something special about a child that faces such a plight. They battle while enduring a life that should be free of care and concern. These children do so while maintaining their childlike resilience. This is on full display to be seen by people who know and love them. Concerning her daughter, Estela recently stated to me, “I’m in love with her Greg, since day one.” I can only imagine how Frankie’s dad feels about her as well. Frankie’s big brothers, affectionately called Lukie and Momo, are a part of this battle as well. It’s not easy to watch your child or sibling having to endure endless needles and other medical treatments on a regular basis. They too have had to adjust and have done a great job of doing so. Estela shares just a little more, “I think about my amazing resilient child that goes through hell every month and still gives me the most beautiful smile, so I get up, wipe my tears and keep fighting for her.” That in itself helps to tell this story. Is my writing about the Rosko family going to spread a lot of awareness concerning Batten disease and the kids that battle? I don’t know if I can answer that question. My purpose here is really just to honor this family while helping them tell their story. I’m happy to have been given the privilege. Another precious family, this for sure. I just wanted to also say to Brian, thank you for your service to our country. It really matters to this writer. Thanks to everyone for taking the time to read this. Sincerely, ~Greg Lopez~ Blogger and Advocate Por amor - La historia de Frankie “Finalmente volvimos a casa , recuerdo que estaba en el trabajo y recibí una llamada telefónica del médico que decía que nuestra hija podría tener la enfermedad de Batten.…. ¿Qué es eso? ¿Cómo? ¿por qué? Lo busqué muy rápido en Internet y me caí al piso “. ~Estela Rosko~ Mamá y defensora de Frankie Lo que encuentro más sorprendente cuando escribo sobre los niños que luchan son las historias de amor que crean sus vidas. Creo que estas historias pueden generar un poco de conciencia sobre Batten y otras enfermedades raras, pero ese nunca fue mi objetivo. Una cosa llevó a la otra y empecé a escribir. Tenía muchas ganas de honrar a estos niños y sus familias y también aprendí algunas cosas en el camino. Una de las cosas que he aprendido es que hay un tipo de amor que no se parece a ningún otro. Ha pasado un tiempo desde que me dijeron unas palabras muy especiales y esas palabras crearon un momento que nunca olvidaré. Ha pasado algún tiempo desde que conversé con una amiga mía de FB llamada Shannon, pero sé que no le importará que comparta algo contigo. Esas son las palabras que ella había colocado en mi ventana de chat. Shannon era la madre de un hijo que tenía una enfermedad terminal que lo dejaba postrado en cama, a menudo en el hospital. La mayoría de los días, Shannon se quedaba al lado de su hijo hasta el día de su fallecimiento. Estas situaciones pueden desarrollarse sin el conocimiento del mundo exterior, de hecho, la mayoría de las veces lo hacen. Familias especiales como esta pueden vivir aisladas. Esto es lo que Shannon me dijo un día en particular: "Todo lo que podemos hacer es mostrarles a estos niños nuestro amor eterno". Esa es una frase que nunca ha dejado mi conciencia y es una a la que me refiero a menudo en mis escritos. Esas son palabras de Shannon, no mías y me han ayudado a explicar mejor lo que sienten estas familias. Cuando el amor se mezcla con el dolor, se convierte en un tipo profundo de amor. Uno que es inmortal. Se crea un vínculo. Es un vínculo que es tan fuerte que nunca se puede romper. El amor que tienes por un hijo nunca muere y solo se intensifica en el momento de la pérdida. Puede convertirse en un amor que duele incluso antes de que se produzca la pérdida. El tiempo pasará pero esa conexión siempre permanece, pase lo que pase. Siempre me sorprende lo que hacen los padres de un niño raro para ayudar a su(s) joven(es) guerrero(s) a luchar. No hay distancia que no viajen para encontrar ayuda. No hay necesidad que sea tan grande que no hagan todo lo que esté a su alcance para satisfacerla. Nada es más importante. Ni una carrera, ni una casa, ni ninguna ambición se interpondrá en el camino cuando sea posible encontrar esa ayuda. A menudo he compartido con mis lectores el hecho de que soy padre de un hijo que tiene necesidades especiales. También compartí recientemente que mi hijo Benjamin acaba de recibir un diagnóstico de su trastorno en los últimos meses. Ahora sabemos que tiene el síndrome PACS2 y la respuesta se encuentra a través de pruebas genéticas de exoma completo. Benjamin tenía 32 años cuando recibió su diagnóstico. ¿Qué fue lo que me llevó a encontrar un diagnóstico para Benjamín a una edad tan avanzada? De hecho, una proveedora de un programa diurno me sugirió que me diera una lista de inquietudes que tenía con respecto a la salud de mi hijo. La hinchazón en sus piernas la tenía preocupada por la condición de su corazón y también estaba preocupada por la movilidad disminuida. Lo que realmente me llamó la atención fue la preocupación por un supuesto deterioro cognitivo. En su opinión, mi hijo no estaba haciendo todo lo que hacía antes y estaba perdiendo interés en las cosas que le gustaban hacer en el pasado. Tener conocimiento de los niños que declinan cognitivamente y lo que eso puede significar me causó una gran preocupación. Perdóneme por tratar de hacer una comparación injusta, pero solo quería compartir lo que sentía en el momento en que miré su lista. Eso fue que podríamos estar en el proceso de perder a nuestro hijo. Recuerdo este sentimiento de hundimiento dentro de mí. Estaba pensando que su declive significaba que pronto estaríamos sin él. Compartí esos sentimientos con mi esposa y estuvo de acuerdo en que perder a Benjamin siempre era una posibilidad. ¿Por qué es injusto compararnos con una familia de enfermedades raras en esta situación? Es porque a la mayoría de ellos les encantaría saber que tenían 32 años o más con su hijo frente a ellos. Para mí, sin embargo, en ese momento, fue una sensación horrible. Todavía no sabemos qué le depara el futuro a Benjamin. Esto se debe a que es uno de los casos más antiguos conocidos de PACS2 en el mundo. Estamos brindando más respuestas sobre la longevidad de estas personas que las que recibimos de otros. Aun así, hemos tenido la suerte de tenerlo todos estos años. La vida de Benjamin es también una historia de amor. Tantas veces he dicho que, si bien se han sacrificado algunas cosas para mantener a mi hijo en nuestro hogar, no son nada en comparación con lo que experimentará una familia con enfermedades raras. Cuando reciben la noticia de que su hijo tiene una enfermedad como Batten y aprenden lo que esto significa, sienten una devastación y una tristeza extremas. A diferencia de un sentimiento temporal como el que yo había experimentado, los corazones de estos padres están rotos de una manera duradera. Por eso las familias que luchan tienen nuestro cariño y respeto de corazón. Un Comienzo Romántico La mayoría de las historias que he escrito comienzan con este tema y, a veces, está escrito con palabras como esta, "dos personas se conocen y se enamoran". El amor comienza cuando notamos a alguien y se enciende un interés dentro de nosotros. Luego decidimos que la persona opuesta a nosotros es alguien sin la cual no podemos vivir. En ese momento no tenemos idea de lo que la vida nos traerá. Sin embargo, una cosa que sí sabemos es que se trata de alguien con quien queremos pasar nuestra vida, sin importar lo que la vida pueda traer. Siempre habrá desafíos en el camino, ya que esto es parte de vivir en este mundo. En ese momento, sin embargo, todo lo que pensamos es que amamos a la persona con la que estamos. La gente normalmente hace planes para su futuro. A veces, simplemente avanzan a medida que el futuro revela lo que traerá la vida. Las cosas pueden cambiar drásticamente a través de una cadena de eventos o circunstancias no vistas y el curso de nuestras vidas puede verse alterado. Este suele ser el caso y eso nos lleva a la siguiente historia. Este comienza con la historia de una joven llamada Estela Gutiérrez Olmos. Estela nació en un pequeño pueblo de pescadores en el estado de Veracruz en México. Cuando tenía 17 años, su familia se mudó de regreso a la ciudad natal de su madre, Guanajuato. Allí, estaba rodeada de una gran familia extendida, pero ella misma era hija única. La vida de Estela fue despreocupada y feliz en general a medida que crecía y su vida seguía tomando forma. Un día, ella comenzaría a asistir a la universidad en la Universidad Santa Fe. Su universidad estaba ubicada a solo una hora de donde había vivido y esto le permitía ver a su familia los fines de semana. Estela tendría éxito en obtener su título de cuatro años en administración de empresas turísticas y esta sería una educación perfecta para lo que quería hacer como carrera. Estela no tardó en encontrar trabajo en un restaurante cerca de donde vivía y esto le permitiría empezar a ahorrar. No pasaría mucho tiempo antes de que Estela obtuviera un puesto en un hotel en Cancún, México. Sus ahorros del trabajo en el restaurante la ayudarían a viajar a su nuevo puesto y este debió de haber sido un momento emocionante para ella. Habría mucho que sucedería en Cancún en un futuro no muy lejano y Estela no podía esperar para comenzar. La vida continuaría y ella prosperaría en su trabajo y en su vida durante los próximos años. Fue en el año 2005 que Estela conocería al que algún día sería su esposo. Sin embargo, no tenía forma de saberlo en ese momento. Brian Rosko estaba sirviendo en el Cuerpo de Marines de los Estados Unidos en el momento en que él y Estela se conocerían. Trabajaba como guardia de seguridad en La Habana, Cuba, pero se encontraba allí en Cancún en el momento de su reunión. Se produciría un interés mutuo, pero cada uno de ellos estaba ocupado en sus carreras individuales, que se encontraban en dos lugares diferentes. Y aún así, se formó una amistad y ambos se mantuvieron en contacto a través de llamadas telefónicas y correos electrónicos. Para Brian, fue un amor a primera vista por Estela abordando la relación con cautela. Para Brian, fueron más que solo palabras, ya que volvería a visitar a Estela solo un par de meses después. Él la llevaría a una cita a Margaritaville en donde hablarían. Con el tiempo, el amor de Brian por Estela quedaría demostrado a través de sus acciones. Brian se estaba preparando para trasladarse a Alemania y decidieron seguir en contacto. Definitivamente había un interés mutuo el uno en el otro y querían ver si sería duradero. Tanto Brian como Estela sabían que una relación a tan larga distancia podría no sobrevivir. Estela sobre todo porque no creía que este tipo de relación pudiera durar. Sin embargo, con el transcurso del tiempo ocurriría un evento que cambiaría todo. Fue el 15 de octubre de 2005 que el huracán Wilma azotó México. Cancún se vio muy afectado y eso pronto cambiaría las circunstancias que rodeaban la relación a distancia de Brian y Estela. Cancún fue destruido y Estela se vería obligada a vivir en un refugio antes de poder irse. Una de las chicas con las que vivía era de Inglaterra y ella había planeado regresar allí pronto. Esto le dio a Estela la idea de que le gustaría ir a Inglaterra con su amiga para probar el mercado laboral allí. Usemos las propias palabras de Estela para compartir cuál sería el resultado de esta decisión: “Decidí ir allí con ella para probar suerte. Tengo que decir que no tuve demasiada suerte con el trabajo pero encontré el amor…”. Y de hecho lo hizo. Brian ya estaba en Alemania cuando Estela se había ido con su amiga a Inglaterra y su cumpleaños pronto llegaría en noviembre. Brian le envió flores a Estela por su cumpleaños. De hecho, las envió dos veces para asegurarse de que ella los recibiría y así lo hizo. En palabras de la propia Estela, “el resto es historia”. Un mes después, Brian le había pedido a Estela que fuera a visitarlo a Alemania y ella haría el viaje para verlo. Estela me compartió lo que pasó cuando hizo ese viaje y así me lo dijo: “Encontré en este hombre otro tipo de amor. Un amor desinteresado, maduro y hermoso. Y tengo que decir que nos enamoramos el uno del otro. Él nunca se rindió y decidí darle otra oportunidad al amor”. Brian fue enviado a África después de 6 meses y Estela regresó a México. Su relación volvería a ser puesta a prueba una vez más ya que tuvieron que estar separados el uno del otro durante todo un año. Las obligaciones de los militares pueden ser difíciles en las relaciones y ambos lo sabían. Ambos sintieron que si los sentimientos permanecían, algún día se casarían. Su relación estaba destinada a ser duradera. Una relación que pasaría la prueba. Unos meses después, Estela recibió flores de Brian desde África e incluyeron una propuesta de matrimonio en español. Rodeados de familia el 11 de agosto de 2007, la pareja se casaría en Guanajuato, México. Con sus votos intercambiados bajo la mirada de su familia y amigos más cercanos . Estela se mudaría a los Estados Unidos con Brian. Comenzaría su vida en común y Brian continuaría sirviendo en la Infantería de Marina. Juntos, viajarían a lugares de destino de todo el mundo durante los próximos cinco años mientras disfrutaban juntos de las horas libres de Brian. ¿Cuán diferente fue esto de lo que Estela había imaginado originalmente para su futuro? Debe haber sido muy divertido ver tantos lugares diferentes juntos. Esto mientras su vida juntos continuaba y su relación crecía. También discutieron el futuro. Construyendo una familia Sus planes para el futuro, por supuesto, incluían construir una familia juntos. Esto es algo que Estela deseaba, sobre todo porque había sido hija única. El deseo de Brian y Estela de formar una familia comenzaría a hacerse realidad después de esos primeros cinco años de matrimonio. Sería en otoño de 2012 que Estela se enteraría que estaba embarazada y tanto ella como Brian estaban muy felices de recibir la noticia. Su primer embarazo iría bien en general y llegaría el día en que Estela daría a luz a un niño. Lo llamarían Luciano. Su primer hijo nació en Okinawa, Japón, el 26 de julio de 2013. Tanto la mamá como el papá estaban muy felices y su vida juntos como familia realmente estaba tomando forma. Estela amaba ser mamá. Eso era algo que siempre había querido y tener una gran familia era parte de lo que había deseado. El tamaño de su familia no tardaría mucho en aumentar. Estela supo que estaba embarazada por segunda vez cuando Luciano tenía seis meses. Una vez más, su próximo embarazo iría bien. Ella también llevaría a este próximo bebé sin complicaciones. Como cualquier pareja embarazada, Brian y Estela estarían ansiosos por tener otro hijo en su hogar. Esto, incluso mientras disfrutaban de su tiempo con el bebé Luciano. Llegaría el día y esta vez, su segundo hijo nacería en Albany, Georgia en los Estados Unidos. La fecha sería el 9 de enero de 2015 y Estela le daría otro hijo a Brian. Este bebito era perfecto, con todos los dedos de manos y pies, y lo llamarían Gerónimo. La atención de Brian y Estela ahora se estaba concentrando en dos hijos y la vida juntos era buena. Su comienzo romántico se había convertido en una vida familiar de pleno derecho. Estela estaba ocupada en casa mientras Brian continuaba con su carrera como Marine. Disfrutaban de lo que tenían ahora y esperarían un par de años antes de aumentar el tamaño de su familia. A medida que pasaron esos dos años, comenzaron a hablar de tener otro hijo. Ellos no lo sabían en ese momento pero Estela ya estaba embarazada y esperaba el bebé número tres. Esta noticia no los defraudó ya que era algo que habían deseado para el futuro de su familia. Luciano y el pequeño Geronimo estaban creciendo y prosperando, cada uno a su manera a medida que pasaban los días. Cada uno de los embarazos de Estela con sus dos hijos salió bien, pero el siguiente, sin embargo, fue muy estresante. Esto se debió a que le dijeron que su próximo hijo podría nacer con síndrome de Down. ¿Qué haces en una situación así? Estela compartió que hubo días muy oscuros para ella. Tuvo días de confusión y tenía tantas preguntas que necesitaban respuesta. También hubo días más brillantes que estaban llenos de alegría. Iba a tener otro bebé y era muy posible que su nuevo pequeño fuera feliz y saludable. Esa era la esperanza a la que se aferraba. El otro tema era que Estela tenía una condición llamada placenta previa. Para acortar la historia, la placenta de su bebé no se formó colocándola en la posición más deseable. Esto puede provocar desangrado en la futura mamá y eso también es algo con lo que tuvo que lidiar. Todo esto daría lugar a algunos días deprimentes, pero Estela se las arregló para superarlo. Finalmente llegaría el día, siendo ese día el 21 de septiembre de 2017. El primer hijo de Estela, Luciano, había sido un parto difícil. Esto se debió a la pequeña estructura de Estela. Sus huesos pélvicos eran demasiado estrechos y estuvo de parto durante mucho tiempo. Como resultado, su próximo bebé varón nacería por cesárea, al igual que el bebé número tres. Las preocupaciones sobre la placenta previa solo aumentarían las preocupaciones del médico y la necesidad de otra cesárea. También necesitaría una transfusión de sangre después del parto. Todas las preocupaciones que Estela tuvo que superar fueron reemplazadas por la alegría que experimentaría después de dar a luz a su próximo hijo y a Brian. Esta vez, Estela dio a luz a una niña. Compartió cuáles fueron sus palabras cuando dio a luz a su nueva hija. Estela dijo: “Recuerdo lo primero que le pregunté a mi esposo después de escucharla llorar. Eso fue, ¿ella está sana? Dime por favor que está sana”. Estela compartió que Brian luego vino con una niña hermosa y perfectamente saludable. Una que los tendría a los dos envueltos alrededor de su pequeño dedo a partir de ese día. Sí, ella era hermosa y perfecta en todos los sentidos. Nació en el hospital Naval de San Diego, California y la llamarían Francesca Louise. Esto fue para honrar la memoria de la madre de Brian y era un nombre hermoso. La nueva princesa de la familia sería conocida cariñosamente como Frankie. Las cosas irían perfectamente con la salud de Frankie en sus primeros años. Estela compartió que había luchado contra la depresión posparto con sus dos hijos, pero eso no fue un problema para ella con Frankie. Esta niña especial había hecho desaparecer todo ese tipo de sentimientos y los días de Estela estaban llenos solo de amor y felicidad. Sintió que la vida de Frankie estaba destinada a ser y quién podría argumentar que este es el caso. Frankie continuaría creciendo y desarrollándose, alcanzando todos sus hitos y su futuro parecía tan brillante. Como familia, habían crecido juntos. La vida era ajetreada pero, en general, era maravillosa. Las cosas fueron tal como cabría esperar de una familia joven. Luego llegaron los primeros meses del año 2020 cuando el Covid-19 comenzó a impactar en la vida de todos. Brian, Estela y los niños tuvieron que mudarse de San Diego al estado de Florida. Tendrían que vender su casa y mudarse en lo que fueron los días muy estresantes de una pandemia mundial. Al principio, se impusieron restricciones al juego de los niños en los parques de Florida, pero luego se levantaron algunas de esas restricciones. Los niños comenzarían a jugar e interactuar con otras personas nuevamente y entonces notarían algo diferente en Frankie. Fue en ese momento que Estela notó que Frankie no estaba al mismo nivel que sus compañeros. No estaba rindiendo al nivel de un niño de 3 años. Frankie no podía escalar sola, columpiarse o deslizarse por el tobogán. Lo que también se notó es que su habla no estaba al mismo nivel que los otros niños. No estaba allí como debería estar. Comienza una pesadilla Estela hizo lo que casi cualquier mamá haría una vez que se dio cuenta de todo esto y fue llevar a su hija al médico. El médico le recomendó terapia del habla. Estela no se preocupó demasiado por el retraso en el habla y tal vez Frankie fue un poco más lenta en el desarrollo de nuevas habilidades. En cuanto a su nivel de comunicación, Estela pensó que el hecho de que en su casa se hablaran dos idiomas tenía algo que ver con el retraso. Eran cosas que se podían superar con el tiempo, pero luego todo se volvió más complicado. Se produciría un evento que sacudiría a Estela y Brian también. Estela comparte con sus propias palabras: “La pesadilla comenzó una mañana de febrero cuando sentí que la cama temblaba, era mi hija con su primera convulsión”. Cada vez que un niño tiene una convulsión, es una señal de que algo no está bien. Hay algo anormal en la salud del niño o es un síntoma de una condición aún desconocida. De cualquier manera, una convulsión es un acontecimiento muy aterrador. Era una mañana de febrero de 2021 y Brian se había ido a trabajar. Fue una suerte que Frankie durmiera aún con sus padres esa noche, de lo contrario, es posible que no lo hubieran notado. Estela podía sentir que la cama temblaba alrededor de las 6 a.m. No sabía exactamente qué estaba pasando, pero sabía que era grave. Estela llamó a Brian y le pidió que regresara a casa y que llevarían a Frankie al hospital. En ese momento, el personal de la sala de emergencias no podía decir si Frankie había experimentado una convulsión o no, incluso si se sospechaba. Los médicos sugierieeon a Brian y Estela consultar con el pediatra de Frankie y luego los dieron de alta para que se fueran a casa. Al pediatra también le resultó difícil saber si había ocurrido una convulsión en Frankie, pero eso no sería el final. Frankie tendría una segunda convulsión, esta vez temblando violentamente y vomitando también. De repente, la vida era muy diferente. Había sucedido algo que los padres nunca esperarían que sucediera. De repente se sintió que las cosas no eran las mismas. La vida sería diferente. La familia pasaría la noche en la sala de emergencias esta vez mientras el personal realizaba las pruebas. Todo parecía estar bien en el momento en que le hicieron la prueba a Frankie, pero sintieron que podría tener epilepsia. Frankie pronto sería remitida a un neurólogo para recibir más atención y pruebas. Una tercera convulsión ocurriría en el transcurso del tiempo, pero fue la cuarta convulsión que Estela compartió la había “marcado” de por vida. Esto realmente sucedió cuando conducía a casa desde la cita de neurología en Ft. Lauderdale. Estela estaba en la carretera y todo parecía estar bien en ese momento. Luego, unos minutos más tarde, volvió a mirar a su hija en el espejo y pudo verlo venir. Estela se detuvo en la salida más cercana, pero Frankie ya se había puesto morada cuando pudo alcanzar a su hija. Estela pensó que había perdido a Frankie. De hecho, compartió: “Hasta el día de hoy, este ha sido el sentimiento más horrible que he experimentado”. Estela llamó al 911 y mientras la entrenaban, los paramédicos estarían en camino. Minutos después, llegarían y transportarían a la princesa a la sala de emergencias. El médico ese día volvió a sentir que Frankie sufría de epilepsia. Esto tenía mucho sentido en ese momento, especialmente porque la epilepsia existía en otras personas dentro de la familia de Estela. Fue después de esto que el neurólogo de Frankie quiso que se sometiera a un panel completo de pruebas que él llamó "la prueba del millón de dólares". Francesca sería ingresada en el hospital durante una semana para someterse a todas estas pruebas. Durante ese tiempo, cada prueba que se estaba realizando daría como resultado un resultado negativo. Sin embargo, el EEG que se realizó parecía algo anormal y debido a esto, el neurólogo ordenaría pruebas genéticas para Frankie. Como se mencionó anteriormente, Estela había notado un retraso en el habla de Frankie junto con cierto retraso en el desarrollo de sus habilidades. Esto después de que estuvo expuesta a niños de su misma edad cuando se levantaron ciertas restricciones. La diferencia era notable, pero se pensó que probablemente tenía que ver con el entorno de Frankie. También estaba teniendo algunos problemas de comportamiento y tenía miedo de estar con otros niños. Los padres de Frankie nunca hubieran pensado que todo esto en conjunto apuntaba a algo más siniestro que la simple epilepsia. No tenían forma de saber que estos síntomas individuales eran piezas de un rompecabezas que pronto se resolvería. La respuesta se revelaría cuando se ordenaran pruebas genéticas en el hospital Broward Health en Coral Springs, Florida. Se decidió que usar el método del hisopo y recolectar saliva era la forma más rápida de realizar las pruebas genéticas. Esto se hizo a través de una conocida empresa llamada Invitae Medical Genetics. A Frankie y a sus padres se les tomarían muestras y las muestras se enviarían por correo. Recibir los resultados de las pruebas genéticas puede demorar algunas semanas, pero a veces puede demorarse mucho más si se demora. Como sería el caso con la familia Rosko, el laboratorio estaba al tanto de todo. Invitae generalmente brinda un excelente servicio. Los resultados volverían solo unas semanas después, pero aún habría tiempo para preguntarse. Sé de tantas historias en el pasado donde las familias tuvieron que esperar un período prolongado de tiempo. Esto se debió a veces a errores que se habían cometido o a la falta de urgencia dentro del sistema con el que trabajaba la familia. En este caso, el neurólogo de Frankie se encargaría de que todo se agilizara y se quedaría al lado de la familia hasta encontrar una respuesta. Cuando llegaron los resultados de la prueba, mostraron que estaban presentes dos copias mutadas del gen tpp1. Tanto mamá como papá tenían una forma de este gen mutado. Este es el gen que se ve afectado cuando una enfermedad rara llamada Batten está presente en un niño. El neurólogo llamaría y le diría a Estela que la enfermedad de Batten era una posibilidad real pero que había que hacer más pruebas. Al igual que con la mayoría de las mamás y los papás, Estela nunca había oído hablar de la enfermedad de Batten. Hizo lo que cualquiera haría en esa situación y es buscar la enfermedad en Internet. Una batalla no ninguna Estela compartió que la perspectiva de que Frankie tuviera algo como Batten la hizo caer de rodillas. ¿Cómo puede ser esto posible? En un instante, la situación de Frankie había cambiado y se había vuelto mucho peor. La epilepsia era algo con lo que podían vivir, pero la información que leyó Estela reveló la peor situación posible para su hija. Esta enfermedad era fatal y no tenía cura. Con la enfermedad de Batten, el cuerpo no puede producir una enzima que se necesita para eliminar los desechos de ciertas células. En cambio, estos desechos se acumulan en el cuerpo y hacen mucho daño. Frankie tendría que hacerse la prueba nuevamente para saber qué nivel de esta enzima tenía su cuerpo. Ella y sus padres se reunían con el genetista para repasar los resultados de la primera prueba. A Frankie le sacarían sangre para comprobar su nivel de la enzima tpp1. Los resultados de esta prueba tardarían otras tres semanas en llegar. Fue entonces cuando Estela recibiría una llamada del genetista que tenía los resultados del nivel de Frankie. Su nivel de enzimas era bajo. Al principio, Estela pensó que esto era algo bueno, pero una vez que se lo explicaron, quedó devastada. Frankie tenía un nivel de solo el 9% de la enzima tpp1. La pequeña de Estela tenía la variante CLN2 de la enfermedad de Batten. Ese día fue el 3 de junio de 2021 y para la mamá y el papá de Frankie fue el peor día de sus vidas. Ambos sabían que las cosas nunca volverían a ser iguales. Lo que había comenzado a convertirse en un torbellino de eventos solo continuaría creciendo en intensidad. Estela le preguntó al neurólogo cuál sería el siguiente paso, aun sabiendo que vendría la cirugía de cerebro . CLN2 es la única variante de la enfermedad de Batten hasta la fecha que tiene un tratamiento disponible. La terapia de reemplazo enzimático es posible una vez que se implanta quirúrgicamente un puerto en la cabeza del niño. Luego se infunde una solución llamada Brineura en el cerebro del niño a través del puerto cada dos semanas. El único problema es que esta cirugía y el tratamiento correspondiente no está disponible en todos los hospitales del país. No estaba disponible en un hospital cercano a la familia Rosko y esto dejó a Estela con sentimientos de ira y desesperación. El neurólogo de Frankie trató de mover montañas para que el tratamiento estuviera disponible en su área, pero no tuvo éxito. La familia de alguna manera tendría que llevar a Frankie a un lugar donde estuviera disponible. Descubrirían que su mejor opción era ir an Ohio, específicamente al Hospital Nacional de Niños en Columbus. La tía de Estela había investigado un poco y había encontrado a una médica llamada Emily De Los Reyes en Columbus. Era experta en saber cómo tratar CLN2 Batten, estando muy involucrada en el inicio de la terapia de reemplazo enzimático para estos niños. Ese era el lugar que la familia Rosko necesitaba para llevar a Frankie. Estela le preguntó al consejero Brineura de Fankie si podían ir a Ohio para recibir este tratamiento que cambiaría su vida y la respuesta resultó ser ¡sí! La velocidad a la que todo se movió en el caso de Frankie fue asombrosa y crítica. Cuanto más rápido un niño pueda comenzar con el reemplazo de enzimas, menor será la regresión total del niño al comienzo de su viaje. Por eso es tan importante un diagnóstico precoz. La familia Rosko haría el viaje a Ohio y lo hicieron a toda costa por amor. Frankie tendría citas toda la semana después de ser aceptada. Su cirugía fue el 11 de junio de 2021 y su primer tratamiento con Brineura fue el 21. ¿Te imaginas lo drásticamente que había cambiado la vida de esta familia en tan poco tiempo? Quería usar las palabras de Estela en una cita para mostrar lo que ella estaba sintiendo desde el día del diagnóstico en adelante. Esto ya que se vieron obligados a tomar medidas tan rápidamente. Esto es lo que me dijo Estela: “Ese día, algo en mí murió. Recuerdo que era como un castillo de arena que alguien había pisado. Estos fueron los días más tristes y oscuros de nuestras vidas. La mía y la de mi esposo y estoy segura que la de mi familia también. Pero nos levantamos, tomamos a nuestra preciosa niña y fuimos a Ohio para que nos hicieran la cirugía”. Sucedió muy rápido, pero esto es generalmente lo que sucede con cada padre que recibe este tipo de noticias. Todo comienza con conmoción y gran consternación cuando descubren que su hijo tiene una enfermedad tan horrible. Los sentimientos iniciales luego se hacen a un lado aunque la tristeza continúa. Hay entonces un determinado tipo de fuerza que se hace cargo a medida que se actúa. Estela continuó con esto, “Yo lo veía como una carga muy pesada tener que viajar a Ohio y dejar a mis otros 2 hijos , pero es cierto eso de que todo pasa por algo. Nos encontramos con los mejores médicos que podríamos pedir, las mejores enfermeras, la mejor atención y la mejor gente”. Cualquier distancia para Frankie Con Frankie a su lado, la familia viajaría hacia y desde Ohio durante unos cuantos meses para que su princesa se sometiera a los tratamientos. El costo de este tipo de cosas, financieras y de otro tipo, siempre es tremendo. Esto era especialmente cierto porque el viaje tenía que hacerse cada dos semanas. Durante todo el tiempo, Frankie no solo tuvo al personal del Nationwide Hospital en Ohio trabajando para ella, sino también a su equipo de médicos en Florida. Tanto su pediatra, El Dr. López, como la enfermera practicante de Frankie, Méndez, estaban trabajando para que los tratamientos estuvieran disponibles más cerca de su hogar en Florida. Tendrían éxito y el tratamiento Brineura pronto estaría disponible en el Jackson Memorial Hospital de Miami. Sus días de estar en Ohio para las infusiones habían terminado, o eso pensaban en ese momento. Sabiendo lo querida que era Frankie por parte del personal, los Roskos estaban tristes de dejar Nationwide Children's. Sin embargo, estaban muy felices y aliviados de saber que los largos viajes habían terminado. Los días de estar separados como familia también habían terminado y eso también fue un alivio. Habría más cosas que ocurrirían que afectarían a Frankie y su familia. Una preocupación que tienen todas las familias cuando luchan contra CLN2 Batten es que su pequeño guerrero algún día perderá la vista. Recientemente comenzó un ensayo clínico que trabaja para ayudar a evitar la pérdida de la vista en un niño CLN2 Batten. Esto se suma a las infusiones para la terapia de reemplazo enzimático. Estela se había enterado de la prueba durante las primeras infusiones de Frankie, ya que un médico se lo había mencionado. Estela, por supuesto, quería este tratamiento para su hija, pero le dijeron que el ensayo clínico era solo por invitación. No solo esto, sino que Frankie también tendría que calificar. La familia llevaría a Frankie de regreso a Florida después de su último tratamiento y luego regresaría en un par de semanas para el siguiente. Esta vez, el oftalmólogo examinaría a Frankie para ver si calificaba para la prueba que involucraba el tratamiento de sus ojos. La respuesta sería sí y por eso, Brian y Estela estaban agradecidos. El único problema ahora era que tendrían que empezar a viajar de un lado a otro, desde Florida hasta Ohio. Cuando se les preguntó si estaban dispuestos a viajar, los Rosko, por supuesto, respondieron que sí. Ya sabían lo difíciles que eran los viajes pero estaban dispuestos. Brian pensó que este era el momento de hablar con la gente dentro de la Infantería de Marina para ver si había algo que pudiera hacer cerca de Ohio. En otras palabras, quería ver si podía obtener una transferencia por razones humanitarias. Esto les permitiría mudarse an Ohio como familia mientras se liberan del estrés de viajar con tanta frecuencia. Para su gran satisfacción, Brian terminaría siendo transferido a Ohio. Se mudarían en el verano de 2022 después de que los niños completaran su año escolar. A menudo, las circunstancias de un solo hijo u otro miembro de la familia pueden afectar la vida de todos en el hogar. Esto es especialmente cierto cuando hablamos de las necesidades de un niño especial. A veces también desvían la atención de sus hermanos. El diagnóstico de Frankie trajo consigo algunos cambios drásticos y uno grande fue tener que dejar un lugar que amaba a toda la familia y en el que se sentían feliz viviendo. Sin embargo, Frankie es tan amada que esta familia habría hecho lo que fuera necesario para conseguirle lo que necesitara. Esto fue para que ella luchara contra Batten al máximo e incluía comenzar de nuevo en un lugar desconocido. También se mudaron a un clima que no era tan cómodo para alguien como Estela, habiendo vivido en un lugar cálido como México la mayor parte de su vida. Cuando Brian se transfirió an Ohio, estaba anteponiendo las necesidades de su hija y su familia a cualquier ambición profesional que le quedara con respecto a la Infantería de Marina. Los ascensos a veces implican marcar todas las casillas correctas y eso incluye ir a donde los marines creen que más lo necesitan. Esto puede incluir ser desplegado en el extranjero. Brian antepuso las necesidades de su familia porque era lo correcto. Es difícil imaginar que los marines tuvieran algo para Brian en o cerca de Columbus, Ohio, ¡pero lo tenían! El movimiento vendría y se irían y Frankie comenzaría el ensayo clínico para el tratamiento de sus ojos. Esto fue en junio de 2022 en Nationwide Children's en Columbus cuando la familia se instaló en su nueva vida en Ohio. El ensayo implica un compromiso de tres años. Estela compartió que el primer año involucra solo un ojo y luego el segundo año involucra ambos ojos. El tercer año se reserva para chequeos con la esperanza de que la visión de Frankie se mantenga completa. Estela compartió un poco sobre toda la experiencia: “Ver a Frankie bajo anestesia una vez al mes y que le inyecten el ojo no es una broma, pero en mi opinión somos afortunados, muy, muy afortunados. Ella calificó y aquí estamos. Nuestros cuerpos pueden congelarse en este clima al que no estamos acostumbrados a veces, pero nuestros corazones permanecen cálidos. Esto se debe a que sabemos que nos mudaríamos al fin del mundo si tuviéramos que hacerlo por nuestra pequeña”. Todo lo que esta familia ha hecho por su princesa ha sido por el amor que le tienen a esta pequeña conocida cariñosamente como Frankie. Irían a donde fuera posible para ayudarla. Desde que se mudaron an Ohio, se enteraron de que la terapia de reemplazo de genes pronto podría estar disponible en el Reino Unido. Ciertamente irían allí cuando y si el reemplazo de genes se convierte en una realidad. Frankie fue diagnosticada rápidamente y eso la ayudó a comenzar poco después con los tratamientos con Brineura. Esto ha ayudado a retrasar el avance de la enfermedad de Batten en ella y, sin duda, sería una candidata para la terapia génica. Estela está esperanzada, eligiendo la esperanza sobre el miedo. Ella cree que puede suceder un milagro para Frankie. Se acordó de un dicho que viene de una canción mexicana y me pidió que se los compartiera. Esto es lo que dice, “ y es tanta mi fe que aunque no tengo jardín, ya compre una podadora “ Este mantra musical , Estela dice que se repite a sí misma una y otra vez. Por ahora, la vida continúa en Ohio y la familia toma cada día uno a la vez. Un día a la vez Estela compartió que Brian tiene otros dos años de compromiso con la Infantería de Marina y habrá cumplido 24 años cuando se jubile. Su meta era estar ya retirado y haber pasado a otra carrera pero eso quizás se retrasó por lo que pasó con su hija. ¿El hecho de que Frankie luche contra Batten interferirá aún más con sus planes futuros? Sólo el tiempo dirá. Nunca nos hemos conocido, pero este veterano ve en Brian a un individuo sensato. Sé que tendrá éxito en todo lo que se proponga. Hay algunas cosas que son inciertas para esta familia. La vida como habían planeado se vio interrumpida por la enfermedad de Batten y esto puede hacer que Estela se angustie por cosas que están fuera de su control. La mano firme y el liderazgo de Brian en esta familia son de gran ayuda para ella y Estela dice lo mismo aquí: “Como dije antes, el futuro, quién sabe lo que traerá. Lo único que sé es que cuando quiero llorar porque no tengo respuestas, cuando me entra la ansiedad y siento que no puedo respirar ni dar un paso más, él toma mi mano. Me mira a los ojos y me dice que todo estará bien cuando lleguen esos momentos”. A algunos que conocen en Florida les parece una locura que la familia se vaya de Florida a un lugar como Ohio. Estela compartió su pregunta y su respuesta: “¿Cómo pudiste dejar el estado del sol? ¿Por qué? La respuesta es, por amor. ¿Ha sido fácil? No. Creo que nadie esta preoarafo para algo como esto. ¿Somos fuertes? Tenemos que responder que no, simplemente no hay otra opción, no hay otra manera”. He escuchado un dicho aquí en Estados Unidos en varias ocasiones que se ajusta a la situación de esta familia y dice algo así: "Nunca sabes lo fuerte que puedes ser hasta que no tienes otra opción". Eso describe la resiliencia que se encuentra en las personas que componen casi todas las familias Batten. Hay otros tipos de familias de enfermedades raras en las que también estoy pensando. Estela también compartió: “Esta nueva vida nos ha enseñado a vivir un día a la vez, apreciando cada momento. Yo diría bueno o malo. Por supuesto, nos volvimos más conscientes del mundo que nos rodea y, diría, más humanos”. Nuestras propias dificultades a menudo nos hacen más empáticos y más conscientes de lo que otras personas pueden estar pasando. Tal vez la persona que vemos que tiene un día realmente malo está pasando por una dificultad de la que no sabemos nada. No puedo evitar compartir más de Estela a medida que nos acercamos al cierre: “Tenemos nuestros malos momentos como todos los demás, pero una querida amiga me dijo un día, no puedes tener miedo y fe al mismo tiempo, así que elegimos esperanza, elegimos el amor. Eso, creo, es al final del día, la respuesta también. Creo firmemente que mi hija va a vivir en esta vida. Creo que una cura está cerca. Yo sí creo que ella ya es un milagro, mi milagro, y así elegimos vivir, convencidos de que lo mejor está por venir”. Frankie es otra niña hermosa, ¿no es así? Francesca Louise también es un nombre hermoso. Veo la alegría en su sonrisa incluso desde una gran distancia y sé que su sonrisa seguirá brillando durante mucho tiempo. Quiero una cura para ella y para todos los niños que luchan contra CLN2. A la gente le importa y siento que se está progresando. Las oraciones por esta familia, así como por todas las demás, están en orden. Muy a menudo me repito al decir que estos niños son los más especiales y los más asombrosos. Puede que sea un poco parcial porque he pasado gran parte de mi tiempo expresando mis propios sentimientos con respecto a los que luchan. Sin embargo, creo que mis observaciones son ciertas. Realmente hay algo especial en un niño que se enfrenta a tal situación. Luchan mientras soportan una vida que debería estar libre de cuidados y preocupaciones. Estos niños lo hacen mientras mantienen su resiliencia infantil. Esto está en exhibición completa para ser visto por personas que los conocen y los aman. Con respecto a su hija, Estela me dijo recientemente: “Estoy enamorada de mi hija Greg, estoy enamorada desde el primer día”. Solo puedo imaginar cómo se siente el padre de Frankie por ella también. Los hermanos mayores de Frankie, cariñosamente llamados Lukie y Momo, también son parte de esta batalla. No es fácil ver a su hijo o hermano tener que soportar un sinfín de agujas y otros tratamientos médicos de forma regular. Ellos también han tenido que adaptarse y han hecho un gran trabajo al hacerlo. Estela comparte un poco más: “Pienso en mi increíble niña resiliente que pasa por un infierno todos los meses y todavía me da la sonrisa más hermosa, así que me levanto, me limpio las lágrimas y sigo luchando por ella”. Eso en sí mismo ayuda a contar esta historia. ¿Mi escritura sobre la familia Rosko va a generar mucha conciencia sobre la enfermedad de Batten y los niños que luchan? No sé si puedo responder a esa pregunta. Mi propósito aquí es simplemente honrar a esta familia mientras los ayudo a contar su historia. Estoy feliz de haber tenido el privilegio. Otra familia preciosa, estoy seguro. Solo quería decirle también a Brian, gracias por su servicio a nuestro país. Realmente le importa a este escritor. Gracias a todos por tomarse el tiempo de leer esto. Atentamente, ~Greg López~ Bloguera y defensora  Beautiful. Is she not? “Is it them (Children with Batten) or is it us? Is it the feelings that they produce in us or is it that there is something truly special about them? I think that the answer has to be all of the above. It is them, but they also do something to us. Once you give a little piece of your heart to these kids and their families, they come close to taking all of it. Let it happen!” ~Greg Lopez~ Blogger and Advocate It has been a while since the time that I had last written a story about a child who battles. This has caused me to reflect upon the reasons why I first started to get involved in this way. I have often stated that while greater awareness is important, I really started writing these stories to honor the families who battle alongside their little warriors. I felt honored that people would entrust me with the details of their lives in order to put their stories in writing. The stories were simple in the beginning but they grew in complexity over time. They were also very moving emotionally for me to write. I can remember very clearly, causing myself to tear up because of the words that I chose to include as I was writing. Just thinking about a certain child and what their family was going through would bring me to tears. Sometimes, it would be in a most inconvenient place. Like at a stoplight or pulling into a gas station. Being at work in the shop was maybe the worst place of all. It is easy at times, as you do one story after another, for the details to become just a matter of fact. At a certain point, those types of feelings would not be present as much as I continued to write. That is perhaps a good reason why taking a break for a while was a good thing. I so missed writing about the kids that battle after a while. These children and their resilient ways do amaze me. The way that they adapt to life as they face the changes that take place.  