“We were given hope that day. We were given a community of people who understood us and validated how we were feeling and we have now all become like family.”
Reagan’s Mom and Advocate
It happens throughout the generations. People meet and they decide that their future will include one another. We were meant for this. By this I mean getting married and having a family. There are exceptions of course but family life is the center of the goals that most people set for themselves. If you have the love of a family, then you have something that money and possessions can’t give you. Finding the right career is important but having one is meant for being a support to the ones that you love. There are struggles that are associated with parenting a child but those are accepted as part of the process. The pride and the joy that one has in seeing their children grow and prosper is a big part of the cycle of life that we experience. What is there that we wouldn’t do for our children along the way? Some sacrifice time and resources but for most, parenting is simply a labor of love. Little league games and soccer matches, perhaps gymnastic or swim meets. Family life revolves around activities such as these. Then there are all of the family gatherings and graduations at the various levels of education. Time moves so quickly and much of life ends up being about the memories that we all have made together.
Parents naturally do whatever is needed to be done for their kids. Help with homework and being taken here or there. Doctors appointments and well, you name it. Those things happen under normal circumstances but what if things occur that are out of the norm? Children sometimes get sick and I am not talking about just a cold or the flu bug. The possibility of a life threatening illness taking place is part of the human condition. Sometimes children will have special needs. It could just be a learning disability that can be overcome. Maybe something more severe. Something like epilepsy or autism. One can be overcome with medication while the other could be a lifelong obstacle that requires a parent’s help. Being a parent of a child with special needs is to me, a special position in life. The things that are required in this role are, in many ways, very much more challenging. As a parent of someone with special needs, you may have been signed up for a lifelong commitment to your child. At least in some form. This writer is a parent to a 30 year adult with special needs. There have been challenges along the way but we have taken each one in stride because we love our son so much. He is a very special human being and most of the time, he is a joy to be around. We knew why things weren’t right with him when he was born because of family medical history. We’ve just accepted the challenges as they have come our way.
What if there is no indication that your child will inherit a condition that is transferred genetically? What if it all comes unexpectedly as things begin to go wrong with your child’s health? Your search for answers leads to the realization that your child has a rare disease. A disease that you have never heard of. Never before did the possibility of something like that happening ever cross your mind. What’s worse is that you find out that there is no cure and the diagnosis is one that tells you that your child is terminal. There is no news more difficult for a parent to receive than that. The shock and dismay leads to a grieving process for someone who is still in your presence. The grief doesn’t leave but it is pushed to the side as a resolve to help your child takes over. The feelings of being alone to deal with the situation dissipate as you discover that you are now part of a community that exists worldwide. There are others that have experienced the same things that you are going through. The existence of organizations that can help and potential clinical trials that have been promised give you hope. Social media was once just a distraction from everyday life. Now, it’s a way of connecting with those who share in your struggles.
For me, it was first the kids that battle Batten disease that caught my attention. Now, I have added to those whose journeys I follow, kids that battle Sanfilippo Syndrome, as well as, other MPS disorders. At the beginning, I was just so taken by the details of these stories. The parents display a type of love that is profound and undying. These kids and the way that they battle so innocently. All of their stories are ones that stir the emotions. These are children that we are talking about. I am taken by the resilient way in which they handle adversity and the way that they bounce back from everything that life throws their way. I think that it is a combination of knowing their plight while looking in at their innocent ways. It all seems so unfair, and yet, they handle the adversity that they face so gracefully. I know that these kids have their bad days but they always seem to bounce back. Having to face these types of circumstances will often produce people that are considered to be extraordinary. A parent’s way of dealing with the grief of such a situation will often result in them taking up the role of being an advocate. They may be an advocate for their own child but sometimes, they end up advocating for the entire community that they find themselves being a part of. This is the way that nonprofits get formed.
Whatever the case may be, parents will generally do whatever it takes to help their child to battle a rare disease. They search for any available treatment and would travel any distance necessary to get results. This is what helping a child to battle a rare disease does to parents. It takes ordinary people and turns them into people that will take extraordinary measures to help their child battle. They will go any distance, at whatever cost, to help their little warriors. If a parent could say, “My child had a rare disease for which there was no cure but then, there was this clinical trial that was available.” Would that not be wonderful? And with that, the disease which was terminal, was stopped in its tracks. That is what we would all wish could happen. That is the type of thing that brings hope and that is why parent advocates do what they do. This next story touches on many of the details that I have just shared and it is taking place in the great state of Georgia, here in the USA. Just like with many of the stories that I have done, this one starts with two people that meet and fall in love. This is another small town story and it began to happen in the city of Fairburn, Georgia. Let's get started!
Destined to Meet
How many times had Kirk McKenzie looked out the kitchen window of his family’s home and not known? In plain view as he frequently dropped off dishes after a meal, was a house belonging to the Power family. Inside that home was the person that he was meant to spend his life with. There had been other intriguing coincidences that would exist. Kirk’s best friend had gone to church with Erica Power and yet, Kirk and Erica had never met. Kirk’s brother had even been taught his kindergarten year by the grandmother of Erica. This is a small town that we are talking about and people knew each other. Even so, Kirk and Erica had lived on the same street for fifteen years and had never met one another. That is until they both met while working at the same local store, that being Jernigan’s Hardware and Gifts. This had taken place the year after Erica had graduated from high school and they both would begin to date in November of 2004. Kirk and Erica dated for six years prior to becoming engaged. It would be on Christmas Eve of 2010 that Kirk would ask Erica to become his wife. The young couple would wait nine months to be married for a very special reason. A date of significance would arrive on 9/10/11 and that is the day that they picked to get married. You see, Erica was part of a close knit family and she was very close to her grandparents.
The date that they picked for their wedding was actually the date that her grandparents had been married. That day would have been their 51st wedding anniversary. This, except for the fact that Erica had lost her grandfather to Leukemia when she was in the 11th grade. The day chosen was a special one and it was a day not easily forgotten. Especially with it being 9/10/11. Erica joked that Kirk should never forget an anniversary date like that. Well, to be honest, I don’t think that any of us could! The plans that Kirk and Erica had for their future were typical for what many young couples long for. A life of relative peace spent together in small town America. Raising a family in love while looking forward to all of the events that couples and future parents look forward to. Kirk and Erica wanted children, at least two. I suppose that what they wanted most was that their kids would be healthy but each had a minor preference for gender in the back of their minds. You see, Erica had grown to be very close to both her mother and her grandmother. So we are talking about a bond that existed between three generations of women. Erica would hope to one day have a daughter. Wouldn’t it be special to add a fourth generation to the bond that existed already with the women of the family? Kirk on the other hand had hoped to have a son one day and he had his reasons. Certainly, there is a bond between father and son that is special. Bringing up a son while training him in everything that living life requires is a special task for a dad. Sharing the love for activities that men enjoy doing together helps to create a bond between father and son that will last a lifetime.
And then, there is baseball! We’re talking about America’s pastime. There are so many of us that have fond memories of growing up around the sport of baseball. Some of us played for fun and the love of the sport, while others had talent and excelled at playing. So many kids in America learn about competition and fair play on the baseball diamond and so many of our childhood heroes are the great players of the game. Kirk loved baseball growing up and he still does. He was a standout player in high school and like many people his age, he had hoped to have a chance to play professionally. Kirk’s skill at his level on the baseball field would gain him an invite to a baseball camp as he attended high school. This was a big deal as the camp was put on by Major League Baseball. In attendance at the camp would be scouts and other representatives from many different major league teams. This would be Kirk’s big chance at a future in professional baseball but as it turned out, it was not meant to be. It would be about a week or so before the camp began that he injured his elbow and this left him unable to compete. Disappointed for sure, Kirk pressed on with life. He would actually play some semi-professional baseball but it would not lead to a career in the sport. What this all left him with however, was a love for the sport of baseball and a lot of knowledge that he could pass on to a son. Kirk wanted a son!
It wouldn’t take long for Erica to become pregnant. The happy news would be received four months after Kirk and Erica married. Their first child was to be a boy. Kirk would have the son that he had wanted. All would go well with Erica’s first pregnancy and her baby boy would be delivered on October the 14th of 2012. They would name their new little man Garrett and both mom and dad were so happy to say hello to him. Garrett came into this world ready to play ball! He had all of his fingers and toes and that was important because dad now had his future little leaguer. This is the best of times for a new family. Mom and dad are not far removed from their honeymoon and they are falling more in love with each other with each passing day. Now, the bond that they share with one another is shared with this new life. The joy of parenting a little person is shared between both the parents and that joy is shared with extended family. This is a beautiful thing as generations of people are sharing life together. Both Kirk and Erica got established in their work life while they began to raise little Garrett in the usual way. Garrett was the center of this couple’s attention and family life was to their liking. Why would it not be? The McKenzies didn’t rush into having another child but rather, they would wait a couple of years until the time was right. This makes perfect sense and the time would arrive for them to try for another child. Again, Erica would have no problem conceiving and soon, Garrett’s future sibling would be on the way.
Wouldn’t it be wonderful if this time around, Erica would get to have the little girl that she wanted. Having one of each, both a boy and a girl, would be special. In fact, that is what Erica would hope for as she states the following, “I prayed to God for it to be a girl. I wanted a little girl so bad. I loved my son so much but there is nothing like having a little girl.” Her second pregnancy would prove to be more difficult than the first one was. Erica said that she felt extremely sick for the entire nine months. What expectant moms often go through in order to bring a new life into the family! What would make it all worth the trouble was to hear the news that they would be welcoming a little girl into the family and that would in fact, be the case. Kirk and Erica would receive this news as the results of a sonogram were revealed. They would soon have a little girl to go with their little man and everyone was excited to know this. One thing that generally happens is that people start to think of names once the baby's gender is revealed. In this case, Erica already knew the baby’s name would be that of her grandmother. She would be given the name Rebecca. Kirk and Erica also had a middle name in mind and that was the name Reagan. This was a name that they really liked and it fit so well with the first name that they had picked. They couldn’t wait to meet their little girl and to give her this name.
The entrance of Rebecca Reagan into the world would not come without increased difficulty. This had already been a challenging pregnancy for Erica but she was so excited to be having a little girl. The challenge of carrying this baby increased as the time would draw near. It was two weeks before the delivery date that Erica started to have issues with dehydration. This would require several trips to the emergency room in order to get more fluids into Erica. Because she was getting sick, the doctor decided to induce labor a week early. The time for the delivery of this baby had come but again, another added challenge would arise. When it came time to induce labor, the doctors had found that the baby had flipped and had become breech. This was not a good decision on the baby’s part and this would give her the label of being an Unstable Lie baby. This, according to Erica, means that a baby can flip at “the drop of a hat”. It would seem that this little girl couldn't make up her mind, or perhaps she could and just knew that she was making things difficult for her mamma. The doctor had been prepared to deliver the McKenzie’s new baby via cesarean section but that would end up not being necessary. Erica explains with this, “They prepared me for a C-section and right before they were wheeling me back decided to check her one more time with an ultrasound. Well guess what? She was back head down. She knew mama didn’t want to go through all that. LOL.”
According to Erica even the doctor referred to baby Rebecca as “trouble”. I can only imagine that this would make him a little nervous, thinking that this baby better stay in the correct position for her exit from mom’s tummy. All of this was taking place at Piedmont Fayette Hospital in Fayetteville, Georgia and this is where the McKenzie’s new addition to their little family would make her entrance. Named in honor of her great grandmother Rebecca, It is the name Reagan that she would become known by. After a few hours of additional labor, baby Reagan would be born and oh, was everyone so happy to see her. Especially her mom! She had her little girl and she was so beautiful and special. With the exception of some jaundice, she was perfect in every way. She had all of her fingers and toes and she was covered in brand new baby skin. Not only that but baby Regan was born with a full head of dark brown hair. She was a perfect size and weight. She was 20 inches long and her little self weighed 7.1 pounds. Reagan would pass all of her newborn screenings and the family of four would be on their way home together in a few days. The experience of delivering her baby and getting to hold her for the first time was “everything” that Erica had hoped for. The big day was February the 28th of 2015. Dad had his future little leaguer and now, mom had her baby girl. It was all wonderful beyond belief. Things were at this point, perfect in every way. A perfect size little family and everyone was in great health. Family life was now even more to Kirk and Erica’s liking as things continued to come together for this young family. They had a boy and a girl, and they had each other. Their entire family was overjoyed with the addition of little Reagan. It seemed like the perfect situation and who could argue against the fact that it was?
Garrett was not yet three years old and now, his life was complimented with having a little sister. How perfect is that? He and baby Reagan were both close enough in age that they would grow close to one another as they continued to grow as little people. This young family was establishing themselves in life and in the community that they were a part of. Reagan was growing and she was growing to be prettier by the day. Being a mom to this little girl was everything that Erica had hoped for. She looked forward, each day, to seeing what Reagan would do next as she continued to develop into the little lady that she had dreamed of having. This was truly a special experience. As Reagan reached the 4-6 month age range, Erica looked for all of the normal milestones to be met in her daughter. At this point, the McKenzies had moved to Palmetto, Georgia. Garrett was a preschooler at that time and he was growing fast. Kirk was working for the city of South Fulton and Erica had just started working at the Eye Consultants in Atlanta. Not knowing, at this point, what the future would hold, Erica’s choice of vocation would prove to be useful to the family in more ways than just providing additional income. There was so much more to come as a family. In most cases, early development might include a child’s little limbs beginning to move with more purpose and there should be an increase in the quality of hand-eye coordination. There would be a lot of babbling taking place and an increase in new sounds should be noticed by mom and dad. Whatever the case may have been with Reagan at this point, Erica was noticing that her daughter was not achieving the milestones that she had seen with little Garrett at this age. The most notable thing was that Reagan was not sitting up yet.
Something was different and it was concerning enough that Erica would mention it to others. Once she did, Erica would be assured that Reagan would catch up and she was told to not worry just yet. Reagan was under the care of an amazing nurse practitioner named Jacquelyn McDowell. She is not only Reagan’s primary physician but also a family friend. Erica had great confidence in her as she offered words of encouragement. Even so, a flag had been raised by Reagan’s lack of progress and everyone would be keeping an eye on her. A mom’s intuition is like no one else’s and you just know that Erica would be watching with each passing day. The weeks and months would move forward as did life as a family. Life together was still a beautiful thing but Reagan would stay behind where she should be as she continued to grow. It would normally be between nine and fifteen months of age that a child would learn to walk. This had not been the case for Reagan. She was not yet walking at 18 months of age and again, her parents were concerned. On top of this, Reagan’s speech was not where it should be. Erica stated that Reagan was “just talking a lot of gibberish”. She had a lot to say but nothing that came out of her mouth made any sense. Reagan, like a lot of kids her age, had a chronic problem with ear infections. She would finish a round of medication only to have her ears infected again soon thereafter. Could this be part of the problem? Was her hearing impaired and causing an issue with the development of her speech? Reagan’s Nurse Practitioner would suggest that she be seen by an ear, nose, and throat doctor and she would set up the referral.
At this point, Reagan’s NP was concerned enough that she also recommended that Reagan be tested genetically. She had to be seeing enough in Reagan that there was concern about the possibility of an underlying condition. Concern about something outside of what would be considered normal. Kirk and Erica would make a reasonable decision and that was that they would first pursue getting answers in relationship to the issues with Reagan’s ears. So, the appointment with the ENT doctor would be attended and Reagan would soon have tubes placed in her ears. A hearing test would also be ordered and it would be in the form of an Auditory Brainstem Response (ABR) Evaluation. This is a test to measure how well each ear can pick up sound. This test also tells the physician how well the hearing nerve sends information that is received to the child’s brain. The test is normally done under sedation. The ABR would reveal that Reagan had mild to moderate hearing loss and this led everyone to believe that they had found the problem. It would be on September the 11th of 2017 that Reagan received her first pair of hearing aids. It is not unreasonable to think that any child would make it through to adulthood without some form of difficulty. So be it if that was all there was that had been taking place with this little princess. An issue with her hearing was certainly something that could be dealt with and overcome over a lifetime.
The next step was to get Reagan into therapy in order to deal with the effect that the hearing loss had on her speech. It would have been wonderful if the therapy had been completely effective but that would not be the case. Erica said that they would see progress initially but then Reagan would regress in that area. On top of the issue with Reagan’s hearing and speech, Erica would notice that there was something not right with her daughter’s vision. Reagan had been seen by Dr. Sethi, one of the doctors that Erica was working for in the past. This was because of an issue with her tear ducts. Blocked tear ducts are common in infants and in Reagan’s case, it caused her to tear excessively. Her tear ducts had never fully developed and the problem had been dealt with by the ophthalmologist. Dr. Sethi was another physician that was trusted completely by Erica. The doctor had dealt with Reagan’s vision exams in the past and she was now in for a routine check-up. Upon examining Reagan’s vision, Dr. Sethi noted that Reagan’s vision had appeared to have gotten worse. She wasn’t too worried about that at the time but the doctor had another concern and that had to do with Reagan’s facial features. Although Reagan was a very darling little girl, there was something noted in her appearance that caused the doctor to be concerned. She would ask Erica if she had ever considered having Reagan tested genetically. Could the issues with little Reagan be associated with a genetic disorder?
This was the second mention of having such a test done and Erica knew, she needed to take this type of action. Here it is in her own words, “I knew at that moment we had to do it. I had just had two doctors whom I trusted greatly tell me we should get this done. I called immediately and set up the appointment.” Erica would make that appointment and it would be at the genetics clinic associated with Emory University in Atlanta that little Reagan would be seen. It took about a month to get into an appointment once the call was made and the day would come for them to attend the appointment. Kirk would travel that day with Erica and Reagan to the appointment and while there, Reagan would be seen by two doctors. The first physician, Doctor Black, was involved in a fellowship at the clinic as she was in training. She was very kind and would be the first to spend time with the family as they all discussed Reagan’s medical history. The next person would be Doctor Li, who was an experienced geneticist. Her first remarks upon entering the room had to do with the fact that Reagan’s facial features were coarse in appearance. Kirk and Erica had not yet heard the term and neither knew what that meant. This would, of course, take them by surprise and Erica felt a little put off by the comment. This was her daughter after all. Dr. Li had recognized something in Reagan that had caused her to draw a preliminary conclusion. She started asking questions and then asked Erica if she could take Reagan’s picture. Of course they consented and so, Dr. Li took the picture and then turned it around so that Kirk and Erica could look at it.
For Dr. Li, what she was seeing was obvious to her although Kirk and Erica were, at this point, completely unaware. Erica recounted the doctor's words in this way and then shares what her response was. The doctor said, “I don’t know what kind but more than likely your daughter has a form of Mucopolysaccharidosis also known as MPS.” Erica was at that point mystified. Neither her nor Kirk knew all of the details or what this meant concerning Reagan’s future. Here is how Erica described her initial reaction and what she was told to be the next step, “I had no clue what to think. She spoke with us and explained everything and how we would go through testing to see what kind she had.” It always takes time to process information and the McKenzies would have that time as they waited on the test results to come back. For Erica, the wait for the results was “absolutely excruciating”. The wait for the findings would be seven weeks and that would, understandably, make the wait all the more difficult. Dr. Li had used a computer based application to compare Reagan’s facial features to known children having the disease, so there was a certain amount of assurance that Reagan had a form of MPS. Even so, there would be no conclusion to the search for answers until the results returned and this would be a most difficult thing to face as a family. Kirk remained hopeful for something positive to come from this and Erica would tell me that Kirk was her rock during the wait. Even with this, she admitted that she was “extremely depressed” during the time that they were in waiting. Who could not understand how this would be the case?
So very slowly, the time would go by and the day would approach for the results of the tests to be revealed. Is there ever a good time for bad news to be received? Usually not but something seems wrong when bad news or trying events happen around Christmas time. That time is supposed to be a time of joy and celebration but for the McKenzies, it would be anything but that in the year of 2018. It was five days before Christmas that Erica would receive the call that she probably expected and dreaded. Her reaction was exactly what one would expect. Here it is, stated in Erica’s own words, “On December 20th 2018 our world was completely shattered. I was at work and got the phone call from Dr. Li. She told me the results showed Reagan had MPS IIIa. I absolutely fell apart. My best friend Misty came in the office because she had answered the phone and knew who the call was from. She just sat and held me as I sobbed.” Erica stated that at a certain point, she was able to pull herself together enough to contact her family. She called her husband while her friend Misty called Erica’s mother. They then all met together at home and headed to the clinic at Emory. Erica wanted to be with Dr. Li in person to discuss the findings. She described what took place as they arrived at Emory, “When we arrived we were greeted with hugs and I’m sorries. Both Dr. Li and Dr. Black we’re ready to start fighting with us and for us. They had already been doing research that day trying to find any clinical trial they could get their hands on.”
The staff at the clinic had to know that this was a terrible time for such a diagnosis to be revealed. They also knew that it would take a little time to deal with the grief and for the family to process their feelings. Erica stated that the doctors at the genetics clinic said that they would help in any way that they could and to call them after New Years. Doctors Black and Li could not have been more caring than they were and that left Kirk and Erica with a positive impression of them. This is how Erica would describe her feelings about the two of them to me, “They both sat and shed tears with us and I couldn’t have asked for any better doctors than the both of them.” Even with this, Sanfilippo had become an unwelcomed guest at the McKenzie house over the holidays. For Kirk and Erica, and everyone in their extended family, “Christmas was not the same”. It would be impossible to set your feelings to the side during that time and it would leave even more idle time to sit and think about what the future may hold. At that point, there was nothing positive to take away from what was happening but it was Christmas and this young family knew that they were loved. I am positive that Reagan felt the love that was shared for her by those that surrounded her but did she know how enormous that amount of love was? She was diagnosed five days before Christmas. Beyond the passing of a loved one, I can’t imagine a more difficult thing to have to go through. Especially during the Christmas season. There would be a cause for hope in this family’s future but at this point, they had to feel like there wasn’t any.
For the McKenzies, Christmas of 2018 would be of a different type for obvious reasons. It would be filled with grief but that would not paralyze Erica. Just like it would be with so many people, Erica would want to learn as much as she could about Sanfilippo Syndrome. She would turn to the internet for finding information and that would lead to her viewing a video on YouTube. The video was about a little girl named Eliza O’Neill, and her family. It would be a few days before New Years that Erica would get the courage to reach out to Eliza’s father, Glenn O’Neill and when she did, it would make all the difference in the world. Any parent or family member that fights alongside a child with a rare condition is special in my eyes. Working past the grief over what the future holds in order to do the best that they can for their rare child is a difficult task. A love that is that is like none other, I’ve mentioned this over and over. I believe that it is that type of love that drives people to do their best at whatever level they are able to. Sometimes, people are in a position that allows them to do things that are beyond what most of us are able to. While trying to accomplish their best for their own child, they also accomplish things for others. This is how non-profit foundations come about. Some make a big difference and others have a profound impact on the community that they represent. Supporting families that have children afflicted with a rare disease is so important. Giving families hope, when it is there to give, is the greatest thing that can be done for them. That is what Glenn and Cara O’Neill have done for the families that battle Sanfilippo Syndrome. It started with the diagnosis of their daughter Eliza in the year 2013.
The O’Neill’s question as to why their beautiful little three year old was falling behind in her early development would lead them on a search for answers. After a lot of testing and an early diagnosis of Autism, they would learn that Eliza had a disease that was fatal and for which there was no cure. Eliza, had Sanfilippo Syndrome. The O’Neills would form a 501(c)3 non-profit organization which they named Cure Sanfilippo Foundation. A search of their website, curesanfilippofoundation.org, reveals that their purpose for creating Cure Sanfilippo was to “turn hope into action”. They do this by helping to bring about an increase in fundraising and through the elevation of awareness concerning Sanfilippo Syndrome. Also of the greatest importance is the support that they offer the families that battle Sanfilippo alongside their special children. Helping to bring about a cure for this dreadful disease will be done through accelerating research projects and promoting clinical trials that show promise. Helping to point families of children with Sanfilippo Syndrome in the direction of promising clinical trials is a big part of providing hope. Erica’s impression was that Cure Sanfilippo would be a big organization and she wasn’t sure that she would hear back from Glenn. It is a fact that the Cure Sanfilippo Foundation has gathered together an impressive group of individuals. This would include Glenn’s wife Cara, who is a Pediatrician who has served in both private practice, as well as in academic settings. As President of the foundation, Glenn is a busy guy but he would in fact reach out to Erica, even though they were in the middle of the holidays.
Here is how Erica described her reaction. “I was so shocked when Glenn immediately emailed me back and said he wanted to speak with Kirk and I. He wanted to know if we could talk New Year’s Day while they were headed back home from a vacation.” Like so many families that find themselves in the McKenzies shoes, they would soon find out that they were not alone. They were given the hope that would lift them up. They discovered that they were part of a community that existed worldwide. Part of Cure Sanfilippo’s goal is to join families together and to show them that they are part of an extended family of people that are there to support one another. The McKenzies would find out that there were others who understood what they were going through. Their feelings had been validated by others who were going through the same thing. As the weeks and months passed by, the McKenzies' understanding of what the Sanfilippo community meant to them would grow as they continued to connect with others. A huge part of that can be attributed to the work that Cure Sanfilippo does and Erica would give the organization their due credit with this, “The Cure Sanfilippo Foundation has been nothing but amazing and so supportive in this journey so far. I can’t help but thank them for everything they have done for us.” The goal for the McKenzies was, of course, to find some form of treatment that would help Reagan to overcome the symptoms of the disease. The O’Neills would have a big part in pointing the McKenzies in the direction of looking towards a clinical trial. Cure Sanfilippo Foundation has now raised ten million dollars through grass root efforts and has funded twenty-five research projects. They are helping to fund three different clinical trials that are treating over forty children. This is amazing!
Hoping for Hope
The O’Neill’s daughter was herself the recipient of a clinical trial performed here in the United States and Cure Sanfilippo would certainly encourage other families that battle Sanfilippo to get involved if at all possible. That is with the trials that provide hope for improvement in their children. It would in fact be in 2019 that an opportunity would become available for Reagan and the McKenzies and it would be a game changer. The McKenzies would find a clinical trial for Reagan that was different from the one that the O’Neills had participated in for Eliza. Even so, the O’Neills would be a great source of encouragement for them as they had led by example. It wouldn’t take place overnight and the family would have to wait a while into the new year but it would happen. Reagan would be accepted into a clinical trial that was taking place in a part of Europe and it would involve Gene Replacement Therapy. Traveling for the trial would bring with it a certain amount of difficulty but Kirk and Erica would do anything for Reagan with the help of those who would lend them support. They would travel any distance to help their daughter. Princess Reagan means the world to this family and they would do anything to fight for her “every step of the way”. Would it not be something if the trial was to stop Sanfilippo in its tracks? There are so many different rare diseases that affect kids. There are a lot of families that look for a clinical trial that would bring them hope and the possibility of their child overcoming the effects of a rare disease. So many different families in the Batten community come to mind as I write this. Erica would, in fact, feel very blessed to have had Reagan accepted into a trial of this type.
As parents to our son Benjamin, there have been challenges along the way. However, we feel that our lives have been made richer by having our son with us for all of these years. It would be wonderful if a parent with a child like Reagan could say something like, “My daughter had Sanfilippo Syndrome but there was this treatment that she received when she was much younger. Her condition was fatal but here she is, with us until this day!” Would that not be extremely special? This is the type of thing that I hope and pray to happen for people in the Batten disease community and all MPS communities. We cannot remove our attention from something like this, even with all that is taking place in this world right now! Reagan had her surgery on September the 18th of last year. There are so many parents of rare kids that hope for Gene Replacement Therapy to become a reality and for Reagan, it did happen! The trip overseas was crazy hectic but the procedure was performed. The good copy of the affected gene was placed in a virus that was injected into Reagan’s brain. The hope is that the virus traveled through the cerebral spinal fluid in order to be delivered to where the gene would do it’s work. The McKenzies stay overseas would be three weeks and it had to be quite an adventure for this family. They would have to make that trip four different times during the months of September through December of last year. What an amazing commitment but then, this is Reagan that we are talking about. The McKenzies would travel any distance, as many times as is necessary. They were actually supposed to go back in March of this year but were unable to travel because of restrictions related to the COVID-19 pandemic. Even so, Erica sees signs in Reagan that the good copy of the mutated gene has done it’s thing. How exciting!
Life continues for the McKenzie family although in some ways, life has had more twists and turns than they would have expected. Having a child with special circumstances of any type will affect the rest of the family for sure. This may be even more true when we are talking about a child with a rare disease like Sanfilippo. A condition that involves childhood dementia is so difficult to watch happen and it most definitely will have an affect on a child’s behavior. This, in turn, can affect everyone in the house. Erica has had bouts with anxiety and depression but she continues to fight her way through it. She has Reagan counting on her. Erica is not able to work at this time because of the extra demands that come with having a child like Reagan. Being her mamma is a special calling and Erica is up to the task. As far as Kirk is concerned, it hurts to see his baby girl being affected by Sanfilippo Syndrome but he is a fighter who will continue to fight for Reagan, as well as, his entire family. Once a winner on the baseball field, he’ll continue to compete in life while doing his very best. Together, they are a family living a family kind of life there in the state Georgia here in the USA. This writer is a tad bit jealous because he loves what he has witnessed concerning the positives that surround the culture in the Southern United States. Togetherness with each other and time spent with extended family and friends, life is often very sweet. Oh, and let's not forget little league baseball. Just as Kirk had hope for, he is continuing to pass on his love for baseball to Garrett who is now 7 years old. Much of the family’s off time during baseball season involves Garrett’s play on the baseball diamond.
Kirk feels that Garrett is more advanced at his age than he was when he was young. Kirk will tell you what his thoughts about Garrett are in his own words with this, “I honestly think he will be a great pitcher with him being left handed. I’ve been working with him on that and he’s very accurate and throws very fast for a 7 year old. I’ve never clocked him but I would guess he’s throwing somewhere in the ballpark around the 40 mph range.” That’s pretty fast for a kid that is only 7 years old. Not only is Garrett a great little leaguer but he is a great big brother. He loves Reagan and is very mature in giving help to her whenever it is needed. As for Reagan, Erica refers to her daughter as their “sour patch girl”. Here is what Erica has to say concerning that label for little Reagan, “First she’s sour and will hit you and then in a split second she wants to love on you and tell you she loves you and give you the biggest kiss. I couldn’t imagine my life without her.” I couldn’t imagine them being without Reagan either. Gosh, she is such a little doll and my hope and prayer is that they will have many successes with Reagan. This, because of going the distance for her to be involved in the clinical trial she is a part of. Reagan apparently has a guardian angel and that would be her great grandmother who passed into eternity on July the 25th of 2019. This was two weeks after the family got back from the screening visit for the trial.
Before her passing, Erica told her grandmother that she would need to watch out for little Reagan during all that they would go through. Especially if she were accepted into the trial. The McKenzies would end up getting the news that Reagan had been accepted into the trial on August 31st of 2019. I wonder if Reagan’s Nana was looking out for her! It’s very sweet what Erica had to say about the relationship between Reagan and Erica’s grandmother. Here is what she had to say, “Reagan still says Nana all the time. Even if there is nothing around she will look up and say “that’s Nana”. I swear she can see her and I find so much comfort in knowing she is with her.” There aren’t too many things that are worth more than being a close knit family. Even in one’s absense. One step at a time, we take each day as it comes to us. The McKenzies had no idea what the future held for them as they decided that their futures included each other. I am sure that they envisioned themselves spending time with family and with a community of friends. However, they had no idea, at the time, that they would be a part of a community that they had no knowledge of. That being the Sanfilippo Syndrome community and the community of those who care for kids with rare diseases. You all have so much in common with one another! The McKenzies are no longer new to this but are rather of the group that is able to come alongside those who are just receiving the news. They are also able to make others aware. These kids are so special!
Erica had this to say about their role in the community that they are a part of, “We aren’t afraid to talk about it now. Awareness is key. I also have been in contact with new families that are going through what we went through a year and a half ago. I love helping these new families understand they are not alone and understand that what they are feeling is valid.” I guess that this writer would have to say that he also feels that making people aware is important. But like I’ve said before, awareness yes but that wasn’t my first thought. It was that I was so taken by the details of these stories. Yes, a love that is profound and undying. That is what I see in each of these stories and that is why I take the time to put them into writing. I am so thankful for every opportunity that I am given and I am thankful for the McKenzies helping me to put their story into this blog. Reagan is a very special little girl and I wish her and her family all the best. Thanks for taking the time to read the Reagan’s story!
Blogger and Advocate
“I remember vividly, sitting in the waiting room at one of her therapy sessions and filling out a routine evaluation sheet. These questions are always hard to answer for a child that is behind or struggling but they seemed to be becoming more difficult each time I had to update them.”
Haidyn’s Mom and Advocate
Having sons is great but it is also nice to have a princess in the house. I have joked in the past that we were trying for a girl but we got a Benjamin instead. Everything had gone well with the delivery of our first two boys. They reached all of their milestones on time. In fact, our second son achieved many of them early. Perhaps we were lulled to sleep. Benjamin was different. His head and neck were floppy for quite some time after entering this world and he just wasn’t achieving the things that a normal baby does as they progress. It was apparent, early on, that we had a special needs child on our hands and we were resigned to that fact. With that, there were more appointments involved and finding the right pediatrician was crucial. Benjamin was sick a lot. Then as he grew, there was the need for durable medical equipment and difficulties with the insurance company paying for everything. I would find my sweet wife close to tears and totally frustrated upon coming home from the work day. Shriners hospital would eventually make him custom AFOs after our doctor refused to prescribe them. Our son may not have taken his first steps at the time that he did if not for Shriners. Genetic work was done while a patient there but the results would be inconclusive. Along the way, there were seizures and one instance of aspiration pneumonia. He was so sick and we could have lost him but he is with us to this day. Benjamin is 30 years old now and we have enjoyed most every day that we have had with him.
There have been challenges but his sweet disposition has endeared himself to us. He’s a special guy! Sure, he has had his down days but it doesn’t take much to pick him back up. Being Benjamin’s Daddy has been a rich experience overall and I feel that being his father has placed me in an honorable position. A lot of people turn away, or show little interest, when I show them his picture. However, the right type of person will have a more positive reaction. Benjamin is developmentally delayed and his physical appearance is a little different. His facial features are coarsely developed but I think that he is a handsome fellow. He has autism. His fine motor skills never fully developed and he is mostly non-verbal. I love kids (and adults) with special needs because of him. I believe that being Benjamin’s daddy has lended itself to a love that I have developed for kids who battle rare diseases. I understand that the families of these children will go through much more than we have experienced. A love that is profound and undying is on full display through the actions shown by these parents and caregivers. I first had to be made aware but now, these kids are the center of my attention. There has been a countless number of hours that I have dedicated to being an advocate for children that battle Batten disease. This I do by working with the families in placing their stories in this blog. I now have the strongest desire to include the families that battle Sanfilippo Syndrome, and other MPS disorders. This, as I continue to work with the Batten families that extend to me the privilege of telling their stories.
We didn’t know what Benjamin’s life would be like when he was born. We did know that his condition had been transferred genetically to him. This, because of the medical history in my wife’s biological family. The geneticist at Shriners had told us that his condition appeared to be degenerative but we have never been told that he is fatal. The situation is different for the parent of a child with a rare disease. Things generally go well with the delivery of these children. Milestones are reached, although small differences may be noticed. Over time, things go from bad to worse and eventually a diagnosis is given. Heartache creates pain that seems unbearable as the news is given. Rare families are blindsided by the reality of what has taken place, whereas what happened with us could have been expected. The way that parents of rare children regroup and take on the challenge of fighting for their special kids is something that I always like to draw attention to. Professional athletes and musicians entertain me when I have the time but these kids and their families are my rockstars! Over the years, Benjamin has displayed behaviors that are both cute and funny to observe. Each of these actions are reminders that he is a person with special needs. They are just part of who he is. He is still pretty adorable (Yes, I use words like that), even at age 30. Benjamin is who he is and we love him. For the parents that battle a disease such as Sanfilippo
Syndrome alongside their children, things are different. The behaviors that I see in their kids might seem adorable to me but for the parents, these traits are reminders that their child is suffering from a disease that is causing them to regress. These kids are so special and they are adorable even though there is heartbreak that is involved. I have noticed that most of the children that battle Sanfilippo have special faces. My son has a special face and I love the way he looks. I can’t help but to love the way that these other little faces look as well.
I started to connect with different Sanfilippo families over social media as the desire to follow their community took place. The desire to include these families in my writing is what brought this effort about. One of the families that I connected with is the Fowler family from the great state of Georgia! Caleb and Carrie Fowler are, of course, the parents of a beautiful little girl named Haidyn. Haidyn has Sanfilippo Syndrome. Carrie stated something during our initial contact that I will never forget. That is simply that “her daughter is a mess”. Not knowing what they had been through up to that point, I thought to myself something like, “Well then, Haidyn is a beautiful little mess!” However, the more that I have learned about what the Fowler family has been through with little Haidyn, the more that I understand what Carrie meant by that comment. And still, Haidyn is beautiful and she is worth every bit of extra effort that it takes to be her parents. It is with a great deal of gratitude that I am being allowed to have little Haidyn’s to be the very first Sanfilippo Syndrome family story that I write. Caleb and Carrie are going through all of the things that are faced by parents of a rare child like Haidyn. Undying love and complete dedication to their daughter’s cause is on full display. It appears to me that they are doing their very best to fight for others in the Sanfilippo community as they fight for Haidyn. This they are doing through fundraising and through a show of leadership in the community that they have found themselves being a part of. I am so happy to have met them, even if from a great distance. Here is Haidyn’s story and that of her dear family!
Playing Hard to Get
Just like it happens with most every story, this one begins with two people that meet and fall in love. Caleb Fowler and Carrie Creech both met one another while attending high school at South Paulding High in Douglasville, Georgia. The year was 2006. Caleb said that he always thought that Carrie was amazing but with that, she was also very popular and always had a boyfriend. Even though they shared mutual friends, Carrie had paid no attention to Caleb but that wouldn’t last forever. Graduation would take place and life would go on but Caleb would not forget about Carrie. It would be about six years later that their paths would cross again. Both had dated other people and Caleb had heard that Carrie had just come out of a long term relationship. He was also single and had seen an opportunity to connect with Carrie and still, she was not overly interested in having a date with him. Caleb would prove to be persistent and “would bug her enough” that she finally agreed to go out for dinner one night. For Carrie’s part she said that she had just seen an opportunity for some free food, stating that she is “always down to eat”. She perhaps wasn’t aware at that time but Caleb would prove to be much more to Carrie than just a meal ticket. The two of them would connect in an amazing way and they would begin a relationship. It would be one that would grow into a love that could last a lifetime. Besides an obvious physical attraction to Carrie, Caleb found that Carrie had an amazing personality and she was so easy to talk to.
Once Carrie really took the time to get to know Caleb, she began to see qualities in him that were very appealing. They also looked great together! Caleb and Carrie would not only become best friends but they would also become man and wife! Life together began in the usual way with both Carrie and Caleb working full-time. Carrie had actually brought a daughter from a previous relationship into their own. Braelynne, who is now 12 years old, was so excited that her mom and Caleb were to be married and they would quickly become a family of three. Braelynne would grow to be a jewel of a young lady and her presence in the family was one that was treasured by everyone. Caleb would quickly become this young family’s rock. Working in a family owned business, he was a third generation employee at the D.G. Fowler Electric Company. Caleb would rise to the position of Projection Manager at the company that was now owned by his father. Things were shaping up and life together was beginning to look like one that was full of love and promise. Certainly, it was that. It would be in the early months of the year 2014 that the Fowler family would receive news that took them by surprise. Carrie was pregnant and this surprise was met with the approval of everyone. In other words, they were all excited and no one more than Braelynne. She would soon learn that she would have a little sister to love on and to help mom with. Things were going to go from good to great!
Everything would go well as the months passed by and the excitement over the delivery of the baby grew. This as mom’s tummy continued to grow as well. However, there was a different type of excitement that would begin to take place as the delivery day arrived. It was the beginning days of 2015 that the big day was drawing near. Carrie was previously shown to be one who carries smaller babies and her doctor considered her expectant baby to be a higher risk pregnancy. As a result, the doctor wanted to induce labor at Cobb Hospital in Austell, Georgia. Carrie’s baby would be delivered on January 9th of 2015, but it would not be without complications. It was during her labor that Carrie’s blood pressure would plummet and the baby’s heart rate would drop with each contraction. This would obviously turn a normally joy filled experience into one that is quite scary. Caleb and Carrie’s baby girl, who they would name, Haidyn Grace, was born at 9:11 a.m. This brand new princess had the umbilical cord wrapped around her neck and that caused her to be purple in color at birth. She would weigh in at a lower weight of six pounds and two ounces and she was not breathing well. The doctors would allow Carrie to hold her baby for about thirty seconds and then, she was taken to NICU. Little Haidyn’s vital signs were all good but she was fighting to breath on her own. Haidyn Grace was said to have underdeveloped lungs and she was placed on a ventilator. Her little entrance into this world had begun in dramatic fashion. It was too early to think about what the future may hold for her at this point. Everyone just knew that she needed to get better. Haidyn would improve. She was on the ventilator for seven days and in NICU for ten days. It would then be time to take Haidyn Grace home.
I'm always curious to know what the experience is like for the mom I am writing about as she holds her infant son or daughter for the first time. The bond that develops between a mom and her baby begins to take shape as the baby develops during the pregnancy. Giving birth is a special experience and being able to hold your baby for the first time is one that is like none other. Carrie would tell me that the experience of holding baby Haidyn for the first time was both beautiful and scary. She explained her feelings with this, “In that moment I loved her fiercely and immediately but I also had no idea why she was struggling. Those ten days were so long and we weren’t able to hold her in the NICU for the first two of those days because she would become so upset and her vitals would take hours to return to normal after an upset.” Just as any set of parents would be, Caleb and Carrie were excited to be bringing Haidyn home for the first time. The doctors had found her to be healthy enough to go home after the short stay in NICU. Carrie stated that they were overjoyed to be bringing Haidyn home healthy and ready to grow. There is no way that this young couple could have known what else the days and months ahead would bring. There would be a lot of love that was poured out on Haidyn. This, as she brought challenges that never could have been expected. They lay in wait for her future even as she continued to grow. One thing was for certain and that is that Haidyn was a beautiful baby girl. She, along with her big sister, were both a great source of pride and joy for Caleb and Carrie. Haidyn would grow and develop normally in the first months of her life but a problem would begin to show itself at around eight months of age.
Carrie noticed the issue as Haidyn had begun to pull herself up and walk along items in the house. Haidyn stood on her tiptoes as she walked and Carrie felt that to be a little different. Of course, the issue would be discussed with the pediatrician and as one might guess, Haidyn’s parents were told that this was normal. They were assured that Haidyn would bring her feet down when she was ready to do so. Carrie stated that Haidyn did eventually bring her right foot down but her left foot still remained very stiff and arched. Through their persistence, Haidyn was finally referred to see a physical therapist in order to have the issue evaluated. MRIs would be performed in order to rule out cerebral palsy or spinal issues and x-rays were done to take a closer look at her leg. In the end, Haidyn would be said to have an Achilles tendon contracture and it would be around 18 months of age that she would undergo surgery. According to Carrie, this was to “cut and stretch” the tendon so that Haidyn could bring her foot down and walk correctly. The Fowlers would begin to experience a series of issues with Haidyn that most would consider to be normal challenges that could be met.
Troubles for Baby Haidyn
Several things would occur with their princess that considered individually, would be something that could be expected in early childhood development. However, what if several issues continued to mount, one on top of the other? It was around eight months of age that Haidyn started to have issues with consistent ear and upper respiratory infections. To make matters worse, it seemed that antibiotics never cleared up this issue. This would require another surgery, albeit one that is commonly done in children. It was about a week before the surgery on her tendon that she would have tubes placed in her ears. She also had her adenoids removed during that surgery. Sadly, the problems in this area continued and as a year passed, it was advised that a sleep study be done on Haidyn. The findings of the study would be that she had severe sleep apnea. How discouraging this must have been. This perfect princess had already been through so much and now it was found that she had issues with her sleep. Haidyn would go on to have her tonsils removed and she would also have surgery to have the tubes placed in her ears for the second time. As a year had passed, it was noticed that her adenoids had grown back completely. Carrie said that even the ENT doctor was shocked that this had happened. It was after that surgery that things would begin to calm in that area of Haidyn’s health but the problems did not go away completely. She still had mild sleep apnea and also, there were occasional ear and upper respiratory infections.
This little lady was having a rough go of things but there was no reason, at this point, to have anything but a positive attitude concerning her future. And still, the problems would continue to mount. It would be at about two and a half years of age that Caleb and Carrie would notice something else in Haidyn. It seemed to them that little Haidyn had an apparent speech delay. She just didn’t have the vocabulary that one would expect at that age. The pediatrician felt that this was due to all of the ear infections that Haidyn had suffered throughout her young life. It was thought that the build up of fluid in her ears had obstructed her ability to hear. Carrie said that a screening of Haidyn’s hearing was performed but she would not cooperate and so, the testing revealed nothing. They would also have Haidyn evaluated by a state funded therapy service named Babies Can’t Wait. However, she would not qualify because she did not score low enough on the evaluation. It was too early to attempt to tie together the issues that Haidyn was experiencing. Certainly, there are other young children that have to overcome obstacles. At this point, The Fowlers still remained positive and Carrie said as much with this, “... as positive thinking parents, we hoped it would get better with time. I was not overly concerned with major health issues at this age because these symptoms were fairly common in many children, or so I thought.”
One thing was for certain. This family had a special case on their hands but it was not yet time to pin all of the issues to a specific condition. There would be more to follow and another issue that had already plagued Haidyn was related to her gastrointestinal health. Poor Haidyn had a problem with diarrhea and according to Carrie, nothing eased the problem. So many problems with one little person already and this all had to be of growing concern. Carrie would take Haidyn to see a GI doctor where Haidyn would be examined. Many things were ruled out and the only finding that came from the testing would be that Haidyn had a mild dairy allergy. Her parents would remove dairy products from her diet and it did help quite a bit. But still, as Carrie stated, Haidyn would continue to suffer from this issue, even to this day. The problems didn’t end there. It would be around the age of three that Carrie started to notice other things in her little girl. Carrie said that in addition to her speech still being delayed, Haidyn appeared to be having a sensory processing issue. She also had an eye that seemed to be extremely lazy.
What would it be like for any of us if we had all this to deal with in one of our children? Our attention would definitely be focused on that child and we would be on the alert for other things that may arise. I have said it before but it is worth repeating here. A child’s life should be filled with laughter and innocent fun as life’s lessons are learned. This should have been the case with Haidyn but the fact was that she was also having bouts with fear and separation anxiety while at daycare. Carrie stated that it was extreme and something that could not be explained. Why would a little girl be suffering with such a thing? The issue and how Haidyn was able to do at daycare became a real problem. This caused Carrie to make the decision to leave her full-time job. She instead became a stay at home mom and Haidyn’s full-time caregiver. Carrie would begin to do daycare to aid in making ends meet and having other kids around would help to reveal other things that would be of concern. She would take in children that were of the ages 4,2, and 18 months. Having these other children around helped Carrie to see that there were differences between them and Haidyn. One thing that really stood out was that Haidyn’s speech was behind that of even the two year old that was being cared for. Also, her lack of understanding and the lack of ability to hold a conversation stood out. Carrie further describes what she was seeing with this, “She loved the other girls and was so good with them, but I noticed that she did not play appropriately. She did not seem to understand pretend play at all and she would engage with them but also played or kept to herself. Her anxieties continued to worsen as well, whether it be at home or out in public.”
It was then that the summer months of 2018 and the issues with Haidyn were continuing to mount. It would be in August that Carrie made an appointment for a developmental assessment. She wanted to discuss all of her concerns with Haidyn’s pediatrician. With Haidyn, many of the issues that were affecting her had shown no signs of progress and in some cases, they were actually getting worse. Carrie said that her doctor was very patient while listening to all of her concerns, and there were many. While there, the pediatrician examined Haidyn and she would discover that she also had a small heart murmur. Was this an issue that was related to a larger problem? There were so many different things to deal with at this point. How could one little girl have so many concerns going on at one time with her health and development? I was amazed to see the number of referrals that Carrie was given at the end of that appointment. Here is what she was given for Haidyn, “We left that day with referrals for cardiology, ophthalmology, therapy for speech, physical and occupational, and testing for autism and sensory processing disorder.” Oh my gosh! Can you imagine having to set up so many appointments at one time? That would be enough to make a person’s head spin but this is Haidyn the princess that we are talking about. Carrie had no other choice but to forge ahead. That September they began therapies for Haidyn and they enrolled her in early intervention preschool.
