“Looking at Nicole that night when we got home, sitting in her room. Surrounded by her little princess dolls, with fairy lights on and Disney bedtime music softly playing in the background, I cried like I had never cried before. It was a sickening feeling to look at our little sweetheart and to know that she had no idea what she had and how her life was to be. It was absolutely heartbreaking.”
Batten Mam and Advocate
It can happen when I am reading something concerning a child that battles Batten disease, or it can come from a passing thought when I am driving. It might also happen when I am watching a YouTube video in preparation for writing a story. That is what took place today. I get moved by the details. Watching a younger sibling who has Batten disease as she helps her older sister to do something that she is now incapable of doing by herself. This while exhibiting the love that is there while she is doing so. These are the kinds of things that often move me in a big way. Writing is not something that I do full time. I actually work in the aviation field on components for helicopters that fight fires. I work in a shop in which I spend a lot of time with male co-workers and I do so for a lot of hours. I bring my laptop with me, using breaks and lunch to write or get organized to do so. Sometimes, I will have to stop typing as I put my thoughts into words. This is because I can feel myself getting worked up beyond the point where it is safe to continue. Am I somehow exhibiting a pathetic show of emotions as a male individual? Whatever your opinion might be, I can tell you that it is possible to be strong while at the same time, also being sensitive. You only have to allow yourself to become vulnerable. Kids that battle a rare disease like Batten are to me the most special. Others might agree but first, they have to be shown some things.
A person first has to be made aware. Most people won’t even think about kids that battle a rare disease. Many might be reminded that such a thing exists only to shrug their shoulders and move on. After all, the plight of these kids doesn’t concern them. The result could be different for those who take the time and who show some interest. If a person pays attention and takes the time to be involved, they may be changed. They might end up giving a piece of their heart to these kids. As I have said in the past, if that happens, a person may come close to giving these kids all of it. I repeat myself frequently as I write these stories. I do so because I like to place emphasis on things that I have mentioned before. Things that apply to each family that battles alongside their little warriors. Each story is unique because each one shares the details of a different family’s journey. However, there are some things that all of the stories have in common. After all, these are children that we are talking about. The things experienced while battling alongside them can be those which the families share in common. Undying love and a bond that cannot be broken. These are just two examples of what a parent or caregiver of a Batten warrior will come to understand. Battling illness is something that should only be experienced by those who have aged. It is so difficult to watch when a child suffers through something like a rare disease.
One question that I have asked frequently is this - What is it about these kids? Is it the feelings that are produced in us as we consider the plight of these children? Is it just what we are feeling or is it that there is truly something special about them? When something like the loss of a child’s eyesight occurs and they bounce back from the disappointment. When we see them press on in life, finding the joy in living again and showing this through laughter and innocent smiles that can still light up a room. Should we not find that a cause to be amazed? When a child can no longer communicate verbally with us but we can see the love that is there. We can see the love that is being reciprocated as the child’s eyes light up in our presence. There is that smile again. The smile that gives many parents encouragement to move forward and fight for another day. So familiar to me now are the images of the children that battle CLN2 Batten. CLN2 is just one of 13 variants of Batten disease but it is one of the most common forms to affect young children. Oh, how I wish that all of the kids that battle Batten had access to Enzyme Replacement Therapy. Even so, I am thankful that this therapy is available to these beautiful children that battle CLN2. The images that I speak of are the ones that show these kids wrapped in bandages. This as a result of the treatment that they receive every two weeks. What a commitment on the part of the families as they travel to have this procedure performed.
These kids are such troopers. For many of them, the side effects and complications associated with enzyme replacement take their toll. This, each time they undergo the therapy but again they always bounce back. The images of these sweet faces surrounded by bandages will always stay with me. Innocent children enduring more than most any adult will see in a lifetime. The things that they go through will not take away the joy that they have for life. Being in large part, unaware of the enormity of what they face, they simply press on. They do what kids do in every way, for as long as they are able. They battle so hard and they do so, so sweetly. It would be so easy to focus solely on the negative impact that something like Batten will have on a family. They do not call what is experienced by Batten families a “journey” for nothing. There are many struggles along the way and I try my best to detail these in the stories that I write. I do, however, try my best to make the love stories that are produced by these families my focus. There is sadness yes, but a love that is profound and undying. There is a bond that is formed that can never be broken (you wouldn’t want it to be). There I go, repeating myself again. With all of this in mind, I am headed towards telling the story of another family that personifies most everything that I have just talked about. Having sought to be a normal family, finding success as such, they have become much more than average when compared to your other families. Let’s not wait any longer to get started.
Gail Baxter grew up in the city of Carlisle, which is a town that is close to Scotland and in the northern part of England. Growing up, she thought about what her life might be like as she grew into adulthood. Whatever the case may have been in her thinking, she would find success in whatever she endeavored to do. Gail would grow to be a take care of business kind of individual. She would move from Carlisle to the city of Newcastle in her early adulthood and she would begin a career in the banking and mortgage sector. Gail would work her way up to a managerial position by climbing the ladder. She started her ascent serving in positions such as financial advisor and customer service manager for the Northern Rock Building Society. One day, she would begin to manage people, overseeing a team of sixty individuals. Gail was a coach and a person who helped in developing the talent of others. That is something that she thrived in and also, something that she thoroughly enjoyed doing. She had found success in her work life but there was more to life than just working. There was more for Gail to yet experience. The sun was shining on a bright August day. It was actually a Bank holiday in the UK that day and the year was 2006. Gail was out with her sister Emily and they had found their way into a bar which was named Osbornes. This was a well known and well put together establishment in Jesmond (a suburb) within Newcastle.
As the two ladies were enjoying their conversation, in would walk members of the Newcastle Vipers Ice Hockey team. One of the players, who by the way, was brand new to the team was a gentleman named Matthew Rich. Matthew had literally dropped his bags off in the hotel where the team had just arrived and had headed to the bar with his new teammates. Matthew was originally from Glasgow, Scotland and had grown up playing hockey. He had even moved to Canada when he was young to play at the high school level. Matthew had attended school and played hockey for Brock high school in Cannington, Ontario his first year and then headed to Notre Dame High in Wilcox, Saskatchewan to play his second year. Hockey was a huge part of Matthew’s life and Canada was, of course, a great place to further develop his skills. Matthew also sharpened his abilities by playing at the highest level within minor hockey in Canada. This as he played for the Central Ontario Wolves. He had even played for Scotland’s U21 Hockey squad (Under 21 age group) in preparation for a career in professional hockey. Matthew’s career had developed, just as he would want it to and here he was, a member of the Vipers and in Newcastle at Osborne's. This is where Matthew Rich and Gail Baxter would meet. Mathew had walked over to talk with the two sisters and he and Gail would gain an attraction towards one another. Neither of them knew at the time but they had each met their life partner. Before they left each other’s company, Matthew had put his number into Gail’s phone and a friendship would quickly develop.
Texts and phone calls would be exchanged as each one continued on in life with their individual careers. The two of them would soon after begin to date as their relationship continued to develop. Gail was not too familiar with the world of hockey at the time that she and Matthew would meet but she would soon get a crash course in the sport. This, much to her amazement. Gail explains, “I had never seen an ice hockey game before and was soooo impressed!! It is such an amazing sport to watch. I couldn’t even stand up on the ice and to see Matthew flying around the ice with such speed, strength, and skill was just incredible – I loved it!” Gail would have the ability to watch Matthew play in Newcastle for a few months until he was signed by a team named the Manchester Phoenix. This would mean a move for Matthew to a town name Hale, which was about 13 kilometers from Manchester. With this, Matthew and Gail would embark on a long distance relationship. Gail would not let the distance between them get in the way. She began to travel the distance necessary for them to spend time together and to see Matthew play. This would take place most every Friday after she finished at work and the trip would take over two and a half hours one way. She would return to Newcastle in the early morning hours on Mondays, in time to go straight to work. That is commitment but it was well worth the effort as Gail and Matthew continued to grow in their relationship. It is amazing to think about how the two of them would meet and fall in love. They could have missed meeting each other by an hour's time and would have never met at Osbournes but their relationship was one that was meant to be.
Matthew’s career would continue on as he had put in the hard work that it takes to play at a high level. All of the training, practice, and play in competition had really paid off. Hockey had become a way of life for Matthew and Gail was more than willing help by supporting his pursuit of excellence. Sadly though, things would take a drastic turn as the couple took a vacation together in Egypt. It was at that time that Matthew would come down with a severe case of food poisoning. The reaction that took place was one that was extreme and that would land Matthew in the infectious disease ward in Glasgow. This would happen as soon as he and Gail had returned home and he wouldn’t leave that facility for weeks. Matthew couldn’t walk and was bound to a wheelchair upon leaving. He would be diagnosed with Reactive Arthritis and it would take around six months to recover from his illness. Just to walk again, handling his own weight was a struggle but Matthew would overcome and get his health back. Gail would tell me that Matthew’s hockey club was very supportive during the ordeal and they would reinstate him after he returned to full health. Matthew would train and then return to playing hockey when he was able to compete. Being a professional athlete and staying at a competitive level is not easy. Recurring injuries can often take their toll on a player and that is what would take place in Matthew’s case. An issue would arise with his shoulder dislocating. This would take place a few times and it would interfere with his ability to compete. His shoulder was never the same and this would cause him to have to walk away from the sport that he loved.
Hockey was such a huge part of Matthew’s life and leaving was a “massive blow” to his existence. Even so, he accepted what was the reality of the situation. Matthew started to look for work while he and Gail set up home together. Hockey would no longer be the center of the young couples existence but they had each other and they were in love. They now had a life together, although they could not know what that life would entail for them. All throughout this time period, Gail had continued to work in the banking sector and Matthew would find employment working in industry. Life was about work and time spent between the two of them as their new life together continued to take shape. Gail had found success in her work life and had been rewarded by gaining positions of increased responsibility. She had put a lot of time and energy into her work but there was more that she wanted out of life. Before I continue, I should stop to explain that this writer learns something new every day. I am, in fact, learning new things with each story that I write so let me explain. We all know that having children of our own as we grow is a God given desire for most of us. I know there are exceptions. Now being from the United States, I know that most women want to enjoy the experience of being a mom when they grow up. I knew that in certain parts of the world, like down under in Australia and in the United Kingdom, that moms are referred to as mums. However, I did not know that in other places, like Ireland, Wales, and parts of Northern England that mothers are referred to as mams.
More to Life
I think that my readers know where I am going from here. Gail had found success in her work life but there was more that she wanted for herself. She had the desire to be a mam to children of her own and this desire only increased as she met the man that she desired to spend her life with. As a couple, Matthew and Gail wanted children together and that would soon become a reality. Both Matthew and Gail were so pleased when they received the news that Gail was expecting their first child. Just as they would hope for, Gail’s pregnancy would progress without major incident as the time would approach. It was also at that time that things were beginning to change with her work. Gail had been with her company for ten years when as a business her employer began to struggle, and changes began to take place. A reduction in force was coming and this left Gail with some options. What is often called a lay-off here in American is referred to as a redundancy in the UK and Gail would be offered the option of taking part in that. She would take this option instead of going on maternity leave because the timing was perfect for her to begin the next chapter. That of being a mam and raising a family! Gail’s co-workers recommended that she leave work a couple of weeks before she was due to deliver her baby and she agreed that would be a good idea. Gail had planned on having some down time before the day arrived but her baby boy had other plans.