In the presence of royalty. Their bodies go through changes as they battle a rare disease like Batten. Yes, they go through very frustrating circumstances but they do bounce back so often from the adversities that they face. These kids always find a reason to maintain the smile that one would expect in a child. This is in spite of going through things that would cause most adults to lose their joy. These kids are resilient. I had never heard of Batten disease but had been made aware through the life of one little girl. I followed her journey like so many others as she had a large following, both locally and through social media. So many were made aware through her journey. It would be through a series of events that I would learn about her and her family. These events actually started for me as I was following the legacy of a United States Navy SEAL named Adam Brown. A connection was made through social media to a little girl named Ali (sounds like alley). She was from the same small town as Adam was and she was battling CLN2 Batten disease. I had written these words about her for a previous story, “The image is etched in my memory and it will forever be there. I had followed my Batten princess in her journey and I knew from what I was seeing that she had taken a turn for the worst. The post on social media told the story. This created in me a sense of urgency which caused me to develop a plan. I had to meet her and it needed to be soon.…” We did develop a plan that was very “outside of the box” so to speak. We would make the trip of over 2,000 miles from our state of Oregon to the state of Arkansas. This was in large part to meet Ali and her family. Very sadly, Ali would gain her wings just a short time later. That trip was magical and the entire experience of following this one little girl’s journey changed my life. My eyes would be opened to kids who battle rare diseases. I am a father to a son who has special needs. I’ve stated that his life factors into the love that I have for these other children. What I’ve said in the past is this, “The love that I have for my own son with special needs has lent itself to a love that I have for the kids that battle.” This statement is absolutely true. Something has changed since my last story and that is that my son Benjamin has received a diagnosis for his disorder. This took place through Whole Exome genetic testing. Benjamin was born with a mutation of a recently discovered gene that has been designated as PACS2. Benjamin has PACS2 Syndrome. Developmental delay, facial dysmorphism, and a seizure disorder are things that had set him apart from other children. Now we know and we have a small group from around the world that we are a part of. As it turns out, our Benjamin is one of the oldest known cases. I have a strong appreciation for those in the rare disease community that encouraged me in seeking to have Benjamin tested genetically.  We have more knowledge now concerning our son’s condition and it has made a difference. I feel a connection between our family and all of yours. We have had our challenges along the way and have made sacrifices to keep Benjamin with us all of these years but having him in our lives has been a wonderful experience. Let’s be clear about something. Anything that we have gone through, pales in comparison with the things that a rare disease family will face in the course of their journey. They experience a depth of love for a child not felt by many and will know a level of heartache not known by most of us. There are struggles that a Batten family will go through as they journey with their young warriors. Some of these things are seen in people that are much older. I’m speaking of the degenerative aspects of the disease. My 90 year old father has been in decline and is experiencing some of this type of thing right now. He has, however, lived a good long life. Although these things are difficult to see take place, it’s understood that it’s normal that they do happen at his age. This is a normal part of what we know to be the cycle of life and what we expect can happen with the elderly. I’ve often said that this type of thing should not happen to children. Instead, they should be left to live a carefree life, experiencing childlike fun as they learn life’s lessons. A lysosomal storage disorder like Batten disease can bring about symptoms that should be left to people that are aged. Childhood is a time of life that is treasured by every family and it is tragic when something like a rare and fatal disease is revealed. In the course of time, love mixed with grief over someone who still remains with you will produce a love that is profound and undying. This creates a bond that is so strong that it can never be broken and memories that can never be taken away. These kids…. their lives are priceless and every effort towards new therapies and a cure should be made. Their fight should be our fight. I know that is the case when it comes to their families. This is also true for those in the research and medical field that are working for their care and a cure. Some good things have taken place in regards to help for kids that battle the CLN2 variant of Batten. There is more that is hoped for and more to be accomplished. Okay, it’s time to get to our story. Like I’ve stated already, my interest in the kids that battle all began with a little girl named Ali. It easily could have started with another little warrior. A warrior princess like Violet. This is a story about her and her family. Two People Meet  Peter and Michelle. Meant for each other! Like it is with almost every story that I’ve written, this one begins with two people that meet and fall in love. That was the case for Peter Jones and Michelle Curran even though it was not love at first sight for them. They were both 17 years old when the two of them would meet. This was at a club named The Grafton in Liverpool England. Their meeting took place in March of 2001, just before Easter. Infamous may be too strong of a word but The Grafton definitely had a reputation of being a rough kind of place. Peter and Michelle were just out to socialize with others and to have a good time. They had no idea that they would one day start a life together, nor what being together would entail. They had spoken a few times at The Grafton and Peter found Michelle to be fit, or attractive. They had kissed one night but things wouldn’t go any further for months. For Michelle’s part, while she thought that Peter was a handsome fellow, she also thought that he was a little bit full of himself. That is opposite of the type of person that Michelle was looking for in life. Her opinion of him would soon change however, as his true character would soon be revealed to her. One day, he would be the father of her children and her best friend in the world. As it would happen, Peter’s best friend lived by Michelle and he would drop her off at her home after the club closed. One night, Peter asked for Michelle’s number as they were leaving and he would soon call. He just knew after that first conversation that she was the one for him. Michelle also felt that one day, they would be man and wife. That would indeed take place in due time. Peter acknowledges that, in certain respects, they are opposites in their personalities but they would just click as a couple. Peter and Michelle’s love for one another would grow by the day and each of them would become the love of each other’s life. As their relationship progressed, Peter and Michelle would move in together. This was just before they each turned 21 years of age. Life together was good but it wasn’t complete without children. They both had wanted a family and so it would happen that Michelle would be expecting their first child soon after their move. Everything would go well with her first pregnancy and the time would arrive for them to welcome their first child. They would name her Millie. That’s right, Michelle would give birth to a baby girl on the day of October 16th, 2006. Millie was a big baby due to the fact that she was born two weeks beyond her due date, arriving at 9 pounds, and 11 ounces. She was flawless in every way. Although Michelle’s first pregnancy took place without complication, the delivery was a bit more challenging because of Millie’s size at birth and Michelle’s slim frame. Millie’s mum and dad were so happy to see her and she was born a perfect and beautiful baby. Together, they would settle in as a family of three. Life was good. Peter and Michelle enjoyed life together with Millie, spending time with friends and extended family. Holidays together were more special for them now that they had little Millie in their life.  Millie and her sister named Violet. Everything was just better and they hoped to increase the size of their family in the near future. Life was busy with work and play but Peter and Michelle had high hopes for what the future held for them as a family. All of the wonderful things that normally take place were anticipated. Michelle had hoped to have another child before turning 30 and that would happen one day. It would take a couple of years but both her and Peter would be given the news that Michelle was pregnant again. They were both elated to know that they would soon be a family of four. What would they experience over time as a family? Only time would tell but this news was met with a lot of excitement. Again, Michelle would do well with her 2nd pregnancy and one would expect that their next baby would be healthy and whole. Life continued in anticipation and the time would arrive for the next member of their family to be welcomed into this world. The big event would take place on July the 25th of 2015 at Liverpool Women’s Hospital. Guess what? Michelle would give birth to another baby girl and her parents would name her Violet. Just like with her sister Millie, Violet was born with all of her fingers and toes. She also was a flawless and a beautiful little baby girl. Both of Violet’s parents looked at her and thought that she was perfect in every way. She had a perfect complexion and dark hair. To her mum, she looked like a real size little doll. Violet’s dad noticed that she looked just like Millie, only smaller. As Peter looked at his newborn daughter, he thought that his family was complete at that moment. In fact, four people would be the perfect size family to many. The possibilities for the good things that could take place in their future were many. More time spent together, experiencing all of the milestones that take place in a family home. From the first day of schooling to the graduation from college in some cases. Parents look on with pride as their children grow and achieve their goals. Marriage brings grandchildren and the feelings that surround being together intensify with each addition to the family. These are normal life events that one could expect. They will normally come to pass unless they are interrupted by problems that may yet not be seen. I may be stating the obvious here. Bumps and bruises and even broken bones happen when you raise a child but those are the things that a person might expect to come their way. Life in itself can be a journey but most parents will look forward to the future with joy and optimism when their children are young. Why would it be any different when you had just brought a little girl like Violet into the world? She was just beautiful and also an amazing baby according to her mum. Michelle stated that Violet slept well and she was easy to feed also. Violet’s little temperament was amazing. She was a happy little girl and very loving towards others. She was a little princess from the beginning and she was loved immediately by anyone who came in contact with her. Life Less Perfect  A real life Doll. Early in her development, Violet would thrive in the ways that one would expect a little girl to. She was learning life’s lesson while having fun and looking at the world in wonder. The only issue with her total health was that she had a speech delay. This is a common issue in preschoolers with it being present in as many as 10% of children. Michelle explained that Violet could speak in one word answers using terms like mamma and daddy. She then went on to use simple phrases like “there you go” and “oh mamma, where is green?” She wasn’t where she was expected to be with her speech but Violet was making progress. Something so simple wouldn’t necessarily cause a lot of concern and Michelle thought that they were turning a corner on Violet’s speech delay. But then, an event would take place that would shake them as a family. This would happen on February the 16th of 2019. That is a day that Peter and Michelle will never forget. It was not known at that time but this day would change everyone’s life forever. Life would never be the same. That day was a Tuesday and Michelle had just arrived home at her usual time of 5:30 in the evening. Walking through the door, Michelle walked into the kitchen. Once there, her neighbor came running into the house screaming that little Violet wasn’t breathing. She immediately ran to find her daughter in Peter’s arms. In Michelle’s own words, “I remember running next door where Peter sat with Violet in his arms. She looked so peaceful, I thought we'd already lost her.” Can you imagine the thought of such a thing racing through Michelle’s mind at that time? Not knowing it right then, this was the beginning of much more that would follow. Everything was not right with this little princess that everyone adored. As it turned out, Violet had vomited and turned blue while her dad was running her a bath after coming home from nursery. Thinking that she was choking, Peter had run out into the street looking for help from neighbors. So many people tried to help that night and it was something that Michelle would never forget. What caused this to happen? Eventually, an ambulance would arrive and Violet would be taken to Alder Hey Children’s Hospital in West Derby, Liverpool. What was revealed is that Violet had a seizure and a pattern started to develop over the next few weeks. Violet would fall asleep and then wake up within the first hour while vomiting. Her eyes would go to the left or right and then she would seem to go back to her normal self. Can you imagine how terrifying this would be as a parent….the heartache over seeing this little girl going through such a thing? The trips to Alder Hey would become a regular occurrence for this family for the near future. All of a sudden, there was an abrupt end to what one would consider to be a normal type of family existence. Peter and Michelle were always on high alert after that first incident and tension increased. There had to be the fear that they might lose Violet to whatever had a grip on her. Violet would eventually be diagnosed with epilepsy and was prescribed a medication called Keppra. Was that all there was to this little girl’s condition? As Violet’s mum, Michelle had her doubts. Her intuition as Violet’s mum told her that there was more to the situation.  Mum holding her mini-me. Even at that early stage, she thought that there may be more going on with her daughter than just epilepsy. Violet’s initial care was being provided through the NHS, or National Health Service, and Michelle had her doubts about the diagnosis. Wanting to use every resource available, Michelle would seek the help of a private medical provider as she had health insurance through her work. Unfortunately, Michelle felt that this turned out to be just a waste of time. This was because none of the doctors through private medicine had a clue as to what was behind Violet’s symptoms. To make matters worse, they weren’t taking Michelle’s concerns seriously. It is outrageous to think about how she was treated by one doctor in particular. She explains, “I had a doctor laugh in my face when I told him something was off with her, I felt in my gut something wasn't right. He actually laughed at me and said "look at her, nothing’s wrong."’ Along the way, Peter and Michelle were advised to have an MRI performed for Violet as a precaution. This advice was given even though they were assured that there was nothing to worry about. What would seem to be alarming to most of us is the amount of time that it took to have the test performed and also, to receive the results. I have often heard of families, already in distress over their circumstances, having to deal with red tape and denials within a medical system. Between gaining the approval for the MRI and waiting for the results, it would take this family months to get the results of the MRI. Michelle explained, “The NHS made us wait for weeks before refusing to do the MRI. We then had to go through the longer process of waiting, being referred by an NHS doctor. The man waited 12 weeks for her results.” Weeks turn into months and the level of frustration increases by the day. Michelle would call weekly for some kind of an update but it was to no avail. On one occasion, Michelle would call and be told the following by a receptionist, “if there was anything to worry about you would have heard from us by now.” The MRI would be done in July of 2019 and the results wouldn’t come back until the following September. Peter and Michelle would finally be called to the hospital where Violet was seen by a neurologist and they would be told about the results. Michelle remembers the appointment like it was yesterday. After all of this they were only told that there were some abnormalities found. That is all. Genetic testing would be ordered the same month and that would of course, create another waiting period. At this point, other symptoms had started to creep in for Violet. The seizures increased and Violet was shouting things like the word mamma. One day the shouting sounded off and it was slurred. Violet also started wetting herself and she was stumbling over her own feet. Michelle had just thought it to be a phase that Violet was going through at that time. Looking back now, she knows that it was much more than that. The Painful Truth  What a flawless little face! Michelle remembers, “When I look back, I could scream at myself for not clicking on the fact that something more sinister was happening, but at the time everything happened so subtly. Is it crazy to say I can’t pinpoint a moment where I knew it was really, really bad?” In fact, Michelle had been convinced initially that Violet’s symptoms were related to a B12 vitamin deficiency. She would continue to google the symptoms over the time that her and Peter were waiting for the results of the genetic testing. This would take months and that would leave her a lot of time to wonder while she continued her research. One of the things that she ran across as she googled information was a genetic disease named Batten. Both her and Peter would have to be carriers of the same defective gene that causes Batten in a child. That makes Batten disease rare, affecting 2 to 4 children out of 100,000 here in the United States. She mentioned the disease to Peter and they discussed it. They both felt that the odds of Violet having such a thing were more that a million to one but Michelle knew that it was a possibility. The wait for the results of the genetic testing wouldn’t become available until the middle of January in 2020 and that would leave Peter and Michelle with time to wonder. Could Violet really have a genetic disorder? They would have no choice but to press on and put one foot in front of the other but then the day would arrive. Michelle tells us, “January 15th, 2020 will forever be embedded in my brain for all the wrong reasons.” Michelle’s baby girl, her mini-me, had CLN2 Batten disease. Her thoughts before that were conflicted. She perhaps had already known before the diagnosis that her daughter had Batten. However, she didn’t want to believe it to be possible. Michelle shared, “When I talk to people, I talk about life before that date and life after, and life will never be the same ever again.” Devastation has to be the word for any parent receiving this kind of news. That would certainly be the case for Peter and Michelle. No matter what would take place in the days to follow, it would take time to recover from the news that their little girl had Batten disease. Michelle had already done the research and her and Peter knew what this meant. Their little girl who had become the family princess had a disease for which there was no cure. It was fatal! There had been a groundbreaking treatment developed but they were told only vaguely about it. Peter and Michelle were just too overwhelmed with the news and the doctor didn’t know much about the treatment. The family was given a leaflet about it to read at home but didn’t think much about it at that moment. Michelle explained to me, “….I just thought we were given this devastating news by the hospital and just left to get on with it.” The information that was given to them was very important but it was lost in the grief that they were experiencing at that time. A family can feel so alone and confused at a time like this but help would come soon after the Joneses returned home.  A real princess! Michelle’s intuition combined with her need for help no doubt caused her to get on the internet as soon as they arrived home. She googled Batten disease and would find the help that she needed almost right away. She would actually find another mum dealing with Batten right there in Liverpool and in addition, would find a page for a couple of other young girls who lived in the UK as well. Their names were Nicole and Jessica Rich and they both also had CLN2 Batten disease. Their parents, Matthew and Gail Rich had started a non-profit foundation in order to help their little girls and to help others at the same time. Gail and Michelle were able to connect over social media and then Gail messaged her phone number to Michelle. Knowing Gail, it’s no wonder that she was a great resource and a fast friend to Michelle. She explains, “Gail was my rock when Violet was first diagnosed, I will always remember calling her the day after Violet’s appointment when we got the news. She was just so positive and made me dust myself off and get off the floor to fight.” And that is how it often happens. People come alongside you and you get picked up. Sometimes, you do so on your own accord but you do what is necessary in order to help your own child. In this case, Michelle had all of Gail’s experience and insight to draw from. Both of her daughters, Nicole and Jessica, had been receiving the new treatment for CLN2 Batten disease. Gail was certain to have had a wealth of experience to learn from. The therapy for CLN2 involves replacing an enzyme that is missing from the affected child with a solution named Brineura. This solution is infused into the brain through a shunt that is surgically implanted into the child’s head. Can you imagine what it is like for the parents as all of this is taking place. Knowing others that you can draw from as you experience all of this has to be so helpful but life after the diagnosis is still a struggle. Michelle stated, “The days and weeks after her diagnosis were a blur. I remember feeling numb and not being able to process the reality of what was happening. One minute you’re a family of four, you have the nice house, nice car, you go on two holidays a year, the kids have the best clothes and all of a sudden you are traveling to London every two weeks to keep your child alive.” Can any of us that are not in Peter and Michelle’s situation fathom such a thing? How life would change for this family. Both Michelle and Peter were working successfully in good careers. They had a good home and a good family life. Their hard work had brought this family of four the things that people would expect to come their way. All of a sudden, that was interrupted with the news that their daughter had CLN2. Now, Violet would have to have surgery to have the shunt implanted and there would be the infusions every two weeks. These would be done at the Great Ormond Street Hospital in London and that would require a 5 hour trip one way. Challenges Unseen  Now a warrior and a princess. There is also the financial cost of dealing with something like this. Michelle explains, “The biggest challenge to us after her diagnosis was cost. Not only were we going through hell after Violet's diagnosis, but as we both worked, we were not entitled to claim our travel expenses. We were paying ridiculous amounts of money to travel across the UK and stay in hotels every two weeks.” To make matters worse, Covid-19 had hit the UK a few weeks into Violet’s diagnosis and as a result, overnight stays had to be self- funded as resources became stretched. Michelle added, “It's something I look back on now and wonder how we did it. We would never of been able to afford it without the support from family and friends.” If you know anything about the staff at the hospital affectionately known as GOSH, you know that they are a great source of help and encouragement. However, the trip to and from had to have been grueling and difficult for a working family. As it is with many families that rely on Brineura treatments for their little warriors, it takes a while for a more local hospital to come on line with the treatment. That would eventually happen for the Joneses as the treatments became available at Manchester Children’s Hospital. After two and a half years of traveling back and forth to London they would then be able to have the treatments done just 45 minutes away. Michelle refers to this as being “life changing”. It is easy to imagine how that would be the case. Michelle finds the staff at Manchester to be amazing stating that “nothing is too much trouble for them”. Like all families that have a son or daughter with CLN2 Batten, the Jones family has settled into a new normal. Certainly, there are good times together and sweet memories are being made but life is still difficult. There is much involved in caring for a child that has CLN2, or any variant of Batten disease for that matter. All of a sudden, without notice, you become a family with a child that has special needs and those needs are constantly changing. There are infusions every two weeks and a host of other appointments. Medications for the Batten warrior can change constantly in attempts to fend off seizures or to help with a different issue. Changing needs regarding medical equipment are present also. That one person in the family affects all others living in the same home because so much attention is required. That’s what life is like for the family who has a child with special needs. Michelle stated, “Life since diagnosis has been hard. Am I wrong to say I was so bitter?” One needs to try to understand how much the life of a family is interrupted when something like Batten comes along. Michelle shared that it was difficult to be around other families that have normal functioning children. Especially when the children are at play. Michelle shared, “I couldn't stand it. I was so jealous. I probably still am, of people and their seemingly perfect lives.” An event would take place that would help Michelle in this way. That would be the birth of their little boy in May of 2021. He was a darling little man right out of the gate and they would name him Luca.  All 3 are beautiful! Baby Luca has been a ray of sunshine during some very dark days for this family. Michelle struggled with being around family and friends with children of the same age but Luca has helped to ease the hurt that she felt. The hurt will never completely go away but having Luca in their lives has helped. Michelle shared that the only negative may be that as Luca develops new skills, it will serve as a reminder of the things that they had hoped to see in Violet. Michelle says that she does have a group of mums that she speaks to most days. These other Batten mums understand exactly what she is going through. As Michelle shared, it’s nice to know others that get what you’re going through and that can relate perfectly to your struggles. Michelle adds to that, “….to be honest, I wouldn’t of got through the past three years without them.” Michelle and the other mums will even spend time together at a hotel from time to time and those times together are priceless. For Peter’s part, he goes about things differently. He’s more quiet about his struggle over Batten disease but it is a struggle nonetheless. He doesn’t spend a lot of time speaking with the other Batten dads. He just gets on with what life has brought his way while doing his absolute best for his family. His relationship with Violet is a special one and one might say that Violet has him wrapped around her little finger. This writer loves his son with special needs. I had wanted a daughter at the time my wife was expecting our Benjamin and I understand why Peter’s relationship with Violet is special. Peter tries to be the rock of his family and I know that he is that. He shared just a little with me, “Life is hard some days but I keep telling myself if it beats me then it’s won. I stay strong for Violet, Michelle, Millie, and Luca. I will not let it win without a fight and will do everything I can.” Peter had been working successfully in the plumbing profession since leaving school at age 16. He left that job to work as a Taxi driver last year at Christmas time. This was in order to be more flexible for Violet. Peter regularly accompanies Violet during her infusions and that says a lot to me about the kind of dad that he is. The bond that he and Violet share is a special one but this hasn’t been easy for Peter. He had to leave a profession that he loved because of the love that he has for his daughter. This creates more down time for him and that is difficult for a guy who is used to working longer hours. He is a rockstar dad in this writer’s opinion. Peter speaks more about this experience with this, “Me and Violet have a strong bond. She’s always snuggles in with me and we have loads of laughs everyday. The day we got told the news was the worst time of my life so far. Not knowing what would happen. Every time I thought about it I would cry. Thinking, what have we done to deserve this?” And yet, he kept going. You can be sensitive and strong at the same time. Michelle does feel that this experience has drawn them closer together as a family but life is harder for them. It is more difficult to spend time together with the rigorous schedule associated with the infusions and other things related to Violet’s care. The New Normal  Had to share! Things have changed drastically in the last 3 years but Peter has emerged as the stable force in the family. Michelle reiterates some of what has already been stated about Peter with this, “He was sent to me for a reason. I could never ask for a more loving, supportive husband. He's an amazing dad to all three kids, but his bond with Violet is priceless. She will only settle in his arms at night time. She only drinks if he holds her cup and she smiles for him more than anyone in the world. He's the most loving, kindest person I have ever met and everyone who meets him loves him.” Michelle continues while mentioning the other part of her support structure, “I'm lucky we are a strong family. Peter always picks me up when I fall, and we are surrounded by the best people. Family and friends are always there for us.” You know we haven’t talked about big sister Millie yet. I had to ask Michelle about her oldest daughter because I want to know more about her. She stated that Millie is the most caring and beautiful person, inside and out. Millie is the image of her father but Michelle says that she is feisty like her mum is. Being quiet and shy, her confidence is growing as she gets older. Her favorite place is at home with her family but she has plans for her own future. Millie is mature for her age and that is a credit to her parents. She might have reason to misbehave or act out. This, because of the attention paid to Violet or the trauma that her condition causes for others. For Millie, this has never been the case. Instead, She is a help to her mum and dad and to her siblings as well. I bet she realizes that she needs to be that. Michelle shares a little more about Millie with this, “I've never had a call from school with any concerns, and every time I speak to teachers at parents' evening it's always lovely feedback on what a nice, polite girl she is. On days we are out of the house at silly times traveling for treatment, she sets her own alarm and takes herself to school. I never have to remind her to do anything. Perhaps only taking the dog for a walk ha ha. She's an amazing big sister to both her siblings, but she's also an amazing daughter who I'd be lost without. She's my best friend.” Michelle thought back to the time that she lost her mum at age 14 to cancer. The trauma of having something like that happen greatly affected Michelle’s attitude and attendance at school. While understandable for a young girl, Michelle has had no issues at all with Millie in that way. Millie is exceptional and mature beyond her years.  What a special family! Violet is without a doubt, a beautiful little girl and it’s easy to see even from a distance why she is so loved by her family. I have already stated in so many words but I will do it again here. A child's life should be filled with innocent fun and laughter as life's lessons are learned. It breaks our hearts when they are not left to enjoy life in the way that they should. And still, these kids that battle are so resilient. Michelle shared, “Violet Jones is our inspiration. That little girl blows me away with her daily battles, that she faces every single one with a smile.” Those of us who follow these families will notice something. That is the profound type of love that surrounds these children. Love mixed with heartache produces a type of love that is profound and undying. That is what we see in these families when they are on this type of journey with their little warriors. More will be dealt with than could be expected from anyone. Respect, love, and admiration is due to people like the Jones family. Like so many families that battle, they provide their daughter with everything possible in order for her to fight against Batten disease. Michelle again shares, “Violet may have one of the most devastating conditions, but she does have the most loving team/family behind her that will never stop fighting for her. Her fight is our fight.” Several times I’ve received comments from moms or mums saying that they’d do almost anything to help their little warriors. They would go as far as trading places with their child if they could.