Searching for Solutions
Carrie and Haidyn had attended all of the appointments that they were referred to and the outcome of each one was varied. The cardiologist had not been alarmed by Haidyn’s heart murmur and would rule it as being innocent. She was diagnosed as having weak eye muscles by the eye doctor and Carrie was given a prescription for Haidyn to be fitted with glasses. The bigger picture for Haidyn’s total condition was also dealt with. It would be in October of 2018 that the Fowlers would receive an initial diagnosis for Haidyn. It was thought that there were three different things that, all combined, were working against her. Haidyn was diagnosed with severe autism, global developmental delay, and sensory processing disorder. Carrie shared her reaction and talked about her guarded optimism with the following, “I was not completely shocked but surprised that the autism diagnosis was labeled severe. Haidyn didn’t seem like the average autistic child but I also knew very little about autism. We were thankful for answers to our many questions over the course of three years and had a positive outlook with the help from school, educating ourselves for her future and therapies.” These things were all issues that could be dealt with although they would impact Haidyn’s quality of life. Even so, she was so loved by all who knew her. Haidyn’s family would do what was needed to make sure that she had the support structure that was necessary.
The Fowlers would see some positives happen in the following year. Carrie said that they would push ahead with the therapies that showed promise. This would leave them feeling optimistic even though “public outings and get-togethers were difficult for and with Haidyn.” This could be expected with a child that has autism. The spectrum of autism is so wide and one never knows with autistic children. There is one thing about kids with autism and that is they get accustomed to set routines and anything that upsets that routine, upsets them. This would happen for Haidyn as July of 2019 rolled around. Things would change for the family and Haidyn as a move would take place. As Carrie stated, everything changed in Haidyn’s world overnight. This is how Carrie put things to me, “I knew we would be in for a challenging time after everything she had ever known, changed overnight. Her normal routine was completely thrown out the window and we all know that special needs children thrive on routine and struggle greatly with change. Her family situation was completely the same. Mom, and dad, and big sister were there and she was still seeing her therapist at the same location. This being said, her surroundings were completely different and she had started to attend a new school in August. Carrie said that she wasn’t surprised that she had seen regression in Haidyn’s behaviors. And still, she felt assured that things would return to where they had been “with time and consistency.”
Carrie had remained patient and she had dealt with things as they came their way. Haidyn was a challenge but she was so loved as the little princess in the house. The weeks turned into months and it seemed that little if any progress was being made. The summer months had faded into fall and the advent of winter was on the way. Both Caleb and Carrie felt burdened over Haidyn’s issues and knowing what to do was escaping most everyone. Here is what Carrie had to say about the feelings that she was experiencing, “Around December, I started feeling extremely heavy hearted for Haidyn. I was unsure as of why exactly but something seemed wrong. Therapies showed little progression, school was still a nightmare despite wonderful teachers and staff that loved her dearly, behaviors were draining for her and us as a family. She seemed to be losing more speech, struggling more physically to walk,and move and with clumsiness.” A mother’s intuition is most often, spot on. Carrie knew that there was more going on than what had been thought but what was it? Why was it so hard to find solutions? The things that would help most any autistic child were not working with Haidyn. To this point, they had received a lot of help in trying to determine what would help Haidyn but improvement was not showing itself.
Therapy appointments were a challenge. Carrie remembers being in the waiting room, trying to update Haidyn’s information. The questions were becoming difficult to answer. There were so many different things both behaviorally and with Haidyn’s health that needed attention. What was the priority? What was the most important thing to address? What were they going to try next? There was more that was going on with Haidyn than just autism. Yes, the spectrum of autistic behaviors is wide but there had to be more pieces to this puzzle. More pieces than those that were contained in the box that Haidyn’s doctors had her in. Carrie wanted to see Haidyn “struggle less and thrive more”. Improvement in any area would have been a cause for some renewed optimism but there was none. This mom would start to extend her search for answers as she spent each day at home with Haidyn. With the following, Carrie stated where her search began and what she was beginning to conclude, “In December and into February I began diving in to all of the autism research, books, documentaries, Facebook pages, parent insight and more. I wanted to understand her more so that I could help. I completely agreed that her autism was severe at this point but the more I researched, the more I felt that she wasn’t an easy description of severe autism. Something still seemed... different.”
It makes sense that parents are the best advocates for their own children. After all, this is their own flesh and blood, their own child. Their kids get the priority that otherwise might not be given by others. Is there something to a mother’s intuition? Of course they would know if something didn’t make sense. That is, if something was being missed. The stress was there and with that, Carrie questioned herself but her determination moved everything forward. She described that time in this way, “During this time frame I found myself diving down a deep rabbit hole and I really wasn’t sure if I was losing my marbles due to stress and anxiety or if I might be on the right path. I started questioning her medical history and went through, dissected and fact checked every single test, lab result and diagnosis she was given from birth until the current date.” Nobody but a mom will take the time to dig into the details the way that Carrie did. No one knew Haidyn like she would. Carrie said that she researched every type of medication that Haidyn had taken and every type of vaccine that she had received. She wanted to know if there were any side effects that may be affecting her daughter. She started taking a more holistic approach to dealing with the symptoms in hopes of bringing about positive changes in Haidyn’s health.
No One Like Mommy
Carrie’s search for answers became an obsession. Her own actions would prove to be pivotal in solving the puzzle that was her daughter’s health. Doctors had not yet thought about the fact that Haidyn may be affected by a genetic disorder that caused the regression of skills. They had simply given her a label. It was Haidyn’s mom, Carrie, that started to think in these terms. Supported by a loving husband that listened and believed in her, Carrie continued her search, looking into the area of genetics for a possible cause. She explained in this way, “I began researching genetics and how your genetic makeup can play a huge role in everything about your body and what you are affected by. I hardly slept and hardly ate because I became obsessed with trying to understand and find a grasp to hold on to with helping Haidyn. I’m thankful my husband always trusts my instinct and my judgment because he allowed me to sound like a crazy lady, spewing information, theories, questions and hypochondria for several months. He never once doubted me.” I have made the statement in the past that there is no love like a mother’s love. After all, a mom carries her child in the womb for nine months and there is a maternal bond that is stronger than any other. Certainly, there are some great dads out there and Carrie had one of those by her side. Determined but not completely sure, Carrie looked for the help from a higher source. She stated so in this way, “I did start to doubt myself though and thought maybe my anxiety was winning. I prayed one morning in early February, on the way back from taking Haidyn to school and asked God to please keep me on the right path if there is more to what’s going on with my girl.” You can take away from this the fact that this mom was looking for all of the help that was available to her. She explains further, “All I wanted was to either help her or find acceptance and release the heaviness that hovered over me.”
Carrie was given the opportunity that she had sought as another doctor’s appointment approached and this would lead to the big turning point. It would be in February of this year that little Haidyn was scheduled for a wellness check. This was Carrie’s opportunity to discuss her concerns with Haidyn’s doctor but as she did so, they weren’t seen as being completely valid. This is what she had to say about the visit. “We discussed some of my concerns and I was, kindly, brushed off and also reminded that my little, thick and tall girl was considered obese. I was also questioned about my request for a referral to see a geneticist and have testing done to check for any underlying conditions.” According to Carrie, many still find genetics to be experimental. Even so, Haidyn’s doctor reluctantly provided the referral that they had sought and that would eventually lead to some findings that would alter their lives forever. On March the 20th of 2020, they brought little Haidyn to see the geneticist for what would be an entire two hour visit. Carrie said that they discussed family medical history along with all that they had experienced with Haidyn. The doctor examined Haidyn while asking one question after the other. One of the things that came up as the questions were being asked was the fact that Haidyn had a great aunt that died in her teens. This aunt died of something called Hurler disease. Hurler is one of the forms of MPS (Mucopolysaccharidosis) disease. Hurler is MPS 1. This falls into a larger group of diseases which are called lysosomal storage disorders.
To explain in simple terms, the cells within our bodies contain something called lysosomes. Normally, lysosomes have within them an enzyme that is responsible for waste removal within the cell. In the case of a lysosomal storage disorder, the key enzyme is absent and that ends up wreaking havoc on the body. This is especially true as it happens within the brain. In this case, wastes within the cells that are normally disposed of are instead, stored up within the cell. Oh, my gosh! That leads to real problems. These diseases are rare because both parents have to be carriers of the defective gene that causes the disease. The same gene! Carrie knew the name Hurler disease through family medical history but neither her nor Caleb knew what the disease consisted of. Carrie stated that fact in this way, “We knew nothing about Hurler and had never considered it to be related but felt it worth mentioning due to the family, medical history questions asked.” The doctor asked to see pictures of sweet Haidyn from her birth and then each year after that. One thing that the doctor kept mentioning was the fact that Haidyn’s facial features were coarse. She also mentioned how Haidyn’s medical history fell in line with the family of diseases that I mentioned above. That is lysosomal storage disorders, also known as metabolic diseases. Knowing what Carrie knows now, she believes that the doctor was on to something at the time of the appointment. As she stated, “I believe the geneticist knew when she first saw Haidyn, that she would be diagnosed with a form of MPS. I, on the other hand, had zero idea what she meant by coarse facial features and metabolic disease did not sound too intimidating at the time.”
Carrie had already been doing research on her own and the information given to her by the doctor gave her more to look into. Haidyn’s mom is the type that researches things of this nature, especially with wanting to know what she was up against with Haidyn. Most any parent will be curious to know what the facts are in order to see where their child stands and to know what they are looking at as a family. Most of all, Carrie wanted to know, is this what is taking place with her baby girl. She explains, “That night when we got home, I began to look up metabolic diseases and then followed through with researching the diagnostic codes listed on the paperwork from our appointment. I came across Hurler Syndrome and Sanfilippo Syndrome. They are both just about the same diagnosis, in regards to symptoms, how the disease works and the fact that they involve a missing but crucial enzyme.” The only difference, where it concerned Haidyn’s health, was which defective gene it was that she had inherited. As Carrie took the information and continued her research, she was faced with the truth concerning sweet Haidyn. All of a sudden, the answer was right there on the computer screen. She was all at once shaken by the reality and she explained with this, “When I researched further and found pictures of children, along with a list of symptoms and signs, my heart shattered. I knew it in my heart that my baby would be diagnosed with one of the two. I immediately understood the term, ‘coarse features’, because Haidyn looked just like every other child with these diseases. Her medical history fell in line to a T.”
Carrie said that for Caleb’s part, he didn’t want to know everything that they might face without having the diagnosis. He instead, wanted to process things more slowly. Because of the research that Carrie had done, she was certain that Haidyn had a form of MPS. Carrie feels that it was at that time that she began the grieving process. This, before they ever received the confirmation. It was with much sadness that the day would come when Haidyn’s condition would be confirmed. Parents usually do not quickly forget dates like the day that the Fowlers received Haidyn’s diagnosis. Three weeks later, on March 25, 2020 at noon time, Caleb and Carrie received the news that sweet Haidyn Grace had Sanfilippo Syndrome Type A. Hearts were shattered one by one as each close family member and friend received the news concerning Haidyn. This took place over the course of a few days. Carrie felt that it was painful to grieve within herself but it was even more difficult to have to share it with others. “Heart shattering” is the term that she used repeatedly. She described the response of others in this way, “Everyone is heart broken and wants to be there for you and you are heart broken wanting to be there for them. All because one, beautiful, innocent and deeply loved child was given a fatal diagnosis and life expectancy of up until her teenage years.” This beautiful little girl that was loved by so many was now not expected to make it past her teens unless progress was made towards a cure. The results would be brutal even if they would take place over the course of a few years. Haidyn’s skills had already begun to be diminished by what they had not yet known. Now, the family knew that at some point they would be taken away completely. All of them! The disease is sometimes referred to as being a form of childhood Alzheimer’s and so, along with Haidyn’s physical abilities, her mental make-up would be greatly affected as well.
Grief Turns to Action
This writer generally researches subjects that he writes about and I did do some research on MPS disorders for this story. It is fascinating how the human body functions at the cellular level. It is also of interest to learn how the entire body is thrown into chaos when our bodies don’t function properly at that level. But then, at the human level, it is completely disheartening to know how families are affected by a condition like Sanfilippo Syndrome. These kids are precious and they are ones that will melt a person inside. That is if a person takes the time to care and to pay attention. People need to pay attention to the plight of families that battle rare diseases alongside these special warriors. People with special needs need to be placed in positions of honor within society and the effort to make their lives better needs to be put forth. And then, kids with rare diseases need to be honored above any others. We need people to place emphasis on ethical forms of treatment and we need cures for these conditions. It all seems overwhelming but we need to try. I am thankful for the research scientists and people in the medical profession that are making a difference. Clinical trials do happen but for the families, they can't come fast enough. I do know what it is like to be the parent of someone with special needs. Having a child that battles a disease that is rare and incurable brings things to a different level of difficulty. The greatest level of love and empathy needs to be felt as we extend ourselves to these families in whatever way is possible.
Just like those that battle Batten disease, the families that receive a diagnosis for their child like Sanfilippo Syndrome find out that they are not alone. They discover that they are part of an entire group of people that exist worldwide. They all at once learn that they are part of a family that they previously knew nothing about. Cure Sanfilippo Foundation is an organization that provides mentorship, knowledge, love, and support to families that have children with Sanfilippo Syndrome. They also raise awareness and funding for clinical research and trials. Cure Sanfilippo is working towards a cure and as with other families, the Fowlers have partnered with them in bringing about results. Sometimes, and especially in this case, the best way to handle one’s own grief is to jump into action and that is what Caleb and Carrie have done. Speaking of that, as this story is being written the Fowlers are preparing to jump out of a perfectly good airplane in order to raise funds for research. Don’t worry though, they each are planning on wearing a parachute. Almost immediately, the Fowlers created a Facebook page called “Haidyn’s Hope - A Cure for Sanfilippo Syndrome”. As Carrie would tell me, the purpose is, “to help better raise awareness and funding, and to share the good, bad and the ugly of our journey.” With the following, Carrie speaks concerning the point that I was trying to make about how some handle their grief through taking action. Here is what she had to say, “Caleb and I have many goals and dreams for our family's journey with Haidyn. Some ask us how we jumped right in and became so transparent during such a devastating time for our family but we are all fighters. We advocate for what we are passionate about and I guess in a way, it helps us process our emotions. We would both drown in depression if we sat around and just accepted this fate for our baby girl. So, we chose to light a fire and we made a promise that the world would know about Haidyn, Sanfilippo Syndrome, others like her and rare disease awareness.”
As one could imagine, there are many difficult days for the Fowlers but there are also days that are filled with good times, as many sweet memories are being made. Haidyn is precious and she is certainly adorable. Seeing that and knowing how her body is being affected brings heartache but she also helps to create a love that is like none other. There is a bond that is being formed with Haidyn that could never be broken. You wouldn’t want it to be! I’ll let Carrie explain things in her own words, “We have many good days but at times we both find ourselves barely coming up for air as reality hits and we are reminded that all we are doing is for our daughter. It’s unimaginable and at some moments still seems surreal and overwhelming. Despite the bad days and all of the feelings that come with it, we choose to fight, find the little glimmer of light, and give Haidyn the best life we possibly can. We made a promise to her and ourselves that no matter how much she struggles, she will always know that she is immensely loved and surrounded by the same amount of happiness and joy that she brings to our lives.” Can you understand why it is that I am drawn to these families and their stories? The details of a type of love that is profound and undying. The ways that these kids affect us all if we allow ourselves to become vulnerable enough to let it happen is unbelievably amazing (I am speaking of those of us that are not necessarily a part of the immediate family).
The Fowlers live in Cedartown, Georgia here in the USA. They are wanting to build a home right next to Caleb’s parents but they have decided to slow things down a bit. This, because of Haidyn’s recent diagnosis and wanting to navigate the journey that they once knew nothing about. I am certain that they will get there. Did I forget to tell you that Braelynne is an excellent big sister to Haidyn? Nope! I was saving that for right now. Carrie stated that daughter number one is the best! She’s understanding and helpful with Haidyn. Braelynne knows what they are up against as a family and she chooses to be unselfish and supportive in the effort that it takes to be a rare family. Caleb and Carrie are grateful to her for this! Let’s also not forget to mention that Caleb is an excellent husband and daddy to both of his girls. He’s a great provider and a source of strength for Carrie. The two of them are best friends. May that never change! Whatever course of Haidyn’s life takes, one thing is clear. Her life will affect the members of her family like no one else’s can. In fact, Haidyn’s life has already impacted their lives and their thinking about the things that are important. Carrie is so well written in her own right. Here is more of what she had to say, “Having a child diagnosed with a rare and fatal disease has changed our lives in so many ways within a few months. Our views, our outlooks on life and our dreams. We truly appreciate each moment here with each other, our girls and our loved ones. The smallest moments seem to stand out and trump the big things that used to matter. We choose to make memories more and buy less. We choose to love harder, always be grateful and complain far less. We choose to conquer fears we once had because nothing is as scary as your child having a fatal disease. We are trusting God more than ever, even when we can’t find understanding in His plan for Haidyn. We continue to have hope because without hope, there is nothing.”
I think that we all seek to have a settled, somewhat ordinary existence. We want to pursue the things that will make us happy. Most people want to have a family and they want to be able to provide for those that make that family up. We pursue leisure activities that bring pleasure and involving our kids in those things brings happiness and lasting memories. We do not go into the whole thing expecting there to be troubles like those that are faced by a family with a rare child. All are special because they have to deal with life as they work through the heartache. I have said so many times that the parents of kids with rare diseases amaze me. This, because they most always bounce back from the despair that they feel over having been given the news. They battle back and then they do the very best that they can for their own child. Sometimes, in taking up the work of an advocate, a rare family will end up doing things that benefit others. Caleb and Carrie have already given this their very best as they do the best that they can for Haidyn. They have given it their all and they have made a difference. Carrie explains, “In such a short time we have already started down a wonderful path of raising awareness. We’ve seen our family, friends and even people we hardly know or don’t know at all come together to share our journey, help raise awareness, educate themselves and help us raise funds for clinical trials and treatments. We have been able to educate not only Haidyn’s medical team but other medical professionals, therapists, educators and more about Sanfilippo Syndrome.”
The Fowlers would give anything to see Haidyn completely healthy and whole. You can see why she would be adored by anyone who knows her. This is another special family that is doing their very best under very trying circumstances. They feel the love that people have for them and their daughter Haidyn. Sometimes, you have to look for the positives in a situation that is at its base level, something really negative. The big positive for the Fowlers is to see how Haidyn’s plight brings the good things in others to the surface. Carrie explains, “We have felt an overwhelming amount of love, prayers and heartfelt gestures for not only Haidyn but our entire family. This journey is devastating and I think our hearts will always be broken, but it has shined a beautiful light in our lives as well. Our dream as a family is to live a life in honor of Haidyn. She is too beautiful for this harsh world around her and we hope to shed beauty and light to everyone we encounter, in honor of her.” The other positive is just having time with Haidyn. I love my son with special needs to the moon and back. We have been spoiled by the time that we have had with him. Time spent together is even more precious with someone like little Haidyn. She is a special one and she is worth all of the extra effort that it takes to care for her. Awareness, yes, but drawing attention to the love stories that are created by these dear families as they care for these children. It’s worth every bit of effort that it takes. I wish the Fowler family all of the best with little Haidyn. Another one to melt your heart, that is for sure! I really appreciate this opportunity and I look forward to having more of them. Welcome to my blog Sanfilippo Syndrome families, as well as, those in the entire MPS community.
Blogger and Advocate
“The EEG and Neurologist visits are all kind of a haze to me. We were in this ‘nobody knows anything’ cycle. Seems we would never get any solid answers, just maybe it’s this, it could be that, etc.”
I am sure that some are tired of me posing the question. Is it them or is it us? I originally asked the question wanting to have a better understanding for myself. When it comes to kids that have a rare disease such as Batten, is it they themselves? Is there something different about them? This, versus a child that is free to develop normally, without being hindered in any way. Is it us in that knowing their plight causes feelings to develop in us that are deeper than any other? I have been the proud parent of a person with special needs for thirty years now but when it comes to kids with rare diseases, there was much more that I desired to know. Going through something like what these families go through. That is something that you have to experience first hand in order to completely know the answer.
Family is so important. This is true for different reasons throughout the aging process. Generations come and go and we are connected to each other in different ways as we travel through time. First being parents and then grandparents. Perhaps we are a favorite aunt or uncle in the family. Being first time parents, or even young parents of more than one child, is an experience that most often makes being together complete. Looking forward to all that life entails and experiencing all the events that will take place, that is what we live for. As men and women, we work to support our families. While what we do outside the home sometimes brings us pleasure, the work that we do is done to support the experience of being together. Looking on as we watch our children grow and achieve each milestone in life brings joy that can only be felt through that experience. If everything goes according to plan, we move from the roll of parent to that of being a grandparent. Grandparents are cool! They are the most funnest people to be around when you are little. Their houses are the best ones and they are the most fun to be at. There are many adventurous things to do at grandpa and grandma’s house. Searching through the closets or swimming in the backyard pool. Maybe there is a basement that you like to go down into or or a huge tree that you enjoy climbing in. No matter what, you hate when it’s time to leave on any given day but you know that you will be back.
Mom and dad are great but your grandparents are the coolest people ever. There is major spoilage that often takes place with them and you love every minute of being there. As grandparents, it’s pure joy to have these little people in your lives. You worked at being the best parents that you could be and now you have been rewarded with having these little people in your life. You don’t mind answering all of the questions that are asked. In fact, you look forward each day to the interaction with your grand-kids. It is so true that it is much better to give than to receive and here is your opportunity. You give and you give. From your time and your resources. Those tiny faces looking up at you is a great source of pride and having little people in your life makes life all the more worth living. Time spent with grand-kids is time that is well spent and the time spent all together is something that is precious to everyone. Being together, different generations sharing in the experience of being a family.
No matter where you are in the generational experience, having children in your life is special. Whether looking at them as they take in all the wonders of the world they are now a part of, or watching with pride as they achieve the things that you had hoped for. This is in large part, what we were put on this planet to do. Being a family. When things go well, we enjoy those things together. It is also true though, when tragedy or difficult circumstances arise, we experience those things together as well. The heartache is shared as feelings are experienced by all. Some are asked to go through things that are not experienced by the many and that puts people in a class that is unique, even if it is something that is not desired. Let’s get right to it. What if that child, and sometimes more than one, is diagnosed with a disease that is rare and also fatal? All at once, that which is experienced together is something that no one could have expected to happen. But then, it does happen! Things begin to unravel and that brings despair to everyone that is involved. This was not expected and your life is all at once, different than what might have been imagined. Despair will eventually give way to determination, even while the heartache remains. One foot is put in front of the other and people press on. Even if only for what is best for that rare child that has been placed in your trust.
Is it them? Is it us? I mean are these rare kids no different from your average child? Is it merely that knowing what they face brings out feelings in us that are like none other? I tell you what, I think that both are true. It is them and it is also what they do in us. They certainly do produce feelings in us that run very deep but watching them and learning how they deal with their own circumstances, that often causes us to be amazed. How they find joy in living even when things are difficult. How they bounce back from setbacks in their health and do so with a smile. They teach things like knowing what is important in life. Can you smile when it becomes difficult to walk or even move? Can you find joy in living when you no longer have your eyesight? The bond that is created under these kinds of circumstances is stronger than most any. Knowing what these kids go through produces feelings in us that are like none other, and knowing that time together may be limited intensifies those feelings. As the disease progresses, so does the heartache. The feelings intensify but you just take everyday, one day at a time.
Some, if not all, would be willing to trade places, just to see their rare child well. It doesn’t seem like anything good can come from this experience and perhaps, that is true. This experience, however, produces a strength of character that can’t be erased and memories that could never be forgotten. They produce a type of love that is profound and undying and these children and their families need to be honored because of all that is experienced. I may frequently repeat the things that I have already stated but I do it for good reason. This next story is about another family that faces a rare set of circumstances. They are not ones that had been expected. They are finding strength in each other through an experience that is shared. They are being strong in something they never would have expected because after all, they have no other choice. There is joy in the midst of the struggle, and they are experiencing that together as well. Let’s begin their story.
Plans Quickly Fade
Sean Bruner and Trista Stephens met for the first time while attending a friend’s wedding. Sean was a guest at the wedding and Trista was the maid of honor. That was on April the 3rd of 2011. The furthest thing from Trista’s mind at the time was that of getting into a serious relationship. This because she had just gotten out of a relationship and had wanted her own space while she considered her future. Events don’t always happen as we plan them and that would be the case for Trista as she met Sean. They saw something in each other during that event and that sparked an interest in one another. They exchanged phone numbers and would eventually talk over the phone about a week later. Trista had left a return voicemail and Sean, being the romantic that is, still has that voicemail. It was in that voicemail that Trista had explained to Sean that she had just gotten out of a long term relationship. She went on to tell him that she wanted to be friends only at that time. To keep things safe, Trista invited Sean to a Birthday party that she would be attending and Sean accepted the invite. They spent time together at that party and Trista’s plans for just remaining friends with Sean quickly faded not long after that.
Trista just couldn’t take her mind off of Sean as she had seen things in him that were genuine and very appealing to her. They seemed to really hit it off together and would soon go on an actual date. That date was at the Island Way Grill in Clearwater, Florida. It would soon become a favorite place for both of them. At that time, the conversation just seemed to flow and the two of them connected in a way that would be lasting. That first date would be the launching pad for a life that would be spent together. Sean said that the conversation between him and Trista was “so easy”. He included the fact that the waiter would have to come to the table a third time before they placed their order. First things first! After that first date, they were together all of the time. It wouldn’t take long for them to realize that this was it for both of them. True love. Trista stated that she had just gotten into an apartment of her own and Sean would spend a lot of time there. The two of them would search for a condominium that they would share as Trista’s lease came due a year later and they would be engaged to be married in July of 2012. This was for real!
Sean was not one to do things half way and so he wanted the engagement to be something that would be remembered. Of course with being in Florida, that would involve the beach. I’ll let Trista describe the event in her own words. Here is what she had to say, “Sean planned a whole surprise at the beach, he had an artist draw a caricature of us, with him on one knee and behind us, were my parents and his sister holding up signs that said ‘will you marry me?’. It was a perfect day!” Both of Trista’s parents, Ron and Lisa Stephen’s were “over the moon” concerning Trista’s engagement to Sean. They had seen in Sean the same kinds of things that Trista had and they knew that he was the one for their daughter. At the time, Ron and Lisa had been married for well over thirty years and Trista was their only child. Trista was a huge part of their world and knowing that their daughter was happy made them happy as well. They both had to believe that things were coming together for them as a family as they looked forward to the big day. The happy couple would be joined together in marriage on April the 6th of 2013 and the event would include a special celebration after they exchanged their vows.
Both Sean and Trista had come from marriages that did not last but there were never children involved. Having kids together is something that they wanted to experience in their marriage. It wouldn’t take long to experience being first time parents as that would follow in the not too distant future. They left for their honeymoon the day after the marriage celebration and Trista would become pregnant right away. However, that first pregnancy ended in a miscarriage. It would be immediately after that in which Trista would become pregnant again. This time, the pregnancy would progress normally as all would go well! Their family was getting ready to grow in number by one and that is a big event for any couple. It was in the course of this pregnancy that Sean and Trista decided that owning their own home was the thing to do. Their life together was growing beyond their rented condominium. Their first house became a reality in December of 2013 and they didn’t waste any time in getting it ready for the new baby. This included renovating the nursery prior to the delivery of their new bundle. Trista would tell me that as all of this was taking place, she would become VERY pregnant. That means that it was time. She would deliver a baby boy to this family. They had a son and they would name him Colten.
Mister Colten was a big baby, weighing in at nine pounds. He made his appearance on February the 7th, in 2014. Colten was a perfect little man. He had all of his fingers and toes and he came complete to the showroom floor having that brand new baby smell. His parents were so happy. Especially Trista as she had to work extremely hard to deliver Colten. Her labor lasted 16 hours and she was pushing for three hours of that time. Trista explained the long delivery time in the following way, “No wonder he took so long! My doctor had assured me that with my body type, there was no way I would have over a 7 ½ lb baby. She was very wrong!” To say that Trista was overjoyed to be done with it would be an understatement and you just know that big Sean had to be elated. He was the very proud father of a son and that left him beaming from the inside to the out. Both sides of the family would be so happy for Sean and Trista but it happened to be Trista’s mom that would soon hold little Colten. There were pleasant thoughts of having grandkids and those dreams had become a reality. Trista’s mom, Lisa, describe the experience of holding Colten and the bond that would take place in the following way, “I never knew I would love another human being so much until Colten was born and minutes after he was born I held him and the bond was formed.”
Life was, all at once, changed from being good to being great. Here was this couple that had each found the love of their life and they had family by their sides to enjoy it with. Now there was a little man for all to enjoy as they watched him grow and develop. Colten’s delivery had been a difficult one, given his size but when it came to his little man disposition, he was a great baby. The months would come and go and the joy would continue as they watched Colten grow. The entire experience was just as it should be. Their little man would sleep through the night early on and he would reach all of his milestones, just as one might expect. Colten even started to talk at an early time in his development and he would say the cutest things. The time spent with Colten and his mom and dad was time that was cherished by Ron and Lisa. As Colten’s first birthday was approaching, the happy couple decided that it was time to start trying to get pregnant again. Trista felt that with Colten being such a good baby, they would want to duplicate the experience if they could. Not only that but Sean had felt that they would want their children close together. Sean and his sister Michelle had been born close together and were, in fact, close to each other in their relationship as siblings.
The Family Bond
Colten was loved by his grandparents on both sides of the family but due to distance and circumstance, Trista’s parents would become especially involved. The bond that would develop, even between Sean and the Stephens would become very close. All of us who are parents learn that there are things that take us by surprise as time goes along. Part of being involved as moms and dads is dealing with the unexpected. Sometimes things can occur that are more than we can bear on our own and it’s nice to have help when this happens. As a family, no one could have known what the circumstance surrounding Sean and Trista’s next child would involve. Ron and Lisa’s support for this young family would prove, very soon, to be invaluable and very much welcomed. As Colten’s first birthday arrived, Trista was well into her pregnancy with the second child. This little family was really taking shape and both Sean and Trista were excited with the fact that their family was growing. Trista’s next pregnancy was a mixture of difficulty and ease. Unlike her pregnancy with Colten, Trista had a big struggle with morning sickness. This lasted 22 weeks into the pregnancy and Trista thought that it would never end. During the pregnancy Sean and Trista would learn that they were going to have a girl and they were “over the moon” concerning the news. How wonderful it would be to have two children, both a boy and a girl. They would be close in age and that would duplicate what Sean had experienced growing up with his own sister Michelle.
Aside from the terrible morning sickness that Trista had experienced, her pregnancy progressed well and the time would soon come for their baby girl to make her entrance into this world. Trista’s doctor decided to approach the baby’s delivery with caution because of Colten’s size as a newborn. It was feared that the same type of difficult delivery might take place if her 2nd baby was as big as Colten was. The doctor wanted to induce Trista’s labor at 39 weeks to help ease the delivery of the baby. It was on September the 5th of 2015 that they would check into Saint Joseph’s Women’s Hospital in Tampa. Whereas Colten was a very difficult and tiring delivery, Sean and Trista’s baby girl would make her entrance into this world with ease. They had arrived at the hospital in the morning and by lunch time, their new baby had made her presence a reality. It only took three pushes and their bundle was here weighing in at a petite seven pounds and one ounce. They named their new little princess Tessa! Just like Colten had been at his delivery, Tessa was perfect in appearance. She was perfect and at the same, perfectly beautiful. Her little nose was tiny and adorable and she had the most beautiful blue eyes. Sean and Trista looked at their new daughter and thought to themselves that their family was then complete! Trista explains their reaction to seeing Tessa for the first time in this way, “When they put her in my arms she immediately stopped crying. She was so calm. I cried with Sean and my mom over how absolutely beautiful and perfect she was.” In fact, she was beautiful and yes, so perfect in every way. All at once, this brand new baby girl was the object of everyone's adoration.
Being Colten’s grandmother had made Lisa's life feel so complete, however, seeing baby Tessa for the first time brought things to a new level for her. The love that she had felt for baby Colten was now multiplied by two as she held Tessa. She described what being a grandmother of two meant to her as she held her granddaughter for the first time, “I held her minutes after she was born and the bond was formed. A bond so strong nothing can break it. My love for these children runs deep. They are my world.” The bond that would grow with these two children would only serve to increase the bond that everyone felt towards one another. Activities done as a family now involved these two children and it brought fullness to what everyone would experience. Tessa would grow and develop in the way that one would expect over the first year of her life. There was nothing that one would consider to be a red flag even though everyone did see some differences in Tessa as compared to Colten. One thing was that she didn’t sleep well like her brother did early on but as Trista noted, some babies sleep better than others.
Tessa reached many of her early milestones, just as one would expect. She crawled and sat up right on time and would begin to take flight just before her first birthday. Tessa was always happy and smiling and she brought so much joy to her family. So many of her baby pictures included a little smile and that made everyone else smile. One thing about Tessa was the fact that she was always into things once she started to walk. She seemed to be on the adventurous side while Colten had been reserved and well behaved early on. He would never, for instance, touch things on the shelves while Tessa would grab everything in sight. Her level of physical activity was very high as well from very early on. Trista explained with this, “She would climb everything she could. I always had to have an eye on her or she would be at the top of the book shelf! We always said she’s our crazy girl. She had endless energy and has always loved being outside. Her favorite thing to do is go down the slide. If I gave her the option, she’d stay outside all day long.” Did the family just have a busy little person on their hands? Was Tessa someone who might be termed as a “doer” as she got older? Would she be one that you could count on to get things done? Whatever the case may be, this family had someone who was very special on their hands. Sean, knowing this, had the following to say about his daughter, “Tessa was definitely our wild child. I always said she was either going to rule the world or burn it to the ground. Zero Fear. First to climb to the top of anything or leap off of it.” Was Sean up to the challenges faced with Tessa? He loved his little girl a whole bunch and he would give it everything that he had. Life was good, although everyone was getting busier by the day.
There are a lot of children that develop, perhaps a little more slowly in certain areas. A child’s speech is one area where differences may exist although there are certain expectations that one would have for any child. One of the concerns that Trista had about Tessa was that she might have a delay in her speech. She of course based this feeling on the things that she was observing in Tessa. Again, she had Colten’s development to use as a basis for comparison. Trista noticed right away that Tessa was unable to mimic certain sounds that were considered to be the basics. Here are the examples that she gave, “I would say ‘the cow says moo, can you say moo’ and she would say ba. Things like that were when I started to get concerned. She also was only saying dada at 18 months old and no mama yet.” Was this attributed just to a speech delay or was there something more involved taking place with Tessa? Sean and Trista would have Tessa’s speech assessed because of their concerns, however, they would be unable to get her into any type of program. This, because she was seen to be intelligent in all other areas. The issues with Tessa’s speech would continue to be a concern and this would be a cause to have her re-evaluated at the age of two. It was at that time that Tessa was seen as having an issue that needed attention.
This would result in her gaining entrance into a program named Early Steps. This program was designed to help in the area of speech therapy and it did have a positive result in regards to Tessa’s speaking skills. The following is what Trista shared concerning the early results of the therapy, “Speech therapy did help. She finally started saying mama, she was saying bubba (what she calls her brother). She finally said yah you, her version of love you.” This was encouraging to Trista and the family but they would soon receive a bit of news concerning Tessa that was very disheartening. This took place as Tessa was approaching three years of age. It was at that time that Tessa’s speech therapist diagnosed her with apraxia of speech. This is a failure in the coordination that takes place between the brain and muscles that control a child’s ability to speak. Needles to say, Sean and Trista were devastated by this diagnosis. Trista cried, wondering if her little girl would ever go on to have a conversation with her mom? This was the thought that ran through Trista’s mind at the time. She recalled words that she had spoken to Tessa in one instance while hoping that things would improve, “One thing that sticks out in my head is laying in bed with her one night at about that age and I told her, ‘I know you will start talking one day. You will just be able to get all of your words out and you will never stop talking after that’”.
Things to Overcome
One would hope that this would come true and that Tessa would overcome the issues with her speech. There however, would be much more to come. There is a host of issues that can affect a child along the way. Many parents will face circumstances with their children that will have to be dealt with and there will be things that a child must overcome as they grow. Some will have issues that are greater in complexity. I have said it before but I will repeat it here, a child’s life should be filled with laughter and innocent fun as life’s lessons are learned. It is true though that troubles often come that one would never expect to happen. It was apparent that the Bruner family had a special situation with Tessa. Her speech therapist, whose name is Aleisha, would continue to work with her and she would notice something in Tessa that would increase her level of concern. From what she was seeing, she felt that Tessa was having issues with her fine motor skills. Aleisha, who is a valued friend and Tessa’s speech therapist to this day, recommended that Sean and Trista look into occupational therapy for their daughter. They, of course, followed through but still, they were optimistic. Trista would tell me that, at this point, she never expected anything beyond these issues to be a problem.
It would be in December of 2018 that Sean and Trista had made the decision to sell their existing house in order to purchase one with a little more space. Things would move a more quickly than they had anticipated as their home would sell before buying the next one. Of course, they would need a place to live and that meant moving in with Trista’s parents. This wasn’t a bad thing at all. It gave everyone more bonding time and Ron and Lisa would certainly enjoy having the grandkids with them. In fact, Ron, who the kids referred to as their “Pop”, would take naps with Tessa. This would certainly provide more opportunity for that but it was because of this that more would begin to be revealed about Tessa. Ron had been seeing what was termed as weird behaviors during nap time and this would start to raise further concerns. It was noticed by Pop that Tessa would suddenly sit up and she would start with these movements. His concern was that perhaps, Tessa was having seizures during these events. Trista shared with me what her thoughts were as she heard this from her father, “When he said seizure, I thought no way dad! It can’t be a seizure. I have never seen anything like that from her before.” Even though in disbelief, Trista very wisely decided to get in contact with a pediatric neurologist. The doctor would waste no time in ordering the testing that was required to evaluate Tessa’s situation. Both an MRI and an EEG would be ordered for Tessa. So many different things had taken place with this little girl already and it just seemed that the problems were beginning to mount, one thing on top of the other. This family was on a journey with Tessa, even though they were unaware of exactly what was taking place at this time.
Trista explained that the initial EEG did not show any evidence of seizure activity. With this, the neurologist was hesitant to give Tessa a diagnosis and he did not yet want to put her on medication. The results of the MRI came back after the EEG was performed and with that, the doctor and staff wanted to discuss the results with the family. I will use Trista’s own words here to explain what they had found in the MRI and also, Trista’s reaction, “They said that there were some issues in the front of her brain with white matter and they said it’s something that most likely happened in utero and that her brain did not develop properly. I was sobbing in their office.” Things had seemed so perfect. A man and a woman meet and true love is found. Together, as a family, the experience of having children is enjoyed and the perfect size of a family is formed. A boy and a girl! All of a sudden, over a short period of time, things had changed and there was a big problem going on with their princess. Trista said that the doctor could not give her an answer as to what all of this meant to Tessa’s future and whether or not she would ever be “normal”.
Tessa’s condition, whatever was taking place, would gradually become worse after that. This sweet princess was falling all of the time and she would run into things. Everyone, including the staff at her school, was becoming increasingly concerned about her. Her safety was at risk and the teachers were concerned about her clumsiness. With the news from the school concerning Tessa’s frequent falls, Trista took Tessa back to the neurologist for an emergency appointment. This could not be ignored! It was decided that a 24-hour EEG be performed and a medication would be prescribed. They were hesitant to put Tessa on medication because they had yet to see evidence of seizures, however, they would end up putting her on a low dose of Keppra as a precaution. This, because of the abnormalities that they had observed in Tessa’s brain. All of this was taking place while Sean and Trista were in the process of purchasing a new home. Can you imagine that? Life never stops, although you wish that it would slow down during times like this!
It was just a little over a year ago, on April the 20th, that a major event would take place. The Bruner family had just moved into their new house and was returning from taking the kids on a walk to a lake that was in their neighborhood. Trista had just put Tessa at the table for a snack when something terrible would happen. Tessa started to fall sideways and Trista asked her if she was okay. Tessa then smiled at her mom but then, a large amount of drool started coming from her mouth. The poor thing then fell forward and hit her head on the table before Trista could get to her. Trista yelled for Sean, in fear that Tessas was choking. Right away, they got Tessa out of her chair and started sweeping her mouth for food as they checked her breathing. Trista stated that Sean then laid her on the floor as she was unresponsive. Sean breathed into Tessa’s mouth. She looked up at her daddy and smiled at him but then she started to convulse. One of the most terrifying things that a parent can witness is watching their child have a grand-mal seizure and this is what they were seeing. The entire thing lasted an entire seven minutes. I know, this is one of the most helpless feelings that can be felt by a mom and a dad. This is something that neither Sean or Trista had ever seen before, and you know what? It doesn’t matter whether you are male or female, dad or mom. It truly is a very frightening experience. Sean described what he went through that day and it should tell us all much about the man and father that he is. Here is what he had to say, “The first big seizure was the scariest day of my life. I remember holding her head and just kept talking to her. Her eyes rolling back and jerking, foaming from the mouth. I truly thought my daughter was going to die in my hands. After the paramedics came, Trista and Lisa went to the Hospital. I stayed behind until Ron was able to come watch Colten. Once I got to the Hospital and was in the room, it all hit me at once. I Had a pretty hard cry.” I’m right there with you Sean, if only in spirit!
Feelings of panic are normal during a time like this, however Trista was able to call 911. The operator felt that they were, in fact, witnessing a seizure and she dispatched paramedics to Sean and Trista’s house. The paramedics had arrived as Tessa was coming out of the seizure and they wanted to transport her to the emergency room at the hospital for evaluation. The ER doctors examined Tessa and would end up giving her a diagnosis of generalized epilepsy. They increased the level of Keppra that Tessa would take but that was it. Trista stated that the increased level of medication did not improve the situation as Tessa’s condition only worsened. Tessa was no longer having grand-mal seizures but the Bruners would soon realize, all of Tessa’s falls and her clumsiness could be attributed to seizure activity. Drop seizures or atonic seizures were suspected to be the culprit. What a person will experience while dealing with doctors can be varied at times. Most of the time, doctors are right on top of things and they know just what to do. Other times, the experience can lead to frustration, all the while suffering through the anxiety of dealing with a loved one that needs the very best attention. Tessa’s neurologist would go on to order a 48-hour EEG but that is not what would get the ball rolling in the Bruner’s quest to gain answers. It was during an appointment that the doctor had just mentioned a free genetic panel of tests that was being offered by a company name Invitae. The test was available for finding disorders that are genetically related to epilepsy. To this, Trista said yes, she was interested, and she asked the staff to do the testing.
Searching for Answers
The doctor decided to draw a sample for the test using saliva with the result ending in a failed test after the sample was sent. They needed a new sample and saliva would be used once again. It was during this time that they were giving Tessa juice to drink in order to produce more saliva and this would cause Trista to question their methods. She felt that giving Tessa juice could corrupt the sample, causing it to fail again. They assured her that this would be okay as long as they waited five minutes before taking the sample. The result of the test, once the sample was sent a 2nd time, was that the testing again resulted in failure. Trista never heard back from the doctor’s office but she would receive a call directly from Invitae. They were not having any success in contacting the neurologist office and that is why they contacted Trista. The representative of the company asked her if she would rather have a blood draw done to make things easier. To this, Trista quickly said yes. This experience would result in Trista’s not being too happy with Tessa’s current neurologist. She stated that they had never been readily available and they had no real answers as to why Tessa was getting worse.
Trista would go on a search for a new doctor as a result and she would find a neurologist that was in a smaller practice. The hope was that Tessa would get greater attention and that the answers would be found. This doctor would examine Tessa and would wind up ordering testing only for Angelman Syndrome and also for Rett Syndrome. In the meantime, Invitae had been running tests on an entire panel of things that are related to epilepsy. So out there in two different laboratories were two different sets of tests that were being performed and they would make their way back to the neurologists office. Trista had requested that Invitae send their results to the new neurologist office. All of this would lead up to what Trista would refer to as “the day our lives changed forever”. This happened on July the 17th of 2019, a day in which Tessa had a neurology appointment. I will let Trista tell you how the appointment went in her own words, “We knew that both genetic tests were back in, finally. Invitae had sent their results to the new doctor as well and they had informed us of that. We went in scared but hopeful to have answers, finally. We sat down with the doctor and he first went over his test results which cleared Tessa of Angelman Syndrome and Rett Syndrome. He was going to end the appointment after sharing that news. But then I said to him, I was notified you also had the results back from Invitae. He looked through his folder and sure enough they were there. He started reviewing them while we sat there waiting. We had no copy of our own to review at this point. He told us that the test had shown several different things but that genetic testing is so crazy these days every little issue shows. But in his mind these were all inconclusive results and nothing of concern. He said Tessa just has epilepsy and once we get a handle on it, she will be much better. We just need to figure out the right meds for her.”
I find this confusing. What was the doctor thinking by not considering the findings of the panel of tests that were performed by Invitae? What was his reasoning? Whatever the case may be, Sean and Trista left his office with a copy of the test findings in their hands. Trista said that she left the office with a sense of relief, knowing that her baby girl was going to be okay. Once they got out to the car, Sean started looking at the reports and much to his dismay, he saw something that was puzzling and of great concern. Trista begins by quoting her husband as he looked over the findings from Invitae, “‘I’m confused by this first part. I feel sick reading this. It says Batten Disease, CLN2, positive. Why does it say positive when the doctor just said inconclusive?’ I told Sean to calm down and it’s probably fine. Why would the doctor tell us not to be concerned if there was a problem? But my whole drive home I was dwelling on it and feeling just sick over it. When I got home I ended up calling Invitae myself.” As Trista did so, they transferred her to a genetic counselor and that individual was also confused as to why the doctor had told them what he did. The counselor told Trista that their little girl did, in fact, test positive. Tessa had two genetic mutations for CLN2. The results of the test would include a statement that says that children with CLN2 do not normally live beyond the age of 12 years old. What is it like to be a mom and to be given this kind of news? Trista said that she started sobbing upon reading this. She could not believe that this was happening. It was all a very surreal experience.
Trista explains, “To go from this feeling of relief after the doctor straight down to devastation is something I can’t even describe in words. I immediately called Sean and I remember just saying to him ‘Our little girl is going to die’”. For Sean’s part, he had left work for that appointment and had gone back to finish his obligations for the day. In the back of his mind was what had transpired previous to his return. Here is how he put things to me, “We had left the Neurologist feeling better, as we thought we just had Epilepsy to battle. Except for that paragraph about CLN2. I couldn’t stop thinking about it. I went back to work as I had left to meet up for the appointment. I was in a home owners house (I work as a warranty rep for David Weekley Homes) when Trista called me. I quickly excused myself and ran to my truck and balled my eyes out. Just wanted to get home and hold everyone in my arms.” As men, we should instinctively choose to hold the women that are placed in our lives in a position of honor. Tessa was Sean’s little princess and he had just received the worst possible news that a father could. Trista’s next action was to break the news to her mom and dad. This took everyone by surprise and Trista explains with this, “I called my parents next and told them. We were all just in absolute shock. We had never heard of Batten disease. Not once did this show up in my google searches over the months when I tried to find out what Tessa might be suffering with.” The shock that Ron and Lisa felt was equal to that felt by Sean and Trista. As a family, they were incredibly close. Sean’s family, both local and out of state would also be very concerned upon hearing the news.
Those closest in proximity to Sean and Tessa would be by their side as their journey continued. There were none closer than Ron and Lisa and they would be there constantly to provide support. Here is some of what Lisa had to say concerning the time in which they first learn of Tessa’s diagnosis, “Our world as we knew it changed in an instant … We had never heard of Batten disease. Then we heard the word no one ever wants to hear, FATAL. I thought I would never be able to breath again. I thought, where am I going to get the strength to go on.” That first night at home was understandably, very difficult. It was just too much to digest. This little person that was so perfect in appearance had a disease that was fatal. Things that were first of concern, had now become something that is tragic. Trista described that first night in this way. “That night I just laid in bed wide awake crying. Tessa came to our room in the middle of the night like she always did and I just laid next to her trying to imagine what our future will hold.”