That's right! Their baby, who Matthew and Gail would name Louis, was a boy. He decided that it was time to make his entrance into his parent’s lives a couple of days after Gail left work. Louis arrived on September the 2nd, of 2010. He had all of his fingers and toes and he was the most beautiful thing that his parents had even seen. Babies are by nature beautiful, are they not? Gail explained what she was feeling as she held baby Louis for the first time. I have also included some of what she was feeling after Louis was brought home. Here is what she would say, “... for the first time in my life, I felt I had found my place. I was meant to be a Mam! I remember a few days after bringing him home, we had family around and he was in his crib in the living room. We all sat around looking at him and I burst into tears and said ‘I just don’t want anything to ever happen to him, I want to keep him safe forever.’ It was the most real feeling of protection and I will never forgot that.” Louis was the picture of perfection and purity and he belonged to Matthew and Gail. Was Louis a little hockey player in the making? Well, whatever the case might be, he was adored by his family and still is to this day. His parents loved watching Louis grow and develop into a little man. Watching his childlike ways filled them inside like nothing else could. In all honesty, Louis was not the first baby of the house. That would be Matthew and Gail’s pet Beagle which they name Archie. The couple had researched and found that Beagles were good with children. Archie came to them about three weeks before the couple found out that Gail was pregnant. They, no doubt, loved watching Louis and Archie interact with each other!
Being parents to Louis was an amazing experience for Matthew and Gail. This, just as you would expect it to be. Some people are content with one child and some are intent on keeping things that way. That was not the case with this young couple. They wanted to experience the joy of bringing another little bundle into the world. They again wanted to experience the wonder of seeing those little hands and feet wiggle for the very first time. Gail would receive the news that she was expecting in the summer of 2011 and both she and Matthew were excited about it. They were going to become parents for the 2nd time. Things would go generally well for the first six months as Gail carried baby number two however, a concern would soon arise. It seems that Louis’ brother or sister to be was not growing as a baby would be expected to. For this reason, Gail was in and out of additional appointments because of the concern this created. It would be decided that it was best to deliver the baby by inducing labor three weeks early. Thirty-seven weeks of pregnancy was the goal that was hoped to be reached and that would be accomplished. It was time to bring the new bundle into the world and this would take place at the Royal Victoria Infirmary in Newcastle. It would be on March the 1st of 2012 that Gail would give birth to a tiny, yet beautiful, baby girl. The name given to this precious little person was Nicole Thomasena Rich. Her given middle name was that of Matthew’s Nana. She weighed a slight four pounds and eight ounces but even so, baby Nicole was flawlessly beautiful. She had all of her fingers and toes and she was covered in brand new baby skin!
The infatuation between tiny Nicole and her mam was so strong and it took place the instant she was handed to Gail. There is a special bond between a mother and her newborn child. It begins to develop even before the baby is delivered. The quality of relationship between a mother and her newborn daughter is perhaps greater than can be explained. Here is what Gail had to say about the experience, “That was it, I was instantly and completed besotted!! There is nothing more precious in this world than having your baby placed on your chest for the first time and you feel their tiny heartbeat and know they are yours. You have made this little person. Instant protection, overwhelming love. We could not have been happier.” Nicole would have to stay in the Special Care unit for a couple of nights due to her small size. The medical staff wanted to make sure that she was feeding well. Everything proved to be okay with their precious little newborn and the Rich family was now a family of four. The midwife that had delivered Nicole came to see everyone the very next day. She was so relieved that Nicole was doing well with as small as she was at birth. She was small but very strong and amazing to everyone who set their gaze on her. Gail describes what people were seeing in Nicole as they looked at their newborn daughter, “When we had visitors, they would look at Nicole and say ‘she’s been here before!’ She never had that glazed baby gaze they sometimes have, she was always looking around intently. She fed well, she was such a healthy baby and for as little as she was, she was strong as an Ox! Little did we know this would serve her well in this little life.”
Bringing Nicole home for the first time was, no doubt, a special event. According to Gail, Matthew had described Nicole's homecoming as an “explosion of pink” and I have no doubt that this was absolutely true. Why not celebrate the fact that there was a new little princess in the house? Princess’ and pink just go together. The Mammy of the house had her baby girl and everyone was happy to know this. Gail was now well established as a stay at home mam and this was a role that brought her a lot of fulfillment. Now, the enjoyment that she received as a mam would be multiplied by two. It had to seem so perfect, at that time. She had this beautiful little girl to compliment the son that was so adored by her and Matthew. Just as it had been with Louis, they now had the opportunity to watch little Nicole grow and thrive in the household environment. She would bring so much joy to her family as the days and months passed by. There would be nothing out of the ordinary that would stand out to Gail as she watched Nicole grow. By that I mean in the way that she reached her developmental milestones. It is normal for children to advance in different areas of their development at their own pace. Louis had been quick to reach his milestones and he was a very talkative young fellow but Nicole was coming right along with things as she continued to grow. She crawled and then walked not that long after, advancing to the point of being given the title of “daredevil”. Nicole loved the outdoors and all of the things that went with it. Running, climbing, and going down slides. She was adorable and so fun to watch.
Not Yet Complete
The timing of the reduction in force at the banking institute that Gail had worked for had been perfect! There was no maternity leave to return from, so there was no decision to be made as far as what to do. Gail had been afforded the opportunity to stay at home full time and this was very much welcomed. Especially because there were no grandparents nearby to help with the children. Gail was available to take children to every baby group and play group that there was. She was able to get to know the other mammies from these groups and play areas and this helped her to develop friendships with many of them. This was not to mention the fact that she was able to give her children her own undivided attention while they were young. Matthew and Gail had talked about her going back to work at some point but Gail knew she didn’t want to return to banking. She had a deep desire to work for herself one day and in fact, she had something in mind. I will let Gail explain in her own words, “My dream was to have a coffee shop/tea room and bakery (as I love baking!) and it was going to be called Barndoor Bakery. I have always loved baking and have always made our children’s birthday cakes, made family christening cakes etc. So I thought I might go into cake making – I made our wedding cake and then made two of my friends' wedding cakes too! No pressure there!”
Matthew and Gail knew that Gail would have to return to work someday but the children were young and they wanted to afford them the opportunity to have their mammy around for as long as they could have Gail home. There was something else that would shape their future as a family and that was the feeling that they were not yet complete in the size of family that they wanted. To some, having a girl and a boy seemed so perfect. Why not just call things good and move towards the next stages of family life? Gail explains her feelings in this way, “When we had Louis and then Nicole, a lot of people assumed that was us, one of each, but we didn’t feel like that at all. We were blessed beyond anything we could imagine but I still had a sense deep inside, that I wanted another child. As much as I adored and loved Louis and Nicole more than anything in the world, I just had this feeling that I was not complete.” It was just a fact that for this couple, there was more yet to be experienced. Both Matthew and Gail were people that had shown that they could achieve the things that they had set out to do. They had plans for a life together and the future was still largely in front of them. Things looked bright for them even if their circumstances had changed. Both being intelligent people, they could work together and focus on what their future would look like. Even with this, they were not quite ready to stop increasing the size of their family. Gail explains, “I adore having children, to care and protect them, to feel their love, to have their tiny arms wrapped around your neck. There is nothing more precious or that brings you more joy than the love of your family.” There was more yet to come and much more that would be experienced.
Matthew and Gail’s life would, one day, be redirected by the circumstances that they would find themselves in. At the time, they had no idea what lay in front of them. Most always, we cannot see all that the future holds for us and sometimes, things take place that seem overwhelming at the time. Whatever the case might be, the Matthew and Gail would face life together. They had been joined together in their hearts from the beginning of things and it was always their intent to be committed to one another. Those intentions would really start to take shape as Matthew proposed to Gail in February of 2013. The very sweet thing about the way that things were done was that everything now included the children. The event began to take place as Matthew enlisted the help of his own mam in Glasgow on a secret mission to get the engagement ring resized to fit Gail’s ring finger. There was a bit of clever deception that took place as Matthew claimed that he had left his wallet there in Glasgow after they had visited. He needed to meet his mam halfway in order to get the wallet back (every man needs his wallet) but in actuality, it was the ring that had been resized that he was after. He returned home with it in his pocket, and with Gail being “completely oblivious!” Gail explained what would follow, “He proposed that night and it couldn’t have been more beautiful. It was nearly Nicole’s bedtime so he asked me to get her ready for bed. I started to get her ready and I saw a pink ribbon round Nicole’s tiny tummy with a ring tied to it! I couldn’t believe it! It was a total surprise and such a perfect way to involve our babies. Louis came in with Matthew and got down on one knee and proposed!”
It would be one year later that this mam and dad of two would become man and wife. The date for the big event had been set and it would take place on the 1st of February in 2014 at a place named Matfen Hall. As Gail would put it to me, Matfen Hall is “a stunning and stately home in the beautiful Northumberland countryside.” To look at the pictures would tell everyone that this is, in fact, the truth. The estate is beautiful even from a great distance away and that is where this family affair would happen. Louis was set to be the page boy and the “bestest man” as Matthew’s brother would serve as the official best man alongside Louis. Nicole would serve as the flower girl and you can only imagine that watching Louis and Nicole doing their part was a reason for people to smile. Gail would explain that Louis was dressed in an adorable little kilt and a sporran. The sporran would be filled with his favorite drumstick lollies and other sweets. Little Nicole was dressed beautifully, having a special floral tiara and a wand made just for her. The entire experience would be captured in order to provide precious memories that could be viewed at a later date. Gail talks about the video as she gives some detail about that special time together, “We had contemplated having the wedding videotaped and at the last minute we decided to go ahead. Thank goodness we did, because we now have the most precious, precious memories of that very special day. Nicole running along the front of the guests squealing, excited as we were just about to say our vows! When Louis gave us the wedding ring on a tartan cushion with the ribbon tied around it to hold the ring .… he then says to Daddy ‘look, it’s a present daddy’…. and indeed it was.”
Matthew had used the same ribbon that had originally held the engagement ring onto Nicole’s tummy for a special purpose. It was used to have Gail’s wedding bouquet tied together. What a great symbol of thoughtful intent and commitment that would turn out to be. Everything that was done, was done thoughtfully. This would be an event where the newlyweds would be surrounded by friends and family on what would be an extremely special day. A life spent with each other had really come together. Life as a family of four would continue and it would continue to be a beautiful story in the making. It would only get better as the next big event would take place. This would be the announcement that Gail was expecting child number three. The Rich family would soon be increasing in size as Gail would be expecting once again. There would be several false alarms along the way and the news would come a little later than it had before. Both her and Matthew were ecstatic with the news that Gail was expecting again. She had, in fact, been convinced that they would have another little boy this time around. Gail explains, “I was drawn to boy’s names, and to boy’s clothes. I was playing out scenarios of how Nicole would be protected by two brothers! Ha ha!” Gail would be monitored more closely during her pregnancy than she had been previously. This was because they wanted to ensure that the baby had been growing as expected. All had turned out well with baby Nicole, however, her growth in the womb was not what one would hope for. Things would go well with this pregnancy and the day would arrive.