In her own words, Michelle would do exactly that if she could, “I'd swap in seconds with Violet. I wouldn't even have second thoughts, if I could take this away, she would be living a normal, happy life right now.” There is always hope when there are people that care. I have seen changes in the search for a cure since the time that I first started to follow kids with Batten disease. What I had seen first was an increase in the rate of speed at which doctors would find a diagnosis. That was so critical. The start of the clinical trial for enzyme replacement therapy was another big milestone. The hope for the longest time has been that gene replacement therapy would be realized soon. That is one of the best avenues for a cure. It’s been promised but has not yet come about. As of late, there have been greater advances in research and that means gene replacement is close at hand. Maybe this is helped by the fact that the pandemic known as Covid-19 is not as big of a threat as it once was. Who knows! There is real hope in the air for children like Violet. Let’s hope and pray for the best. In the meantime, the Jones family will do their absolute best for this darling girl of theirs. Wouldn’t we all do the same? Michelle speaks of what other people see in Violet, “Everyone who meets her falls in love. She makes us both proud every single day. She is the most loving little girl and has her daddy wrapped around her little finger.” To be honest, I’d be wrapped around her little finger as well! When I post on social media or write in this blog, I often repeat myself frequently in order to place emphasis on certain thoughts. The following words may seem like just a catchy little phrase but they really do come from the heart. “These kids, they are the most special and they are the most amazing.” Yes, there are other types of battles that affect children but of this one, I was first made aware. These kids are so worth the time and they need to be honored through every means that is possible. I had originally written so much of what I repeat for the kids that battle Batten. These words however, can be extended to children that battle other rare diseases. I understand that this is not an alpha male activity that I’ve involved myself in and I don’t care. I first gave a piece of my heart to one little girl and that affected my way of thinking and the way that I go about living my life. There truly is something special about a kid that battles. The resilience that is present in a child is brought to the surface in a big way when we see them fight their battle. They are so amazing to me! They do produce feelings in us that would not otherwise be present. Violet is precious and I’d hoped for some time to have her story in this blog one day. I’m so glad to be given this opportunity to tell others about her. This is another special family from the United Kingdom and one that I had hoped to write about. Thanks to Peter and Michelle. Thanks to everyone for taking the time to read this and for sharing this family’s story with your friends. Very sincerely, Your friend and Benjamin’s daddy, ~Greg Lopez~  Beautiful - Absolutely! “There are not many things in this life that make you want to change everything about yourself to become a better person, but having a child is one of them …. When Evelyn was born I remember looking at her and realizing ‘you are completely dependent on me, I will do everything to keep you safe’. Promising her that I would do everything in my power to protect her. She was perfect and I was so in love with her.” ~Mike Jackson~ Evelyn’s Father and Co-Advocate It’s the same wherever you go. Two people meet and fall in love. Soon, the desire to have a family together will follow. There will most often be different backgrounds and upbringings involved and the circumstances for each person will vary. The differences do not matter though because there is something right about being together with this person that comes into your life. The result is a life spent together and that life will soon include having children. Sometimes, you can call a life together a small town story. Two people from a small town or city meet and they fall in love. Other times, the story of a life together involves two people from two different places a distance apart. Their paths crossed because they were meant to be together. That is through the good times and through those that are difficult. No one knows completely what the future holds as two people enter a union but there are things that are expected. Sometimes, events can take place that are so unexpected that they leave us overwhelmed. It’s these types of events and the circumstance that they create that this writer likes to bring to light. There are people out there passing you by on the street that have circumstances that most of us will never experience. Their stories need to be told. People need to be made aware. The story that I will soon get to involves a couple that met while each of them was serving in the United States Navy. This is of interest to me because this writer served in the same branch of our military. In fact, I also met my wife while I was in the Navy. She was serving on the same navy base that I was at the time we met. I was from the south Bay Area in California and she was from Central Oregon. We first made contact with each other in the lounge area of the enlisted barracks at NAS New Orleans in Louisiana. She walked up to me and said hello. I acknowledged her and said hello back but I had no intention of going any further in getting to know her. Then on a certain day, she walked past me while I was just sitting there minding my own business. This time, she was dressed in such a way that she got my attention. This involved a certain pair of blue jeans that I will never forget. She had dressed that way intentionally, just for me. It worked and all of a sudden I was trapped. There would be no turning back. That was over 40 years ago now but I still remember that time in our lives. We had a blast together back then in those carefree days and thinking about them brings back fond memories. Our marriage would be followed by children, our first of which would be born while my wife Rosemarie was still enlisted. We never took the time to plan out our family. We just knew that we wanted one. Life would change a little with each child that was born. There was first Daniel and then Kenny our middle son but we weren’t quite done yet because we wanted one more. Two children would have been a great number but we were meant to have a son number three. No one can know completely what the future will hold but there are things that can be expected. There are all of the life events that come our way and of course, there are bumps and bruises as we travel down life’s road. Hopefully, the struggles that we experience are ones that can be overcome. Sometimes, there are challenges that no one could see as a possibility. Several people that I have met have a person in their family that has special needs. For us, there was a history of people with special needs that ran in my wife’s side of the family. She had mentioned that it could be possible for us to have a special child, however I never gave it much thought. We had been lulled to sleep somewhat by the fact that our first two children were apparently normal and healthy as we planned to have one more. And then it happened. We were given a very special individual in our son Benjamin. Yes, there have been challenges along the way, both financially and otherwise, but we don’t carry a lot of regret. We knew that our lives had been changed as this person came into our midst almost 32 years ago but we feel that our lives had been made richer by the experience. We can say that we share certain things in common with everyone who has a child with special needs but there are some things in which our experiences cannot compare. Some become the parents of a child with special needs as they are thrust into the unexpected. What I mean is that sometimes, as two people meet, they have no knowledge that having a child with special needs is a possibility.  One nice looking couple! Even further from one’s thinking is the possibility that a child could be born with something like a rare disease that is fatal. These are children with a very rare kind of special needs. Completely unaware of what they will face as a family, the parents welcome into their presence a beautiful baby boy or girl. All of the normal things that are usually experienced come with great joy and expectation. Milestones are met as the cute things that tiny tots do are seen by the parents and those who are friends and extended family. There is nothing but great expectations as this child’s life shows so much promise at the onset. Things then change. This child that brought such joy now brings some special challenges. There are many things involved that are yet to come and still unknown about. At the beginning, there is something a little different that is seen in the child. A developmental issue or something in the child’s behavior is noticed and this brings concern. Soon, the issues are seen to be outside the normal range of things and a search for answers becomes something of the greatest importance. Perhaps the search includes answers as to why this child’s speech is not developing as it should be. What if in the course of the search for an answer, this child has a seizure. You’ve never witnessed one and you may not know what is being seen. It can bring a panic situation that has never been experienced. This is how things often begin for a parent of a child with something like Batten disease. To me, these families and their stories are truly special because of that which is experienced and because of the type of love that is exhibited on a daily basis. It is a sacrificial type of love that reveals itself through emotions felt and through actions that are taken. That type of love is seen in this next story. Let’s not waste anymore time getting started. Like this writer and his wife had, Mike Jackson and Corrin Ricketson would meet while each of them was serving in the navy. The circumstances however, were a little different. Both of them had entered careers in the nuclear navy as Electrician’s Mates. The word mate is usually included in the title for many navy career fields onboard ships. How about some background information. For example, a Boatswain’s Mate would help steer a ship and perform other duties on the deck. A Machinist’s Mate would operate and maintain equipment. An Electrician’s Mate would be responsible for, among other things, electrical power generation systems. The level of knowledge and responsibility increases when we are talking about nuclear power on a naval vessel. The navy finds the best and brightest of individuals to fill these jobs as the training is technical in nature, to say the least. When you reach the level in the ranks that is considered a non-commissioned officer in the navy, you then are known as a Petty Officer. You first become a third class petty officer, then a second class, and then a first class petty officer. Many career minded people strive to become a chief petty officer which is an E-7 in the enlisted ranks. E-9 is at the top. When you’ve made it to Chief, you’ve achieved something but that can be said for every level of petty officer. A first class is held in high regard because that rank is not easy to achieve. So with that in mind, let’s talk about Mike and Corrin and their meeting. Corrin had enlisted in the navy right out of high school but Mike had waited until he was 23 years old. They would meet while serving on the nuclear powered aircraft carrier named the USS Harry S Truman. They would both get to that ship in different parts of 2009. By the time they had met, Corrin had achieved the rank of first class petty officer (E-6). The carrier that they were stationed on had two nuclear reactors. Of the two of them, Corrin would become the Leading Petty Officer of the electrical plant for reactor number one. Mike would also achieve much during his time in the navy but at the time he and Corrin would meet, Mike was junior to Corrin in rank being a third class petty officer. Corrin remembers that she and Mike met while they were sitting at the tables in the galley during lunchtime. Both were with a mutual friend that Corrin had served with on a previous ship. Along with the other newer people on board in the Reactor Electrical Division, Corrin was trying to get to know Mike. She recalls that she thought Mike to be on the shy side but she wanted to get to know him as an LPO. This was for the purpose of deciding which reactor a particular person would serve at and Corrin wanted to speak with each of the new people. Mike, however, was not engaging in conversation and instead was looking down, leaving Corrin to wonder what was up with him. The Crossing of Paths  Although she was a little confused over Mike’s quiet manner, she was certain of one thing. That is that she was attracted to Mike. Corrin recalls, “….he had his sleeves rolled up, and his tattoos were poking out. I remember thinking that he was really cute, and he should probably go to the other plant so I don’t stare at him all day long while we work, because it would be unprofessional.” And so it would be that Mike would wind up serving in the electrical plant for the opposite reactor that Corrin was attached to. Mike and Corrin’s paths would not cross again except during training and one port call. This took place in the country of Dubai while being deployed in 2010. She explained that it was at a local hangout for sailors that she helped Mike escape the “clingy fingers” of another female that had an interest in him. Apparently, Corrin was not the only one that thought Mike was attractive as she had intervened to break things up. Mike was appreciative of Corrin’s help and the seeds for a friendship were being planted. They had no idea at the time, but more than a friendship was in the process of developing. Feeling that she had achieved everything that there was for her to accomplish while serving, Corrin would leave the navy in December of 2010. The next step was to figure out what she wanted in her next career. She didn’t know what that was as 2011 rolled around, so Corrin decided to take a photography class in junior college. This would turn into an associates degree in photography a year and a half later and she would accomplish this using the 9/11 GI Bill. Corrin had stayed in the general area where the Harry S Truman had been home ported and many of her friends were still active duty navy. It was still 2011, in February, when the Harry S Truman was out to sea on training exercises and Mike was still serving on board. Facebook popped up with a notification that she and Mike had friends in common and that she should friend him. Corrin did so and messaged Mike asking how things were going. While doing so, she did notice that his status showed that he was in relationship but she thought nothing of it. They did socialize a few times as the ship returned to port and their relationship would soon take a big step forward. Corrin explains, “One Friday night a bunch of us went to dinner at a restaurant. There were so many of us that the table was extremely long. So long I was texting the girls at the other end instead of shouting. I look over to Mike sitting next to me and he is under the table trying to hide that he is texting someone. I call him out for hiding his text when the rest of us are not being shy about it. So he holds his phone up for me to read and it’s a text to me asking if I wanted to hang out afterwards.” That was the moment that things would take a big step forward and Corrin explained that they were inseparable after that evening. There were many late nights spent together and they texted one another constantly when they were apart. By March, Mike and Corrin had become boyfriend and girlfriend. They would find a house to rent together as they neared the end of 2011 since Corrin was living at Mike’s apartment most of the time anyway. Things were really taking shape but as the case can often be, the needs of the navy would put a demand on their relationship. This would happen during the Spring of 2012 with Mike expecting to come up for orders to a new duty station. He knew he would be going to the Naval Nuclear Power Training Unit in Ballston Spa, New York where he would serve as an instructor. This would present a dilemma as Corrin had started a new job at the Newport News Shipyard. Understandably, she would be unwilling to leave that position with where their relationship status was currently at. The Harry S Truman was in and out of port getting ready for deployment but would be home for 36 hours around the 4th of July and that would give Mike an opportunity to fix the situation. Mike asked Corrin out on a dinner date and insisted that they dress up for the occasion. Mike did what any sensible guy would do in this situation as Corrin explains, “He proposed that night at dinner. I was looking at something in the distance and turned back to find a ring box being held by Mike. He had a glimmer of a tear in his eyes when he asked me to marry him. I sat there blank for a moment, my brain yelling to close my mouth and tell him yes.” There were things running through Corrin’s mind as Mike had not yet transferred and with the ship getting ready to deploy. One concern was that he would not be able to come home if something happened to Corrin given their relationship status being single.  Wedding Day! The other thought was that she would gain the addition of Mike’s military benefits if their status changed to being married prior to him leaving on deployment. Organizing an actual wedding in such a short period of time was not possible. Mike was from the state of Michigan and Corrin was from California and they were both living in Virginia. This would only complicate further any plans for a full scale wedding. All of these thoughts were running through Corrin’s mind as she posed the idea of elopement. One of the benefits of that would be a money savings that could be applied to an actual wedding at a later date. They didn’t know at the time but that event would never actually become a reality. Mike could only agree as all of this made great sense and of course, Corrin would say yes to Mike’s proposal! Corrin would go on to find a company that did elopements on the beach. The wedding included a photographer and the company allowed two guests as witnesses. The whole thing sounds very romantic. So it was on Tuesday, August the 14th of 2012 that Mike and Corrin would become man and wife. For the most part, the only ones that would know this was the United States Navy and a few close friends. They went out for Mexican food with some of those friends afterwards and it was back to work the next day. Family members would eventually put two and two together as they saw the wedding rings and not everyone would be happy. Sometimes though, you have to do what is necessary at the risk of not pleasing everyone. Events would one day follow that would keep Mike and Corrin from having a larger wedding and honeymoon. Some of those events are yet to be talked about and as it would happen, the deployment for the Harry S Truman would be postponed the night before the ship was scheduled to leave. Mike would transfer to Ballston Spa, New York before the deployment happened and that is where Mike and Corrin’s story would continue. Mike would transfer in May of 2013 but he would go to New York alone at first. This was because Corrin had some work related business to take care of before she herself could transfer. They would start a family almost immediately but not one of the human variety. They first wanted to have some canine type kids. That was Mike’s idea actually. He had always wanted a dog growing up but his dad was allergic to them so Mike had to wait. Now was the time since he had relocated for shore duty and he and Corrin had plans to buy a house together. Mike would drive four hours to Vermont where he would pick up their first Australian Shepherd. Mike and Corrin’s new dog was a male and they would name him Skyler. With Corrin’s absence, the couple would Skype together in the evenings and those meetings would include Skyler. It would be later, in 2014, that Skyler would be joined in the family by a female Aussie Shepherd which they named Raine. The next big event in Mike and Corrin’s story would take place during the months of July and August of 2014. That is when they would travel to Seattle, Washington to attend a wedding for one of Mike’s Buddies from the Navy. It was also at that time that they would go on an Alaskan cruise for their two year later honeymoon. This would give them the chance to preview the Seattle area. The Seattle weather was beautiful when compared to the frigid winter temps and afternoon thunderstorms in Ballston Spa. The area really caught Mike and Corrin’s eyes and it would one day lead to a move west. It would also be close this time that discussions about when to have children together would take place. Mike was ready. He recalled to me an experience that he longed for and it was prompted during an evening out with Corrin. Here is some of what he had to say, “We went out for dinner one night and sitting next to us was a family – a mom, dad and little girl who was maybe 4 years old. I was listening to some of their conversation and she was just adorable. I remember thinking to myself how I can't wait until I have a little kid like that and I can have these conversations with.” Corrin however, would have mixed feelings on the matter. She had been enjoying life as it was. She loved the nights out with her lady friends and her and Mike’s weekend adventures kayaking or riding in hot air balloons. All of this type of thing would come to an end if there was a baby involved. Even so, at some point, Corrin would want to be a mom. It was just a matter of when. A Single Moment  Decisions can be impacted by events that happen within a single moment in our life. That is what had taken place one day as Mike and Corrin were out with the dogs at a park. It was on a day in October of 2014, when a pack of playful dogs ran right by Corrin. All of them missed her except the last one which ran into her right knee. She needed to see a doctor. Skylar and Raine were dropped off at the house as Mike took Corrin to the ER. Once there, they would find that her fibula patella was fractured. An MRI that was done the next day would show that her ACL was only stretched and so surgery would not be required. Corrin was put in a full leg brace and would be warned by the doctor, use caution in regards to gaining weight when pregnant. It was depressing for Corrin to watch the effect that the injury had on her leg with the atrophy of the muscles around the injury. Home on worker’s compensation for two months, Mike would offer to take her for a ride when he got home from work. I am sure that it wasn’t funny at the time but as Corrin put it, “…. like I was a dog, excited to see out the window at the big world.” This would certainly put any plans to start a family on hold until Corrin’s leg could bear the weight. Another factor would be that Corrin was due to make a job change a week after she returned to work. This was because she had accepted another position at the navy site she already worked at before her injury. She needed to work long enough to gain the twelve weeks of paid time off for maternity leave and this meant more waiting time before starting to have children. Mike wasn’t too happy with this as he really wanted to start their family. Regardless of what either of their feelings were about the timing of a pregnancy, Corrin would soon find out that she was pregnant. Perhaps on a hunch, she decided to take a pregnancy test before a barbeque on Memorial Day weekend in 2015. The test result was positive. Corrin was due to have their first child and you just know that Mike was so happy to know this. He had been working rotating shift work at the NPTU (Naval Nuclear Power Training Unit) in Ballston spa and was ready for this next chapter in his and Corrin’s life together. That life would take on new meaning as parents and there was much that was looked forward to. In spite of Corrin’s injury to her knee, she would find that her pregnancy would be uncomplicated. There would be no symptoms of any kind, no morning sickness, and no weird cravings. The months would pass as they lived life with the expectation of welcoming baby number one. This would include the holiday season for 2015 as Corrin’s baby would be carried full term into the new year. So it would be on the 18th of January in 2016 that the big day would arrive. Corrin would go into labor in the early morning hours after her water had broken. Mike became anxious as he was given the news by Corrin, waking for work at around five in the morning. He started to pack frantically for the hospital but was reminded by Corrin that things didn’t work that way. With the lack of complications, they didn’t need to leave for the hospital until her contractions were less than five minutes apart. With that in mind, they would wait what seemed like all day to go to the hospital. Mike said that it felt like the longest wait of his life. Finally, the contractions would become close enough to go to the hospital at around two in the afternoon. In fact, the contractions were so close together that they questioned whether they had waited too long. As Mike and Corrin got to the hospital and were registered, they pushed for her to have an epidural as Corrin was in a lot of pain. She would get that between five and six o’clock in the evening. Unfortunately, as Corrin received the epidural the contractions stopped and the waiting game would start back up. It would be another eight hours or so for Corrin to become dilated enough to start pushing and she would be given the drug named Pitocin in the process. This was in order to help get the contractions to increase because they were staying about five minutes apart. Finally, at about one-thirty in the morning on the 19th of January, Corrin could start pushing again. It would still take a couple hours for their baby to make its appearance but it would be worth the wait in the end. The event is something that most every couple looks forward to experiencing together. Mike and Corrin would get to say hello to their newborn baby girl at about 3:45 a.m. on the 19th of January in 2016. She was so perfect and she was perfectly beautiful. Mike and Corrin named her Evelyn Annalise Jackson. Baby Evelyn had all of her fingers and toes and she also had the most adorable little face.  A stunning pic! The event would be life changing for both Mike and Corrin. They now had this little life that they were responsible for and much of their world would revolve around this child. Mike realized at that point that his daughter would be dependent on him for her protection. He would do anything in his power to provide that. This was his firstborn child and the experience for him and Corrin was like no other. Baby Evelyn was flawless and she was adored instantly by her mom and dad. At this point, Mike and Corrin had no reason to believe anything other than that Evelyn’s life held immeasurable promise. There were all of the normal events that were to be looked forward to as life continued. Mike and Corrin’s responsibilities revolved around helping Evelyn to experience life to the fullest as they guided her along the way. They were now a family. Just as would be the case with any newborn, there was the initial health screening that would take place and Evelyn was found to be healthy and whole. Even with the promise that was felt, Corrin did have some concerns that would stay in the back of her mind. One was that her father had a cousin with Autism and she thought that it might be part of the family genetics. One of the screenings that they had not been able to complete checked for the presence of such a thing. Named the nuchal translucency test, it measures the nuchal fold thickness. This is an area of tissue at the back of an unborn baby's neck. Measuring this thickness helps assess the risk for Down syndrome and other genetic problems in the baby. Mike and Corrin also opted out of having genetic testing done. This would have checked for the presence of the 300 most common diseases in children. Prior to Evelyn’s birth, Corrin had experienced recurring nightmares that her baby was to be severely disabled. Even before the gender reveal party, she knew that the baby was to be a girl because that was always the gender of the baby in her dreams. Was this a sign of something that was to be part of their future? With the presence of such a perfect baby, one could only put these types of thoughts far away from their thinking. Corrin mentioned that this all may have just been the result of the nerves of a first time mom. Evelyn would pass her newborn screening and this led her parents to believe that everything would be okay with her. As a former Lead Petty Officer and an Electrician’s Mate in the nuclear navy, maintaining a nuclear reactor on an aircraft carrier was not a major challenge for Corrin. Neither were the positions that she held after leaving the service. However, in the hospital that first night and in the first few days at home, things were different. This brand new little baby girl was dependent on Corrin now and the experience was a little terrifying at first for her. Corrin explains, “I was excited to hold Evelyn, terrified to figure out nursing, and losing my mind trying to figure out how to get her to stay asleep .… I was so lost the first night in the hospital. She would not stay asleep. Was she afraid of the dark, should I keep the lights on some, does she need changing, because people say a wet diaper will wake a baby?” Corrin continued, “By morning I was in tears, and asked for the nurses to take her so I could get a nap, I was failing as a mom. I walked by the nursery and there she was asleep, like how do they do it?” The challenge of figuring out nursing and being able to do it pain free was a major problem at first. Then there was the challenge of getting little Evelyn to sleep once they arrived home. She wouldn’t be able to sleep for more than 45 minutes at a time. This would be hard on mom as she herself needed to sleep. The struggles over nursing continued and most everyone that Corrin reached out to for help was unable to offer any. She was, however, able to call one friend in Virginia Beach that could offer some insights. It was a major ordeal for this new mom at first but she would figure things out in time. Corrin would have to because she wouldn’t be able to become part of the local mom tribe until her next child was born. Mike would take three weeks off from work when it was time for Corrin to return to her job. This lasted until daycare had a spot open for Evelyn. It was business as usual for Corrin as she returned to work. There weren’t a lot of emotions involved and pumping milk for her baby was not an issue. Life moved along for this family of three, just as it should. Evelyn would meet all of her milestones in the next 10 months. She sat up just like she should and she began to crawl right on schedule. Evelyn was her daddy’s baby girl and the pride of her mom and dad. The Next Stage The next big event for this family of three was Mike’s exit from the navy as his enlistment would end officially in August of 2016. Just as Corrin had during her enlistment, Mike achieved the rank of First Class Petty Officer or EMN1 (SW). In addition to achieving this rank, Mike also finished his bachelor’s degree in nuclear engineering technology. The combination of his navy training and experience along with his degree more than prepared him for the job market. It was unintentional that Mike would draw attention to his career skills prior to getting out of the navy but things would just happen that way. This took place as he was viewing positions that were mentioned on a Facebook page named Navy Nuke Job Finder. He responded to someone that had mentioned a position in Data Center Operations. There was interest in Mike for a position in Eastern Washington state, however Mike and Corrin were interested in moving to the Seattle area. After Mike gave a counter offer that included a request for a position in Seattle, he would accept a job at AWS (Amazon Web Services) as a data center infrastructure chief engineer. Their move west was on and moving to the Seattle area would take place in October of 2016. Mike and Corrin would take with them a beautiful little girl that was now ten months old. This family’s life together was now taking shape. The time that each of them had spent in the service had paid off. Mike had a position that provided for the family and they had moved to a place where they really desired to live. There were also no concerns that involved the needs of the navy. They could settle in and enjoy their new surroundings and a life spent together.  Little cutie! The future also looked bright for little miss Evelyn. She would develop normally even up to two years of age, meeting all of her milestones. Evelyn had started to walk at fourteen months and other than being a little small in size compared to other children her age, she was right on track. She said her first words right when she was supposed to and she would try many different kinds of foods. She wasn’t a picky eater. Other moms would remark about how smart Evelyn was while their kids were on playdates with her. They noticed that she loved to use her words. Corrin remembers that one of Evelyn’s favorite first phrases was “Read Please” and that they would do together. In addition, Evelyn and mom would work on puzzles and would do flashcards together. There were, of course, some minor challenges in Evelyn’s early development. Corrin would be reminded by friends and family that these were things that would straighten themselves out in time. Corrin remarked, “It took me forever to get her off the animal sounds when we did flashcards to actually telling me the name of the animal. She would jabber so fast I had no clue what she would say. But everyone kept reminding me it would come with time.” Evelyn was physically active just like her peers. She loved to run and jump, just like all the other little people her age. It would be around two years of age that Mike and Corrin noticed that things seemed to be a little off with Evelyn. Mike said that it was like her development had hit a brick wall. He gave one example that I wanted to share, “She loved vanilla wafer cookies, I would always pull the box out and tell her I will give you as many as you want, you just have to tell me – she would always ask for two. I thought it was cute, but after months of this it was odd to me that her answer was always two.” Corrin gave another example that related to Evelyn’s diet. Whereas there had not been a limit as to the things Evelyn would eat, she started to refuse many foods, settling on just a few items. Corrin stated that Evelyn had developed faster than her peers in things like language skills. However, they would catch up and pass Evelyn in several areas. Whether or not to seek out help was a source of discussion with family members. Was Evelyn just developing at her own pace when it came to her speech or was there something to be concerned about? Corrin would get help from another person within the mom tribe. This mom would share her own experience in this area, even lending Corrin materials to use. It would be July of 2018 that Corrin would take Evelyn to the doctor to have her speech evaluated. She was then almost two and a half years old. The doctor would agree that Evelyn needed some help in this area. The end result would be that she would receive twenty therapy sessions, lasting from September until February of the following year. This would bring about some improvement. Corrin stated that Evelyn’s lack of skills in the area of her speech would also affect her behaviors. Evelyn would sometimes lash out because of the frustration of not being able to communicate effectively.  So unhappy! As the initial speech therapy sessions were completed, Evelyn would become eligible for more services through the school district. It was now March of 2019 and Evelyn would be evaluated using a combination of testing and information provided by Corrin. Much to her dismay, Corrin’s input would be ignored and disregarded leaving the school psychologist and other staff with only partial information. They would come to the conclusion that Evelyn’s behavior was just fine but that couldn’t be further from the truth at that time. Corrin stated that Evelyn had an episode just as she had left the car because she wasn’t allowed to bring a favorite DVD with her into the building. She had been crying, screaming, and thrashing out because of this. The four adults that were giving her all their attention during the evaluation had seen none of this behavior. To her parents, Evelyn’s behaviors and the addition of other delays was startling. For instance, there was potty training. Evelyn would have no problems initially with potty training but would stall in that area as well. She would never get to the point where she could do the entire task without assistance. Also, Evelyn couldn’t stay in regular underwear because of her inability to pull those and her pants up properly. Even so, Evelyn would stay potty trained, having only occasional accidents due to not reaching the toilet in time. She also would not reach the point that she could dress herself completely without assistance. Things like hitting and pushing, throwing things and crying were commonplace. Shocking as it might be, she would even drop her pants when she didn’t want to walk anymore. Her behaviors were really starting to get out of hand and were becoming a major concern. Mike said that Evelyn would begin to develop sensory overload. How taxing would it be on a parent to have to deal with an issue like this? Mike explains, “Anytime we tried to go anywhere or do anything she would immediately begin crying hysterically. Over the course of the next 18 months it was really hard for me to want to go anywhere with her because I knew she was just going to scream and cry the entire time.” Mike would go on to talk about one night out with Evelyn after Corrin set up a father-daughter date (Evelyn was just a couple of months past her second birthday). In Mike’s own words, “…. This was the first real time we were going to go out and do something just daddy and daughter. I thought I would take her to the mall and we would ride some of the small children's rides and play some games, but as soon as we got there she had her usual meltdown. Despite this we tried to go in and I was hoping she would warm up to it, but she couldn’t handle it. She fought me to get on rides and kept asking for the car so we could leave. It made me feel terrible, like I was failing as a father.” How disheartening this type of thing would be for a person who was so fulfilled by being a father. Why was this type of thing occurring? Mike would look at other parents having daddy-daughter dates and he would wonder, why not him and Evelyn? Mike shared that he couldn’t even get his daughter out of the car without her going into full meltdown mode. What a disappointment for a dad that loved his daughter so much. The meltdowns also took place when Evelyn was at the playground. This was a concern for sure because those meltdowns would involve other children. Whereas Evelyn once loved the playground, she would now be overwhelmed as soon as they left the house. She was so frustrated anytime they took her to the park that she would look for a child to hit right away. Disheartening is the word that Mike used to express how he felt as this was taking place. Corrin shared one incident that took place while at the park with Evelyn that still haunts her to this day, “At a playground she pushed a kid near a slide. Well, he fell towards an opening for a ladder, falling a good 10 feet to the ground. I was horrified, and mortified watching this mom examine her poor boy. All the while Evelyn didn’t get it. There was no remorse, no care …. she was just upset she couldn’t go play. I have never been back to that playground since. It terrifies me with PTSD.” As parents, this would leave Mike and Corrin bewildered and they felt as though they couldn’t take Evelyn anywhere. Could we even imagine? At around 3 years of age, Evelyn would begin preschool. In time, Mike would learn that the teachers were making no attempt to include Evelyn in the classroom activities but would instead leave her isolated. They would do things like feed her crackers and give her their phone to play with in order to keep her entertained. Of course this would be upsetting to find out about. The Complete Family  The complete family! The Jacksons had hoped that Evelyn’s issues would be ironed out and they had wanted to enlarge their family by one more. Corrin had been carrying their second child since Evelyn’s was about two and a half years of age and the time would soon arrive. Corrin would give birth to a boy and just as they had been the time before, they were pleased and excited. Welcoming their baby boy into the family, they named him Dominic Everett Jackson. Dad had loved his newborn daughter at first sight and now, he had a son. Corrin felt as though their family was complete and still, they had the challenges with Evelyn. Baby Dominic made his entrance into the family on April the 11th 0f 2019, being born in Renton, Washington. Life would continue and it would involve a mixture of feelings. There would be joy over the birth of their new baby boy but also, concern over the issues surrounding Evelyn. Getting her to eat her normal food was another challenge. Why were things that are so basic in life so difficult with her? Why was this perfectly beautiful little girl so unhappy? She would fuss over her food even to the point of having meltdowns. What was really disturbing is that she would eat dirt and sand anywhere it was available. It is normal for kids to eat a little as they are growing but not in the quantities that Evelyn was. Corrin recalled that it was in July of 2019 that they would take their first overnight trip with kids to a place named Ocean Shores. Evelyn would fuss and scream while they were out for Mexican food because her tablet was no longer connected to the WIFI in their room. She wouldn’t touch her food. Corrin described the scene and to a few it may seem all too familiar, “She screamed at the food. Dominic was a cutie just sitting there at three months old. It was super embarrassing when an older couple came and said over Mike’s shoulder we get it, we’ve all been there. Afterwards we went to the beach to watch the sunset and Evelyn literally tasted every spot of sand. Like it was a freaking buffet.” Corrin went on to say that Evelyn just screamed for her tablet once she was done with the sand. Playing in the water like a normal toddler was of no interest to her. That was it! The entire thing flooded Corrin’s mind with thoughts about what might be taking place. She started to google some of the things that she was seeing in Evelyn on the drive home. Some that she mentioned were, “….delayed speech, repeating words over and over (echolalia), and obsessive interests in objects like the backpack or other stick objects.” Evelyn had started to carry a child’s backpack obsessively after her pacifier had been taken away. She would play with it non-stop, chewing on the straps. She would even get tangled in it as she attempted to carry it up and down stairs at the playground. There was also her short attention span and being disinterested or unaware of people who were around her. In the course of time, Mike and Corrin would have Evelyn tested for a variety of things. In August of 2019, Evelyn would be evaluated for her speech, feeding, and sensory issues. An occupational therapist is not someone that you might normally think to be involved with childhood health issues but their input is valuable. They have the ability to assess developmental skills as well as vision, strength, and neurologic function. Things like fine motor, visual motor, and gross motor skills are looked at when a child is seen by an OT. A standardized assessment might also be completed. Corrin shared what one therapist had said to her, “The therapist said she probably has sensory overloads. Thus her need to scream, howl, and to be loud, to hit things, to jump, swing, and to taste things for sensory input. It made sense. I thought I was getting somewhere and I could help Evelyn.” Sensory processing disorder was something that was treatable and Evelyn certainly fit into this category. Evelyn would also be tested for a disorder called Pica. This is a disorder in which people compulsively eat things that have no nutritional value. Evelyn’s desire to eat large amounts of sand and dirt would lead people to think this to be a possibility. Pica can occur in children with intellectual disabilities. It seemed like almost everything that Evelyn was evaluated for resulted in a positive diagnosis. Her results for Pica though, had come back normal. Another possibility was the presence of ADHD. Corrin had mentioned to Mike that she felt that autism could be a possibility. This as Evelyn had been showing some of the symptoms of that disorder. It was a confusing time though as friends would share the experiences they had with their own children.  