“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.
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