Renewal Of Strength
The myriad of feelings that one goes through when given a diagnosis such as Batten disease does not go away quickly. There is heartbreak that is intense. A parent starts to grieve over the child that they still have with them. Most often though, a process takes place in which there is a renewal of strength and determination. Hope for future clinical trials is something to cling to. These days, a parent that is given the diagnosis of the CLN2 variant of Batten disease will receive the news concerning a treatment that is available. Enzyme Replacement Therapy is available in regions across America, as well as in other countries. The Bruners would find out that they had hope for a treatment and this news would come very quickly. This happened as Trista researched the disease that she had just learned of. That would be very significant to Tessa’s battle with Batten. Trista would learn that this treatment was available through a company named Biomarin and without waiting, she filled out a form that was available to gain entrance into the program. Time is of the essence for getting a child started with this program and it would be the very next day that Trista would receive a call from Biomarin’s Nurse Consultant. This person made it possible for little Tessa to gain quick access to the treatment. Very soon, the surgery to implant a port into Tessa head for receiving the treatment would be set up. A doctor, who we will just call Emily, from Nationwide Children’s Hospital in Columbus, Ohio would be instrumental in having the surgery set up quickly. Within the matter of two weeks, they would be on their way to having the surgery done.
This meant that Trista, Lisa, and little Tessa would have to leave the others behind as they left Florida so that the surgery and initial treatments could take place in Ohio. This was difficult for Sean and Colten, as well as Ron, to be separated from the ones that they love. Especially under these circumstances. There were some tear filled nights for everyone. That is to say the least. All of this had to be explained to young Colten. He had been present while all of this had taken place with his little sister and now, they were absent. Sean and Trista tried to explain the situation to Colten and he would be a little champion about things, even though this was so hard for everyone. There were so many unknowns, such as when they would return. Everyone has to put on a brave face and do what was in the best interest of Tessa. She is so special and was so worth whatever cost might be incurred. Both financial and otherwise. Lisa’s sister lived in Northern Kentucky, just two hours away from Columbus in Ohio. Lisa and Trista decided that it would be good to stay with family as all of this was taking place, so Kentucky would be their initial destination. It would be from there that they would make their way to Nationwide Children’s in Columbus for the surgery. Successful surgery to implant the port would take place and it couldn’t have come soon enough. Trista explains, “On August 6th 2019 Tessa had brain surgery to place the port for her infusions. It went well and she recovered quickly. But throughout this time her seizures had picked up significantly. There were days where she wouldn’t even try to walk because she knew she’d fall down again from seizures.” What could be more challenging to have happen as a parent? Sean wouldn’t have missed the surgery for anything and had flown up to be present at that time.
Tessa would have her first treatment performed on August the 21st of 2019 and the second one would take place on September the 4th. The hard work done by the representative from Biomarin would prove to be invaluable as Tessa’s next treatment would take place in their home state of Florida. She had made it possible for the staff at a facility in Orlando to get trained and proficient with administering the treatment. The staff at Biomarin is wonderful and caring, to say the least. This is not even to mention the professionals that work hands on with these children. All three of the ladies were able to return home within six weeks of leaving. What a whirlwind of events this all had to be. Sean explained his gratitude towards everyone at Biomarin and the experience of missing his girls with this, “Everyone involved at BioMarin were amazing. We went from zero hope to learning of an actual treatment for CLN2. While we knew it wasn't a cure, there was something. Before we knew it, the girls were all heading to Columbus while Colten and I stayed behind. It was pretty hard but thanks to technology we were constantly talking and Facetiming. Colten and I hit our groove for sure. He surprised me how well he handled everything. We definitely had many cries together when we were sad and missed the girls.” Both Sean and Trista do not know what they would do without the support of Ron and Lisa. Sean and Trista have continued to work while all of this has been taking place and that would otherwise not be possible without Lisa’s help.
At this time, Tessa has now received over twenty infusions. Her seizures have stabilized although she is still having one to two per week. Together, Trista, Lisa, and Tessa make the trek to Orlando every two weeks for the infusions. It takes them about an hour and a half one way to get there. They have a routine which includes bringing Tessa’s favorite pillow and blanket, plus, they bring their own food from home. Tessa loves playing on her tablet during her travels to Orlando. The family has adjusted Tessa’s medications in order to calm her while they access her port. Their little warrior seems to be very shaky after each infusion and she runs a slight fever afterwards but she always bounces back. Like the others that battle Batten, little Tessa is the model of a resilient warrior. Batten has it’s predictive stages of progression but every child is different in some way. For Tessa’s family, the rapid loss of her eyesight has been a big source of heartache. Who couldn’t understand this? What would it be like to be a child and to have this happen to you? Signs of her vision loss first started to show up at two years of age. This as she would hold books very close. They would fit Tessa with glasses but that seemed to just make things worse. Poor Tessa would run into things and it has been so hard to watch it all happen while having no control over the situation. Tessa has been a warrior through all of it! There was testing performed in March to see how bad her eyesight had become. The doctor would report that Tessa cannot see anything in her direct line of vision. She can only see things peripherally. Everything is blurry to her.
Trista describes her reaction to being told that her princess is now legally blind, “I knew her vision had declined, I could see it myself, but hearing that my 4 year old is legally blind was another devastating blow. I remember as her vision got worse she would rub her eyes constantly and tell me ‘mommy eye boo boo’. I would just sit there and cry. It was harder for me to know that she noticed the change. And so hard to know I could not save her from all of this. If I could give her my eyes I would, without hesitation.” And still, Tessa has remained cheerful and the love of everyone that is around her. Her presence lights up any room in which she is present. Can you see how that would be the case? Lisa describes her granddaughter in a very special way, “Tessa is a very loving child. She loves to give hugs and kisses and she tells us all the time I love you. It doesn't come out quite like that but we know what she is saying. She absolutely adores her Pop. Since she has lost her vision we do what we call ‘roll call’ when you walk in the room. She always wants to know who is there. Her smile is like sunshine and her laugh will make you laugh. Tessa is a trooper even though she has lost her vision.” You get the idea, Tessa is a very special warrior princess! She loves to play outside. Swimming and going down the slide are her favorite things to do. When it comes to kids that battle Batten disease ... Is it us, or is it them? I think that Tessa’s life is a testament to the fact that it is them. These kids can steal your heart, never to give it back. It happened to me!
A Special Kind of Love
Sean and Trista both have a special kind of love for Tessa. Always in the back of their minds are thoughts of what the future holds for their princess. She has her challenges with the infusions and, of course, there is the vision loss. All in all, Tessa continues to thrive on ERT and the hope is that Gene Replacement will soon be available in the form of a clinical trial. Would that not be wonderful if the hope for a cure would be realized very soon? There is no way that Tessa could be replaced in this family, even so, something would take place with Trista that would soon change the dynamic of her little family. Her and Sean talked about it over the phone in the time that Trista was waiting in Kentucky for Tessa’s port placement surgery. Trista explains, “I just had this overwhelming need to try for another baby. Sean was not agreeable in the beginning.” After months of talking things over and also talking with members of other Batten families, they decided that they would give it a try. Here is what Sean said about his part in the decision making process, “I was definitely apprehensive at first when Trista said she wanted to have another little one. I did feel guilty and felt like we would be replacing her (Tessa). I am extremely thankful that Trista let me go through my own process with dealing.” I think that any father that loves his daughter as much as Sean loves Tessa would have the same apprehension about such a thing. I am happy to tell everyone who does not already know, Trista is expecting a new baby girl. A sister for Tessa! She is due to deliver the new baby bundle on the 18th of August.
This little one has been cleared of having Batten disease and everyone is very excited. Trista says as much with this, “I can’t wait to see Tessa become a big sister. I know she doesn’t quite understand it when I tell her a new baby is coming. But once the baby is here, Tessa will give her endless hugs and kisses.” That’s the way Tessa rolls. Trista says that she has the biggest heart and gives so much love to those that are close to her. She counts every day that she has with her Tessa to be a true blessing. To watch a four year old experience the things that Tessa has been through is heart-wrenching. She is an adorable little girl and knowing what she has endured just melts you inside. Her smile, I mean it is still there in abundance and she finds the joy in living regardless of what she has been through. These rare kids are the most special, and they are the most amazing. It is them! Both Sean and Trista will tell you that life as they know it would not be possible without Trista’s parents in their life. This is a family that functions just as one would hope that it would. Yes, they struggle a bit with the realization of what they are dealing with but they are dealing with life as it is, together. There is no doubt that going through this rare set of circumstances has made them stronger in their bond with one another. There is so much to deal with as a Batten family and that is why I hold all who battle Batten in a very high regard. My feelings run deep. These families are special and especially these kids.
Those that love one of these children would do anything in their power to make their young life as wonderful as it can be. Here is what Lisa says about that fact, “I never knew I was going to have to know more medical terms then some doctors know. I never knew how hard I can fight for someone when that someone doesn't have a voice to fight for themselves. So, we are family and we take care of each other no matter what. Tessa's Journey is my journey. As long as I am breathing I will go to her infusion, her therapies and her appointments. I will travel wherever I have to travel if it is best for Tessa. Tessa is sunshine and her smile will make you smile. She gives the best hugs and when she says I love you it is music to my ears.” You see there truly is something special about kids that battle a rare disease like Batten. Have I convinced my readers of that? I’m trying. When it comes to answering the question, it will be one that I continue to ponder but it is a fact that it is them and they do produce feelings in us that are like none other. Tessa’s life will, no doubt, affect the lives of her family like no one else’s can. She has already taught her family things that they may have never learned otherwise and they have loved at a depth that may have otherwise never been reached. Are you having difficulty in your own life? Look at how Tessa has handled adversity. I am so glad that this family has each other and I am grateful for their willingness to tell their story to others. It was nice to take part in doing so. Have I said it enough? Another special family for sure. Thanks for reading Tessa’s story!
Blogger and Advocate
“Eventually I decided to read about the disease. I had to know. I didn’t want to give up. I had to live for Grace. There was no escape, so I started searching the internet. And, I didn’t just find out about the disease, symptoms etc., but also that there is a treatment, there is hope.”
Grace’s Mum and Advocate
I was having problems getting started with this story but then, it came to me. The pictures posted by the families that battle CLN2 Batten while living in the United Kingdom tell us much. These are especially stressful times. As if times like these didn’t have enough stress of their own. It doesn’t matter which of the 14 variants of Batten disease that we are talking about. Each one comes with news that brings great shock and dismay as the diagnosis is received. Watching as a child progresses into the disease, while helping that child to fight, brings stresses that most of us know nothing about. The circumstances that come with battling Batten takes ordinary people and turns them into those who are able to cope with some of the extremes that life can send our way. These types of circumstances come with the disease in every case but currently, there is the added stress of being in the middle of battling a pandemic.
Having to quarantine your family is something that is new to most of us. Isolating yourself and intentionally keeping your family at a distance to others is strange. It just seems so lonely and it can leave us with an eerie type of feeling. At times, it can almost feel like playing a part in a science fiction movie. For a care provider to a Batten warrior in the midst of cold flu season, this type of thing can seem like commonplace. Protecting a child or teenager that is medically fragile is of the utmost importance and this is a practice that takes place all the time in the Batten community. Those of us who are protecting our family members may have a glimpse of what these parents experience but for us, this will hopefully only take place for a time. The goal right now is to remain healthy and to stay away from hospitals. It is desirable to stay away from large population centers and to be removed from travel using public transportation. What if you have no other choice but to put yourself at risk for the benefit of your child’s health? This is what many of the families in the UK, and other places, are going through. Most any parent would do what is necessary for their child’s health and well being. Doing what is necessary sometimes involves taking risks. Enzyme Replacement is something families that battle CLN2 Batten disease are very thankful for. This life changing treatment greatly improves the quality of a child’s life as they battle Batten. The time commitment that a Batten parent renders for their child to receive ERT is noteworthy but they wouldn’t have it any other way. The increase in the quality of life for their child is so worth it.
Let’s face it though, any medical facility is a place that we would rather not be right now with this pandemic taking its toll on society. Those who are in need of any form of treatment are most always thankful for the doctors and medical workers that provide the treatment. It’s especially true at this time that these people are our heroes. They are placing themselves at risk in order to help those in need. Whether in a time like this or not, a hospital that specializes in the care of children is of great importance. In the UK, the world famous Great Ormond Street Hospital for children is a special place. It started from very humble beginnings and has grown into a leader in the treatment of conditions that affect children. There are many families in the UK that travel to GOSH so that their child (sometimes children) can receive Enzyme Replacement. Many of those do so via public transportation. After all, we are talking about a large city here. I know that the staff at GOSH, and facilities around the globe, are taking precautions. They truly are heroes by most anyone’s standards. So whether it be by public transportation or by another means, there are risks involved with traveling outside the home at this time.
Who wouldn’t, as a parent, take these risks? Parents of children that battle CLN2 Batten take this trip every two weeks. Some travel great distances in order to bring their child for treatment. It doesn’t matter whether we are talking about a family that battles CLN2 or one of the other variants of Batten disease. All of these families exhibit a type of love towards their children which, to me, is like none other. They all live with the news that they once received. That is that their child has a disease which is terminal in nature. There is no treatment and no cure for most of the variants, although CLN2 families have had Enzyme Replacement Therapy available to them for a while now (ERT is not a cure).
Becoming a parent for the first time can be one of the most fulfilling experiences in a person’s lifetime. So many memories are formed from the experience of having a child for the first time. Whether we are talking about a young couple or someone that experiences childbirth while being single, there is nothing like bringing a child into this world. All of the new responsibility is thought of as you hold that child for the first time. You are met with the realization that you are no longer responsible for only yourself. You have this new life that is yours to care for and the bond is instantaneous. You sit there in wonder as you look at all of those fingers and toes. You ask the question, who does this baby favor in appearance. From that initial experience and through toddlerhood, having this little presence in your life brings the greatest type of joy. Life moves on and circumstances change.The joy that was experienced over time gives way to concern as trouble begins to develop. Great concern gives way to utter despair. To receive a diagnosis for a disease that has no cure leaves a parent without hope. That experience is surreal and it is not one that many will have happen. The end result is that you do everything in your power to help that child and those actions are the reasons that I write. That, and the details of a type of love that is undying.
This next story is about another young family living in the UK but this one is perhaps a little different in some ways. Doing their story brought a couple of things to mind. One is how much I have grown to love many of these little warriors from across the Atlantic. This would, of course, include their families. I don’t know that I have the resources that are needed in order to keep a bucket list going. I do know that I would love to travel more if I could. One of the things that would be so desirable for me is to be able to visit the families in the United Kingdom that I have had the opportunity to write about. There are other families there that I would like to meet as well. My reception by many of the Batten families there in the UK has been a very warm one and believe me, the feelings go both ways. In addition, who wouldn’t want to see many of the historic places that exist across the pond? Another place that I would like to visit, if possible, is the country of Poland. You may ask, why Poland? Well you see, hidden behind my hispanic sounding last name is the fact that I am half Polish in descent. I am very proud of that fact because of the love that I had for my grandparents on my mother’s side of the family. They were very honorable people and I have many fond memories of spending time with them. My grandfather, in particular, was a self-made man who was greatly successful in his endeavors. My grandparents were proud to be Polish and so am I. Poland looks to be a really beautiful country and that is another reason why it is a place that would be included in my travels. Why would I include all of this for a Batten family story? Please bear with me for just a moment.
Each Batten family story moves me in a special way and I am sure that this next story will be no exception. It begins with a young lady named Izabela, as she was growing up in Poland. The story begins in a town named Bydgoszcz to be exact. Izabela Swierczynska grew up there and had dreams and aspirations for her future. Bydgoszcz is a big city in the Northern part of Poland. It is a beautiful place, full of old world charm and modern day activity. There is much to do there in the way of leisure and cultural activities. Included in the opportunities available in this large city are those that involve higher education, both in science and in medicine. This would work well for Izabela as she initially had aspirations for being a medical doctor. One thing was for certain, she had a sense of adventure and part of that was to one day fulfill a dream to move to the United Kingdom. I better not get ahead of myself though as I tell the story. It was certain that Izabela was goal orientated and that she was willing to put in the hard work required to fulfill those goals. She would complete all the requirements of what was necessary to move through her primary and secondary education. This would be in route to a higher education and a better future, for the purpose of fulfilling her dreams. In many ways, Izabela’s upbringing was typical and her time growing up included playing with pets that were included in her family. Izabela loved animals from a very early age. This would stay with her and Izabela’s love for animals would eventually influence her career decisions.
Izabela’s desire for her future was to have a career in medicine and that would require attending medical school. She certainly had the drive and the aptitude for this and it would just be a matter of time before that would take place. In the course of time, and because of her love for animals, Izabela would change her career goals. That meant that she would work towards a career in veterinary medicine instead of practicing medicine on humans. Izabela would apply for veterinarian school at the University of Warmia and Mazury, located in Olsztyn, Poland. Olsztyn is another beautiful place on the map and that would make up the setting in which Izabela would attend school. Just as it is with attending medical school for humans, the training to be an animal doctor can be both intense and rigorous. Completing the curriculum to practice any form of medicine is no small task. Think of all of the areas of medicine that exist for physicians practicing medicine on humans. That is why we have specialists. Then think of all of the species that a veterinarian has to learn about while in school. In short, there is much to learn and completing the training is not easy. Izabela would be up for the task and she would complete the training. Her dreams were becoming a reality.
The achievement of one goal would soon lead to the realization of another. As I’ve mentioned previously, it was Izabela’s desire to one day move to the United Kingdom and that would include even more. From early in life, she had dreamed of marrying an englishman. In explaining this, she said that she didn’t know why that had been the case but she did know that it was true. Elizabela was on an adventure and she would seek employment in the UK. As would be expected, that would also soon become a reality. She would leave Poland in 2007 in hopes of making a better life for herself and also for future employment. She picked up and moved, making England, and eventually Chesterfield her home. Just as Izabela expected, she loved it there and it would very quickly become the place that she would want to spend her life. One of the places that a veterinarian might find employment at is an abattoir. That is another word for a slaughterhouse. We all have to eat, do we not? It would make sense that you would want these animals to be healthy. In fact, Izabela’s studies in school included classes that were geared towards caring for these types of animals and the teaching would include government regulations surrounding these facilities. Not only did she find a job at this place but she would also meet someone that would fulfill another part of her desires in life. This would take place in 2011.
David was a person that worked at the abattoir and he and Izabela would begin to gain an interest in one another. What I am trying to say is that they would fall in love and a growing relationship would begin! David was a fun loving and adventurous type of person and that is exactly the type of man that Izabela was looking for. All of Izabela’s dreams were coming true as she achieved the things that she set out to do in life. Not only would her relationship with David grow but so would her love for her new surroundings. She loved living in the UK, just as she thought that she would. Her work as a veterinarian was challenging but interesting and rewarding. She absolutely loved it and continues to up to this day. The long hours at work would be rewarded with time spent together with David. There are always many fun things for a young couple to do while being out and about together and they would do just that. As their relationship continued to grow, marriage began to become a consideration but it was not yet time. They also had a desire to have a child together and that would begin to be considered after a few years together.
Along the way and while in practice, Izabela would discover that she loved working as a veterinarian surgeon. That would be the area of medicine that she would settle into and it is the area that she continues in at this time. Her love for the type of work that she does has never left her nor has her love for David. It would be in the later months of 2014 that Izabela received some very exciting news. She and David were going to be parents. Izabela was going to be a first time mum and David was going to be a father. The bond between David and Izabela had been deepened by the time that they had spent together. This would be further strengthened by sharing in the experience of maternity. Plans for their future now included parenting a child and they waited in expectation as the weeks and months passed by. As the month of June in 2015 approached, so did the event that this young couple had waited for. It was time for this baby to make its appearance. Izabela’s time with carrying her baby would pass without any serious complications but the delivery would be another matter altogether. She would be in labor for four days and it would be the day before the baby’s delivery that Izabela’s midwife assured her that everything was fine. That actually was not the case and Izabela knew that.
A Princess is Born
She insisted that she be brought to the hospital where doctors could assist her and that is what would take place. This would turn out to be the right decision as the staff at the hospital determined that the baby was in the breech position. This means bottom-first (or feet-first). Many babies will be in this position during the pregnancy but they will turn themselves before making an exit from their mum’s tummy. You can only imagine what may take place if the baby does not. It was a good thing that Izabela asked to go to the hospital as her baby girl would be delivered by cesarean section. Yes, they had a baby girl and they would name her Grace. She was born so perfect and beautiful in appearance and that would take place on the 21st of June in 2015. Both David and Izabela were so excited by Grace’s appearance. Their new baby girl had all of her fingers and toes and she was covered in brand new baby skin. Grace’s appearance had been a traumatic one but she was here and she was so beautiful. David would tell Izabela upon laying eyes on his newborn daughter that she looked just like her mum. Izabela had a mini-me and David now had two beautiful girls in his life. Grace came to David during Father’s Day and he considered this little person to be the greatest gift that he had ever received. Life was at this point, so good for this little family.
There are often health concerns that children have to overcome as they develop. Little Grace was perfectly beautiful but there were a couple of things that she had to overcome soon after being born. It would soon be discovered that she suffered from hip dysplasia and that would be treated by her having to wear a pavlik harness. Hip dysplasia takes place when the hip joint doesn’t form properly. The ball is loose in the socket and this allows the hip to be easily dislocated. The harness keeps everything together in the proper location while the hip continues to develop. Grace would have to wear the harness from 10 weeks of age to 6 months. This did not keep her from displaying plenty of smiles but there was something that caused both her and her mum great discomfort. That being that little Grace was tongue tied. Grace would have to have her tongue cut twice. The first time her tongue was cut was also at 10 weeks. The first cut was very traumatic because Grace would not quit bleeding. She would have her tongue cut again at the age of 6 months and this time, it was barely noticed. All throughout this time, Izabela had been breast feeding her baby and the issue with Grace’s tongue had made the feedings painful for Izabela. Even with this, Izabela said that she wouldn’t have changed anything. The time together during feedings only served to increase the bond between mum and daughter. This is a beautiful thing!
One of the most wonderful things, and something which provides the sweetest memories, is the experience of having a little person in your life. The innocent laughter and all the cute little actions that are observed as a child figures things out. Imagine a father having to clear the smile off of his face before correcting a child who was caught doing something naughty and adventurous. I have one particular event in mind as I think of this and it took place at the family refrigerator. It didn’t happen at my house but it is a precious memory, pretty comical all the same. More memories are formed watching a child develop physically as they reach each milestone. A roll over turns into a crawl and the crawl, in combination with standing up, brings the big event. The child takes flight and begins to walk. Izabela would tell me that little Grace would begin to walk at age 11 months. She went on to describe Grace’s level of energy and her disposition as a baby with this, “And actually, she never walked. She would run all the time. She was a very busy baby. Happy and smiley.” This is evident in looking at the pictures of Grace and why wouldn’t she be happy? She had a dad and a mum that loved her and they were providing her every need. Much of their world was now centered around this little princess. David and Izabella would do everything that they could to aid in Grace’s development. Grace started to talk a little bit later than her peers but that was nothing to be alarmed about. Afterall, she was developing well in all other areas. Izabela said that Grace could soon count to ten. She also learned her colors and animals very quickly. That’s a good thing since her mummy took care of animals for a living!
The first couple of years were as normal as one might have expected for a busy young family. There was plenty of fun to be had and lots of good times for this family of three. Every couple has challenges along the way as they raise their children. Different types of events can be encountered at various ages and it seems that the challenges often begin to develop as a child approaches the age of two years. We call this time in a child’s life the terrible twos, of course. It would be at two and a half years of age that little Grace started having nightmares. Izabela explained that they would last anywhere from ten minutes to sometimes two hours. This was very traumatic for little Grace. This poor little person didn’t know what was happening and the whole thing was so frightening for her. It was also traumatic for Izabela, who would try to calm her tiny daughter. Grace would be hitting and screaming during these events and even bit Izabela a few times. Izabela thought that these were simply night terrors and she stayed patient, not yet investigating to find a cause. Who could possibly know that there was more going on with little Grace at this time? Very quickly, Grace’s behavior changed as well. Izabela stated that Grace’s behavior became horrible, seemingly overnight. She started screaming and shouting. It lasted an entire day on one occasion. Was the abrupt change in this little girl just a by-product of the terrible twos or was something serious taking place?
These events left David and Izabela confused as to what to do. One neighbor asked Izabela if her daughter was autistic and that caused her to start questioning things. It did seem that these behaviors were beyond what one would expect to be normal. It was then, when Grace was three and a half years of age, that the night terrors stopped. David and Izabela could breathe again, thinking that they had come through something that was just a phase in Grace’s development. Is that, however, all that was taking place with her? David and Izabela were relieved but that relief would be short-lived. Not even a month later, the next challenge, or rather symptom, would occur. All of a sudden, little Grace would start falling to the ground and her body would jerk uncontrollably. How alarming this would be as it happened before your eyes. The feeling of helplessness! From one occurence to the next, something very serious was taking place with their little girl. Grace was their princess and the center of their world. All of this was becoming very frightening to David and Izabela. Grace would also start to become clumsy and her speech started to slur. Was this a result of the falls that she was taking or were these symptoms of a condition that was yet unknown? At first, these things would take place only on occasion. As time went on, the regularity of the events increased. All of this was of great concern and like most any parent would, Izabela reached out for help.
Help for Grace
She started out by consulting with a general practitioner and the result would not be to her satisfaction. This particular doctor just stated that it is normal for a child Grace’s age to struggle with speech. Izabela said that the doctor completely ignored the fact that Grace was falling to the ground frequently with violent jerking taking place. How could this possibly be? Was this doctor not aware that she was speaking with another trained observer and a medical professional? Izabela moved on. It would be a week later that she and David met with another general practitioner. This doctor examined Grace and also tried to get in contact with a pediatrician. She was more helpful than the first doctor but she also asked if Grace’s behavior might be associated with a tantrum. Izabela stated that this doctor told her to record the events as they happened. This made her feel as if the doctor was questioning her honesty. Izabela started to record the events as they happened and then went to an appointment with yet another GP. By this time, both hers and David’s patience with doctors was growing thin. At this appointment, David insisted that they be referred to the department that handles epilepsy. He refused to leave until this was accomplished and as a result, the referral was made.
Finally, there was a bit of a breakthrough. The only problem was that the wait for that appointment was six weeks. Life doesn’t stand still when difficulties come along. The world continues to move around us and other responsibilities have to be dealt with. Izabela would continue to work during all of this and it had to be difficult to leave the house each day, knowing that Grace was struggling with something that her parents did not yet understand. Fortunately, Grace was being left in David’s capable hands each day. It had been earlier in their relationship, after Izabela’s maternity leave, that they decided that it was best to have David stay home to be with Grace. He became a stay at home dad. This was a bit of a role reversal but it worked well for this family because of Izabela’s training. This time in the life of this family was not only difficult for Izabela but for David as well. Grace was his little princess and he was there at home with her for every event that would take place. The answer as to what they were dealing with had to be found out.
It was on a Sunday in late June of 2019 that things would take a drastic turn. Grace’s situation appeared to be getting much worse and Izabela was understandably, very upset. She insisted that Grace be brought to the emergency room and so, she and David would load Grace into the car. They went to the hospital and once there, Grace was triaged and admitted to the pediatric ward. It had finally become obvious to others that there was something drastically wrong with little Grace. Izabela said that finally, someone believed her and David. The pediatrician may have had something in mind during a thorough examination but he would not say what that was. Instead, he only said that he would refer Grace for an MRI. Again, there would just be more waiting as David and Izabela were sent home with their daughter. Izabela said that it would be two days later that the phone would ring. The doctor was on the line and he said that he needed Izabela to bring Grace to the hospital that evening. This, in preparation for an MRI the following morning. So it was on the 26th of June that Grace would receive the MRI. Seeing her daughter undergo the test was difficult in itself and Izabela said as much with this, “I thought it was the worst experience, seeing my little girl going under general anaesthetic. But, the worst was still to come.” The doctor said the images did not reveal the presence of fluid or a tumor. While that was a relief to a certain extent, Izabela had a feeling that something much worse was taking place.
There would be more testing that would be performed and blood would be drawn for these tests. At the time that Grace was examined at the pediatric ward, Izabela felt that the doctor had something in mind. This, even though he did not say what that was. One of the tests that blood would be drawn for following the MRI was used to check for the proper level of the TPP1 enzyme in Grace. This doctor had apparently known that the possibility of Grace having Batten disease was present at the time he had initially examined her. The deficiency of the TPP1 enzyme exists when children have the CLN2 variant of Batten disease. As it turned out, beautiful little Grace was deficient in TPP1. This was allowing an abnormal build-up of proteins and lipids in the cells of Grace’s brain. Izabela instinctively felt that there was something very serious taking place with her daughter and that was in fact, the case. Just like the vast majority of the rest of us, David and Izabela had never heard of Batten disease. It was on July the 4th of 2019 that they were informed of Grace’s diagnosis. It took only a short time to receive the grim news after the initial trip to the emergency room. The young couple was told that there is no cure and no form of treatment and they were informed of the course that the disease would take. Izabela’s suspicions were correct, much to her dismay.
As was previously mentioned, there are 14 different known variants of Batten disease. Each one is caused by a different gene that is defective. In example, there is a gene that was named CLN1, after being identified, that is responsible for one variant. CLN2, CLN3, and CLN7 are other examples. What makes Batten disease so rare is that each of the child’s parents has to be a carrier of the same defective gene that is responsible for that variant. The disease is rare when compared to the total number of children born into the world but the number of children that the disease affects cannot be ignored or underestimated. The narrative of many stories are similar to David and Izabela’s. The challenges that they were facing with Princess Grace was due to CLN2 Batten disease. The night terrors, the behavioral issues, and certainly the falls to the floor were all due to a battle with Batten. They were given no hope and were simply told that their little girl would not live into her teens. They were told that the outcome of Grace’s life would be horrible and that they should go home and read about the disease. What is it like to be a parent at times like this? To look into your child’s eyes, knowing what the outcome will be. In shock and in disbelief, you wonder if something like this could be possible. How can it be that there is no treatment, no cure? Izabela said that their world had collapsed and who wouldn’t understand that to be the case?
From Helplessness to Resolve
Izabela had felt that there was something terribly wrong taking place before the diagnosis had been confirmed and she had not been incorrect. Nothing, however, could have prepared her and David for what they had been told concerning little Grace.The news left them without hope and with an inability to cope with the situation. Over a three week period, the couple was in a state of hopelessness. They could not sleep and crying constantly, they sat with eyes filled with tears. Then, things began to change. Whereas, initially, Izabela was unable to read about Batten disease, she eventually pulled herself together in order to gather the information that was available. With a bit of resolve and renewed strength, she began to research CLN2 Batten. It was at that point that Izabela had determined that she would live for Grace. She couldn’t give up and her ability to help had to be based in knowledge. Her perspective would change greatly once she started to do her research. Not only did she read about the symptoms of CLN2 but she would also also learn about a treatment that was available.
Along with the shock comes a feeling of loneliness. Especially if the medical staff leaves the parents alone and feeling helpless. Being left alone to deal with the feelings is the most difficult thing that can be imagined. It is always the case that these families find out that they are not alone. At some point and usually very soon, the parents discover that they are part of a community that exists world-wide. They are nowhere near being alone, even if separated by distance. Izabela would find and get in touch with the Batten Disease Family Association (BDFA). She would also make contact with other families that are going through, or have been through, the same thing. They were not alone. Not at all! They had found the support that had been available to all of the other families and they now had help. The treatment that Izabela had learned about was Enzyme Replacement Therapy (ERT). A solution that takes the place of the Enzyme that is deficient in Grace’s little body had been developed by researchers. The treatment had not yet been approved for funding by the National Health Service (NHS) in the United Kingdom. There were however, children that had started to receive the treatment. This was due to a clinical trial that had been started by the chemical’s developer, a company named BioMarin. Some of the children had been selected for the trial and others had been brought in on a compassionate use basis. There were however, children that were being denied because of the fact that funding had not yet been approved. Izabela joined the fight to have the funding approved. Everything that Izabela and David did, they did for Grace and all the others that needed this therapy.
The wait was a difficult one. Knowing that CLN2 was taking it’s natural course while the fight for funding took place motivated this family, along with all the others. Here is some of what Izabela had to say in her own words, “By the time the treatment got approved and Grace had her first assessments and surgery, she lost her ability to walk. Her speech became really difficult to understand most of the time. She became withdrawn and distant. She wasn’t herself anymore. It was hard to accept. And, hard to believe a fast disease was progressing.” Common sense and human decency would eventually prevail. The Funding of the treatment would be approved by the NHS. David and Izabela had hope as their child would now receive Enzyme Replacement Therapy. Like many of the children receiving the treatment, little Grace would have an Ommaya reservoir implanted in her head for the purpose of delivering the solution. This would take place on the 30th of October in 2019. Her first infusion was on November the 14th. It would be 11 infusions later that Grace would start to walk again. How exciting! Princess Grace, like her old self, would want to run but she would tire easily. Still, her parents were grateful for the positive changes that they were seeing in their daughter. Grace is a little wobbly when she walks and her speech is not what it was. Even if her words are perfect, this darling little girl talks all of the time. She slurs her words a lot and speaks only 2-3 word sentences but hearing her talk is a very wonderful thing. Grace is a happy little girl and she is engaged with others. She is such a pretty little thing. Is she not? Her smile is able to melt your heart instantly. These kids and their resilient ways is something that stands out for all to see. All they need is a little help and lots of love. A love that is undying. Grace is at this time, going to mainstream school with all of her little friends and that is wonderful to know.
She receives her Brineura treatments at the Great Ormond Street Hospital in London every two weeks. The cost of travel is very expensive but necessary. As it is with many of the families, they were initially traveling by train to London for the infusions. Now, because of COVID-19, they travel about 300 miles by car to get there. This takes about three and a half hours each way. Whether by train or by car, traveling to London is difficult but they are doing what they have to do for Grace’s sake. Of course, the practice where Izabela works is very understanding and they work with her as this is very necessary for Grace. Izabela loves her job but it is also necessary that she works in order to afford the costs associated with travel. As was stated previously, David is a stay at home dad. He just loves his little princess, sacrificing any ambitions he may have personally for the good of his family. Simply put, Izabela said this,“We cope. We have to. There is no other way.” I know that it has to be challenging but I bet that there are many sweet memories being formed as time is spent together during their travels. And still, this regimen has to be very tiring. Another precious family that is battling Batten disease. They are all so easy to write about although what is experienced is difficult to put into words.
The lives of David and Izabela have been greatly changed by the events brought on by Batten disease. They have planned on getting married for some time now. Their marriage plans had been postponed when Grace’s condition worsened last year. Now, COVID-19 has gotten in the way but they will get there. I have to believe that the experience of having Grace in their lives will only serve to draw them closer together. I bet that it will. Batten families will often say that they live in the moment and they try not to look too far ahead. Sometimes in life, all you can do is put one foot in front of the other and do the best you can. This special family is doing that and I know that being together is so important. Izabela shares a little bit about coping with this, “The Diagnosis changed all our lives forever, but we stay strong for our little girl. Me? I try to stay strong. I have to for both of them. My work and work friends keep me going. I have a getaway. I can forget when I’m there. When I’m the vet. I love Grace unconditionally.” Grace knows that her mummy works with animals and she loves that about Izabela. Izabela spends a lot of time at work but she has long weekends with David and Grace. There are a lot of special moments that are spent together.
A Difficult Kind of Love
Grace, even with the treatment, is not perfect when it comes to her behavior. She however, is a very beautiful child and so sweet when Batten disease leaves her alone. Here is what Izabela has to say about her daughter, “Grace is still very difficult emotionally and she has behavioural issues. She cannot focus. She can be very aggressive at hitting and biting. But, she’s very loving and caring when Batten lets her be herself. She’s emphatic and very strong. And that’s probably why we argue a lot. She's very much like myself. She wants to be independent and thinks for herself. And what she wants she has to have no matter what. She’ll do fine in life.” In the back of everyone’s mind when they battle Batten is what the future holds for them and their child, or children. Izabela has those concerns but the treatment is buying them time together and there is always hope that a cure will be found. A very real possibility is the advent of Gene Replacement Therapy. Especially in the case of CLN2. It is supposed to be on the horizon, coming very soon. Izabela is cautious in her thinking. She would want to know that it will work and that there are no dangerous side effects that would harm Grace. ERT is working for now, and greatly improving Grace’s quality of life. Whatever the case may be, I know that David and Izabela will do their very best for their daughter. They love Grace in a very big way.
What kind of love is it? I had seen something while reading through the answers to the questions that I had sent Izabela and it stayed with me. I wanted to bring it up in closing and I will do so at the risk of using it out of context. Izabela simply said this, “But there isn’t a harder love.” I think that I understand what she is saying although it is difficult to put into words that are adequate. In regards to the sacrifices that are made on behalf of these children, they are definitely great in size and number. That is one way that love for a Batten child is difficult. To know the eventual outcome and to stay focused and present in the battle is something that has always caused me to admire the parents. Undying love in the midst of it all. The bond that develops has to be stronger than any other. Is it the actions on the part of the parents, or is it the depth of love that they have for their warriors? I think that the depth of love that they possess for their children causes them to do whatever is necessary. It’s love poured out of oneself, even though doing so makes life difficult. When it comes to these children, is it us or is it them? They produce a type of feeling in us that is like none other. I still don’t know if I have answered the question but I will continue to try to understand. The kids that battle Batten are to me especially beautiful. It might be what we know about them, reflected back on the little persons that they are. It is difficult for me to put into words that which I have felt for some time now but I give it my best. Little Grace, you are beautiful and so very special! Best wishes to David and Izabela and thanks to both of you for this opportunity.
Blogger and Advocate
“The love we have for Dylan is so strong that we are just devastated by this diagnosis ... but we have promised him to do everything we can to give him the best quality of life possible (driving 4 hours one way every other week for the rest of his life is just one example).”
Dylan’s Mom and Advocate
Have you ever thought about the quality of lifestyle in a small town as opposed to the experience of living in a big city? I suppose that it is true that time spent in either place has it’s pros and cons. There is much to do in a big city but the speed at which life is lived in a smaller town is often times more comfortable. The pace is slower. People are often more personable and friendly in smaller towns. They know each other more fully and they take the time, more often, to be involved in each other’s lives. This opinion is based on my own observations but I think that there is some truth to it. Some of it is based on my own experience as well. I grew up in San Jose, California. I am dating myself for sure but this took place in the 1960s and up to the late ‘70s.
I can tell you that things have really changed there and I could see the changes taking place even if I was not paying that close of attention. San Jose is now, of course, a major part of Silicon Valley but it had more of a small town quality when I was growing up there. People knew their neighbors and many were involved in each other's lives. As kids, we could roam the neighborhoods and our friend’s parents knew each other even from several blocks away. I know that this type of thing still exists to a degree in larger cities. It is true though, the more busy people get, the less time they have to be involved in each other's lives. My wife’s upbringing was similar to mine, however, she truly did grow up in a small town.
Her little town of Prineville, Oregon is now estimated to have a population of over ten thousand people. The town had only grown to just over five thousand by the time that she left to join the Navy. My wife really understood what it was like to live in a small town. She experienced the intimacy of living in such a place. Growing up amongst her peers wasn’t necessarily any easier but the quality of life experienced in her small town was noticeable. The families in her town knew each other. They were connected through church and civic groups. They were also connected through their children’s attendance in school and all the after school activities that came with that. Certainly, there were families that were lesser known, however, there were family names that were known throughout the community. The connections between the families in her town were often very strong and there was a bond that was shared. You could count on each other’s help when it was needed. Time and the increased busyness of life has changed things but I would like to think that this type of thing still exists. A challenge that might be handled by a large organization in a big city could otherwise be taken care of by one of these well known families in a small town.
A great example of this was borne out in my wife’s own life. She, being the daughter of a minister in this town in central Oregon, was so through adoption. One of seven children, she was first brought to this family by a very caring social worker. You see, her birth parents were incapable of caring for her. As a result, Rosie was brought to the doorsteps of this family in hopes that they would take her in. Of course, they said yes! Her life is a story unto it’s own but here is my point. Her future family’s name was known in the small community (Brookings, Oregon at the time) and this social worker knew where to turn to for help. She would spend the rest of her time prior to entering military service as a member of the family that accepted her on their doorstep. She was forever, after, to be a member of that family! This type of situation could be played out in many small town communities across America and I know that it often is. Perhaps that small town is really a neighborhood within a larger city.
Having a sense of community in the place that you live is important but community often takes place by another means. These days, in the age of technology, a community can be formed over social media. I never realized this until I became aware. You may ask, aware of what? Where I am going next is to speak briefly about the Batten community. What is the Batten community? It is a community (mostly on-line) that exists to support and strengthen families that have children who are battling Batten disease. It needs to be said that the Batten community is only one of many rare disease communities that exist. This, because of the thousands of known rare diseases that affect children. I do feel a connection with the Batten community in particular. This is because I have been taken by the details of these family’s stories as I have been allowed to put them into print. The community is not officially organized although it is supported by a handful of official organizations world wide. The Batten community does not exist because of a membership through an organization. Rather, it exists through a common experience and an empathy that comes through sharing this experience first hand.
Just like it often is in neighborhoods and small towns, there are people in the Batten community that are known and are able to help. Some families are very well known. Some families offer a tremendous amount of support to others in the Batten community, even while not being that well known. I can say through observation and opinion that being a member of the Batten community is not something that would be sought after. Even so, it is also my observation that the Batten community is something very special. This, because of the people that make it up. Mostly, it is because of these children who have a way about them. The feelings that they bring out of people are ones that can’t be adequately described. This next story is about another one of those children. He’s so charming and his story is a special one. Just like many of the others, it starts with two people that meet and fall in love. This is another family story and it takes place in a smaller kind of town, here in America. Let’s get started!
Their Story Begins
Greg Kring and Michelle Delano met through a mutual friend in 1994. They did not know that together, they were a small town story in the making but they did feel an attraction towards one another. Greg had already begun his career at Union Pacific Railroad and Michelle was attending college. She had a career in the medical field in mind and was pursuing an education that would help bring that about. Greg and Michelle didn’t jump into a relationship with both feet right away. Rather, they dated casually at first as their individual futures continued to develop. Of course, over time, their feelings for one another started to deepen and their relationship deepened as a result. It would one day be apparent that the future that they sought for themselves included each other. Dating became more serious and plans for marriage were discussed. They would discuss what each other's goals and desires for their future together would include and in the year 2000, they would wed.
Just like it would be with most people, Greg and Michelle’s plans for the future included having children. Both were career minded and they wanted what was best. They decided that two children was the best fit for them and that is what would come to pass. Their daughter Abby came to them first and she is now, soon to be 21 years of age. Their son Zach followed his big sister a couple of years later and he will be 19 years old this summer. It wouldn’t be long after Greg and Michelle married that their family was complete and it was time to start making their story a reality. Greg’s career at the railroad would continue and Michelle would complete her education in order to be a lab technologist. She would continue in this career, gaining both longevity and knowledge in her field. Life as a family would take shape and this would all take place in small town Nebraska. In North Platte, Nebraska to be exact. That is where their story would develop.
You can just imagine, or know first hand, the types of activities that might take place along the way. Kids with school and school work, and parents working to provide a future. Evenings and weekends being spent together with each other and with extended family as well. Greg’s family background is in farming and time is still spent on the family farm to this day. Togetherness mixed with hard work in order to accomplish life’s goals provide memories that will last. Both Abby and Zach would develop career goals of their own. This, of course, as they grew from being toddlers into young adulthood. My, how time flies! Abby, like her mother, would come to desire a career in the medical field and Zach would want to attend school to be a lawyer. Much of life would be centered around helping Abby and Zach achieve their goals. So, as time moved forward, this family of four worked towards achieving those goals. This, while enjoying the bond that they had with each other. All the while, they never expected that life would be any different than what was being experienced.
I am certain that Greg and Michelle were looking forward to all of the normal life events that come with having children that have grown. Graduations and the start of their kid’s careers, marriages and an increase in the size of the family ... Grandkids! All of those things, they still look forward to but time and circumstance would bring an unexpected person into their lives. Their small town story would change in a very significant way and that would all take shape in the summer of the year 2015. That is when they would meet someone who would impact their lives like none other. Hearts would be captured by a little man named Dylan. All you have to do to understand is to look at the early pictures of Dylan (and even the most recent). From the very beginning, he was such a charming little fellow. Michelle had met Dylan for the first time in June of 2015 when he was only a week old. You see Dylan’s grandmother, Casey, was best friends with Michelle’s mom and that is how the connection was first made. Dylan had been born healthy and his delivery into this world happened without complication.
The Orchestated Life
The complications that did exist in Dylan’s life had to do with his birth parents, both of which were young. Neither were really capable of providing the care that Dylan needed. It is sometimes the circumstances that surround a child’s life that the parents are not yet ready to take on the responsibility of raising a child. This, for various reasons, was the situation with Dylan’s life. His mom and dad were not able to provide him with a proper foundation and both agreed that was so. Sometimes, a child’s entrance into a family appears to be a random occurrence but please make no mistake, Dylan’s life is no accident. His meeting Michelle and her family came with great purpose. One might say that the events that would follow show that his life has been orchestrated. It is not necessary to go into complete detail but Dylan’s situation would dictate the need for the intervention of the court. His situation would also involve the help of a social worker at the beginning of Dylan’s days on the planet. The involvement of Michelle and her family would begin to take place as she was asked to help provide respite care for Dylan. This, by Dylan’s grandmother, or his MeMaw as she would soon become known through Dylan.
Some of the very things that the Krings sought for their own family were the things that would be recognized by Dylan’s case worker. The most prominent being the stability that existed in their home. You see, Dylan had been removed from the situation that he was in and he would have to be placed in someone’s care. It was not that Dylan was not loved or wanted by the members of his biological family. It’s just that caring for a child his age brought challenges that needed to be handled by someone that could provide that stability. Greg and Michelle would be approached about the possibility of them becoming Dylan’s legal guardians. They agreed to consider this, thinking that assuming guardianship would be done so on a short term basis. This had to be considered as such. After all, their family was complete. Michelle was “finished” having children and they were working towards having an empty nest. Both Abby and Zach were focused on completing their own goals, even with being teenagers at this time. Having Dylan at their home would involve the entire family and so, for that reason, a family meeting was held. Michelle wanted to know how the kids felt about this. Abby was 16 years old at the time and Zach was 14. The sentiments expressed by the kids would not be surprising. Abby was, of course “super excited” and Zach was indifferent towards the proposal. Just as you would expect a 14 year old boy to be. He was okay with the idea. He just didn’t care to have any additional responsibilities because of Dylan’s presence.
The family had started doing respite care for Dylan in July of 2015. By September, mediation on Dylan’s behalf took place. He would first be placed with the Krings on a temporary basis but then, his placement would become permanent. What do you think happened as Dylan stayed with the Krings? The answer is that they fell for him completely. That is what Michelle stated with the following, “The longer Dylan stayed, the more our family fell in love with him and he became ours.” Dylan would fit right in at the Kring house. He even looked physically like he was a naturally born sibling within the family. Dylan would go from being someone that Zac was indifferent towards, to being Zac’s little brother. You know what I mean, don’t you? He was so completely charming and so happy. Dylan has a twinkle in his eye and his smile lights up any room that he is in. He’s a busy little man and so full of energy. Dylan loves to talk and he does a lot of that. (I don’t want to get ahead of the story but I got to hear Dylan talking over the phone as I discussed details with Michelle for this story. His charm was clearly evident, even from a great distance away. Hearing him after seeing his pictures was amazing!)
Life would continue for the four Kring family members, just as had been expected but they now had this little charmer in their lives. Life was good, just as before but they now had this presence that brought added joy to the household. The longer he was with this family, the deeper the love connection between him and the Krings! Dylan had been evaluated by Early Childhood Development through the age of 3. This, because of his removal and placement into the Kring home. He would then be released from the program because he was meeting or exceeding all of his developmental milestones. Dylan quickly became part of the family and he belonged to them. Just like with his new brother and sister, Greg and Michelle had a future for Dylan in mind. They would even begin a college fund for Dylan. This little guy was loved and his future looked as bright as can be. His coming to this family was no accident. Some would even say that his presence in the Kring house was divinely purposed. Regardless of what his future would hold, Dylan was home and he was feeling the love of an entire family. He was not just feeling the love from his new family but from his biological family as well. This, because spending time with everyone was highly encouraged. Time spent with his “biologicals” would include his grandparents, both maternal and paternal. Dylan would continue to be a much loved little man. Can you see why that would be? Of course, there would be challenges along the way. That would be expected but there were things to come that no one knew even existed.