Why so troubled? Their friends felt that they themselves had gone through similar things with their kids and that children just develop at their own pace. Mike said that he had been reinforcing to himself the feeling that everything would work itself out with Evelyn. Things were going to “click”. As time went on though, he began to concur that autism was a strong possibility. Evelyn would get put on a waiting list to be tested for autism. The wait however, was a year long. Could they wait an entire year? The presence of Evelyn’s little brother Dominic had created other issues that were difficult to deal with. Dominic had just been busy being the baby of the family but Evelyn was not happy about the shared attention that was now required. She had been okay with things when Mike had been at home but not after he had returned to work. Corrin explained some of what was experienced, “….when it was just the three of us, and I was trying to nurse Dominic on the couch and had cartoons on for Evie, it wasn’t enough. She would pick on the dogs, throw things around, knowing I was stuck with a newborn on me. People would tell me to put the dogs in another room, but Evelyn would howl until our male dog would chime in at his high pitched tone.” Two children would be twice the work for sure but Evelyn’s behavior was making things much more challenging than that. Corrin stated that she would be in tears most days, not always knowing what to do. She could only believe that this wouldn’t last forever and that she must endure no matter how difficult. Even so, Corrin must have been conflicted in her feelings for her daughter. There was no manual that came with Evelyn that gave instructions for dealing with such extreme behaviors. There would be days when she was difficult to love because of the way that she acted out for no apparent reason. Why was she so troubled at such a young age? Another difficult challenge had to do with how Evelyn’s behaviors were affecting friendships with other families. It was also difficult any time she was out in public settings. Corrin gave some examples, “Friends stopped inviting us over because Evelyn would destroy their house, taking all toys and books off shelves, throwing legos everywhere. Just no impulse control. I was grocery shopping once when Evelyn saw a bag of goldfish on a shelf and I told her no. So the tantrum and the screaming started. I had employees asking if we were okay, checking on us as I went to a different aisle.” Corrin must have felt like she was under the microscope because Evelyn would act out while on public outings. She would draw unwanted attention to herself and those that were with her. Corrin continued with these words, “I hated shopping with her, always screaming. I’d bring toys and food to keep her occupied until those became a throwing object. I took Evelyn to a harvest festival. It was the second year that she and I went to it, this time with Dominic in tow. She freaked out. The noise of the motorcycle stunt show, the crowds, she couldn’t take it.” Corrin added, “She was like a ticking time bomb. Some days were good and others were meltdown city.” Children are generally happy campers. Certainly, there are times when there is a bit of naughty behavior but there is usually a general innocence that is present in kids. Why was Evelyn having such a hard time at a time when life should be so simple and fun? Evelyn was a complicated child for sure. Autism could very well be her diagnosis but placing her in that category would be a long process. One thing was for certain. That was that this little person was making life difficult. She was definitely worth going through the challenges but the way that she complicated everything was taxing on the emotions. Her issues not only affected her parents but they also extended to family friendships and relationships with other family members. Things would get worse. An event would take place on August the 30th of 2019 that would shake both Mike and Corrin. It would raise the level of difficulty to an even higher level. I thought that I would let Mike explain in his words as we continue with the story, “It was a Friday afternoon sometime around lunchtime. I was not very busy that day and was sitting around with some of the guys talking. Corrin called my phone, which seemed weird to me, because we always just texted each other throughout the day. Before I answered it, I half-jokingly thought to myself ‘great, something must be wrong’. Corrin was taking Evelyn to the fair to meet up with some of their friends. When I answered the phone Corrin was hysterical, and she told me Evelyn was having a seizure. They were on their way to the fair when Corrin saw Evelyn in the rear view mirror with her eyes rolled back convulsing. Neither one of us had ever dealt with anything like this before, and I didn’t know what to say, I felt helpless and so far from anywhere I could help.” How Things Can Change  Daddy - Daughter! Corrin had made her way to an open parking spot in an overflow parking lot where she had proceeded to call 911. This happened as Mike stayed with her on speaker phone. She had actually not known at that point what was taking place with her daughter as Corrin had never witnessed a seizure before. Evelyn had returned to normal and had fallen back to sleep after the seizure. How frightening this had to have been. It had resulted in a state of panic on Corrin’s part, even as she did her best to deal with the situation. An ambulance would arrive and would put little Evelyn on their bed so that she could be transported. Evelyn had been slightly awake with her face drooping and her speech slurred more than normal. One could only imagine the level of concern over this little princess of a girl. So much had happened prior to this date and now this! Mike had gotten in his car and headed south as he worked in the Seattle area. He had been on the road for about twenty minutes when he learned that Evelyn would be taken to Mary Bridge Children’s hospital. Finding out where they had taken Evelyn to at the hospital was another panic situation. This was as Corrin had followed the ambulance and arrived, placing Dominic in his stroller. Evelyn seemed to be okay as Corrin had made it to her room, she just wanted to be held. Evelyn had experienced a grand mal seizure and this is how Mike and Corrin would be introduced into the next step in their search for answers. Evelyn’s situation would stabilize and they would be discharged with no updates and no answers as to what had caused the seizure. Her discharge papers did say that a follow-up appointment with a neurologist would need to take place. Corrin stated that they would spend the next four days on edge, watching Evelyn, sleeping with her, and listening to her breathing. So much had taken place with Evelyn as her parents had tried to piece together the puzzle that surrounded their daughter’s health. It wouldn’t take an extremely long time for them to get some answers and the process would begin with a meet and greet between Evelyn and the neurologist. Mike stated that they had brought all of Evelyn’s developmental issues to the neurologist's attention at the initial meeting. He would take notice of what was shared. Perhaps he suspected that more was taking place than just a seizure disorder. Corrin gave some additional details about what was shared with the doctor, “I remember trying to describe the grand mal, trying to remember details I couldn’t, like what were her legs doing. They were crossed. I remember not being able to move them to unbuckle her. I told him about our recent therapy evaluation with their diagnosis of sensory processing disorder, and speech delays. His eyes widened with those details and her eyes moving to the right of her head.” As is usually the case, Evelyn would be started on the medication known as Keppra for controlling future seizures. Both Corrin and the neurologist felt that there was a connection between the seizure and Evelyn’s developmental issues. Mike said that he had yet to consider a worst case scenario and he just kept reassuring himself that they would get things figured out. Initially, the doctor wanted an EEG scheduled by Mike and Corrin and he asked them to contact the scheduling department. Much to their dissatisfaction, Evelyn was given an appointment for three weeks later. Once contacted, the neurologist would find this to be completely unsatisfactory and he would step in. The result would be that Evelyn was scheduled for her EEG a couple of days later on Friday. That day was September the 6th of 2019. Corrin had tried to arrange for a friend to watch Dominic but the appointment would come too quickly for that to happen. Mike would instead accompany Evelyn while Corrin remained with Dominic in his stroller outside of the room. The day would turn out to be one filled with trauma. Evelyn would need to be sleep deprived in order to undergo the EEG, so she would be kept up late and woken early. You can only imagine that a sleep deprived child would struggle during this type of a test. Many would struggle with an ample amount of sleep but even more so while being tired. As Evelyn’s father, Mike would have to do what was needed to make sure that the test could be performed. This would be under very trying circumstances. He explained, “Evelyn was tired, scared, and hysterical. She was thrashing around to get away while they tried to install the leads on her head so I had to restrain her. I pinned her down and put my forearm against her head to keep her still and she fought me with the entirety of her being. For the next thirty minutes or so we had to do this, and I will never forget the way she was looking at me. It was as if to say ‘why are you doing this to me.’”  Evelyn's eye exam. Corrin had been left outside the room with Dominic because of the requirements at the facility. She was left outside, listening to all the noise of the disturbance taking place within. Which situation was more difficult to bear? Standing firm because he had to, Mike may have felt as though he was betraying Evelyn’s trust in him. This however, was something that he had to do. The test needed to be performed and he had to focus on the “task at hand”. Evelyn would fall fast asleep almost immediately after being hooked up to the test equipment and Mike would lay next to her on the bed. A traumatic chain of events had taken place and they had brought this father and his daughter to this point. Mike explained what he was feeling, “Now that things had finally calmed down for a moment I finally had a chance to process what just happened and I immediately broke down crying. That was, and to this day still is, maybe the most traumatic moment of my life. I looked at Evelyn with all these wires hooked up to her, I was thinking about her seizure and all of her developmental issues and was hit by a ton of bricks”. Mike was left to wonder what it was that was taking place with his baby girl. He added, “I was literally living out the worst moment of my life.” To those that have read other accounts like this one, the things that had taken place may all seem just like a matter of fact. It was different for Mike and Corrin as they went through it. They had both been involved in a line of work that required calm under pressure but this was an entirely different type of a situation. This was their first born child. A most beautiful little girl that was much loved. This was even with all the issues that had occurred with her development problems. There was something terribly wrong going on. The test ended and the technician wanted to make certain that a follow-up appointment with the neurologist would get scheduled. She had seen a lot of very abnormal activity during Evelyn’s EEG and her concern was noticeable. Mike asked about the possibility of epilepsy to which the technician’s reply was yes. Her response however was such that it would lead Mike to think that something much more serious was taking place with Evelyn. He was still filled with emotion as the technician went back over everything with Corrin present. It was impossible for Mike to keep himself composed. Being a sensitive dad, the events of the day were just overwhelming for him. The follow-up appointment with the neurologist would take place on the 9th of September in 2019. The diagnosis for Evelyn at this point was simple epilepsy and this would be a treatable condition. Corrin had been thinking about how their lives would change and their activities as a family would have to be altered. No more long day drives, no amusement park rides, and no swimming. Those were some of the things that Evelyn enjoyed and Corrin feared that those kinds of things were no longer possible with a diagnosis of epilepsy. She had no idea that something much more involved was about to be revealed. Once at the appointment, the neurologist would share that Evelyn would qualify for a type of testing called Behind the Seizure. It was made available by a well known company named Invitae. This was, no doubt, made available for Evelyn because of what was seen during the EEG. It was very possible that there was more than simple epilepsy at play given the “abnormal results” of the test and Evelyn’s history during her development. Mike and Corrin would agree to the genetic testing even though this would mean that Evelyn would be subject to more discomfort. Her blood would have to be drawn after she had already been put through so much with the EEG. Mike said that they made sure to shower her with love and attention plus she received things like candy treats and time on her tablet. It would take several weeks for Mike and Corrin to receive the results of the genetic testing and in the meantime, Evelyn would undergo an MRI. This would take place on the 15th of October with a follow-up appointment happening a couple of days later. The results of that testing came back with no additional issues being revealed. Evelyn had been prescribed Keppra for control of seizures and the drug was working well enough. For Mike at least, it was life as usual with the long wait for the results of the genetic testing. He had gotten used to the belief that Evelyn was an epileptic with sensory issues and potentially, had autism. He was not prepared for what would be found out through further testing. News Not Welcomed  It would be almost two months later that Mike and Corrin would hear back from the genetics team. The results of the genetic testing were in and they would meet with the team on October the 30th of 2019. Nobody could be fully prepared for what would take place. The Jacksons were brought into a private room that had just a few chairs and a mat on the ground for kids. Mike stated that the team introduced themselves and then proceeded to ask questions about each of their family bloodlines. Some of the questions were ones that Mike found to be slightly offensive but both him and Corrin answered them nonetheless. They actually wanted to know if Mike and Corrin were related in any way. Mike said that they began mapping out a family tree and this left him confused as to what this was all about. Mike did an excellent job of explaining what the doctors suspected while stating what the testing revealed. Here is what he said to me, “… the doctor got very stern and said the results of the genetic test showed that Evelyn had mutations on her CLN2 gene. This gene is responsible for producing an enzyme that breaks down cellular waste called lipofuscin. The name of the enzyme is TPP1 (Tripeptidyl Peptidase 1). This is a lysosomal storage disorder known as Neuronal Ceroid Lipofuscinosis, more specifically CLN2 Batten disease.” The doctor also shared that there was a treatment available for CLN2, however, it was not available in the state of Washington. It was hoped that Evelyn had something like epilepsy along with sensory processing disorder prior to the meeting. These were things that the Jackson family could live with. The doctor made it very clear that what they were actually facing was something much more serious. The next step would be to do another blood test. This time, they would measure Evelyn’s TPP1 levels to make absolutely certain that she had CLN2 Batten disease. It was difficult for Mike and Corrin to fully grasp what it was that they were facing at this point. The genetics team would furnish them with a phone number for if they had any more questions, however, it wouldn’t take long for them to learn more. There in the lobby at Mary Bridge hospital Mike would Google CLN2 and he would learn things that would bring great dismay and disbelief to any parent. His search revealed that CLN2 is fatal and any child having it generally dies between the ages of six and eight. Mike looked at the symptoms of the disease. He could put a check mark in an imaginary box that was next to each one of them. All of a sudden, and sadly so, they now had what would be a root cause for all of Evelyn’s developmental issues. The puzzle that they had tried to piece together during the last twenty months may have now been solved. The thought that his daughter had this disease caused Mike to break down once again. This family of his was his reason for going to work each day. This little girl was his firstborn child and an adorable little person at that. In Mike’s own words, “Every time I left this hospital, it seemed like I was leaving a piece of myself behind.”  Beautiful in bandages! The Jacksons would once again find themselves in the lab prior to leaving the hospital. They had to have the blood draw done to determine what Evelyn’s TPP1 level was. Lost in the thought of what they may be facing, each handled the stress in their own way. Corrin explained, “…. Mike was withdrawn into himself, so as we waited what felt like years in the blood draw lab, I just read the stupid kid joke posters on the walls, chuckling to myself and trying to show Evelyn the animals. I couldn’t stop myself. I now realize that in stressful situations I start to joke and create humor in order to lighten the mood.” It would be back to the waiting game and again, Mike and Corrin tried to go about their business. They would attend a Halloween dinner on the 31st and would keep everything to themselves. Corrin shared what had taken place so far with a friend that was a nurse and she looked up Batten disease. Her nurse friend would assure her, there was no way that Evelyn could have this disease. If only that was found to be the truth. On November the 1st of 2019, on a Friday, the genetics department called to inform Corrin that Evelyn’s TPP1 level was zero. Her body was not producing the enzyme that it needed to break down the wastes in its cells. That was the culprit that had been causing the issues with this little beauty of a girl. Evelyn had CLN2 Batten disease. The only positive in the situation was perhaps the fact that she was diagnosed fairly quickly. She was diagnosed just two months after her first seizure. In the course of time, little brother Dominic would need to be tested. This was because the chances that he also could have Batten were one in four. Again there would be more waiting. The thought that Dominic had these same challenges ahead of him were too difficult to consider. Mercifully, Dominic’s results would come back showing that his TPP1 levels were normal. Many times, families will be given the news that more than one of their children has Batten disease. Mike and Corrin would be spared from that as they received good news. It had already been shared with Mike and Corrin that there was a treatment available for CLN2 Batten disease. The earlier a child is diagnosed, the better. That is because there is less damage that takes place before treatment is started. Getting Evelyn started on the treatment as quickly as possible was essential. The treatment involved a child receiving something called Enzyme Replacement Therapy. A solution named Brineura takes the place of the missing enzyme and it is received into the brain through a port that is surgically implanted in the child’s head. Evelyn would need to have this surgery done right away. As was stated however, the treatment was not yet available in Washington state. The Jacksons had to take things one step at a time though and there was a neurosurgeon available at Mary Bridge hospital that could implant the port. They would meet with the surgeon on the 4th of November and he would find that everything looked good to proceed with the procedure. The thought of their little preschool daughter having brain surgery was not something that Mike and Corrin could wrap their heads around. They just knew that the surgery was something that had to be done. It would only be a matter of a couple of days that Evelyn would be scheduled to have the procedure performed. It would have been impossible for either of Evelyn’s parents to handle things on their own and Mike would be quick to let his boss know what was taking place. In response, Mike was graciously allowed to work virtually from home as he and Corrin worked through the details of what they were facing. This all had to seem like a whirlwind of events that was taking place and the thought of having to travel for the treatments had to be mind numbing. Mike and Corrin had been told that Children’s Hospital of Orange County in California was an outstanding place for treatment. They were also told that Evelyn had been accepted there. Later in the day however, they received a call stating that CHOC had declined to accept Evelyn in as a patient. There were other places in the western United States that she could go for treatment and the genetics team was looking into other possibilities. As would be the case though, the genetics team would contact the Jacksons the next day. Evelyn would be accepted at CHOC after all, however a surgeon there would need to do the port placement surgery. Mike stated that this was disheartening because he knew there was a two week recovery time after the surgery. This would all have to happen in Southern California. The actions of parents after their child is diagnosed with CLN2 Batten can often be seen as sacrificial. They will travel any distance, move to a different state, and even change countries in order for their child to receive enzyme replacement therapy. The welfare of their child is placed above all else as a matter of importance. Mike and Corrin would also do what was necessary and that would mean traveling down to Orange County California as a family by plane. A doctor from the genetics team at CHOC would contact Corrin to go over the details of the process and answer any questions that she might have. Aside from all of the questions surrounding Evelyn’s surgery and treatment were the concerns about leaving home for three weeks. It’s not easy to just pick up and leave your home for that length of time, especially with two dogs in the house. Someone would have to care for the canine members of the family while they were gone and Evelyn’s school and therapies would have to be notified. Corrin was dreading all of this and rightfully so but they would work things out because Evelyn needed them to. It would be a big push to tie up all the loose ends before they left and it would have to happen in a hurry. It would be November the 13th of 2019 that the Jackson family would all fly down to California and arrangements had been made for all of them to stay at the Ronald McDonald house. Mike and Corrin would meet with the genetics team and the neurosurgeon as soon as possible to discuss what was about to take place. A Life Not Expected  What angels must look like! This was one of the leading teams in the nation for treating CLN2 Batten and the Jacksons would become comfortable with them immediately. The surgery to have Evelyn’s port implanted would take place a couple of days later on November the 15th. The procedure would be performed early, at five in the morning. Mike was allowed to be by Evelyn’s side as soon as she got out of surgery. He shared that she was only semi-conscious at that time but visibly in pain and not completely comfortable. Evelyn was calmed as Mike climbed into her bed and held her securely. This would help her to fall asleep and rest as she was transported to her room. Mike was a capable and athletic individual being an Ironman Triathlon competitor in his spare time. Even so, he was a sensitive guy when it came to his family. He had been shaken as Evelyn had undergone her EEG and all the subsequent testing but he had adjusted his emotions over time. Mike explains, “Seeing my baby girl like this was hard, but I was much more prepared for what was happening this time (vice the EEG). I was more accepting of the fact that at this point we do what has to be done, and I need to emotionally disconnect myself from the situation.” Evelyn would wake a couple of hours after the procedure was completed asking for her tablet. She was content, playing with it as she drifted in and out of sleep during her recovery that day. Evelyn showed that she was a resilient child. She was amazing to watch as she bounced back almost completely to normal the following day. There would now be a two week recovery period and that would be a trying time for Mike and Corrin. This was because they would have to sit and wait for Evelyn’s recovery to be completed. There were a few follow-up appointments to attend but not a lot more than that. The Jacksons were stuck at the Ronald McDonald House with two small children and the place was not exactly kid proof. This would not be a relaxing time but rather a stressful one as Evelyn and Dominic had to be watched constantly. Mike referred to the time leading up to Evelyn’s first infusion as “nerve wrecking”. There would however, be a feeling of relief for mom and dad once Evelyn’s port was accessed for the first time. Her first infusion would take place on the 1st of December in 2019. This was exactly one month following her diagnosis and three months after her first seizure. That is amazing! It was required that Evelyn stay at CHOC for observation following the first four infusions for a 24 hour period. That meant that they would have to stay an additional day after the first infusion. You can only imagine how relieved Mike and Corrin were to get on the airplane that would take them home to Washington. This was even though they knew that the trips to CHOC would have to continue. There was no way that they could continue to go as a family so Mike would accompany Evelyn for the next two months. In the meantime, the company that produces Brineura, Biomarin, would be working with Mary Bridge hospital in Washington. The program for the infusions would need to be set up so that Evelyn could be taken there instead. This meant another flight to and from Southern California for Mike and Evelyn every two weeks. This was difficult to say the least. Mike explains, “I was balancing work with getting Evelyn down to her infusions and it was soul draining. Every time we had an infusion I came back a little more dead inside. You can see pictures of me through this process as I’m smiling at first to just an exhausted mess by the end.” Not only was this wearing Mike down but the cost was draining on their finances. There had been a gofundme account that had been set up for the Jacksons at one point. They had originally been hesitant to accept this kind of help but it would turn out to be a life saver in terms of affordability. Mike and Corrin would be understandably happy and relieved once the program was set up at Mary Bridge. It would only be a thirty minute drive after that to get Evelyn to her infusions. The Jackson family would now be able to settle into the new normal that would become their life. Noticeable to the two of them was the shift of people that would be a part of their life. Friends and extended family who they thought they were close with would either disappear or communicate with them only on occasion. Eye opening to Mike and Corrin were the people who were instead willing to do anything that they could. Mike added this, “On the other end of that spectrum there are people we weren’t close to at all or hadn’t spoken to in several years who were willing to do anything they could to help.” Life would become a whirlwind of commitments once they returned from CHOC in Southern California.  A special bond! There were doctor appointments and therapy sessions plus drop-offs and pick-ups to and from schools. This is not to mention caring for a house and two pets. There was also Mike’s continuing work schedule. It was at this time that so many people would shine as they provided help to the Jackson family. Whether it was gift cards for groceries or cooked meals, the help was so appreciated. It might come from members of a mom’s group, family friends, or old Navy buddies. Everyone who cared to help stepped up and did so in a big way. The Jacksons would also discover a great source of help through social media. Mike would search for groups and individuals on Facebook within the Batten community and he would share these contacts with Corrin. Kayla Neveri, as an example, is a Batten mom with a special CLN2 princess named Breanna. She shared some difficult but necessary truths about Batten disease with Corrin while they chatted on-line. There were so many that responded in the private Batten Family group when Corrin shared her initial frustrations after Evelyn’s diagnosis. Knowing that you are not alone as a family begins this journey …. it is invaluable to surviving the initial shock that comes with finding out the truth. Suzette James is a mom whose beautiful daughter Maya battles atypical CLN2 Batten. They are a southern California family who was able to take the Jacksons under their wings while they were at CHOC. That help was greatly appreciated. Mike would also create a FB page called Evelyn’s Battle with Batten. This, in order to keep friends and family informed about everything. Evelyn would receive a new neurologist right after her diagnosis of Batten disease. This doctor was to oversee Evelyn’s Batten case and she would be the lead in overseeing Evelyn’s infusions. Mike and Corrin would be a little apprehensive over this at first. That is because she had graduated from medical school not that long before taking over Evelyn’s case. What the Jacksons would soon find out though is that Evelyn’s new neurologist was, in Mike’s own words, very responsive and open to integrating new ideas into Evelyn’s care plan. Along the same lines, she listens to the Jacksons' concerns and she works well with the other members of Evelyn’s care team. I am certain that Mike and Corrin’s love for Evelyn was clearly seen by all of the medical staff at Mary Bridge. Corrin’s love for her daughter would also be demonstrated through her actions. This, as she wanted to do her very best at getting her daughter what she needed in the way of help. Treating Evelyn’s Batten disease symptoms was of the highest priority but she also needed help with her behavioral issues. Corrin was completely in when it came to researching and finding therapies that would help Evelyn to improve in this area. In addition to Batten disease, the neurologist would be able to diagnose Evelyn with autism and also ADHD. This would lead to the opportunity to have Evelyn involved in something called Applied Behavioral Analysis Therapy. There was much that would need to take place for Evelyn to qualify. That would include an in-home meeting with the ABA lead and her assistant. Help for Evelyn  Living life together! They wanted to talk in person with Corrin and meet Evelyn at the same time. This was to help evaluate Evelyn’s need for the program. Were her behaviors serious enough to warrant involvement in ABA? Both ABA staffers would find out quickly enough that they in fact were. Corrin described the scene during the meeting, “Oh man, did Evelyn let the true Evelyn out. Throwing, screaming, and hitting Dominic and the dogs. She was climbing on chairs, doing things I’ve never seen her do to get my attention away from these ladies. The lead could see the look of defeat on my face. The tired, given up, no life left in my face look.” Evelyn would be accepted into the program and would start attending it full-time in February of 2020. As would be expected, Evelyn would get off to a rough start but they would see some gains in the near future. She would stay involved with ABA for 18 months and many of her issues would be stopped or minimized. In addition, Evelyn would continue to go to school on-line during Covid and began to go to school in person in September of 2021. Corrin would also seek to have Evelyn involved in what is called hippotherapy. This involves the use of horses as a form of therapy. In this the horses movements are purposely manipulated in order to engage the child’s sensory, neuromotor, and cognitive systems. You can only imagine that this would be a very useful form of therapy for a child battling Batten disease. Not only is this a great thing for Evelyn to be involved in but it also feels like a normal type of activity to Corrin as she grew up riding horses herself. It’s important to keep a Batten child’s life as normal as one can. There is a normal type of an experience that a young couple would expect when they set out to have a family together. Certainly, there will always be challenges and occasional hardships that has to be dealt with. We always take difficult circumstances one event at a time. We deal with each struggle and then we move on. For the most part as parents, we focus on the things that are expected. There are life events and milestones in each of our children’s lives that we look forward to. Seeing our kids reaching goals and finding success in life are what we look forward to. We normally experience all of this while finding satisfaction in our work and in the pursuit of other interests. Together as a family, we experience life events such as graduations at the different levels, weddings, and other family gatherings. Those are the experiences that we think about when we first start out. Life is different when it involves caring for someone with special needs. The demands are different and they seem never ending. Oftentimes in regards to children with special needs, parents are thrust into a care-giving role that they did not expect. They had expected to go through a normal cycle of life as a parent but things soon change with a diagnosis that brings demands not seen. It is normal these days for a mom to carry on with a career once her children reach the age for that to be possible. Being placed into a caregiver role without a choice is something that Corrin often struggles with. Her adult life had begun in a career that carried with it a lot of responsibility. She had the intellect and the desire to continue with a career of her own once the kids were of age for that to happen. Life is different for her now. Corrin speaks to this, “I wanted to go back to college once the kids were both in school but what’s the point now if I can never apply the degree to something. Like all Batten moms, my role revolves around Evelyn. Medicine required in the morning, never can I sleep in unless it’s a weekend and Mike is up early giving it.” The regiment for giving medications to a Batten child would be mind blowing to most and that need is always changing. There are also all of the other demands. Getting Evelyn to therapies and doctors appointments plus making constant phone calls related to her ever expanding needs. There are stresses related to her food intake and physical activities that she needs to be involved in for flexibility and muscle health. There are IEP meetings and staying on top of the goals that are set. The supplies that need to be carried at Corrin’s side or in her vehicle are also changing and expanding. Things like rescue meds for seizures and gtube supplies. Corrin always has to stay within a short distance of Evelyn’s school in case something goes wrong. This is just a partial list of what is required but I think you have the idea. Add to this all of the normal responsibilities of a mom caring for two small children. Think about all of this for a moment. There is also the responsibility of keeping on top of new research that is taking place and helping to make sure that memories are captured for a lifetime.  Something special! Corrin adds to what has already been stated, “As a mom you know that all of the baby toddler things you have to help your child with they will start to do on their own, but not a Batten kid. They are basically stuck in toddler-hood forever, always needing you. Somedays I hate it, hate this life, then the guilt sets in because she didn’t choose to have mutated genes from her parents to make her life this helpless. I’m in a constant roller coaster of hating our lives, hating Batten disease and what’s to come.” Corrin does a great job of keeping things real when sharing what her feelings are. Make no mistake concerning Corrin’s love for her daughter though. She would give up her own life for Evelyn’s if required but it hasn’t been easy. There were times that she hated Evelyn’s behaviors and the way that they as a family were perceived by other people. This is because of what had occurred at places like the playground and grocery store. Brother Dominic is now of the age that the normal sibling rivalry between him and Evelyn is occurring. Mix into that squealing kids and howling dogs. Sensory overload can be a factor in Corrin’s day and life can be overwhelming at times. She always has to be on the watch for seizures with Evelyn. Driving in the car with Evelyn seated in the back and in her rear view mirror brings flashbacks of the day that she experienced her first grand mal seizure. There are other times that she sees the real thing taking place, only this time she is witnessing a focal or absence seizure. This would leave any mom feeling on edge. To Mike, Evelyn’s disease is not a small deal. Rather, it is something that consumes his thinking. He says as much with this, “The knowledge of Evelyn’s disease is always weighing on me …. ALWAYS. I think about it every minute of every day. I have learned to live with it, but it’s like a weight, a sadness that sits heavy on my chest. It’s always there.” There are certain difficulties that come as a result of having a child with special needs. One of the challenges that comes with Evelyn is that she can never be left alone but rather, she needs constant supervision. Either Mike or Corrin have to keep an eye on her at all times. Mike added, “She’s like Mr. Magoo, constantly wandering around with no concept of things around her that could hurt her. Things like stairs for example. We very rarely have the ability to go out just me and Corrin because people don’t want to babysit Evelyn.” Mike understands other people’s feelings concerning things like handling Evelyn’s seizures but it’s still challenging mentally. It is rare that Mike and Corrin are able to go out together on their own. Just like Corrin, and as people would expect, Mike had never heard of Batten disease before Evelyn’s diagnosis. Mike uses the term “soul-crushing” to describe his response as he read about Batten disease for the first time. It still is that to this day. Look at Evelyn and you will see a most beautiful little girl. She is the object of her father’s love and adoration. I’ve said it so often in the past but it’s worth repeating. This kind of thing should not happen to children. They should be left to experience joy and innocent fun as life’s lessons are learned. The New Normal  A mother's love! Extraordinary. Mike thinks back to the time before Evelyn was born. He and Corrin had been out to dinner one night after they had moved to upstate New York. He had observed a little girl that was having a conversion with her mom and dad while at their table. Mike listened in and found the little girl to be just adorable. He had to have felt fortunate to have a baby girl when Evelyn was born. Now he and Corrin would have similar opportunities with their daughter. Their situation however, would turn out to be very different. They would find themselves in a rare set of circumstances that are not experienced by many. There have been a lot of difficulties as they have raised Evelyn, who is now six. Heartache is felt over what they face as a family but there is a love for Evelyn that is undying. There is nothing that they wouldn’t do to help their daughter experience life to the fullest. Mike feels that his experience with Evelyn has battle hardened him. He is better now at putting his feelings to the side while doing what is necessary for his children. He is also more empathetic towards other people. Mike knows that there could be other people with a similar weight on their shoulders as he comes in contact with others. You never know what another person may be experiencing. There are so many questions that Mike has concerning Evelyn’s situation. She is receiving an artificial enzyme that is replacing the one that is missing. Mike wonders, could Evelyn not develop normally around the damage that has already taken place? Mike wants to be optimistic and there are reasons to remain that way. He knows that they have something as a CLN2 family that families of kids with other NCLs do not have. That is a form of treatment. Evelyn is thriving in many respects but there are questions regarding her future and overall health that still linger. Evelyn did start treatment with Brineura very early compared to other children and gene replacement therapy has shown promise for arriving soon. If successful, this could be a real game changer and Evelyn would seem to be a prime candidate for gene replacement. Corrin struggles as she spends each of her days by Evelyn’s side. She sees her daughter’s struggles and the regression of skills, even if it is taking place slowly. She knows what she is feeling about what the eventual outcome might be if gene therapy, or a cure in a different form, were not to become a reality. Both Mike and Corrin put one foot in front of the other, making sure that Evelyn is given every opportunity to enjoy her life. Together, they are living life to the fullest as a family. They go on as many adventures as they can while doing things that Evelyn enjoys. Mike and Corrin also try to make life as normal as they can for their kids, especially in the case of Dominic. They try to keep him in the spotlight as much as possible. It’s not hard to see that he is a special little man. Having a family is what our hopes and dreams for the future revolve around and it is so painful when all of that is disrupted by something like Batten disease. Families do adjust to a different type of normal because they have no other choice. Hope in the form of gene replacement was given to Mike and Corrin as soon as Evelyn was diagnosed. A company named Regenxbio had made tremendous progress in this area and gene replacement was seen to be on the horizon. This is pending approval by the FDA. That was supposed to be in 2019 and then a letter came out extending things another year. It is now 2022 and gene therapy for CLN2 Batten has yet to begin. My heart breaks for these families because the promise gave them a lot of hope. Whatever the reason, Covid-19 or otherwise, greater emphasis needs to be placed on getting this therapy approved. CLN2 Batten is one of the more common variants of Batten disease. Although it is rare in terms of the number of cases, it still affects a lot of children in total. For Mike, this is his beloved little girl that we are talking about. The situation with this form of therapy is urgent for Mike and Corrin. If only everyone felt that way. Mike shares his feelings, “The FDA says ‘its not like the sky is falling’ in response to us wanting a gene therapy but having Brineura available. And yet, no one can tell me what to expect for our daughter's future. It's unsettling. I picture our best case scenario that Evelyn can one day function like any normal child with autism…” The best case scenario that Mike mentioned could become reality. What if gene replacement became available tomorrow? Evelyn is at this point healthy overall because she was diagnosed so early. There are other children that would also meet the requirements of the program.  Certainly, a little beauty and a warrior. Mike refuses to give in to any negative thinking concerning the outcome of Evelyn’s life. They are in the fight and good things can happen. He instead tries to remain positive while helping his daughter to fight each day. Corrin as well, will not give up. She doesn’t sit around waiting for Regenxbio to gain approval from the FDA so that the trial can begin. Rather, she researches and finds groups and companies that she can reach out to, emailing those who she feels will respond. Staying active and involved helps Corrin to better deal with the stress of life as a Batten mom. It’s a life that not many can understand because things are experienced that most will never see in a lifetime. I think back to the time that I first started to do these stories. I would think about these kids and their families at the most random times. While at places like gas stations and while sitting at traffic lights. I would have to catch myself as my emotions would start to get the best of me. Other times, it would happen as I would write. Just like I am now. It would be because I structured a sentence a certain way or expressed a thought in a certain manner. This would often bring me to tears and it still does at times. The plight of kids that battle rare diseases like Batten often stirs the emotions. This is because seeing children fight a battle like Batten can be heartbreaking to those who pay attention.
