“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.”’
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
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.
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.
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”’.
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.
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?
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.”
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
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.
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
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.
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.
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!
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