It seems that most all children experience some of life’s difficulties along the way. Bumps and bruises, broken bones or just lots of scraped knees. That is the normal hardships that are experienced by little people along the way. I’ve said this before but it’s worth repeating here. A child’s life should be filled with laughter and innocent fun as life’s lessons are learned. Sometimes though, there are more difficult things that are experienced by children. These are the things that often leave us heartbroken for a time but hopefully, they are things that can be overcome. No doubt, it would be expected that a little boy like Dylan would see some normal types of troubles along the way but he would start to experience more than that. One of the most alarming things that can take place is a parent witnessing their child having a seizure. These can sometimes be an isolated occurrence but many times, they are indicative of a condition that requires treatment. Either way, they are frightening to experience for the first time. Dylan’s health had been normal and his development had been right on track up until February of 2018. That is when he experienced a seizure for the first time. He was taken to the emergency room where they determined that he had experienced a febrile seizure and they were adamant that this is what had occured. The problem is that this type of seizure is brought on by an elevated temperature and Dylan did not have a fever. There is nothing more that Greg and Michelle could have done at the time other than take Dylan home.
I am certain that both of his parents were concerned and watchful for anything that might follow. It was also in February of 2018 that the Krings petitioned the court for the purpose of adopting Dylan. Their commitment to Dylan was for a lifetime and they were hoping to make him their adopted son. The result of the Krings petition would not be what they had desired. Greg and Michelle were told that the rights of Dylan’s birth mother came into play and she was not willing to allow this to happen. This, even though Dylan’s birth father was ready to sign over Dylan to the Krings. It would not be proper to villainize the actions of a young girl and Dylan’s birth mom. This is being written just to state the reality of what would take place. So the result would be that Greg and Michelle were not able to legally adopt Dylan. Even with this, the guardianship for Dylan is still intact to this day. He is exactly where he needed to be and this would be proven to be the case as his situation continued to develop. I mentioned that it has been suggested that the events surrounding Dylan’s life have been orchestrated. The fact is that even the disappointment over not being able to adopt this little guy came with a purpose. This would have to do with controlling the costs of Dylan’s future medical care. There was more to come. Much more.
The seizures would recur. In fact, little Dylan would experience a cluster of seizures the following month. This was at the end of March. The event would see him being transported to Children’s Hospital in Omaha via ambulance. Once there, they would keep Dylan for evaluation over a three day period. As one might guess to be the case, he was given the initial diagnosis of epilepsy. With that, Dylan was prescribed medication and that would bring the seizures under control. The seizures would be controlled for a few months but then, things would change. As January of 2019 rolled around, Dylan had yet another seizure and a change of medication would take place. New symptoms would develop during this period of time and they would be even more alarming. The symptoms included slurred speech and confusion. Dylan also was experiencing bouts with Ataxia. This involves a lack of muscle control and coordination. The Krings were seeing regression in Dylan’s basic skills. What was it that was taking place with this sweet little man? Why him? Was all of this just simple epilepsy or was there more to Dylan’s situation? Perhaps there was something that he was genetically predisposed to but nobody yet knew the answer.
Issues with insurance can oftentimes get in the way of receiving what is needed and that would happen with Dylan. There were certain medications that were denied payment by Dylan’s insurance and to make things worse, medications that were available would cause allergic reactions. What can you possibly do in this case? For a time, it was decided that Dylan would be weaned completely off of all medication. This would, of course, not be a long term solution but rather, a way to establish a baseline for continued treatment. The first half of 2019 was extremely busy for Dylan and the Krings as the number of doctor appointments continued to increase. Trips to the doctor started with the family physician and then a pediatrician. Finally, Dylan would find himself at the neurologists office in Omaha. Dylan’s regression was becoming difficult to miss as the symptoms continued to develop. It was in May of 2019 that Dylan’s older brother graduated from high school and there was extended family in town for the event. There before everyone was Dylan with other nieces and nephews his age. It was easy to compare him to his cousins and see how far behind he had become in his early childhood development. He was still having issues with balance and speech and this event would only serve to make those issues stand out all the more. What was happening to this sweet little guy that was so loved by all?
Finding The Source of Trouble
Michelle’s experience in the medical field, and specifically, as a lab technician would soon prove it’s value for aiding in the diagnosis of Dylan. If nothing else it caused her to be a very formidable advocate for her son. Even though her area of medicine did not include genetics, her background and training in a laboratory setting would eventually help her in the search for answers. As I have already stated, Dylan’s appointments would include a trip to the neurologist. This would happen in July after the neurologist office was convinced by Michelle that they needed to see Dylan for evaluation. The need was obvious. Once there, Dylan would be admitted, spending 17 days as an impatient. He would undergo a battery of tests in hopes of determining the cause of his regression. Michelle stated that the testing included two full body MRIs. Neither of which found anything of significance. There was mention of cerebral atrophy during the first MRI due to Dylan’s seizures but again, nothing significant had been found.
One of the conditions that doctors examined Dylan for was neuroblastoma. This is a form of cancer that can affect children. It would have been serious for certain had this been the diagnosis but Dylan would be cleared of this through a test called a MIBG scan. Dylan came home on a Thursday but would return for follow-up the following Monday. Still not knowing what was taking place with young Dylan, medical staff suspected encephalitis. This could have, potentially, lead to an incorrect form of treatment but that diagnosis would also be proven to be incorrect. This is where Michelle’s experience really came into play and it is another aspect of Dylan’s life being orchestrated. Michelle works in a lab and one of her responsibilities has to do with finding tests for the analysis of rare substances and molecules. She had found a free genetic panel that was available through a company named Invitae Genetics (They are partnered with a company named Biomarin). The panel is used to perform testing on patients that suffer from unprovoked epilepsy and that fit Dylan’s current diagnosis. It was Michelle that asked Dylan’s neurologist to order the test and that was done as a result. Michelle said that she had a “gut feeling” that something was really wrong with Dylan. She is no ordinary mom! So it was on that Monday, during the second admission that many labs were drawn. This included those needed for the genetic testing. At that time, while there at Children’s hospital, Dylan was seen by another neurologist that rotated from one hospital to the other (known as a Locum Doctor). This neurologist knew what she was seeing in Dylan.
This doctor was on the correct path as soon as she laid eyes on young Dylan. Another piece of orchestration perhaps! Her presence changed everything and the direction taken for finding the diagnosis would be changed as a result. This neurologist suspected that Dylan had Batten disease but it wouldn’t be until that Wednesday that she discussed her feelings about Dylan with Michelle. What do you think that Michelle did upon learning about the disease? What would any mom do? Especially one that was already used to doing medical research? She began to do research on Batten disease. A disease that she had not known of up to this point. The more that she read about the disease, the more convinced she was that Dylan had Batten disease. I feel like I have gotten to know Michelle a little bit over the course of doing this story. She is a fierce advocate for Dylan. Michelle is someone that any medical provider would want to listen to and someone who can get things done when there are obstacles in the way. She is someone that a person might refer to as a “tough cookie” … a no-nonsense type of individual. Michelle was not completely ready to process what she knew was the truth. A person’s tough exterior can be melted away in times of quiet, when left alone to their thoughts and feelings. Michelle, more than anything is a mom and she knew at this time that Dylan had Batten disease. In tears, throughout the night, she held Dylan in her arms. This, even before the diagnosis had been confirmed.
So it was on Thursday that more blood work was drawn for the purpose of testing Dylan’s TPP1 enzyme level. This test is specific to the CLN2 variant of Batten disease. The bloodwork for the genetic panel had already been drawn. Children’s hospital contacted Invitae Genetics to see if Dylan’s tests could be processed as soon as possible. In response, they very graciously expedited the testing. The test results for the TPP1 enzyme level were received the following Friday and the genetic panel results came in the week that followed. The results were just as had been suspected, although that didn’t make it any easier to digest. Dylan’s enzyme levels were deficient and the genetic panel showed a positive result for CLN2 Batten disease. Dylan was on a journey and the Kring family had been placed in his life to help him along the way. Dylan had already captured everybody’s heart. This would, of course, include Abby and Zac’s. The entire family was devastated. Even though greater awareness concerning Batten disease has taken place, it is still relatively unknown. None of Dylan’s primary doctors had ever heard of Batten disease. It was even questioned as to whether or not the lab results had been in error. To this, Michelle’s response was simply, “Um, no!” She had complete confidence in the work that had been done on Dylan’s behalf. Michelle stated that all of Dylan’s doctors are willing to do whatever is best for Dylan. However, it is the Kring’s diligent effort in coordinating Dylan’s needs that make a difference. This, with neurologists, and in Dylan’s general care.
Like so many before them, this family scoured the internet for anything that would help Dylan. They looked for information on anything that would help and any clinical trial that might be available. They were willing to travel any distance that was necessary to help this little guy that had captured their heart. Many times over now, I have recounted the details concerning families that receive this awful diagnosis for their child. The Krings at this point had established plans and ideas for what they wanted for Dylan. It seemed now that all of that was gone. This is what Michelle had to say concerning the experience, “Personally, we had never heard of NCL's or Batten Disease or knew of its existence … and I work in the medical field. The diagnosis has been devastating, heart breaking, and life altering. All the things you plan for your baby are gone.” It is so sad to even discuss such things but Greg and Michelle would go on to cancel Dylan’s college fund. Make no mistake, there were many future sacrifices that would be made on Dylan’s behalf, many being monetary in nature. They just didn’t see college as being a viable prospect for Dylan. Wouldn’t it be wonderful if Batten disease could be stopped in its tracks when a diagnosis is received?
There needed to be a discussion between Greg and Michelle concerning this diagnosis. Yes, they had chosen to become Dylan’s legal guardians and he became one of the family but this was a heavy commitment. What about the other two children? There was still much to do in seeing them get off to a good start in life. As has been stated, the Krings had tried to legally adopt Dylan but they were denied. Would they really stand by this child who was not naturally theirs or not even theirs by adoption? How would this impact the family? Both Greg and Michelle had to be on the same page. They had to be in agreement. I am sure that Michelle knew what Greg’s thoughts were but she needed to hear what he was feeling to be sure. She says as much with the following and the following tells you much about Greg Kring. Here is what was said, “Dylan's dad, Greg, and I had to sit down and have that conversation of what our plan is. A terminal diagnosis can rip the strongest of families apart and when the child is not biologically or legally yours, you both have to be on the same page. Greg flat out stated, ‘we PICKED him. He is ours and we will take care of him until God calls him home.’ I knew that would be his answer, but I had to hear him say it, I had to know that we were both going to be there to support Dylan and give him the absolute best life he could have.” As much as I have tried to make this story about a small town family, it is also about a little person whose life has been orchestrated. I agree with Greg Kring that they chose to take in Dylan but I also believe that Dylan was chosen for them. Yes, Dylan’s life has been orchestrated and it has been done so by none other than the Conductor himself. Dylan’s life has already impacted the lives of many. None more so than those who know him the best. That being his family, the Krings.
Just as is most often the case, Batten parents regroup and take action. They do whatever they can to help their little warrior fight the battle that is Batten. Michelle would do the research and find that there was a treatment available to help Dylan. Enzyme Replacement Therapy had become available. While not a cure, the treatment uses a solution that would take the place of the enzyme that Dylan’s body was not producing on its own. The solution called Brineura was available through the company named Biomarin. With ERT, the child receives an infusion to the brain every other week that is administered through a port that is surgically implanted. Dylan had access to this treatment but it would not come without complications. Nebraska does not have a complex drug program and even if they did, the medical facilities nearby may not be adequate for the procedure that Dylan needed. Neighboring Colorado, specifically Denver’s Children’s hospital was a perfect fit for Dylan. Michelle said that they would be gracious enough to allow Dylan to be part of their complex drug program. One of the challenges that was faced in this was that Dylan would have to cross state lines. With Dylan being a ward of the court, he had Medicaid insurance and in that case, Colorado would be out of network. That meant hang-ups with prior-authorization and getting the process started. Michelle would tackle this obstacle which, I know, can be frustrating in itself. She took care of the forms and handled the prior-authorization.
Included as an obstacle was the need to make phone calls to offices of their senator and the governor. This to explain that what was being asked for was an FDA approved procedure. Of course, people baulked at the cost but Michelle stated that she wasn’t going to allow anyone to put a “price tag” on their son’s head. Michelle received the approval. She stated that it took just under three weeks for the approval by insurance, placement of the port in Dylan’s head, and Dylan’s first infusion. That is rather quick by most people’s standards and I am certain that much of this had to do with Michelle’s character. She strikes me as being the tenacious type and somebody who you would want in your corner. Something that also needs to be talked about is the level of commitment needed from Michelle and really, the entire family. I have talked about Batten moms in the past and what they will do in order to give their Batten warrior the best possible opportunity to succeed. Speaking specifically about those who have this therapy available to their children. They will often drive long distances, sometimes into early morning hours, to get their children to the facility where they will receive this treatment. They then drive back home.
A Mom’s Commitment
Michelle would commit to driving Dylan four hours, one way, every two weeks from their home in Nebraska to Children’ s hospital in Denver. She will do this for as long as Dylan is in the program. Dylan’s lifetime. That’s the kind of character that you will often see in a small town but I know that these kinds of moms can live anywhere! Michelle referred to Dylan as a “rockstar” and I think that many of us would agree with that. They love Dylan at Children’s hospital in Denver. The staff there enjoys having Dylan in the program and they are very supportive of the Kring family. Dylan is met with smiles and big high fives every time he shows up for his treatment. The team that administers his infusion is highly skilled and they do a great job with the little rockstar. Truth be known though, Dylan hates the infusions and he fights the process the entire time. Michelle doesn’t mind seeing the fight in Dylan. She doesn’t ever want to see him lose his “fighting spirit”. Michelle stated that the medical staff has started giving Dylan a mild sedative to help take the edge off. This was just better for everyone's safety. The fact that the treatment that Dylan receives in Denver is available with an affordable cost is also part of his life being orchestrated. This was alluded to earlier in regards to the “No” decision for Dylan’s adoption. Had Dylan’s adoption been approved, more of the cost of the treatments would have fallen on the Krings. Much more!
I believe that everyone that is part of Dylan’s life is extremely happy that Greg and Michelle are Dylan’s guardians. Parents rather! Family is not always according to bloodline. The Krings have proven their love for Dylan through an extraordinary kind of commitment. They are showing the same type of undying love for Dylan that countless others in the Batten community have expressed through their actions. This is one of the reasons that I write. I have a list of questions that I ask Batten families. I ask for written responses in order to do each story. One question that I always ask in closing is this. “What is your love for (insert name - Batten child) like?” Of course, I asked Michelle this question. Her response was a combination of what I used for the opening quote and also the following. Here is what she had to say, “Our love for Dylan is completely unconditional. We PICKED him, or maybe he picked us, but there was definitely a lot of forces driving him into our lives.” You could look at Dylan’s presence at the Kring house from different perspectives but regardless of which one that you choose, Dylan belongs with this family. Some of the best stories take place in small town America!
It can melt a person’s heart to think about how Dylan has impacted the lives of this family. He is as much of a little brother to Abby and Zach as anyone can be. Dylan has endeared himself to both of them, just as should be expected. Who could resist his little face? And his charm? The pictures speak for themselves. Michelle stated that Dylan’s diagnosis has been difficult on both Abby and Zac. Zac had an opportunity to travel to Argentina to be an exchange student shortly after Dylan’s diagnosis. Leaving at that time was a very difficult thing for Zac, but it was an opportunity that could not be passed up. The good news is that as this is being written, Zac is on the way home. I know that he is excited about seeing his family again and I know, that includes the little Dylan man! Zac will be attending college at the University of Nebraska - Lincoln in the fall with intentions to gain his law degree. Abby is crazy about Dylan and she is very good with her little brother, both in play and in care of him. This is another special bond. Guess what? Abby has made the decision to finish her education for the purpose of becoming a Medical Laboratory Scientist. This is actually a change in career choice that has been brought on through Dylan’s diagnosis. Well done Abby. I know that you will be one of the best! Abby will be attending the MLS program at the University of Nebraska Medical Center and everyone, I am sure, wishes her complete success!
There are so many people in North Platte and beyond that love Dylan. Included in this bunch is his maternal grandmother Casey Dewey, also known as Dylan’s Memaw! Mike and Julie Snider are Dylan’s paternal grandparents. They are both crazy in love with Dylan, just like many are. Julie likes to accompany Dylan and Michelle on occasion during their bi-weekly trips to Denver. Dylan you are so worth the time! Dylan is, of course, also loved by Greg and Michelle’s extended family. One that I will mention, because I know her through social media, is Michelle’s mom, Roni Pittman. I know that she loves Dylan a whole big bunch! Dylan has a great big family and everyone appreciates what the Krings bring to Dylan’s life. Michelle talked briefly about family involvement with the following, “Dylan has a lot of people in his life that love him. His biological parents love him, they are just not able to give him what he needs. His paternal grandparents and maternal grandmother are all very involved in his life. He has aunts and uncles from his biological family that are also involved, but his day to day care resides with Greg and I.” Did I forget to mention that Greg Kring is an awesome daddy to Dylan? Well, I am telling you now that he is. How do I know these things? I just do! Dylan also has a growing army of followers and people that contribute to his care. How could you possibly resist the opportunity to help!
You can only guess that it is not all “peaches and cream” with Dylan’s story. There are many challenges along the way when it comes to the journey that is Batten disease. There has been a lot of progress in research and Gene Replacement Therapy is said to be coming soon. It can’t come soon enough for the parents of these beautiful children. Each one is a rockstar and they truly are, the reason that I write. It is best to take things one day at a time while planning as best that you can and that is what most Batten families do. One step at a time, one day at a time, without looking too far ahead. That is the way Michelle looks at things. She shared a little bit about their thinking in her closing comments to me. Here is what she had to say, “I cannot look into the future, it makes my head spin. I am a realist and know what this horrid disease is going to take from our precious boy and with that I can only live day to day. Dad (Greg) has a ton more faith than I do, he wants to be a better Christian so that he will be reunited with Dylan when the time comes. I do have faith that God will provide us with everything we need to make Dylan's life the best possible while he is with us.”
So there you have it. This is a story that takes place in a small town but it’s anything but a small story. At least, not in this writer’s opinion. Whatever the future holds for little Dylan, he will always know how much he is loved. He is such a charming little man. I hate Batten disease but I love the ones that battle it. I know that I am not alone in this. I am thankful for the Kring family and I agree that Dylan’s life has been orchestrated, even though he battles this dreaded disease. This little warrior has a lot of living left to do. There is always hope as long as there are people that are working towards a cure for CLN2 Batten disease, and there are! In any case, how many lives will Dylan’s life touch along the way? How many lives will he change? There truly is something special about these children. They capture the hearts of those who take the time to let it happen. Let it happen! I so appreciate every opportunity that I am given to help tell these stories and I am so happy to have Dylan’s story in this blog. Thanks for taking the time!
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“To say our world was shattered doesn't even come close to capturing how we felt. Visions of Amelia growing up with her cousins … gone. The hope of watching her play sports, learning to read, having her climb into bed with us to snuggle, dancing around the living room while watching the same Disney movie for the thousandth time … gone.”
It takes place in many households across America, and in places from beyond. There are stories that are created as families grow and bonds develop. Two people meet and fall in love. Sometimes, things start off as just a friendship but then, feelings deepen and the relationship grows. Marriage comes and life continues. Generations pass as a family comes from that union and as a result, the size of the kinship continues to grow. Time passes so quickly and before you know it, there are cousins, and nephews, and nieces. There are uncles and aunts, and let’s not forget about grandparents. That, after all, is how the entire thing got started. Families function best when there is love involved in everything that takes place. A solid support structure evolves and many memories are made as time is spent together. Cousins often become as close as brothers and sisters. Time is spent together on holidays and special events like graduations and weddings. Family reunions happen as the years go by. You get the idea. This is much of what life is all about and that is what it was supposed to be like. Celebrating family and being together!
And yet, there are struggles that often come along. It is often the case that trouble strikes in a family. Perhaps it’s a wayward child (or adult) that we are talking about. Health problems always affect families at some point. When it happens in a close knit family, others struggle along with those who are suffering. Sometimes, a child is born that will have special needs. This can initially be very discouraging and traumatic to new parents. I suppose that it can depend upon the severity of the child’s condition. People, in general, tend to adjust in time. The initial disappointment gives way to a love that cannot be suppressed. I have often said that with an increased need for care comes an increased bond with a child. Depending on the situation, and I suppose the child’s disposition, the extra challenges can bring with them and increase of joy and adoration. That person that requires all of that extra love and attention gains favored status. That status may be given to that special child by all of the other members of the family. That is the way that it should be. Am I stating the obvious here? Please bear with me!
My son Benjamin was born with special needs and his story is a big part of mine. People who have read the stories that I write know who my son is. Benjamin was born third in line behind two big brothers. It was obvious to us soon after he was born that not all was right with our number three son. We knew that this was related to family history involving a genetic disorder. He did not reach all of his milestones and he would, in fact have developmental delays. In addition to the delays that are still part of his condition, Benjamin has a seizure disorder for which he currently takes the drug named Keppra. Benjamin also has autism and this is perhaps the most prominent part of his condition. Benjamin is autistic. For a person that is obviously quite different in appearance, Benjamin is also very attractive. The best part is that he has a very sweet disposition and his mannerisms can be quite humorous. Benjamin has a most favored person status at our house and so it should be. My son will never achieve what others will but his life has value beyond any measure that can be counted. He is special and I am so glad that he is part of my life.
The sensitivity that I have towards my son’s life has lent itself to a love of others who have special needs. That sensitivity to people with special needs lends itself to those who come to their families having a rare disease such as Batten. I first had to be made aware but that is all that it took. I am always careful when drawing comparisons to a family that battles Batten. I acknowledge that the things that these families face are far more difficult than anything we have experienced with Benjamin. The stories that I have written about those who battle Batten have changed my focus and my perspective about life. This started with the life of one little girl and it has intensified with each family that I have been allowed to write about. These families’ stories can have a profound effect on any who take notice. I have been affected deeply many times by having the opportunity to tell their stories to others. What would it be like for you if you pored over the details of people’s journeys with Batten? Each story is special for different reasons although there are similarities between the journeys. This next story is about a growing family. They are all on a journey together because of the close-knitness that exists between them. Whether living in the same town or miles away from home, each one has depth of feeling and a profound love for one very special warrior princess. As is often the case, the story begins with two people that meet and fall in love. That’s the way that it should be and that is the way that this story begins. Let's back up a little bit though!
This story could be taking place in any city in America. In fact, it’s the kind of story that often does. Too often. This particular one begins in the surroundings of the Pacific Northwest, and in the state Washington to be exact. Graham, Washington, was once a sleepy little town but like a lot of cities in the Northwest, it has grown. As Jerry and Kris Bonagofsky raised a family, they would do so from their home in Graham. It is true that there is no place like home and this home would stay theirs even until this day. They had three daughters and the Bonagofskys were proud of each one of them. They loved names that started with the letter “J” and so their daughters would be named appropriately. Jennifer was the oldest and she was followed by her two sisters, Jessica and Julia. This story is about a family but it surrounds the life of Jennifer. It is true though that the entire family would continue to be part of the whole. This family’s story was typical in many ways and one thing was for sure, mom and dad loved each other and they loved their three daughters. There were uncles and aunts, and nieces and nephews. Jennifer was surrounded by family at an early age and having a family of her own would one day be part of what she saw for her future. Not only were there her two sisters but there were many cousins too. Jennifer’s mom did daycare for both neighbors and employees of the local school district. Caring for children was something that Jennifer was exposed to early and it was something that appealed to her.
Meant For Each Other
Jennifer was aware from a very young age that she wanted children of her own. She thought that she would want four children at a minimum but Jennifer felt that she would want to have even more than that. Being around other children not only shaped her desires for her future personally. It also had an impact on what she wanted to do professionally. Jennifer wanted to teach. A mom and a teacher, those were her goals from an early age. Growing up in her home and as part of a family, Jennifer continued to be influenced by her surroundings. She loved school and Jennifer loved music as well. This would not only help shape her future but it would also bring her into contact with a person that would one day be her life partner. Let me not get ahead of myself though. It was the year 1994 and Jennifer was attending junior high school. In addition to her studies, she was participating in the school band. Many of her friends were fellow band members and it was through them that she met a boy named Philip. Philip and his family had lived in a city named Goose Creek in the state of South Carolina but had moved to Washington state in 1994. Moving with Philip was his dad and mom, Sonny and Esther. Philip also had two sisters that were his senior. Their names were Joanne and Althea.
“Two band nerds,” as Jennifer referred to herself and Philip, they started hanging out together because of mutual friends. Philip was a percussionist and Jennifer played the clarinet. Jennifer said that it would be over the next several years that she and Philip would become really close friends. This happened as they moved to the next grade level together. They would both attend Bethel High School together and their friendship would continue to grow into one that was very close. Philip and Jennifer would continue to perform together with the school band, doing so at both football and and basketball games. Jennifer said that the memories of performing together include band trips taken to places like Canada and Disneyland. Both her and Philip were focused on their futures as their friendship became increasingly close. Jennifer described to me what their daily interaction was like and she also described the growth of the relationship with the following, “We tied up the phone lines every evening on the phone and wrote letters back and forth, passing them between classes. We didn’t officially start dating until after our senior year in high school. We had attended the senior prom together as friends, but toward the end of the school year a deeper relationship was forming.”
A friendship that began in junior high, continued all the way through high school. Things would not end there. Both Philip and Jennifer had plans for the future and their plans included a family and a college education. All of the notes handed to each other at school and time spent on the phone. This time spent had to include details about what each of them wanted and it would soon be clear that they wanted their future to include each other. Philip started attending Pacific Lutheran University in Tacoma, in 1998. His plans were to gain a degree in communications that had an emphasis on print journalism. Jennifer would attend Pierce College in nearby Steilacoom, Washington, while she continued to live at home. Her desire was still to teach after college and she would one day achieve that goal. After two years at Pierce, Jennifer transferred to Pacific Lutheran where she continued her education. Both Philip and Jennifer would graduate together in 2002, each gaining their bachelor’s degree. The pieces of the picture that would make up their future were coming together nicely. It would appear that this couple was focused when it came to mapping out their future and that is a good thing. Marriage was definitely in their plans at this point and they started to put those plans into place after their graduation. It was in 2003, after becoming engaged to one another, that Philip and Jennifer found an apartment in Puyallup, Washington. They would marry in 2004 in front of a crowd made up of friends and family. It wasn’t a fancy wedding but it was perfect. There was plenty of food, dancing, and fun. They were together in marriage and they were also together with family. Things were just as they should be.
It was 2005 when Philip and Jennifer bought their first home in Spanaway, Washington. Jennifer stated that it was a small one-story home in a relatively quiet neighborhood. They were just starting their life together and together, they welcomed a new family member into their home. It was a little Bichon Frise puppy who they named Oliver. The couple stayed close to family both in distance and in time spent together but they decided that it was best to wait to have children of their own. They felt that they had “plenty of time” to start a family as they were only twenty-four years old at the time. Philip and Jennifer wanted to be established in a career and also wanted to be financially stable. They had put together a solid plan and they would carry it out with care. Taking the time to attend college would pay off for both of them as their education help them attain the positions that they sought after. Philip started working at a local newspaper, The Puyallup Herald. Philip would work both as a reporter and as a photographer. Jennifer gained a position as a special education teacher at Harbor Heights Elementary School in Gig Harbor, Washington. I can only imagine that both of their families were very proud of each of them and they were excited for what the future held for them as a couple.
Time passes and families grow as siblings find their life partners. Kids come as marriages grow and memories of being together as a growing family start to be formed. Philip and Jennifer had both become established in their chosen career fields, both being at it for close to a decade. It was time to start working on having the family that they both desired but that needed to be approached with caution. You see, Jennifer is a Type I diabetic. Pregnancy can always bring with it complications for an expectant mother. You can only imagine that blood sugar levels that are not well controlled during pregnancy can bring with it complications that are detrimental. Jennifer had a lot of experience with issues related to diabetes as she had been diagnosed when she was only four years old. For those not already aware, there is a test called the A1C that is done regularly to check how well a diabetic’s body is managing blood sugar levels. Jennifer knew that her A1C needed to be in good condition for pregnancy. This lady that wanted to be a mom was an educated person who was also educating in life. Here is what she said about the need for caution and the actions that she took as a result, “I knew we needed to go about this strategically and with everything in order. I began working with my endocrinologist on getting a continuous glucose monitor to pair with my insulin pump. The hope was to get better control of my diabetes and lower my A1C for pregnancy. I believe this was back in 2013. After a battle with insurance, I was finally approved for a continuous glucose monitor and was able to lower and maintain my average sugar levels at a range that was safe for pregnancy. We got the green light.”
Jennifer’s history with diabetes had proven to be an obstacle for her in becoming an expectant mother but there would be another obstacle altogether. She explains in brief with the following, “The ironic thing about this journey is that I always assumed that my diabetes would be the biggest issue regarding pregnancy. This was not the case at all! We just couldn’t get pregnant.” Jennifer went on to say that her and Philip felt panicked over the situation as at this time, they were both thirty-five years of age. They had been careful in planning their family in order to give their future children the very best, and now this happens. Just like most anyone would, the couple sought help from medical professionals to determine what was hindering them. Philip and Jennifer wound up at Seattle Reproductive Medicine where they would perform all the usual types of testing. This came as a large out-of-pocket expense. Jennifer stated that they actually spent “tons of money.” This would testify to just how much they wanted a baby at this point. The tests that were run determined that Jennifer had a blocked fallopian tube and that she also had a low egg reserve. She used words like devastated and crushed to describe how they felt upon being given this news. Jennifer went on further to say what she was thinking, “It felt as though I was broken and defective. Why can’t my body do what everyone else’s seems to do so easily and naturally?”
Problems in Pregnancy
There were siblings in the family that already had children of their own. Philip had a nephew that had been born in 1994 and Jennifer’s younger sister Julia had already had two kids. Allison had been born in 2010 and Jakob in 2013. Certainly, Philip and Jennifer were happy for their extended family but they dearly wanted to have a child of their own. They had wanted to experience the challenges and the joy that comes with parenting. Remember, Jennifer had wanted multiple children and yet, they were faced with this obstacle. One that was even a larger challenge than the issue with Jennifer’s diabetes. Jennifer talked about what she and Philip had been feeling at the time, “Philip and I went through all of those natural emotions … anger, frustration, sadness, desperation for a family. It seemed like everyone around us was getting pregnant and talking about how annoying pregnancy was or how much they hated it. I would have done anything to have morning sickness and swollen feet!” Certainly, in this day and age, there are options for treatment and for help in getting pregnant. This couple would continue to seek out that help. Jennifer stated that over the span of a year and a half, they would do nine different IUIs (Intrauterine inseminations). The result would be two different pregnancies, both resulting in miscarriages. How heartbreaking and how discouraging! They did not, however, give up but rather decided to move to in vitro fertilization (IVF). This would also not be easy.
There are steps that are taken by doctors to help the patient to produce a larger than normal quantity of eggs for harvesting. Doing so increases the chances of an egg being fertilized during the next step in the process. In this process, the goal is to have as many eggs fertilized as possible. This increases the likelihood of pregnancy. For Jennifer’s part, she had to endure receiving injections and she had to be on medication as well. Another thing that was an issue was the higher levels of estrogen that are produced during the IVF process. This can cause an increase in mood swings and that was also experienced by Jennifer. In the end, going through IVF would be worth it. Jennifer stated that as they did the egg retrieval, they removed ten eggs but only four of them were fertilized. There is a short period of time in between harvesting eggs and implantation of those which are fertilized. Jennifer would tell me that by day five, there was only one embryo that was suitable for implantation. In other cases, there are times in which there are multiple embryos for implantation. They can also be stored in a freezer to be implanted at a later date. This was not the case for Philip and Jennifer. They only had the one egg and would be told that there was only a 25% chance that the egg would be implanted successfully. Some would consider it necessary that a miracle would need to take place under those circumstances.
It is just a matter of days, as the entire process takes place, that successful implantation is determined. This, through blood work that is performed. Just as one would expect, Jennifer remembers the day. It was August 12, 2016, and Jennifer remembers where she and Philip were at the time. They were having lunch together on the coast, in a town named Westport. This was one of their favorite places to visit because Jennifer’s grandparents used to lived there. There were lots of memories associated with this town, and now, there would be even more. The couple was eating lunch at a little “hole in the wall” seafood restaurant when the IVF nurse called. The sun was shining that day but their world got even brighter as the news was received. Jennifer was pregnant! Philip and Jennifer were so happy and maybe a little nervous at the same time. After experiencing miscarriages before, they were slightly afraid that the pregnancy wouldn’t stick. And yet, the couple was elated and extremely optimistic. It was a wonderful experience. They headed for the beach after lunch where they flew a kite, walked on the beach, and took lots of pictures. Jennifer stated that it was a “great day” and indeed it was! They were elated and you just know that the rest of the family was very happy for them. A new addition to the family and Philip and Jennifer were so very deserving after all they had experience previously. This baby would stay put in mom’s tummy and the pregnancy would progress. However, it wouldn’t do so without further challenges.
Jennifer would experience no morning sickness during the pregnancy and her diabetes would be kept under control. She said that her sugar levels were lower than they ever had been before. That however, would take some work and she would have to be monitored closely. Her insulin intake would have to be adjusted frequently. Jennifer stated that by the end of her pregnancy, she was taking three to four times more insulin than she was taking beforehand. Every expectant mom will have an increase in doctors appointments. That is to be expected but even more so with the additional health risks Jennifer faced. The appointments were numerous and she was never completely at ease during the pregnancy. Here is what she had to say about her situation personally, “I had monthly endocrinologist visits. I was considered high risk due to my diabetes and high blood pressure. I had prenatal appointments bi-weekly and then weekly toward the end. For the last few weeks, I would go in twice a week for ultrasounds and non-stress tests. It was difficult for me to enjoy the pregnancy for quite a while. I had so much anxiety about something going wrong after experiencing the miscarriages. I felt like it was too good to be true, and I shouldn’t jinx it. I thought the rug would be pulled out from under us at any point.” Who could not understand those sorts of feelings after all that Philip and Jennifer had experienced up unto this point?
All of the added anxiety and trips to the doctor had to be exhausting. With all that Jennifer would go through, her baby would hang in there and would continue to develop. The weeks passed without a major occurrence but it was around week thirty-four that Jennifer’s blood pressure started to rise. The specialist would increase Jennifer’s blood pressure medication and would also run some tests. The staff wanted to make sure that she wasn’t starting to develop pre-eclampsia. This condition is serious as it can be life threatening to the mother in rare cases. It would only be a couple of more weeks as Jennifer’s condition worsened and she started to develop pre-eclampsia. Giving birth is the only way to remove the expectant mother from harm's way and the doctors needed to act. This all took place on Tuesday, the 28th of March in 2017. They wanted to send Jennifer to Tacoma General Hospital to be induced and this was taking place while Philip was at work in Seattle. Jennifer had already been through so much and now this. She describes her reaction with the following, “I started crying then and there. She wasn’t supposed to be born for another 3-4 weeks. Her nursery wasn’t ready yet! I still had work to do! I called Philip at his office in Seattle and he headed straight down to Tacoma.”
After arriving at the hospital, the doctors started giving Jennifer drugs in order to induce labor. One that she mentioned was the drug named Pitocin. Once it was given, they waited and the waiting would continue.
This baby did not want to come out. The nurses noticed that as the amount of the drug was increased, the baby’s heart rate would slow down. As a result, the decision was made to stop with the medication for a time, wait, and then try again. Jennifer’s baby was not responding well to the medication and Jennifer herself, was exhausted. After evaluating the situation, the doctors decided that delivering the baby by cesarean section was necessary. For Jennifer’s part, she was all for it at that point. This was a big event for the entire family. Along with an anxious father-to-be, Jennifer’s parents were also there at the hospital. The consent forms were signed and Jennifer was wheeled away as mom and dad looked on. So much had taken place by the time that this couple had reached this point. Jennifer had never been completely at ease with the situation over the course of her pregnancy however, she was comforted by having Philip by her side at this time. Jennifer shared that she had faith that things would work out even though she felt anxious. She was under the assumption that that C-sections take place quickly but this didn’t seem to be the case. Jennifer waited eagerly to see her newborn baby and it seemed as though it was taking forever. It took so much to arrive at this point but the time had finally arrived for this little baby to make an entrance into this world.
Jennifer remembers the time that she would deliver her first-born child, up to the minute. It was 3:53 a.m. on Thursday, the 30th of March in 2017. Philip was by Jennifer’s side as the doctors pulled their baby out of mom and he would notice that the baby looked kind of grey and was not yet crying. The staff did not appear to look panicked and according to Philip they simply gave the newborn some “thumps.” The baby girl would then let out a cry and it would be the most beautiful sound that Jennifer had ever heard. Simply put, Jennifer describes the feeling, “That cry! It was beautiful!!! Tears came to my eyes as I realized I was officially a mother.” After all she and Philip had gone through to have this child, the feeling was one of pure elation. Jennifer had always seen in the movies that the mom was able to hold their child right away. Even after a C-section. That would not be the case as she would have to wait while the doctors stitched her up. Jennifer also felt that perhaps her baby had to be examined after the difficult labor and delivery. Philip was able to hold his baby girl after she had been cleaned up and Jennifer was able to do so after the doctor finished with her surgery.
This baby girl was perfect and she was perfectly beautiful. She weighed six pounds, eight ounces, and she was eighteen and a half inches long. She had the sweetest little face and she had her father’s dark hair. It was black and curly and she had a lot of it. This little girl was so incredibly special, for more reasons than one. They named her Amelia! Jennifer described the feelings that she felt over seeing her daughter for the first time with the following, “I was able to hold her after I was finished with surgery, falling into a deep, profound, life-altering love. She had the blackest curly hair and such beautiful, soft skin. Our baby was perfect.” As for Philip, his thoughts were of the responsibility that he had as a father and husband to the mom of his brand-new daughter. He was equally in love with Amelia as he thought about his new role. Here is what his thoughts were at the time, “The first time I held Amelia, I had the same thought I've had ever since: I hope I'm doing this right. That sense of uncertainty, the hope that I'm good enough to be her father has never really gone away. I remember wanting her and Jennifer to both be healthy.” He hoped that they had been through the most difficult of times as they now focused on being a family. Philip continued with the following, “The ‘hard’ part, I prayed, was over and I hoped we could focus on helping her learn and grow. I promised her I would be the best father I could be.” There are always challenges that come with raising a child into adulthood. Philip and Jennifer had gone through so much and they were ready for all of the normal challenges that parents face together while raising a child. There would be much more to their journey, however, than a person could see at this point.
It stands to reason that little Amelia would all at once gain the love and affection from the entire family. This was a great story in the making. Think about it. The oldest of three daughters has difficulty in becoming pregnant and in bearing a child. She had married a man that she had known since junior high school. They are not only man and wife but also friends for much of their young lives. They did things correctly and with purpose, both gaining an education. The missing piece to their life together was a child and they now had Amelia. She didn’t come to them easily but she was here. This child brought joy, not just to her parents but to the entire family because they knew what it took to bring her into this world. The family as a whole, was overjoyed for this couple and they loved little Amelia. For Philip and Jennifer, it was an experience that they had longed for. The first year of Amelia’s life would be pretty typical although there would be a bump or two in the road. Jennifer stated that her development was pretty normal in that first year. Amelia was social and happy, and she was observant. Amelia’s Aunt Jessica made note of several things. Amelia loved music and having books read to her. She also loved jumping and being in swings. Amelia “had the best giggle and a huge smile that was infectious.” Seeing these things made everyone happy for her, and for her mom and dad as well. It appeared, even at that point, that Amelia had a bright and promising future. She did have an issue with reflux but Amelia was otherwise a healthy little girl.
Another issue that developed at the time was a flat spot on the back of Amelia’s head. Her mom says that Amelia was a great sleeper and she rarely moved during her sleep. She loved sleeping on her back and hated “tummy time” with a passion. Amelia would develop a condition called brachycephaly. The condition happens simply because a baby’s head is still soft and moldable as an infant. For this, Amelia had to wear a helmet on her head for twenty-three hours a day over a nine-month period. She would handle this just fine and she would, of course, look very adorable in her pink helmet. At first, Jennifer would not handle things as well . She would carry some guilt over this and would say so with the following, “The funny thing was I cried and cried over her having to wear a helmet. How crazy is that? I felt like a failure, like I had somehow let her head become flat. In my mind I thought, “Only babies that are left on the floor and in bouncer chairs all day have flat heads!” This of course was not the case but Jennifer did carry some “mommy guilt” over the situation. Part of the process for correcting Amelia’s condition was to undergo physical therapy for positioning exercises. Amelia was in therapy starting at six months old and as such, another issue would be noticed by the therapists. It seemed at that time that Amelia had some delays in her gross motor skills. Amelia was not yet rolling from her back to her tummy and she was not able to push herself up using her arms and legs. Jennifer shared that in spite of this, Amelia was engaged and thriving. She was showing an average level of ability when it came to cognitive, social, and fine motor skills.
Jennifer made comment to me on all the things that were noticed by the entire family. This, concerning Amelia’s little personality and the things that she really enjoyed. Here is what Jennifer had to say about Amelia, “She babbled and laughed. And boy did she love books! We could read ten to fifteen books to her at a time and she would sit and absorb it all! She would get excited to see her favorite books ... ‘Five Little Monkeys Jumping on the Bed’ and ‘Brown Bear, Brown Bear’ were her favorites. She would laugh and squeal. Amelia was an observant baby and loved to watch her two older cousins playing together.” Everything was overall very good with little Amelia and the Palermos were enjoying being a family. It was the simple things that made up the good times that they were experiencing. They spent time swinging (Amelia loved the swing). They took walks together and they loved visiting their favorite nature preserve, Northwest Trek. This was a good time and they had no reason to believe anything but that Amelia would continue to thrive.
It was, however, shortly after Amelia’s first birthday that things started to change. Philip and Jennifer started to notice that things were a little different with Amelia than one might expect. Their concerns would soon be shared by family members as they continued to spend time together. Here is some of what Jennifer had to say about the types of things that were being noticed, “It was shortly after her first birthday that things began to change. One morning I asked my husband, ‘Do you notice that Amelia won't look at you when you're holding her up close?’ At first we thought it was just a funny quirk. We would pick her up and she would instantly look away. Then I started really thinking ... she wasn't waving, pointing, or engaging in social interactions as much as she used to. When we went to visit family, she didn't immediately smile at them like she typically would.” Think about all that this couple had been through up to this point. They had already been through so much and they had no idea concerning what the future would hold for them. There was more that Jennifer had noticed and it was all very concerning. Amelia had been using simple words such as “Mama” and “up” but then quit using them. She had even stopped babbling. Jennifer had gained a lot of experience working with kids with special needs. This included those with autism. The things that she had been seeing in her own daughter mirrored the characteristics that she had seen in children who were autistic. At the beginning, Jennifer would share her concerns with others, only to be told that she was overreacting. Jennifer would hear things such as, “All babies develop at their own rate”, but this mamma knew, something wasn’t right. After all, she had taught struggling students for fifteen years. Jennifer started researching about milestones to identify where Amelia should be at that point in time. It became obvious to her that Amelia was far behind where she should be at this point. In areas like communication, motor and social skills, Amelia was behind where she should be.
Again, think about what it took to bring this baby girl into the world. This was Jennifer’s Miracle baby and Amelia was one of the biggest parts of her world. This mom did what any responsible parent would do and that would include a trip to the doctor. Here is some of what Jennifer had to say about that visit, “I brought it up to our Primary Care Physician, handing her a list of my concerns. I couldn’t even read them out loud. I handed her the list and cried, while kissing Amelia’s little cheeks. At this point, she was referred to a developmental pediatrician at Mary Bridge Children's Hospital in Tacoma. My heart sank when I thought of Amelia having autism.” Jennifer had seen what was experienced by children with autism as she taught them at school. Autism spectrum disorder is a broad category that can describe people with many different skills and ability levels, but one of her main concerns was how Amelia would be able to relate to her peers. A label such as “odd” or different, to say the least, was a concern. What about making friendships and the other struggles that Amelia would face? This was all part of what ran through Jennifer’s mind at the time. Their first appointment with the developmental pediatrician would arrive in August of 2017. According to Jennifer, the doctor would agree that there were some “red flags” that pointed to autism as a diagnosis. The pediatrician wanted to do a follow-up in six months because Amelia was so young at the time. Philip and Jennifer wanted Amelia to receive a complete evaluation of her skills in order to determine what level she was at in all pertinent areas.
Much of that work would be done at Mary Bridge Hospital and some through an early intervention service provider. The results would be telling and of great concern. Amelia would be tested to determine what level she was at in her cognitive skills, social/emotional skills, fine motor, gross motor, and her adaptive skills. Amelia was fifteen months old at the time that the results of her evaluation were received. Jennifer describes what was determined and gives us what her reaction was with the following, “I was shocked and extremely terrified when I learned of the results. Amelia scored as a 6-9 month old child on the cognitive testing. Her fine motor skills and gross motor skills were slightly better at 9-12 months. Something was terribly, terribly wrong.” The findings concerning the delays in motor skills were expected by Philip and Jennifer but they did not expect what was determined about her level of cognitive function. I think that it is safe to say that, at this point, the entire family knew that they had a special set of circumstances with Amelia.
As I have mentioned and as one would expect, members of the family could see the changes that were taking place with this sweet little girl. They were concerned for both Amelia and her parents. The family had seen the symptoms of what appeared to be autism but also, things that were a part of the farthest end of the spectrum. Amelia’s aunt Joanne had this to say about the changes that she was seeing take place, “Amelia was alert and active before her diagnosis. It was like she was listening to things that we couldn’t hear … which I’ve read is something that autistic kids do. They hear or are listening for little noises that other people take for granted.” There was much time spent with Amelia’s grandparents from both sides of the family. One of those was her grandfather Jerry, better known as Pop Pop. He could see the decline that was taking place in his granddaughter and it was heartbreaking and of great concern. Here is some of what he was seeing, shared in his own words, “Around the time of her diagnosis, there were notable and pronounced delays in her verbal skills and motor skills (crawling and walking). And then the gradual but very noticeable regression of those skills. There was less engagement with her surroundings, and repetitive behaviors.” For Jennifer’s sister Jessica, the differences in Amelia were even more stark. This was because she would only see Amelia during visits to Washington, traveling from her home in California. Here is what she had to say about the changes, “Since I didn’t get to see Amelia in person very often, I noticed a couple things right away … her hand turning inward, her inability to grasp objects, and her lack of tracking objects.” Jerry’s wife, Kris, noticed that Amelia wasn’t meeting the milestones that were expected for someone Amelia’s age. She also was aware of the fact that Amelia was no longer using words that she had previously learned.
It was right after the first appointment that Amelia began to receive early intervention services through an agency called A Step Ahead in Pierce County. Amelia would receive services twice a week from a two-person team. One person was a special education teacher and one was an occupational therapist. Jennifer felt at this point that help had arrived and that gave her a somewhat positive feeling about things. It would be six months until Amelia’s situation was revisited at Mary Bridge and it was hoped that the in-home therapy would be helpful. That, in fact, was the case as she would learn how to crawl and then walk at the age of eighteen months. Philip and Jennifer were, of course, ecstatic to see their little girl take flight. That is always a special event for everyone and this family had waited for that day. Amelia had a wooden cart that she pushed around the house as she walked, but then she gained enough confidence to walk unassisted. It was no doubt that she enjoyed her walks as much as others enjoyed seeing them take place. Jennifer said that her walks were never “smooth and easy”. She went on to say that Amelia was wobbly and hesitant. Amelia could not walk from carpet to tile without stumbling but she gave it her very best effort. She was unable to stop and pick up “toys or objects of interest” and she wasn’t stable on uneven ground.
Jennifer would also share that Amelia would continue to decline socially. This would be heartbreaking to have happen as parents watched it take place and I am sure that was the case for Amelia’s mom and dad. Here is more of what Jennifer had observed, “She stopped smiling as much and it became really hard to make her laugh. We always said she was ‘hard to impress.’ She wouldn't respond to her name being called, but would sometimes respond if she heard a song she liked or if we recited a line from her favorite book.” The symptoms were becoming more severe but they still seemed to fall in line with those that an autistic child would display.