I use words like special and amazing to describe these kids who are so strong and resilient. They go through so much and always bounce back from the adversity that they face. That is for as long as they are able to. I often ask the question, is it us or is it them? Is it the feelings that they produce in us or is it that there is something truly special about the kids that battle? I think that both answers have to be true. This is Mike and Corrin’s first born child. A love that is profound and undying has been revealed and the bond being created will only grow with time. It’s one that can never be broken. Life is different than what was expected but there are many days that sweet memories are being made in the midst of the difficulty. For those that advocate for these children and those involved in research for a cure …. Please don’t get distracted. There is so much that is taking place in the world but these children still deserve our greatest attention. They are so deserving of the help that we can give them and every bit of effort needs to be given. Don’t give up! I am the father of a most wonderful son with special needs and the love that I have for him has lent itself to those who battle. I have always had the greatest admiration and respect for the the families of kids who are warriors unaware. Working with the parents in writing these stories is something that I will always consider to be an honor and a privilege. Thank you Mike and Corrin, and by the way, thank you both for your service. Each of you are exceptional and Evelyn is a little jewel. I appreciate everyone taking the time to read this family’s story. ~Greg Lopez~ Blogger and Advocate  My favorite! “When that geneticist came into the room, she grabbed her stool, sat down and rolled right up to me as she placed her hands on my knees, all while maintaining eye contact. Bailey had Batten disease and she was so sorry to have to deliver this news.” ~Alicia Morse~ Bailey’s Mom and Advocate Two people meet and fall in love. It's a theme that runs through most all of the stories that I have written. Isn’t it true … this is much of what life is all about? Two people falling in love and having a family together. Having children is the natural thing to do and so many of us look forward to all of the events that come with this. There are not many of us that would focus on the possible struggles that may occur. We just want to experience the joy of being part of a family and we accept that struggles are part of the process. Every family will have a bit of trouble along the way. Cuts and scrapes, broken bones, these are some of the things that one would expect. How about a little rebellious behavior during adolescence? Sometimes, more will come along than would be expected but hopefully, the things that are faced together can be overcome. The focus is, or at least it should be, raising children that you can take pride in and making memories together as the bond developed grows over time. All of the events that are looked forward to are experienced as our plans come to fruition. The things that we strive to teach our kids end up serving them well in life. When that happens, a person feels a sense of accomplishment and pride as a parent. A lot of people will have a number in mind when thinking about the size of family they desire. For some, an only child sounds good. For others two or three is a good number. Some have no number in mind. They just want as large of a family as they can handle. I’ve long since thought that two children is a good number to have but that opinion was developed after we had three boys of our own (My parents also had three boys of which I am the middle son). We were challenged by having our attention divided three separate ways and that was especially true because our third son was born with special needs. I have some observations concerning the pecking order that exists within the family hierarchy. Actually, more so with the status that a sibling has with his or her given position within the family. The oldest sibling almost always has a position of honor and is often looked up to by the others. They are always the first to get privileges that the others are too young for and major achievements come to them before they do with their younger brothers and sisters. Everyone has their place in the home but if you will allow me, I would like to move ahead to the baby of the family. This position in the family home is also a special one. The baby usually has the protection of the older siblings and can often be much loved by his or her brothers or sisters. Sometimes though, a favored status with the baby of the family can bring a bit of jealousy. Often, the baby sibling is with mom and dad for longer and a deeper bond may develop. There is more that can be said but I think that you have the idea. What if, like in our case, the baby of the family is born with special needs?  There will already be a type of status placed with that child because of the position he or she was born into. But in addition, there will be added emphasis placed on the attention they receive because of the special needs. This may take attention away from the others and challenges could arise out of that situation. What about mom and dad and the way that their lives are changed by all of this? Being a parent of someone with special needs brings with it special challenges. A life that you once expected will be disrupted. Plans that you once had are now mixed with added responsibilities. An increased amount of care is needed and the number of doctors appointments required has grown. I can speak from experience and know from having our son Benjamin. Being the parent of someone with special needs disrupts what your expectations were and a parent has to adjust to lifestyle changes that were not expected. So often though, that person with special needs becomes the object of adoration for those who are in the child's life. Any person born with special needs requires help beyond the norm. This is because of a varying inability to grow into self-sufficiency but there is a situation that is even more difficult. It is one that normally would be completely unexpected. That is when a child is born with a disease that is rare and fatal. Whereas everything begins normally for a family in this situation, things begin to change. Symptoms that were previously unknown and which were not thought about begin to appear. All of a sudden, a puzzle that needs to be solved is placed before the other members of the family, primarily, mom and dad. You have a child with special circumstances but you have no idea what it is that is taking place. What is it that is causing the issues that are occurring? Vision problems or maybe behavioral issues are taking place. In some cases, something more startling, like seizures. For some, solving the puzzle may take a lot of time and for others, the missing pieces may fall into place more quickly. False diagnoses may come in the process and frustration with medical professionals may occur. Eventually, the pieces fall into place and the answer is found. The news brings with it shock and great dismay. Your child has a disease that you previously knew nothing about and your world is turned completely upside down. This condition is fatal and it has no cure. The process of coming to terms with what you are dealing with as a parent, and as a family, is a long ordeal. Things will change. A person will go from complete despondency to discovering the will to help their child battle, all while the heartache continues. A determined type of love will build and a bond will grow that is stronger than any other. There is no silver lining in a situation such as this but what is seen by those of us that look on from a distance is obvious. The type of love that is shown in a situation such as this is a love that is like none other. A love mixed with heartache produces a love that is profound and undying. These are the details that I try to bring out in each story that I write and I hope to do the same in this next story. Let’s get started. A Life Together  At the beginning. Stories about rare families can take place anywhere, both here in America and in places beyond. This particular one begins in a town in the state of Massachusetts named Middleboro. Middleboro is a small to medium sized city that has roots in early American history. This with it’s presence being in the Northeastern portion of the United States. This particular story would begin to take shape when a teenage girl named Alicia Bullard moved to Middleboro with her family. It wouldn’t be long after moving into her neighborhood in the late 80s that Alicia would meet and make friends with a young man named Chris Morse. The friendship would quickly become much more than friendship as they would soon after begin dating, so to speak. This was when Chris was 16 and Alicia was 14 years of age. They both felt even then that their individual lives would include each other. The young couple became inseparable and when Alicia stepped out on her own, it was with Chris by her side. One might say that Chris and Alicia were meant for each other and indeed they were. The couple would be married in the year 1998 and soon after, they would become parents for the first time. Much to Chris and Alicia’s joy and wonder was the moment that they looked on together at their infant daughter. They would name her Ashleigh Nicole. She was so perfect in every way and this little girl was their very own. Could things have been more perfect than they were at that time? A young couple in love who were both now in love with this little person. They had brought their infant daughter into this world together. What it must have been like at this time. They had their whole lives before them and now, that life included little Ashleigh. There was so much in store for them, both being at work and with time spent at play. Wherever they would wind up as a family, they would be together. Whether it was the sandy coastlines or the promise of better opportunities that drew Chris and Alicia to Florida, they would end up moving there in 2001. There were signs that indicated that Alicia’s long time job in Middleboro was about to end and their dwelling place was about to go through renovations as well. The cost of living and increasing their ability to own a home by moving to Florida was also a draw for them. All of these things considered, this would be a great move for them. Little Ashleigh had not yet begun to go to school and the time was just right. This family of three would settle in and would continue to live life together. Ashleigh would grow and do so well. She was everything that Chris and Alicia would want in a child but there was room for more, kids that is. The couple would want to increase the size of their family and that is what they would do. It had been a while since they experienced the joy of having a newborn in the house and it would be the year of 2007 when they would experience this once again. All would go well as Alicia carried this child and they would welcome him into the family with much joy. That’s right, this child was a baby boy and the Morse family now totaled four people. Mom and dad had a boy and a girl and they were so proud and happy. They would name their newborn son Dylan Richard. Just like his big sister had years previous, Dylan was born with all of his fingers and toes and he was the perfect little man to Chris and Alicia. Things were really taking shape for this family of now, four people and everything was just as it should be. The Morse family would welcome baby Dylan into their home and life would continue on. Ashleigh was well on her way in her growth and development and now she was joined by her baby brother. Chris and Alicia were well established in their work and they were all really enjoying life in Florida. Dylan would continue to grow into a charming little man and just as he was beginning to take flight, his mom would be expecting once again. Child number three would soon be on the way and just as had been the case two times before, Alicia’s pregnancy would proceed without major complications. She would carry this child through to the Fall months and into December. Baby number three would be born on December the 4th of 2009 in Longwood, Florida. Alicia stated that she was in labor with this next child for a while. Things were slow to develop and it would involve a lot of walking around to help things along. The time would eventually come that Alicia would deliver her next baby and this one would be a beautiful baby girl. Just like her brother and big sister were at the time they were born, this little bundle was perfect in every way. They would give this baby the most perfect name, that being Bailey Rae. Alicia had experienced the joy of childbirth twice before and the love that she had for her first two children would now be extended to baby number three. The feeling that she had as she held Bailey for the first time was simple. It was that their family was complete and in fact, it was. For the Morse family, three kids was the perfect number. Each one was special and had a special place in this family of five people. First there was Ashleigh and then, Dylan. Now there was Bailey, the baby of the family and that she would always be. Ashleigh had the big sister role to fill of course. No one knew at this time what an important role that would one day be. Dylan was now the middle kid, just like this writer is. So young when his little sister was born, he had all the potential in the world and a lifetime in front of him. Baby Bailey would come home to her family and she would grow and thrive in her beginning months of life. Maybe she was one that would be looked after and protected by the others. Bailey Rae was the baby of the family. Maybe she would be favored a little bit. Perhaps a little spoiled but still adored by everyone, even if it wasn’t always admitted. Whatever the case might be, life as a complete family was just beginning and there was so much to look forward to. There were many life events for all three children ahead and so many would be enjoyed together. It all started with two teenagers from a town named Middleboro. They met and fell in love and their story would now continue as the mom and dad of three. Alicia would relay a fact to me concerning Bailey’s health during her first nine months of life. While there had been some minor health concerns with her older brother and sister during their early months, there would not be with Bailey. There were no concerns with her whatsoever at that time. Bailey would move right along, meeting all of her milestones of development, just as one would expect. Bailey would begin to walk and talk within the range of time that one would expect her to and she was a bright little girl. Life continued on as a family and there were no big concerns with child number three. That though, doesn’t mean that there weren’t some challenges along the way. As Bailey grew, there would be much involved when it came to this little person. I think that this writer was on to something when he placed emphasis on the fact that Bailey was the youngest of the three children in the house. Alicia would seem to agree with me, doing so as she said the following, “Bailey truly was her own person. The baby of the family, she definitely played the part!” It seems that there is often a special attachment between the baby of the family and his or her mother. That is even if it is not intended to favor one child over the another. Alicia said that Bailey was “very attached” to her. The attachment was so strong that Bailey was bothered when Alicia showed affection to others. Mom belonged to Bailey and that’s all there was to it! Alicia would go on to say that Bailey had two very different sides to her. The Complicated Kiddo  All three together. There was the first side and that was Bailey the loving child, showering people with love and compliments. This in itself would be a wonderful trait to see in any child but the problem was Bailey’s lack of discretion. Alicia said that Bailey’s show of affection would include strangers. That would turn out to be a cause for concern as Bailey got older. This can be a dangerous world that we live in these days and you have to be careful who you reach out to. Bailey, being an outgoing child, did not understand this. Alicia stated that Bailey was too willing to talk to strangers. She explains further, “No matter how we tried to ‘scare’ her of the risks, it wouldn’t stop her from going up to someone and giving them a hug.” That was the first side of Bailey as a small person. Alicia would go on to explain the other side of her daughter. Knowing Bailey’s plight at the present time, Alicia feels a bit of guilt over sharing the negative characteristics of Bailey’s other side. It wasn’t so pleasant as she was growing up. Even with this, Alicia feels that it is necessary to share everything in order to tell the entire story. We have already mentioned the fact that Bailey was jealous of mom showing affection to others but there were other things. Alicia stated that Bailey was easily “set off” if she didn’t like something. Chris and Alicia’s other two children were mild mannered and more under control of their emotions than Bailey. Was this just a difference in personality or was there more going on with her? Alicia said that she had always chalked it up to Bailey being the baby of the family. Bailey was one of a kind in this household. She didn’t bond well with her brother and sister and was easily offended. On top of this, she had a bit of a mean streak to her. Alicia would go on to say that Bailey was defiant and sneaky at times. Was this all normal behavior for the baby of the family or was there something more to it? What was responsible? Were these just behavioral issues only? Whatever the case may have been, the Morse family home was not always a happy one because of the drama that Bailey would bring to them. Bailey would not grow out of this and her parents would decide to dig a little deeper into the cause of what was taking place. Chris and Alicia would one day find out that this was all symptomatic of something beyond just poor behavior. The search for an answer was just beginning. All that was being seen in Bailey was taking place as she was growing up. Bailey would do fine with her peers in school and she was even on point academically. The problems with her behavior were really taking place at home. Life continued this way and Bailey would progress in her early education. What would take place a little later was concern over issues with her eyesight. This would eventually lead the Morse family down a path that was life changing for everyone as this was just the beginning of things.  Family fun! It would all begin in the summer of 2018 as Bailey was seen for a routine yearly physical. She had never mentioned anything about problems with her eyesight but would be referred to an eye doctor during the physical. Bailey would end up seeing three different eye doctors during the summer and none of them would see a lot wrong with her eyesight. One of them did say that Bailey may be slightly nearsighted and one of the doctors would give Bailey a low level prescription for glasses. The glasses would do little in the way of help. It was impossible to get a straight answer from Bailey as far as her eyesight was concerned. This according to her mom because at this point, dishonesty was one of Bailey’s character traits. Even though Bailey would not talk about her vision, her behaviors were very telling. Alicia stated that Bailey was walking and running into things and tripping easily. There were other signs as well that her vision was not the best. The issue with her eyesight would begin to take place over that summer, between the 2nd and 3rd grade, and the whole thing seemed to occur all of a sudden. The only thing mentioned previous to summer break by Bailey’s teacher was that she had been helping her with math in the mornings. There was nothing said that would indicate that Bailey was struggling to see things at school. At the same time, Bailey’s attitude at home and her ability to get along with her family continued to be a challenge. One might wonder why something like this was taking place at such an early age, pre-adolescent. There would be more going on with Bailey’s medical issues as time continued and a battle would soon begin with doctors and the insurance company. The fight to get answers for what was taking place with Bailey would eventually wear on Alicia to the point that it affected her health. You see, Alicia was involved in her own battle with Crohn’s disease. As the issues with Bailey began to grow in severity, so would the issues with Alicia’s own health. Sometimes when it rains, it pours. There was much more to Bailey’s situation than what has already been stated. You would think that getting your child in to see a specialist such as an ophthalmologist would be no problem but Alicia was having problems getting this approved. This was because regular eye doctors were saying that there was nothing all that wrong with Bailey’s vision. Alicia would be persistent because she knew that there was more to Bailey’s situation than what was noted by the other doctors. She would eventually get the referral that she sought however, more would take place before that happened. It was during the time that Alicia was dealing with the various eye doctors that she had begun to consider other possibilities. That is concerning Bailey’s health issues. Perhaps what was taking place had something to do with a problem in Bailey’s brain. One incident had taken place in June of 2018 happened as Bailey ran into a metal pole while at daycare. Alicia was concerned at the time that a concussion may have been sustained. She had wanted imaging of Bailey’s brain done at the time she was being treated for the injury but this would not happen. Instead, the staff treating Bailey would simply glue her wound shut and send Bailey on her way. With everything that Alicia was seeing she would seek to get Bailey in to see a neurologist. This would soon lead to more frustration and still, there would be difficulty in getting Bailey in to see an ophthalmologist. Chris and Alicia were becoming more desperate in their search for answers and something had to be done. Finally, and after other extra appointments with the pediatrician, Alicia would be given the referral that she sought for a neurologist. The referral to the ophthalmologist would soon be granted also but they would not schedule Bailey for an appointment. This was because the people at the ophthalmology office first wanted to see the results of any tests run by the neurologist. Is there any way in which we can understand what it is like to deal with a situation such as this? A lot of parents that have a child with rare circumstances will go through something Alicia had experienced. There will be many doctor appointments and phone calls. So much time and energy will be expended in the pursuit of getting answers. A Daughter's Struggle  Bailey is beautiful. Then and now! It will leave a person exasperated and confused. Well meaning people in the medical profession can become sources of frustration without meaning to be. Dealing with a bedside manner that is less than comforting can leave a person feeling hopeless. To some, a patient could just be another appointment on the schedule. There would soon be another development in Bailey’s situation that would be alarming and a great source of concern. That would have to do with an apparent decline in her cognitive abilities. Bailey had started the 3rd grade in the fall of 2018. Just a couple of weeks into the new yew school year, people started to notice that Bailey was struggling. Much to Alicia’s irritation, the school nurse suggested that Bailey be seen by an eye doctor. At this point, Alicia was keenly aware that more was going on with her daughter than just problems with her eyesight. This, knowing that Bailey’s eyesight problems were part of a larger issue. What would become very alarming to Alicia came as a result of academic testing that Bailey would undergo at school. The testing was initiated because Bailey was starting to slip in her grades and she was having trouble with homework. Bailey’s parents would receive the results of the testing six weeks later and the results were cause for serious concern. Six months prior to this time, Bailey had been testing at the 2nd grade level and she was on track academically. Now, she was testing at the level that you would expect for a child in Kindergarten. Bailey had regressed significantly. What was it that was taking place with the baby of this family? The neurology appointment would take place and testing would soon be performed. The neurologist would have an EEG and an MRI done but the results would not lead to any answers. Both test results revealed no negative findings. In other words, everything appeared to be just fine with Bailey’s brain. This led the staff at the neurologist office to believe that Bailey’s issues could be purely behavioral or related only to the issues with her vision. The answer was not as simple as this and Alicia knew it. This assumption would leave her only further frustrated. This was all taking place in October and November as the year 2018 was nearing the end. Alicia recalled telling the neurologist about an incident in which Bailey was bringing her empty popcorn bowl to the kitchen counter. Her mom had been busy loading the dishwasher and failing to see what was in front of her, Bailey fell across the bottom rack of dishes. It was really fortunate that Alicia had turned all of the knives with the blade end down into the rack. Had she not, Bailey could have been seriously hurt. The doctor's response was only that Alicia should be sure to keep the dishwasher door closed. Perhaps the doctor was missing the entire point. Alicia would end up grabbing Bailey and storming out of the office. She didn’t know who else to turn to for answers.  Nice looking family for sure! With the results of the neurological testing in place, Bailey could now be seen by the ophthalmologist and this is where the search for answers would begin to turn in a more positive direction. It would be Christmas eve of 2018 that Bailey would finally have her eyes examined by an ophthalmologist. The holiday had to have been one that was filled with concern and distraction but this is oftentimes the case. This type of an eye doctor would be able to do a more thorough examination and he thought that he was seeing something on at least one of Bailey’s retinas. For this reason, the ophthalmologist wanted to refer Bailey to a retina specialist. This meant that Alicia would have to go through another approval process and this would lead to further difficulty. One situation would arise in which a local retina specialist would want to refer Bailey to a well known facility in Miami. This was because he suspected that Bailey had a condition called Retinitis Pigmentosa. The doctor wasn’t 100% sure and that was the reason for the referral. The insurance company would again, decide to deny this and would fail to inform the family of the denial. This happened even as Alicia was spending a lot of time on her breaks and lunches trying to set up the appointment. While doing so, she was sitting on hold while being unaware of the decision to decline. Ultimately, and after more frustration, the approval would come from the insurance company and Bailey would be seen by a specialist in Jacksonville. Over the course of time as the family was searching for an answer, there would be other troubles with doctors and the insurance company. Oftentimes, doctors wouldn’t be able to fit Bailey into their schedule for several months and Alicia would have to restart her search for a specialist. Such is often the life of a parent seeking this kind of help for their child. The rest of a person’s life does not stand still either while all of this takes place. The specialist in Jacksonville would confirm the diagnosis of Retinitis Pigmentosa. What does RP involve? This is a rare, inherited degenerative eye disease that causes severe vision impairment and the symptoms often begin in childhood. They include decreased vision at night or in low light and loss of side vision (tunnel vision). It was understandable that Bailey would be given this diagnosis given the symptoms that everyone had seen. Neither Chris nor Alicia knew of this being in their family history but that didn’t mean that it hadn’t existed. There is no cure for Retinitis Pigmentosa but medications could help treat the complications of this disease. This would be Bailey’s initial diagnosis and it was something that the Morse family could live with. Chris and Alicia were assured that Bailey’s life could go on for up to decades before vision loss was severe. She could adapt and learn to live with this disability. Having what the couple thought to be the answer must have given them hope for Bailey and their future together. Everybody could adapt to this situation and could be at Bailey’s side as she learned to adapt herself to the challenges associated with having RP. Life would go on as the next six months passed by. Bailey would have more appointments and a significant change to the family’s outlook would occur as she was seen again by the retina specialist. This would take place seven months after her diagnosis. The doctor found that Bailey was now legally blind and he was concerned with how fast she was losing her vision. This would normally not be happening with RP. The doctor thought that there might be something else taking place with Bailey. This was the first time that anyone in the Morse family had heard of something named Batten disease. Was this the actual source of the decline in Bailey’s eyesight? The retina specialist wanted genetic testing performed right away in order to rule out Batten disease as the cause. Of course, Bailey’s family would be worried over something like this, the doctor however would reassure them. He felt that the chances of Batten being the cause of her visual decline were slim. After all, she wasn’t showing any other symptoms like seizures or random falling. This was just a precaution but one that was necessary for making sure. Just like was the case with the retina specialist, the geneticist was also located two hours away in Jacksonville. They would be there to submit bloodwork from Bailey but also from Chris and Alicia. So it was on December the 23rd of 2019 that the family would make the trip for the bloodwork to be done. The hope was of course that the results would come back negative. Very concerning was the fact that they may have to wait 4-6 months to get the results back. This would leave a lot of time to wonder and learn more about the horrific details of Batten disease. An Answer Not Wanted  very special family! It wouldn’t take as long as they had been told it might to receive the results. While Chris and Alicia were waiting, and one month previous to gaining the results, Bailey’s teachers reported the fact that they thought she was experiencing seizures. They were silent, or absence seizures as they are often called. One might say that receiving a call in February of the next year was merciful in a sense but maybe that fact could be argued. The results of the testing had come back just a couple of months after the lab work was done and the way that the news was presented left Bailey’s parents lacking confidence for a good result. First of all, they were advised that they didn’t need to bring Bailey with them. The genetics office also wanted to make sure that Chris would be present as well and they got the couple into see the doctor the very next day. The trip to Jacksonville must have left the two of them feeling anxious. Again, the doctor's office was two hours away. What would this couple face together with Bailey in the future? There was so much yet to come and everything hinged on the news that they would soon receive. There have been times that parents have shared the fact that they had received a diagnosis through an impersonal phone call or worse, an email. That would not be the case for the Morses as the doctor entered the room. This doctor was full of compassion and concern over the news that she would deliver. The geneticist sat and got down to Alicia’s level. Making eye contact, she expressed the fact that she was so sorry to have to deliver the news. Bailey did in fact have Batten disease. She would be diagnosed as having the CLN1 variant of Batten. The day that she was diagnosed was February the 4th of 2020. Alicia said that this date was exactly one year after Bailey had been said to have Retinitis Pigmentosa. All of a sudden everything had changed. Bailey no longer had a disease affecting only her vision but was now diagnosed as having a disease that is fatal. She was now a rare disease warrior and she and her family were on a journey together. So many things were explained with the diagnosis. People had been pointing to Bailey’s vision or thought that perhaps there were behavioral issues at play. Finally, there was understanding. Not only did Bailey’s mom and dad now know the reason but so did the people in the medical community that were associated with Bailey’s care. Many had never heard of Batten but now, their eyes were open and they were able to see how this rare disease had affected Bailey. There had been CT Scans, MRI’s, and EEGs performed but none of those tests could bring the truth to light. Bailey’s complete diagnosis would come through the actions of an alert doctor who knew genetic testing was necessary. It was needed in order to gain the answer that the family sought. Even if the outcome was not what was desired. The truth had to be known. Shock and utter dismay would follow. Alicia’s emotions were at an extreme high and the tears just flowed at times. Who could not understand how this would be so? Regardless of the challenges that had come with Bailey, she was still her mama's baby and she was so loved. How was it possible that something like this was taking place? How could her baby girl have a fatal disease for which there was no cure? There were so many questions regarding why this was happening to them as a family. They finally had the answer as to why things were different with Bailey but the answer was not one that they had wanted to receive. Bailey had been different from her older siblings while she was growing up and she hadn’t bonded well with them. There were apparent behavior differences and she was difficult to deal with at home. I am sure that at times, frustrations would boil over and it was difficult to remain patient. Emotions would run high. This brought with it some guilty feelings at times and now, there would be more feelings of guilt as the diagnosis came. Alicia explains, “In the early years there was a lot of guilt because she wasn’t easy. Once we got the diagnosis, more guilt. How could we be so frustrated with her, she couldn’t control her behaviors!” Once it was known what it was that was taking place with Bailey, there would be an increase in understanding and an effort towards showing greater patience. Alicia stated that they remain devastated but they are no longer in denial over what they have learned. They now understand that this is part of their life. A big and very involved part. Daily, they experience a type of love that is mixed with heartache. The heartache brings other complications with it. As was mentioned earlier, Alicia suffers from Crohn’s disease. Crohn’s is a type of inflammatory bowel disease. This can cause inflammation of the digestive tract and that brings other complications. Pain, fatigue, and digestion issues of course. This can lead to weight loss and malnutrition. It is often painful and debilitating, and it can lead to life threatening complications.  Times not forgotten! Alicia has seen the worst flare up of her life in recent times and it has come as a result of the stresses related to Bailey’s Batten diagnosis. This has resulted in the need for surgeries and medications. Sometimes, when it rains, it pours folks. Alicia has been on disability since October of 2020 because of this. What about the other members of this family? Bailey’s dad, Chris, deals with things by staying busy around the house. Much of that time is spent adapting the house to Bailey’s changing needs. Alicia shared that Chris had back surgery back in the Fall of 2019. This along with his age concerns her but Chris won’t quit doing what’s needed for Bailey. There is no quit in him, he is the dad. What about young Dylan, who is 14 years of age? Alicia says that most of the time, Dylan locks himself away from things in his room. She stated that he is typical for a kid his age, spending way too much time on his gaming system. You know what happens to kids like that? They turn into computer programmers or other types of IT professionals (that’s what happened with our son Daniel). Alicia says that Dylan can be a really funny guy with a great sense of humor. That is when he “graces the rest of the family with his presence”. Dylan and his big sister Ashleigh have always had a great relationship with each other and a strong bond exists there. Ashleigh is a great source of pride for both Chris and Alicia. She has grown into a wonderful young adult and her presence in the family is so appreciated. Her parents not only appreciate the person that Ashleigh is but they also appreciate the level of help that she offers them with her sister. Ashleigh, who is 23, has grown to be an amazing big sister to Bailey. She is very understanding of her and the bond between her and Bailey has now grown to be stronger as well. In Alicia’s own words, “Ashleigh is so amazing and a HUGE help to us.” Together, the Morse family lives with a tragic set of circumstances as life relates to Bailey. They do have to watch and see her regress. They know full well what this means as they see what is taking place as she declines. They also see Bailey’s resilience. They know that Bailey is not able to understand what is happening to her but they do know that she is happy. The disease does not allow her to know what is taking place with her health. Obviously, she is aware of the fact that she is blind and she calls the absence seizures that she experiences “shadows”. Her behavior has changed as the disease has progressed a bit. Alicia stated that the tension that once existed with her is now gone. Bailey now has “a happy-go-lucky attitude in life. She loves to color, even if as her mom tells us, she just scribbles. She loves music and her favorite television shows. Bailey loves playing with blocks and her Shopkins toys. Alicia explains what she sees as Bailey plays, “Her playing is not like a typical child and it’s heartbreaking to see her limitations but we’re thankful she can still do what she can.” Just like the other Batten families that we have read about, the Morse family is doing their best to create happy times for Bailey and precious memories that will last a lifetime for all of them. Bailey remains part of the family experience as they live life together. A Love Complicated  So very special is she! There is laughter, yes, but there are also challenges that are not faced by many. When it comes to some of the minor problems faced by others and the drama that is self-inflicted, Alicia has little patience. If only people could walk a mile in the shoes she has to wear most days. Perhaps they would see things differently. This, I firmly believe is true! Alicia shared with me some additional details concerning the challenges that they face as a family, “I know we both have a hard time seeing other children living their best life, knowing Bailey will never graduate, marry, or have children … It’s also tough accepting that none of her little friends play or talk to her anymore ….” The attitudes that they see in the adult population around them varies as well of course. This all would be heartbreaking for sure but there are also opportunities for the family to see the good in people as others seek to help. The level of support from friends and family varies but there are some people who really stand out in the crowd. Alicia explains further, “It has also opened our eyes to the generosity of people. We’ve received so many words of encouragement and genuine concern for Bailey’s well-being. We’ve received surprise packages in the mail for Bailey, as well as multiple donations so that we can take her on memorable excursions. The donations also allow us to continue to make adjustments to our home to accommodate Bailey’s needs, as well as give Chris freedom to be involved by taking time from work as needed.” It is true that having a person with special needs in your house requires a lot of additional work. This is simply because special individuals cannot do everything for themselves. A young girl who is blind and suffers from dementia would certainly fall into this group. Bailey requires a lot of assistance and needs to be guided around the house, bringing her to the bathroom and any place that she needs to go. A big concern is just keeping her safe and out of harm's way. Even with the additional help, there is no guarantee that Bailey would remain injury free. Alicia shared that poor Bailey recently fell face first, chipping her front teeth and biting her lip pretty severely. How do you prevent something like that from happening? It would both be heartbreaking and of great concern and I know that this family is doing their very best. Batten disease is a monster! Bailey’s family is always on watch for seizures and random falls. In addition to the extra attention that needs to be paid to Bailey are all of the doctors appointments that have to be attended. These are a constant in this household. All of this together is tiring for those that help with Bailey’s care, none more so than with her mom Alicia. Added to this is the anxiety over what is to come as well as some issues related to Bailey’s mental health. Alicia explains, “The anxiety of what’s next and the constant care, the relentless repetitive questions, always the same questions, multiple times an hour (we’re told that’s the dementia) .… Her speech has been severely affected and it’s tough to understand her at times.” There are always guilty feelings over the mix of emotions. This isn’t easy. It’s nowhere near being easy. Bailey can be very frustrating and the attention needed is really demanding and yet, the love that they have for her as a family is immense. There is a mixture of being heartbroken over the effects of the disease and the love that they all have for Bailey. Alicia started with two individual words when I asked her what her love for Bailey is like. She simply used the words “special” and “complicated”. Those who know what it is like to care for a child like Bailey know exactly what Alicia is saying. She adds with the following to what has already been stated, “We love her (Bailey) so much, no matter what. But we’re tired. We have other kids that need our attention but don’t always get it. This is definitely an emotional roller coaster!” Alicia does know that they all need to remain thankful that Bailey can still do the things that she is able to. Much more will follow and she knows that they need to enjoy having Bailey in their midst. I’ve often said that what is seen from a distance can be different than what is experienced by those that are in the middle of the battle. Dealing with the daily grind of caring for someone like Bailey ….. All that may be felt is the anxiety that is created on any given day. What others might see from a distance would be the love that is being poured out on Bailey’s behalf. Does that make sense? Bailey is the baby of the family and that is a special position within the family hierarchy. Chris and Alicia had no idea how baby number three would one day impact this family. Bailey will always be a part of who they are as individuals. This is a certainty.