The Perfect Number
Just like it had been with her big sister (that’s right, the baby was a girl after all!) the new addition to the Rich family would be born at the Royal Victoria Infirmary in Newcastle. The new princess would be born on the 18th of September in 2015 at 5:45 pm. This baby girl came to her family weighing in at six pounds and one and a half ounces. Just like her big sister had been when she was born, this little girl was flawless and she was flawlessly beautiful. Yes, that’s right! She had all of her fingers and toes and she was covered in brand new baby skin. Gail describes the big event and how her life was impacted by that day, “...our darling second daughter came into the world and the second she was placed on my chest I felt complete. There is no other word to describe it. The longing I had felt in my heart for a third child had gone. I had been blessed beyond belief and my life as a mammy of three was a dream come true.” Matthew and Gail had chosen the names Harper or Belle for if the baby was a girl. When they looked at their newborn daughter neither name fit for one reason or another. Their daughter would actually be named “baby no name” upon leaving the hospital because they couldn’t decide on what her name should be. They had thought about the name Jessica at one point in the pregnancy but had forgotten about it. Matthew’s mam would remind them by asking, “What about Jessica?” The young couple looked down at their beautiful little baby and thought, “that’s it, Jessica is perfect!” And so, she was named Jessica Annie Rich. She received her middle name after Gail’s Nana who was named Annie.
Before that would take place however, they would leave the infirmary a family of five, ready to take on what life would bring their way. Still at this time there existed the fact that Matthew was the only one working and this would allow Gail to stay home with the children for an extended period of time. There was no end to a maternity leave that had to be dealt with. She was there for everything like all of the baby groups, school drop-offs and pick-ups. Gail was there to see her kids grow and to reach new milestones and she was there for Matthew when he arrived home from his day. Gail figured that this was time that they would never get back. This was hers and Matthew’s thinking, even with not knowing what lay ahead for them. There were so many life events that they looked forward to as they thought about what the future may hold. There were thoughts of children and their schooling as they graduated and moved onto all of the levels of education. Would these three attend college, or would they work in a vocation of their choosing? Would they work in the family business that Gail had dreamed of having? Perhaps Louis would be an athlete like his father. There could be family gatherings of all kinds and time spent together throughout the years. Christmas’ and weddings, these were some of the possibilities for what could take place. Being a family could also bring hardships. There are often difficulties that can come along as time passes. Part of being a family is dealing with situations as they arise. Scrapes and bruises or a broken bone are the kinds of things that one may expect as children are growing up. Some children are born with special needs and others require greater attention in school.
Going through life together and dealing with life’s difficulties is part of what being a family is all about. There are things that just don’t come to a parent’s mind under normal circumstances. There are so many unknowns that can take us by surprise. That is also part of living on this planet. Something like a rare disease is one of those unknowns that can appear out of nowhere and there was no way that Matthew and Gail could know. There was something in their future as a family that would change life for them forever. Everything had gone so well with young Louis as he progressed and developed. Things would be different for beautiful Nicole during her early development. It would soon be clear to her family that they had a special set of circumstances with her. One thing would be noticed as early as two years of age and that was that Nicole was behind in the development of her speech. It would be at her two year check-up that it was noted, Nicole was not saying any words yet. As a result, language therapists would be called in to intervene. Even with this, Matthew and Gail would not be overly concerned at this point. After all, Nicole was understanding what was being said to her and she was following instructions. They just thought that her language skills would come with time. Little Nicole would receive over one hundred therapy sessions using methods such as visual timetables and pictures cards. It would seem that she would begin to get the hang of things but would lose interest.
Time would continue on and more people would take notice in regards to Nicole’s lack of skills in the area of her speech. Both the teaching staff, as well as her speech therapist, were concerned as Nicole entered the pre-school environment. Nicole was just not progressing, in spite of all of the added attention that she was receiving. It must have been so disheartening for people to look at that darling little face and to know that Nicole was struggling the way that she was. The concern that Matthew and Gail had over Nicole had to be increasing as the days passed by. There had been an additional concern that had been noted while this had all been taking place. That was the fact that Nicole was having an issue with a lack of concentration. Nicole had not yet spoken a word as she turned three years of age and at this point, her situation was alarming. It was time to seek medical attention in order to try to find an answer and the first place to start was with the pediatrician. It is a challenge anytime one of multiple siblings in the house requires extra attention and I know that this would be a challenge as things continued to develop. Little Nicole would undergo a series of cognitive and behavioral tests to try to determine what was taking place. As the testing was completed, a result would be given showing the diagnosis of Global Developmental Delay. GDD is really just a blanket term that is applied to children that show significant delays in their cognitive and physical development.
This would certainly fit with what the family was seeing in Nicole. She was delayed in almost all of the areas of her development. How difficult this must have been at this point. Nicole was, at three years of age, displaying the behaviors and characteristics of a child that is 18-20 months old. She had been first seen as a child that would catch up at her own pace, but now, that was no longer a possibility. The subtle regression of her skills was now, much more obvious. As Gail had stated in a piece that she had written for BDFA of the UK, “We had been watching our baby girl deteriorate in front of our eyes completely oblivious to the reason.” Developmental delay is something that a family can live with in a child. It does take an adjustment in a person's psyche. A parent will learn that they have a special case on their hands and they will come to terms with the fact that their child may need their help over an extended period of time. It could be caused by something that happened at the time that the child was carried in the womb, or it could be something that is out of order genetically. People with special needs have a special place in society and especially, in their families. In Nicoles case, there was more that was taking place. Much more! It would be just days after the diagnosis of developmental delay that Nicole would have her first seizure. There are not many things that are more frightening for a parent to see happen. This little porcelain doll of a child was seen to experience something so terrifying to her parents.
There was no history of epilepsy in the family and Nicole’s parents had no idea what was going on as the initial seizure was taking place. Gail described that first event with the following, “It started with a twitch that traveled up her little body. She then went lifeless, turned blue, and then stopped breathing.” Can you imagine how terrifying that would be for a parent to witness such a thing happening with their child? Matthew and Gail truly thought that they might lose their tiny princess at the time that the seizure was taking place. Like most any set of parents would, the Riches made sure that Nicole was seen at a hospital, and afterwards, an EEG would be performed. The result would be that she was given the diagnosis of focal epilepsy. Focal epilepsy is simply a condition that involves recurring seizures that can affect any one portion of the brain. The doctors would come to believe that there was an underlying syndrome involved in Nicole’s case but they did not know what it was. They were not immediately able to piece together all of the symptoms that they were seeing in Nicole. What would transpire was a search for answers that would take place over a more than two year period. All the while, this sweet little girl continued to regress. The Rich family would experience an attitude of love and concern on behalf of the medical professionals as they tried to help. Gail would use words like “amazing” to describe the care that they would receive but the answers that they sought after would not come quickly. Nicole would, of course, be under the care of a neurologist and the Riches would return there frequently looking for help. This was in addition to visits with Nicole’s pediatrician.
The problem was that her issues were related to a rare condition that was escaping those who were trying to help. You can only imagine that medical professionals would look at someone like Nicole and would want to give her their very best care. She is someone who would melt most anyone’s heart. Just look at her! Gail speaks about what she witnessed during this very confusing time, “They really wanted to help us and bonded very quickly with Nicole. Our pediatrician used to call Nicole ‘poppet’, it was so sweet. Nicole would walk into the room and everyone would instantly connect with her. She was just, and still is, adorable! Because she was so small, she looked even cuter and as she was mischievous, it just added to her infectious and loveable character.” It would be at the time that Nicole’s mobility started to become affected that her parents really became concerned. This had to be more than just simple epilepsy. Nicole would begin to fall frequently, stumbling and never really having control as she walked. Yes, it had to be a syndrome that was yet unknown and there needed to be a conclusion to the search for an answer. Matthew and Gail urged the doctors to continue testing until that answer was found. This family knew that something wasn’t right! People reading this story will already be aware. The Rich family had begun a journey that involved a diagnosis for a rare disease named Batten, known clinically as ceroid lipofuscinosis, neuronal. The problem is that Batten disease is one of 7,000 rare diseases that affect children.
The disease has seen an increase in awareness in recent years but that is not the case in every place throughout the world. More doctors have knowledge concerning Batten disease but not in every place. It is also true that many of its symptoms are shared with other diseases. For the most part, it can only be confirmed through genetic testing and that happens when you have an idea what to look for. The majority of the medical professionals that Matthew and Gail had come in contact with had never heard of Batten disease. Even when it came to Nicole’s neurologist, he had only seen one case of it in twenty years of practicing medicine. The insistence of Riches would eventually pay off even if the result would be completely disheartening. Eventually, doctors would think to have blood drawn to check for a metabolic disorder and to have it sent to the Great Ormond Street Hospital in London for testing. The results of the testing would eventually come back and the Riches would be contacted. The doctor wanted Matthew and Gail to come in to get the results. They wanted them to come in by themselves and without the children. On the way there, the couple thought about what they would possibly encounter with the news. Would their daughter be wheelchair bound for the course of her entire life? Would she remain in her parents' care for many years to come? There were so many things that were unknown to them in that moment and the news would be worse than anything that they could imagine.
Once arriving at the hospital, the Riches would be met by a team that included the pediatrician, a nurse, and a neurologist. Once there in the room with the medical staff, Matthew and Gail would be given the news that their beautiful little girl had CLN2 Batten disease. These are dates that one may never forget although a person may wish that they could. September the 16th of the year 2016 is the day that they first learned that such a thing as Batten disease existed. They would learn the details of what would take place with little Nicole. They would learn that there is not a cure and that the disease is fatal. There usually are not words that can fully describe what a parent is feeling at a time such as this, however, Gail fully explained the experience with these words, “Nothing can ever prepare you to hear those words. It felt like we were looking in on someone else being told. Like it wasn’t real. We kept saying “ You can’t be talking about Nicole, you must be wrong.”…. It was a physical pain, like our hearts were actually breaking. It was the worst moment of our lives.” For a long time, doctors were incapable of doing anything other than to tell the parents of a child with CLN2 Batten …. “Go home and make your child’s life as amazing as possible” Gail would share hers and Matthew’s initial thoughts. Were they just meant to go home and watch their innocent beautiful Nicole deteriorate and die? There was hope for a course of action but in those moments, there was only despair and grief that was unbearable.
So many different things would take place in the weeks and months that followed Nicole’s diagnosis. The Riches would learn much more about the disease and they would connect with the Batten Disease Family Association (BDFA) in the UK. Matthew and Gail would learn that they were far from being alone in this journey. This was very much welcomed, even if knowing this could not take away the pain that they felt. One thing was apparent as they learned that this was a genetic disorder. That was that it was possible for their other children to be affected. Louis was past the normal age of onset and he had shown no symptoms, but what about baby Jessica? The only thing that could make the news concerning Nicole worse than it was, would be if they would learn that Jessica was also affected. They of course, would have Jessica tested genetically and the outcome would not be good. The grief that they now carried would be multiplied by two as their hearts were broken for a 2nd time. This would also take place in 2016, three months later in December. Jessica’s test results had shown that she also had CLN2 Batten disease. The news couldn’t have come at a worse time. The Riches were beginning their travels with Nicole to a Starlight Lapland wish trip that is hosted by the Starlight Children’s Foundation. Jessica, who was only fifteen months old at the time, was staying with Matthew’s parents in Glasgow.
It was difficult but necessary to leave Jessica as this time was meant for focusing their attention on Nicole while also making memories. They had “cuddled'' Jessica and said that they would see her in a few days. Matthew and Gail would leave, not knowing the utter despair and pain that would follow. How could this be happening to both of these innocent little faces? Being a mam to these children had brought Gail to the place that she had longed to be. Matthew had to have been beaming with pride over this beautiful family that was his responsibility. Now however, he was met with concern that was overwhelming. Again, what was being felt would be more than most could describe, however Gail paints the picture perfectly with these words, “I still don’t know how we were able to get through and how we managed to hold it together as well as we did. I remember wailing and screaming, I felt like the life had been sucked from me, I have never felt so helpless or so weak. It was definitely a physical pain, but my mind was in pure turmoil.” It would be early after Nicole’s diagnosis that the Riches would learn about a life changing treatment that had recently become available. Through BDFA they would learn about Enzyme Replacement Therapy. A child that has CLN2 Batten disease is missing an important enzyme that is responsible for cleaning wastes from cells in the body. In particular, this has a big impact on the cells in a child’s brain as they are not able to rid themselves of the waste. Enzyme Replacement is a pioneering procedure that uses a solution that takes the place of the missing enzyme. The solution is administered directly through a device which sits inside the skull. Nicole would gain entrance into the program on a compassionate use basis and she would begin therapy in January of 2017 at the Great Ormond Street Hospital for children.