The next appointment with the developmental pediatrician would come but not before more would take place. Things that were of great concern to Philip and Jennifer. That appointment would come in February of 2019 and it was at that time that Amelia would be officially diagnosed as having autism. Earlier, in the later part of 2018, the couple would see some drastic changes in Amelia. In December, she had quit picking up toys and books, however, she would still handle her food and water cup. Jennifer was vigilant and took notice of every change that would take place. It was also prior to the appointment that Amelia would no longer sit up in the bathtub. She would only lay flat on her tummy with her chin barely above the water. Amelia would no longer sit up, play, and splash. In addition, Amelia would no longer push herself up from the floor into the standing position. It was as if she was in a state of decline, but why? Jennifer stated that there would be blood work drawn on Amelia. This, to see if there were genetic markers that would account for the autism diagnosis. The results would come back negative but the diagnosis would still be accepted. In response, Philip and Jennifer would consider seeking help from an ABA (Applied Behavior Analysis) therapist. They also joined an autism support group on Facebook.
It had been such a special event to see Amelia walking for the first time. Although not perfect at it, seeing her walk showed others her determination and each step was special. Special and adorable! However, whatever it was that had its grip on Amelia would soon impact her ability to walk. Almost a month after that second appointment, she began to struggle with her walking. Jennifer stated that she began to notice abnormalities in Amelia’s steps. She began to take shuffle steps and she would fall frequently. Then, with finality, Amelia’s mobility ended. Jennifer describes what happened with the following, “We were in the backyard one day and I took her hand to walk her to the door. She was stuck. Literally couldn't move. Even if we stood in front of her and held her hands, she could not take steps. On Friday, March 29, she took five wobbly steps across the living room. We cheered and praised her and thought all that was behind us. But no. She would never walk again after March 29, 2019. She turned two years old the next day.” How distressing it had to have been to see her regress in this most important area of her development.
Other things that were taking place around this time had to do with an apparent problem with Amelia’s vision. Jennifer stated that her daughter was over-reaching for items. As an example, she would try to pick up bites of food from her bowl but would miss them. They also noticed that she would look at objects out of the corner of her eyes but she would not look directly at things. Can you imagine what it would be like to be a parent and to see all of these things taking place with your daughter? All, while not knowing why it was happening. Amelia had a scheduled appointment with the pediatric opthamologist that was scheduled to take place a couple days before her birthday. The doctor felt that Amelia’s retinas were fine but he wasn’t sure about her optic nerves. Amelia’s crying and squirming made an examination difficult but the doctor observed that she didn’t respond well to stimuli like other kids. Even those who had been diagnosed with autism. He thought that what he was seeing was strange enough that it warranted an MRI. The doctor wanted to rule out the possibility of Amelia having something called Cortical Visual Impairment, or CVI.
Philip and Jennifer would receive excellent help throughout the course of time leading to a diagnosis. Let’s just pause for a minute in order to tell people about the level of care that the Palermo family received from the medical community in the state of Washington. Jennifer had nothing but good things to say about the people that make up the team that helped with Amelia’s care. Amelia’s pediatrician was very supportive from the start as Jennifer brought her their concerns. This was most helpful as Amelia would be referred quickly to Mary Bridge Children’s Hospital for an evaluation. I have personally heard nothing but good things about Mary Bridge and that would be supported by their actions on behalf of this family. According to Jennifer, the developmental pediatrician from Mary Bridge was quickly on top of everything that concerned Amelia. Blood work and genetic testing would happen quickly as they were referred in due time to the departments of neurology and genetics. The support of the medical community would only intensify with each new occurrence as the symptoms continued to appear. For example, getting neurology appointments can often take weeks to months, but one was given to this family right away as their situation would become more dire. Not only was this the case because of the severity of the situation but also because of the caring nature of those who were involved.
Jennifer knew as her daughter quit walking that something was terribly wrong. As a result, she was quick to contact the developmental pediatrician at Mary Bridge. It was decided that a metabolic panel would be performed on Amelia after the developmental pediatrician was contacted. The results of waiting would not be good as the testing revealed nothing. They also tested for muscle wasting and those results would be negative as well. The staff knew that these negative test results had revealed a deeper problem and they were very concerned. It was at that point that the idea of Amelia having Rett Syndrome, or some other neurological disorder, was brought up. It was suggested at this point that getting help from the Department of Genetics at Mary Bridge was necessary. It would be soon after that more would take place. Philip and Jennifer started to observe more changes in Amelia’s behavior. Jennifer said that what they were seeing looked as if Amelia thought that she was falling. She would jerk her hands up in the air as this would happen and they would see it happening a couple of times a week. Amelia was having seizures but they were not yet aware that was taking place. Then one night, as she had a slight fever, this started taking place one after another. Philip and Jennifer took Amelia to urgent care but they were unsure as to whether she was experiencing seizures. They would call Mary Bridge Developmental Pediatrics the next morning and this call would be of the greatest importance. So much had happened. Amelia had stopped walking, talking and interacting with others. Now, it was possible that she was having seizures. Jennifer stated that it was this call that set everything that would follow into motion.
Originally, an appointment with the neurology department had been set for August but that would be pushed up as a result of the possible seizures. Jennifer stated that it would be two days after the urgent care visit that Amelia would be seen by a neurologist. Doctor Phillips from Mary Bridge Children’s Neurology took one look at the videos that Philip had taken with his phone and he knew, Amelia was having myoclonic seizures. An EEG was done two days later and it confirmed the seizure activity. Amelia was prescribed Keppra and the family would meet with the genetics team later that week. It was at that appointment that Amelia’s entire story was discussed in detail with Dr. Yuen, the geneticist. The decision was made to do a blood draw for genetic testing used for epilepsy. The Palermos had to wait three weeks for the results of the testing and that is the point at which they would receive a phone call. Jennifer shares the details surrounding the call with the following, “It was May 21 … I remember very clearly that we were making dinner, kind of in a frenzy to get dinner made and Amelia fed. The genetic counselor told us that they had discovered two mutations; one pathogenic and one of ‘unknown significance.’ Her words were, ‘This is not good. We are very concerned.’ I said ‘Okay….’ immediately having images of Amelia as a teenager in a wheelchair, non-responsive. She said they were concerned that it might be something called Neuronal Ceroid Lipofuscinosis. She couldn’t even pronounce it. She said it is also known as Batten disease, but more testing would need to be done to confirm it.”
Just as is usually the case, neither Philip nor Jennifer had ever heard of Batten disease. The impact of the disease on the health of a child is difficult to consider. For a parent, it is horrifying to learn that such a thing exists. Vision loss, seizures, dementia, and early death. The couple was advised to not research the disease but how could they not? Every parent would. Jennifer describes their thoughts and feelings as they read the details, “Our miracle baby was dying and there was nothing we could do about it.” Jennifer would go on to talk about all they would miss out on because of what they expected would be the diagnosis. She would then continue, “She wouldn’t grow up, have her own children, experience life as an independent woman. We tried to tell ourselves that it wasn't official (we would go in for more blood work the next day), but we knew deep in our hearts. The symptoms matched perfectly with what was happening to our little girl.” And yet, there was this waiting period in which they lived in uncertainty over what they felt had to be true. Jennifer described that period of time as “pure hell” for them. By their side during this time was much of their family. Philip’s mom and dad, both of Jennifer’s parents, and extended family and friends were a huge source of support during this time. Jennifer’s sister Jessica was so concerned that she flew up from California with her daughter in order to be with her sister at this time.
News Beyond Belief
Her sister, a nurse that at one time had worked at Mary Bridge, had never heard of Batten disease either. To learn that her little niece, in all likelihood, had this dreadful disease that she too was just learning about was heartbreaking to her. What can you possibly do to bring comfort at a time like this, with the shock and disbelief? Just being there is perhaps, all that one can do. Jennifer described her state of being to me with this, “I remember noticing that tears were streaming down my face one day and I hadn’t even realized I was crying. I didn’t think it’s possible to cry any more tears.” What do you do when you believe that your daughter is dying? In Philip and Jennifer’s case, they started taking even more photos and videos of Amelia. As an example, Jennifer recorded a ten minute video of Amelia during breakfast. This because she didn’t want to ever forget what a normal breakfast routine with little Amelia was like. In her words, “I am so afraid that I will forget and lose the memories, not having anything to grasp onto.” Before and after a diagnosis was confirmed, and even up to this day, videos were taken of Amelia so that they can capture everything, both good and bad.
It would be in the first week of June in 2019 that a huge part of Philip and Jennifer’s world would collapse. June the 5th was the day that Amelia was scheduled to have an MRI done on her brain. For those not yet aware, this is commonly done on children when there is a neuro-degenerative condition, like Batten disease, that is suspected. Jennifer stated that they would actually learn of the diagnosis before they were supposed to. This happened as they waited in the hospital cafeteria as Amelia’s MRI was being completed. Waiting with Philip and Jennifer was Jennifer’s mom, Kris. As they waited, Jennifer heard an alert for her MyChart application go off on her phone. It was news concerning the results of Amelia’s genetic test. Apparently, the genetics team was supposed to receive this info first and then they were to give the results to the family the following day. In a weird twist of events, the results were revealed at this time. Like the rest of us who are laymen to medical jargon, Jennifer scanned the report to make sense of it. She was able to see with clarity the fact that Amelia’s enzyme levels were low, very low. With the following, Jennifer so eloquently describes what they read with their eyes as their hearts began to break, “With a pounding heart and tears beginning to drop, I turned my phone to Philip so he could see what I was reacting to. 'PPT1 enzyme activity was reduced in blood spots and white blood cells. This supports a defect in the CLN1 gene as a cause for neuronal ceroid lipofuscinosis.'”
It would be on the following day, June the 6th of 2019, that Amelia’s parents met with the genetics team. It was on that day that they would be told officially that their little girl had CLN1 Batten disease. Tears had been shed but there would be more as they continued to come to terms with what was being dealt with. The report for the MRI was not to be ready for a week or two and they would normally have had to wait. As an example of the kindness that this family received from their doctors, Amelia’s neurologist, Doctor Phillips, met with them the same day. He would go over in detail, the results of the MRI. Philip and Jennifer were able to look at the images and see what had been taking place in Amelia’s brain. This time, I am sharing comments from Amelia’s father Philip concerning what that day brought. This, as it ended by viewing the results of the MRI. Here is what he shared, “I recall thinking that the diagnosis confirmation would be the toughest part of the day, and that the MRI discussion later wouldn't hit us as hard. But then we saw the images. We saw the unmistakable black voids, areas where brain matter should be. I thought the scans would just serve as a visual confirmation for a diagnosis we already knew about. But I wasn't at all prepared for how soul-crushing those images were. Our daughter's mind was fighting itself.” The word heartbroken could not fully describe what they had been feeling as they digested all of the information. Whereas Philip and Jennifer once thought that Amelia had something that could be dealt with over the course of her lifetime, they now knew differently. They knew that they would be entering a battle. A battle against time and one in which they would have to fight for Amelia! Batten disease is such a monster.
It’s was very good thing that Philip and Jennifer were not alone as they received the official diagnosis for Amelia. Both of Jennifer’s parents, Jerry and Kris, were present that day at Mary Bridge. They cried with Philip and Jennifer as they held the couple during this difficult time. Jerry and Kris were broken alongside them as what the Palermos already suspected had been confirmed. Philip’s parents and sisters, Althea and Joanne, were equally affected by what they heard as the findings were discussed with them that evening at Philip and Jennifer’s house. Then there were the three sisters. They cried together over the news. Julia had come to the house from close by just to be with Jennifer and Jessica was present via FaceTime. Three sisters sharing an experience that no one would want to face alone. This is the type of family that experiences life together. They enjoy the good times together and support one another in times of need. As things would progress in the journey that is Batten, everyone in this family would be there to lend a hand. It might be during trips to the ER when Amelia was suffering from uncontrolled seizures. Or, it could be providing meals when Philip and Jennifer were just too tired to cook. This family would do whatever it takes to lend a hand. It was rally time and they would rally around Amelia and her parents.
Together, this family had been deeply affected by what had taken place. Jennifer’s sister Julia had been present much of the time as she lived in nearby Graham, Washington. She had witnessed the changes in Amelia and they had been very disheartening to her. For her, the changes were startling and all too real. Here is what she had to say concerning what led up to the diagnosis, “I remember her being a happy, wiggly, babbly baby, giving kisses and clapping her hands. I remember her love for books and songs. I remember her learning to say a word, then losing it, not making eye contact, losing the babbling and having a hard time with fine motor skills.” Julia had seen the effects of what they now know to be Batten disease and its impact on the entire family was real. For sister Jessica, the news was like a “dagger” to her heart. In her years as a nurse, she had worked with children that had chronic and life-limiting conditions. She never knew, during those times, that something like that would hit so close to home. Grandpa Jerry, Pop Pop, was heartbroken and devastated. His “amazing and beautiful” little granddaughter had a rare disease for which there was no cure. Just as it was with Amelia’s Grandpa’s, so too Grammie Kris and Grandma Esther were “shattered” and “heartbroken.”
I’ve said the following often in my writing and it’s worth repeating here. A child’s life should be about laughter and innocent fun as life’s lessons are learned. Am I wrong? And yet, we know that children often get exposed to tragic occurrences. There is often pain associated with living in this world. I think that Jennifer would agree with my point as she says as much when talking about her niece and nephew. Here is what she had to say, “One of the hardest things was to listen to my niece and nephew process this information once the diagnosis was official. My niece, Allison, cried and told my sister that it wasn’t fair and that she ‘wishes Amelia could grow up to be an old lady.’ Allison has told me on multiple occasions that when she sees a shooting star, she always wishes that they will find a cure for Amelia’s disease. And she said if that didn’t work, she would ask Santa for a cure. Little Jakob will often ask if Amelia ‘still has a disease in her brain.’ This is not what children are supposed to be worrying about. It breaks my heart to hear them struggle to make sense of this.” Everyone is in this together, including the little ones. It’s no doubt that these children will be wise beyond their years. It is difficult to talk about and digest the way that Batten has progressed in Amelia as she has battled. It was June of last year when Amelia was diagnosed and much had changed in her before the diagnosis was official. That is just a little over six months as this is being written.
Determined to Fight
Jennifer stated that Amelia is no longer able to feed herself. She eats only pureed foods and she drinks out of a bottle. No more finger food or holding a sippy cup. She is no longer able to crawl, stand, or sit on her own even with assistance. It’s becoming more difficult for her to hold her head up. It all just seems so cruel to watch your child regress in this way. Jennifer stated that Amelia hasn’t laughed in months. The seizures that were at one time well controlled, are no longer held at bay. Now, on average, Amelia has 30 to 45 seizures a day (sometimes more) even while on medication and CBD oil. She is easily agitated and frustrated. This must leave those who love her feeling saddened by their inability to help. Jennifer describes what a child’s life is normally like in comparison to the challenges that they are facing, “Most parents see their child’s eyes light up daily, see their child smile hundreds of times a day. They get to hear their giggles so many times that they take it for granted. We do not. We take nothing for granted. When Amelia smiles, we make a huge deal about it. We scramble to get to a camera. We cheer and clap and talk in squeaky, annoyingly high-pitched voices to try to make her smile just one more time. But she's very different, even from just a couple of months ago. It frightens us how fast things are changing.” There are still, however, things that make Amelia happy and that in return, bring joy to those around her. This is another inspiring story of love and determination. In almost all of the stories that I have done, shock and dismay over a diagnosis such as Batten gives way to the resolve needed to help a child fight the disease. It most often begins with the parents educating themselves. Parents with children that battle Batten are often times the most educated on their child’s condition. This would become the case with Philip and Jennifer as they went in “full research mode”. A parent is often told, when their child is diagnosed, to take that child home and make the remainder of their life as amazing as possible. They are told to make memories. I think that it is so commendable when parents decide to fight back against the disease.
This type of a fight begins with knowledge and that is how the Palermos would begin this battle. With the following, Jennifer describes what her and Philip found as they started to do research on their child’s condition, “There was nothing out there that said ‘Your child has Batten disease … these are the medications and supplements you should be using.’ I found countless articles, some easier to read than others. Some were written years ago and some were more recent. But nothing was staring us right in the face saying, 'This is the answer!’” Jennifer started by making a list of possible medications to try. She researched articles and sent all of this information to the neurologist and the geneticists. They would continue, willingly, to receive the information, never once turning Jennifer away. She would post questions on the BDSRA and CLN1 Facebook pages and would submit any useful information that she received back to Amelia’s doctors. In response, they would generally be open to trying anything that might possibly help. This is one of the ways in which social media is positive and very helpful. It was a tool at Jennifer’s disposal. Speaking of Batten groups on Facebook and the Batten Disease Support and Research Association (BDSRA), Jennifer has found an amazing amount of support within the Batten community. She in turn helps to spread awareness through sharing about their own story. Amelia is their source of inspiration to fight on. They see her determination for this fight and they are determined to fight as well. Jennifer describes what she sees in Amelia and how it helps them to press on, “Our little girl is a fierce fighter. She is strong and determined, and because of her, we have strength to fight too.”
What do you do when you are dealing with a situation that is outside of that which is normal? You search for things that work, things that are enjoyed, and things that are helpful. That is what Philip and Jennifer have done. They have found things that work with their daughter. Amelia loves to stand but she is not able to do so on her own. So, the Palermos purchased a standing frame to place in their living room, hoping that Amelia would love it. Well, perhaps that is something to work on but at this point she does not like standing in it. This precious little person wants to be held and what Amelia wants, Amelia gets. Jennifer again explains with this, “She wants to stand, but hates the harness. She basically wants us to hold her up under the armpits while she stands up, collapses down, stands up again, goes down, over and over again. It is very tiring, but makes her so happy! This is when we see a lot of smiles. I think she feels proud to stand.” I had seen pictures of Amelia sitting on a floatation device in a pool or tub and, of course, the pictures were adorable. I did not, however, know the significance of the photos. It seems that Amelia loves floating in the water. It helps her muscles and she is so relaxed while floating. It was back in July of last year that Amelia’s parents purchased an inflatable spa which they keep heated to a temp of about 99-100 degrees.
Amelia loves her time in the spa and family members love being in the spa with her. It is during this time that she is so responsive and she brings so much joy to others during the time spent in the spa. The float that was found for Amelia keeps her head above the water as she tries to reach her toes to the bottom of the pool. She loves to float from one side to the other and having the jets turned on will bring a smile to her face. Philip and Jennifer have hung twinkling light up around the spa as well and Amelia appears to love that. Anything for Amelia's happiness! Jennifer stated that Amelia continues to love music. Because she can no longer see clearly, she can no longer watch her favorite songs on YouTube. She use to light up and bounce up and down as her favorite Super Simple Songs were turned on for her. She would smile and giggle but this no longer takes place. She still, however, loves and responds to music. Philip and Jennifer play music constantly for Amelia. Children’s songs, classical, relaxing instrumental, and holiday music (at Christmas) can be heard throughout the day. Amelia even loves the hits of the '80s and '90s. This pleases her parents! And still, there are many challenges. Amelia no longer responds as her cousins play around her. In fact, she becomes overwhelmed by having too much activity taking place around her. She is, no doubt, a particular kind of princess but she is so worth every bit of adjustment that people make for her.
As one may have determined, Amelia’s medical team has been “top notch” throughout this journey. Her medical team has continued to grow as her needs have increased. With each new specialist added, her team has remained “compassionate, professional, and supportive.” I’ll use Jennifer’s list of doctors to show the reader just how many people there are that make up her team. Here is how she listed them, “Amelia’s team now includes: her primary care provider, developmental pediatrician, neurologist, gastroenterologist, geneticist, ophthalmologist, occupational therapist, physical therapist, special education teacher, vision specialist, palliative care team, audiologist, orthotist, and a nutritionist and physiatrist are soon to be added to that list.” Not mentioned but something that should be obvious is the amount of time that it takes to attend all of these appointments. I would hope that many of them are scheduled to be attended during a single visit. This Batten mamma is one busy lady! Jennifer stated that they also receive support from the Complex Care team at Mary Bridge Children’s Hospital. Their goal is to “provide support, education, and to guide families through the journey of a life-limiting or life-threatening diagnosis.”
Looking back on things, Philip and Jennifer talked about how they handled each different diagnosis. If only they were still dealing with someone who had been dealt the hand that is autism. Jennifer said this about receiving the news about Batten, “When it was confirmed that she had CLN1, it was like our hearts were broken into a million pieces. We knew there was no treatment. How cruel and unfair. It’s crazy how your worries and perspectives change depending on the circumstances you’re facing. I think back to the times I would cry thinking about Amelia having to wear a helmet for her misshapen head. How ridiculous! Get over it, Jennifer! It’s only a drop in the bucket of her whole life! Then I remember how badly I wished she would suddenly meet her milestones and avoid an autism diagnosis.” The possibility of Rett Syndrome brought with it an increase in anxiety but even that would have been better than the eventual outcome. Many parents who learn of a possible Batten diagnosis also learn of a treatment that exists for kids that have the CLN2 variant. Having that diagnosis would have provided a tiny bit of a silver lining but it was not to be. Jennifer stated that with CLN1 being the final outcome that it seemed they had “been handed the worst possible card.” She also said that their perspective had changed with each possible diagnosis. With the following, Philip talked about how for them, there was a solution for each problem that would arise along the way, “With each developmental struggle, whether it was the growth of her skull or delays in speech, I tried to keep things positive, at least internally. Each concern had a solution, or a treatment, or a method we could use to allow her to grow as 'normally' as possible. There were helmets for her skull, and specialists for her motor skills. Even when autism was becoming more likely as factor, I was comforted knowing plenty of people all along the spectrum grow up and live happy, healthy, loving lives.” For the final diagnosis of Batten disease, things were then different. Philip stated that they knew that Batten was not just another “obstacle to work around.”
Fighting for Amelia
It is completely understandable that a person would be encouraged by any bit of hope that may exist when it comes to something like Batten disease. There are people that have been working on research and possible clinical trials. Philip and Jennifer were given that bit of hope as they were informed about the possibility of a trial coming along in the near future. Here is some of what Jennifer had to say concerning the trial, “It gave Philip and me a goal and a purpose … get her into this trial, as it is our only hope. We spoke with a representative from the company and at that time, they said they were hoping to begin the trial in ‘the fall.’ We filled out release forms, were added to the contact list, and joined in the natural history study being conducted. Unfortunately, nothing has happened in regards to the trial. We, and so many other CLN1 parents, are constantly on the edge of our seats waiting to hear about the gene therapy trial.” Jennifer went on to say that there are companies working on gene therapy, enzyme-replacement therapy, and something called small-molecule therapy, but none of them are moving along fast enough. For Amelia’s sake, they can’t afford to wait and so, Philip and Jennifer are hoping and praying for a trial to start soon. They are doing everything that they can to keep Amelia as healthy as possible and to help her thrive. Philip describes his and Jennifer’s attitude and talks about his promise to Amelia with this, “Amelia is still fighting and we won't give up either. I promised her I would be the best father I could be and it's a promise I intend to keep.” Philip is, no doubt, another great Batten daddy! I have heard of new clinical trials that are on the horizon for CLN1, CLN2, and CLN8. I am praying that these all begin soon, in 2020.
It is difficult to fathom something such as what this couple is going through. Jennifer describes it as like being trapped in something that is unreal, “Amelia’s diagnosis is like being caught in a nightmare I can’t wake up from. For the first month, I would cry myself to sleep and wake up in the morning with tears in my eyes. I would try my best during the day to stay cheerful and present so that I could be the best mom I could for Amelia. But, sometimes you just break.” I know that this mom, and father, are broken over the experience but they go on each day for Amelia’s sake. There have been certain thoughts that have run through my head as I was writing this story and I am sure that they would be shared by others. It may be rare with couples but it does happen. Some decide from the beginning that they do not want a family. They want a relationship with each other only and they are driven by their goals for a career. That is perfectly fine. Philip and Jennifer wanted to do things right and establish themselves in their chosen careers. This, so that they could better provide for a family and they were both successful in doing so. Some couples do have problems with getting pregnant but then through the methods used by the by Palermos, they do conceive. In my brother and sister-in-law’s case, they had triplets. Philip and Jennifer faced challenges in just getting pregnant. The miscarriages and then the difficulties with in-vitro fertilization. They went through more than most but then, they had Amelia. She was their little miracle baby. Batten disease is rare because both parents have to be carriers of the same defective gene. This couple was made for each other and yet they were given this challenge. It is hard to wrap your head around the circumstances as it is difficult to believe that such a thing would be possible.
The heartbreak that is connected with Batten disease should be obvious. To read comments from a Batten mom or to sit and listen is something that can stir one’s emotions. It can make a person want to possess extreme empathy. This has happened to me on countless occasions and doing this story was no exception. Reading the following is yet another example of what I am talking about. Here is more from Jennifer, “I couldn’t believe that after trying for so long, we were going to lose our baby after such a short time together. I still can’t believe that. How is that fair? And why is this happening to our girl? We have no other children … she is our only baby. Our miracle baby. Why her?”
I feel so naive and unqualified to answer these questions. I am not a trained theologian. I don’t have a degree in philosophy, or anything for that matter. Sometimes, the best you can do is to stand by a person’s side or to try to feel what they are feeling from a distance. I can know what it is like to have a child with special needs but my experience ends there. I do know that I hold those who battle Batten in the highest regard. The anticipation of the probable is the hardest part. I’ve been told that the grief starts from the beginning and it never completely goes away.
Jennifer talks about what she anticipates and it is all too real. Here is more of what she had to say, “Night time is the hardest. It’s just too quiet and I ask myself, ‘Is this what it’s going to be like?’ Empty and quiet? What is my purpose without my daughter? When I think of losing Amelia, I can’t even breathe. Just writing this, my heart races, my chest feels tight, and the tears start coming.” With reading this, the tears did start to flow. I so want the clinical trial to start soon and I want Amelia to meet all of the requirements. I hope and I pray that this takes place. But if it doesn’t, Philip and Jennifer’s life will always have purpose and Amelia will always be part of what makes them who they are. The experience of being Amelia’s parents will always be impactful to them, and to those who they come in contact with. Amelia, as are all of these children with Batten, is a fighter. They are so resilient and they just steal your heart, never to give it back. I think about Philip and Jennifer and their chosen career fields. One with a background in journalism and one as a school teacher. Not just any kind of school teacher but one who teaches kids with special needs. How will the experience of being Amelia’s mom impact the way that she handles these special ones? As a couple, will they be more sensitive to those who are suffering hardship? I am looking for a silver lining here but perhaps one does not exist.
I am an outsider doing my best to understand. One thing that I can understand, in large part, is the love that they both have for Amelia. As a couple, they see their daughter battling Batten and they so want to help in every way that they can. Philip as an example, still looks for solutions when it comes to enhancing the quality of his daughter’s life. He knows that time is a precious commodity when it comes to Amelia. He thinks about that when it comes to making as much of his time available as he can for his daughter. She is so precious. Just look at her! Jennifer’s love for Amelia is such that words are not adequate for describing it. Jennifer says that Amelia is “her world and her heart.” Although the things once envisioned are not possible, there are many sweet and wonderful times together. Amelia may not be able to climb into her mom and dad’s bed to snuggle, but she can be brought there to experience the immense amount of love that is felt. She can still be read to and she can dance as she is held in the arms of her mom or dad. That paints an amazing image of love as I envision it. One thing is for certain. Each day with this princess is special, even with the challenges that she brings. Life is not what they expected but Philip and Jennifer will make the most of every day. Jennifer talks a little bit more about the experience with the following, “Our life is different than we had hoped, but we intend on making the very most of every moment we have with Amelia. We are honored to be her parents. She brings so much joy to my heart and to those that love her. I pray every day that she knows and feels just how much she is loved.” I just bet that she does!
Every story has a conclusion although Amelia’s story will continue for some time to come. I am so glad that Philip and Jennifer have the support of such an amazing family. Amelia is loved by all and her life is worth more than could ever be counted. She is priceless and I am so glad that so many are working on her behalf. She is worth every bit of time that she is given and every bit of effort that it takes. Amelia, your life is a miracle and you are every bit as beautiful as the sound of your name. You are precious and so worth fighting for. Keep battling princess.
Blogger and advocate
“That day, I finally got my closure. I finally got the opportunity to mourn, to die and to be born again, to hit the ground and to feel everything I needed to feel. I didn't even know what I was feeling in all that period of time before the diagnoses because I was so focused on finding the answers and helping her. After the diagnosis, I had the opportunity to process everything I needed to process and it was hard. It still is.”
I have a son who was born with special needs. Seizures, developmental delays, and autism are all part of his condition, but what he has is not necessarily terminal in nature. We could see almost from the very beginning that he was not meeting his milestones and we knew why that was. Our son Benjamin was genetically predisposed to this condition because there were others like him in our family history. We were young and never considered the fact that such an occurrence would be possible. This, even if we should have known better. Do we have any regrets? No, not at all. We have three sons and we love each one of them. The bond that we have with Benjamin is extremely close. For me, this son with special needs is part of my identity and part of who I am as a person. Benjamin is the most valued and honored member of our household.
When you have a child with special needs, the bond that is felt is most often very strong. I believe that the constant care required to help someone who can’t perform the basic functions for independent living does something. It creates a bond between the parent and the person with special needs that is incredibly strong. It is a bond that can never be broken. Not even in the case of one’s passing. If anything, losing someone with whom you have that strong of a bond creates a void that is painful to experience. The time spent together, the feelings that are created, the memories that are formed, all serve to create this incredible bond. Many times in my writing, I have used my own experience to try to relate to someone who cares for a child with an incurable and terminal disease. A disease like Batten. I am always careful to go on to say that the things that are faced by people in the Batten community are so much more difficult than anything that we have experienced. The more that I learn, the more I realize how true this is. That is why the love and respect that this writer has for people in the Batten community, and other rare disease communities, is off the chart strong.
A Mother’s Love
There are some really great fathers out there, that is for sure. Many times though, I have made the statement that there is no love like a mother’s love. I have also said that there is no love like that which exists between a mother and her daughter. Yes, for sure, the love between a mother and her sons is special, but there is an understanding and a strong bond that comes from being of the same gender. Many moms are best friends with their daughters for life. Think about how a bond is created between a mother and her child while that baby is carried in the womb. To know that life is inside of you, growing and developing. You are glad to feel the kicking and all the movement because you know that helps to indicate that things are well with the baby. Each kick and squirm is a reminder that there is a human life inside and that life will soon be your responsibility. A mom waits in nervous expectation, especially if she is new to the experience. The day arrives and with it comes the event that has been anticipated. Time in labor was the most difficult thing ever experienced, but it brought with it memories that could never be forgotten. It brings with it a baby that is your very own.
The event seems overwhelming, but then, it is finished and you are handed that little person that you have waited to hold for so many days. You have a daughter and she seems so perfect. In fact, she is perfectly beautiful. Even from the beginning, you think about what the future may hold for that little person that you are responsible for raising. You are nervous and excited all at the same time. The days spent together accumulate and the love for your child grows as each day passes. You are a girl and you love doing girl things. Now, you have a little girl that you plan on spending your life with,and you think about future events that might take place. Often times, a mom will not only have a daughter, but she will also have a daughter that develops into a beautiful friend. They become inseparable and the bond deepens. A child’s life should be care free. Their days should be filled with innocent fun as life’s lessons are taught early on. All of this stands in jeopardy when the symptoms of a childhood disease starts to develop. The joy that was being experienced gives way to panic and concern. Especially when you don’t know what you are dealing with.
That is what happens for a mom when the journey with Batten, or another rare disease, begins in a child. Sometimes, the road to a diagnosis is long and difficult as symptoms, like loss of vision, occur gradually over time. Other times, there are events like seizures that take place one after another, each and every day. Life is difficult and the concern for your child and the things experienced deepen your feelings. This helpless child is reaching out to you and it hurts to see things develop that are out of your control. Undying love and a bond that is impossible to break. That is what takes place as a result. Utter heartbreak is experienced as the diagnosis is found, but then, determination takes over even as the heartbreak remains. All of this, while mourning over what the future may hold. The experience changes a person. These kids have the power to change people. Even those who are not members of their family. For the parents, life becomes something that is much different than what they expected it to be like. Much of this was to be the case in Sara Bajlo’s life and experience.
A Girl’s Dreams
Sara Bajlo grew up in the country of Croatia. I have heard about the beauty of that country from others although I have not witnessed it first hand. It only takes a simple search on the internet to find out about the history of the country and to see examples of its beauty. It really is beautiful to behold and it is steeped in a rich history. The culture there testifies to this as does the architecture and surroundings. In her youth, Sara was ambitious. She had things that she wanted out of life and Sara had goals that included a family. First though, she wanted an education. She had grown up in the city of Split and then the capital city which is named Zagreb. Sara was attending college and had no idea concerning the challenges that lay ahead for her. Her goal was to complete her education and that she would do, but not without first going over a little bump in the road. Sara had been dating the man that would become her first husband. They had been dating since high school and it was on their second year of college that Sara became pregnant. She was going to have a baby! They were a young couple and they were both scared and excited about what the future held for them as parents. This was a lot of responsibility for people that were so young and yet, they were excited. Sara was going to be a mom and together, they would be a family.
Going to school while preparing to have a child was difficult but Sara was determined to keep going. She worked hard at completing all of her exams as her second year of college was coming to a close. The due date for her baby was September the 8th of 2009. This would be at the beginning of Sara’s Junior year, but she was determined to keep up with her studies. This, even as motherhood was on the horizon. Sara’s pregnancy would go well. The life within her would grow and remain healthy as things stayed right on schedule. This would change a little, however, as the baby’s due date arrived. It was one week after the baby’s due date that the doctors decided that Sara needed to be in the hospital where she could be watched. The physicians could tell that she had a big baby on the way, and they wanted her to be monitored closely. It was Thursday night, September the 17th, that doctors felt it was time to start inducing labor. This baby would not have an easy go of making an entrance into this world. Sara went through labor for twelve hours without dilating even a small amount. The doctors dealt with Sara’s situation by using medication several times to help speed up the delivery. For Sara, it was exhausting but so rewarding.
It was on September the 19th of 2009 that little Gabriela was born. Sara’s baby girl made her entrance into this world at 1:25 a.m. at Sisters of Charity hospital in Zagreb, Croatia. Little Gabi, as she soon would come to be known, had to work so hard to make her way into her mother’s arms. Sara recalls that her baby girl was purple in color, but that she was so perfect. Gabi was perfectly beautiful. She had all of her fingers and toes and she was covered in brand new baby skin. Sara could not take her eyes off of her baby girl as Gabi got used to her new surroundings. The bond that had begun as Sara carried Gabi for all of those months only intensified as she watched her baby’s every movement. She would tell me that she felt so much love at that time. It was a kind of love that she had never felt before. Sara was so happy and yet scared at the same time. She now had the new responsibility of being a mother to this child. A mother to this little human being that she felt so much love for. Sara would tell me that what she was feeling concerning this new responsibility was terrifying to her. Still, she was willing to accept whatever might come her way in order to spend her life with this precious child. Motherhood was a challenge that Sara would accept.
A Mother’s Pride and Joy
There were things that lay ahead that no one would expect to come Sara’s way. All she knew at this time in her life was that she loved this little person that was her very own. Sara would watch with much Joy and pride as Gabi grew and developed as any little girl would. She was such a beautiful little person, just as one would expect. Gabi would continue to grow and achieve her milestones in the normal way. She walked by age thirteen months, and she was walking all by herself, without falling. Gabi loved being out in the fresh air at the local park which was near her neighborhood. This was in fact, where she took her first steps. She would learn so much while being in this place which was her most favorite. Gabi would continue to grow up, spending a lot of time in this park with her mother by her side. She would make friendships with other little people her age. Innocent childhood fun and wonder is what was experienced. Everything was just as it should be for a little girl like Gabi. Sara was so proud of her little Girl. A new mom with her first child. A daughter, someone that she could relate to and help mold into a little lady. Gabi started to speak early. She was around ten months old when she first started to call Sara Mama. Her daddy she called Tata, which means dad in Croation. Gabi was fast at learning new skills and she was on the go as a toddler. Her speaking skills came quickly and Sara had no reason to doubt that Gabi would continue to excel in her development. Sara shared a little of what she was seeing with the following, “She was speaking in sentences right after her first birthday and I remember the first one. It was simply, ‘I am eating egg’. I would never ever have considered that something would go very wrong in the near future.” Sara would soon face one of the greatest challenges that can be known as a parent. At this time though, she had no idea what lay ahead for her and little Gabi.
Innocent childhood fun is always combined with learning, and it would soon be time for Gabi to start attending kindergarten. Sara had continued to attend school in order to attain her degree, and she was able to do this while being a mom. The first three years of Gabi’s life were a time in which Sara adjusted to her new role as a mother, and the bond between her and Gabi had become a very beautiful thing. A mom and her daughter. It was at three years of age that Gabi would start to attend kindergarten. This would be something that she looked forward to, but it would not come without there being complications. This was Sara’s first child and knowing what to expect didn’t always come easy. Some issues with little Gabi would come along, one of which was occasional crying spells. She also developed problems with sleeping and sometimes, Gabi would be up all night. Not knowing any different at that time, Sara was confident that this was just a normal phase of development. Her concerns however, would continue to grow. It was a stressful time for Sara. She and her first husband were going through a divorce and the situation required a move to a different apartment. This would all take place about six months after Gabi started to have issues with her mood and sleep patterns. Perhaps the stress of the situation was being transferred to Gabi as the symptoms were getting worse. Sara was very concerned about Gabi at this point and she decided that it would be a good idea to take her to a child psychotherapist. Perhaps the stress over these life changes were just too much Gabi. The outcome would be that Sara’s suspicions were confirmed. The therapist felt that the things taking place with Gabi were the result of emotional trauma related to her parents divorce.
There was, however, more going on with Gabi than was first thought. Much more, and things would begin to go terribly wrong! It was at four years of age that Sara noticed that Gabi was starting to stagnate in terms of her development. Here is some of what Sara was noticing. In her own words, “She was (at the beginning) ahead of her peers. Now, she was verbally around her peers, even a little slower then they were. Her fine motor skills were worse then they were in others her age. I was concerned but everyone else thought I was just exaggerating.” Moms seem to know their children like no one else. While we are all preoccupied with other things, moms watch and pay attention. Sara knew that all was not well. She would go on to say that Gabi was shutting down and forgetting things. For example, she would go to the bathroom and then forget where she needed to go after that. Gabi often seemed nervous and she was continuing to cry a lot. Things were not right with this sweet little girl and that would break any mother’s heart. It would be difficult to focus on the other aspects of one’s life with this type of thing going on. Her kindergarten teachers were worried as well. Gabi was becoming clumsy and she was falling for reasons that could not be explained. One episode in particular caused Sara to make an appointment to have Gabi seen by a pediatric neurologist. It happened that Gabi had fallen to the ground. She was shaking and had lost all control of herself. This was a huge scare for Sara and she needed answers.
Searching for Answers
It was at the first neurology appointment that much would be revealed. Gabi had been having myoclonic and absence seizures but they had been going unnoticed. This, because Sara saw epileptics as having grand mal seizures only. Perhaps that is what had happened during the episode seen at school. The EEG was telling. Gabi’s was a firestorm of activity, but the doctor would feel that she had simple epilepsy. So it was on April the 17th of 2014 that Gabi received that diagnosis. She was given medication to control the seizures, and the doctor comforted Sara by saying that this could all be over with by puberty. Nothing, however, could have been further from the truth. And still, Sara was able to leave the doctor that day with a feeling that the situation would be handled. After all, people can live with epilepsy. It was the case, however, that the frequency of Gabi’s seizures got worse. They became much worse, and the seizures were resistant to whatever drugs the doctor would prescribe. Sara knew that there was something very wrong. This young mom describes what she was seeing and the effect that it was having on her and her little princess, “That was the beginning of our horror story. Gabi started seizing what seemed like 500 times a day. They were all small seizures, like atonics, myoclonics, drop attacks, etc, but they were constant, and it was breaking my soul watching her suffer. She was falling, hitting her head. She was full of bruises, and I couldn't leave her alone for one second because she would get hurt.” Is there a way that any of us could imagine what it would be like to experience such a thing?
The doctors were changing Gabi’s medication constantly in hopes of controlling her seizures. This would be all to no avail. Some readers may find this to sound familiar, but for Sara, it all remained a mystery at this point in her life. She had to have answers, and she would remain hopeful that whatever was taking place with Gabi could be cured. The doctors continued to change and add medications but nothing brought the seizures under control. Sara was not the type to sit back and watch as moms usually are not. This was her baby and Sara wanted help for her. It was obvious that they were not dealing with simple epilepsy, but what was it? Doctors would start to head in the right direction, but would fall short of the answer. The results would be difficult, and the heartbreak would continue to intensify. Sara describes more of what she had to deal with as she shares the following, “It was so hard to get to the diagnosis because of restrictions in Croatian health insurance. She needed to go through all kinds of painful medical examinations. We were staying in hospitals for days but every medical report was fine and that was confusing us. Our doctor even considered Batten disease early on, but we tested her on type CLN 1 and CLN2 and her tests were found to be negative.” Gabi’s skin biopsies had been fine so Batten was excluded. Sara would not sit still and wait. She, in fact, would send Gabi’s medical reports to doctors all over the world in hopes of receiving the help that she needed. Again, there was nothing conclusive found, but there were many opinions given.
Sara shared through a post on social media the results of her search. This consisted of consulting with doctors both in Croatia and doctors that were from all over the world. In addition to those who thought of just epilepsy, one doctor thought that Gabi had something called Alpers syndrome and one a syndrome named Aicarda. One thought of something called Movement disorder and two thought that Gabi had Lennox-Gastaut. Four different doctors thought that little Gabi had Doose syndrome. This syndrome is characterized by seizures that are hard to control. This would make sense in part, but the fact was that Gabi was continuing to lose abilities. There were things happening to this dear child that were in addition to seizures. Were the seizures the only thing that was responsible for her decline? Sara described what she was going through, “I think that I was in contact with around forty different neuro-pediatricians, all around the world. I was going crazy, watching my girl losing everything, and not being able to help her. That feeling of helplessness was so terrifying. The only thing that kept me going was the idea that eventually, I would be able to help her. This all would be just ugly memories which we would talk about one day as she grew up healthy and safe.”
No Distance too Great
Eventually, Sara would take Gabi all the way to Children’s hospital in Bonn, Germany. There, for the first time, Sara heard that her daughter had a neuro-degenerative disease, but they couldn’t tell what it was that Gabi had. All throughout this time and throughout this search, feelings deepened. The bond between Sara and Gabi intensified. A daughter looking to her mom for help as her mom sought after an answer. Sara would tell me how hard it was for her. It was difficult to pretend that everything was going to be okay for Gabi when she knew that it would not be. And still, she didn’t have a firm answer. Knowing what she knew about Batten disease because of the earlier tests on Gabi, Sara didn’t feel like it was safe to exclude it. Sara had in fact, watched everything that she could find on the disease, when she had been waiting for the results of the testing. She was scared and she was onto something. Sara was seeing the symptoms of Batten, right before her eyes. This at least until it was excluded as a possibility. Gabi’s doctor would agree with Sara, but the fact was that the genetic testing that was required to exclude the disease was not done in Croatia. Sara needed to rule out Batten in order to look further, and the only way to do that was through this type of testing.
A mom in search of an answer. Sara was driven to get what she needed as she searched the internet for help. That help she would soon find and it would come from an expert in the field of research. Doctor Sara Mole is a professor of Molecular Cell Biology and she is also associated with the Great Ormond Street Hospital in London. She is an expert in the area of Neurodegenerative diseases. Dr. Mole was a key contributor in identifying and determining the characteristics of genes that cause Batten disease. Soon, Sara would have the answer that she sought after. That answer would bring with it a combination of emotions. Relief over knowing, and yet also complete despair and heartache. Sara emailed Dr. Mole, explaining everything that had happened, and the doctor answered. She requested that Sara have the materials needed to perform the necessary genetic testing sent to London. In response Sara sought out the help of a private lab where they performed bloodwork on Sara, Gabi, and Gabi’s father. The material was then shipped by FedEx to London. From that time on, it was just a matter of enduring the wait. I know that most parents would do anything in their power to help their children. Few, however, will have to endure what parents with a child that has a rare disease will face. Awareness for Batten disease has improved greatly since the time that I first started doing these stories. There is an increase of hope with the promise of new clinical trials that are on the horizon. However, in many places the road to finding the answers is still a long and difficult one to travel.
Sara is a very intelligent lady and she knew what was taking place with her Gabi, even before the results of the testing had returned. She knew instinctively that her daughter had Batten Disease. Sara just didn’t know what kind it was. Sweet Gabi had digressed as her condition worsened. It was in November of 2015 that this precious girl lost her vision. By March of 2016, she could no longer walk. She was only six and a half years old at that time. The utter heartbreak that Sara must have felt for her daughter. What was Gabi feeling inside? It was at this point that Sara knew that what she hoped to be able to exclude would actually be confirmed. Sara had learned through her research that there had been a clinical trial taking place in the United States for children that had the CLN6 variant of Batten disease. This involved Gene Replacement Therapy and she hoped that would be the variant that Gabi was fighting. Sara would have packed her bags and traveled anywhere in the world to save her daughter but this was not to be. Sara would tell me that she was sitting and drinking coffee while on vacation in the city of Zadar. This was when she received an email. It was in the month of July in 2016 during the summer holidays, and it was Dr. Mole that had contacted her. The news was devastating even if it was somewhat expected. Gabi, in fact, was diagnosed as having the CLN7 variant of Batten disease. Sara’s worst fears were confirmed. Knowing and yet hoping that her instincts were incorrect. Here is what Sara said about what she felt as she opened the email, “It broke my heart into a million pieces. I knew that every little bit of hope that I had just died. This happened the moment that I opened the email.”
The Process of Realization
Sara had, up until this point, been busy trying to find the answer for what was plaguing her daughter. She really hadn’t taken the time to process her own feelings. There was only time to think about what her next step was for getting the diagnosis. She was only focused on helping Gabi until the time that the truth was determined. Things changed from the moment that she read that email. All of a sudden, she mourned over what the future held. She knew right then that her life would never be the same. This was her Gabi. Her beautiful first born daughter. This was the hardest set of circumstances that Sara would ever face. It was difficult to think about once her mind was free to consider what the future held. It is still difficult. Sara had remarried prior to Gabi being diagnosed and she had given birth to Gabi’s little brother who they named Vigo. The little guy is now four and a half years old. She would later give birth to a little girl who they named Mara. She is now two years old. Mara was a gift to Sara after Gabi’s diagnosis. I am certain that as it is with any parent of a child with special needs, it is difficult to manage a family while caring for such a one as Gabi. Again, when it comes to something like Batten, the challenges can be so much greater. Gabi is precious and she is so worth every bit of extra energy that it takes to care for her.
I am constantly thinking up new catch phrases and differents ways to express my feelings when it comes to kids that battle Batten disease. Please make no mistake, the feelings are genuine. Attached to my blog is a set of phrases that I use to stir the thinking of people that read these stories. Here is a part of it in quote, “Is it them 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.” When you think about what a child’s life is supposed to be like, and you compare it to what these children go through, it should stir your emotions. I have stated what a child’s life should be like on several occasions. It should be filled with innocent and carefree fun as life’s lessons are learned. Batten and other rare diseases take much of that away. At least it tries to, but these kids remain so resilient through most of the struggle and that is why, to me, they are the most amazing. In a post on social media, Sara talks about the resilient nature that Gabi has displayed as she has battled Batten. Those of us who follow these kids have seen this type of thing over and over.
Sara explained that Gabi would go through the changes associated with Batten disease without complaining about what was taking place. It would break any person's heart to see a child losing their vision. This, knowing that seeing the sights and wonders that brought joy to that child were no longer available. I am always amazed at the resilient nature of these children. They make me think about all of the small things that I may complain about on any given day. How would I deal with things if I lost my vision. The loss of Gabi’s eyesight came and went without her complaining. She simply would ask her mom for sunglasses when they were needed to shield her eyes. Everything that would take place with Gabi would be handled by a level of maturity that amazed Sara. Caring for her during these times would only cause the bond between this mother and warrior daughter to increase exponentially. Gabi played and laughed through it all and she is much loved by all who know her. Sara refers to Gabi as a “magical little girl”. That is so easy to see even from such a great distance as this. Gabi is one of the most amazing children, and this has been testified to by all who know her!