I generally ask for a parent's help in choosing pictures to include with each of these stories. I’ve written a lot about the challenges that are being faced by this family. The pictures included do add some details that may have been missed by me. There is joy and there is laughter. It’s just that there are also challenges for this family that will not be faced by many. This includes grieving for someone that is still with them. These two teenagers from Middleboro would grow into a life together and find that it would be different than what they had envisioned. I ran across this quote from an unknown source that Alicia had saved in her picture albums. Seeing it sent my closing for this story in a different direction and the quote is so perfect. Here is what it said, “Sometimes you have to let go of the picture of what you thought life would be like and learn to find joy in the story you’re living.” The story that the Morse family is living includes the love that they have for Bailey. It’s a type of love that is complicated. There is joy but there is also a variety of other emotions involved. We’ve talked about the challenges and the heartache but there are also those sweet details that exist any time you provide care for someone like sweet Bailey. One other word, or rather, phrase that Alicia used to describe the love that she has for her daughter is the phrase “never ending”. There is an unconditional, profound, and undying type of love that is being given to Bailey. That love will never go away. This family’s story will continue and Bailey will always be a big part of who they are as individuals. Her life will affect the lives of each of her family members like no one else's can. Much about Batten and the type of love that it creates is complicated. Bailey’s impact on her family however, will be without question. Another warrior unaware and another, very special family. I appreciate the opportunity to help tell their story. ~Greg Lopez~ Blogger and Advocate  Mom and Daughter. “I immediately looked up Batten Disease and started crying. The more I read the harder I cried. I still remember seeing the word ‘fatal’ through my tears and stopped reading and started praying. How could this be my daughter’s future?” ~Melissa Becker~ Addy’s Mom and Advocate Most often, having children is just the natural thing to do when you find that person in life. The person, that is, that you want to spend your life with. For most everyone, it’s just the natural thing to do. That is the way that it was for us. Both my wife and I had siblings. In my wife’s case, she came from a large family. As a young married couple, we had friends that were having kids of their own and doing so was a shared experience in the peer group that we were a part of. I have to admit that we hadn’t put a lot of thought into things. As the saying goes, when you aim for nothing, you hit it every time. Thankfully, everything turned out well. Yes, we would one day find ourselves being parents to a child with special needs. Yes, there have been challenges along the way but we wouldn’t change anything at this point. For other people, things are different. They plan their future out as far as career ambitions and having a family. People often think about the size that they want their family to be and they sometimes have a gender in mind. That is hard to control of course but many people will get the desires of their heart, boy or girl. I can tell you that after raising three kids on one income that two children sounds like a good number. In that case, one of each, a boy and a girl sounds good. I want to add that in some cases, children who were unplanned can come into a person’s life. In that case, it is the most wonderful thing when someone discovers that having that little person in their life is an amazing experience. An experience that they were meant to have. I think that for most parents, they just love having a family, no matter what the gender of their children. However, a case can be made …. There is a special bond between a dad and his son. It is also very true that the bond that exists between a mother and her daughter can be especially close. I always like to say that there is no love like a mother’s love. It’s a maternal kind of a bond that takes place before the child is born. Moms love their baby boys of course but the relationship that is formed between a mother and her daughter is often very special. It’s a “no brainer” that people of the same gender would relate well to one another. When it comes to a mom and daughter, this would be real on an exponential level. The shared experience as a daughter grows and the mom's ability to relate her own upbringing to her daughter’s would cause this to be true. There are so many things that a mom might look forward to as she holds her infant daughter for the first time. Think about the shopping trips together and all of the conversations that would be had. Think about time spent at different restaurants and all of those four dollar cups of fancy coffee together. There could one day be trips to the beautician together, the list goes on and on. There are all of those life events that are looked forward to as well. Dance recitals and sporting events. Graduations at all of the different levels of education, all while having the opportunity to provide guidance as the years pass by. The bond grows closer and closer with time. Sure there can be troubles along the way but those are dealt with because of the love that exists. The ultimate experience for a mom is seeing her daughter’s hand being given in marriage. This while knowing that she did her absolute best in helping her daughter to develop into adulthood. The relationship doesn’t end there. It’s one that will last for a lifetime. It’s common to face problems along the way. Some will see more than others but hopefully, the struggles faced are ones that can be overcome. One would expect situations to occur in the course of raising a child and some can be more difficult than others. And still, there are situations that may arise that are rare and that no one could see coming before they happen. That’s what takes place when a child is diagnosed with a rare disease. All of a sudden, the things dreamed of begin to slip away. All of a sudden, life is so different than one could have imagined. Given the word terminal as a part of the diagnosis shatters the reality that was once expected. There is shock and complete dismay over receiving the news that changes a family forever. That is what happens when a parent is told that their child has Batten disease. The milestones of a child’s development will be stopped or erased as digression sets in and abilities are taken away. The complete and utter shock over such a diagnosis will eventually give way. This, even though the heartache continues. There is however, a change that takes place. What is felt initially will eventually give way to a renewed strength and a will to do everything possible. That is to help your child battle like the little warrior that they must become.  Things are now different. Life has changed in a dramatic way. There are challenges that will be faced that are unknown to most any other family. This is because of one person who really needs you and needs your understanding. As a family, challenges will come and all family members will be affected by this one who battles. There is a type of love that occurs when love is mixed with heartache. This is a type of love that is profound and a type of love that is undying. Those who love one who battles have no quit in them. You never know how strong you can be until you have no other choice. It is so discouraging to see the things that were expected slip away. And yet, there will be times of tenderness and memories being made that are oh, so sweet. That is what life is like when someone battles Batten. Heartache not experienced by many will be felt. It will be mixed with love so strong and a bond that cannot be broken. Each one of these families are special because of the special circumstances that surround them. This is not even to mention the one who battles Batten. Each one is a resilient young warrior. There is so much that they teach us along the way. How to find strength when we feel like we can’t go on and what it is that is really important in life. These are just a couple of things, of which there are many more. The way that they bounce back after each setback as they battle. The joy that they continue to show for life even in the face of adversity. All of this and more will be seen in each child that battles Batten. This next story has many of the elements that we have talked about so far. Let’s get started as we begin to tell the story about a young lady named Addy. Addy’s story, of course, begins with her parents' story and we will look at things from her mom’s perspective as we begin. It all began as a young adult named Melissa Munch was out socializing with friends and family. It was on that day that she met the man that would one day be her husband. His name was Kevin. There was an immediate attraction between them and they would soon begin to date. The two of them didn’t want to rush into marriage and instead would date for several years. Kevin and Melissa had met in 2001 and would marry in 2007. More often than not, a life together involves wanting to have children and that was the case for Kevin and Melissa. Once married, the couple would want to start a family. They didn’t want a huge one. In fact, two sounded like a good number. Wouldn’t it be nice if they were to have one of each, both a boy and a girl? Melissa would soon conceive after the couple began to try for their first pregnancy. Much to their delight, all would go well as Melissa found herself carrying their first child. Her pregnancy would also go well and there would be no major complications. This would include the delivery. Their first child would be born in 2008 as Melissa would give birth to a baby boy. Kevin had a son and he and Melissa would name their newborn Matthew. From first sight, he was a perfect little man. He had all his fingers and toes and he was happy and healthy. Looking at baby Matthew for the first time brought great joy to Melissa. This as Matthew’s tiny eyes looked up into hers and also, all around at his new surroundings. You just know that this young couple was so proud and happy at that point in time. This is an event that couples long to experience together. Being a first time mom was everything that Melissa had thought it would be. In fact, it was better than she expected. The entire experience of carrying Matthew and delivering him into this world was amazing and it all seemed effortless. As a matter of fact, it was that very night that Melissa had been saying, “this was so easy, I want like 5 more!” She would hold Matthew non-stop, not wanting to let him go. In her own words she would say that her “heart was so full.” Motherhood for Melissa was everything that she had imagined it would be. Her mom would even tell her to quit holding Matthew so much but it was difficult for her to put him down. Up until that point, she never knew that being a mom could bring such happiness. Kevin and Melissa wouldn’t rush into having another child. They would instead, enjoy some time with their son, and with each other, waiting for a couple of years before trying to have another child. It would be after that period of time that they decided that it was time to try for another child. The experience with Matthew had been wonderful and the couple wanted a playmate for their son, a “buddy” and a “best friend”. The One Hoped for  The one that was hoped for! It would be a different set of circumstances as Kevin and Melissa attempted to have another baby. As things would turn out, Melissa would have a much more difficult time with getting pregnant. In her words, “God had other plans for me I guess.” The first complication was that as Melissa became pregnant, she would miscarry. This happened twice and it must have been heartbreaking with each occurrence. With this, Melissa would seek the help of a doctor specializing in fertility issues. In vitro fertilization or (IVF) would soon be used in the process, however, a couple of other issues with Melissa’s health would arise before that would take place. One problem was that she was having an issue with blood clotting. The other was that she was found to have a condition called MTHFR (short for methylenetetrahydrofolate reductase). This condition would be difficult to explain as it is new to this writer. One thing that was noticed is that blood clotting can be part of the MTHFR. Let’s just say that among other consequences, having it can be a hindrance to a woman's ability to become pregnant. There are a host of treatment types for the condition. These include the use of hormones, changes in diet, and adding nutritional supplements. Melissa would be treated in this way and would get to the point where it was time to try again. Sadly, Kevin and Melissa’s next attempt at having another child would result in another miscarriage. It was now time to take additional measures and this is when IVF would be used. Melissa had not given up hope for Matthew having a brother or sister to play with. They would just have to go a different route in order to have another baby. She definitely hadn’t lost her sense of humor, even after all that they had been through. When it came to the IVF procedure, Melissa had this to say, “When the doctor did the egg retrieval I told him ‘find all the pink eggs!’ Because I wanted a little girl so badly. To me, one boy and one girl, was the perfect family!” As I said in the opening, two children seems like a good number and it seems that Melissa would agree. Her wish to have that second child be a girl would come true, but this would take place through a set of difficult circumstances. This would include a challenging pregnancy. The IVF procedure would be successful and Melissa would become pregnant. She was unaware at first but the fact was that twins were conceived. Sadly, one of those babies was lost right away but Melissa’s pregnancy with the other child would continue. This would not be easy for her. There would be hormone shots and many trips to the doctor. Among other complications were frequent headaches and this baby would be considered a high risk pregnancy. There would be many ultrasounds done in the weeks that would follow which would leave the couple with a lot of images of their unborn child. It would be at the twenty week mark that Melissa would find out that she was going to have a girl. Not only that but this baby was healthy and all was well. During one ultrasound, Melissa was able to watch and see every detail of her baby’s heart as the doctor and staff looked on. For her, the experience was just amazing. After everything that they had been through, there was a feeling of great relief as Kevin and Melissa felt that they were finally in the clear. That second child that they had wanted was finally on the way. To make things even more exciting to Melissa was the fact that she was going to have a girl. Even with the challenges that had occurred along the way, Melissa’s pregnancy would continue and the anticipation would grow as the days passed. Finally, the time for the big event would arrive as Melissa’s daughter was about to enter into the lives of her family. The date of the big event was August the 20th of 2012 and it would take place at Rush Copley Medical Center in Aurora, Illinois. Melissa remembered that it all would take place early in the morning with her baby being born at 7:09 a.m. This proud mamma of two children would deliver her baby normally, although it would take longer than it had with Matthew. She stated that the only issue that would develop in the course of the delivery was that her blood pressure kept dropping. Of course, the medical staff would continue to monitor Melissa during this time. Think about what they had been through with the miscarriages and all of the problems with Melissa’s health. The roller coaster of emotions and the fear that a second child may never come. In her own words, “it was such a fight”, but there she was after the delivery, holding her infant daughter. Melissa’s heart was so full and she was overjoyed as she held her baby girl for the first time.  Absolutely beautiful. Here is how Melissa described the experience, “When I finally got to hold her and look at her sweet face, I was so in love and knew my heart was complete. She was so sweet and beautiful and perfect. She was tough from the very beginning and fought her way to arrive on Earth to be with us. It is amazing how you think that you love so much and could not possibly love more. But, the minute that baby is born your heart grows and fills to make room for her. Then you wonder how you ever lived without her.” The couple would name their daughter Addelyn Kay Boggs with her middle name being that of her great grandmother. Addelyn was a very healthy weight when she was born, being 7 pounds and 7 ounces. Addelyn was flawless and perfect in every way. She had all of her fingers and toes and she was covered in brand new baby skin. Melissa could not wait for Matthew to meet his new little sister and for all of them to go home and be a family together. Far from Melissa’s thinking at that point was the consideration of future difficulties. There was only the expectation that a life together with her daughter would bring an abundance of love and memories. She looked forward to all of the events that one might expect to take place. It’s just a fact that as kids develop, challenges often come as they grow. Health concerns can arise with children and that is often just part of growing up. Some kids will experience more than others but hopefully, the resilient nature of being a child will help carry them through. It seemed that baby Addy would have her challenges right out of the gate so to speak. She would have several issues that would hinder her right away. According to Melissa, Addy had difficulties sleeping as a newborn. In addition, she had a problem with throwing up as she would do it all of the time. Adding to Melissa’s frustration was a lack of cooperation from Addy’s pediatrician. The switch to a new doctor would result in finding that Addy had a milk allergy. On top of that, she also had a very bad case of acid reflux. How uncomfortable this had to have been for baby Addy. The doctor would end up recommending a special formula and would prescribe Prevacid for Addy’s reflux issues. There were other natural remedies used as well. As if that wasn’t enough, Addy also suffered from something called torticollis. This is simply a condition that involves tightness in the muscles of the neck. This will be recognized by the infant tilting his or her neck to one side. It may be caused by the position held by an unborn baby in the womb or the procedure used during delivery. Position changes and stretching exercises can help. In Addy’s case, she would be brought to physical therapy sessions to be treated. Poor Addy, there was more to her situation. At about four months old, she would be diagnosed with Respiratory Syncytial Virus, or RSV. This virus causes infections in the lungs and the respiratory tract. This would require another course of treatment for Addy, mainly breathing treatments and the use of steroids. Poor Addy would have to sleep in a swing so that she could breathe better. This would be another issue that would inhibit her sleep. The RSV would also cause Addy to have croup and have it often. The problems for the tiny princess would continue to mount but they were the types of things that could be overcome with time, and in the course of her development. Even so, this had to be a trying time for Melissa and Addy too. Melissa speaks to this in part, “It was hard as her mom because I wanted to hold her and snuggle her all the time, the way I did with Matthew when he was a baby, but she threw up all the time. I still held her as much as I could and usually had both of my babies snuggled up on my lap. I was so happy.” Melissa went on to explain that poor Addy would cry a lot because of the pain that she was in. How heartbreaking would that be for a young mom? The only comfort in the situation came from the belief that they would get Addy’s medical issues figured out in time. Even with everything that Addy was going through, she was a happy baby. As expected, she would continue to grow and meet all of her milestones. Through diet and medications and for the most part, they would soon get Addy’s reflux under control. The Perfect Little Lady  Little Miss Personality. The croup, however, would continue to be a problem and there would also be steady ear infections and bouts with strep throat. Addy would end up having her adenoids removed and she would also get tubes placed in her ears at about ten months. Princess Addy had to be a warrior from a very young age. Such is life at times for children and Addy would show everyone what a resilient little person she can be. In Melissa’s own words, “The ear infections were so bad she ended up with a hole in her eardrum. But, she was the toughest baby and hardly ever complained about her ears. She also had a lot of digestion problems that got better with changing her diet. We used to joke that she was so tough because of all the steroids she was on.” In spite of all that Addy had been through as an infant and toddler, she was the happiest of little girls. Melissa would go on to say that she was funny and very loving towards everyone that she met. No one was a stranger to Addy and everyone that she would meet would fall in love with her. Addy was friendly like her big brother was but she was even more outgoing. She would grow to be a real character and somebody that loved life and those around her. Addy had an ability from early on to make other people laugh. She just had a wonderful sense of humor. Her interests were typical for a high energy little lady. Addy loved to sing and dance and she loved doing crafts. She seemed to be unaffected by her lack of sleep, having all the energy in the world. Other than what she was facing from a medical standpoint, Addy would grow into what most would consider to be a typical little girl. A very charming and adorable one at that! Addy was growing to be a remarkable little lady. Yes, she had more than her share of issues medically but these were the types of things that can be overcome in time. She did have the challenges with her stomach and with her ears but that had been it. The issues for Addy had been difficult for Melissa. They had left Melissa’s life with challenges not experienced by the majority of us. Melissa’s life was full, with teaching full-time and parenting her two children. To make matters even more difficult would be the fact that her marriage had failed. It is just the way things go in life at times. Two people meet and fall in love but then grow apart. This would happen when Addy was about 2 years old and Matthew was about 6 years of age. Although Melissa and Kevin both loved their children, their lives had gone in separate directions. Melissa felt that for the sake of the children, it was best to go it alone for at least a time. Even though it was felt to be the best thing for all concerned, the separation and divorce would be difficult on everyone. Even with this, life would go on. It always does. Addy would continue to grow and reach each milestone as expected. Melissa said that her daughter was, and still is, a very bright girl. She would learn her letter and numbers, and her colors. Addy loved to paint and as a mom who was an art teacher, Melissa loved to see this. As was already stated, Addy loved to dance. At age 3, she started to dance with the dance company in town. Addy loved it so much and she was a beautiful tiny dancer. Melissa said that Addy loved the stage and she was a natural in that environment. She wasn’t one bit nervous as she performed in front of an audience. The interaction between Addy, her friends, and her teacher was something that she treasured. Addy was an artist and a performer in the making. Her babysitter was a good friend of Melissa’s and she and Addy would spend a lot of time crafting together. Addy loved this! This princess was growing and learning by leaps and bounds. Melissa stated that she was thriving and was so happy. Addy was always on the go and she had such a wonderful little sense of humor. She was just so funny. There was so much potential for her future development and so much to look forward to in Addy. One might expect that along with the things looked forward to would come additional challenges in life. Those are normal occurrences as we grow. Hopefully, those things would also be overcome. Another issue would arise. Addy started to complain about headaches at around the age of 4 years. She complained that her eyes were hurting and the family noticed that she was standing close to the television. The natural assumption would be that her eyes hurt because she was watching TV from so close of a distance. Was there something going on with Addy’s eyesight? Was that the actual reason why she was so close to the TV and also experiencing headaches? One thing that was obvious to Melissa was that Addy’s eyesight needed to be checked. She may have needed a prescription for glasses, so Melissa took her daughter to see the doctor at the local Target store.  Two attractive children! After examining Addy, the eye doctor stated that she was color blind and she also had an astigmatism. Addy was prescribed glasses. Melissa said that she was shocked about the color blindness because Addy knew her colors. Being an art teacher and painting together, Melissa and Addy would talk about the various colors that were used. Melissa would test Addy when they got home and she could see all of the colors. However, Addy could not see the numbers within the color blind test. Melissa could tell that something wasn’t right. This was taking place in the Spring of 2017. More questions would arise as Addy began kindergarten in the Fall of that same year. She would turn 5 years old a week after starting with her class. Again, Addy showed herself to be a bright little girl who could already read words and who knew her numbers. She also knew shapes and could do simple math. Melissa said that she was well behaved and worked hard at learning. Addy was a little jewel and she had a lot of friends. Kindergarten was only a half day program so she would also attend preschool where she was loved as well. Addy was still getting close to the TV and she was also moving items closer to her face in order to see them. On top of this, she had a habit of tripping a lot. This was being chalked up to issues related to her ear drum and also being a little clumsy. Visible to her teacher was the fact that Addy was having to lean closer to her school work in order to see it. Her teacher also had to move her closer to the board in class. As time moved forward, Melissa’s concern would continue to increase. One incident in particular was troubling to her and she shares the details here, “What really set up a red flag for me was when Addy’s name was chosen as a winner of a contest. To show the winner, her teacher put her name on the board and Addy did not respond at all. She knew how to spell and write her name. Her teacher was very concerned and said she honestly didn’t think Addy could see it! At this point, I knew I wasn't being an overprotective, worrying mom.” Melissa knew that something was wrong. This all would have been difficult under any set of circumstances but even more so had Melissa been going through this alone. Imagine, with a full-time work schedule and all. I’ll continue with the story shortly but let me stop for a minute to explain. In actuality, Melissa had a friend by her side as Addy’s situation would develop. Really, someone that was, and still is, much more than a friend to her. Matt Becker had been friends with Melissa for years. In fact, they had worked together during that time. Both Matt and Melissa had attended Birthday parties for each other's kids and Melissa had painted murals in each of the rooms of Matt’s boys. Of course, each was committed to their own marriage partner and their interest in each other was only in friendship. That would eventually change. Just as Melissa would go through a divorce, so had Matt. As each one became single, they would increase the time that was spent together and their relationship would change as a result. It was no accident that when Melissa needed someone like Matt in her life that he was there for her. They went from friends to much more at a critical time. Melissa explains, “He was always someone I could count on and he always made me smile. He listens and doesn’t judge and always has a hug. We started hanging out with all our kids together and it was fun and crazy. Matt is an amazing dad and makes everything fun. He is the dad who actually plays with his kids at the park. We started dating and it all just came natural. Our favorite saying was ‘life is good’ because finally, it was. We were happy and healthy and loved life together.” The couple would buy a house in 2015 and would marry the year after that. As things would develop with Addy, Melissa would have her friend and life partner there by her side. Melissa described what life was like at that point, “Life was fun and crazy and loud and busy and we were very much in love. Matt accepted my kids and loved them as his own. He told me he always wanted a girl and now he got to help raise Addy. They had a great bond. He drove her to daycare and home everyday and they had fun singing songs and playing games. They loved fishing together.” This was important to everyone because as time continued, the concerns over Addy’s situation would deepen. Melissa’s search for answers would continue and her next step would be to take Addy to see another eye doctor. Unfortunately, what would happen next is typical when health professionals aren’t compassionate or, at the top of their game so to speak. The Search for an Answer  Love this pic! While at the next doctor, the nurse put the letters up for Addy’s eye exam and she was not able to see them. Even as she would increase the size of the letters. The nurse would ask if Addy even knew her letters to which Melissa would reply, “yes, she can read!” Why would she even ask such a question? The nurse kept trying to get Addy to answer, all the while, Melissa’s heart was breaking because she knew that Addy was trying her best. The nurse went so far as to offer Addy a sticker if she would answer. Both the nurse and the doctor thought that Addy’s not telling them what the letters were was a behavioral issue. The doctor would simply change Addy’s prescription a little and she reminded Addy to not hold her tablet too close to her face. This is what she felt was causing the frequent headaches. Both Addy and Melissa left being fully frustrated with what had occurred. Melissa’s frustration led to resolve as she moved on to the next level. That was to take Addy to a pediatric ophthalmologist. This would be a big step in determining what was taking place with Addy. It seemed to Melissa that Addy’s eyesight was getting progressively worse and that made the need to reach out even more urgent. Poor Addy could not see her own school work. Can we understand how frustrating that would be for a young girl or boy to have that change taking place in their eyesight? It would be frustrating and perhaps, frightening as well. The appointment would be made and both Melissa and Matt would attend with Addy. As they arrived, there would be an instant connection between Addy and the ophthalmologist, Dr. Davis. This doctor would listen as things were explained to her. Dr. Davis believed Addy when she told her that she couldn’t see the letters of the test. This doctor would look into this further. She didn’t push Addy but instead, scanned Addy’s eyes. Her mom and stepdad would be shocked to learn what the cause of Addy’s vision problem was. In Melissa’s own words, “She immediately pulled me aside and said ‘she has no retinas, they are gone, no wonder she can't see!’ She explained that it was like Addy was holding her fists in front of her eyes and trying to see with a big black spot in the middle of everything.” No wonder she had been struggling to see the television and the board in her classroom. Addy had still been able to see out of her peripheral vision and that is why she would turn and tip her head when she was reading or drawing. How completely heartbreaking it must have been to learn what was taking place. The doctor informed Melissa that Addy was legally blind and would never drive a car. Something that was looked forward to was all at once, not to be. What other things would Addy be unable to do in her lifetime? The realization brought Melissa to tears. She felt horrible, now knowing that Addy’s vision was that bad but not having realized it before. Matt was equally upset ... both were in shock. Dr. Davis would consult with a Retina specialist and he would be in agreement. Although he thought that it would be unlikely, that doctor suggested that Addy may have Best disease. Best (Best vitelliform macular dystrophy) is a disease that affects the retinas. The only thing is that the onset for Best would normally be much later in life. It was unlikely that Addy had that going on. Finding out what was taking place with Addy’s vision would not be easy. Melissa said that the next step would be to have Addy evaluated by the ophthalmologist at Lurie Children’s Hospital in Chicago. The staff at Dr. Davis’ office would assist the Beckers in getting an appointment for Addy in Chicago. Understandably, Melissa cried the entire time as they returned home. The thought of how limited Addy’s life would be because of her lack of vision was what brought her to tears. If only that was to be the worst of what would come. Addy would soon meet the ophthalmology team at Lurie in Chicago and with her this time, would be her mom and her dad, Kevin. The staff would perform a lot of testing and would diagnose Addy as having 20/200 eyesight. Just like Dr. Davis had shared, the team at Lurie stated that Addy was legally blind. They suggested that Addy’s family start purchasing equipment to help her and they recommended that Addy connect with a vision itinerant. The itinerant’s job would be to help identify what Addy’s needs were and how to go about addressing her situation.  SO adorable right here. The doctors could see what was happening with Addy’s vision but they had no concrete answers as to why she was losing her eyesight. They didn’t believe that she had Best disease but they didn’t have an alternate answer. They decided to do more testing while Addy was under anesthesia. Soon after conducting the tests, the doctor would draw the preliminary conclusion that Addy had cone/rod dystrophy. The doctor was still not sure and recommended genetic testing to help in the search for an answer. It was also suggested that Addy start learning Braille. She had been using a print enlarger and reading very large print only by then. Addy was in the 1st grade by this time and Melissa would ask for an IEP to be done on her daughter’s behalf. Also, as had been recommended, Melissa would push for time spent with a vision itinerant. As would be expected, both of Addy’s parents, Kevin and Melissa, would meet with a genetic team. They would go over each of their medical histories and both would consent to having blood drawn for testing. It had been explained during their meeting that the answer as to what was taking place with Addy may or may not be found. Even so, they had to proceed. Unfortunately, in what is too often the case, the insurance company would put up a fight when it came to paying for the testing. Kevin and Melissa would eventually succeed and the blood draw would take place. As all of this was happening, Addy’s eyesight was continuing to deteriorate. Both households would have to wait a long time for the results of the test and in the meantime, Addy’s vision had descended to 20/400. Her prescription for corrective lenses had been changed once again. Melissa needed an answer and she needed one soon. The wait had seemed like forever and she decided to give the genetics team a call. What she would find out once she did was that someone had dropped the ball, so to speak. The person that the family had originally met with was no longer there and Melissa was given a new person to talk to. Once she was connected, Melissa was asked whether or not she had decided to go through with the testing. What? Of course she had and she should have had the results back by then. Melissa said that she was furious and who could blame her? This kind of thing should never happen but in fact, it does. Finally, the blood work was sent in for testing. So much time had been wasted as Addy was completing her 1st grade year. It would be the summer of 2019 that Melissa would get a call from the genetics department at Lurie. Up to that point, Addy had been working with her vision itinerant and she was also taking braille classes. The genetic counselor said to Melissa that they had a probable match and she asked Melissa if she had ever heard of Batten disease. Most people will not have heard of Batten unless they know someone who has been diagnosed with it and Melissa had not. She was told that they could not be 100 percent sure of the diagnosis at this point without more testing being done on her and Kevin. Even so, they were confident enough about the results that Melissa was encouraged to look up information on the disease. The counselor stated that she was there to answer any questions that Melissa may have and then the phone call ended. Melissa knew from the tone of her voice that whatever it was, Batten was pretty bad. However, at that time, she just expected that the disease would only cause Addy to go completely blind. In Melissa’s own words, “Honestly, that was the worst thing I could think of.” Complete blindness is something that a person can adapt to as they continue to live their life. Certainly, there would be challenges along the way even if that was the only issue they would face together. There was, however, much more taking place with Addy than Melissa could know about at that point. She did what any other parent would have done upon hanging up. She started to research Batten disease over the internet and what she read brought her to tears. The more she read, the harder she cried. The hardest thing for her to discover was that what Addy was facing was a fatal disease. Melissa quit reading and began to pray. How could this be happening? Other than the issue with Addy’s eyesight, there were no other symptoms that she was displaying. None that would be related to Batten disease. Hoping for Hope  A special bond! Melissa was certain that Addy would be shown to be in the clear once she and Kevin were tested. Melissa shares, “I kept thinking how hard I worked to have Addy and that there is no way anyone was going to take her from me.” Melissa was so sure that the Batten diagnosis was a mistake that she didn’t want to bother her mom with the news. Although she wanted to tell her, her mom had been fighting her own battle with cancer at the time. Her certainty concerning the false diagnosis kept her from adding on an additional burden. The more that she and Matt read about Batten, the more certain they became that this diagnosis was false. Melissa felt that there was still hope as she and Kevin went to get tested. That summer, hope would turn into shock and complete dismay as Melissa received the news, Addylen Kay had CLN3, the Juvenile variant of Batten disease. The problems that were occuring with Addy’s vision were perhaps the most common early symptom of the disorder. Melissa talks about her response with the following, “Rachel (the genetic counselor) called to tell me. I was sobbing and asked her, could there be any chance this was wrong and she told me no. After a few days of shock and disbelief and snuggling Addy every single second I could, I decided it was time to start fighting.” Almost without exception, every story includes a transformation that takes place on behalf of those who receive the news concerning their child. Things such a shock and discouragement give way to renewed strength and a will to help a child battle. All the while the heartache continues. Melissa would find the will to fight for Addy but it would be without any encouragement from the genetics team. Both Kevin and Melissa, and each of their spouses, would meet with the staff at genetics department to discuss their findings concerning Addy and Batten disease. They told Melissa and the others that there wasn’t much that they could do for Addy at Lurie hospital. They recommended that they take Addy home and enjoy every minute that they had left with her. There was no cure and there was not much that could be done. Can you imagine being told something like that? Melissa describes what her reaction was with this, “It was crushing that these world-renown specialists had nothing to offer to save our daughter’s life. They even joked, ‘Don’t worry about little things like making her brush her teeth.’” What? How absolutely out of line was that comment. Melissa continued, “They said we can call when she starts having seizures to get meds to help with that. They also had us meet with palliative care and I had no idea what this was. They handed me a brochure and I scanned it and thought wow, they really don’t want to even try to help Addy.” While Melissa could have given up, right then and there, she didn’t waiver in her resolve. She would not accept this give up and take the time that you have left kind of attitude. Melissa was going to help Addy in finding a cure or at least, a form of treatment. She would help her daughter fight this disease by finding those that can help! To just accept that Addy would succumb to Batten disease was unacceptable. Melissa further explained her feelings, “It was so unfair that this sweet, loving, funny, kind, big hearted, and amazing girl was dealt this awful hand in life. I wanted to squeeze her and hug her and love on her and never let her go. I felt so mad and felt my heart literally breaking for my sweet girl. A parent should be able to protect their kids and I couldn’t do that. But, I wasn’t going to listen to these doctors and I wasn’t giving up on my girl!” Melissa felt in her heart that God wanted Addy here and that he had plans for her. Hope still remained and Melissa would cling to that. She does so to this day and says as much here, “I still hold on to hope that we are going to find a cure and she is going to help lead the way. Addy is the toughest girl I know and she is a fighter.” Addy is a fighter and Melissa would do anything to fight for her. She is not doing so alone but has the support and commitment of a loving husband. This is in Addy’s stepfather Matt. He would be there, right by Melissa’s side as everything was developing, even attending every doctor appointment in which he was able. He cried and hugged Melissa because he truly loved Addy. Matt did his best to be the rock of the family even though the diagnosis had been devastating to him as well. He and Addy had a genuine bond and knowing her plight was very traumatic. This was not something that Matt had in mind as he took on this role of stepfather but he willingly accepted the part he had to play.  A stand out step-dad! Melissa shared an exchange between her and Matt that tells us a lot about his character, “I told him, I understood if he wanted to leave because this was not what he signed up for. He looked at me like I was crazy and said he wasn’t going anywhere ... It takes a special person to help raise someone else’s kids. It takes the biggest and kindest heart in the world to raise someone else's kid with special needs.” With Matt, there was no “your kids” and “my kids”. There were only “our kids” and Addy was, and is, a very special part of that group. There would be some immediate disappointments as Melissa searched for a way to help her daughter battle Batten. There would also be some things that would provide hope for the future. The doctors at Lurie hospital had provided Melissa with a few names of other doctors that could help with Addy. Doctors which had experience with Batten and who could give Melissa more guidance about the disease. In addition, Melissa would begin to tell their story over social media and would reach out to others in the Batten community. This would lead to a nurse from Rush University Medical Center in Chicago reaching out to Melissa. Well-known to many in the Batten community is Dr. Berry-Kravis and this nurse was associated with that doctor. They wanted to know if Melissa was interested in meeting them in Chicago and of course, she would say yes. While they were there, the doctor had some testing done on Addy. Also well-known in the Batten community is a greatly respected physician named Dr. Emily of Nationwide Hospital in Ohio. Dr. Berry-Kravis had been in contact with her and would talk to Dr. Emily about Addy. At that time, Dr. Emily was involved with the only clinical trial available for kids with CLN3 Batten disease. Understandably, Melissa really wanted her to meet Addy. This was great news and they would definitely make the trip! It would be a long day and as one would expect, Dr. Emily and her team would love Addy. Melissa stated that she would be run through an entire gamut of testing for the UBDRS (Unified Batten Disease Rating Scale). This was done, in large part, to determine how well Addy would do in gene replacement therapy. They had finished the 1st round of the trial and would soon be starting the next. The timing of all of this was not the best as this was taking place in January of 2020. The pandemic that would shut down the world would also interfere with Addy’s ability to enter the trial. This is because getting a vaccine for Covid-19 would become the priority for the pharmaceutical industry. The trial was put on hold. Can we imagine the level of disappointment as this took place. Melissa would continue to reach out to the doctors at Rush and Nationwide, as well as, searching on her own for new trials. To this day, she has hope that Addy will enter a clinical trial soon. If there is a trial to be found, Melissa will find it. Thankfully, the bulk of the burden related to the pandemic seems to be behind us now. Family life can be difficult for a variety of reasons as we travel along life’s way. For a family that has a child with something like Batten disease, the challenges are so much greater. Life doesn’t stop for Batten. It just piles more of a burden on those who face the struggle that happens daily. I’ve been repetitive in stating that having a child that has something like Batten disease produces a type of love that is like none other. A bond develops with that child that is so incredibly strong. For Melissa and those that love Addy, her fight is their fight and they willingly do what is necessary. There will be good days, as well as bad days for sure. Everyone has to slow things down a bit because of the loss of Addy’s eyesight and extra equipment has to be brought on family outings. Also, people have to describe to Addy the things that she no longer can see. Think of her frustrations as she can no longer do all the things she once could. Addy is learning to be as self-sufficient as possible but she needs help with many different tasks. Melissa says that there are mood swings that have to be dealt with and they are careful to choose their battles on any given day. More than with any other person, Addy takes her frustrations out on her mom. Melissa explains, “I am her safe place and I get that she needs to vent and get it out but it is so hard to watch my sweet, cuddly, and kind baby turn into a yelling tantrum mess.” The relationship that Melissa had sought with her daughter has been greatly complicated by Batten. She herself has experienced feelings of anger and sadness. A Family Battle  Talk about a special family. There have been times of confusion and the heartbreak is constant. All of this is, no doubt, mingled with the intense kind of love that we have talked about. It was difficult when Melissa had to explain things to Addy’s older brother Matthew. He had always been Addy’s protector as her brother and as an older sibling. Matthew and Addy had been through the divorce of their parents together and they came into a new blended family together as well. They were each other’s constant while many changes had taken place. To know what the future would hold for his sister would also be devastating to Matthew as the details of Addy’s condition were explained to him. Melissa explained that young Matthew is a worrier by nature and she wanted to keep him safe from knowing everything at first. As things would progress and Matthew’s questions became more frequent, it became necessary to give him the complete truth. A question like, “will Addy die someday” had to be answered. Melissa talks about how she felt as she answered Matthew’s question, “My heart literally ripped in pieces when I had to tell him yes. He then asked me when and I said I couldn’t know for sure but most of the time it was in a person’s 20s or 30s. His face said it all and I felt like the worst mom in the world because I could not take this heartbreak away from my kids.” Matthew has days when he is frustrated and angry with Addy and on other days, he tries to be helpful. Melissa explains that Matthew has all of the issues with Addy going on in addition to those associated with being a teenager. Really, he is doing the best that a young fellow his age could be expected to and he does love his little sister to the fullest extent. Addy also has the love of her two step-brothers. They are Jimmy who is 10, and Ladon who is 9. For them, understanding the changes in Addy may be more difficult because their time is split between two households. That being their dad’s and their mom’s. In addition to the concern that they have for their step-sister is the challenge of showing her patience and understanding. All in all, Melissa thinks that the greater challenge lies with Matthew and she explains that here, “I think it must be hardest for Matthew because he is the only person in her life that is always with her. He wants so bad to ‘fix her’ and he can’t. He told me once ‘Mom I just want my sister back”’ It has been very recent that Addy has begun to have issues with seizures. These do not necessarily occur at the onset of Juvenile Batten disease and Addy would experience her first one at age 8. Every parent is alarmed and even terrified by the occurrence of seizures. This is another reminder that they are facing a monster with Batten. Addy’s family now has to make sure that she is never left alone and every person that is with her needs to be educated on her condition. One of the sweetest things to observe is the bond that has taken place between Addy and her new service dog. Addy adores him and he is already having an impact on her life. His name is Brody and he is amazing with Addy! Addy’s demeanor changes instantly when he is around her. Can you imagine what it is like to have the affection of man’s best friend when you are a young girl in Addy’s situation? Melissa says that the interaction between the two of them is something to watch. I have no doubt that Brody is a huge help and comfort to Miss Addy. It is so hard to find a silver lining in a situation like what this young lady is facing. I’m not looking for one. I do know that there are happy times along with the sad. There are sweet things that happen with Addy and there are precious memories being made. The connection between Brody and his girl would provide some of those but there are many sweet interactions that take place between Addy and her family. Matt is a great step-dad for sure. One case in point is when a daughter-daddy dance that Addy was looking forward to got cancelled. Stupid Covid-19 was again to blame. She was so disappointed and what did Matt do? He had both he and Addy dress for the event anyway and … they danced! Matt and Melissa both know the value of time spent together. Recently, the family packed their bags and headed to muggy buggy (and also the great state of) Florida to go to Disney World. Everyone had a great time, albeit while being a little on the sweaty side. More memories for a lifetime spent together. Addy is doing the very best that she can. She is no doubt an amazing young lady. She receives so much encouragement to do her very best from everyone that loves her and she continues to grow as a person. Addy is able to read and type Braille, which she does at lighting speed. Her education continues!  Addy, you are a very special young lady! Just as we have talked about, and as one might guess, there are good days and bad days at the Becker house. Melissa explains, “Somedays I feel like we can conquer the world and we are going to kick Batten’s ass. Other days I feel defeated, sad, and exhausted. I feel mad for what this has taken away from Addy and our whole family but I will do anything for my girl so we keep pushing on everyday.” Melissa’s expectations for the future have changed but she still has hope for a future with Addy. Oh, that success in achieving the advent of a successful trial and treatment would come. There is hope and encouragement by what has already taken place. CLN3, Juvenile Batten disease, is one of the more common variants of Batten. We need a cure for every young warrior that battles Batten but so many that battle have the CLN3 variant. What a difference it will make when researchers find the success that they are working towards. Just as we talked about in general as we began this story, Melissa had things that she looked forward to as she held Addy for the first time, “When I had a baby girl I dreamed of shopping and coffee dates. I dreamed of recitals and dances. I dreamed of getting our nails done and doing her hair. I dreamed of long conversations about friends, boys, and life. We still do some of these things. It has been hard to watch some of these slip away.” For example, Addy had to quit her involvement in dance and that was so heartbreaking for both her and Melissa.