How difficult would that have been to deal with the realization, back on that day in December. Jessica also had Batten disease. She was only a baby. A time meant to honor Nicole and to further process their feelings had turned into an even larger nightmare. Gail explains the feelings of desperation and the resolve that would follow, “I remember pacing the corridor outside our hotel room, hysterically phoning our social worker, asking her ‘what are we going to do?’. We spoke to Harriet at the BDFA from the airport, as I was desperate for someone to start looking at how we could get Jessica on treatment like Nicole. Through the devastation, we jumped into practical mode and wanted as many people looking into it as we could.” Little Jessica was so young that it was well before the time that she would start showing symptoms of the disease. In a very real sense, Nicole would become a hero to her baby sister, even if they were both unaware of that fact. Why would I say something like this? Two things were in Jessica’s favor. One was that she would be diagnosed before symptoms appeared. The other was that Jessica could potentially begin to receive enzyme replacement before any damage could be done. The goal would be to get Jessica started as soon as possible. It had taken over two years to determine the cause of Nicole’s symptoms and there had been a progression into the disease. Nicole had paved the way for early intervention towards her little sister.
Beautiful Nicole would be given one of the final places within the compassionate use program for enzyme replacement. Little Jessica was another story all together. A child had to be at least 3 years of age to begin the trial and Jessica was only 15 months old. Besides this, all of the places in the program that Nicole was in had been taken. There was no place that Jessica would fit into but this would not stop her parents from working on getting her what she needed. They would begin a desperate search to get Jessica accepted into a program. In the course of time, Matthew and Gail would learn that there were sibling programs in Ohio of the USA and in Hamburg, Germany. Both of these options would each present a different challenge. That is if they could even get Jessica into one of these programs. There are however, not too many challenges that these families will not accept on behalf of their children. Even with this in mind, an exception would have to be made for Jessica to be accepted into a program. The best option would, of course, be the trial that was taking place in Hamburg. This even though the travel time by air, all total, would be around eight hours. The Riches began calling the BDFA and BioMarin, which is the company responsible for the clinical trial. They also called the doctors in Hamburg that were involved with the program. It would not be easy. Nicole was already getting her treatments done in London every two weeks at GOSH. That, in itself, would be enough with traveling there from Newcastle every other week.
It didn’t matter how difficult the circumstances though, the Riches pressed on because they had no other choice. Gail explains the outcome with the following, “It was a difficult time for us because we knew that time was of the essence and Jessica didn’t fit anywhere. So, after many emails and phone calls, Biomarin agreed to amend the protocol and reduce the age limit to allow Jessica to join the trial….”. Jessica would begin to receive Enzyme Replacement Therapy at only 21 months of age. This would take place before any symptoms whatsoever began to appear and that was so important. Jessica would “pave the way” for other children to receive enzyme replacement safely at a younger age. Just like her big sister had, Jessica would need to undergo the surgery. This was to implant the port that is needed to accept the fluid for enzyme replacement. There on the operating table would be this tiny child who had shown no symptoms of Batten disease. Gail stated that for Matthew, signing the consent was the hardest thing that he would ever have to do. She was still a baby and still perfectly healthy but it had to be done. It was the best thing for her. Something that was even more challenging was the fact that the Riches would have had two children receiving enzyme replacement in two different countries. Can you imagine having to travel a distance with one child that is three hours one way and then, also having to travel to Germany with the other child? Of course, the hope would be that Jessica could one day have her treatments done at the same location as her sister.
That would not take place right away or even soon however. Jessica would travel with one or both of her parents to Hamburg for ten months before a sibling program would open up at GOSH in London. At first, both Matthew and Gail would travel with Jessica but that would prove to be too much. Germany one week and London the next. We haven’t mentioned Louis too much yet. We haven’t talked about the effect all of this would have on him. So much time would be taken to deal with the issues that surrounded his two sisters. There is always a challenge for the siblings that are unaffected and making sure that they are not neglected is important. For this reason, Matthew and Gail would make the decision that only one of them would fly to Germany with Jessica. That responsibility would be taken up by Matthew as he traveled with Jessica every other week to her infusions. This would ensure that Louis had more time with his mam and less time of being left in someone else's care. They would also make sure that both girls were receiving their treatments in the same week so that they had more time together at home as a family. Gail stated that at the beginning, the girls were receiving the same treatment on the same day, only in different countries. Matthew, in looking at the number of flights that had been taken in that ten month period, placed it at around 300 flights. There were no direct flights available from Newcastle to Hamburg and the locations of the connecting flights are too numerous to list here. You do get the idea though. Life was very hectic and this family would have to warrior on.
A Family Together
The commitment on the part of Matthew should make it obvious to everyone that he is an outstanding father who loves his family! Obviously, I have personally, never been to the Great Ormond Street Hospital in London. I have read about it and I have read comments made by people that have been there. It is a very outstanding hospital with a rich history of caring for children. It is a very special place and they would open up a siblings program, just as was stated earlier. Ten months after Jessica began her treatments, she would begin to get her infusions at the same time that her big sister would receive them. At the same hospital! There were no more flights to jump on every other week and less separation time as a family. Gail said that Jessica “transferred smoothly and without any apprehension”. She would also refer to her as being “one adaptable little lady” and I might add a darling little lady as well. So often, I use words like “special” and “amazing” to describe these children who endure more in their young lives than most adults will see in a lifetime. Their innocent little ways remain, even as they go through everything that they encounter. There truly is something special about them. Gail describes what she sees in both of her little girls with this, “Both girls are so tolerant, so resilient and super brave. We are in awe of everything they endure, always with a smile on their faces. We get our strength from them.” Gail said that they are currently talking to their local hospital, hoping that the girls will soon be able to receive their treatment there.
What a difference that would make as the travel time would be reduced to a mere fifteen minutes. That would be a great reward for all that they have had to endure. From Germany, to London, and then to treatments at home in Newcastle. This would be best for everyone and that includes Louis who has had to hang in there. He has been such a trooper! So often, the siblings of children that have special needs have to take a back seat to the kids that battle. The attention that is required often robs them of the attention that is due to them. Both Matthew and Gail are intelligent people who understand that this can be a real issue. They take the necessary measures to make sure that Louis knows how special he is. Here is just a little of what Gail had to say about her son, “Louis is 10 years old now, and we cannot put into words how much we love him and how proud we are of him. He is a sensitive, thoughtful boy, who has had his struggles watching his sisters go through what they have. Surgery, testing, regular hospital visits, we always make sure we make time just for Louis.” The Riches make it a priority to spend time with Louis as the regimen of a Batten family’s life continues on. It began four years ago and continues to this day. With all of the feedings for Nicole and all of the special medical needs, they make sure that Louis is not forgotten about. Louis loves playing chess with his father and going on bike rides with his mam and dad. He is a rugby player on a local team and is involved in the Cubs. He also enjoys time spent with his mam and dad during family movie night. Louis loves going to school and being with his classmates.
Matthew and Gail get the affirmation that they are doing a good job with Louis through the comments that they receive from others. Louis is considered to be polite, well mannered, and considerate. This is the kind of thing that takes place as parents take the time to show a child that he or she is loved. Louis, of course, knows what Batten disease is and he knows what it does to children. He has watched the effects of the disease take their course with Nicole. Louis has watched as his sister has gone from running and playing to losing her skills and becoming dependent on others. Gail stated that it is difficult and heartbreaking to see how he is affected by this. She went on to say that Louis would often remark about how he would send fighter jets into Nicole’s brain if he could. This, to blast the disease with something that it hates in order to destroy it. In his youthful way of thinking, he tries to think of ways to battle Batten disease. Louis is inquisitive and asks a lot of questions. Matthew and Gail have always done their best to answer his questions in an age appropriate manner. What do you do when a child asks you if his little sister is going to die? How do you deal with something like that? This is just another kind of challenge that is faced by Batten families. Gail said that hearing a question like this was like an arrow had been placed in their hearts. Louis has grown in his understanding of Batten disease over time and the Riches have helped him in that way. He is a young man that most any parent would be proud to have for a son. Obviously, he is a special big brother as well.
As Matthew and Gail began this journey, they had found a lot of support within the medical community for what they were going through. People wanted to help in every place from Nicole’s school to the various doctor’s offices. There was however, not a lot of knowledge when it came to Batten disease. Being only one of thousands of rare diseases that affect children made a difference. The disease does not always come to mind when doctors are looking at symptoms. What they see is most often misdiagnosed as being something else as the search for answers continues. The BDFA (Batten Disease Family Association) is trying to change this. For the Riches part, they formed a non-profit foundation named the Nicole and Jessica Rich Foundation in January of 2017. They wanted the work that they do to be a legacy on behalf of their two beautiful daughters as they attempt to have a positive impact. This, on the lives of those who battle Batten as they raise awareness and funding. They want to do things to support research, the BDFA, and to help with their daughters' needs. Like with many of the other non-profits there in the UK, the Rich family, through their foundation, has organized some impressive events to raise funds. From holding the world’s largest half marathon to having a climb to the top of the highest peak in the UK. From something as difficult as an event involving an assault course to something as simple as a Christmas coffee morning, they do a few fundraising events each year. Like it has been this year for every non-profit, their’s has been impacted by Covid-19.
This has obviously not dampened Gail’s spirit. You can see that as she talks about her favorite event and the impact that the events have on them as a family. In her words, “The most special event to us is our fundraising ball which we have hosted for the past three years, ‘The Sweetheart Ball’ named after our sweethearts! 2020 would have been our fourth event, but due to Covid-19, it couldn’t go ahead so we are committed to make the 2021 Sweetheart Ball the best yet!!! We put our hearts and souls into organising and planning the event so it means the world to us to see the amount of support there is for our little girls and our family on that night, it is truly humbling.” They are proud of what the foundation has been able to do and so appreciative of all of the wonderful support they have received. I can only imagine that people look at those two little faces, and knowing the plight of these girls, they only want to help. Gail continues with these words about the support that they are receiving, “We have been blown away by the level of support we have been shown, people are always thinking of us and how they can help. It really makes you feel like you are not alone and there are so many people who want to help you make a difference. We are so thankful for every penny.” The funds that have been raised has assisted in the Riches being able to afford specialized equipment. Things like a bath seat and a car seat for Nicole.
In addition to lending support monetarily to the BDFA, they donated a sum of money to a research team at UCL London in 2018. This funding went to a gene therapy research project meant for saving children’s eyesight. The Nicole and Jessica Rich Foundation will continue to give to projects that appear to be worthwhile as they are able, and will continue to aid families that have children that battle Batten. Fundraising and raising awareness are two things that they will never stop doing as the foundation seeks to make a difference. We never know what life will bring our way and the Riches are making the best of what life has brought to them. They have fought battles for kids that battle Batten alongside other families within the UK. The most notable battle was the fight to secure the funding of Brineuera (enzyme replacement) through the NHS (National Health Service). The fight to have this treatment funded was exhausting for all of the families that were involved. The reasons why this was so important should be obvious. That being the little faces with trusting eyes that look up to their parents for help. This pursuit was worth every bit of energy that it took on behalf of the Rich family as they joined with others in this cause. Those that battle Batten alongside their children are a special bunch of people. Only they can truly know what it is like to go through what is referred to as a journey through Batten disease. I’ve been told that in many ways, the road that these families travel is a lonely one. The loneliness that is sometimes felt is lessened by knowing that there are others that know what it is like and who are willing to come alongside. It also helps to know that there are people who try their best to be empathetic and helpful.