Moving for Hope
CLN7 is one of the more rare forms of Batten disease, and it is pretty aggressive in nature. There is not a form of treatment for it at this time, you can only manage the symptoms. Sarah would have done anything in her power to help Gabi. She would have traveled anywhere. There were so many people that cared about Gabi where they lived in Croatia. This included the professionals that did their best to help her medically. Sara though, felt that it would be helpful to move to Germany because the medical system was better equipped to handle Gabi’s situation. There was more knowledge concerning Batten disease in Germany. And so it was during May of 2017 that Gabi and her family left what was familiar for that which was felt to be beneficial. Germany was to be their home until they returned to Croatia the following December. It was while the family was in Germany that this writer had connected with Sara while on-line. I had come to find out that she had been reading the stories written about other little Batten warriors. I had no idea that we would meet one day at the 2019 Batten conference in Denver Colorado, and I was glad that we did. I was happy to know that reading the blog that contains these stories was beneficial to Sara. All this time, sweet Gabi has battled Batten disease and she has done so, so sweetly and with such tender dignity. If these kids do not melt your heart, you either don’t have one or perhaps, you are not paying close enough attention. Please pay attention!
Everyone that has been involved with this blog knows that the questions that I ask can be difficult to answer. I ask them because I want people to know what it is like to be under these kinds of circumstances. I want to know for myself. Empathy, after all, includes being able to understand other people’s feelings and emotions. I know that these feelings run very deep when it comes to these children. You need information in order to write and so I ask. I know that this is not easy. Sharing about what Sara is feeling about this experience was the hardest part for her. Who couldn’t understand that? If you read what Sara had to say, and you care, you can’t help but to be touched by her words. Here is the first part of what she said to me, “It’s so hard for me to speak about what I am feeling about everything that happened. Mostly, I am trying to suppress everything just to function normally but some days are harder than others. I have even learned how to speak about it without any emotion included. This, because if I let myself feel it, I would be overwhelmed. I couldn't be functional for her and my other two children.”
It is dreadful to think about the way in which this disease impacts the lives of children and also those who love them. You could put in its place a number of rare diseases that affect children and the impact would be the same. Batten disease takes away pieces of the child a little at a time. It cannot take everything though. Not the bond that exists between the child and those who love them. It cannot take the memories which remain so vivid in one’s mind. It cannot take away the place that these kids hold within a person’s heart. It just cannot! All of this is more than true when we are speaking about a mother and her child, a mother and her daughter. Sara has had to adjust to the new life that she has as a Batten mom. She said that she had to say goodbye to the old Gabi and she needed to say hello to the Gabi with Batten disease. That was so hard for her because she needed to learn how to move forward as she continued to care for her daughter. And still, the memories are impossible to ignore. Sara puts it like this, “There have been times that I didn’t know who I was without her. I still remember all of the sweet kisses she gave me. I remember all of the times that I heard the word “Mama”. I remember all of the hugs, her voice, her look. I remember her before this disease. There are still painful memories when I had hoped that there would be happy memories one day.” Batten moms are so strong and they are that way for good reason. There is much love and respect from the members of this household for all of you.
The Bond and Being Changed
It is so easy to see the love that Sara has for Gabi’s little brother and sister. There is a lot of hugs and kisses from these two. There is fun and laughter in the house as daily life is lived by these two children. Vigo and Mara now play at the park that has been so adored by their big sister. They are both seeing and experiencing the same things that were experienced by Gabi while she played in the very same places that they now play. Both of these children are experiencing life as it should be by little people. Innocent fun is the order of the day as life’s lessons are learned. Together, as a family, they all love this warrior princess that has fought with such tender dignity. (Continue to battle Gabi. You are so beautiful and you will forever be that!) The entire experience has changed Sara in a big way. How could it not? It was difficult for Sara to talk about how the experience has changed her but she did so with the following, “Everything that happened to Gabi changed me in a way that I couldn’t even imagine. It has made me to have a different view on life in general. I now see what really matters in life, what are the things that are most important, and how to really live your life. It has taught me how to deal with my emotions and how to survive. It made me grow and it made me strong. I would never, ever have thought that I would have survived something like this.”
Sara tries to live each day in the present, while not thinking too far ahead into the future. She does this while making life as normal as possible, and she cherishes everyday that she has with Gabi. I think that this is what is felt by anyone that cares for one of these special ones. I can’t say it enough, kids that battle Batten are some of the most special. The feelings that they produce in people are so strong. The knowledge of their plight, in combination with the love that is felt, produces feelings that are so powerful. For the families, it can be painful. The undying love that they require produces the strongest of bonds. That type of bond can never be broken, nor would you want it to be. The love that is felt is one that is difficult to put into words that are adequate. Sara says as much with this, “My relationship with Gabi is hard to explain in words. I was so young when I gave birth to her and she is part of my identity. I planned on growing old with her. She exists in every part of me. I really couldn’t imagine my life without her and yet I must.” Anything that Sara has been unable to describe in words, she has been able to show us through her actions. Her depth of love for Gabi is clearly seen by the love that she has displayed. I thought of the following in response to what Sara has stated as she expects to one day have to say goodbye. There is no way that I could find words that are adequate,
The love that exists between Gabi and yourself is something that is beautiful to behold. Life is not what you would have expected it to be. There are challenges that you have faced and challenges that will continue. They are things that have not been experienced by many and that will always be part of what makes you special. Gabi will always be a part of who you are as a person, and others will benefit from the things that she has taught you. Things about life, how to love deeply, and how to care for others more fully. After all, Gabi has taught you about the things that are important. Perhaps one day not visible, she will always be present in different ways. Most importantly, she will always live in your heart and that will continue for all of time. The bond between Gabi and yourself is one that could never be broken. You wouldn’t want it to be. She is yours, always and forever. Some angels exist here on earth before they go to heaven. Sincerely,
In closing, I had written earlier about those catch phrases that I create and use on occasion in regards to these special warriors. I would like to do something similar here as I conclude Gabi’s story (her story will never really end):
Gabi is beautiful and there has never been a time that she was not. She's a princess and a warrior that has battled. She is beautiful now and for all of time. Sweet Gabi is every bit like those who have inspired me to write. This, concerning kids who battle Batten disease, “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!” You can’t help but to let it happen when we are talking about one such as Gabi.
~Blogger and Advocate~
“That day I swore to Tegen if he would keep fighting, I would do anything and everything in my power to help him get well. And fight he did…”
Jennifer Fill Crooks
My life has never been the same since the time that I had first become aware. This, concerning those who battle Batten disease but also, concerning the fact that there are things out there that are more important than one’s own self-indulgence. There are things outside of one’s self that bring fulfillment to a person’s life. This world is so big and there are so many needs. And yet, we can only do our own part. Some have the means and the ability to do bigger things on the world stage. I have quoted something that I had written in a previous story a couple of times and I think that it fits here as well. It concerns something that I had seen and how it caused me to take action. The quote comes from a story called Lasting Impressions and it reads as follows, “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. As a family, we had never traveled away from the west coast but we were going to make it happen.” As the story goes, we made that trip and my life has been very different ever since we did. I don’t mean to over dramatize things however, the event did have a major impact on how I now spend my time. It really did!
Don’t get me wrong. I am not changing the world by what I write but I hope that it has had a positive affect on my audience. It would be even better if I knew that more people knew about the families that battle Batten disease as a result of what I do (There are others whose stories deserve to be told and this next story includes some of those people as well). To know that people look beyond themselves because of reading these stories would be special to know about. I have a friend whose name is Sandy and her life changed in almost the same exact way that mine did. She traveled all the way from Down Under to the United States and the great state of Texas to be exact. She wanted to meet her personal Batten prince whose journey she had followed through social media. His name was Casen and his life greatly affected hers. That event changed her as well and it changed her focus in life. She no longer lives to indulge only herself and her interests extend beyond that of just her immediate family. Her introduction on her FB page reads like this, “I love people. They are my true passion. We are here for others, not for ourselves.” I love her intro! Please don’t get me wrong. I live for myself a lot of the time but I find personal fulfillment in knowing that I have done something to help someone else. This, by what I am doing as an advocate. All it takes is my time and sometimes, some of my resources. What I do has a small impact on the lives of others but I love being involved. My desire would be to do more but I do as I am able. I love being able to tell other people’s stories and this next story is no exception. The story itself is, in fact exceptional and it is so deserving of the time that it takes to tell it.
Let’s begin by jumping ahead to something that has just taken place. To know the full story would tell about the significance of the event. A little boy who was once left for dead in a small town in Ethiopia takes his first ride on a horse. This would take place with the help of two very special people on a ranch located outside of a city in the Northern part of Idaho USA. This story, which continues to be written, is not confined to just a single place. Knowing the full story shows how a chain of events that happen over the course of one’s life can sometimes turn into something that is quite beautiful. It shows how success can be used to benefit others who are in need of a helping hand and how pouring yourself out for others can bring so much joy to one’s life. Every once in a while, a person who has the means and the desire to make a difference comes along. That is the case in this next story and the story begins with a little girl. She had a vision for what she had wanted for her life and much of what she had wanted would all come to pass. To me, the story is amazing and it is a privilege to be able to tell it to others, even if only in part. The story includes horses and children, lots of each. It all, however, starts with this one little girl named Jennifer so let’s start by talking about her.
A Future in the Making
Jennifer Ellen Fill was born in New York city in the year 1973. From the very beginning, her life was looked at as being one that was filled with promise. That would in fact one day be the case. She would accomplish much in her life and the building blocks for what the future held for her would soon be set into place. One on top of the other. Everyone knows how strong ethnic ties are felt in a place like New York city. Jennifer’s mother was of proud Irish descent and her love of country would be passed on to Jennifer. This was so much the case that this love would one day lead Jennifer to obtain dual citizenship. I’ll try not to get ahead of myself though. Jennifer’s father was successful in business and his company did business in China and Hong Kong. This would lead Jennifer to experience much very early in her life. Her family would move to Hong Kong when she was very young and they would remain there until she was seven years of age. Her early exposure to the asian culture and the people in Hong Kong would serve to be a building block. At an early age, she would be influenced by her time abroad. It would begin to help shape how she thought in terms of having a family that is ethnically diverse. Seeds were planted.
Jennifer’s family would return to the states when she was seven years old. New Jersey is where she would continued to be raised and horses would then become a big part of her life. Jennifer’s mom had ridden horses as a young adult and she loved it. Again, her mom’s influence had a huge impact on Jennifer and she would take her first ride soon after the family moved back to the states. This also took place at eight years of age. Just like her mom, Jennifer loved riding and a lifetime of doing so started as soon as she mounted a horse for the first time. Another building block was being put into place as she was exposed to the world of equestrian events. Remember, Jennifer was and still is very proud of her Irish decent. Equestrian and horses in general are very big in Ireland. Here in the United States equestrian is confined to the horse riding community. In Ireland, it is viewed as a major sporting event and it is watched by many. As Jennifer would put it, horses are in her blood and it wouldn’t take long for her to start competing in the sport. She was competing by nine years of age. This was proof positive that she was passionate about the things she wanted in life and that character trait was revealed at a very early age.
Jennifer would continue to compete and attend school as the building blocks continued to be put into place. The more she rode and competed, the greater her level of skill as an equestrienne would become. As I chatted with Jennifer for this story I took notice of something. I noticed that she was extremely focused early in her life and she knew what she wanted. I was nowhere near as focused as she was in my preteen years. She was destined to do big things and more seeds would be planted as she viewed a billboard one day while in the city of New York. From the time that Jennifer was a child, she had dreamed of adopting one day. Her early years in Hong Kong had influenced her way of thinking and that was further helped along as she came across this billboard in New York. It was an ad posted for the sometimes controversial Benetton Clothing Company. The ad consisted of a banner which contained the images of children from all over the world and which were of various races. Seeing the ad led her to having a clearer idea about what kind of family she wanted as she got older. She wanted a family that was of mixed race. This is what Jennifer said to me as I asked her about that billboard, “I saw it and thought, those are my dream kids.” The dream would one day become a reality. Another seed had been planted in Jennifer upon seeing that ad and it would one day lead to other building blocks being put into place. She was only twelve years old at the time!
It was not only a dream for Jennifer to have an ethnically diverse family, it was also a dream to compete at the highest level of her sport. It wasn’t just a dream. It was going to happen. Jennifer was the type of person that was going to make it happen as she had that type of drive and determination. Life would move forward and the time would come for her to attend highschool. Jennifer would split her time in highschool by attending two different boarding schools, both of which she said were amazing. Jennifer would first be given a chance to attend a prestigious boarding school for young women named Foxcroft. It was located in the state of Virginia. In addition to giving girls an opportunity to gain an outstanding education, Foxcroft offered programs that are centered around horse riding. These programs are offered to students that are serious equestrian riders and also to those who ride only for recreation and leisure. This was perfect for someone like Jennifer and it would give her an opportunity to excel even further in her sport. I am certain that this was another building block for what her life would one day be about. Life lessons would be learned and the lessons learned as a result of attending this school would stay with Jennifer for a long time.
I don’t know how life could be any better for a young lady during this time in Jennifer’s life. She was living life to the fullest and she was at a school that promoted the things that she loved the most. Her goals remained the same at this time. She wanted to be an equestrian rider at the highest level and Jennifer was in the perfect place for working to achieve that goal. Her first two years of highschool went well but circumstances dictated a change in schools. She, however, would take things in stride as she was enrolled in a different boarding school. This one was named Windsor. Windsor was a school that was designed for kids who were gifted and intelligent but not necessarily excellent at rule following. It did not have an equestrian program but this did not deter Jennifer. She continued to ride and would find a part time job working at a barn after school. She also would continue to compete in equestrian events. I am sure that the time spent at both schools served an important purpose in her life and helped in her development as a person. Both schools taught her that hard work pays dividends!
It would soon be time for Jennifer to head west. It was after high school that she would move to Seattle, Washington. Jennifer was very close to both of her parents but they had separated from one another when she was in her early teens. Her dad was living in Seattle at that time and her mom in London. She was particularly close to her father at that time and had loved what she had seen of the city of Seattle at the time she visited him. She told me that she was a “hippie” kind of chick at the time and Seattle was the perfect place for her to be. That hippie chick still had big things waiting for her on the horizon and the building blocks to her future would continue to be built, one on top of the other. Jennifer’s goal was still to compete at the highest level of the equestrian sport. Working to ride and riding to compete continued to be the center of Jennifer’s existence. Her desire to have a family and those “dream kids” was still in the back of her mind and it would one day become a reality. Pardon the pun, but you can’t put the cart before the horse and her dream family would come in due time. As time passed, and Jennifer continued to compete, she would meet someone who would help take her to the next level of competition. That person would not only be responsible for helping her to get to the top of her sport. He would also become Jennifer’s life partner and means by which her other desires in life would be fulfilled. There was so much more to come!
Mike Crooks was an exceptional person within the horse community and he was also a really neat guy. Mike had grown up on Bainbridge Island, Washington and then in Seattle. He had been exposed to the horse community at a very early age as his mom was a very talented and well respected horse trainer. Mike would follow in his mom’s footsteps and would also become established as a trainer. He had started to work as a trainer at age 16 and was very well established by the time he and Jennifer had met. He was an outstanding horse trainer and the one that would help guide Jennifer to the top of her sport. Jennifer said that her and Mike were set up by a mutual friend. At the time, Mike had owned a farm in Kirkland, Washington and that is the same town that Jennifer lived in. Jennifer’s friend felt that her and Mike had to meet. She felt that the two of them would hit it off well and that would, in fact, be the case. When I asked if her and Mike hit it off quickly, Jennifer replied like this. She said, “in about three seconds.” They were perfect for each other. Mike would turn out to be the grounded type. He would be there to support Jennifer while advising her in all things horse like and also in life. He would be the steady one and Jennifer’s rock. They would spend ten months together and then became man and wife in February of 1997. Mike is an excellent teacher and trainer. Their being together would soon begin to make a difference in Jennifer as she continued to ride. They also would start a family together.
A Life Together
Mike had been 37 years of age and Jennifer was 24 when they married and he would bring two children with him to his marriage with Jennifer. One was his daughter Lauren and the other, his son Sean. Lauren is now 33 years old and Sean is 31. Mike and Jennifer would have two children together as well. Their daughter Ciara was born the day of September the 17th in 1997. She was followed by her brother Hunter. He was born on September the 24th in 1998. There was another person added to the family by means of another kind. Jennifer had a niece named Catherine. She would go on to be raised by Mike and Jennifer as their daughter, and she considers them to be Mom and dad. That right there is special and this was a very special family in the making. Their impact on others would be felt by many and not just in the state of Washington. Their reach would extend to places beyond as Jennifer’s desire to have a racially diverse type of family was still waiting to be fulfilled. Thinking about how busy of a family this was makes my head spin but busy they were. Jennifer would continue to train and compete and right there by her side was Mike. Jennifer said that Mike is the calm half of the equation that makes up their marriage and he would be her support throughout. Jennifer was destined for love. She was destined to love and to be loved in a way that never could have been expected. This would be in addition to the love that she already felt for her family as it was. Mike would be right by her side for all of it.
Mike’s ability to coach Jennifer would begin to pay off as her level of skill as a rider continued to increase. She had been competing at a lower level when they first met but as her level of skill increased, so did the level of competition. Jennifer had a desire to compete on an international level one day and she wanted to do so for the country of Ireland. For this reason, she would apply for and obtain dual citizenship. She would one day ride for Ireland as she competed at the top level. Within a few years, after meeting Mike, Jennifer would be competing at the “Grand Prix” level. This, she would tell me is the highest level on the national circuit. She would one day rise to the Olympic level in riding. But before that, her eyes would be opened by something else that would cause her to look at things on a world level. That would take place as Mike and Jennifer went through the process of adopting for the first time in a foreign land. Her eyes would be opened to the plight of orphans worldwide and life for this family would never be the same after they were.
Jennifer had competed at the international level for the first time in 2002 and this had been life changing. It would be with what took place next that Jennifer’s heart would be changed. This as they worked to complete the process of adopting their daughter Sophie in 2003. Because she had grown up as a small child in Hong Kong, the desire to adopt in China was desirable. Jennifer was able to convince Mike concerning the idea of adoption and they both agreed that China was the place to go. This lady with a huge heart was changed as she viewed the conditions surrounding these children for the first time. These were children just like those that she had spent her early years in Hong Kong with and they were alone and waiting to be loved by a family. Her immediate response was that she personally had to do something to help. Jennifer’s focus would soon be expanded to go beyond what she had already experienced. Those building blocks that had been put into place were being further built upon by this experience. Jennifer shared what her thoughts were as she stepped into an orphanage for the first time with the following, “that first time I walked into an orphanage and learned of the plight of orphans world wide, I knew that my life’s direction had just shifted drastically.”
Jennifer would come home from that first adoption with a new sense of direction for her life and she confided with a friend about it over coffee. She stated to this friend that she wanted to quit the family horse business, and competing in her sport, to start an NGO (Non-governmental organization) working in orphan aide. Her friend’s response was extremely insightful and I want to share what was said to Jennifer. It was stated in the form of two comments, both of which made great sense. Here is what was first stated, “You can’t just be impulsive here as at this point you have no backing to start an NGO. If you can make it to the International/top level of the sport, you will have shown people that you can achieve what you set your mind to.” This was followed by another key point as her friend continued with this, “You will also meet people who have the means to support you in your orphan aid quest if you work hard and are at that level”. I am certain that Mike agreed. This was solid advice. He must have felt that this was the way that Jennifer should proceed if she wanted to go in that direction.
This advice would cause Jennifer to regain her focus while also giving her expanded goals to work towards. Competing now had a purpose beyond bringing home a win. The advice given was something that would come to pass as future events continued to unfold. As Jennifer continued in the family business and in competition, her heart for displaced children in foreign lands continued to grow. She was destined to love and to be loved as the building blocks continue to be put into place. Mike and Jennifer would continue to adopt as they added Holly and then Kai to their family. Both were adopted out of China, Holly in 2005 and Kai the following year. This was a very special family in the making and one that would make a difference. There would be an addition to their family that was of a different kind and this took place in 2006. A friend of the family had found a mare in Holland that was of interest. Mike made the trip to Holland to evaluate the mare and to make the purchase. This, after putting together a syndicate to purchase the mare. Bringing this horse into the fold was another building block that would soon be put into place. This would be the horse that would take Jennifer to the very top level of her sport and the horse would be given the name Uryadi. As already mentioned, Jennifer’s desire would be to become a dual citizen, both of the U.S. and Ireland. She had wanted to ride as a member of the Irish team and had become a citizen of Ireland at age twenty-five. Her success would come with a combination of hard work and Mike’s training, but Jennifer’s rise really took flight as she began to work with Uryadi. The name of this mare would spread in the horse world along with Jennifer’s and together they would achieve success. Jennifer’s dream of competing for Ireland would be achieved while riding Uryadi.
Over the course of Jennifer’s career, she would compete in ten different Nations Cup competitions. It does not get any bigger than that on an international level for the sport of Equestrian. This would take place throughout Europe, Canada, and the United States. The success that Mike and Jennifer had sought together would be achieved while on the back of Uryadi. Competing brought with it fun times that would one day provide a lifetime of memories but this was not something that was done just to bring glory to the family name. Always in the back of Jennifer’s mind was the fact that she wanted to do more to help those that are less fortunate. She was thinking about those children that were trapped, many miles away, in orphanages throughout the world. She was competing for them also because doing so was a serious building block for what she wanted to accomplish for these kids. She was not yet in a position to begin her own work overseas with these children but she was working towards that goal. Mike and Jennifer did what they could as they continued to increase the size of their family through adoption. They would adopt their daughter Ruby out of China in 2008 as their pursuits in horse training and in competition continued. One has to wonder how any one family could keep up such a busy pace with all that they were doing. The fact is, they were keeping that pace and doing things well. As if this wasn’t enough, it was at this time that they decided to move their base of operation.
Competing with Purpose
It was also in 2008 that the Crooks family would move their operations to a farm outside the town of Sandpoint, Idaho. There were many times in which competitions would take place in Calgary and Sandpoint was half-way between Seattle and Calgary. The increasing cost of living in Seattle along with the fact that Mike and Jennifer loved Sandpoint led to their decision to move. There would be many more things yet to come as their family continued to grow both in size and in togetherness. This would all happen as a family from Sandpoint. Jennifer remained focused both in regards to competition and her mission to be involved in orphan aide. Another building block would be put into place as Jennifer read a book about a woman who ran an orphanage in Ethiopia. It was the first one started for children that had tested HIV positive and the book was titled, "There is no me without you". It was from that book that Jennifer would learn about the plight of orphaned children in Ethiopia. She learned that Ethiopia has a larger percentage of orphaned children than any other country in the world. This made her heart go pitter patter and the result would be a keen interest in doing more to help the children of that country. What might you guess would be the result upon Jennifer’s learning this fact? Mike and Jennifer would, once again, increase the size of their family.
This couple was a team and together, they would adopt Mahlia (now 10 years old) in Ethiopia. This would take place in the summer of 2009 and it was at this time that Jennifer would fall in love with Ethiopia after traveling there. She found the country to be beautiful and the people to be warm and friendly. Her eyes were opened to the fact that it was here that she could make a difference. This would not happen in full right away but another building block had been set into place. As Jennifer’s love for the country of Ethiopia grew, so did her love for her family. As a family, they loved what they were doing and they continued to adopt. That family that Jennifer had dreamed of as a child and young adult was now becoming a reality. She was gaining her dream kids beginning with her marriage and now through the foreign adoption. Her trips to Ethiopia would bring Jonah (now 12 years old) to the family in 2010. Following Jonah would be Millie (now 17) in the year 2011.
Even with all of these changes and new challenges, Jennifer continued to ride and compete in equestrian events at the highest level. The Olympics were coming in 2012 and it was her goal to represent Ireland at those games as part of the team. There was a lot of training and preparation that would take place and her hopes were high. The time that Jennifer took to train would help her to make it onto the shortlist to compete for Ireland. This, however, would lead to disappointment as the country would not qualify for the Olympics as a team. Even with this though, Jennifer would continue to compete on an international level. She was an Olympic class show jumper! Jennifer would continue to increase in terms of notoriety but being noteworthy had a purpose behind it. Certainly, she loved horses and the sport that she was involved in. People compete to win and winning feels good but just as her friend would tell her, people take notice when you do win. Her success and competitive spirit would help her to gain the backing that she would one day need. This, in order to help others on a larger scale.
Through her competition, success, and standing in the horse community, Jennifer would build a network of people that believed in her. She would soon gain the monetary support that would be needed to jump start her dream of making a difference abroad. It was a fact though, Mike and Jennifer were already making a difference through their overseas adoptions. The size of the family continued to increase as the number of Jennifer’s “dream kids” continued to grow. Together, she and Mike would add another daughter to the family in 2013. Jade (now 12) came to the Crooks family from China. What an amazing family it was, and it is still waiting to be completed! It would have been so easy to live for all that came with Mike and Jennifer’s Success in the horse world. Expensive vacations to far away places, material objects and pleasure could have been the focus when away from the stable. Instead, the focus was on others. Children that needed love and support were where the emphasis was placed. The big goal was to start working in orphan aid overseas and Jennifer's eyes had been opened to the fact that Ethiopia was a place that was in great need.
The year was 2014 and it was time for Jennifer’s vision for the future to become a reality. She explained to me that things would begin to come together with a fundraiser. It was held while she and Mike were at a competition in Canada. Just as was thought of years before, while having coffee with her friend. The people that made up the horse community would come through in a big way. This, as a sizable amount of money would be raised and the event would get things rolling. Jennifer was able to afford an exploratory trip to Ethiopia to view six potential sights on this first trip to the country. Their story in Ethiopia would include a heartbreaking scene at the beginning but the picture would soon change. Instead, it would become something that is beautiful. One of the sights that they visited had lost funding for the eighteen hungry children that were living there at the time. With them was a nurse who was the head nanny. She was known as Sister Amarech. One day soon, Sister Amarech would take on a significant role in the operation as a project manager. The building that housed the children was a less than desirable facility in town. Actually, way less! That building would one day be replaced by “a beautiful little family style village on a hill outside of town.” With humble beginnings, Jennifer would pour her heart into this project which surrounded these children that were so deserving. There had to be a name that was found to be suitable and it wouldn’t take long to come up with that name. Jennifer would gain non-profit status in both the United States and in Canada and the most perfect name would be thought of, Uryadi’s Village. This most noble cause would be named after a most noble animal. One that was largely responsible for Jennifer’s rise in the equestrian sport!
The operation known as Uryadi’s Village would continue to grow. This, both in its mission and in the number of children that would be loved and supported. I found a short statement in a message that had been directed towards Jennifer’s staff and supporters. In it, Jennifer outlines the goals that have been established for these beautiful children. Here is what it says, “The mission of Uryadi’s Village is to give orphaned children the basic necessities that every child deserves: proper nutrition, education, medical care, and a loving family or community-style living situation, allowing them to grow and blossom in an environment that will ultimately become self sustaining.” It would be one day soon that this mission to the children of Ethiopia would be eighty percent funded by people that love horses. This is exactly what her friend said could potentially happen if Jennifer stayed the course and would continue to compete. What is amazing to me is the fact that she would find success on several different fronts and do so with life becoming increasingly more complex. I am sure that she would tell you that things weren’t always easy and that Mike’s steady hand in their relationship would be key in their success.
As a family, there would be challenges that would come. This, as these beautiful children entered a new family environment in a land that was foreign to them. Jennifer would tell me that some of the kids got off to a really rough start but adjustments were made as the family stayed by each child’s side. I think that it is special that Mike and Jennifer’s biological children have been on board with this and that they are accepting of their new siblings. This is how Jennifer would describe the environment in brief, “Our children are incredibly close, bio and adopted alike. You would never know they were not all born in the same family, except by skin color.” She would go on to talk about how the bigger kids help with the younger and how they all have become the best of friends. I think that these kids would have to be thankful to be part of such a special family. Jennifer feels good about things and says that they “really have the best kids”. I will go out on a limb here and just say that I bet that Mike is a really great dad! Jennifer would tell me as much in this statement about Mike, “He is the most loving, hard working, dedicated father and partner. None of this would be possible without him by my side.” It would be an obvious truth that raising a family of this type would be impossible to do by yourself. Finding the love of Jennifer’s life at the time that she did was yet another building block that was put into place. To find someone that is “all in” as you work to fulfill your dreams is priceless beyond measure. That all came in the person of Mike Crooks!
Concerning those building blocks. The ones that had made up Jennifer’s life had been put into place for a reason. They had in fact, been built into something that is very significant. Jennifer was destined for love and she was destined to give that love to others. There was room for more as three more children would be added to the family. Tegen who is just now turning four years old came to the family in 2016. Little Ellie, who is now three years old, came to the family in 2017. Last but not least, is young Amber. She is nine years old and came to the family in 2018. She was adopted by the Crooks family while already in the United States. This, because her first family didn’t feel she was right for them. She was perfect for someone with a heart like Jennifer’s. As Amber came to the family, it was obvious. Jennifer had her dream kids, both bio and adopted. This family now had fiftteen children, eleven of which were by adoption. You have to be a special couple to create the type of environment that would now exist in this household. Each child in this family is an invidual story in itself and part of another bigger story that makes up the whole. Each one is special. Each has a story of their own to tell. Each found love that they were destined to experience within this family. There was obviously room for many in Jennifer’s heart but her heart would be affected by one in a way that was unique. This was for good reason. Sometimes, things that we feel inside ourselves cannot be described in full.
Jennifer had this to say about her son Tegen. This, as he was brought to her for the first time while she was in Ethiopia. “From the moment I laid eyes on him something in my heart flipped. I knew he was my son and I would do anything and everything in my power to save this precious boy who had been so cruelly abused and abandoned.” Once you know and consider the circumstances that surround this little guy, you can’t help but to feel something yourself. Every so often, we hear about things that are awful to think about. Most of us will push the thought out of the recesses of our mind. We do our best to get back into our happy place by thinking more pleasant thoughts. Tegen’s beginning is one that is very unpleasant to think about. There is much that is unknown and much that is better to not consider. Tegen’s story with the Crooks family began when he was ten months old. The story begins at a time that was soon after the start of Uryadi’s Village. The team had not yet moved into their new village complex as they were still in the initial facility. It was the last day that Jennifer would be present on her trip in June of 2016. Little Tegen had been discovered by an elderly lady as she was walking alongside of a ditch that was nearby. She had found Tegen at the bottom, cold, wet, and shaking. He was found whimpering, and covered in cigarette burns. It was obvious that he had been tortured and left for dead. Tegen had suffered and had been left to die. I cannot imagine a child experiencing such a fate and yet, we know such things happen.
Tegen would have perished on that summer day, except for the fact that he was destined for something else. Mike and Jennifer’s work had already been recognized by the people nearby and the woman that had had found Tegen brought him to their facility. His condition had been noted during his intake at the orphanage. He had been badly neglected and he was malnourished. Tegen was also suffering from neurological issues. Whether they had been present at birth or environmentally induced was yet to be determined. It makes no difference. If you didn’t want this child, wouldn’t it have been better to do what the elderly woman that found him had done? He could have been left at an orphanage instead of being sorely abused. Tegen’s story did not end, alone in a ditch, because he was destined for something else. Tegen was destined for love. Jennifer said that it was on that day that he stole her heart, never to give it back. It was a time in Jennifer’s life that was set aside for Tegen. All of the building blocks that made up Jennifer’s life had been set into place so that he could be brought to her on that day. It had to have been so hard to leave after seeing Tegen for the first time but it was the last day for her to be in Ethiopia. She was on her way to leave at the time he was brought to her. Jennifer left instructions with the staff to watch Tegen very closely as she was going to return in three weeks. She described her actions upon her return with the following words, “I returned to Soddo (our town in Ethiopia) three weeks later and after the six hour drive, went directly to Tegens bed. When I saw him I lost my breath. He was a skeleton, barely alive. I picked him up and took him to our local missionary hospital where he was immediately hospitalized.”
Tegen would undergo testing while at the hospital in Soddo. The results were both shocking and disheartening. This, although they were as would have been expected. Tegen’s blood work revealed a very high level of potassium in his system and a CT scan revealed general brain atrophy. It appeared that Tegen was giving up on life and was near death. Why would he want to live after what life had dealt him so far? Not having the tools to properly diagnose Tegen’s condition, it was felt that he was suffering from untreated meningitis. After two to three days of being watched, it just seemed that little Tegen was slipping away. Dr Michelle, who was an outstanding missionary doctor, was tending to Tegen’s care. She would suggest that Jennifer take Tegen to her home in Ethiopia because he wasn’t strong enough to return to the orphanage. This was against Jennifer’s rule for not taking orphaned babies home with her but in this case, she would make an acception. It was at this very time that Jennifer made her promise to Tegen. She would tell him that if he would just continue to fight, she would do everything possible to help him (All of this was happening as Mike was stateside in Idaho).
The end result would be absolutely amazing! Jennifer described what she had observed in Tegen upon their meeting. She said that his eyes were looking left with no real movement. He wouldn’t move his legs at all, nor did he smile or even cry. It would seem that little Tegen was in shock and why would he not be after all that had transpired. It is heartbreaking to think about it. Jennifer took Tegen home with her and gave him what he should have been getting as a ten month old child. Jennifer gave him the love and affection that he should have already been receiving. She showed Tegen an abundance of love and an endless amount of attention. She snuggled with him because she knew the power that her actions could have on him. It was also the natural thing for her to do! Jennifer repeats some of what I have written already with this quote but it is all worth repeating. Here is what she said, “In the next two weeks I was able to connect with my little TBear deeply and he began to come alive! He could not move when I first got him. Within two weeks, he was moving his arms and legs and starting to use his eyes. He was the sweetest little snuggler EVER! I was in love…..”. The bond that was created as a result is one that is powerful. This was Tegen’s time and his little life would forever be changed as he changed the lives of those around him.
Tegen had come alive and he would continue to fight his way back. Very slowly, he began to drink from a bottle. He could not yet swallow solid foods but he had begun to gain weight. Jennifer was overjoyed by what she was seeing but she felt that there was only so much that could be done for Tegen overseas. He needed to come with her to Idaho so that the family could help in his care. He would also get the medical attention that he needed so badly. Jennifer felt that Tegen’s health condition was not diagnosable in Ethiopia and this allowed her to receive an emergency medical visa for him. So it was in September of 2016 that little Tegen traveled to America where he would become the youngest member of the Crooks family!
What do you think happened as Tegen came home to Idaho and his new family? Tegen would thrive and become the object of his family’s adoration! Here it is, three years from the time that Tegen was first brought home to his new family and he has continued to gain new skills. He does have his challenges and he has overcome much! Tegen is mostly non-verbal but he has a way that melts you as he communicates with his eyes. The joy that he possesses speaks to you in a way that makes words not necessary. He has a giggle that he uses frequently and that giggle fills up the room when he does. Jennifer says that Tegen has astounded his therapists by not only surviving but also by thriving. Tegen is a warrior and he works hard at sitting up with his TLSO (Thoracic Lumbar Sacral Orthosis) brace. He walks using his gate trainer and he even tries to run. Watching him do these things warms a person’s heart. Tegen is a good little eater now. He eats soft foods and purees. He does have a Gtube for his medications and he also needs it on occasion to take in extra fluids. This amazing little miracle man has overcome much. He had a bout with necrotic pancreatitis and he beat it. Tegen started having tonic clonic seizures following a DTap vaccine required for imigration. Being the little fighter that he is, he would rebound from these. There are other instances that were near brushes with death and Tegen has overcome them all. The seizures that continue are managed with low dose medication.
The bond between Tegen and Jennifer began instantaneously upon first sight and it only gained strength in those initial days together. Tegen was healed by the love that he was destined to experience. He had to know that there can be joy in living. Once he was taught that, he would reciprocate that joy to others in a way that has to be experienced to know it in full. Tegen is Jennifer’s heart and it is not just her. He has shifted the hearts of his entire family. Everyone at the Crooks house understands the adverse circumstance that Tegen was brought out of. To come back from being abandoned and left for dead and to rise to where he is now just warms a person’s heart. He is so loving. In fact, Jennifer refers to him as an “amazing love light”. Tegen is a beacon that lights up a person’s world on the darkest of days. His laughter penetrates a person’s inner being. Jennefer’s shares a little bit about his impact on family and friends with the following, “Tegen is adored by his father and siblings. I can’t tell you how special his bond is with each member of our family. Tegen is also our medical recruiter for Uryadi’s Village. When a medical professional meets Tegen, they are drawn to the magical loving spirit of this little miracle boy.”
Jennifer had in mind early the things that she wanted in life. One of those things was to be surrounded by the children that made up a large, ethnically diverse, family. She found a man in Mike that shared that desire with her and they would go on to make a wonderful team. Jennifer would state that children are her life and not just any children but those which face special challenges. She is drawn to orphaned children and especially those who have special needs. She truly amazes me. The building blocks of her life have fit together in a way in which she could experience life just as she had desired to. The rewards of being involved in such a project brings to her life a ton of satisfaction and she says so with the following, “Being able to be part of a team who impacts the lives of the children in our village is a feeling I can’t find words for. It’s the most gratifying feeling ever.” She loves being a part of the team that makes up Uryadi’s Village and says that the project draws to it the most amazing people. As stated above, Tegen is the recruiter of medical professionals for the organization. The little guy draws people to the project in a way that takes no effort on his part. People are just drawn to him. Tegen has brought the attention of both a physical and occupational therapist, as well as a practicing nurse. All of these have become part of the Uryadi’s Village team. He has even brought two board members to the organization. Tegen is an icon for the village. His life has not only affected the activities around Uryadi’s Village, but he has done powerful things in the Ethiopian town of Soddo. He has opened the eyes of many of the people that make up it’s population. They no longer see children that have special needs as a curse or a burden. Many people now see these kids as being a gift from God. Make no mistake. Tegen is a gift from God and he was destined to be that! This little man has also shifted the hearts of people that make up the local community near the orphanage.
Just as it would be with most any parents, Mike and Jennifer looked for a diagnosis for their son. They wanted answers for what was taking place with Tegen. What about the seizures and the atrophy that had taken place in his brain? As it turned out, Tegen has Batten disease. Batten disease is a degenarative neurological disorder that is both rare and terminal. With all that had taken place and all of the things that this little guy had overcome. Tegen and his family would now be confronted with the battle of his life. Biological or adopted, It doesn’t matter. The reaction would be the same from any parent upon learning the news that their child has a disease that is terminal. Tegen had overcome so much and now he was battling a disease for which there is no cure. Jennifer stated that it was as if her heart had been “ripped out” upon receiving the news. The neurologist that had informed her of the findings had been very cold as he delivered the diagnosis. Jennifer would tell me that the doctor was a worst case scenario-ist type and he would offer no hope for little Tegen. Just like most all parents, Jennifer had never heard of Batten disease and there she was, alone to deal with the news. MIke was in tears upon hearing from Jennifer and this caused him to rush to be with her and Tegen. Something like Batten disease can break a heart that belongs to the strongest of men. Mike and Jennifer had already been through so much with Tegen and the hearts of the entire family had been endeared to him. Jennifer would state that the news concerning Tegen was a shock to everyone, including doctors. This was because he had gained skills and not lost them. While the diagnosis brought with it great despair, there was also hope created by news concerning clinical trials that were on the horizon. Tegen had been diagnosed with CLN1 Batten disease and there has been a lot of research put into a cure for this particular variant of Batten. There are two trials coming up in the near future and for the parents of these children, they cannot come soon enough.
Our hearts desire is that the trials would come quickly and that they would prove to be successful. Jennifer did begin to see some subtle changes with Tegen after the diagnoses and she fears that they may be related to the disease. She, however, still remains hopeful and much of that is due to what she sees in Tegen, each and every day. Here is what she would tell me about her outlook for Tegen’s future, “I’m able to stay hopeful and optimistic most days due to Tegen’s amazing and happy personality. I am encouraged by the fact that Gene Replacement Therapy is so close to being available for trial. When I think about what may happen down the road my heart just aches and my eyes spout endless tears. I pray with every ounce of my being that the cure will find my amazing TBear in time.” Her work for the children of Uryadi’s Village and her own family will continue. Jennifer loves each and every child that she comes in contact with but there is just something about this little guy that she calls TBear. The adverse circumstance that surrounded his beginning with life in combination with what he faces as a result of the Batten diagnosis makes your heart melt inside. Just seeing that smile on his face brings sunshine on the darkest of days.
Raising a Village
From humble beginnings and a deep desire to make a difference, Uryadi’s Village has grown and made it’s impact on the lives of children. Jennifer’s heart has realized it’s desire as things have progressed over time. I had learned much about the operation that is Uryadi’s Village by reading a message that Jennifer had written to her staff and to her supporters. From its start, which was in a single rented building that housed eighteen hungry children to an actual village. The operation that had started in 2014 has grown in its ability to help kids and the surrounding community. In 2018 alone, Uryadi’s Village was able to “meaningfully impact and change the lives of just over two hundred amazing children.” Construction projects have continued over time as the need for increased capacity and outreach to the surrounding community has been determined to be needed. Things like medical training and an agricultural outreach to the people nearby shows a commitment that has been noticed by the government in that region. This is on top of the tender care that is being provided to its smallest citizens. Uryadi’s Village seeks to place children in homes through foster care and local adoption, as well as, providing care at the village. This writer is a parent to one of the most beautiful of persons with special needs. It is for that reason that the commitment of Uryadi’s Village to serving orphans with special needs is so appreciated. They are the only facility in the region to do this. My hope is that more people will realize the value that these special ones possess through the actions of the Village. They can truly change a person’s way of thinking and can make this world a better place to live. Uryadi’s Village has visions for helping the people in the local community to become self-sustained through training and employment opportunities.
The organization continues to grow with time. Mike has been there as Jennifer’s rock and has helped to steady Jennifer. This, as the project has grown into something very special under her direction. How does she do it? Perhaps this is one situation where it really does take a village. Jennifer has a lot of wonderful people by her side, and also, wonderful people that are financial supporters of what is being done through Uryadi’s Village. Jennifer has been recognized by the boarding school that she attended during her first two years of high school. This, even though she had left to attend another school. The Foxcroft School honored Jennifer by naming her the Distinguished Alumna (class of 1991) for 2019. They recognized Jennifer’s work as an International Non-profit in helping orphaned children in Ethiopia. Jennifer’s heart for helping the ones that need help the most was recognized by the school, just as it has by all who know her. It makes sense that they would not pass up an opportunity to draw attention to such an outstanding person. One who has passed through the hallways of such a prestigious school as Foxcroft. It is always nice when a person is recognized for the things that they have achieved but Jennifer doesn’t do what she does for the glory that she might receive. She does it because she truly loves children. It is gratifying to anyone when they know that they are making a difference on the planet. Jennifer and her team are making a difference. Life is best lived when it is not about living for one’s self. This, as much as when it is about taking the opportunities that are given to be involved in the lives of others.
Jennifer had a strong understanding of what she wanted out of life from a very early age. It was through the adoption of her daughter Sophie that she was made aware of the plight of orphaned children in underdeveloped countries. Her heart was shifted at that time and she has acted on what she had been shown in a big way! Orphaned children will always be a part of who Jennifer is for as long as she is able to be there for them. This story is about an amazing family that is made up of children that come from both an adopted and biological origin. There is one very special little man in particular at Crooks’ house and he is the center of everyone’s attention. That would be Tegen! This, because the entire family knows what Tegen has been through and they also know about the battle that he faces. As a family, they all rally around the TBear. Jennifer and Tegen are inseparable. Where Jennifer goes, Tegen goes also. The bond between Jennifer and Tegen is incredibly strong and there is nothing that she wouldn’t give to see him win this battle. Mike’s strength is of great importance in the family’s fight against Batten Disease. Tegen is the perfect candidate for Gene Replacement Therapy because of his ability to fight back. Jennifer’s type of determination will serve to make sure that he is involved in the upcoming trial. That is, if at all possible. Believe me, it is more than possible! Jennifer shares her thoughts of hope and determination with the following, “We plan on beating this horrible disease! We work every day to follow Tegen’s lead and to be hopeful and happy. I can't imagine my life without Tegen. I don’t even want to go there. I do sometimes, of course, and it’s the worst feeling ever. I can't describe it (Just typing this makes me cry). So our plan is to beat this so that Tegen will go on being his super star self! I have friends who ask to hold him because they need him, not because he needs them. He truly is a miracle.”
I have observed the bond that most often exists between Batten warriors and their families. I have witnessed it online from great distances and even up close at Batten conferences. It never ceases to amaze me, although I understand it in part. These kids tug at your heart like none other (I know there are other little warriors in a similar plight). Jennifer does her best to describe what I am talking about with the following, “Tegen is my heart. I can’t describe my bond with him without tearing up. I am very close to all of my children, but I think it’s the EXTREME adversity that Tegen has faced (brings out my big ole Mama Bear feelings). This, combined with how hard he tries every single day, always with a smile. That makes him my hero. We sleep hugging as we are deeply connected. Tegen is my heart and he is my hero. He and Mike are my partners in all we do!” If I was at Mike and Jennifer’s house, I wouldn’t want to let go of Tegen either.
Tegen is so special and he was destined to be that! It is very significant to see him smiling and riding on the back of a horse in Idaho, USA. His is a life that almost was not. What a beautiful little man he is! Jennifer was destined to do this work and to be Tegen’s mommy. This all came about as a result of the building blocks that were placed in her life. That life would include Tegen, the most treasured gift. Life is much better when you live it for others and doing so brings with it, great rewards! Tegen was meant to experience the joy of living this life. He was destined to be loved and to give love back to others. What a little miracle man he is! This family’s story is amazing and It is a privilege for me to be able to tell it to others, even if only in part. Thank you for your time!
Blogger and Advocate
“Having an almost 2 year old and 4 month old twins, I was overwhelmed! But I felt blessed, because they were ‘healthy’ and so on this day I chose the mantra ‘They're healthy, they're healthy’. I'll never forget that moment and how I felt.”
Batten Mom and Advocate
It is always appreciated when I come into contact with people that can provide insight for an area that I wish to write about. While I am a parent to a young adult with special needs, I still have much to learn about what it would be like to care for someone with a fatal childhood disease. What is it like to experience what these families go through on an emotional level? I know that the answer would seem to be obvious but understanding can help lead us to empathy and that is one of the reasons that I write. There are certainly other types of difficult circumstances that living in this world can bring our way. That is often the nature of living on this planet. Even so, watching a child digress because of a terminal disease that you have no control over is perhaps the worst thing that a parent can go through. Especially with the knowledge of what the course of that disease will bring.
I have had a couple of online friendships with people that have provided home healthcare to children with Batten disease. I always welcome it when they are allowed to share about the experience of caring for these dear ones (these kids are the most special). I was pleased when I met yet another person who cared for children with fatal childhood diseases. Her name is Linny Price and hers has become another valued friendship. She is not only a very neat person but she is also a retired nurse who cared for kids with rare and fatal diseases. Added to her experience of caring for these kids is the grief that she experienced with the loss of her husband. Everything together helps to form her perspective on things. Here is some of what she said in comments that she had made, “Being a nurse who worked with terminally ill children, I don't think there is anything worse than that. Even when my husband died prematurely, I was able to work through my grief, although it took six years. But it is different when it's your child. Conceived out of love, a creation, YOURS, an unconditional love. All you ever want for your children is the best. But when you get a diagnosis that is not possible to fix, your heart breaks. Why? Because you would do anything to save your child.” She would go on to continue those thoughts by adding this, “A mother or father would give their life to save their child, however, at this time in our lives the research is slow and that makes a parent feel so guilty that there's nothing that they can do.”
Sometimes, I look at these kids and think about how beautiful they are. My mind then wanders to the fact that they have this devastating disease and they are automatically endeared to my heart. As a result, I long to celebrate each one of them as their families share their journeys. I try to focus on the positive details of undying love and devotion that exists in each one of these kid’s stories but the facts concerning what is dealt with are often devastating. And still, it is during these times that those details are most clearly seen. To me, what is dealt with will always be above that which is of the ordinary. I have adopted a phrase as of late and have used it in my writing on occasion. It goes like this, “Batten families are made up of ordinary people that have been asked to do that which is extraordinary. In the process, they become completely special.” This is an outsider's perspective of course. The people that make up the Batten community will tell you that as parents, they are just doing what is required to care for their child, or children in some cases. While that may be true, the things that are required of the parents or caregivers are often times well above that which anyone would expect.