Things as simple as getting a driver’s license or as important as marriage … they are either in question, or not possible. What is certain though is that Addy’s life will affect the members of her family, and many others, like no one else’s can. Life is different for this family but in many ways, the love that is shared is deeper than could be experienced otherwise. The bond developed with someone like Addy could never be broken because it is stronger than most any other. Love mixed with heartache creates the type of love that we have talked about. This creates a will to fight alongside the one that battles. Most parents will tell you that they would trade places with the one their Batten warrior if they could. Most would give anything. Melissa shares more of her feelings, “I will fight with every ounce of my being for a miracle for my baby girl. The challenges of this disease are something I would not wish upon my worst enemy. To know what the future holds and not be able to change it for a child that does not deserve it is the worst kind of torture I can imagine. To watch your own baby slowly slip away and regress and lose things is pain that is indescribable.” Again, I wouldn’t try to place a silver lining in Addy’s story but there are many sweet details to take notice of. I am just an outside observer and not someone who has experienced the Batten journey first hand. Sometimes, I do think that you can see certain things from the outside looking in. Those things that may not be visible while in the middle of the fight. These families and especially these children and young people .... well, there is something special there. The level of sacrifice and commitment needed from the family members. The strain on a person’s schedule, the sleepless nights, and endless appointments. Whatever is needed is given. So sacrificial is the love that is poured out on the ones that battle. Then there are these kids and their resilient nature. They always bounce back from adversity for as long as they are able. In this and in other ways, they teach us how to handle adversity. So often, they just melt us on the inside. They teach us what the things are that are important in life. It’s not the material items that we own! Also, these young warriors help build a type of character in people that is not possessed by everyone. I could go on but I think you know what I am talking about. This is another very special family with a story to tell. It’s always a privilege to be able to take part in doing so. Thanks to Melissa for her patience in working with me and for allowing me the opportunity. Addy, you are another special one and a little beauty as well. I am so glad that we could do your story. Thanks everyone for taking the time! ~Greg Lopez~ Blogger and Advocate  Such an amazing pic! “This year will be another fight for Charlie to live. I will never be able to put into words what transplant is like. Somehow there is still beauty in this journey. We appreciate life more … God has once again paved our way to one of the BEST hospitals for MPS1. He has opened doors and windows that are normally closed to a struggling single Mother. I feel peace and his presence.” ~Amanda Sinard~ Charlie’s Mom and Strong Advocate I’ve been at this for a while now. “At what?”, you may ask. That would be working with families in telling their stories. That is the stories that tell others about their experience of helping their child to battle a rare disease. The stories include the heartache that comes with the realization that they are on a journey as a family. Parents receive the news that their child will battle something that they very likely, had no knowledge of. That is after a search for answers takes place when the symptoms begin to appear. There are those occasions in which a family’s health history can help one to draw a conclusion. Most often though, the diagnosis comes as news that brings shock and complete despair. Life will be very different than what was expected. Challenges will be faced that were yet unseen. Children are by nature, resilient in their ways as life’s lessons are learned. This is clearly seen on a much larger scale when a child battles something like a disease that is rare and fatal. The things that they show us most certainly caught my attention as I began to write. I often use words that are more than just catch phrases to describe what I see. I tell people that I believe that the kids that battle are the most special and the most amazing. They have a way of changing people’s lives and their way of thinking. They often bring people back to thinking about the things that are important in life. They just have a way about them that is not easy to put into words. Our lives were changed drastically when my wife gave birth to our third son who we named Benjamin. Benjamin was born with special needs. So far, I have gotten away with drawing a comparison. That is between being the parent of a child with special needs and those parents who experience the reality of having a child with a disease that is rare and fatal. I always say that while we have experienced our own set of difficulties along the way .... they pale in comparison to what a family with a rare child will go through. My wife had made me aware of her family history at the very beginning of our relationship. That history brought with it the reality that having a child affected genetically was a possibility. As time passed, the possibility of something like that happening slipped from our thinking. After all, my wife had already given birth to two healthy babies. Our boys were growing and our desire was to try for a little girl. I often like to say that we wanted a girl but we got a Benjamin instead. Are we sorry that this happened? I mean has this kid been a burden? Again, there have been challenges along the way but we absolutely love our Benjamin. We feel blessed for having him all these years. You have to know him personally to know what a truly special individual he is. Has having a child with special needs affected us financially and otherwise? Absolutely! When it comes to my wife’s family history ….. do we regret the fact that we didn’t consider the genetic predisposition that existed more fully?  Benjamin’s life was meant to be part of ours. He knows that he is loved and we have never regretted having him. He knows that he is special and having him with us has been a special experience. I am a father to three boys. Rather, three grown men. Being Benjamin’s daddy is part of who I am as a person. He is a big part of my identity. I always like to say that the love that I have for my son with special needs has lent itself to the love that I have for those that battle. This is absolutely true. Following kids that battle rare diseases has changed my life and my way of thinking. The sensitivity that I now have for these very special warriors began once I was made aware of the journey of one little girl. I have always loved kids with special needs because of Benjamin. Falling for the kids that battle rare diseases was just a natural fit for me. They truly do melt a person's heart when we choose to take notice. My life is richer because of the experience of following these children and I can’t help but to share the experience with others. I do that through my writing about them. When the time was right, being Benjamin’s daddy and moving through a trail of events opened up a different kind of world. This experience was meant for me. I have a mom in mind as I write this. She also feels that it was meant for her to experience much of what she is going through as a parent. Her daughter’s life did not come about by accident. Rather, both mom and daughter were meant to experience the kind of love that exists between them. The following is my attempt to tell their story, even if only in part. Searching for a Beginning  Mandy's HS Senior pic. So many girls would have been thinking about being a mom as they considered their plans for the future. At that time in a girls life, Amanda’s plans didn’t include parenting. She had been through more than most girls her age and therefore, she had never given having her own family much thought. Even so, Mandy Sinard had been career minded as she thought about her future. Certainly, somewhere in the recesses of her mind was the knowledge that she may be a mom someday. However, she was just getting started in life as she stepped out on her own at age 18. These days, Mandy is the proud mother of two children and much has taken place between then and now. Even from a distance away and in a short period of time, I have grown in my appreciation for Mandy as a person. She has exhibited the character traits that are possessed by the moms that have been a part of the stories that I have written. She has shown strength and determination, in part because that was the only choice that she had. In everything, she has exhibited a type of love that we have seen in other rare parents. A love that is profound and undying is being revealed through her actions. Mandy’s view of herself may be considered a little more reserved or even self-deprecating. In a chat that we had one day, she referred to herself as kind of ditzy and even a mess. She explained, “I'm that friend who always locks my keys in the car and forgets something at the store. I don’t buy cards or gift bags for gifts. I forget dates and I'm always late .... Everyday that I live is unplanned and late. I'm just a mess lol. Somehow I keep up. I've always been this way. I struggled with it in my early 30s but now I realize it's just who I am.” My opinion concerning Mandy would be a little more charitable. I see her as being a person that is strong in character. Her determination has been forged out of difficult circumstances and a will to survive what life has brought her way. She knows that she is not perfect and that she has made mistakes (we all have), but she doesn’t let that get her down. Mandy reveals through her own words that she has faith in God that is growing. She believes that what she has been through is being used to carry out his plan for her. Mandy is a person who possesses a good measure of humility and proper self-perception. She can laugh at herself a bit while doing what needs to get done in a responsible way. I’ve jumped ahead a little bit in order to set the stage ... so to speak. This story starts with Mandy’s beginning as an adult and it takes us through an experience that she never could have expected. Let’s get started. Just like with most stories about a family, this one begins with two people that meet and fall in love. That’s what would happen with Mandy as she set out in the beginning and met a man named Tony. The two of them would meet in south Georgia. Mandy was working at the time and was waiting to begin college. A person’s plans are often altered when they meet someone unexpectedly and that was what would take place. The two of them would begin what would be an almost ten year relationship. They would never marry but as Mandy would explain, they just “felt married” after being together for so long.  Little Hayden and his mama! They had a good life together but unfortunately, Mandy and Tony’s relationship would break down. They would eventually grow apart and separate. She still refers to her former boyfriend as being a good man and somebody that she will always love. As we have already stated, Mandy’s plans had not included children but at age 20, she had become pregnant unexpectedly. Mandy’s pregnancy would progress normally as the big day would take place. Again, her plans would be altered by the fact that she would soon be a mom. The experience of carrying your first child would change almost any woman and this event would be a life changing event for Mandy. She would give birth to her first child, a baby boy, in Fort Oglethorpe, Georgia on the 29th of August in 2002. Tony and Mandy would name their newborn son Hayden Paul. He was born a perfect little man, having all of his fingers and toes and being covered in brand new baby skin. Even with not being part of the plan initially, this baby boy would be so loved from the very beginning. The occasion of his birth was one that brought great joy to the entire family. Hayden would be the first grandchild and the only one for 7 years. Mandy shares a little about her newfound joy of parenting with this, “I was so happy to be a mom and I didn't let anyone really hold him, lol. He didn't stay with my mom until he was a year old! I redid his nursery every time his dad got a pay raise. He actually had learning centers in his room. He was doted on and loved so much.” Mandy would refer to Hayden as being rotten at times. I think that means that the little guy was a bit of a strong willed child. She would go on to say, “He was the worst when he was 3 years old. That's why we didn't have more…”. The challenges with Hayden were accepted as necessary. One thing Mandy would discover through the experience of having Hayden in her life was that she LOVED being a mom. Even though the relationship between Tony and Mandy had broken down, something good had come of it. That would be having Hayden in Mandy’s life. The amount of love that she has for her son is great and it is one that will never fail. In the following, Mandy describes what she sees in Hayden, “My son is absolutely dreamy. He's everything you want in a child. He has the smarts and athletic abilities. He is just a dream come true.” There would be a source of heartbreak connected to Hayden as life continued. When two people part company and have children, this presents a problem. Which house does the child go to? At age 13, Hayden chose to go live with his dad and this left Mandy all alone. As she would describe that experience, Mandy would state that she found herself being “completely lost in life”. As she would put things to me, Mandy dealt with her loss by throwing herself into her work and into attending college where she studied for a career in social work. She rarely dated, and instead devoted herself to her career goals. Things would change in 2015 when she met a man named Scott. Again, Mandy found a man that she loved and the two of them would be engaged to be married. However, the relationship would last only three years. People don’t always understand that the number one quality in a long term relationship is more commitment than it is love. Mandy stated her feelings about Scott saying that she felt that Scott loved her as a person but that he wasn’t in love with her. So again, after three years, Mandy found herself being alone. And again, she found solace in her work as she settled into a position as a medical receptionist. In fact, she worked long hours, oftentimes working for others as they went on vacation. Having this kind of schedule helped Mandy to keep her sanity and to find sleep at night. Once again, being broken hearted, the furthest thing from her thinking was getting involved in another relationship. She just wanted to work and sort out her life for a while. However, like having her son Hayden, the events that would follow would have a profound impact on Mandy’s life and the course that it would take. Let me pause to emphasize the fact that things don’t always go according to our plans. Sometimes, circumstances that we could not foresee take place and they have a profound impact on our lives. Let me tell you that this writer will have been married to the same girl for 40 years this December. That kind of thing takes place less and less as time continues. For a lot of people, it takes a while to find that person who will be their life partner and so, things often happen along the way. A Life Changed  Meant to be! Sometimes, the things that happen are those that we would consider to be mistakes. However, even those things can be used to shape our lives and who we are as a person. These are the things that often have a profound effect on us. With this in mind, let me tell you that Mandy would meet a man over social media and she would begin a relationship with him. They both had mutual friends and made the connection because of that. Again, Mandy had no intention of starting another relationship. She was still heartbroken over the fact that her engagement had been broken. On top of this, she had plans to move North in order to be closer to her son Hayden. It just happened that this person was relentless in pursuing her and he wanted to date Mandy. He seemed to be nice and at the time, the situation felt right. Mandy never saw a future with him but also never sized him up for what he was. She blames herself to this day, feeling that she should have known better. They would date for four months and you may be able to guess what would happen next. Mandy would conceive and would be expecting a child. It would soon follow that her baby’s father would choose to be absent from the situation. From the very start to be exact. Mandy would be alone and pregnant. She was embarrassed and would find herself being depressed most of the pregnancy. At the time, she had no idea how the life inside of her would impact her existence. She could not know how this child would help her to grow as a person, nor the type of love that she was about to experience. Mandy did what you would expect from her at this point. She worked extremely hard and for long hours. This while planning for the event that would be the birth of her next child. She was on a mission to provide everything that would be needed for a newborn and beyond. She would do this even though there were complications with her own health during this time. Mandy’s blood pressure would be high during her pregnancy and her blood sugar would increase to levels seen by a true diabetic. Being a single parent was not something that Mandy had ever experienced and the thought terrified her. She explained, “I tried to get excited but all I could think of was how hard it was going to be on me.” This was her thinking without knowing just how big of a challenge it was that she was about to face. Sometimes, all that you can do is to put one foot in front of the other and move forward. That is what Mandy did. Even with the challenges that normal gestation brings, and the health concerns that existed for Mandy, her pregnancy would move along. She was going to be a mom once again and not just any kind of mom. The doctor would decide that it was best to schedule Mandy for C-section. Her baby was expected to be 13 pounds in weight and delivering a baby that size ... well, would be difficult. The day would finally arrive and that day was Sunday, the 13th of January in 2019. While the new bundle was expected to be a really big baby, Mandy’s brand new baby girl would be born at a weight of 9 pounds. She was 21 inches in length. All of that which Mandy had been through with the pregnancy and the fears that she had dealt with. All of that faded as she looked at her beautiful baby girl for the first time. Mandy shares, “When I held her for the first time I fell in love. Of course ... I knew I would”. Mandy said that the beauty that she had seen in her newborn daughter was at that moment taking her breath away. Her baby had all of her fingers and toes and she had hair down to her shoulders. Dark hair! This little girl’s existence in this young mom’s life was meant to be. All at once a bond that had existed before her daughter was born was now as strong as any bond could be. Mandy would name her daughter Charlie Grace. She was beautiful from the very start but there were also some things that were noticed by Mandy. As Mandy stated to me, “...something was wrong with my baby. I knew right away ... I saw Charlie's features but wanted to deny it so badly. Her eyes looked like that of an old soul.” Mandy could see cloudiness in her baby’s eyes. Holding her, she noticed that Charlie Grace had a small bump on her spine and her little hands were different as well. They were curved. In the depth of her heart, Mandy knew something. The doctors would monitor Charlie as they normally would a newborn but there was also a concern over Charlie’s heart. The doctors would term it as being heart failure because her tiny heart was not operating as it should. An echo-cardiogram had been ordered and the findings brought some concern. There was a valve on the left side of Charlie’s heart that was leaking. Call it a mother’s intuition, or whatever you will, but Mandy had been concerned. She believed that there might be a problem with her baby’s heart as she was carrying Charlie in the womb. When being checked out by an ultrasound technician, Mandy had been assured that her baby’s heart looked healthy. Sure enough though, Charlie would be diagnosed with unexplained heart failure right after her birth. The change of emotions that must have occurred in Mandy over such a short period of time. All of the concerns over being a single mother faded as her gaze became fixed upon her newborn daughter. But then, there were things that Mandy had noticed and there was the issue with Charlie’s heart. Although the condition was something that needed to be monitored, it was felt that it was something that shouldn’t keep mother and child at the hospital. They were discharged a couple of days later with instructions for things that Mandy needed to keep an eye on. Things like watching Charlie’s breathing and keeping watch for the presence of blue coloring in her lips. Charlie had looked great upon leaving but her condition had worsened during a two day follow-up. She was prescribed two types of medication for her heart and Mandy was informed that Charlie would need to be hospitalized if the situation worsened. Thankfully, Charlie’s condition did not worsen but rather stayed the same and she was able to avoid being hospitalized. Never once during Mandy’s pregnancy had she considered the fact that this baby could be affected by anything that was related to her family’s medical history. What about the things that Mandy had seen as she had first looked at her newborn daughter? Had the doctors also seen something in Charlie’s physical features? Part of Charlie Grace’s regular newborn screening had been to test her for a condition called MPS. This is the abbreviation for the clinical name of Mucopolysaccharidosis. Why was this testing of significance? Mandy had never considered that MPS could be a factor as she carried her unborn daughter. Most people would not even know what MPS is as it is considered to be a rare disease. Mandy did have some knowledge of it because there had been a person in her family history with the disorder. Not just any person but her Aunt Christine. In fact, Amanda had been named Amanda Chrisitne after her mom’s sister. Unknown, at the time, was that Aunt Christen had MPS1, also known as Hurler Syndrome. Christine died at the age of only 6 years old in 1971 of what was only known as a storage disease. Amanda spoke of her Aunt Christine to her friends when she was young and she will tell you that this now haunts her at times. With Charlie, it is as if Christine “was back and looking at another chance at life”. With this, I may be getting a little ahead of myself as I write the story. Charlie’s newborn screening had come back showing that further testing needed to take place in regards to the presence of MPS. Mandy would obviously be concerned. This as she took Charlie to the hospital in order to have the retest performed. Mandy’s hope was that Charlie Grace would be found to just be a carrier of the defective gene that causes the disease. So Very Rare  SO very special! Hurler Syndrome appears in one of every 100,000 births. Rarely, will it be found in the same family twice. This is because both parents have to be carriers of the same defective gene. Even so, deep down inside, Mandy had the feeling that Charlie would test positive for Hurler Syndrome. She explains, “Once I got the call that Charlie would need to retest, we knew. I saw her physical features and I was in a fog.” Mandy would take Charlie for the retest, all the while doing so with the great concern. Charlie Grace was her newborn baby girl and the bond that existed between the two of them was already like none other. Charlie was an exceptionally beautiful little girl from the start. The physical characteristics of Hurler Syndrome would not be able to hide that fact. For Mandy, the anxiety over being a single parent was about to grow greater with the news that her little girl would battle for her life. The stuff that Mandy was made of would soon be tested but first, the results of the testing would come. Mandy explains her reaction and the resolve that would follow as she received confirmation, “I fell to the floor when the results came. I googled and thought she would be the worst case. I just didn't know what to think. I clinged to hope and focused on saving her.” Remember, Mandy’s Aunt Christine lived to only the age of 6 years. The news that Charlie Grace had Hurler Syndrome came when she was just 3 weeks old. Mandy cried for her newborn daughter but her resolve to help her baby was instantaneous. Charlie Grace was hers and Mandy had to do everything in her power to save her. What was Charlie facing?  A mother's love! As mentioned earlier, Hurler Syndrome is part of a larger group of disorders that fall under the clinical name Mucopolysaccharidoses or MPS. Hurler Syndrome (MPS1) also fits into an even larger category of diseases that are called Lysosomal Storage Disorders (or Storage Disorders). I’ll keep things at my level of understanding for the sake of explanation. Lysosomes are a part of the cells in the human body that contain digestive enzymes. These enzymes are used to break down wastes within the cells of our bodies. If anyone of these essential enzymes is missing, the wastes that the enzyme is responsible for breaking down are instead stored in the cells. The science is fascinating but the results of this deficiency is devastating to the outcome of a person’s life. The end result is that these wastes are built up in the body and that cause severe damage over time. In little Charlie and in the cases of other children, having Hurler can affect the brain, the heart, and other internal organs. Cognitive decline will be something that is very noticeable to the loved ones of these children. The sooner intervention takes place on behalf of the child, the better the chance that abilities in this area will be maintained. Mandy knew what the future held and she had to save her daughter. Everything that she was about to go through on behalf of her daughter was about to be another source of character building. This was in addition to the life struggles that she had already faced. The title of this story, Not By Accident, really originates from Mandy’s beliefs concerning the advent of her daughter’s life. All of the stories that I have written are about kids that battle rare disease. Even though there could be many known cases of each type of rare disease, the numbers are small when compared to the total number of children in the population. Did you catch the number, as stated earlier, for Charlie’s type of Hurler Syndrome? One case in every 100,000 births. That’s rare enough but this is even more so in Charlie’s case. Rarely will the disorder be duplicated in a family like Mandy’s. The disease skipped a generation because both parents will have to be carriers of the same defective gene for it to show up more than once (This, although one set of parents can have more that one child with Hurler Syndrome). In Mandy’s case, she could be a carrier of the defective mutation of the gene that causes Hurler Syndrome but she would have to meet someone that carried the same exact genetic sequence. How rare of an occurrence would that be. Charlie’s father entered Mandy’s life and was gone a few months later. Mandy had no intention of being involved in a relationship at that time but she was pursued by Charlie’s father. She was in the process of healing from a failed engagement and being involved with another man was the furthest thing from her mind. Mandy’s belief that Charlie’s life was meant to be has some merit to it. In fact, one could make a case that this little girl’s life is by design. Mandy stated, “I actually believe that I met Scott so I could meet Charlie's Dad. I would have never had mutual friends had I not met Scott years before. He (Charlie’s father) was from a small town I had never even heard of. It was over on the other side of the mountain between us.” Mandy and her fiance’ had tried to have a child together but they were never able to. Mandy continues, “It just wasn't meant to be but Charlie’s father and I share the exact same genetic sequence of the defective gene for MPS. Charlie is just so rare, there's no way to deny she is meant to be .... It all makes perfect sense to me.” The purposes for this little girl being brought into this young mom’s life is now being played out. In fact, much has taken place already. Whatever course Mandy’s life will take, Charlie’s life will be an integral part of it. This story was meant to take place. Again though, I may be getting ahead of myself as I write so let’s continue. Knowing that her Aunt Christine had lived to only the age of 6 years, Mandy could only think the worst but she was not about to let that stop her from taking action. Finances, or lack thereof, would not get in this mom’s way as she flew into action. Feeling deep down that her baby girl may be affected, Mandy did everything that you could to have the retest for MPS moved along. She shares what she did and also what the end result was, “I pushed the timing of the results by harassing them and soon found myself on the floor screaming.” The testing would, in fact, reveal that Charlie had MPS1, Hurler Syndrome. Prepared for what the truth may be, Mandy was still completely distraught over the news. There had been that glimmer of hope that the test results would come back negative. Any hope for that was now gone. Stories about rare families will usually contain similar responses and they will reveal a type of transformation that takes place. What will begin with complete despondency over the news received will end with the will to move forward and to fight the battle that has been waged. Mandy would soon wake one morning to see a comment on her Facebook page that would energize her and cause her to take further action. As stated by Mandy, “It was a fellow Hurler Mom named Jill. She said, ‘Lay on the floor crying, screaming and lay there for a week if you have to but you then get back up and you fight for your daughter.’ That's all it took. I washed my face, made a cup of coffee and I called…” Along the way, Mandy would go into full research mode, learning about the disease and also about the methods of treatment. She wanted to learn everything that she could. Her baby was only weeks old at the time of the diagnosis. Mandy would soon learn what a nightmare it can be to deal with the medical community and insurance companies as well when you have a child with special needs. Immediately, she had found the people that make up the Hurler Syndrome community over social media. Mandy would learn about things such as Enzyme Replacement Therapy and Bone Marrow Transplants. The Battle for Charlie Grace  Precious warrior! The first, being ERT, was a way to deliver a substitute for the enzyme that Charlie’s body was missing. The second procedure, known as BMT, would allow Charlie’s body to produce the missing enzyme on it’s own. Enzyme replacement is used between the diagnosis and the transplant to preserve pre-transplant condition in the child. Mandy said that she was thankful to God for the Hurler moms that would direct her to the top three hospitals in the nation for having Bone Marrow Transplants performed. She would learn that having a BMT performed would be the best thing for Charlie’s longevity and for her quality of life. Through all of this, she had learned that Dr. Davies at Cincinnati Children’s Hospital was her best hope for a successful transplant and that is where she had made the call to. Mandy used these words to describe what happened as she called, “She (the doctor) took my call immediately. I told her that I heard, she was the best and that I needed her to save my daughter. She agreed and it was set. I knew where we had to be and what we had to do.” What would start to take place as they hung up that phone was that the actions of a single mom would begin to reveal something that can’t be denied. The bond between Mandy and Charlie Grace was so strong and the love that was present was like none other. A bond between a mother and her infant daughter … a daughter that had great need. It wouldn’t happen overnight but Mandy’s thought processes began to work out a plan of action. She had to somehow get her daughter to Ohio in order to give her the very best chance for success. This is a situation that had to be worked out by Mandy and it would be! There was much that would need to take place but nothing would stop this mom from accomplishing her objective. Almost right away, Charlie would begin to receive enzyme replacement therapy. She would receive her central line for infusions at 28 days after her birth and she would receive her first treatment a couple of days later. Mandy had been a very busy mommy in that first month. BMT does not normally take place until the child is 3 to 4 months of age and Mandy had used all of her maternity leave. That meant that even with all that was going on, she had to put her scrubs back on and return to work. On top of figuring out how to get to Ohio in the first place, she also had the details of the move and of getting their belongings into storage. Life was chaotic but this life named Charlie Grace now pushed Mandy to give it everything that she had. She shares what life was like with the following, “I worked 12 hours shifts. In between Patients and paperwork, I made and received phone calls. I scheduled Charlie's very first surgery to have a central line placed in order for her to receive enzyme replacement therapy. On my day off I bundled her up and left at dark to travel for ERT and we came home at dark. After 12 hours of exhausting shifts I picked my baby up from my Mom's. I brought her home, washed her, and flushed her central line myself. Then we went to bed and it was a rinse and repeat.” What Mandy had to say next was incredibly moving to me.  Maternal bond and more! This would take place as the long days would end and it was finally time to lay down for a few hours of rest. Mandy speaks about what she had been feeling as she looked at her beautiful little girl, “I’d lay in bed, soaking in her beauty. It was obvious early on that she was not of this world. She was a Mama's girl right away. She cried for me while I worked but she was just fine in my arms though. She was made for me…” and in fact, it was true. Charlie Grace was made specifically for Mandy and she would find a way. Mandy knew that the only way possible for her to get Charlie to Ohio was to leave her job while away. The result would be that she would be at the mercy of medicaid for Charlie’s insurance. As one might expect, it would be doubtful that they would pay for the BMT if it was performed out of state. The entire thing would be a hard fight for Charlie but in the end, Mandy would prevail. Mandy shared, “I didn't have time to keep beating a dead horse. I stayed up super late for nights in a row. All the while working, doing weekly ERT, and trying to figure it all out. How to stay afloat and accept all this craziness.” Mandy would interview two doctors at two different hospitals in Nashville. Both had been given as options by medicaid but Mandy felt the experience for treating her daughter was waiting for them at Children’s Hospital. She had already met with the people who she felt were the best and that took place with the team in Ohio. The entire situation would be a struggle but the outcome would be just what Mandy had hoped for. Her hard work and research would end in Ohio Medicaid paying for Charlie’s medical expenses. The move was on! Mandy said that her family had hoped that she would have the transplant done locally. This was so that they could visit more and also so that she could keep her little apartment. However, the most important consideration in all of this was Charlie and Mandy just felt that her daughter’s chances for survival were better up North. She simply packed her bags and left with Charlie. Mandy’s 2000 Toyota Avalon was stuffed to the gills. Here is more of what she would relay to me, “I couldn't see out of any windows except the one in front of me and the one next to me. It was kind of funny because that's the only view I needed. I had $160 and no idea if our old car "Ruby Girl" would even make it. But no doubt was stopping us” …. “I knew I had to get Charlie to Cincinnati. After two failed attempts to get Tennessee Medicaid on board I packed up our old car that had 300,000 miles on it and headed North. I never looked back. I couldn't. I didn't even know if Charlie would survive transplant” What exactly is it that happens during a bone marrow transplant and why can they be so traumatic? I’m learning as I go along but I’ll try to explain as best that I can with a little help. BMT, or bone marrow transplant, replaces the blood-forming cells (stem cells) that are missing the important protein with healthy ones. With healthy blood-forming cells, the body will break down the waste that was building up (the missing enzyme is now being produced). This keeps the organs from being damaged further. This will also help to better preserve existing cognitive function. The type of BMT that is used for Hurler Syndrome is what is called an Allogeneic transplant. The healthy cells that are transplanted come from a donor, family member or a matching person, or through umbilical cord blood. The first step in the process involves chemo-therapy to kill the unhealthy cells before transplant of the good ones. You can only imagine how this would make a little person feel as a result of receiving chemo-therapy. After this, the healthy cells are given to the child through a central line, or IV catheter. The new cells travel to the inside of the bones in order to begin to make healthy blood cells. The success of this is called engraftment. Things like infection, anemia, and bleeding are complications that can set in. Organ damage is possible as a result of the transplant and the survival rate is in the range of 80 percent. This can leave parents with an uneasy feeling for sure but the process is the best hope for early intervention in slowing the progress of Hurler Syndrome. Most all babies that are otherwise healthy will come through the procedure just fine but there is always that tension created by the what ifs. Whatever the risks were that were involved, Mandy was on a mission. It was to give Charlie the best life possible. Life had become a whirlwind of events and she had no doubt been taxed mentally. Not only was there the stress over the procedure but there was also concern over what would await them once they returned home. Mandy explains both her thinking and the resolve that she had developed, “I couldn't even begin to imagine the hardship after returning home. Coming home from the transplant and needing a place to stay with no money and no job. Even so, I couldn't see past getting to Ohio for this life saving thing anyways. I tucked away that stress because I was on a mission to save Charlie Grace. I didn't care if we lived in a cardboard box as long as she was alive.” A Determined Love  The dreaded luggage! It would be in the Winter of 2019 that Mandy would arrive in Cincinnati with Charlie Grace. They had vey little money and they were in great need. Mandy was so thankful to learn that the Bone Marrow Foundation had provided her and Charlie with the use of an Air Bed and Breakfast while Charlie was undergoing preliminary testing. The goal there was to determine whether or not Charlie’s organs were strong enough to endure the transplant. Think about a single mom with no help and a baby to care for, trying to move luggage around without any help. That is what Mandy would have to do with every move to a new place or facility. With her own words left intact, “I soon found out that getting a baby inside our apartment AND all of our luggage was harder than I thought. For some reason, out of all that I had already had to do for these past months, the luggage was the hardest. I cried ... I finally just cried and cried. That damn luggage was heavy and the damn stairs were so steep.” Sometimes, a good cry is what we need to release our emotions so that we can carry on and that is what Mandy would do. She would carry on, again doing the best that she could in all things. Her and Charlie were now alone in a strange place and there was a lot of adjusting to undergo in these new surroundings. Mandy said that she would find a groove to fall into as she became more familiar with the hospital and while attending each appointment. As a result, she would become more at ease with everything and she would be encouraged by this. Sometimes, it seems that Murphy’s Law will enter most every situation. As Mandy would become more settled inside herself, she would receive a call that would change things. For some reason, the donor for the bone marrow could not complete the process and would back out for personal reasons. How could that be? Mandy would be tested further as a result and the search for a new donor would begin. It would only take a few months to find another donor but by that time, the funding for Charlie and Mandy’s lodging would be due to run out. Again and again, Mandy would have to move the luggage around as they would stay in the both the Ronald McDonald House for a time and then, a Hotel. In her own words, “it was exhausting”. Not being able to stay in one place was really difficult but they did it! Things would change on May the 6th of 2019. They had found that wonderful person who would serve as a donor and as a result, they would be admitted to the hospital. Mandy shared what she was feeling as her and Charlie found their way to their hospital room. I’m sharing it with you here, “I still remember walking into A16 and just standing there ... I had a lump in my throat and tears stung my eyes. I was sad for me. I was sad because I didn't have to be alone but I was. Most families ditch jobs, homes, and sometimes everything to have at least one person there to help. I had none, I was alone. I felt so small. I knew my child was going to death's door and I couldn't promise it wouldn't open and take her …. I didn't know if I would ever leave with her. It was real.” These words were not an indictment against Mandy’s friends or family. They were just not of the means or the ability to accompany her and Mandy had made the decision to have the procedure done out of state. This left her alone to carry everything out after the decision. This was in Charlie’s best interest and Mandy’s actions had become an example of a type of sacrificial love. This is Charlie Grace that we are talking about. Mandy continued, “All that I had fought so hard for. That exact room in that exact city and hospital … I was finally holding my baby in that place and all that I could do was to be sad.” Even with this, Mandy would do what needed to be done. She just put one foot in front of the other each day. Mandy put baby Charlie in the metal hospital crib, covered her daughter and unpacked the luggage. She took great care with each one of Charlie’s outfits, matching each one as she put things away. Mandy shared, “I refolded her matching blankets and I put toys in her crib for her. I set up our little home with hope and lots and lots of prayer.” It hasn’t been that long ago now but even if it had been, Mandy would still remember the date. It was transplant day, May the 24th, of 2019. In everything, the chemo-therapy, the placement of the central line, and the BMT itself, Charlie had and would sail through it all. But not Mandy. The entire experience would be a traumatic one for her. The fear over losing Charlie petrified Mandy. Some might think of this as having been needless worry. It needs to be kept in mind though, some children will not make it through without complications.  So adorable! Mandy shared, “The fear of her dying any minute consumed me. I suffered mentally so badly that I lost all memory. It was short term memory loss but it was very severe.” Thankfully, Charlie would do very well. She would be monitored in her hospital room to make sure she was stable and had come through the BMT without complication. Once all of this took place, it would be time to move again. Dr. Davies and the social worker handling Charlie’s stay came alone to the room. They informed Mandy that it was time for her and Charlie to move to the Ronald McDonald House. Mandy was not at all ready for this. She stated that she was afraid that she would forget how to take care of Charlie and she dreaded having to move the luggage again. Even with this, Mandy did what needed to be done. She packed and moved. The stay at Ronald McDonald would come and go without any major events taking place and it would be time to go home again. The entire experience had been so trying on Mandy but she did what she felt that she had to. While their lodging had been payed for during the stay in Ohio, there were many other needs. These were met by the caring people that followed this part of their journey on Facebook. Mandy would post about a need and people would act graciously by making the purchase. It would be good to make it home again but it would take Mandy a while to adjust to a normal existence again. Mandy explains, “I hung up lists, set alarms, and I walked through the thick fog I seemed to be in. I was happy, my baby was happy, I just had this thick fog around me.” Mandy said that she never knew the day or the time for a while but she would make it through. She was on top of giving Charlie her meds and they continued with Charlie’s therapies. Charlie was always the number one priority and Mandy was always there for her daughter. This, even if it took her a while to return to a normal frame of mind. We would all have to walk a mile in Mandy’s shoes to know why she had been so greatly affected. She guessed that it took about a year for things to stabilize. It was time to start living the life of a parent with a child who has special needs. Charlie still had a disease that was fatal but she now had the best opportunity to live as normal of a life as was possible. That was if the engraftment of the BMT was strong and she started to produce the enzyme that her body had been missing. Engraftment takes place when the blood-forming cells that are received at transplant start to grow and make healthy blood cells. There are always challenges that would come, even if everything would have gone well with Charlie’s post procedure engraftment. However, with increasing concern over the months that would follow, Mandy would watch as the percentage of engraftment dropped from 100%. She would actually keep track of the numbers and would find that the engraftment was dropping by about 4% per month. That would be alarming to any parent but the doctors would assure Mandy that things would level out. They also assure her that Charlie Grace did not need 100% engraftment to produce the enzyme that she needed. A Chance at Life After all that Mandy had been through, and all that she had done to get to Ohio with Charlie, you could certainly understand how she might feel. Her big concern was that the transplant may need to be repeated at some point in the near future. After all that she had been through to have the first one done, going through it all over again was something that would be painful to even think about. Here is some of what Mandy had to say about what she was thinking, “I kept having visions of times that people mentioned a 2nd transplant but never in reference to Charlie. For example a Nurse told me to ‘be thankful you don't have to do this twice …. there are moms who have done this twice!’ And another Hurler mom told me to just be glad I didn't have to do this twice because she had with her daughter.” Mandy kept hearing comments about a 2nd transplant. Even though this didn’t sit well with her, she wondered what the future would hold for her and Charlie. For a year, she would receive news about the decreasing levels of Charlie’s engraftment. This while wanting the assurance that her body was making the enzyme that she needed. Mandy said that she would grow tired of the entire thing and she quit calling for a while. Then it would dawn on her to ask about the level of the enzyme that Charlie’s body was supposed to be making. Mandy wanted this to be tested. Afterall, this was the purpose of the BMT. Charlie’s body needed to start producing the enzyme that had been missing. The one that was responsible for ridding the cells in her body of the wastes that were instead collecting.  Under the weather but battling! Here is how Mandy put it to me, “So I asked for what made complete sense. I wanted her enzyme level tested. She was born without this enzyme and we transplanted her to make this enzyme .... and even though her engraftment was dropping I was assured she was making enough of this enzyme. So, show me!” The response that she would receive was, “Well, we don't test for enzymes after transplant.” In the notes that Mandy had sent me, she included the word “crickets” at the end of the response that she received. I hope that you won’t mind my divergence from the story but this writer has never heard the word crickets used in this way. I looked it up and this is what I found, “Derived from the cinematic metaphor of chirping crickets at night, signaling (otherwise) complete quiet.” In other words, Mandy was completely bewildered by this, leaving her in complete silence. Other than the crickets of course. I’ll keep the rest of what Mandy had to say between her and myself (humor intended). She would, of course, insist on this testing taking place, to which this would be agreed to. There were no guarantees made however, as this was not something that had been done previously. Mandy would experience a myriad of emotions through all of this, with the most prominent one being anger. In the end, the testing would take place and the result would not be favorable. After learning how to read the results of the testing, Mandy would determine that Charlie’s body was only producing about one percent of the level needed. That meant that the Hurler Syndrome was almost completely free to continue to wreak havoc on Charlie’s little body. This would include damage to her internal organs and continued cognitive decline. As previously stated, Mandy would watch month after month as the percentage of the engraftment continued to drop. The end result would be about 32% engraftment with Charlie’s body making next to none of the enzyme that was needed. This was nobody’s fault. The first transplant had gone well and there was nothing unusual that took place. This was just the way that things would turn out. Mandy’s fears about Charlie needing a 2nd transplant would become a reality and that is what she would push for. She would approach Dr. Davies who would not be immediately on board with the idea. After all, what if Charlie’s body began to produce the enzyme in higher levels at a later date? How would her tiny body tolerate having a 2nd transplant performed? There were risks involved. Mandy would request that the doctor consult with another physician who specializes in children with MPS1, to which she agreed. Mandy stated that she would receive a call back a day later. The doctor agreed to do a 2nd transplant. Mandy had gotten what she wanted but could not believe that she was about to put her daughter through the process again. Here is the way that she put her feelings to me as she began to question herself, “Omg, here we go again .... here we go, only this time, it's all on me.” Mandy continued, “I'm the one putting Charlie back at death's door. Is it worth it? Does God not want her engrafted because he wants her to be severe MPS? Because that's the way he made her? Do I put her through this just to make her what I think she should be? There was only one person who could answer these questions and it was God himself. He answered me. He told me he would take care of us again and pave the way and that's exactly what he would do.” Never as a writer do I force my own beliefs or opinions about faith and existence of a personal God on any of the stories that I write. However, these are Mandy’s own words which express her own way of handling what life had brought her way. Mandy felt, deep down inside, that this was the right decision based on what she knew. Her thoughts were continued in another place with the following, “I was terrified and disgusted with myself. I left it scheduled but in my mind I left it open to change my mind. I fell at the feet of Jesus because he knew I would still love Charlie on a ventilator and unable to walk or talk. I would love her even more and I would be happy to have her still. But I knew in my heart she had a real chance at this life. I just knew it.” To some, the decision would simply be what one would call a “no brainer” or a common sense decision. Charlie Grace was still in need of the best possible chance at a near normal existence. The post that had been previously done by Mandy on Facebook would tell all of us the story as things developed.  What wouldn't you do? The first transplant was known to have been ineffective as the year 2020 was moving towards closure. Preparations both mentally and otherwise began to be put in place for Charlie to undergo a 2nd transplant. Mandy stated that she had just followed her mama’s instincts in wanting another transplant performed. She did so even though she was advised otherwise by some in the Hurler community. This was her daughter and she was on a mission to preserve Charlie’s cognitive abilities. She had seen her daughter declining right before her own eyes as Charlie had stopped talking altogether. Others had tried to talk Mandy out of another transplant for Charlie because either way, her condition is terminal. However, Mandy had visualized Charlie enjoying a near normal life, seeing Charlie “older and smart. Playing ball and going to school like other kids.” And still, she realized this would be her last push to do everything possible for her daughter. Whatever the outcome, she would love Charlie and the life that they were given together. She would be at peace, knowing that she had done everything that she could. Mandy looked forward to completing this final step as she used these words, “Now (after completing the 2nd transplant) all I have to do is love her and give her the best life that is full of laughter. It's not that simple but it is. I refuse to be riddled with what ifs. Charlie has MPS1.” Holding Nothing Back  Tiny warrior princess! Again, Mandy continued, “She has Hurler Syndrome and she will be different than healthy kids. But she is Charlie and God gave her to me whole and perfect. Our journey may be difficult and different and unchosen but it's still life. She is alive and we are together. The beauty is unspeakable. These kids are the light. The closest to Jesus that we can become.” Just as it had been before, the way to Cincinnati and Children’s Hospital would be provided for Charlie Grace. Medicaid would again pay for Charlie’s transplant. Again, between the stay at the hospital and also at the Ronald Mcdonald house, their lodging would be free. This time around, Mandy knew the ropes, so to speak and this was familiar territory to her. Again though, she had to quit her job, pack their belongings in storage, and leave their rented dwelling place behind. While there, many Facebook friends would help to provide the needs that they had and the circumstances surrounding the 2nd transplant would be more cut and dry. Mandy would be more confident about the procedure this time, as well as, Charlie’s ability to survive all that she had to go through. Even with all of this in mind, it would still be difficult to watch little Charlie have to endure the process. Our hats off to all of those little cancer warriors out there that have to go through chemo-therapy. Charlie would undergo preliminary testing again and she would receive chemo for the 2nd time in her life. This, even though she wasn’t battling cancer. There was more enzyme replacement therapy to be done and there was the 2nd BMT. All of this taking place inside of a little person like Charlie. There would be many challenging days ahead for this little person and many days when she just wasn’t at her best. The day of the 2nd transplant was January the 21st of this year (2021). Many were the people praying for and supporting this mamma and darling child. Even with her curls gone, Charlie would continue to warm people's hearts. Perhaps even more so! Charlie is amazingly strong and she would recover, providing smiles and misbehaving at times. A true terrible two and her mom was okay with this. That is even with the challenges that Charlie would provide along the way during her recovery. Mandy’s desire would be a 100% engraftment, however, she will except whatever level of engraftment they receive this time around. In Mandy’s own words, “I will accept it even if she doesn't do so well. I just had to know I did what I could. Now I will work really hard with her and be her advocate in school and medically with her bone surgeries. Our fight isn't over but the biggest part is.” Mandy would tell me that it is almost unheard of for a child to go through two different BMTs without having to go to PICU. She said that one day, Dr. Davies shook her head as she stated that Charlie is as tough as Mandy. In turn, Mandy disagreed but the doctor reminded her that in all of this, Mandy had done everything for Charlie by herself. This almost put Mandy in tears.  A love like none other. We talk about how resilient these children are and it is a fact that they are that. They really are models of resilience but what about the parents? It’s amazing what they often put themselves through for their child. Most often, it takes more than most other parents will see as they raise their kids. Sometimes, it takes more than one might think possible. The saying goes something like this, “You never know how strong you can be until you have no other choice.” This is absolutely true. I have to tell you that as a person, we are really impressed with Mandy at this house. She was a little hesitant to give all of us so much detail concerning her life and how Charlie’s life came to be. This is because she feels that mistakes were made along the way. Well, all I can say to Mandy is join the club that we are all part of. We’ve all made mistakes. The way that she has grown as a person and the strength of character she has shown through all of this is exemplary. When the going gets tough, call Mandy. The way that she models her faith and her humility while also being real is something that both me and my wife took notice of. I mentioned at the beginning that I often joke that we wanted a girl but that we got a Benjamin instead as we were expecting our third child. This is actually true though. We wouldn’t have it any other way now but the fact is that we wanted a girl at the time. Benjamin who is now 31 is the youngest but our oldest son Daniel is just a year younger than Mandy.