Important to the Rich family are the people that they have connected with through this hardship. Matthew and Gail are two people that just wanted to have a family together. They have been asked, however, to deal with something that most will never know about. I liked what Gail had to say as she shared her thoughts. Here it is in her own words, “Ours is a difficult road but we are never alone. We have each other, we have our friends and family. We also have the wonderful Batten Disease community, who have become like family. There are few people in the world who know what it is like, then even less who know how it feels to have the diagnosis twice. Through devastating circumstances, we have connected with some truly wonderful, caring and inspiring people, who we would never have known had it not been for our daughters illness.” Like most of the families, the Riches had never heard of Batten disease before they were given the news concerning Nicole. Their grief was then multiplied by two. There is no telling what their lives would have been like if Batten had not reared it’s monstrous self into their existence. They were at first, “carefree and spontaneous” but now, their lives are regimented. It revolves around feedings and the giving of medications, this not to mention the trips for the infusions. It is not what they thought that it would be but again, they are making the most of the situation that they have been given. There are reasons to rejoice and embrace the life that they have, but daily, there are also struggles.
Matthew and Gail would be the first to tell you that they have their good days and their bad days. You will never know how strong you can be until you have no other choice! Gail shared the most difficult part of their journey to date with this, “The hardest part of our lives has been to watch our beautiful Nicole lose her abilities. Then see her little sister doing all of the things she once did. We are in the heart breaking situation of being able to compare our daughters who are both at very different stages of the disease. This is why we feel so passionately about early diagnosis because we see the difference it makes to our daughters every single day. It is hard on our emotions because we are rejoicing for Jessica and all she is achieving, but we feel heartbroken for Nicole that those moments were taken away from her because of Batten Disease.” Gail would go on to talk about the fact that in spite of what the disease has taken from Nicole, she remains bright and beautiful. That is so easy to see, even from this great distance away. She is still, very much so a porcelain doll with her big brown eyes that speak love to those who come in contact with her. As I alluded to at the beginning of this story, there has, in a certain way, been a reversal of roles in the relationship between the two sisters. You will frequently see Jessica hovering around her big sister, ready to help her in whatever way she can. The bond between these two sisters is strong and very special. For Nicole’s part, she is the heroine to her little sister. This is because she led the way and allowed Jessica to enjoy a quality of life that she herself has missed out on.
Every time I have chatted with Gail, or have listened to her voice messages, I see or hear a person who is trying her very best to keep things on the positive. Life is not what they would have expected it to be but they are making every day count through teamwork and an emphasis on family. I have found her to be a remarkable person who has made the most of a difficult situation. Matthew and Gail are truly a team. With the following, she explains a little bit more about the adjustment they have had to make, “Getting a diagnosis like Batten Disease quickly makes you re-evaluate your priorities and you soon know what is important in life and what is not. It is not the life we planned or envisioned when we had a family, but as we had to learn, you are forced to accept your life will never be the same. You try your hardest not to look back and instead, try your very best to make every day count. The happiness of our children is all that matters. We can’t control the disease, but we control how we respond.” As a general rule, Batten families do not look too far into the future. Rather, they make each day count. Some deal with the challenges by pouring themselves into working as advocates for the community that they are a part of. Gail puts it like this, “We live each day with hope in our hearts and we will never stop doing everything we can to find a cure for this horrendous disease.” The Riches feel like it is a waste of energy to worry about what might happen. They stay focused and handle things in the most practical way that they can.
It all began as a simple outing in a public place that brought two people together. They had likes and interests in common and they fell in love. Finding a life together, they both loved the idea of having children and being a family. Wow! It is sometimes staggering to think about how quickly our lives can change. A chain of events can be set off by a single occurrence and then, we are changed forever. Gail had found her place. Being a mam to three beautiful children had brought her more fulfillment than anything else in life could. There was much that they would look forward to but more would come their way than Matthew and Gail could have ever expected. The love that they have for these three children is stronger than words can describe. Again, Gail does an able job of sharing her feelings with us with the following, “My gorgeous girls, my world….along with their big brother. One of my favourite sayings is ‘the most precious jewels you can have around your neck are the arms of your children’, and this is so true. I cherish every day, every smile, every cuddle, every bedtime, every single part of being a mother is a blessing. Hearing the words ‘Love you Mammy’ is the best thing in the world.” Even though Nicole has never been able to say those words, you can just see the love that she has for her family in her eyes. I can see it too, even from such a great distance away. She is just so beautiful.
The Riches are grateful for every day that they are given with these three beautiful little souls. Watching the bond that exists between the three of them brings so much joy and strength for another day. There is nothing that this couple will not do for their children and they will be there for them, every step of the way. One moment at a time, taking each day as it comes their way. Life for all of us is so short and we can't waste time worrying about what we cannot change. Undying love and a bond that cannot be broken. There I go again. These kids do change people. I know that telling these stories has changed me. There is sadness along the way. There are difficulties and very trying circumstances associated with having children that battle a rare disease like Batten. It would be so easy to make that the entire focus of these stories, however doing so would not paint a complete picture. Beautiful are the details that reveal the depth of feeling that surrounds these children. The depth of love that exists between the kids that battle Batten and those that care for them is something that is beautiful. The life of both Nicole and Jessica is a beautiful story. This is because both of their lives embody all of the beautiful details that we have talked about.
Life is not what Matthew and Gail expected that it would be. They, along with their children, are on a journey that they once were unaware of. The circumstances that they find themselves in has, in part, changed who they are as people and the direction that they are going in. Never, could they have thought about being rare disease advocates. In all likelihood, the thought had never entered their minds. Who knows what number of people they will affect by sharing the details of their journey. How will their lives be affected by being involved in the lives of others? Life is a lot better when you look beyond yourself and try to have a positive impact on other people. The Rich family is doing exactly that, even in the midst of some very trying circumstances. I am thankful for the researchers that have brought about the treatment that Nicole and Jessica receive. It is making lives better, one family at a time but we do need a cure so badly. For the families, that can’t come soon enough. Speaking of families, this is a very special one in yet, another special place. I am grateful for every opportunity I am given to be involved in a community that I care deeply about. Thanks for taking the time to read this story. Thanks Gail for helping me to tell it. All my best to you, Matthew, and those three very special children of yours!
Blogger and Advocate
“Life ended as we know it that moment. Our wonderfully happy, strong, and independent girl had a fatal disease. I'm not sure how long we sat there or how many questions we asked... that part is a blur. I just know we left the office with the news that Haley was dying and there wasn't anything the medical community could do to save her.”
Haley’s Mom and Advocate
I do tend to repeat myself frequently as I write these stories. Phrases like “a love that is profound and undying” come to mind with each story that I write. I’ve used the phrase over and over now because it just seems to fit so well with the stories that concern kids that battle Batten. Certainly, it is true that most any parent would do whatever it takes to help one of their children when they become ill. However, parents who have children that battle a rare disease will go through more than most. There will be more appointments and more demands. Especially if the disease is one for which there is no cure and the disease progresses as it takes its course. Feelings will be felt that are not experienced by many. This all happens after the news is received and the initial process of grieving begins. The actions taken on behalf of the children and the sweet details of love that is felt for these kids are the object of my attention. And then, there is the resilient nature of the kids themselves. The way that they take life’s difficulties in stride. This as they experience the changes that take place within themselves physically. These young warriors find a reason to smile on the most difficult of days and they bounce back from the challenges that come their way. This, for as long as they can do so. They are able to teach us much about the things that are important. We tend to worry about the little things that occur in life and we sometimes need to be reminded not to. This by those who face major challenges. I think that we all have different ideas of what is important in life.
Knowing a child that battles a rare disease may cause us to consider what our priorities should be. Perhaps, we shouldn’t “sweat the small stuff”. Greater Awareness was not my first thought when I started to write about families that battle Batten alongside their children. One thing just led to another and the months have now turned into years. I first had to be made aware of the children that battle rare diseases and that happened through learning about the plight of one little girl who battled Batten disease. Everything has come out of the opportunity to meet her and the opportunity to follow her journey. The love that I had for my youngest son who has special needs, had lent itself to a love which would be developed for kids in that battle. Looking through the details of what is faced plus meeting these families online and in person has only served to strengthen my desire to continue. These kids are so very special. You only have to give a small piece of your heart to them and they will come close to taking every bit of it. This is absolutely true. I am definitely no expert in the area of medical science but it has been fascinating to learn a little bit about how the human body functions at a cellular level. I have also learned a little bit about what takes place when the cells that make up the human body do not function the way that they should. Looking beyond the science to look at how lives are affected by the failure of the cells to perform their function normally ... These are children that we are talking about.
People’s lives are impacted by the circumstances in which they find themselves when this happens. It’s knowing the plight of these kids that makes our hearts ache. Especially when we look at their faces and we look into their eyes. You may know what I am talking about. A person can be moved by these stories. I have been told that there are some 7,000 rare diseases that affect children. Many are fatal. How do we possibly draw attention to all of them? It can only be done by the efforts of many as they do what they are able. Sadly, there is much that is not being done. The majority of those that make up the number of rare disease advocates are the parents of these kids themselves. That is for good reason. For them, this is personal. These are their children that we are talking about. To me, any person that stands alongside these kids as they battle are special individuals. Many have been through the process. Many are in the middle of it. I am talking about the process of going from a state of shock as the diagnosis is received to a condition of grief and despair. Both of these remain but the individual pushes through the feelings that can’t be denied. This is in order to do their very best for their own child, or one who is under their care. Most all will do whatever they are able to do. Some are able to do more than provide basic care. Some will become champions for the community that they find themselves being a part of. This may come as a result of being able to spread massive amounts of awareness concerning the disease that their child is affected by.
Being an advocate for a child with a rare disease often makes ordinary people do things that are extraordinary. This happens no matter what the level of help they are able to give to their particular rare disease community. Some are able to do more. Some are equipped to help in a bigger way. This is where nonprofit organizations come from. Some of these people have a larger impact in advocating towards a cure for the disease that they are fighting against. I am inspired to love my son with special needs more fully as I look at the actions of those who care for kids that battle. Out of the community of those who care for kids that battle Batten will come those who inspire others by their actions. There are a few different names that come to mind and every opportunity given to talk about these people is greatly appreciated. Thanks for staying with me as I work my way towards that end. I remember attending my first Batten conference in Nashville, Tennessee and the very first night of being there. I ran into a young couple at the meet and greet that BDSRA has at the beginning of the conference and we struck up a short conversation. I soon realized that Dean and Melissa Pollman were from the same area within the state of Oregon that I was from. There we were together in Nashville and that is where I learned that their daughter Haley had begun her battle with CLN1 Batten disease. Melissa asked about where my interest in kids that battle Batten had originated from and I explained.