I have noted the things that I have observed about the Batten community on several occasions. One of the things that I have noticed is that different people have different ways of dealing with the heartache and the circumstances that they are surrounded by. It doesn’t matter what a person’s social and economic status is, the battle that is Batten disease is a traumatic experience. The big thing that I have noticed is how each parent regroups and commits to doing their very best to help their child battle the monster that is Batten disease. Each one does what they are able to do and the members of the Batten community do what they can to help one another through this difficult challenge. All have an important role to play and they do so, for the most part, behind the scenes in chat windows and over the phone. Sometimes, people have the means and the ability to do more.
Linny mentioned that more needs to be done in the area of research and several of the families have taken up the task of raising funds for this upon themselves. This, because their cause has been neglected by others. Here is what Linny said about this, “These rare diseases don't get the amount of money needed for research in order to to find a cure. I think that it's a great idea when foundations are set up to raise money that otherwise would never be gotten.” These foundations are often set up by the families that have the means and capability to do so. In the end, they are not only doing what they do for their own children, but also for others that are affected with the same disease. Foundations are a fantastic way to make a difference in the battle that is Batten disease but there are also other ways in which people have put their “boots on the ground” so to speak. This next story is about a family that took action in an effort to save their own children. A father who was used to fixing things and finding solutions would do everything in his power to help his own son. This, after he and his wife received the alarming news that their child had Batten disease, a condition that they previously did not know existed. This is a story about an upper middle class family that has been on a journey that never could have been expected. Their lives would be changed forever as a result. This, in a profound kind of way.
Planning for the Ordinary
Tracy and Jennifer VanHoutan had the desire to be just an ordinary family, raising children successfully with all of the normal milestones and events taking place. Two of their children, Noah and Laine, are now the most beautiful Batten angels that people will ever know about. Both of their lives changed the lives of their family forever. The actions that were taken as soon as Noah was diagnosed are extraordinary and Laine’s diagnosis would only increase the intensity of the search for a treatment and a cure. There was much that was accomplished as a result of the actions that were taken and those actions would helped many future warriors who battle Batten disease. I think that it is safe to say that the lives of Noah and Laine have, and will continue to, affect the lives of others in a big way. Neither will be forgotten because they would both be impossible to forget. I met Tracy and Jennifer in Nashville, Tennessee while at the Batten conference in 2018. I was immediately impressed with them upon our meeting and I felt that I was in the presence of people that are very special. The more that I have learned about them, the more I know this to be true. This, especially after receiving the details of the story that I am about to tell. I hope that I can do it justice.
Just as it is in most every case, a love story begins with two people that meet and fall in love. Make no mistake, this is a love story. Tracy VanHoutan and Jennifer Farnaus were both career driven people, and both had attended college. Tracy went to the University of Iowa and Jennifer attended Loyola University Chicago. Jennifer had traveled to Rome where she had spent a year of her life after graduation and she was then back home. It was 1996 and the Chicago Bulls were in their heyday. Michael Jordan, Scottie Pippen, Dennis Rodman. Do you remember all those guys? You should! They were dominant that year and would go on to become champions of the NBA. It was during the playoffs that Tracy and Jennifer would meet at a mutual friend’s house. Craig was Jennifer’s high school friend and Tracy’s fraternity brother from college. Tracy and Jennifer were both there to hang out and watch the game. Neither knew at that time that their lives would be spent together. They certainly didn’t know what that life together would entail but there was an attraction towards one another and it is certainly easy to see why that would be possible. The future couple started to “hang out” together that summer and would go on to have their first date in the later part of August 1996. Jennifer would tell me that they had no expectations except for finding their way in the world. Both would become gainfully employed with a successful future in mind. Tracy would gain a position as a Trader with the Chicago Board of Options Exchange and Jennifer would begin to work in residential and commercial real estate marketing. They were finding their way and that way would include each other. The young couple would date for five years, after which, they became man and wife.
Life as newlyweds continued, and both continued to build their careers. Every couple looks forward to buying their first home and this would take place for Tracy and Jennifer in 2003. They bought a house in the suburbs of Chicago and it was their very own. Things were really starting to take shape. More times than not, a big part of marriage involves having a family together. It is amazing how things change as children come along. They change our circumstances and they change who we are as people. This was about to happen for the VanHoutans in a big way. Jennifer became pregnant in 2003 and she would go on to have a normal pregnancy. As Spring of 2004 rolled around, so did the event that Tracy and Jennifer had greatly anticipated. That being the birth of their first child. They had a boy and he would be named Noah. After a moderately difficult delivery Noah was watched in the NICU for a few hours. Doctors wanted to continue to monitor Noah’s heart rate after he was delivered, and they determined that he was just fine after this short stay. Baby Noah was the most perfect little man. He had all of his fingers and toes and such a cute little nose. Jennifer would stay fixated on her baby’s little features as she could not take her eyes off of him. He was all boy but oh, so sweet. The only thing that drew her attention away from baby Noah was the time that it took to look at her husband Tracy. This, as he looked on with extreme pride over their new child. Tracy must have felt like he was on top of the world at this point. He had a beautiful wife, a house, and a career path with tons of potential. On top of it all was the fact that he and Jennifer had brought this life into the world together. He had a son.
Noah would develop normally as he grew into toddlerhood. He was healthy and he brought so much joy to everyone who was a part of his family. He could often be heard giggling as he enjoyed having childhood fun. He loved trains and spending time with dad who was always on hand for a wrestling match with his adorable little man. Noah also loved getting into mischief on occasion but the innocence that he possessed as a child could clearly be seen. There is something about the connection that little boys have with baseball and Noah was no exception. It is clear that his parents fostered a love for the sport from a very early age. The Chicago Cubs were much loved at the VanHoutan house and that love was quickly passed on to Noah. He could often be seen wearing his toddler size Cubs hat, as well as, other cubs apparel. The family dreamed that Noah would one day pitch for their beloved Cubbies as he helped them win a World Series. Life was good and the experience of having their first child would lead to a desire to increase the size of their family.
Filling Out Their Family
Tracy and Jennifer wanted another baby and they were happy to receive the news that this was going to happen. Jennifer was pregnant once again. This news came about one month after Noah’s first birthday and it would be shortly after that when they would receive some additional news. Jennifer was going to have twins! Apparently, she had told her mom when she was young that she would one day have twins. Her little person prediction had come true and the house was filled with excitement over this news. Perhaps the excitement was mixed with a little nervous anticipation over what the future would hold. It would only be months away that their house would be filled with children and their attention would be divided by three. Things were taking shape, and everything was as it should be. Once again, Jennifer’s pregnancy would go smoothly overall and she would receive plenty of help during that time. Tracy and Jennifer had been in the middle of a large remodel of their home and they were living with Jennifer’s parents as the house was being worked on. I am sure that Noah loved all of the extra attention that he had been receiving while at his grandparents’ house. Grandparents are cool and they are fun to be around when you are a little person! The time would come for the next big event to happen in the lives of the VanHoutan family. Noah was only twenty months old when his mommy gave birth to twin sisters. They would be born in January of 2006 and were named Laine and Emily. Both were beautiful and just like their big brother, they both came into this world with all of their fingers and toes. Both were covered in brand new baby skin and they were oh, so perfect. Jennifer had carried her girls for thirty-seven and a half weeks and she was overjoyed with their arrival. Mommy and her twin girls would arrive home two days after they were born and all at once, this family was a family of five people.
Just as one would expect, things would be a little bit overwhelming for Jennifer and dad too at times. They had their hands full. Literally, with little people. The attention required between Noah and the twins was divided but again, they were still living with Jennifer’s parents and that was a big help. There was a lot of joy and laughter as everyone enjoyed this experience together. Tracy, Jennifer, and their children would move back into their updated home nine weeks after the twins were born. Noah had learned to walk when he was ten months old and he was all over the place by the time his sisters were born. Not only was he getting around, but he was also getting into mischief on occasion. Noah was all boy! There was one incident that Jennifer will never forget. Here it is in her own words, “One particular moment I remember fondly was when we moved back into our home with a newly remodeled kitchen - while I was taking care of Laine & Emily in their bedroom I heard a mischievous laugh coming from the kitchen. Noah, almost two, pushed a chair up to the sink and climb up and turned on the faucet and decided to give our new kitchen a bath!” Noah, what were you thinking? Keeping up with Noah while also taking care of four-month-old twins was a challenge for sure. Jennifer said that she felt overwhelmed at times but also said that she felt blessed. Her children were healthy, and she had no reason to believe anything other than they would continue to be. Both she and Tracy were looking forward to all the life events that would take place as these three little people continued to grow and develop. Things were good at the VanHoutan house and life together was full of potential.
After about a year, and being the oldest, Noah had a head start on all things as far as his development was concerned. He would soon turn three years old and was at that time attending preschool. It was while Noah was at preschool that certain things were noticed. One thing was that he was impulsive and the other was that he had an inability to sit still. It was also noticed that Noah was slower in responding when asked a question. It seemed that he was a little slower in the development of his speech when compared to the other children. As a result of all of this, Noah would be evaluated at three and a half years of age within the public-school district. It was determined that he fit some of the criteria of a special needs child. What would be alarming to any parent was that Noah was apparently having tremors. The VanHoutans would, of course, have Noah seen by doctors which included his first neurologist. After seeing this doctor, the VanHoutans would be told that the symptoms that were being seen were normal for a boy. They were assured that Noah would grow out of them. This assumption would turn out to be false as something even more frightening would happen with little Noah in just a few short months.
It would be four months prior to Noah’s fourth Birthday that an event would take place that would shake any parent. Without warning, Noah collapsed and would stop breathing. After being evaluated by medical professionals, it was felt that Noah had probably experienced a seizure. Nobody goes into parenting expecting something like this to happen. It is a complete shock when it does and the memory of it happening never leaves you. It would not be long, just a couple of weeks, before Noah would have another seizure. It is very common for all children to receive the diagnosis of childhood epilepsy when seizures continue to happen. That is what would take place with Noah and bringing the seizures under control would become the objective. The fact that it was difficult to control Noah’s seizures with medication would lead one to think that there was more going on than simple epilepsy. Finding the right doctor who would help in finding the answer would prove to be difficult for the VanHoutans. The pure joy that had been present in the home was gradually being replaced with a mixture of love and deep concern.
Treatment with medication would be coupled with testing and an MRI of Noah’s brain would be performed about nine months after he was diagnosed with epilepsy. The results of the MRI would show that there was atrophy, or shrinkage, that had taken place in Noah’s brain. There was no cause associated with the findings and there were other signs that something very serious that was taking place. Noah was starting to digress in his ability to perform simple tasks. Things like eating with a fork and brushing his teeth were now becoming difficult. All of this together must have been difficult to be a part of. Major problems, never expected, were taking place with their precious son. More than just epilepsy. The VanHoutans needed answers and finding them started with the help of Jennifer’s friend. Her stepfather helped connect Tracy and Jennifer with the Chief of Pediatric Neurology at Duke University in North Carolina. It would be just weeks later that Jennifer and her mom Jacque would take little Noah and travel to 850 miles by car to Duke. Once there, Noah would undergo a two-week evaluation in which he many different tests. He would undergo every test that the medical team felt was associated with Noah’s symptoms. These would include a skin punch and blood tests that would be sent to two different labs. Another thing that was done for Noah was that he was started on the Ketogenic Diet for the purpose of helping to control the seizures. This diet has helped others and it would appear to help Noah initially. The fog that had surrounded him looked like it had been lifted. There was a measure of optimism as dietary change seemed to bring with it a good result. The seizures, however, would not go away. The doctors tried to take away one of Noah’s seizure medications while they were at Duke, but his seizures continued. Jennifer and Jacque returned home with Noah two weeks later and Noah was doing better but was not seizure free.
Still on the horizon was the day that Noah’s test results would come back. Once the results were received, life at the VanHoutan home would change forever. Their lives, and that of their extended family, would not be the same. Both were career-oriented people who also wanted a family. They expected to experience normal American things, being lived out in everyday American suburbia. Tracy and Jennifer would soon find themselves being a part of a community that they did not yet know existed. They had no idea how their lives would be impacted, nor could they know how their lives would impact the lives of others. It would be about a couple of weeks after the trip to Duke university, on Saint Patrick’s Day of 2009, that things would change forever. The family was sitting down to enjoy their Saint Paddy’s day meal and Jennifer had prepared a Ketogenic appropriate meal for mister Noah. That is when the phone rang. It had been about sixteen months since the time that Noah had experienced his first seizure and his family was about to learn the truth concerning his condition. The phone was picked up and Noah’s neurologist from Duke was on the other end. The results had come back and the findings were that Noah had been diagnosed with Late Infantile Neuronal Ceroid Lipofuscinosis, now more known as CLN2 Batten disease. A holiday that was meant to be enjoyed together as a family would forever become a reminder of a day that will never be forgotten. They would begin to do what most any family would in this day and age. They started to do research on the condition. Here is how Jennifer stated their respond to the news, “Over the next few hours as we researched the disease, our world quickly crumbled. It was never the same again.”
It was a fact that the VanHoutan family would never be the same again. The life that they had planned and talked about sharing together would not come as it was expected. There would be sweet times ahead for sure but they would be mixed together with heartache and grief. Tracy and Jennifer would experience things never considered and for them, not yet known about. In the midst of their own personal struggle, they would discover a purpose and a path to display the leadership qualities that they possessed. Everything that they would become as a result of the news about Noah would begin as Tracy opened his laptop to do research on his son’s diagnosis. As it is with most any set of parents that receive the news that brings devastation, Tracy and Jennifer wanted to know what the mechanisms of Batten disease were. It would all begin with a search of the internet and the result would be what anyone would expect. They searched for answers while maintaining calm for the sake Noah’s sisters but inwardly they were very alarmed. Their world was beginning to crumble as they learned that Noah’s condition was fatal. No cure or treatment was yet available.
Coming to Terms
Together, the VanHoutans would learn everything that they possibly could about the disease that their young son had been diagnosed with. The information that they would find all seemed to be unreal. How was something like this possible? Noah was, up to the time that symptoms appeared, so healthy. How could there be no cure, and why was more not being done to find a treatment and a cure? Right away, they would connect with the Batten disease Support and Research Association (BDSRA) and they would also set up their own non-profit foundation. This would take place only weeks after Noah was diagnosed. The foundation would come to be known as Noah’s Hope. The VanHoutans were fortunate to have their Batten disease education jump started by a family friend who compiled a pair of five inch binders filled with recent scientific publications on different forms of Batten disease (also known as NCLs - Neuronal ceroid lipofuscinosis).
Jennifer would tell me that her husband is a very binary person. By this, I think that she means that Tracy is methodical and a problem solver. In fact, she stated that he believes that for every problem, there is a solution. He is analytical in his approach to finding those solutions. Tracy grew up in Iowa where he often times worked on farms. There are always things on farms that are broken, and which require fixing. He was used to fixing things that are broken and he was not about to sit around and wait for others to fix the situation that surrounded his son. Both Jennifer and Tracy worked full time as Noah received his diagnosis. Jennifer said that her husband would work late into the night on his research as she managed Noah’s seizures. As I have stated before, I am always impressed with Batten families and how they regroup after being giving the news that brings complete despair. What is done for their children as they do so is extraordinary and completely special. Everyone will have a part to play in the community that they find themselves being a part of. Some have the ability and the means to do more and, in the process, they will help many. The only thing that registered with Tracy at the very beginning was how he could go about helping his son Noah. In the process, both Tracy and Jennifer would end up helping many others.
And still, it was sweet Noah that was the center of their attention. As a family, they did everything they could for Noah while also providing a stable home environment for their two daughters. Heartbroken but resolute, they pressed on. Jennifer has shared with others what the environment at home was like through what has been written for the Noah’s Hope website. Here is an excerpt from that page, “When we learned that Noah had CLN2 Batten disease, our world literally fell apart. As we frantically tried to learn as much as we could about his terrible illness, we worked hard to keep everything at home peaceful and uneventful. It was very important to us that the girls would continue their busy lives with as little interruption as possible. They were our shining lights of joy amid our new chaos, and we went to great lengths to keep up their dance classes and play dates.”
One thing that I have observed and have come to know is that there is most often a special bond that exists between twins. Brothers or sisters, one of each, it doesn’t matter. I think that the bond is maternal as they really begin the relationship in mom’s tummy. Where one twin is, you will often find the other. They play together. Grow up together and get into mischief together. The bond is one that lasts a lifetime and it begins even before birth. As Noah began to battle, the relationship between Laine and Emily would continue to grow. Jennifer referred to what she had seen between the two as a “twinship”. These two little girls were together all the time. So much so that it was difficult to keep even their names separate. Ballet class and tea parties, you name it! They did everything together and they even shared a room. But before all was said and done, Batten disease would have a tremendous impact on the relationship and circumstances surrounding these two sisters. Tracy and Jennifer still had no idea what all would take place with their family or what the future would hold. The VanHoutan just knew that they could not sit back and do nothing.
Tracy’s actions which resulted from his research were most notable. Not only had he collected the data on his son’s disease, but he acted on what he found. He spoke frequently via phone to the Executive Director of BDSRA, who was also a parent who had lost a child to Batten disease. Tracy also made calls to a researcher who was a member of his Alma Mater, the University of Iowa. It doesn’t end there. Tracy went to where the research was actually taking place. He would travel to both England and Germany to identify scientists that were working on developing therapies. This, to replace the missing enzyme needed to clean out harmful wastes in his son brain. Tracy would learn of a summit that was being held in Hamburg Germany in June 0f 2009. It was the 12th International Congress on Neuronal Ceroid Lipofuscinoses. Upon learning about this meeting, he booked a flight and traveled to be in attendance. Tracy would meet a researcher while at the summit in Germany. The story about Noah’s plight would have a profound impact on her and I am sure that his story would greatly affect her future research. Tracy would continue to travel as Jennifer’s parents helped with the children. Their family’s story would continue to spread among those who were researching treatments for their son’s disease. One point that this writer would like to make is that Tracy was not intimidated by the immensity of the challenge. He just acted on what he learned as he sought to solve the problem. More needed to be done and it was his goal to make sure that happened. There was no excuse for a lack of action. Noah had been diagnosed in March of 2009. It had been such a shock, just as it would be for any family. Jennifer stated that she honestly felt, at that time, that Noah would not succumb to the disease. She felt that science would advance enough in time for that to not happen.
The Balancing Act
As a team, Tracy and Jennifer were going to give their best in an effort to help that happen. Life became a balancing act. This between work life and Noah’s care. Keeping up on the advances of research and living family life. What about the twins and their needs? There were certainly all of the activities that go along with having twin daughters. Accomplishing everything, all at once, was a huge challenge. The following quote describes the couple’s approach to the challenges that they faced together, “We decided early on, we would create a balanced life for Emily and Laine as we knew Noah was pretty sick and at that point, no treatment in sight. Being able to keep Noah safe (he was still walking, but falling down often), was a challenge every minute of the day.” Jennifer was working at the time while a nanny helped with the children and she would often be called on to manage a fall or a seizure. As Noah’s Disease progressed, so would the challenges associated with caring for him. This did not stop them from taking action through Noah’s hope. This, both on Noah’s behalf and also in order to help others afflicted with CLN2 Batten disease. The non-profit foundation Noah’s Hope was founded in order to promote research and to help raise the money required to fund it. The number of initiatives funded, and actions taken over time would continue to grow as the VanHoutan’s own battle continued. This was a family that was working together. Not just for their own benefit but also for that of others.
Just like so many Batten children, Noah was granted a Make-A-Wish trip and he would meet his hero while he was there. Lightning McQueen was his guy and Noah was so happy to be at Disney to meet him. The family would stay at Give Kids the World Village. Jen’s parents, Mamo and Hoppa, as Noah named them before Batten disease took his ability to speak away, and her sister joined them while staying in a condo which was nearby. Jen and Tracy would also be joined by some friends for a time as well during the stay. These are memories that would never be forgotten. It needs to be noted that Noah’s sister Laine would fall in love with Cinderella and all things that are princess like on this trip. She was, herself, such a princess unaware. It would not be long after their return home that they were off again for the weekend to attend their first BDSRA family Batten conference. This would take place in St. Louis as they returned in July. Little Noah was still pretty functional during that first conference and had met at little girl who also had CLN2. She was from the great state of Texas and the two of them quickly became friends. They would play well together in kids care and this allowed Tracy and Jennifer to attend every meeting possible. This was a new experience and they would take in every bit of information that they could. BDSRA does a fantastic job with the siblings of Batten kids and they would provide care for Laine and Emily in the “Teddy Bear” club. This would allow the VanHoutans even more time to network with other families.
Tracy and Jennifer would need the relationships that they would begin to develop with the other families as there was much more to follow. Their hearts would soon be broken for a second time. Once again, their world would be turned upside down. They had quickly learned at the beginning that the disease was genetic and therefore, it was possible for one or both of Noah’s siblings to also have the disease. Laine and Emily, who were three years old at the time of Noah’s diagnosis, were watched closely for a while. Tracy felt strongly that the twins needed to be tested for Batten disease and so they were. The results of the testing provided a date that will never be forgotten. It would take weeks to get a conclusive result, but it was on August the 17th of 2009 that the family received the news. Laine also had the disease. Her twin, however, did not. Emily did not have CLN2 Batten. This happened exactly five months after Noah was diagnosed. Just like her big brother Noah, Laine had been normal and healthy in her early childhood development. She would reach all of her early milestones and her life seemed to be full of future potential. As had been the case with little Noah, the VanHoutans had considered all of the future events that should have taken place. Personal growth for both of their twin girls. Soccer and softball games, dance class and school clubs. Graduations at the various levels of education. College and weddings for each of them. It, however, was not be because Batten disease was fatal. How distressing this would be for any parent. The life that you had dreamed of having with your children was not to be. Jennifer described what life had been like for Laine and her twin sisters prior to Laine’s diagnosis. Again, this quote is taken from the Noah’s Hope website, “Our house rang with her giggles as she galloped down the hallway with her twin sister Emily. They were always a pair, whether coloring pictures for Mommy, snuggling during naps, or showing off their newest princess dresses.” All of a sudden, that which had been experienced was now in jeopardy of not continuing.
Little Laine was showing no symptoms whatsoever at the time that she and her sister Emily had been tested. The VanHoutans had hoped and prayed that the ugly disease that had invaded their home had not affected either one of their daughters. Their hopes were dashed with Laine’s diagnosis. Laine would begin having seizures just weeks after they received the word. She was then, three years and eight months old. Tracy and Jennifer’s hearts must have shattered with that first seizure. They had seen their son Noah digress and they knew what was coming with Laine. What about the twinship? What about Lainey, that adorable little half of this precious sisterhood that they had enjoyed watching? It is so difficult to make abrupt life changes when things like this take place. It is a cruel thing at times, but life doesn’t stop for Batten disease. It just heaps itself on top of existing anxiety. Jennifer described the effect that this news had on her after it was received, “This was devastating. I had a hard time functioning but had to because I had three children who needed me daily and I had a job I needed to do (with many deadlines since I worked in advertising).” Within the span of just a few months, the VanHoutan’s life had been turned upside down and it was never to be the same. Tracy responded by digging deeper into his research. Jennifer said that he was trying to identify as many researchers as possible. Somebody had to be on the cusp of making a breakthrough in science that would help his children! As the summer of 2009 went on, they continued to learn more about the disease and things became much harder with Laine’s diagnosis. Simply put, Jennifer explained it like this, “I was at a loss and had a hard time.” Just like many of the resilient little men that would come before and after Noah, he was “blissfully unaware” of what was going on around him. Jennifer stated in Noah’s Hope that it was apparent, Noah was frustrated at times by his loss of control. This, even though he was never really conscious of his decline.
Jennifer shared in Noah’s Hope the fact that unlike Noah, Laine would be completely aware of what was taking place in her body. This because she knew what had taken place with Noah. She recalled that Laine had crawled into their bed and with innocent eyes looking at her parents, said the following, “I can’t see! I can’t see! Like Noah?” On the website, the question is then asks, “What do you say at a moment like this? What do you say when your little girl can see her future in her sick brother’s deteriorating body, and you can’t do anything to stop it?” That is what would take place, and this is what was faced by this family. What about Emily? She was also aware of what was taking place with her twin sister. It was Emily that had found Laine when she was having her first seizure. This happened while they were napping together one afternoon. How scary! Can any of us understand how she must have felt at the time? This, with Emily being so close to her twin sister. So many questions came to Jennifer’s mind. How could she help her children? How could they survive all of this as a family? The thing is that this same type of thing has been experienced by other families. This, being those who have more than one child that has been diagnosed with Batten disease. Even with one, it is at times, too much to bear. For Noah and now Laine, there was no treatment yet available. How helpless this would make any parent feel! Jennifer would tell me a couple of things that for the rest of us, would seem like an understatement. They are included here in what she had to say, “It was a tough year - but I chose to keep moving forward and do the best we could with where we were. We had a wonderful school district who supported us and our friends, family and parents supported us as well. It was busy in our home for years.”
Jennifer was already aware of what sweet Laine was facing as she was diagnosed in August of 2009. As a result, she chose to apply for a Make-A-Wish trip for Laine before she regressed too far to enjoy the trip. Of course, she was excepted. Jennifer had wanted Laine to enjoy a visit with Cinderella. Remember, she loved princesses and Jennifer’s little princess would soon meet another! This time, things were kept simple with the help of Jennifer’s parents. They were good enough to watch Noah while she and Tracy went on the trip to Disney with Laine and Emily. Jennifer would be more than comfortable with this in part because her mom was a very experienced registered nurse. Doing things this way would allow them to focus more attention on Laine. Lainey would spend time with Cinderella and Prince Charming while at Disney and you just know that it was a very special time for everyone. Memories that are impossible to forget are made on these Make-A-Wish trips. This is, of course, in addition to joy that it brings to a most deserving child.
Noah would be enrolled in a program for kids with special needs in the fall. Laine and Emily would attend preschool together as Laine was still able to walk. This, however, would be the only year that they would do so. The VanHoutans would be advised that Laine receive full time support while continuing in preschool. When four-year-old preschool began, Emily on the other hand, would be enrolled in a Montessori school as she achieved completion of the program. It was a sad reality that Batten disease was robbing Laine of the potential that she shared with Emily. The twinship would begin to be deeply affected as the two girls were separated for the first time. As one would expect, time would continue on and so would the progression of Batten disease in Noah and also Laine. As Jennifer shared the details of their journey with me, she shared something that was difficult for her to write. It had to do with her twin daughters, and this is what she said in written word, “The hardest part of Batten is that Emily and Laine are twins. Emily had to watch her once playful mate lose her abilities. Emily was such a good toddler and easy-going-spirit for so much of Noah's diagnosis journey. However, she had a difficult time at age five because that is when she began to notice her twin sister not keeping up with her in so many ways.” Once walking and talking together constantly, Laine was changing, and Emily just couldn’t understand. She was only five years old. Jennifer continued on and briefly described the struggle with Laine’s twin sister and life in general, “Emily acted out and that was a struggle because I knew why and couldn't make it better. I struggled to get her to Montessori almost daily and was stressed to race home to be on a conference call or just even get my work done while the kids were at school.”
Noah was a typical little boy. This, up to the time, and even after he started having seizures. He was fun loving, and he loved his mom and dad. He ran and he played. His favorite things were those that were used in transportation. Trains, cars, trucks, and especially, his toy dump truck. He loved baseball and the Chicago Cubs were his team. He loved playing the sport in his own little way and he loved it when people took the time to play it with him. He came from good stock, as they like to say. Both parents being college educated and intelligent. Noah showed everyone, early on, that he had great potential and people felt that he had a very bright future. Sister Laine was cut from the same mold when it came to being intelligent. She would grow to love everything princess like and she was, herself, a darling little princess. She so impressed the people who knew her best. The most impressive thing that her mom had observed is Laine teaching herself to walk. Jennifer said that her daughter never cruised before walking. This is what she said concerning Laine as she first took flight, “She saw Emily walking one day and was determined to walk. So, Laine crawled into the middle of the room and kept trying to stand up and launch herself into a walk. She did it for about an hour and that is all it took! She was walking from then on.” Jennifer also talked about Laine’s ability to tell a story using the pictures that she viewed while looking at books. Hoppa taught her this! Jennifer will always remember the day that she found Laine in a ballet first position. She learned this from a book about ballet. She had interpreted the book and she was only two years old at the time! She was yet another, brilliant little mind that was soaking up information. People could see the potential that was there from a very early age.
The Juggling Act
Things can change in such a very short time. Especially when we are talking about the journey that is Batten disease. In Noah’s Hope, Jennifer referred to life in their home as being a “juggling act”. It is a similar experience for any parent or caregiver who devotes their time to one of these little warriors. What about when there is more than one Batten child to care for? The giving of medications that are constantly changing as the disease progresses. Emergency room visits and sleepless nights. In home procedures to keep oxygen levels up or to just help your child to be able to breath. By age six, Noah was confined to a wheelchair and was starting to be tube fed. The cruel reality is that his sister Laine would one day follow this pattern because the treatment that the VanHoutans sought after would not yet be available. These kids are the most resilient as they continue to find joy in living, even as their health is declining. One thing that I have learned is that it is completely devastating to a parent when they no longer see their child smiling. They just are no longer able to do so. Jennifer said that it was in 2011 that it seemed that Noah was able to communicate “Yes” and “No” by blinking his eyes. That, however, would not last long as his body continue to decline. All of this was just devastating to see happening. It would make any parent feel helpless. Handsome Noah would battle so hard even as his spirit “continued to inspire” those who loved him. This, even as the disease progressed in his body. To watch the ruthless nature of Batten disease and the way that it affected Noah’s life was so challenging. Yet the VanHoutans would remain determined in their desire to make a difference while also helping their son through his difficult journey.
And then there were these adorable twin sisters, Laine and Emily. Lainey would soon be able to walk only by the aid of a walker and It was becoming a struggle to feed her. The seizures would become hard to control and this was difficult to watch. Each seizure would be another reminder concerning the severity of her condition. Laine would remain aware of her own decline for some time after her diagnosis and that would break the hearts of those who loved her. You could only imagine the feelings of frustration as her decline continued. Noah’s Hope describes a time that will never be forgotten. This, as the impact of Batten disease would begin to affect the relationship between these two sisters. From Noah’s Hope, “It was a terrible day for Laine when she realized that she could no longer run with Emily. They did manage to walk down the aisle at a friend’s wedding in June of 2011—our beautiful twin flower girls. Sadly, that was one of the last walks the girls ever took together.” I don’t believe that twin sisters could ever be separated but the relationship between Laine and Emily would become more distant as the disease progressed in Laine. That part especially, saddens me. The amazing thing, although not surprising, is that Laine’s relationship with Noah deepened as her health continued to decline. Laine would “light up” around Noah and her smile brought a smile to other people’s faces as they looked on. Daily, there were challenges and reasons to be heartbroken but there were also sweet times that would bring an abundance of things to be remembered. Jennifer talked about the mixture of feelings as she shared the following from the website, “We cherished each smile. And while we mourned for the future that could have been, we embraced each day that we had, cherishing our little blue-eyed girl who used to dance.”
The VanHoutans are people of action. It had to be discouraging at times to watch as two of their three children’s health declined. And yet, they involved themselves in the lives of others and the cause of making a difference in the lives of those people. They were as active in the Batten community as any and would seek to make a difference on the world level. Because of this, Tracy would be selected to serve on the board for BDSRA (Batten Disease Support and Research Association). He would serve there from 2010 to 2017. Alongside any good man is a good woman and that person would be Jennifer. Balancing work, family, and the care of their little warriors was a challenge but that would not get in the way of their work in the Batten community (This writer endeavored to write about the VanHoutans after hearing their names mentioned by several different people). As has been mentioned previously, Tracy was always actively involved in knowing about research that has taken place for the treatment and the cure of CLN2 Batten disease. He would be keenly interested in things that could potentially help his children but also things that could help others. Through their own plight, the VanHoutans had discovered a purpose that they never knew existed as they were involved in the battle that is Batten disease. Tracy and Jennifer were a small part of the rare disease community, but they were trying to make a big difference. I think that they were well equipped for this and in fact, the VanHoutans would make a big difference. As a couple, they would be aware of potential treatments for Batten disease and would also be in discussion with those that were involved in bringing them about. One of the potential therapies was something known as Enzyme Replacement Therapy. This was something that could have helped their children had it been developed and approved sooner. The development of this technology had gained the interest of a biotech firm that had expertise in enzyme-based therapies. The company had invested significant resources to develop this treatment but was facing regulatory issues and delays. In fact, the delays grew to the point that the clinical trial opened and enrolled patients in Europe prior to the clinical trial opening in the United States.
Again, Tracy would not be intimidated by the immensity of the task. He committed to working to help speed up the process. The list of initiatives for Noah’s Hope states that Tracy would appear before a committee of members for the Food and Drug Administration in 2011. In that appearance, he discussed the challenges that were faced in the rare disease community as a result of the lack of speed at which new treatments were approved. At that meeting, Tracy would go on to submit a list of proposed changes to members of the FDA. It would not stop there. Over the course of time, Tracy would make several trips to Washington, DC. and worked with other advocates to recruit members of the House and Senate to be a part of the Rare Disease Congressional Caucus. This is not minor league stuff! Noah’s Hope would become a key supporter of legislation to help give rare disease patients better access to new therapies through accelerated approval of such treatments.
Making a Difference
In September of 2013, Tracy was invited to give testimony before the Rare Disease Congressional Caucus. It was during that appearance that Tracy spoke about the disease that affected his children and his testimony was very moving to say the least. He would then go on to talk about the formation of the non-profit foundation known as Noah’s Hope. He explained how the foundation had co-funded research at Rutgers University. The goal had been to develop enzyme replacement therapy for CLN2 Batten disease. Tracy then spoke about the clinical trial opening up enrollment of patients in Europe before the clinical trial was approved to move forward in the United States. Tracy emphasized the real life consequences of these delays and that regulatory delays were slowing access for patients. This type of thing was not new to those seeking to make a difference in the lives of those who had a rare disease.
Tracy’s testimony, which was based on knowledge of the facts, would be an eye opener for those who were in attendance. Therapies that were developed by American companies and funded by U.S. dollars were being exported to be tested in trials overseas because of regulatory delays. This type of thing was affecting the VanHoutan family, but it was also affecting many others. Changes needed to be made and again, Tracy would offer his opinion as to what those changes should be. He and Jennifer, through Noah’s Hope, would make a difference and as a result, they would become recognized as leaders within the rare disease community at large. It would not be practical to mention everything that was done through Noah’s Hope in helping to bring Enzyme Replacement therapy to affected children in the United States. It just needs to be known that the effort put forth by the VanHoutans is recognized by BDSRA, the FDA, BioMarin (the biotech firm), and also different rare disease advocacy groups. The VanHoutans made a difference that was impactful. That is what happens when impassioned people who are qualified and equipped take action. Tracy and Jennifer were maybe a little more than ordinary at the beginning, but they would become recognized by most as taking action that would be considered extraordinary. In the beginning and throughout, the goal would be to help their own children along with the others facing Batten disease. As time moved on, it would become more apparent that time was not in Noah and Laine’s favor. However, Noah and Lainey’s life would not be lived in vain. Not only have both of their lives impacted the members of their family but, through their parent’s actions, their lives have impacted countless others. Noah and Laine are beautiful for all of eternity.
What was dreamed of for baby Noah as Tracy and Jennifer began their family would not come to pass. Unaware as he may have been, Noah would build a legacy that will be felt for a lifetime. This quote from Noah’s Hope describes perfectly the days that made up the majority of Noah’s life. It would be wrong for me to use it for reference only. Here is what is written in full, “The days are long, but the years are short. Never has this seemed more true than for our son Noah. While we focused on loving and caring for our children, we spent most of Noah’s short life researching, fundraising, collaborating, and searching for a cure. And even as we faced the harsh reality that a cure would not come soon enough for Noah, we plunged ahead with the many changes that life demanded.” Noah gained his wings in March of 2016. He was just shy of his twelfth Birthday and it had been seven years since he had been diagnosed. The first FDA approved therapy for any form of Batten disease was approved in the United States on April the 27th of 2017. It’s my feeling that its approval will always be a part of Noah’s legacy. This, Because of the action taken through Noah’s Hope. Just like a lot of little boys from the greater Chicago area, Noah loved baseball and his Cubbies were the bestest. Noah was loved by many during his short time on this planet. Noah’s life would provide many precious memories that are full of sweet details and this provided just a few of them. One detail that would be considered sweet to any Cubs fan would be that which is stated in a fact that Jennifer shared with me “We often tossed the ball with him (Noah) in our yard. We dreamed he would be a southpaw for the Chicago Cubs. The year Noah passed; the Cubs won the World Series!!! It had been 108 years without them even being in the WS! I think that there were many angels in the outfield, including Noah.” Noah’s life will always have been of the greatest importance.
Laine, or Lainey Lou, as she was called affectionately, was an absolute earth angel and also a warrior of a princess. Just like her big brother Noah, she would battle Batten disease as she gave it everything that she had. She was so loved by everyone that knew her and she was beautiful as could be. Her brother had passed into eternity prior to the approval of enzyme replacement therapy in the United States. Laine would join her brother after the approval had come but she had digressed to the point that she would no longer qualify for the trial. Lainey gained her wings in March of 2018. She had just celebrated her twelfth birthday. Just like her big brother, she had been surrounded by her family and friends who adored her. She was free and finally at peace. Also, like Noah, her battle had not been fought in vain. This because both of these children had impacted the mission of Noah’s Hope in a profound way. Not only that but both of them were so loved and still are. Their lives both provided memories that are full of sweet details that existed amid the heartbrokenness. The lives of kids that battle Batten disease are priceless beyond what words can tell. I’ve said it before that these kid’s affect people like known other. Even though their lives are cut short, they mold people into something that they may have otherwise never been had they not come along. Tell me that this isn’t true! One of the cute things about Noah is that he was responsible for giving special names to each of his grandparents.
An Extraordinary Family
Of course, there were Jennifer’s parents, who I have already mentioned. Noah had named them Mamo and Hoppa and they were all very close. Not only close in proximity but also with the bond that they shared. I want to make mention of the fact that Noah had given special names to his other grandparents. Madilyn is Tracy’s mom, but is known really as Mandy. However, to Noah, she was not Mandy. Noah had given her the named Beeba. Beeba lives 300 miles away from the VanHoutans and resides in the state of Iowa. The family would travel to see Grandma Mandy during Memorial Day weekend and over Thanksgiving each year until the demands of Batten disease got in the way. That would not stop Beeba from seeing her grandkids as she then began to travel in the other direction a few times each year. She would stay involved in the lives of Noah and Laine as much as possible, even attending the families first few Batten conferences together. In doing so, she would build relationships with another very special group of people. Tracy’s dad and step-mom who were known as “Grandpa Jerry and Grandma Susan” to Noah and Laine live in Michigan. They would visit the VanHoutans a few times a year. For many years all five grandparents would travel to attend the Batten conference. Just like Mamo and Beeba, Grandma Susan dearly loves her two Batten angels and their lives have all been deeply affected by their little journeys. Speaking of the way that the lives of Noah and Laine have affected the people in their family, what about their two sisters, Emily and Colette? Did I forget to mention Colette? No, I saved that opportunity for right now but let's talk about Emily first.
Jennifer would state that Emily has seen more in her thirteen years of life than most adults. That is, in fact, the truth and you just know that Emily’s experience with her siblings would bring with it a level of maturity and insight not possessed by most people her age. I get the feeling from talking to Jennifer that Emily guards her emotions and her conversation concerning her experience with Noah and Laine. She is, however, a very talented young lady who expresses herself in her writing and with writing songs. Her singing voice is very pretty, and her talent extends to her ability to sing songs well. Sisters stay sisters for life and there are none closer than twin sisters. They start out together in the womb and they share all the different stages of growth. They are connected in a way that can only be experience by twins. I believe that Emily will take Laine, and the experience of having her as a sister, with her for the rest of her days. Laine will always be a part of who Emily is as a person and others will benefit as a result. Emily’s connection with Noah and Laine extends to other siblings within the Batten community. The best example is a girl named Sophia who had met Laine and Emily very early on at a Batten conference. She was born just one day after the twins and has developed a deep friendship over the years with Emily. These two young ladies understand each other’s feelings like none other can. The Batten community is amazing and very supportive of one another. Emily and Sophia are just another example of that.
Emily is a blessing to her parents and so is Colette. Like her sister Emily, Colette does not have Batten disease. She was only fourteen months old when her big brother would join his angel counterparts. Her memory of Laine would be a little bit greater because she was three years old when Lainey gained her wings. Even with her being at such a young age, Colette knew how to assist in the care of Noah and Laine. At the very least, she gave it her best in her own sweet little way. Jennifer stated the following concerning the effect that the entire experience will have on Colette, “I believe this is imprinted on her soul and she will grow up with a caring nature, even though she may not remember Noah and Laine physically.” She will always be aware of her big brother and Emily’s twin as there are photos of them all over the house. There is no doubt that being a part of a family with two Batten angels will have a great effect on Colette. I wonder if her life helps to fill a void left by the departure of her siblings? Perhaps that is not possible. Noah and Laine, however, are still present, even if now in spirit and in the hearts of those who love them!
Things aren’t as they would have been had Batten disease not invaded the home of the VanHoutans. Things are different but actions have been taken for the good of others. Tracy and Jennifer have high standards. This along with their training and education would have brought them continued success, both in their careers and in family life. The Batten experience has added some things that they never would have expected. Certainly, they would have rather had Noah and Laine healthy and whole but they have taken the most difficult of circumstances and have been motivated to influence the lives of others. They are both people that have made a difference in the battle against Batten disease and their involvement still continues through Noah’s Hope. They now have a big extended family in the Batten community and in this, they have received comfort. Instead of friendships, they have what Jennifer likes to refer to as “familyships”. They receive support from people around the world as they return that support in kind. Noah’s Hope has continued to support research over the years through a number of initiatives that have aided in that support through funding. Both Tracy and Jennifer continue to be a voice for those who want to bring about change. They are tremendous advocates that do things behind the scenes for those associated with this cause. Raising funds and supporting the research community is their emphasis along with the support that they offer to those who make up the Batten community.
One of these “familyships” is with the Kennicott family who also live in Illinois. Their daughter, Bridget, was about 6 months younger than Noah and a year older than Laine. Bridget was diagnosed with CLN2 Batten disease in 2009 too – and so these two families quickly found each other and shared ideas and resources. The Kennicotts told the VanHoutans about a pediatric palliative/hospice group. This was game-changing for the VanHoutans in their care for Noah & Laine. Because the Kennicotts set up “Hope 4 Bridget” in 2009, and their mission of research and education was the same as “Noah’s Hope”, the VanHoutans and Kennicotts created a joint 501©(3) a few years into their Batten journey and created “Noah’s Hope-Hope 4 Bridget”. Even with three angels, these families remain close. Another familyships that was developed with the VanHoutans happened between them and the Diaz family. Alex and Barbara Diaz were a young couple who desired to have a family together. Barbara had brought to the marriage a beautiful daughter but she and Alex had a desire to increase the size of their family. This would be accomplished through the lives of the new additions, Mia and Kaleb. Both of these children would be beautiful just as their big sister Jaylen was. This being true, each of these children would bring with them a real challenge for Alex and Barbara. Both Mia and Kaleb would one day be diagnosed with CLN2 Batten disease. This, just as Noah and Laine had been at an earlier date. The difference was that both Mia and Kaleb would be able to become recipients of enzyme replacement therapy. You see, the actions taken by the VanHoutans would, in large part, help the Diaz family in a big way. Mia and Kaleb benefited greatly because of this. It was at the time that I did the story of the Diaz family that Barbara Diaz had made mention of the VanHoutans. The story was titled “Warriors Unaware” and it has become the standard for all other stories that have come after it. In that story, Barbara would talk about the impact that the VanHoutans would have on them as a family.
Here is what was said by Barbara in Warriors Unaware, “Just days after receiving the Batten diagnosis, through a web of other special needs family Facebook groups, I found a family who also had two kiddos with Batten. I was able to get on the phone with the VanHoutans and talk to them for a while. They had so much helpful information about therapies, vitamins and supplements but most importantly they told me about a clinical trial. There were two at the time, one was a very invasive gene transfer in New York City and the other was an enzyme replacement therapy overseas. (please note, current gene therapies today have a different delivery method). At the time, New York’s gene replacement therapy was the only U.S. clinical trial available, the clinical trial for enzyme replacement therapy had just begun in Germany. On this call, the VanHoutans told me that they would take the enzyme replacement route if they still could.” Barbara would go on to say the following, “My mind was all over the place while still trying to process everything and grieve but what they told me, stuck with me and I immediately sent my first email to Biomarin.”
The VanHoutans had brought a great deal of comfort to Barbara as they talked with her on that first phone call. They had experience and knowledge that was so beneficial at that time. They knew what she was feeling. Tracy and Jennifer were the people that Barbara needed on the other end of the phone and that experience will never be forgotten by her. I am certain that this experience has been shared by many others who would make contact with the VanHoutans at the beginning of the Batten journey. It would be about seven months later that the VanHoutans would vacation in Florida, just a couple of hours away from where the Diaz family lived. Alex, Barbara, and family would make the trip to meet this amazing couple and it would be an experience that they would never forget. Just as they had on the phone, the VanHoutans would give great comfort to the Diaz family because of the shared experience as a Batten family. This was something that Alex and Barbara needed greatly at that time. Here is some of what Barbara had to say about that meeting with the VanHoutans and it closes with what Tracy and Jennifer mean to the Diaz family, “They were the first Batten family we met and just like having them on the phone, it was just as comforting. Noah stayed back home for this trip but we were able to meet Emily and Laine. We had one of the most important conversations we’ve ever had over dinner and swam until the sun went down. The VanHoutans are so dear and special to our family. We are so grateful for them and their hard work. Without them I don't think we would be where we are now. We love the VanHoutans.” I could go on and find more examples concerning the contributions of the VanHoutan family, however, I think that I have made my point by now. These are special people. The lives of Noah and Laine have impacted the lives of many others through the actions taken by their parents. Not only this but Noah and Laine will be beautiful for all of eternity. They will live on through the legacy that has been built and will continue to be present in spirit.
I had been keeping it in mind to find a title for this story throughout the time I was writing it, however, it had remained a bit of a struggle. Jennifer would wind up helping with this and as usual, her help was just what I needed. Do you know what a Juxtaposition is? I had an idea but I looked it up to make sure that I knew for certain. Here is how the word is defined in Wikipedia,
“Juxtaposition is an act or instance of placing two elements close together or side by side. This is often done in order to compare/contrast the two, to show similarities or differences, etc.”
A juxtaposition is what I had in mind when I had once used the term “A Beautiful Tragedy” in the introduction to another story. I was trying to share some observations of mine. This, by stating that the journey that is Batten disease is a tragic but also that within it are details that are beautiful. It is tragic when any child is taken from their parents because of a disease like Batten. Make no mistake, it truly is awful. It is also true though, many of the details that make up the stories of these young people’s lives are beautiful. Tell me that this is not true! Jennifer had shared with me something that was said by Tracy concerning young Noah’s funeral.
Tracy had told Jennifer that the event was “awfully beautiful”. I believe that the implication was that it was awful to have to say goodbye to Noah, but the way that his funeral was done was beautiful. It is awful in so many ways to take the journey that is Batten disease. Along the way, so many things that are beautiful in regards to these two children were seen. Many beautiful things have come out of something that is awful. So many of the memories that I have been allowed to recount are beautiful. They stand side by side with the awfulness that is this disease. The journey that was taken by Noah and Laine was awful to observe. Standing out among that awfulness are the sweet details that make up both of their lives. That is where the title of this story comes from and it was given to me by someone who speaks with authority. Noah and Lainey’s lives will always be beautiful. Awfully beautiful!
Blogger and Advocate
Much of the material that was brought together for this article exists on the Noah's Hope website. Please feel free to take a look:
I would also love for you to watch this video and others that exist on the Tracy VanHoutan YouTube channel:
“To this day I remember the nurse placing this warm body onto my chest. I looked into his eyes and instantly felt an incredible bond. As quickly as this happened however our little boy who we named Ollie, our Olliebobs was taken off of me. I was not well and was rushed into theatre. A few hours later, and thankfully, I found myself holding this precious baby in my arms again. This time I had two more bundles of joy jumping on my bed desperate to meet the new edition. In that moment I didn't feel like life could get any better.”