Where am I going with this? Simply put, if we were to have had a girl, we would have been proud to have someone like Mandy for our daughter. This is also true. What about Charlie Grace? We love kids with special needs at this house. Also, we are at the age where people are most often grandparents. That will likely not happen for us. Speaking for myself, although my wife would agree, I absolutely love the kids that battle. Charlie is just a little doll baby. She is so full of personality and sass. A definite ray of sunshine. She can speak volumes without saying a word. Charlie Grace will always be the center of attention in whatever place she inhabits for as long as she is on this earth. When I say that these kids are the most special and the most amazing, it’s not just a simple catch phrase. It is the absolute truth and I am talking about kids like Charlie Grace. I look forward to following this little lady through every twist and turn for as long as she continues on her journey. She is just so special! I agree with Mandy. Charlie’s life is not by accident, the two of them were meant to be together. The things that Charlie will teach her mom will go hand in hand with that which Mandy will teach her daughter. Whatever means of help that there will be for Charlie, Mandy will find it! Mandy did a Facebook post as it was time to leave the Ronald McDonald House for the final time and I knew that there would be food for thought inside of it. Here is what she would say at the beginning of the post, “For 2-1/2 years I have fought for two transplants that will enable her to make the enzyme that she was born missing. I guess because I'm a single mom and getting this done was very challenging...” Mandy continued, “I have been so focused on getting her 100% engrafted with new bone marrow that I could put this truth away. I knew I would have to face the truth about MPS1 eventually.” In other words, this mom has done everything that is possible to help her little girl but the truth remains, Charlie is still in for a battle with MPS1. But there is one other thing. Simply put, Charlie Grace won’t be alone in her fight and there are special times ahead for mom and daughter. Mandy will do everything in her power to give Charlie the best and funnest life possible. Dance class, gymnastics, and softball. Why not think big? She states further down in her post, “Now we go home ... I will love her and teach her all I can. I will urge her to jump in mud puddles with her best dress on. I will not stress over small things. I will embrace and celebrate and love everything about her.” Left with the truth that she cannot completely save her daughter from a disease that is fatal, Mandy has to be satisfied with the fact that she has done everything that is possible. A love that is profound and undying. I often repeat myself in order to place emphasis on the things that are true. Mandy has demonstrated this type of love and that cannot be denied. Yes, there is beauty in this journey. That has been clearly demonstrated and this will continue to be seen. This story has not taken place by accident. It’s on display for all of us to see. That is if we pay attention. ~Greg Lopez~ Blogger and Advocate  What an amazing pic! “I couldn’t hear anything else after I heard the word “terminal”. No parent should ever hear that their child is dying! All my hopes and dreams for my little 4 year old were just crushed .... My heart broke in a million pieces that day. I remember running to the bathroom where I fell to my knees and just cried, drowning in my tears.” ~Jenn Fuller~ Victoria’s Mom and Advocate There is no way that I can know personally, however, I try my best to understand. The word empathy comes to mind. A true Empath is a highly sensitive individual. These people have an ability to sense what people around them are thinking and feeling. It’s like they are able to feel what others are experiencing. I don’t know that I fit into that category completely. It’s so easy to be self absorbed and to fail to be concerned about others. Yes, I do try my best to understand and this all started to take place after I first became aware. Aware of what you may ask? Well, it happens to be children that battle rare diseases. Children are by nature beautiful. Their little faces are yet unmarked by the worries and concerns that come our way as we travel through life. They look so innocent in their ways, even if a bit mischievous in their actions. Our hearts ache when we know that a child is battling through something that should be reserved for those of us that are aged. Things like dementia should not impact someone that is just starting their young life. Most people pay no attention to something like this unless it impacts their family directly. Most are not even aware when it comes to something like rare and fatal childhood disease. Sure, somewhere in the recesses of their minds is the reality that things like this exist. However, these types of things only have an impact on those that have to deal with them directly. That is unless people take the time to look beyond themselves and their own surroundings. And still, one needs to first, be made aware. My writing first began when I was made aware concerning a little girl who battled something called Batten disease. Following her life and legacy was an eye opener and it changed my life. The plight of these kids, as well as their parents and siblings, consumes my thinking. There are other subjects that I could write about, but no others can I write about with the same amount of passion. I have shared with people repeatedly concerning my own son who has special needs. For a long time now, I have had a sensitivity towards these special people. This is due to the connection that I feel with Benjamin. When the time was right, and this little girl with Batten came into my life, my world was changed and I began to write. What gets to me is the details. It is so very true that greater awareness towards rare diseases is important and that is part of the reason for the effort that I put forth. However, what really drives me is that I feel that I have this opportunity to tell others concerning the details. That is the details that tell others about the love that is poured out towards these children and the impact that they have on people. Obviously, there is always a certain amount of sacrifice involved in caring for those that can’t care for themselves. The task can bring with it a multitude of frustrations. My own son has taught me much about service and sacrificial love. However, what I see in parents of kids with rare and fatal diseases extends beyond anything that we have been through as a family.  We knew almost right away that we had a special case on our hands when it came to Benjamin. We also knew why that was. Things are different for the parents of a child with a disease that is rare and fatal. In their case, receiving the diagnosis for their child blindsides them. Who would ever consider the fact that something like that could happen? Who would have ever thought that a set of symptoms that had developed were part of something so terrible? The life that was once known, or imagined, is changed forever. All of a sudden, the joy of parenting becomes mixed with grief and heartache. The grieving process begins for someone that is still present and that someone is an innocent child. Loneliness and confusion are part of the initial shock but those things will soon give way. This happens as the family learns, they are not alone. Rather, they are part of a community that they previously knew nothing about. That community is there to lend its support and they become like family to the ones who now share in the experience. It seems like such a whirlwind of events has taken place as the puzzle pieces have worked their way together. That couple that once fell in love is now the parents of a child with a rare set of special needs. Life is different but it is still one that is worth living. Your purpose now, involves helping one that battles. That one is a most special son or daughter. There is now an opportunity to love in a way that was previously unknown. We are heading towards another story where a transformation of sorts takes place. Grief and despondency ultimately give way to a renewed strength and resolve to do the very best that can be done. This, in order to provide a type of love that is undying. This in turn, creates a bond that is stronger than any other. Things will be seen that are not experienced by most everyone and that is what makes these families so special. Difficulties that are “normal” are expected, but ones that are not become part of a life together in the case of these families. These stories are similar in many respects, although many of the details can be different. It is almost always the case that it all begins as two people meet and fall in love. The attraction is physical in the beginning. As time continues, thoughts of a future together start to enter a couple’s thinking. Sometimes, two people meet and they know right away. The person that they are with was meant specifically for them. Almost always, a life together involves raising a family. This next story is about a young couple from the great state of Florida. They met one another in the normal kind of way, finding each other during the normal course of life events. They would meet at work and would be attracted to each other. Nowhere in their thinking as they did meet, was the possibility that they would one day face a set of rare circumstances together. This would all take place as they became parents and this story is about the little family that they would become. Jenn Fuller first asked me about doing a story about her daughter near the time that Victoria had been diagnosed with Sanfilippo Syndrome. Sanfilippo is part of a broader group of diseases known as MPS (Mucopolysaccharidosis). Sanfilippo is also known as MPS III. Just like all of the forms of MPS (and Batten disease), Sanfilippo Syndrome is what is known as a lysosomal storage disorder. Without giving a lot of detail here, let’s just briefly explain these disorders. The human body uses enzymes to break down the wastes that are made in cells of a person’s body. This is especially important in the human brain. This process is dealt with in something that is called a lysosome. If one of these important enzymes is missing, the body stores up these wastes instead of breaking them down. This in turn, causes damage to the cells because the wastes remain in the lysosomes. Surprisingly, there are thousands of these types of disorders. Most people would never have knowledge of something like this unless it had impacted their life directly. The lives of the Fuller family have been impacted in a big way by Sanfilippo Syndrome. Jenn thought that participating in my blog about rare kids would be beneficial. It, however, took her a little while before she was in a place where she thought that she could share the details with me. I’m so glad that the time arrived and that I heard back from her. I am grateful that she had kept it in mind to work with me. I appreciate the opportunity to have their family’s story in this blog that is about kids that are rare and so very special. Let’s get started. Two People Meet  What an attractive couple! Jenn Moreno grew up in Hollywood, Florida and would eventually attend McArthur High school. Like so many young girls, her desires for her future included marriage and a family. You never know at what time or in what place that you will meet that special someone. Life continues on and when the time is right, things start to fall into place. That person that you are meant to be with crosses your path and your personal story of life and love starts to develop. In Jenn’s case, things would come together quite quickly. This would start to happen for her as she was beginning a new job at a Chili’s restaurant, there in her hometown. The year was 2005 in which Jenn would begin work there at Chili’s. She didn’t know it at the time, but it was during her orientation at work that she would meet the person that was meant for her. It was Jeff Fuller that would perform the orientation on that, her very first day at work. Jenn was immediately attracted to Jeff. In her own words, she thought that he was “cute”. The two of them would do well together, however things were not progressing at the speed that Jenn had desired them to. She would actually be the one that would ask Jeff out on their first date and Jeff, would of course say yes. The rest, as Jenn would say, “is history”. The couple really hit it off from the beginning and would become inseparable. Their relationship would only continue to grow as they thought about a future together. Jenn would tell me that they perhaps did things a little backwards for some people. However, this couple knew that their individual futures involved being together for a lifetime as husband and wife. That being said, it would be three years after they began to date that they would buy a house together in 2008. Their goal was to save money and fix up their home in preparation for their wedding and having children. They had a plan and they were putting it into action. It took a little while for the big proposal to take place but it would happen. The year was 2012 and the couple was vacationing at a favorite spot in Fort Myers, Florida. They were staying at a beach front hotel and this gave Jeff an opportunity to propose to Jenn in a way that was magical and that would provide a special memory for the both of them. In the sand below their balcony, Jeff wrote, “Will you Marry me?” He then told Jenn that there was something that he wanted her to see outside. Of course once seeing what Jeff had written, Jenn would accept his proposal. After all, marriage and a life together was what they had always had in mind. And so it was that they would become man and wife the following year. They got married on their 8-year anniversary of starting to date each other. The big day was on July the 13th of 2013. When it came to their plans for marriage, Jeff and Jenn had a desire to have a larger wedding and celebration. They would do just that, having many friends and family members in attendance. The day was perfect and they looked forward to everything that would follow in the life that lay ahead for them.  Absolutely stunning! Starting a family would be the next big step for Jeff and Jenn but the couple wouldn’t rush into having children. Instead, they had decided to first enjoy married life for a while. The newlyweds wanted to travel for a bit before it was time to settle down and start a family. They would do just that, going on cruises and road trips while enjoying every minute that they had together. This all afforded them opportunity to fall deeper in love and also, to have more time to discuss their future. Talk about an extended honeymoon, that was the way to do things. More time would pass and then, it was time to think about starting their family. It would be at the beginning of 2015 that Jenn would present the news to Jeff. She was pregnant with their first child and you just know that the two of them were excited that she was. Everything that they had wanted for a life together was falling into place and as expected, things would go well as Jenn carried their first child. The months would pass without complication and the day would come. Jenn would spend a total of 15 hour in labor. It was during this time that some concerns would arise. One was that the couple’s little bundle to be had turned “sunny side up”. The other was that since Jenn’s water had broken 12 hours prior, there was the possibility of infection setting in. Because of this, the doctor decided that an emergency C-section was the way to go. It would be on October the 11th of 2015 that Jenn would be prepped for surgery. Their very first child was born and that child was a girl. Their beautiful baby girl would make her appearance at Joe DiMaggio Children’s Hospital in Hollywood, Florida ... she was oh, so perfect! This little girl was the most beautiful thing that this set of parents had ever laid eyes on. She had all of her fingers and toes and she was covered in brand new baby skin. Their new little bundle was born a healthy 7 pounds and 4 ounces and she was 19 inches long. Jeff and Jenn named their little girl Victoria Marie. She was flawless and had passed every newborn test that the medical staff had performed. The feelings that this couple had shared at that time was like nothing else that they had ever experienced. Jenn explains, “We were overwhelmed with happiness. When I held her for the first time, everything I was worried about with being a mom went out the window. My heart was so full of love for this tiny little human that had just made me a mommy.” There was nothing, at that time, that would lead anyone to believe that this kind of happiness would continue. This would hold true with each new achievement and milestone that was reached. The future was bright as everything continued to progress in this couple’s life. Whereas the center of each other's attention was their better half, things would now be different. This baby, that was already so beautiful, would now develop into a most beautiful little girl. She would quickly become the princess of the house and she was the center of her parents world. Jeff and Jenn were once free to go wherever they wish but they now had someone else that they were responsible for. Baby seats and strollers, not to mention cribs and Victoria’s first bed, would all be essential equipment. Life as a Family  Absolutely beautiful! Every bit of change that took place brought new experiences that were welcomed with much joy. This is what a life together was supposed to be about. There were outings together as little Victoria took in each and every new experience. Much time would be spent with family and friends and Victoria quickly became a priceless and precious little person to everyone that knew her. In addition, this little girl would only cause her mom and dad to grow closer together in the bond of marriage. Jenn would tell me that when it came to Victoria’s development at the beginning, she stayed “pretty much” right on track. In other words, she was achieving most of her milestones at the time she was expected to. The only concern early on was that Victoria was a little slow with learning how to walk. There is a big variable when it comes to the age that different children begin to walk. Some start walking before 9 months while others don’t take flight until 18 months or older. The average age for independent walking in a child is about 12 months old. Victoria did not begin to walk on her own until 20 months of age. Was Victoria just at the end of the range for when children begin to walk or was there something to be concerned about? It would be difficult, especially as first time parents, to believe anything other than she was just taking her time with developing in this area. Other than this, there was not much else to be concerned about at that time. There would, however, soon be some medical concerns that would arise. Each one individually, would not necessary be a cause for worry. All were the “normal” type of concerns that might come along in a child’s early health. One thing in addition to the concern over Victoria’s late mobility was that she was getting frequent sinus infections. This was found to be caused by fluid build up in her ears. As a result, Victoria would have her adenoids removed and tubes placed in her ears. This was taking place at the time that Victoria was two and a half years old. She was also having an issue with speech delay and it was felt that this was caused by the issues with her ears. It makes sense that it would create a problem if a child couldn’t hear well at the time he or she was learning to speak. There still was nothing going on with Victoria that seemed overwhelming. She just needed a little extra help. Every child is different and minor health issues often arise. Issues like this can all be worked out in time. This little girl was so loved and the extra effort was just a labor of affection. One reason why Victoria’s health issues could have been a challenge was because it was at this time that the Fullers were expecting their 2nd child. Just as it had been with Victoria, Jenn had carried her next baby without any major complications. It would be one month prior to the delivery of Jeff and Jenn’s next child that Victoria would have her first set of tubes placed in her ears. I can only imagine that this was a very busy time for the Fullers.  Victoria's new little doll! Everything that Jeff and Jenn had planned for their future had been thought out and discussed. They had wanted one more child and that hope had become a reality as Jenn gave birth to their 2nd bundle of joy. It would happen in September of 2018 that she would give birth to a baby boy. Jeff and Jenn now had a son and they would name him Nicholas Michael. He would soon be affectionately known as Nicky and just like his big sister had been, Nicky was a beautiful and perfect baby. He had all of his fingers and toes and it only took one look to know that Nicky was going to be an adorable little man. How much more perfect could things be at this time? A beautiful little girl and now a charming little man. Yes, there were a couple of issues with Victoria but it seemed that they were things that could be overcome with time. They were just, in the figurative sense, growing pains. As Jenn would put it to me, their family was now complete and the Fullers were as happy as any couple could be at that time. When it came to Victoria’s feelings about her new little brother, she was overjoyed, She thought that baby Nicky was her own little doll. Sibling love was in full effect. All of the changes and challenges that are associated with having a new baby in the house were present again in the Fuller house. All of these things however, were most welcomed. Usually, it is the case that little babies have to learn to adjust their sleep patterns so that they are like everyone else's. That was to be expected in Nicky’s case. As things would turn out though, Victoria was having problems sleeping through the night at the time that Nicky was brought home. Was this related to the problems with her ears? Was it related to all of the excitement over the new baby? Time would tell and life would continue on. The speech delay that the family was experiencing with Victoria would require some help. She was given some early intervention with a speech therapist and that seemed to help. The Fullers were seeing some improvement in their daughter’s speech as she was entering pre-kindergarten in January of 2019. Victoria loved going to school. She would sing every morning as she walked there and would say hello to the people that she met along the way. How cute is that? There was no reason to be anything but optimistic about her growth and her future at this time. Such a special little girl and a big part of a special young family. Victoria would do well in her first term of pre-k and Summer break would come and go. As she returned to school in August, it would be noticed that some things were a little different with her behavior. Victoria was all of sudden really hyper and would run away at school. How concerning this had to have been for the school staff. It had to be very concerning for Jenn as the teacher of Victoria’s class had started to voice her concern over Victoria’s regression. All of sudden, the joy over being a family and having baby Nicky in the house was being mixed with some new concerns. What was it that was going on with Victoria? A Family Challenge  What a special little family! Jenn explains a bit about what her thoughts were after talking with Victoria’s teacher, “As first time parents we often try to list the reasons ‘why’ your child is acting this way. Maybe summer vacation set her back, or she started not sleeping through the night so maybe she’s tired and cranky .... or she’s acting out because there’s a baby at home and she might be jealous.” Was it just that too many changes had taken place over a short period of time and they were overwhelming Victoria? So many questions had to be answered. Could it have been something like true hyper-activity or the early signs of autism? Jenn would tell me that she was losing sleep over what her daughter was going through. She was worried in her “mom gut” as she was seeing the regression. It was slow as it continued but Jenn was able to take notice. Gradually, abilities continued to slip away from Victoria. In the area of her speech, words had disappeared and they continued to do so as Jenn took notice. These two children that the couple had brought into the world were now a huge part of life together. Aside from all that living life entails, Victoria and her little brother were the center of their parents attention. When things aren’t right with one of your kids, that child becomes the subject of a lot of conversation. This as you try to figure out what may be taking place. Jenn shared, “Jeff and I would often talk and think maybe it’s autism… I would see other 4 year olds and think ‘Victoria isn’t doing that’ but you are not supposed to compare, every child develops differently…”. It was Jeff and Jenn’s hope that Victoria would eventually catch up. I think that still, there was this gut feeling that something out of the ordinary was taking place with Victoria. Every child does develop at their own pace, but there is also a normal range. Sometimes, differences can indicate that there is a bigger problem that needs to be addressed. Jenn said that at this point, she was voicing her concerns and opinions to the pediatrician and Victoria’s teacher. Questions like this were asked, “Will Victoria catch up?” and “Is there something wrong with my daughter?” No one was seeing any red flags of great concern. It was just felt that Victoria was developmentally delayed. As January of 2020 rolled around, something would take place that would shake Jenn’s world. There was something “SERIOUSLY WRONG” with Victoria. Jenn’s own words were that something was wrong with her “BABY”. This being Victoria, her firstborn child and only daughter. Jenn describes what she was seeing that was so alarming, “…. all of a sudden Victoria couldn’t talk, she would stare at us blankly, like she wanted to say something but couldn’t.” This kind of regression would seem to indicate that there was somehow, something very serious happening inside Victoria. There had to be something dramatically wrong going on to cause such a severe regression of skills. All of sudden, this perfect little family story was beginning to include details concerning a serious situation.  Little princess! Jenn stated that they had felt a sense of panic and had rushed to get in with a neurologist. Who could blame them for taking such a course of action as quickly as possible? Victoria would be seen by a neurologist in early February of 2020 and would be given the label, or initial diagnosis for autism. The doctor stated that the type of regression that the Fullers were seeing was a red flag for the disorder. Although some of the behaviors that the Fullers were seeing in Victoria may have lined up with a diagnosis of autism, she didn’t completely fit the description. For instance, she still maintained good eye contact and she was still very sociable/lovable. Jeff and Jenn accepted the early label but it still didn’t sit right with Jenn. She just had this feeling that there was more to her daughter’s situation than just autism. It would be difficult for the neurologist to be completely sure of this diagnosis and not wanting to take any chances, he would recommend genetic testing. More would take place quickly as an initial appointment with the geneticist would take place on February the 27th. Jenn would tell me that upon looking at sweet Victoria for the first time, the geneticist would come to an initial opinion. He had seen something in Victoria that led him to believe that she had a type of “enzyme disorder”. The doctor would have a blood draw taken from Victoria in order to have genetic testing done. It would be four weeks later that the Fuller’s would receive a call from the medical assistant working with the geneticist. She stated that the doctor wanted to speak with them as soon as possible. Jenn’s statement concerning that call is telling. She simply said, “... at that moment we knew it was bad news …. just didn’t know how bad.” As all of this was going on, the world was in the process of shutting down because of the COVID-19 pandemic. That meant that the follow-up appointment with genetics would take place by means of a video conference. This would happen on March the 26th of 2020. That was the day that Jeff and Jenn’s world would be rocked and changed forever. They would be told that their beautiful little girl had a condition called Sanfilippo Syndrome. Jeff and Jenn were also told that it was the most severe form of the disease and that Victoria would not live beyond her teen years. The Fuller’s listened with stunned expressions as the doctor gave them the news that would bring them utter dismay. How could the news be any worse? The word terminal is the last thing that Jenn remembers hearing as they listened. All of a sudden, everything that she dreamed about for her daughter’s future was taken away by the reality of their situation. This is a 4 year old girl that we are talking about. Understandably, both parents were crushed. Jenn’s mamma’s heart was completely broken and the tears would flow for days to come. Something such as this had never entered their thinking. How could this be? Embarking on a Journey  Both adorable! As the news continued to set in it would lead to depression. Who would expect anything different at this point in the Fuller’s journey? All of sudden, everything had changed in the couple’s outlook for their future. Jenn describes what she was feeling after the time that they had returned home, “I couldn’t even look at Victoria without crying. It hurt me so much to watch her laughing and jumping and all I can think about is that this disease is going to take that all away from her. My innocent little child has no idea how much she will suffer and I couldn’t face her sweet face at that moment.” At a time when so many were alarmed over what was taking place on the planet, Jeff and Jenn had something going on that for them, was just crushing. Neither of Victoria’s parents were working at the time because of the pandemic and this gave them the opportunity to just process and grieve. Their grieving was for someone that was still with them. Jenn said that Jeff would grieve differently than she would. He would do so by keeping busy, doing projects around the house. She shared that he pushed through the process and would be the rock that the family needed. They were at that point, and still are, a team in this journey ... balancing each other out in a way that helps them to deal with things. Of course there were times that they would hold each other and just cry in the quiet of the night. There is a processing of emotions for every family that is given this type of a diagnosis for their child. The darkness that held Jenn in it’s grip lasted for about a month. This was until she discovered that, as a family, they were not alone. It’s amazing the difference it makes when we surround ourselves with people who understand what we are going through. People who have gone through the same trying experience. They are able to share what they have learned and are able to give advice while understanding what is being felt. That is what Jenn would find as she discovered the people that make up the Sanfilippo Syndrome community on Facebook. What a huge pick-me-up this would be for her as she got to know many of the people that share the same experience. Of course, Jenn found Glenn and Cara O’Neil of the Cure Sanfilippo Foundation to be an amazing couple. They were responsible for giving the Fullers a lot of guidance at a critical time. In addition, Jenn would meet a lot of the moms that are fighting the same battle. One mom in particular really stood out and that mom would be Erica McKenzie. Erica and family had already experienced much with her own daughter Reagan being previously diagnosed with Sanfilippo. She was able to help Jenn in a way that the average mom would not be able to and the connection between them was instantaneous. Erica and her husband Kirk had already been involved with a clinical trial for Reagan at the time that these two ladies would meet on-line. Erica was willing and able to answer every single question that Jenn had. As far as Erica was concerned, there were no stupid questions as she understood completely what Jenn was going through.  No love like a mother's love. Just like with the O’Neils of Cure Sanfilippo, the Mckenzies had been in the same situation at one point. Again, one of the biggest things that Erica had provided Jenn was just the knowledge that she was not alone. Of course, there would also be many close family members and friends to give comfort and support following the diagnosis. Jenn does a great job of describing the kindness they received, “Our friends and family did make a point after they received the diagnosis that they wanted to come see Victoria right away and soak her in, and some of our friends cooked us dinner knowing that we weren’t even thinking about food at all. People that I haven’t spoken to in years reached out to us, checked on us and sent us their best. It was well appreciated, the amount of support and love we have from friends and family, near and far.” With the help of so many that showed kindness, and those that would become like extended family, the Fullers would go through a recovery process. It’s not like the grief would completely go away … it’s just that they would begin to cope with things after receiving all of the support that came their way. They received strength from all of those people that came alongside. With this, the realization that this mommy needed to take action set in. With the following, Jenn briefly described what her thinking was at that point, “‘We are on borrowed time now and I can’t stay in bed sad.’ Mommy mode took over and my next steps were … what can I do to help my baby?” Jenn started to look into possible clinical trials and found that there was one that was taking place in Spain. This would turn out to be another way in which Erica McKenzie was able to be a help to Jenn. The McKenzies had already traveled with their daughter Reagan to have her treated in the same trial. Erica was able to furnish the Fullers with information about the trial and also, who to contact. As things would turn out, the team running the trial would want to test Victoria to see if she would qualify. So even though travel opportunities were limited in the Summer of 2020, Jeff and Jenn would make their way to Spain with Victoria by their side. They had “a glimmer of hope”. Most always, there is no limit for what a family will do to help their child in a situation such as what the Fullers were facing. Before they knew it, Jeff and Jenn were present with Victoria in Spain. Jenn described what it was like for the duration during their stay, “We spent 10 days in Barcelona Spain watching Victoria kick and scream as doctors and nurses poked and prodded my little bug. Every day was a new test, I held back my tears, as watching my baby go through all this at just 4 years old was just so hard to see.” Full of hope, Jeff, Jenn, and Victoria would leave Spain and return to Florida to await the findings of the testing. The results would come back to the family three weeks later and what they would learn was not what they had hoped to hear. Before we continue, let me stop and explain something for those who may not already know. Need for Transformation  Sibling love! The trial in Spain involved a procedure called gene replacement therapy. In the case of gene replacement, scientists create a working copy of the missing, or nonworking gene. The gene is then placed in something called a vector. A vector is like an envelope that is used to carry the gene to the places that it needs to go within the body. The vector can be created by making changes to a naturally occurring virus. That is what scientists use to allow the gene to travel to the places that it needs to go. The Fullers would receive word back three weeks after their return and it stated that the trial would not work in Victoria case. You see, she was found to carry the antibodies for the virus that was being used for the vector. That means that her body had the ability to fight and neutralize the virus that would be used to carry the gene to the places that it needs to go. How completely disheartening. It would be possible that another vector could be found at a later date but the Fullers could only wait and hope this would happen. This, because there were no other trials that Victoria would qualify for under these circumstances. Jenn described in brief, her disappointment but also speaks of the resolve that she would feel towards their situation, “That was a hard pill to swallow, another gut punch but this time I would force myself to keep going. Wiping my tears away and every day, being there for Victoria and Nicky because no matter what, they are STILL here RIGHT NOW.” Way to go mom! One additional thing that needed to be accomplished along the way was to have little Nicky tested for the presence of Sanfilippo Syndrome. The good news was that the results would come back negative but the results did show that Nicky is a carrier of the gene. Most all of the stories that I have written about rare families include certain details that are similar. There is always a transformation that takes place. It usually ends with a resolve to do the very best that can be done for the child that is affected. The heartache continues but the will to move on is strengthened with time. This special child needs and deserves every bit of attention that is received. A love that is profound and undying is seen in the details and a bond that could never be broken is formed over time. These families press on because that is what is in the best interest of everyone. You never know how strong you can be until you have no other choice (not my words). Jenn described how Sanfilippo Syndrome has changed their perspective as parents and how their life has changed as a family. What she had to say sounds so familiar to me as their perspective is very similar to what I’ve read while doing many other stories. She started her comments like this, “As a family, Sanfilippo has changed us completely. We now try to enjoy every moment with each other, take lots of pictures and videos, and try very hard to not let our minds wander to the future....” There is so much in these words that could be unpacked. Like the others, Jenn states that there are too many things that are unknowns. They just take each day, one day at a time while not looking too far ahead. Every sweet memory that is formed is captured. Every smile and bit of laughter is enjoyed. Perhaps, we could all learn something here by observation.  Perfect little lady! The Fullers are joining hands with others in the community that they have found themselves being a part of. They will help to raise funds for potential trials that may help Victoria and the other little warriors. They will also take part in spreading awareness concerning Sanfilippo Syndrome. The biggest mission that they are on is to help Victoria to experience the best quality of life and to experience the most funnest times possible! Jeff and Jenn are both realists that have been through the type of transformation that gets written about often. Jenn explains her current thinking with this, “... at the end of the day, us as parents .... all we want is for our children to be happy. Love is all you need, there is no room for anger or sadness as that just takes away time that we don’t have.” Is Victoria not a beautiful little girl? Yes, she certainly is. In fact, the Fullers are another beautiful young family with a story to tell. These kids are both special and amazing and they cause their families to become one in the same. Now Victoria is, in so many ways, just a normal little girl and a warrior that is unaware. Jenn told me that Victoria loves Elmo and jumping while music is playing (The Fullers use music and singing songs a lot to help Victoria in maintaining her skills). This little girl is full of smiles and energy, just like you would expect her to be. She is both precious and priceless. After seeing a picture of the siblings together, I asked about Victoria’s relationship with her little brother Nicky. It looks like it is a special one. Victoria loves to look on as her little brother plays with his tablet.
I made the statement to Jenn that there must be lots of sibling love in the house. Her stated response was “Mostly, LOL.” Knowing that I needed an explanation, She went on to tell me that Nicky, being just 2 and half years old, does not understand why Victoria likes to give him death hugs all of the time. Poor Nicky. You will one day understand! Telling me this conjurs up images in my mind that are priceless. Many are the pictures that can be seen of this family out together on sunny Florida days. They are enjoying fun times together as they grow in their love for one another. Little Victoria has a lot of life yet to live and who knows what the future may hold. There is a heroic group of research scientists out there that are working on cures like the type that Victoria needs. Who knows, perhaps they are looking for the vector that will work as this is being written. In the meantime, there are many things to be treasured along the way. A lot of love and joy to be experienced as Victoria’s family walks alongside her. I often say things such as, “these kids are the most special, and the most amazing.” I say these kinds of things repetitively because I believe that they are true and I want to place emphasis on them. Their resilient ways and the way that they change people’s lives can be clearly seen if we take notice. That is why they need to be talked about and that is why I take the time to do these stories. All my best to little Victoria and her dear family. Sincerely, ~Greg Lopez~ Blogger and Advocate |
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