Anyone that has been to one of these conferences knows that they are crazy busy and that they can be a little overwhelming. My time with the Pollmans was brief but they definitely caught my attention with my being from the town that neighbors theirs. The conference was seemingly over in a blink of the eye and we all returned home. In addition to learning more about their daughter Haley, I also would soon learn that the Pollmans had started a nonprofit named Haley’s Heroes. Through the nonprofit they were raising an impressive amount of money for research towards a cure for CLN1. One of the means by which they raised money is through charitable events of all types. I had thought about attending one but had put it off for sometime. I suppose it was because of all the busyness of life. The time would come in which I would decide to bring myself and my two tagalongs to one of the events and I am glad that we went. I had a chance to meet Haley and her older brother Cole and also check out a Haley’s heroes event. I bet Haley was wondering who the old guy was that was staring at her until the time in which her mom introduced me to Haley. Up to that time, she had been running here and there with her friends. It was too cute because she looked at me when we were introduced and then looked back at her friends. She was quickly, off and running with the pack again. I was in no way offended by this, thinking that Haley was just busy being a kid. To me, she hadn’t even looked like a child that was affected by Batten. Haley is yet another beautiful little person that battles and that battle has continued since the time that I attended that event.
A Road Traveled Together
I guess I assumed that the Pollmans were too busy with life and their own work to consider working with me in telling their story. I found out that I was very wrong when I approached Melissa. She was more than willing to work with me and this is another opportunity that I am honored to have. So here it is. I hope that I can, as one might say, “do the story justice”. Like it is with a lot of stories that I’ve done, this one starts with two people that meet and fall in love. In this case though, it took a little while. Melissa Loring grew up in Salem, Oregon and like all of us, her life was a story in the making. It would take this part of her story a while to get started but it would all begin to take shape in 1984 as she reached the 7th grade. That is where she would meet her lifelong friend, Jennifer Pollman. Just like it is with most young girls who become best friends, Melissa and Jennifer would spend countless hours together. Much of that time would be spent at Jennifer’s house with her family. Among those that were members of the Pollman family was Jennifer’s younger brother Dean. At that time, Dean seemed like just an annoyance to Melissa. I mean, what else would you expect at that age and time in a girl’s life? She had no idea at that time that Dean would one day become more to her than Jennifer’s little brother. Much more. Each of their lives would head in different directions, but unknown to both of them at that time, their futures would include each other.
All of the usual things would take place for the two of them. That would include high school graduations and the achievement of career goals. Melissa had a desire to work in the business world and would one day in the future receive her Master’s degree in Business Administration. Melissa would be married for the first time and she would give birth to a beautiful little girl named Audrey. Her marriage however, would not last and it would wind up being an abusive situation for her. Melissa’s struggle would include working to keep her daughter in a safe situation and that no doubt, would provide a great deal of stress. In the process, Melissa’s strength of character was growing. As well, Dean’s life continued on but as Melissa put it to me, they both “battled demons”. They each had to grow as individuals before the time that they would be able to come together. Looking back on things, much of what happened for them separately had a part in bringing them together. Like Melissa, Dean had parented a little girl. She was beautiful and would be given the name Madison. Having Madison in his life, caused Dean to realize that his position was of great importance and the experience would cause him to grow as an individual. Seventeen years would pass from the time that they would meet as kids and after much had taken place, Dean and Melissa would fall in love. Melissa stated that they would still not come together until a little more than three years had passed. They however, stayed in touch during that time until the day that their separate journeys would become one traveled together.
Melissa would tell me that the song by the group Rascal Flatts, titled “Bless the Broken Road”, describes hers and Dean’s journey to find one another. I have to say that I did what any good writer would do after reading this. I went and searched for the lyrics and watched a video of the song being performed live. I have to admit that doing so caused me to get a little work up. This, as I realized that the song matched their story perfectly (perhaps minus the acoustic guitar, piano, and screaming girls on the side of the stage). So it was in 2005 that Dean and Melissa’s “broken roads” came together. They became engaged to be married. Dean and Melissa would become man and wife in March of 2006. Whatever the road that they traveled brought their way, they would now handle it together. The newly married couple, all at once, became a family of four. Dean would even adopt Audrey legally soon after. As Melissa would put it to me, “She (Audrey) is his and Maddie is mine.” They wouldn’t stop there, nor would they wait to have more children. Melissa would soon give birth to a baby boy. Dean loved both of his daughters but he now had a son who they named Cole. He was born on March the 11th, in 2007. It wasn’t quite time to quit increasing the size of their family as Cole came along. Dean and Melissa wanted another and this soon would take place. Just as was the case in times passed, Melissa would conceive and carry her baby without a major incident taking place.
The time would arrive in which Dean and Melissa would welcome their fourth child into the world and she was someone that would be very special. That’s right! Melissa would give birth to their third daughter. The guys in the family were now outnumbered but they wouldn’t mind one bit. Everyone welcomed Haley June Ruth Pollman into their family and they were now a family of six. That number seemed perfect to them! The day was August the 23rd, of 2009 that baby Haley was delivered. This would take place at Salem Hospital, named after the city she was born in, Salem, Oregon. Haley was perfect and she was a perfectly beautiful baby girl. She came to the Pollmans weighing in at 6 pounds and 11 ounces and to Melissa, the experience of holding Haley for the first time was “magical”. At this point in time, everything seemed so perfect and who could argue that it was not? The Pollmans were a blended family but they would have to tell you that in order for you to know it. Regardless of the difference in ages with the siblings, they would draw very close to one another. They were just three sisters and a brother. Dean and Melissa were parents to four wonderful children. All four were loved and everyone loved being together. Haley was the baby and she was a girl. That should be a position of honor, times two, in any family. Heaven help you if you were to bring Dean’s baby girl home late from date night, or mess with Cole’s little sister. Haley was always to be the baby of this family but don’t let me jump too far ahead.
Just like it would be with the rest of us, there was no way that the Dean and Melissa could see what the future held for them. There was no way that they could know the special circumstances that would surround Haley or, how all of their lives would be impacted by this beautiful little girl. They only knew that they had someone special in their midst. There was another reason, in the immediate, why Haley would be viewed as an extra special addition to the family. Unlike it was with Cole, the Pollmans had sought to find out the gender of their fourth child prior to the delivery. You see, Dean’s sister Jennifer and Melissa had both been pregnant at the time when Melissa had been carrying Cole. They both were excited to be pregnant together. The babies would be born three months apart and Jennifer had given birth to a little girl. She named her newborn daughter Lola Jolie. The very sad part is that Jennifer would lose her daughter to Sudden Infant Death Syndrome (SIDS). This would take place in September of 2007. You can only imagine that Jennifer and those who are close to her were devastated by this. That is why Dean and Melissa felt that they needed to find out the gender of their fourth child. They would actually call Jennifer from the ultrasound to tell her that Melissa’s baby was a girl. Jennifer would be the first person to know! This is one reason why, until this very day, Jennifer and Haley have a very special relationship. Melissa further explains, “Haley, in a way, helped heal Jennifer's heart. I believe with all that I am that Lola is Haley's guardian angel.” This is, no doubt, a very close knit family.
The Complete Lifestyle
Everything had come together for Dean and Melissa. They had found love for a lifetime and had formed a family together. Things were seemingly perfect. Melissa was able to stop working outside the home as the Pollmans grew businesses of their own. Dean and Melissa would grow in the business world to the point that they would own a construction company, a storage company, and two manufactured home parks. They had found success by anyone’s measure. The kids were healthy and thriving and things were as they should be. The Pollmans had built a firm foundation within the Willamette Valley here in Oregon. They had both grown up in Salem, gaining many friendships over the years. This was in addition to having extended family in the area. There would also be many new acquaintances that would come through their business ventures. They had no idea at the time but all these people put together would become a network of support for a major challenge that was yet, not seen. Life was busy but life was just the way that this family had hoped that it would be. The Pollmans would work hard in order to have the life that they wanted and that included lots of opportunity to make memories together. There were fun times and time spent together on the weekends. Everybody loved little Haley. She was the youngest and so full of energy. She did and said the cutest things, just as you would expect.
According to Melissa, Haley was super independent and very active from the start. She was quick to walk and to start talking. Haley loved to climb. Melissa would find little Haley at the top of heights that showed she had no fear. Climbing to the top of appliances was not an issue for her. No matter how high up they were. Melissa explains, “My washer and dryer sit on storage drawers so the tops are about 5 feet up in the air. One day I walked into my laundry room and Haley was sitting on top of the washing machine singing and playing.” Kids are the picture of innocence and that is one of the reasons that we so enjoy being around them. Their inquisitive little minds and the joy that they have for living is a cause for joy in our own lives. You know, we rarely mind answering all of those innocent questions that are asked as their minds soak up new information. This is part of what we were put on this planet to do! Speaking about singing, Melissa said that Haley “lived life with a song”. As soon as Haley started to talk, she also started to sing and I just bet that she sounded sweet with each song that she sang. Haley loves music and she makes her own songs. In the back of each parents mind is the question, what can I expect from this child as he or she continues to grow? What might they be one day? Whatever the case might be for Haley, she had gotten off to a great start. She had met or exceeded all of her early milestones and she even started school early. Haley was ready for school!
Every parent can expect issues to come along as their children grow and develop. We handle things as they come to us. It is just part of parenting children. Learning disabilities or medical issues can show themselves but most often, the things that come along can be dealt with. There is usually a resolution to problems that kids face as they are growing. Sometimes, there are bigger challenges but even those are challenges that can be resolved. Haley’s growth and development would continue and she would remain right on track.This, as she reached the first grade. Everything looked to be going great with her. It was now June of 2016 and Haley was reading and writing by the end of the school year. As summer arrived, something began to change with Haley. Her parents noticed that she was beginning to sit closer to the television set and this was an indication to them that something wasn’t right with her eyesight. On top of the of what was being noticed as she watched TV was also the fact that she wasn’t seeing as well at night. As the new school year began, Haley’s teacher started to see a change in Haley as well. Haley was beginning to have an issue with her reading and writing. She had regressed in her abilities in this area. The obvious conclusion was that Haley needed glasses. Her poor vision had to be the cause of these issues.
It makes perfect sense that Dean and Melissa would start their search for answers by taking Haley to an eye doctor. Everyone had to be hopeful that helping Haley was as simple as finding the right prescription for corrective lenses. There is no way that anyone could expect there to be a problem with anything beyond her eyesight at this point. Haley would get fitted for glasses but that would not seem to help as her vision would only continue to get worse. Melissa said that they would be in and out of various eye doctors offices for about twelve months. This had to be very frustrating and even more so as one doctor even claimed that Haley was just acting out in order to gain attention. What an outrageous comment for any medical professional to make. Melissa stated that Dean knew better. He knew that this was just not true and he would tell the doctor that she was wrong. He had been watching Haley when she wasn’t paying attention and it was obvious that something was not right with Haley’s vision. Dean’s insistence that there was more going on with Haley would pay off as this doctor would listen and then refer them to the Casey Eye Institute at the Oregon Health and Science University (OHSU). OHSU in Portland is a very fine medical facility and it would be there that the Pollman’s would meet Dr. Mark Pennisi. The doctor would end up ordering an entire battery of tests and like a champion, Haley would endure all that came her way. There have been so many stories that have been written of families having to endure a long search for answers.