Batten Mum and Advocate
The phrase “A Beautiful Tragedy” came to me one day. I did not know at the time if I had heard it before so I did a search on the internet. As it turns out it has been used for a name of an album by a heavy metal rock band. It was also used as a title to a movie about a young ballet dancer. Who knows where else it may have been used. On this particular day I had thought of it in the context of Batten Disease. There is nothing beautiful about a tragic occurrence! Tragedy leaves people feeling hopeless and in shock over what has transpired. Questions arise as to why the events have taken place and why it involved a particular individual or group. It leaves some feeling philosophical about life and some may have questions that are spiritual in nature. I was personally thinking in terms of tragic love stories, like Romeo and Juliet. 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. Going through such a thing can make or break a person. Adverse circumstances and events often change people and shape their character. Sometimes for the better and sometimes not. Sometimes the changes in one person can affect another. In fact, some will take the adverse circumstances that are faced and will use the experience to help other people in a similar situation. Think about people that have gone into battle and who have survived. To them, the trials of everyday life are nothing to sweat over. This because their character was formed over adversity and they have learned to not sweat the “small stuff”.
I hate Batten Disease because I know that it produces tragic results that reside with the families that have lost that which is the most precious to them. The details of the journey can be extremely moving. This, because those details express the outpouring of love towards these young warriors in an extraordinary way. The details also express the love and dependence of the young warrior upon their caregiver. The bond is absolutely like none other. It is the most heart wrenching experience when it is necessary to say goodbye and only the love that was expressed through action remains along with a void that can never be filled. Only the sweet memories of the experience can carry a person through such a thing. That and the promise that is often made to carry on as best as one can. These kids change people and most often it is for the good of others. Yes, it is tragic but many of the details are beautiful.
It is a tragic thing whenever a child is diagnosed with a fatal disease. It is always a positive though, when treatment and progress towards a cure comes about. It is also a positive when you see people getting involved and taking action that not only benefit their own family, but also helps others that are involved in the same battle. Such would be the case when it comes to the couple that is Mike Carroll and his wife Lucy Faith. Anybody that follows children with Batten Disease knows them as Ollie and Amelia’s parents. Ollie and Amelia have two older brothers, Danny and Micky. Neither have Batten Disease but both Ollie and Amelia were diagnosed with the CLN2 variant of Battens. They are two of the most adorable little Batten warriors that you will find. Ollie’s Army is a well known Facebook page and there is also a website with the same name. I remember the type of reaction that I had the first time that I viewed the page. This, although I can’t remember what my first thought was. I know that it was something like, “Oh wow, what an attractive family.”
The fact that they are from the UK had me drawing a comparison between Mike and Lucy and the couples from the Royal Monarchy. At the time, my feelings were that as far as appearance is concerned, those people had nothing on this attractive young couple. I approached Lucy initially about doing a short blog about her family at the beginning of my time as a writer/blogger. I later decided that this family’s story needed to be told more fully and so I approached Lucy once again. One thing that I noticed while gathering information about her family is that Lucy herself is very well written. She didn’t require my help in telling her own story. It is for this, and other reasons, that I so appreciated her allowing me to place her family’s story in this blog. From the very beginning, Mike and Lucy have sought to be leaders in spreading awareness as they battle Batten Disease. Like the other families that have been forced to take up this battle, they find themselves in the midst of adverse circumstances. I know that there has to be many difficult days but also ones that provide so many priceless memories. After all, they are parents to both a prince and a princess. For that reason alone, they will be forever royal to me. Mike and Lucy's story would be so beautiful, with or without Batten Disease being part of it. Like with so many of these stories, it all begins with two people that fall in love and this story is no exception to that.
Their Story Begins
Mike Carroll and Lucy Faith met one another as teenagers. Lucy was sixteen and Mike was seventeen. They were both working at a leisure center as lifeguards in Lucy’s hometown of Poyntown. The town of Poyntown resides in Cheshire, England. Mike lived just up the road in a town named Bollington. Although so close to one another in the places they lived, it was not until this time that they would meet. Lucy thought that it might sound a little cheesy to say so, but for her it was love at first sight when it came to Mike. Isn’t that often the way it happens? In addition to Mike’s good looks, Lucy found him to be incredibly funny. Lucy would tell me that she felt at the time that Mike wouldn’t look twice at her. You know what? I bet it didn’t take Mike more than one look to notice Lucy. The attraction was mutual and their future together would begin then and there. One of the other things that attracted Lucy to Mike was that he had a driver’s license and she was still too young to have one of her own. This means that Mike was not only good looking but he was useful! They would go on their first date with a group of their peers and from that time on they were inseparable. From then on, there would be a lot more dates and many late night conversations. There is no doubt that they discussed a future together and all that they would want in life. Things like career goals, marriage, and having a family.
You just know that with both of them being lifeguards, they had to be somewhat athletic. That would be an understatement in Mike’s case as he was a professional footballer prior to meeting Lucy. What do I mean by that? Do I mean like with pads and a helmet? No, you silly Americans. In this country we have incorrectly labeled it soccer, but in the rest of the world the sport is known as Football. Go figure! You do use your feet to kick the ball. In various places throughout the world, Major league Football is associated with clubs that produce future players through a youth system. Kids who show promise are promoted through the ranks until they reach the top. Youths are actually signed to sports contracts. This just amazes me! As an example, Mike had been playing for a club in Everton at age 11 after which he was signed to a two year contract by a club named Oldham Athletic. Mike would be hampered by injury but he continued to pursue his dream of playing at the top level of his sport. It was not only a dream but also a very possible reality as he was just that good. In fact, At one point Mike met a scout that was sent to watch him. The scout was sent directly by the manager of the Manchester United which is part of the Premier Football League. He was just that good and it doesn’t get any better. Unfortunately, he continued to have problems with injuries. Although he would sign for another club after recovering, he would have to give up the sport as a professional. Football was Mike’s life and a long career in it was his dream, but it was not to be. He would, however, press on with life and this is about the time that Lucy would enter it. Mike continued to play football. First semi-professionally and locally after meeting Lucy.
Together, Mike and Lucy would start their family and an entire life together. Lucy had been studying health and social care alongside working a part time job at the time that the two of them had met, She would later receive her degree. Mike would go on to receive training in school to become a bricklayer. Now, we are not talking about brick fences and retaining walls in your front yard, although it could include that. Construction in the UK with brick is obviously very popular in residential and commercial construction. Mike had a desire to, one day, have his own company as a contractor and bricklaying seemed like a good fit. Is that a pun? I am not sure. Anyways, as they wanted a family together, perhaps his children could be part of the business if they so desired. Mike would set up his business later, in 2014. First thing first though. It is a perfectly good and normal thing for a young couple to want to raise a family. Mike and Lucy would be no exception to that. In fact, they would want a fairly large family as they both loved kids. One of the things that attracted Mike to Lucy was her attitude towards caring for others. At the time that they had first met, Mike had a nephew who was two years old. He observed that Lucy took great care with the little guy and that impressed him. It was obvious that she would be a fantastic mum to his children and we all now know that to be true! We often times do not think about the possible challenges that may come along when the kiddos start to bake in the oven. You know what I mean? There can be complications then and, of course, during their birth. Lucy would face her fair share of difficulties to say the least. She and Mike would face the difficulties together and the whole thing would begin four years after they first met.
Building Their Little Team
It was then that Lucy found herself pregnant with their first child. She did not get off to a very good start as she found herself to be extremely sick. This would be a sign of things to come. Difficulties in her pregnancies. At the time, she was working full-time as a nurse in a baby nursery and she was working ten hours plus per day on her feet. Mike was also working full-time as a builder and they did not yet have a home of their own together. They needed to move quickly. Her sickness would die down and her pregnancy would begin to go smoothly. That is until the 34th week. Lucy started feeling very tired and the doctor signed her off from work so that she could rest. A day after finishing work, she went into premature labor. Their baby boy had decided that he couldn’t wait any longer and he needed to make his exit six weeks early. Lucy told me that as a mother to be for the first time, she was absolutely terrified. This thinking that their baby was going to die. That feeling was probably aided by the fact that the labor room was packed full of medical professionals. The outcome, however, would be challenging but overall positive!
Their little man, which they named Danny (after the song Danny Boy) was born March the 13th of 2007. He weighed 5 pounds and 12 ounces. He was kind of a little guy but that was to be expected with his early entrance into family life. They were lovingly referring to him as their “little bag of bones Danny”. Obviously he was very adorable. So perfect and complete. He had all his fingers and toes plus, he was covered in brand new baby skin. Lucy had her first child and Mike had a son! Football! Oh yes. You just know that dad was thinking about that! No one ever forgets that first child being born and for that reason, Danny will always be special! Danny would struggle to feed and would end up dropping all the way down to five pounds even. Lucy said that he was the tiniest little thing they had ever seen. The staff at the hospital had to insert a feeding tube that went from inside his nose and traveled to his tummy. In addition, they gave him light therapy. Lucy described the love that she and Mike had for little Danny, “The love we felt for him was so powerful. I spent days crying, wishing that I could make him better and take his pain away.”
Things would continue to improve though for Danny. He would get stronger with each passing day and at last, the doctors said that he could go home with mom and dad. The only problem was that because of Danny’s early arrival, they had no home to go to. The final details on the house that they were due to buy had not been finished. Mum and dad to the rescue! They brought little Danny home with them to Lucy’s mum and dad’s until they were finally able to move into their new family home. I am quite sure that they were more than welcome there. Danny would continue to face challenges with his feeding as he had severe reflux issues. He could not keep his feeds down after eating. He was, however, a very happy baby. Lucy said that, much like herself, he was a bit of a late night party animal, Danny liked to stay up all night and sleep during the day. Like any new parent that is adjusting to having a new baby, Lucy thought that life was a little crazy back then. However, the challenges that they had faced up to that point were only the beginning. There was much more that lay ahead.
Life moved forward for this family of three. Mike was working lots of hours as a builder and he had started playing football again on the weekends. They were enjoying being in their new home and Lucy was caring for little Danny. Things were good but Lucy was noticing that she was tired all the time. She felt, at the time, that being tired was just part of being a new mom and it never occurred to her that something else could be going on. It was only six months since Danny was born but Mike and Lucy were given the news that she was pregnant again. This is how the news was received by the young couple, “We were over the moon that our children would be so close in age and even more so when we found out we would be having another boy.” Another boy and a playmate for Danny. Another little football player perhaps. Lucy said that she sailed through the pregnancy. That is until the completion of the 31st week. It was at that time that she felt like something wasn’t right. Lucy went straight to the hospital and it was confirmed by doctors that she was in labor. This time it was nine weeks before the baby was due to be born! Oh my gosh! Doctors gave her two options. The first one was to continue with the labor and deliver the baby. Delivering him this early in the pregnancy would bring a risk of death or other issues for the baby. The second option was to use drugs to stop the labor. They chose to try to stop the labor and thankfully it worked. Their newest little man had hung in there for thirty-nine weeks. He was born one week before he was due to make his appearance. It was on June the 17th of 2008 that baby Michael came into this world to join his family.
They named him after his dad but Mike and Lucy would begin to call him Micky. The name really stuck to him and he has been called by that name until this day. Micky weighed in at 7 pounds and 11 ounces. It was, go figure, a bit of a rough delivery. Micky was a bit battered and bruised, but otherwise, he was absolutely perfect in every way. There is something to be said for staying in your place as one should. Because he was so good, Micky got to go home with his family the very next day. This was very different from Mike and Lucy’s first experience and they were so happy that things went the way that they did. They were home and had two little boys! Lucy stated that once they returned home that the real fun started to take place. These two little guys were only fifteen months apart and as Lucy would put it, she “no longer knew the difference between night and day”. She would also admit that she loved every minute of it. Just as Mike had observed with his little nephew, Lucy was good at caring for kids. She loved it! Not only that but Mike had two sons. He was overjoyed! With the exception of having the same reflux issues that Danny had as a baby, Micky was the perfect baby boy. Things were really shaping up. Their boys were not only a blessing to Mike and Lucy but also to all of the extended family and their friends as well.
What do you think Mike did as the boys continued to grow? What else would he do but teach them about football! He taught them everything that he could about the sport that he loved. Both of his sons started walking just before their first Birthdays. Soon after, sounds could be heard coming from the garden as the boys ran after their father. With the the football being kicked you could hear the word “GOAL!!!” being sounded. Lucy said that she could remember how lucky that she felt at the time. She had Mike in her life and he was wonderful guy. She had two beautiful sons. Her feelings towards how life was at this time went like this, “Life was full of fun and laughter and it was more than I could of ever dreamed of.” They both had career goals and a nice place to live. Along with all of this, they had plans to increase the size of their family. First though, Lucy would return to work as Micky turned one. Life was good and it continued on for this family. One thing was for certain. This couple would have no issues with infertility. Just before Micky turned two years old, Mike and Lucy received the word that she was pregnant once again. Things would move along in the pregnancy and at twenty weeks they received the word that they were going to have another boy. Lucy said that it began to become a running joke that they were going to have their own football team at their house. Who could argue that things were starting to look that way. They were so happy with this news. They wanted to have a large family and they were going to have another son!
A Prince and a Princess Unaware
As was the pattern for Lucy’s pregnancies, so it was with this next one. Things would go well for the first thirty-four weeks. Once again Lucy would go into premature labor. I wonder what her thoughts were at this time. Something like, “here we go again!” They were given the same option as before and that was to use the drug that is necessary to stop the labor. They went for it as it had worked well the previous time. It did work well only not without complications. Lucy said that all was fine with the baby but she herself had become unwell. She had to stay at the hospital for a few days after receiving the drug but would recover and return home. It was, however, after a few days that that she began to feel unwell again and she had to return. After receiving a few scans, it was decided that they should go ahead and deliver the baby. Their little baby boy was born four weeks early and he weighed 6 pounds and 5 ounces. This took place on the 13th of January of the year 2011. Ollie was born. A prince unaware.
It never ceases to amaze me how mothers remember things about their children that are so specific. Of course Birthdates but sometimes also specific times and exact weights. Mums are like that. They remember specific things that happened with each child and feelings that were felt. I used the following as my opening quote but it fits perfectly here and it is so worth repeating. From Lucy, “To this day I remember the nurse placing this warm body onto my chest. I looked into his eyes and instantly felt an incredible bond. As quickly as this happened however our little boy who we named Ollie, our Olliebobs was taken off of me. I was not well and was rushed into theatre. A few hours later, and thankfully, I found myself holding this precious baby in my arms again. This time I had two more bundles of joy jumping on my bed desperate to meet the new edition. In that moment I didn't feel like life could get any better.” Due to issues with Lucy’s health, she and Olliebobs had to remain in the hospital for an additional four days before they brought him home. Lucy said that she was thankful for the time that she had with Ollie in the hospital. Four days for time spent just with Ollie. With each one of her boys, there was difficulty but the results made what she would have to go through so worth it. Three boys! She was definitely at this point, well outnumbered, but she was okay with that! Lucy said that even at the very young age that they were, Danny and Micky took very good care of their mum after her return home. She went on to say that they gave the best kisses and warmest cuddles. How wonderful these guys were as they continued to grow. They were and still are, great big brothers and man! Can they kick a football or what?
Mike was continuing to work hard for his family and he had started working towards setting up his own business. As stated before, he felt that it would be possible for his boys to join him in the business one day if they so desired. That would include their new little man that they named Ollie! Lucy continued to care for Ollie and the others but also added to that the pursuit of another degree from the university. This one in Care and Education. She, along with Mike, was driven towards achieving their goals. They had three little boys and yet Lucy continued with her education. It was her third and last year of her degree. She said that she spent that last year juggling all her responsibilities. This included night feeds along with assessments for school. This not to mention potty training and all the other things that mums do for their kids. Just amazing! That is enough to wear anyone out but as Lucy began to get tired she knew something was up. It came as a complete surprise this time but she again received the news that she was pregnant. Lucy said that her and Mike felt a little nervous this time. After all, their boys were still so young. Soon, their nervousness turned to excitement over the fact that they were going to have another baby in the house. They loved kids and couldn’t wait. Lucy said that they were well aware of the need to keep a close eye on this pregnancy, given her prior history. They had a lot of extra scans done of this baby and the bond with this little one was intensified by having them done. Lucy put their feeling in this way, “We had lots of extra scans and bonded with our little baby even before it was born. We watched this little wiggle on the screen get bigger and bigger each week, waving its arms and kicking its feet! It was an amazing experience.”
Twenty-Four weeks into Lucy’s pregnancy they received the news that their next baby would be a girl. With that, the family’s aspirations for raising up their own little football team were gone forever. There would be no team but they were having a GIRL and they were so very excited!! The excitement spread to all three boys and as a family, they were “over the moon!” A daughter and a little sister. Everyone was so happy! The joy, however, was short lived as only three weeks later complications set in. It was at that time that Lucy started feeling unwell again. This happened while out shopping and panic hit everyone. Lucy said that Mike, being the person that he is, was absolutely amazing. He kept the boys calm while getting in contact with Lucy’s mum who took her to the hospital. It was confirmed while there that Lucy was yet again in premature labor. Oh my gosh! This time it was 13 weeks before their little girl was supposed to be delivered. As Mike was rushing back to the hospital, Lucy received some very unsettling information. She was informed that if she was to deliver their baby at this stage, the baby would most likely die. She was again offered the drug that had been used twice now on her. She of course said yes! This time, however, there was an addition complication. Things went drastically wrong. Once given the drug Lucy was sent into anaphylactic shock. That being a life threatening allergic reaction. The hospital room was filled with medical staff who worked to save Lucy’s life. As Mike arrived, he stepped into a hospital room that looked like a scene from a movie. Lucy said that, like always, Mike was her rock as he brought comfort and helped her through her fear! The doctors and nurses managed to stabilize Lucy and her yet to be born girl managed to stay put. Over the next few days Lucy was ordered to bedrest. The doctors warned her that her baby could be born at any time and said that she needed to stay in rest. Lucy said that the days would turn into weeks and their unborn daughter stayed put. It was then that Lucy was allowed to return home with instructions to not move.
Lucy stated that her ability to remain still enough with three little boys running around was nothing short of a miracle. Their baby girl hung on for thirty-eight weeks and it was then that she made her own little dramatic entrance into this world. It was an extremely difficult birth and their daughter had to be resuscitated. This was terrifying to Lucy. Her sister had accompanied her into the labor room this time. Lucy still remembers the look of terror that was on her sister’s face and said that she will for the rest of her life. Lucy was not allowed to hold her baby girl as she had been so used to with her sons. Instead, she was taken away. They took her from her mum for an hour and while that doesn’t sound like a long time, to Lucy “it felt like forever”. Lucy was in the theatre (labor room) and had not known where her baby girl was. All she knew was that Mike had taken off after her as their daughter was taken from the room by hospital staff. She would of course be returned to her mum and amazingly, the doctors informed Mike and Lucy that their daughter was perfect! I had quoted Lucy in the first blog that I did about this family concerning what she was feeling as she held her daughter for the first time. Here is what she had said, “Breathing in that amazing newborn smell, feeling that warm breath on your skin, counting them tiny little fingers and toes. We had just been handed our beautiful baby girl, after a complicated pregnancy, and nearly losing her during labor.” They were now a family of six as the final piece was delivered in the form of this most perfect little package. She was absolutely beautiful. Lucy had this to say about their daughter after her chaotic entrance into this world, “She lay there looking up at me and Mike completely oblivious to the drama which she had created. Little did we know that this would just be how our little girl would roll.”
They had known in advance what they would name each one of their boys before they were born. Things were different with their new princess whom they had not yet picked a name for. Instead they spent hours looking through names trying to decide what would be a fitting name for her. She was to them so perfect in appearance! Finally, the name that was as perfect as their little girl was chosen. Amelia Faith Jasmine. She had been born on the 4th of March in the year 2013. She weighed 6 pounds and 13 ounces. Lucy said that they had never seen a more beautiful baby. This was confirmed by the fact that medical staff was stopping in to see her. They knew about her dramatic entrance into the world and were amazed by how utterly perfect she was. It was at this point that Lucy felt that their life as a family was complete and she looked forward to all of the precious memories that would be formed. So much had taken place during all of her pregnancies but they had all made it through.
The Bonding of a Family
Lucy said that the boys fell in love with their new little sister the moment that they laid eyes on her. In fact, they promised that they would look after her no matter what. There was no jealousy, just brotherly love and kindness. She went on to say that her and Mike felt blessed, thinking that they had the perfect little family. The running joke that they would one day have a complete football team had been broken up by the appearance of little Amelia. However, there were still three boys that most likely would pick up their father’s passion for the sport. As they continued to grow, it became apparent that football would be the king sport at the Carroll home. Even though it was early, so many memories were already being formed. The possibilities for what the future might hold were endless. A family formed by two hard working people, three charming little men, and a little princess. Lucy described the atmosphere in the home so perfectly as the children continued to grow, “Our house was always full of laughter, with children running around and playing. You couldn't walk a foot without tripping over toys. So many things got broken as the boys kicked their footballs around. Danny would spend hours training Ollie up to be just as good at football as he was. To this day I remember his shouting "Ollie heads, Ollie kick, Heads again Ollie. Yes that's it, yay, you have scored!" The cheers and the excitement that warmed our hearts.”
Their life together was a beautiful story in the making. In fact, it was already beautiful. Every family faces problems along the way. That is always to be expected. Mike and Lucy had faced some significant challenges but had made it through. They had their family in place and the future looked nothing but bright. They had many a conversation about what the future might look like as they talked about all that they looked forward to as parents. It was the type of atmosphere that dreams are made of. In the back of their mind, and in the forefront of their conversations, were all the life events that one would think of for all of their children. Neither of them had any idea what the future would really hold, or what additional challenges that would lay ahead. These were sweet times for them and their days were filled with joy and laughter. Lucy would say as much using the following words, “Without wishing the time again we often spoke about what they would be like as they grew older. Three brothers and a little sister. We laughed wondering if Amelia would love or hate having her brothers looking out for her, making sure no boys could get near.” With only a couple of exceptions, the families whose stories I have shared had no idea that a wretched disease such as Battens even existed. Without any warning, life at the Carroll residence would soon change forever. What one would normally expect, was not to be. Lucy conveyed that truth with the following words, “Little did we know that the future which we dreamed of would never be.....”
Mike and Lucy had no idea what type of a prince was in their midst but there was something truly special with this little man they named Ollie. The bond between him and his family was instantaneous and special. Gosh, he was cute. A future heart throb for the girls and a current one for his family. While things seemed like they couldn’t get any better, they in fact had. The entire family was elated with the appearance of a princess into the household. Although she gave everyone quite a scare, she had arrived into their midst and she was so completely perfect. From the time that Amelia arrived, all were instantly in love with her. This was for good reason and one that could clearly be seen. From the moment she began to smile, her smile became infectious. They thrived as a family and life was so good. The first eighteen months had passed since Mike and Lucy’s family was completed and the future looked so bright. Mike was working hard and was in the process of building his business. The same tenacity and work ethic that had made him great on the football field also made him great at work and at being his family’s provider. Lucy had finished her education and she was poised to one day return to work. For now, the house was so busy with four children happily involved in all their activities. The king of which was football. The sounds of footballs being kicked were sometimes followed by things breaking as the sport was practiced inside as well as outdoors.
Somehow, mum and dad didn’t always mind as much as one might expect. After all, the kids were doing something that was loved by all. You couldn’t walk very far without tripping over a toy or two. Kids have to have toys you know! There was laughter. Plenty of laughter and fun. No doubt, there were outings together to places that included grand mum’s house. Accompanied with all of this were thoughts of what the future would hold for all four of their children. Sporting and school events. Summer and winter vacations together. Perhaps Ballet recitals and other sweet things for the princess in the house. Graduations and successful careers. Weddings and a sprawling family as the size increased with grandkids. The list goes on.
It is too often that things don’t go as planned or as one might think they should. Troubles come our way. Things we would never expect to happen do happen and that sometimes brings devastation.That is the way it is with Batten Disease. Life already has it’s share of difficulties and we deal with them as they come to us. A rare disease such as Battens brings with it concerns that are on an entirely different level. Mike and Lucy had no idea how different of a course their lives as parents would take. Almost all at once they found themselves being part of a community, worldwide, that they didn’t even know existed. This part of their story will not only explain what would happen but also, how they would handle the unforeseen. Things would change forever as problems began to develop with their prince they named Ollie. Lucy stated that it was around the age of three that they noticed some things in Ollie that caused concern. One thing was that he had some delay in the development of his speech. This had occurred in Ollie’s older brother Micky as well, however, Micky had caught up with the other kids when he started school. When they mentioned Ollie’s delayed speech to health professionals they felt that he would catch up just like his older brother did. While there, they also mentioned the fact that Ollie was a bit clumsy but as you might guess, the doctors felt that Ollie was just being a boy. Ollie was attending preschool at the time and he just loved it. He was hitting all of his milestones, with the exception of the delayed speech and potty training had been no problem. Mike and Lucy must have been relieved by the fact that the doctors felt everything was just fine. That was until the month of September 2014. Ollie had his first seizure.
The day had been very normal and Ollie had attended his preschool. He had done well that day and he was happy when he was picked up. As they had returned home, Lucy had noticed that Ollie felt warm and he had a temperature when checked. Her concern for him was great enough that she brought him to get checked out by medical professionals. It was found that Ollie had an ear infection and so antibiotics were prescribed as the family was sent on their way. Ollie returned to running around with his brothers after receiving a dose of the medication and all seemed to be fine again. It was later that night, while bathing, that trouble would strike. It was then that Ollie began to have a seizure. Lucy stated that it was the most terrifying thing that they had ever witnessed. Ollie actually slid under the water while seizing. Fortunately, Lucy was close by and screamed for Mike to come quickly as she pulled Ollie out of the water. Mike flew into the room as Ollie continued to seize. Lucy said that it was as if time had stood still while all of this was happening and who could argue with that. Mike continued to care for Ollie as Lucy called an ambulance. The seizing stopped in a few moments as they waited, but as it did, Ollie stopped breathing. What must have been part of Mike’s training as a former lifeguard kicked in and he started to perform CPR on his very own son. That is amazing calm in the midst of chaos.
Lucy said that flashbacks from that day still haunt them. She went on to describe to me what she had seen happen with Danny and Micky as all of this was happening, “I can remember looking up from Ollie, who was laying on the floor, into the eyes of Danny and Micky. They stood in the doorway watching and pure fear filled their young eyes. But even so, they knew what to do as they picked up Amelia who was still a baby. They flew out of the door to our friends next door.” By Mike’s quick actions, Ollie began to breathe again. Of course, Ollie would get checked out by doctors who came to the conclusion that he had experienced what is called a febrile convulsion or seizure. This is a type of seizure that is associated with an elevated temperature. Mike and Lucy were assured that these are common in children and that 9 out of 10 times, they are never repeated. Ollie was discharged from the hospital the next day, much to the families relief. Their little Olliebobs was okay! It was, however, only hours after returning home that Ollie would have another seizure. According to Lucy, they were told by the hospital that it was a convulsion related to Ollie’s infection. That, though, was not to be the case. These seizures were not isolated but rather would become part of a larger problem. Over the next few weeks, Ollie began to have more and more seizures.
It is only fair in considering that Batten Disease is rare, that it may not be diagnosed quickly in all cases. It should, however, be known of in every place that medical science has it’s reach. Mike and Lucy were devastated with the diagnosis of Generalized Epilepsy. Almost all at once, the plans that they had made were interrupted. At least as they applied to Ollie. Questions arose. Would he be able to drive a car or even function normally as he got older. They were at this point, optimistic overall and felt that Ollie’s condition could be handled through medication. It would control the seizures and he could lead a close to normal life. It should come as no surprise that Ollie was referred to a neurologist because of the seizures. Lots of questions were asked about Ollie’s development and it was at that point that Mike and Lucy brought up Ollie’s issues with his speech and his clumsiness. Obviously this doctor knew the questions that needed to be asked. As a result of the information that she gathered from Mike and Lucy, it was decided that more testing needed to be performed. A lot of testing was performed. This included EEGs, CT scans, and MRI scans. Lucy said that it was as a result of the MRI performed that they learned Ollie’s cerebellum was smaller than it should be for a child his age. This is commonly seen in children that suffer from Batten Disease. I don’t even think they knew the disease existed at this point. Lucy stated that it is this part of the brain that controls areas of development such as balance. This was the cause of Ollie’s frequent falls. It was at this point that it really started to appear that there was something going on besides regular Epilepsy. Mike and Lucy were really starting to worry, and for good reason. The doctors wanted more testing performed. Lucy would tell me that Ollie was tested for a group of conditions through blood testing. Mike and Lucy did a Google search with each one that they learned about, checking Ollie’s symptoms against what they learned. They crossed each one off as Ollie’s symptoms didn’t match. Within a few weeks, they received a call asking them to bring Ollie in for a consultation a couple of days from then. An appointment would be made for the middle of February, 2015.
The Day Not Forgotten
Lucy said that she felt relieved at that time, thinking that it couldn’t be bad news coming. This, she felt because they wanted them to bring Ollie in with them. It was, however, as soon as they arrived that they felt something to be very wrong. This because the appointments room was completely empty. This gave them a sinking feeling as that part of the hospital is never empty! It was now though, with the exception of the staff. Lucy said that they had never been to this particular part of the hospital before and she had made note of the appearance of it. It was very white and clean looking. She felt that the area had a funny feeling about it. Like a feeling of sadness. As they entered the doctors room, they were greeted by a number of health professionals and they would know what they were facing in a matter of minutes. Lucy described the entire seen with the following words, “The date the 13th of February 2015. A day that will stay with us forever. I can remember the color of the walls, even the smell. As we sat in that small room with Ollie on his daddy’s knee we were told that our child has Battens Disease, that there is no cure and that life expectancy is between six and twelve years. Ollie was just four years old! Our world fell apart in that moment. We were told Battens Disease was so rare that they had never come across a child with it before.” Everytime that I have done one of these stories, a dramatic picture is painted by the words given to me by the parents. This, because it is so very difficult for anyone to receive this kind of news. It doesn’t matter how strong of a person you are because no news could be more difficult than this to receive. Lucy’s own words paint the scene perfectly, “Our little boy was dying! I remember looking across at Ollie in disbelief, watching him looking up at his daddy. Smiling, wiping his father's tears away. We asked the doctors where else there was treatment. There had to be something, somewhere in the world. We were told there was none.”
Mike and Lucy were given information about Batten Disease. Then, they were told to take their son home and and enjoy him for as long as they could. They were sent on their way, that is all that there was to it. Lucy stated that the next few days were a mix of pain, sadness, disbelief, and anger. They kept reading the symptoms and felt that Ollie’s symptoms did not match up with them. They began to research the disease, thinking that they couldn’t give up on their son. Mike and Lucy felt that they had been let down by the doctors. As they worked through their grief, they pressed on in search for help with Ollie. Through their search, they found BDFA (Batten Disease Family Association) and reached out to them. They also reached out to families in the United States that were already dealing with the disease. The first person that Lucy had made contact with had a beautiful daughter that also had CLN2 Battens. Her remarks about that initial conversation are worth noting, “That conversation will never leave me. Through this father’s own pain he somehow found the strength to support us. This is something we will forever be grateful for.” This is one of the things that I have observed to be so wonderful concerning the Batten community. That would be the amount of support that these parents give to one another. It is truly something special. Only they can know what they as Batten parents are feeling.
It was a few weeks after Ollie’s diagnosis that Lucy started a Facebook page for Ollie. She had started the page initially to keep family and friends informed about Ollie and his struggle. As a family, Mike and Lucy had no idea, at the time, what kind of impact they would have on the Batten community there in the UK and elsewhere through Ollie’s Army. For that matter, they had no idea how their own lives, and the journey they would take as a family, would be impacted by the other families they would meet. What started as only a way to keep family informed would eventually become so much more. The awareness that would be raised and the people that they would meet is very worth mentioning. The help that they would seek for their own children would also be a help to others with Batten Disease. Ollie’s own need for help would impact other people’s lives. This would all happen as Ollie’s journey continued. Eventually, through their own search, Mike and Lucy found a specialist in London who they thought could help. They made an appointment to get in as early as possible. Lucy said that the doctor could not believe her eyes after seeing Ollie for the first time. This because, at that time, she had never met a child with Batten Disease that was as well as Ollie was. She was used to seeing children that are farther along in the disease by the time they are diagnosed.
Batten Disease is considered to be rare. While there, they would learn that Battens was transferred genetically. Therefore, their other three children had a 50/50 chance of also having it. Mike and Lucy decided to have all three of Ollie’s siblings tested as early as possible. Already dealing with heartache of what had befallen the couple’s darling Ollie, they would be given disheartening news. They were relieved to know that neither Danny nor Micky had the disease. It was, however, revealed that little Amelia also had CLN2 Battens and would one day start showing symptoms. Their princess! The one that they had been overjoyed to receive. She had made her own dramatic entrance into the world and she was just getting started with a new challenge for this family. Lucy described what it was like immediately after receiving the news from the medical professionals, “For the second time our world fell apart as we learnt our beautiful princess also had Batten Disease. Amelia had only just turned two, she had been hitting all her milestones, to look at her you would never know. Walking out to our boys in the waiting room, trying to hold it together and act normal has to be one of the hardest things we have ever had to do.”
That was on the 30th of March, weeks after Ollie’s diagnoses. They received the news that their princess also had Batten Disease. Lucy further described the mood within the house as they returned home to digest what they had just heard. “For days all we did is cry. I could not stop being sick due to shock whereas Mike locked himself away from everyone.” This went on for a few days and then Lucy said that they pulled themselves together. I have read similar things from other parents. The shock and devastation eventually give way to determination. This, even though the heartache remains constant. In her own words, “.....there was no way we were going to let this horrific disease take our children without a fight.” So this all raises a couple of questions. How do you handle adversity such as this? What do you do when two of your children, or even just one, is diagnosed with a horrific disease that you didn’t even know existed. Everyone handles things differently. I would think that most every parent is determined to provide the best possible care and also to fight off this monster of a disease as best they can. Some do so quietly as a family and that is perfectly fine. Others share their child’s journey on social media. They want moral and other kinds of support from outside They want people to know who their child is and what the journey is like. They don’t want their kids to be forgotten! Still, others know the importance of spreading awareness about this disease. Much progress has been made but this is no time to quit. The difference between knowing and not knowing is profound. Especially as it relates to the medical community. People in public office need to be aware, as well as, the general public. And then, there are others that take up a leadership role within the community. They do things, not only for their own child’s benefit but also for the benefit of others. This may come from taking advantage of opportunities that present themselves. It can also come from intentionally seeking to take an active role. I believe that almost all of the above applies for Mike and Lucy. They have become very public in their battle against Batten Disease and it has benefited others as well as their own family.
It all began as they searched for help with Ollie and Amelia. Lucy said that they had found a clinical trial that involves Gene Replacement Therapy. Both Ollie and Amelia were accepted, but just as they were, Mike and Lucy learned of another trial that was being done. This one was taking place at the Great Ormand Street Hospital (GOSH) in London. The couple researched the trial and found out that it involves replacing the enzyme that was missing in Ollie and Amelia’s brain. The program was creating incredible results. The only problem was that the trial was closed. Ollie and Amelia met all the criteria for acceptance but the trial was simply closed. Pleading with the doctors was of no use as they were powerless to help. How absolutely frustrating. Grieving over the recent news that two of their children were terminal. Knowing that there was something that could extend their little lives with the hope that a cure would be found. And yet, entrance into the trial was closed. That is when Mike and Lucy reached out to the Batten Disease Family Association (BDFA). With the help of BDFA, they worked towards convincing the pharmaceutical company (BioMarine USA) to grant Ollie and Amelia access to the trial on the basis of compassionate use. Lucy said that it took months and months of midnight calls to America, emails back and forth, bringing health professionals on board. Finally, with a lot of determined effort they were able to organize a meeting with the company and it would be held in Paris. They traveled there, along with representatives from BDFA, to meet with company representatives and others from around the world. The result of this meeting is that the company opened up five places at each trial centre across the planet. That, my friends, is significant and a product of great leadership. It also comes from parents that want the best for their children and will stop at nothing to get results. Lucy put into words their feelings of gratitude towards those that made this all possible, “We cried upon receiving this news. The BDFA and health professionals worked tirelessly to enable this to happen and we will never be able to thank them enough for taking on our pleas for help and support for our two children.”
Making Their Case
Even with this decision, the company still had to be convinced that Ollie and Amelia met all of their criteria for the trial. Finally, after many assessments and sleepless nights, both of their darling children were excepted and the process was begun. Lucy stated that her and Mike were so thankful that both of their children were given a lifeline of hope. They also felt uplifted, knowing that their efforts had helped in giving this opportunity to other children across the globe. Ollie had brain surgery in November of 2016 to have a port inserted into his brain. This, so that he could receive the chemical that replaces the missing enzyme. Amelia would join her big brother at GOSH in February of 2017. The infusions take four hours and the family travels from Manchester to London every two weeks. This, obviously, takes a strong commitment as they juggle everything that life throws their way. The results are so worth it though. Lucy stated that they would have traveled to the other side of the world for their kids to receive this treatment. Both Ollie and Amelia are responding well to it. Sadly, Ollie had progressed further into the disease as they worked on getting their children accepted. He could no longer walk unaided by the time the he started the therapy and he was only able to say a few single words. There is no doubt that the enzyme replacement has had a major impact on increasing Ollie’s longevity and general health. The treatment has stabilized the disease in him. He no longer experiences the pain that he was having and his seizures are well controlled. He has only had one seizure in the last 16 months compared to the hundreds he experienced before he began the therapy. Ollie goes to school and enjoys swimming with his daddy. He is a doll of a young man and a genuine prince!
It needs to be noted that what you see with Ollie and Amelia is a contrast between early diagnosis and treatment, and having to wait. Amelia is thriving on the treatment because her Battens was discovered so early and the therapy was started right away. She, in fact, is one of the youngest children to be receiving the the treatment. She started the treatment so early that the only sign of the disease was a single seizure and that was attributed to sickness. Lucy describes the exceptional quality of Amelia’s life. This even though she has Battens, “As far as we are aware Amelia is the only child in the world who should have symptoms of Batten Disease but doesn't. Instead she is thriving, she goes to mainstream school, where she plays and interacts with her friends, she enjoys mark making and phonic lessons. Amelia can learn new information and retain it. She can run, dance, Juno and sing. These are all abilities which she should have lost a long time ago.” Lucy goes on to say that Amelia is learning to count, write her name, and ride a bike. Just like any other child. Mike and Lucy were extremely happy in what they were seeing in both of their Batten children. The enzyme replacement therapy had produced positive results in both of them and so they were excited by the news that the drug being used was approved by both the FDA and the EMA. In Lucy’s own words, they were “over the moon.” Once this happened, however, a new fight would loom on the horizon.
Mike and Lucy would remain involved and Ollie’s Army would continue to become more than a name. As mentioned before, the Facebook page named after Ollie was originally set up to keep family and friends informed but it quickly became much more. Major awareness was created through Ollie’s Army and some of that came with the help of some well known celebrities. I bet that, like the rest of us, they were taken by the appearance of these two attractive children and their family. Fundraising events have been held in the local community and the results are absolutely amazing to me. While a lot of the funds raised have gone towards Ollie and Amelia’s needs, a lot has been done for the fight against Battens in general. A big example happened recently. Ollie’s Army was able to raise and donate £30,000 to help in the research of therapy for the eyesight of children with CLN2 Batten Disease. In case you are curious, I did the conversion and that amount is over forty-two thousand in US dollars. This family is aware of the fact that this research comes too late for Ollie. However, it could help Amelia. They have also done this in the hopes that it will help others in the future. That is so commendable! Fundraising for their children has helped fund equipment and adaptive changes that were made to their home. Some of the funds have helped with the expenses related to the treatment and also help with making precious memories. They have also used funds to help support BDFA in their efforts as well.
An Army Like None Other
There are so many very kind people that have helped in their effort through donations and the giving of their time. One example is the help that they received with the building of an extension to there home for Ollie. Mike was able to receive the help of others in the construction and it became a real community project. This included the installation of a lift and a hoist for Ollie. Lucy describe the feelings of gratitude that she had at the time, “It was an extremely emotional time adding all this equipment to our home that we needed but did not want to accept. This was made easier by the people around us supporting us every step of the way. We even had the children from our street coming to help it was so heartwarming.”
Ollie’s Army holds a Golf Day and Ball each year and it takes an incredible amount of help from others. Their are some really incredible ladies that do this even while working full-time jobs. There is also a Family Fun Day held each year. The event which, includes a football tournament, hosted over a thousand people this last year. This included a few famous faces. Lucy said that all of this would not be possible without the help of their fantastic friends who give of their time. A network of amazing people has entered the lives of the Carroll family. This all, no doubt, makes something that would be almost unbearable, a lot better. Lucy would also tell me that people that were complete strangers to them have reached out to their family, wanting to help with Ollie’s Army. She said that these people have no idea how much their kindness means to Mike, Lucy, and their kids. All of this has helped them get through some very difficult times. The beautiful thing is that as this family is helped, they help others in the process through their own actions. Lucy summarizes the entire experience in her own words, “Ollie's Army was created to raise awareness of this horrific, rare disease. We have met so many incredible people throughout our journey. It's made us appreciate life and helped us to understand that there are so many people having to battle battles everyday.”
There are some notable people that this family has met along the way. Now, I have referred to Mike, Lucy, and their kids as my royal family and they will always be that. (They are every bit as attractive of a couple as those that have belonged to the British Monarchy). As a family, they have been in the presence of royalty. That would be so by being in the presence of Prince Harry. I know that for them, he turned out to be a really neat guy. According to Lucy, Prince Harry first met Ollie at something called the Wellchild awards. You see, Ollie had been nominated for an award as being the most inspirational child. Well, go figure. He won! What happened there was so sweet. Lucy described the seen, “At the award ceremony Ollie met Prince Harry. As Prince Harry was knelt down speaking to Ollie, Ollie who could no longer walk or stand unaided used all of his strength to stand and hug Prince Harry. It was a magical moment which hit the headlines across the world.” That is amazing Ollie! It would be six months later that Prince Harry would stop in at GOSH to see Ollie and Amelia. What a wonderful thing to do. I think that I am a fan of Prince Harry now. From an ocean and a continent away!
Ollie’s parents had been fans of Ed Sheeran, the musical entertainer, for some time. They passed on their love for his singing ability to Ollie. Ollie loves Ed’s music and he would sing along to his songs. That is until he lost his ability to do so. I know that Ollie’s face still beams with a huge smile when he hears Ed’s music. Ed is not only a gifted musician and singer, but also a great entertainer and his music has seen Ollie through some very difficult times. Ollie’s love for Ed’s music was revealed to Ed through a social media campaign set up by Lucy’s sister Emily. This got Ed’s attention and the entire family was invited backstage to meet Ed while he was performing a concert in Manchester. I can only imagine what a treat that had to have been for the entire family but especially for Ollie. I bet that Ed had really endeared himself to Mike and Lucy for having done this for them. I am also thinking that meeting this family was really meaningful to Ed and I bet he was inspired to be even more of a humanitarian. What a truly neat experience for all involved.
Mike and Lucy recently had the opportunity to appear on the largest morning show in the UK, which is called This Morning. While there for the appearance, they had the rare opportunity to meet the Prime Minister of the United kingdom. Theresa May was also appearing on the show that day and it gave the couple the opportunity to speak with her. They shared with her about the disease that confronted their children and the treatment that they were receiving. Mike and Lucy really appreciated the time that they were given with the Prime Minister. Oh, and why was the couple invited onto the show? That was to discuss the impact of the recent decision by NICE (The National Institute for Health and Care Excellence) to not recommend funding by the National Health Service (NHS) for the treatment that Ollie and Amelia are receiving. This doesn’t only affect them, but also the others that are receiving the treatment. This is the battle I referred to that was looming and it also affects children who are waiting to start the therapy but can’t because of the decision.
A Life Unexpected
Mike and Lucy’s days are busy. There are all of the normal responsibilities that come along with having a family. Mike’s work as a builder and Lucy’s work at home. There are two big brothers in Danny and Micky that are involved in all the normal activities. This includes school and football of course! They have to be the best big brothers because they have two younger siblings that require a lot of attention. There is also a princess in the house and a princess always requires a lot of attention. Especially when yours is a Batten Princess that is undergoing Enzyme Replacement Therapy. Her little self goes to school and does all the “normal” things because the therapy is working! They also have a very handsome young prince at their house. There is a very special bond between him and his family and their world revolves around him. That is because it has to. He is a Batten Warrior and he needs help as he fights. He is a royal rockstar! There are appointments to keep and that is not to mention a trip to London every two weeks. There is always messages and emails to answer. Planning of events and daily entries in Ollie’s Facebook page. Awareness, awareness, awareness! The list goes on and on. Oh, and maybe there is a certain blogger that needs more info to include in his next story. Even with all of this going on, they remain in the lead alongside BDFA in trying to make sure that that Enzyme Replacement Therapy remains funded.
I had stated at the beginning that I had written a short blog about the Carrol family when I had first started writing. The following quotes what was written by me in my first blog about this family. It was named “My Kind of Royalty” and the words that I had written still stand true. I know so much more about Ollie and Amelia’s journey, and Batten Disease for that matter, than when I first started. The more that I know and observe about this family, the more impressed I am. They have remained accessible to me even with everything that they have going on. Here is what I stated at that time,
“And now let me tell you about an entire family that has become royalty to me. There have been several famous couples that have been showcased by the Royal Family over the years. In my humble opinion there are none that have anything appearance wise on the couple that is Mike Carroll and Lucy Faith. They are both very attractive people. When an attractive couple decides to have a family that usually means that their children will be attractive as well. It is easy to see that is in fact the case. Ollie and Amelia and their other two boys are all very nice looking indeed. Adorable is more the word that I think of when looking at all the pics. Prince Ollie and Princess Amelia are among the many children that have become the face of Batten Disease.”
Here is more of what I had say at that time, “I can only imagine that Mike and Lucy would prefer that this guy from Oregon USA didn't even know who they are. Like any other couple, they just wanted to be a regular family. Raising their children in the safety of their home. Sharing in the experience of seeing each child grow and develop into adulthood. They just looked forward to seeing each one achieve success individually as they grow together in the bond of family and tradition.”
Isn’t that what everybody wants in a family? Things do not always go the way we want though. What do you do when problems arise? How do you respond? I believe that this couple, this family, is a shining example of how to handle adversity. I know that they would give anything to have all four of their children healthy and whole. Mike and Lucy would probably prefer that they didn’t know what Batten Disease is on such a personal level. However, in the face of adversity, they are giving this their all. Aiding in awareness, funding, and research as they battle Batten Disease. Maximum effort with real class! There are so many others in the Batten community that I also have a profound amount of respect for. Yes, it is a tragedy anytime that someone is told that their child has a disease for which there is no cure. However, the details of the undying love and tender care that take place are without equal in beauty. This family will forever be royal to me because of all they have done in the battle against Battens. It is also true that within their home resides a prince and a princess. What once was my conclusion by appearances, is now very evident through fact. Forever Royal - The Final version.
Blogger and Advocate
This blog article was originally done in two parts back in 2018. I learn new things as I continue to write these stories and I decided that it was best to make Forever Royal a one piece story with subtitles. In doing so, I have taken out things that I considered to be just fillers (Me stuff) and have made it all about Ollie and Amelia, as well as, their entire family. That is the way that it should be. Right?
The Carroll family is amazing to me. They have done everything in their power to bring about change and greater awareness when it comes to CLN2 Batten Disease. They play a big part in the fight to get Enzyme Replacement Therapy approved and funded by the National Health Service (NHS) in the UK. I wish them, and all others, in this battle the greatest success. It is this writers opinion that reversing the decision to NOT fund the treatment for children with CLN2 is the right thing to do.
Highlighting a previous blog that might interest you:
Journey Unexpected - The Rich Family
One child in a family with a rare disease is a challenge. What if there is two? Heartbreak multiplied you pick up the pieces and will yourself to do your very best. A love that is profound and a bond that is stronger than any other is formed. Two little beauties in one family is two, too many but you seek to make a difference! A journey unexpected...