Many times, the search will include visits to various doctors and the family will receive incorrect diagnoses’ in route to finding the truth. Generally, the diagnosis gets worse with time. Things have seemed to have gotten better as people in the medical profession have become more aware. Regardless of the length of time it takes, there is no way that one can be prepared for the eventual outcome when the diagnosis is Batten disease. One of the tests that Haley would undergo is called Electroretinography (or an ERG). The test measures the electrical response of light-sensitive cells in a person’s eyes. These cells are known as rods and cones. Something like Cone-rod Dystrophy could have been the suspected culprit in Haley’s case but there was more to this diagnosis. The knowledge possessed by Dr. Pennisi in combination with the results of the ERG and other testing brought the doctor to a conclusion. It would be in the Fall of 2017 that the Pollmans would receive the worst possible news that any person could concerning their child. Here it is in Melissa’s own words, “That day is burned into my brain. Dean and I were huddled in a small dark exam room at Kasey. In walks Dr. Pennisi and several other doctors in training. It was white lab coat overload. Dr. Pennisi did not mince words. He said "It's not good. Based on my experience, Haley's rapid sight loss, and her test results ... I believe Haley has Batten disease. Batten disease is a rare disease that gets progressively worse over time. There are not cures and it is fatal"’
More Than Expected
No doubt, the Pollmans were completely shocked by the severity of the news that they were given. Based on Haley’s age, the doctor had initially felt that she had CLN3, Juvenile Batten disease. However, a genetic panel would be ordered for gaining a verified diagnosis. Bloodwork would be drawn and the testing would be performed which would soon reveal that Haley had CLN1 Batten disease. She never cried, not even once during all of the testing. She never complained. Life, as Dean and Melissa had known it, had ended at the moment that they received the news concerning the Batten diagnosis. This little girl was that special person to everyone in her family. She was Dean and Melissa’s youngest child and the little sister to all of her siblings. She was the one that was always singing a song because she was so full of life. She meant so much to so many. The Pollmans now knew that they were on a journey with Haley. They would leave the doctor’s office feeling that there was no hope. There was nothing that the medical community could do for Haley. It was difficult for them to know at that time but Dean and Melissa had been spared a long road to a diagnosis for Haley. This was due to the training and experience of Dr. Pennisi and the fact that they had been referred to him for Haley to be seen. It was about a year from the time that Dean and Melissa had first started noticing symptoms until she was diagnosed.
There is never a good time to receive the news that your child has something like Batten disease. However, I would think that knowing the truth allows you to process the information and take whatever action is available sooner. The Pollmans would take action but there were some things that they had to take care of in the immediate. An important and very difficult thing to do was to break the news to Audrey, Maddie, and Cole. How do you break this kind of news to kids? This has to be a most difficult thing to do but it is something that has to be done. Kids are internet savvy these days and answering their questions is the right thing to do. Melissa described the experience of having to break the news to Haley’s siblings in this way, “Watching them crushed under the weight of the news was heart wrenching. We encourage them to ask us questions. We are committed to answering them honestly no matter how hard.” Melissa admitted that it would be so easy to focus solely on Haley and their own pain but they are both intelligent people. They know that checking on each of Haley’s siblings is important. They do not want Audrey, Maddie, and Cole to become “invisible children.” Furthermore, they want them to develop as individuals. All of them developing in lives that are separate from Batten disease. Those of us that follow the Pollmans on social media can see that they do a great job of balancing everything that life has brought their way.
They have to balance Haley’s needs and their fight against Batten disease with the rest of family life and their business ventures. All of this is part of the whole and all of it requires their attention. The Pollmans quickly grew to be a close knit family and this was fostered by doing lots of activities together. Work has always had as a purpose, the ability to do fun and fulfilling activities together as a family during hours away from work. Batten disease would not take this away from them. With Batten, the grief is ever present and the awareness that life is not guaranteed is in the forefront of a person’s thinking. Living in the present time becomes even more important and enjoying what you have now is something to focus on. Enjoy every moment! I think that Dean and Melissa have done a good thing to have each person get involved with a counselor. This, in order to discuss their grief with someone that is qualified to listen. While this could be seen as a sign of weakness to some, it is really a show of commitment to being as healthy of a family as is possible. It really just helps to talk things through sometimes. The kids do counseling and Dean and Melissa also do couples counseling. Melissa explains the need for this, “Grief is so individual and personal. In order to lead our family through this and not allow Batten disease to steal everything from us, Dean and I realized it starts with our bond. Counseling has helped us extend grace to each other and our children.”
Melissa does feel that Batten disease is responsible for causing personal growth to occur in her. This does make sense although this writer would think that there was already a great deal of strength of character there. Melissa believes that because of Batten, she doesn’t sweat the small stuff as much as she once did. As a family, they don’t completely know what the future holds. This lady, who by nature is a planner, says that she tries to not look too far ahead. This is not to say that the Pollmans are not people of action. They truly are that. Like several other families in the Batten community have done, the Pollmans created a nonprofit foundation in hopes of creating change. They wanted to do everything that they can to help find a cure for Haley and the others that battle CLN1 Batten disease. With the advent of therapies like Gene Replacement comes hope towards a cure. Researchers have created a reason for hope and optimism and helping to fund this is of the greatest importance. This is why Dean and Melissa Pollman formed the nonprofit foundation which they would name Haley’s Heroes. The network of support that they needed would, in large part, already be in place. The people that I had written about earlier, who were already acquaintances or friends and family, became Haley’s Heroes. There are a lot of people that love this little girl and at the same time, admire her parents!
What the Pollmans have already accomplished through Haley’s Heroes has been of the greatest importance. Research leads to treatments and a cure. There is no other way. It all begins with raising the funds that are needed for researchers to do their work. It is also important that the funds are given to worthwhile projects. Through Haley’s heroes, the Pollmans have been able to fund several research grants. Important research, like that which is done using sheep, has already taken place because of the contributions made by Haley’s Heroes. As I have continued to write and have branched out a bit to other rare disease communities, I have found that gene replacement has become a reality for them. Those who follow kids that battle Batten know that Gene Replacement Therapy has also become a reality for some of the kids that battle CLN6 Batten disease. There is room for optimism. However, for the parents of kids that currently battle CLN1, and other variants of Batten, new therapies cannot come soon enough. For them, it is personal! Dean and Melissa understand this in a big way and they are giving this effort their very best. Melissa makes comment on their continued goal for Haley and what has already taken place, “Although none of the research we have funded will immediately result in therapies it is critical to shaping future therapies. Our goal is still to fund a cure or therapy to save Haley and children like her.”
The Pollmans understand that the work that they are doing may not bring about the therapy that is needed right now for Haley. Many might just step back, believing the situation to be hopeless. That is not the approach that this couple is taking. Melissa explains, “It hasn't stopped our resolve! It hasn't hampered our hope. We will continue to fight Batten disease for Haley, because of Haley, and in honor of Haley. In a phrase, she is worth it.” Whereas the Pollmans had sought a normal type of lifestyle through hard work and family involvement, life has taken on a new dimension. Yes, Dean and Melissa are parents to four special kids. They have been successful in their business ventures. Now, however, they are rare disease advocates and more specifically, advocates for kids that battle CLN1 Batten. They are working hard for Haley and all the others that battle like she does. Melissa explains in part, the vision that they have for Haley’s Heroes with this, “My vision for the Haley's Heroes Foundation is to unite the CLN1 community and unite the Batten community as a whole. We are stronger together. I want people to know about Batten disease. I want more rare disease awareness. Knowledge leads to change. Change leads to lives saved.” There are a number of families that come to mind when I look at the Pollmans. I think about how Dean and Melissa’s pursuits in life have, in large part, been redirected. Yes, there are more memories to be made as a family and there is more fun to be had.
There are all of the normal kinds of things to be done together as a family but there is also this mission. A clinical trial could come at anytime now and that is what we hope and pray for. Whatever the case may be, the Pollmans have a vision for Haley’s Heroes. They will continue to work towards the things that they want to achieve for the CLN1 community and kids that battle Batten as a whole. They are looking to expand the work of the foundation while Melissa also gives Haley and the rest of the family her very best. She explains how she plans to do this, “I can not do it alone. We need support. We decided to grow the foundation and plan to hire a donor relations manager who can work full time to execute the vision and mission.” Something tells me that this couple will continue to give this cause their all while also maintaining a firm foundation for their children. Just like many of the other couples who have battled alongside their children, the Pollmans have become very well connected to the rest of the Batten community. Melissa has caught the attention of many of the other Batten moms, and mums in the UK, one of which is my friend Gail Rich. She, of course, has two beautiful girls that battle CLN2 Batten. Gail had many great things to say about Melissa and I will share a little bit of that with you here, “Melissa is a very inspiring person, from the focus and importance of family life to how Melissa connects with Batten families who are going through similar struggles. Optimistic, encouraging and supportive ... Melissa has always been so kind. This, in messages in response to posts and events we have shared to help raise awareness of Batten disease.”
So many people have now viewed the TED talk that Melissa presented to an audience not that long ago. TED is simply a nonprofit whose goal is to facilitate the spread of new ideas. It has gone from having the convergence of technology, entertainment, and design as its root to hosting talks about all types of issues. This forum gave Melissa an opportunity to tell many about their battle with Batten while inspiring people to think outside themselves for the good of others. She did a magnificent job during her TED talk and she has inspired a lot of people through it. Again, one of those people is my friend Gail Rich and I will share here what she had to say about it, “I was once directed to Melissa’s ‘Ted Talk’. I had no idea what a ‘Ted Talk’ was, but I researched and then watched Melissa talk. I connected so much when Melissa talked about life before Batten disease and then, how they received the news of Haley’s diagnosis. It was not only interesting to find out more about Melissa and her family but it was very inspiring to listen to. This, in how they took the news of their beautiful daughter Haley and applied a practical approach to searching for answers ... making a difference to the BD community through Haley’s Heroes.” Melissa has inspired many through her actions and this includes her TED talk which was very inspiring. I know that any person whose life has been changed by something like Batten disease will never be the same. It’s just a fact that going through something like helping your child fight a rare disease changes a person. Many families will continue to stay involved until the day that there is a cure.
The Pollmans fit into this group because they are committed to helping their daughter and other kids who battle CLN1. And still, they would rather just have their daughter to be healthy and whole. They would rather trade any pats on the back that they might receive because of the contribution they are making for Haley’s to have good health. This is a family that is in a battle with Batten disease and they just want their daughter to have a chance at life. Haley is one very special and brave young lady. The Pollmans have always been a very active family. There are all the usual types of things going on. There are school sports and activities taking place. Family get togethers and special events happen frequently. Snow and water skiing and fishing and hunting trips and you name it. They do things together and that all increases the strength of bond that they have with one another. Haley has always been a part of that and the family has not let Batten get in the way of them doing these activities together. They have watched Haley decline over the last three years with the last seven months being the worst. Melissa feels that the restrictions related to COVID-19 have been a big contributor. Haley has been home-bound much of the time that she would have otherwise been attending school. Regression has taken place in Haley. There have been struggles and disappointments that have come with the regression and advancement of the disease.
Living to the Fullest
Just like it was with her siblings, Haley was being taught to do all of the fun things that the family enjoys doing together. One of those was wakeboarding. Haley loved it but sadly, she was unable to wake board this summer. This is because of the progression of Batten disease. One of the things that is so amazing about these kids is the resilient spirit that they display through their actions and attitudes. They show disappointment when they are unable to do the things that they once could but they almost always bounce back. That is what resiliency is. I’ll let Melissa speak for herself as she describes with her own words what happened on a day in June of this year, “This June was the first time she was unable to get up wakeboarding. That was hard to watch because she was sad and frustrated. Hearing her cry ‘I couldn't do it’ broke our hearts. Haley is one of the most positive and sweet people I've met. True to her personality, she didn't let it upset her for too long. About 10 mins after she cried about not being able to wake board she looked at me and said ‘Mom I did it! I wakeboarded’. Yes, sweet Haley you did. She continued to try the following days. That is Haley to a T! She is fearless and tenacious. She doesn't let failure keep her down. She remains positive.” Melissa shared that Haley is not unaware of her disease. She stated that Haley once told them that “her brain is fuzzy”. Haley knows that she has Batten and has asked if it will take her life. Is there anything that would be more difficult to talk about with your child? Melissa said that Dean and herself both believe in being “age appropriate honest”.
Haley has to be one strong little lady. I think that is apparent. To have limitations that once weren’t there and to have knowledge concerning the fact that she has crippling disease. All the while, she deals with it in strength, modeling the resilient attitude that we have talked about. I repeat myself a lot because prevailing thoughts come to mind frequently. These kids are amazing. They always find a reason to be happy, bouncing back from the disappointments that come as the disease progresses. For instance, I don’t know how I personally would deal with losing my eyesight. I hope that I will never have to find that out for myself. However, if I do, I hope that I can deal with it in the way that these kids do. The way that they model the ability to bounce back after that kind of a loss is profound. These are children that we are talking about. Melissa says that she and Dean take direction from Haley. They encourage her to try new things and to stay active. Things that are noticeable are dementia and short term memory loss. Those are the kinds of things that should only happen to the aging. This, in itself, would be heartbreaking but Haley also hallucinates. Melissa gave me an example to share, “She hallucinates about a spider/butterfly named Hannah. Hannah causes her grief so we as a family always tell Hannah to "go away". Sometimes we feed Hannah to our dogs. Haley thinks that's hilarious!” Perhaps kids that battle aren’t the only ones that are resilient in a Batten family home.
Those that care for kids that battle batten have my deepest respect and admiration. I know the parents are just doing what needs to be done but what is required is much more than what most of us will ever see. It is a good thing that the Pollmans have done with their business ventures because it allows Melissa to be home for Haley. This, because Haley is needing increased assistance with everything as time continues. I am certain that as the level of care for Haley increases that the bond between her and Melissa (and family) has increased as well. A love that is profound and undying. Sleep has become an issue for Haley and she also experiences night terrors. These kinds of things are hard to write about but they are part of what a Batten warrior like Haley experiences. Melissa often lays down with Haley in order to help her settle at bedtime. She is not as independent as she once was. Haley needs Melissa’s help with her daily activities but she is worth every bit of extra effort that it takes. Dean often steps in when he gets home at night, just like a great father would. The Pollman’s extended family is very involved in their efforts and they step in to help whenever possible.
Melissa said that Haley has several therapies that she goes to and members of their extended family often take Haley to those. She is so worth the time and added effort. Haley is another one to melt your heart, just as these kids usually are. The term comes to mind frequently. Haley loves riding horses through an organization named Horses for Hope. Her Aunt Jen takes her to this particular therapy and they really enjoy that time together. Every bit of time that Haley and Jennifer get together is time that is enjoyed. Jennifer shared with me that next to her husband, Haley is her most favorite person to spend time with. This even though Jennifer loves all of her nieces and nephews. As we talked about earlier, Haley came into Jennifer’s life as a newborn at a time that she really needed her to. During the time frame that she had lost her infant daughter to SIDS. As Haley made her entrance into Jennifer’s life, the bond was instantaneous and it has remained strong. Do you think Haley was an angel that was sent to Jennifer? As it turns out, they both share a zany type of personality and both of them love to pull innocent pranks on family members. Jennifer shared a few things about her love for Haley and here is some of it in her own words, “Everything about Haley brought, and still does, bring me joy. She doesn't say much anymore but she likes to sneak up on people like a little ninja with her cute grin. The family gives me a hard time because Haley can do no wrong in my eyes …. and it's true.”
Everything that you could imagine, Jennifer and Haley love doing together. From something like a simple trip to the grocery store to snow skiing together. Haley always had a cause to sing a song when she was around her Aunt Jen. Haley would take every opportunity to make the most out of life and that still stands true. Haley cares deeply about people and she still shows it in ways in which words are not needed. You can only imagine what watching Haley’s plight unfold is like. In finishing one comment to me, Jennifer stated, “My heart is so broken.” Somehow, I am unable to respond to this, using words that are adequate. For Melissa’s part, she just wanted to be a mom and to find success in all of the facets of life. Parenting, work, and enjoying time with family. Now, however, both she and Dean have found themselves in a battle for their daughter. This one is called by her family, their “Haley Bug”. Sometimes her pet name is shortened to just “Bug”. It just seems so unfair that her life would be slipping away from all who love her. Haley truly does battle Batten and she is giving this a very valiant effort. Melissa says that Haley still interacts with friends that she has had since preschool. She will leave an impression on all who meet her. I know that she did on me, even during such a brief encounter. Then again, I love kids that battle Batten. There are two companies that had potential for beginning a clinical trial involving gene therapy. One is a company named Abeona and the other is Amicus. Abeona has since, sold their gene therapy platform. It was purchased by a company named Taysha Gene Therapies.
Hoping for Hope
It would be our hope that one of these companies would come through soon for kids that battle CLN1. Melissa is praying that they will soon open up the trial and also that Haley will remain a candidate. I’m praying for the same thing. Melissa has been in contact with Amicus and they are helping her to feel hopeful. She feels that they have a great team of researchers but whatever the case may be, the trial could not come soon enough. We so need this for Haley and the others that battle with CLN1 Batten. Melissa stated that it is imperative that the clinical trial move forward so that those involved can learn from it. There is no doubt that once a parent is given a diagnosis like Batten for one of their children, they will never be the same. These kids change us, in one way or another. They change people’s perspective and way of thinking. They teach us the things that are important in life as the trivial matters in our existence fade away. Haley is a very special young lady and knowing what she is going through is heart wrenching. Nobody knows the experience of being close to one that battles like the parents themselves. Especially when we are talking about a mom. Melissa shares a little bit about the changes that have taken places with her personally, “I hate Batten disease. I wish I had never heard of such a disease but I do think I'm a better person for it. I'm more patient. I extend grace more often. I take more time to slow down. I hope it's made me a better parent. Weirdly, I think it's helped me during this pandemic. We do our best to keep our family safe while balancing living.”
It may sound as if I have written much of this story in a matter of fact kind of manner. I don’t mean to give you the impression that I am thinking in those terms. This is such a difficult thing for any family to go through together. Although I have not spent a lot of time around Haley personally, I did have the opportunity to meet her and I know how much she means to her family. Remember, this is the baby in the family and everybody’s baby girl has Batten disease. She is her family’s Haley Bug! These stories are beautiful because of the details concerning the love that exists between kids that battle Batten and those that care for them. It is a kind love that to me is like none other. The depth of feeling that is felt for someone like Haley is obvious. She is so innocent and yet she is going through something that just tears us apart inside. Haley is a beautiful young girl. Her life will affect the lives of her family members like no one elses possible could (It already has in a big way). More kindness and more affection will no doubt be poured out. Along with the broken hearted state that exists is every sweet memory that is being formed. There is hope, and Haley continues to battle, but we do need a cure and it can’t come soon enough. How will the work that is being done by Haley’s Heroes affect the rest of the CLN1 Batten community? I agree with Jennifer Palermo who is a mom to a darling little girl named Amelia. Amelia is another little warrior who battles CLN1 Batten. Jennifer stated that Melissa is a fierce advocate for Haley. She is aware of the fact that the work that is being done by Haley’s Heroes is helping to bring about progress. Every amount of effort that is put forth is part of the solution.
I have now heard several different Batten parents state that they do not look too far ahead. They take life as it comes to them, trying to live for that day, taking each day one moment at a time. This makes sense because I think that looking too far down the road brings about worry concerning things that you cannot control. I think that the Pollmans have the right philosophy concerning how you go about handling something like what they are facing. They are giving this battle everything that they have while maintaining a home life that is very family orientated. With the following, Melissa shares a little bit concerning their approach to their situation, “We have lived for the past three years with the unknown and will continue to do so. We have no idea what tomorrow holds for our family. For this reason, we have chosen to not live in fear but to live to the fullest. Don't get me wrong, we aren't taking unnecessary risks but we aren't putting our lives on hold either.” Melissa made the statement that “loving Haley is easy.” This writer believes you Melissa. I absolutely do! Melissa explains a little further as to why Haley is so special and so loved by her family, “She is sensitive to others feelings. She is sweet natured and full of life. She is fearless. She LOVES big, especially her sisters and her brother. Haley is a jokester. She has a great sense of humor ... There is nothing better than being with my family. Watching our four kids interact and how they love each other fills my heart. The love I feel for Haley and all my children is more than I can put into words.” And yet, there is one that battles and that one is a princess, affectionately known as the Haley Bug. Keep fighting Haley. That’s a pretty special you have there! Thanks for taking the time,
Blogger and Advocate
“We’ve decided that, rather than spending the rest of the time we have with him being sad, we’re going to enjoy our time with him and his siblings as much as we can. We’re going on adventures, spending more time playing together, snuggling more…doing the things we have always done but with less wasted time.”
Kiernan’s Mom and Advocate
I hope that my readers do not mind me drawing from my experience of being a father to someone who has special needs. That is from the things experienced by being Benjamin’s father. Some things we can draw from to create comparisons. That being with the things that we share in common with those who have children with rare diseases. I am always careful to draw a definite line that needs to be placed between our circumstances and theirs. Parents that receive a diagnosis that says that their child is fatal will experience things that are beyond anything that we have been through. The story that I am headed towards as I write these words will detail the journey of a family that will experience more than we have seen. This is because rare circumstances create an experience that is not seen by many. Being a parent to someone with special needs never crossed my mind as we began to raise our first two boys. Perhaps we should have left things there but our family did not yet seem complete. We wanted a little girl but that was not to be. Instead, we were given the opportunity to be parents to one very special human being. This, being our son Benjamin. Life seemed so normal up to the point that we had him. It was a normal go to work to raise a family kind of an experience. Things changed after we had him and we had to learn to adapt. Certainly, my life revolved around providing for my family but the extra needs that existed were never far away in my thinking. Much was left to my wife as I had to work to support my young family but I stayed involved as much as I could.
Our son was sick a lot and that required more time at the doctor’s office. There were battles over insurance coverage for things like durable medical equipment and things they would not cover. There were trips to the hospital and surgeries that otherwise would not have been needed. Getting him services that were needed required a lot of work. There were days that my wife’s frustration boiled over after dealing with various people over the phone. Everything from getting a handle on constant ear infections to controlling seizures were dealt with. We were never told that our son’s condition was fatal, although we were once told that it appeared to be degenerative in nature. This was after genetic testing was performed at a young age. Here it is, 30 years later. We have seen some of his skills start to deteriorate but he is still with us and we are happy to have had him in our presence. He is a special guy! While there are some ways in which our circumstances have been similar, there is nothing like having doctors reveal to you the fact that your child has a fatal disease for which there is no treatment and no cure. I think that being the parent to someone with special needs is a special experience. For a long time, I have felt that being a parent to one like our Benjamin is a special calling in life. Those who have children with a rare and fatal disease would love to have been dealt the same hand that we were. Many start their journeys believing that their child has a condition that they can live with. However, as the search for answers progresses, the news worsens.
Sometimes, more than one diagnosis is received with each one being progressively worse. Whatever the case may be, I believe that being a parent to one of these rare kids is a special calling as well. This, even though there may be much sadness involved. You have never loved to the degree that a person does, until you have loved a child with a rare disease. Call me naive, but I do believe that these kids produce in us a type of love that is like none other. Working through the heartache in order to care for a rare child like this produces in people a type of love that is profound and undying. There is a bond formed that is stronger than any other. Knowing the plight of a child that is on a rare journey and seeing how hard they work at just living a child’s life does something inside of a person. There are feelings produced that can’t necessarily be described in detail. It’s the type of love that can overwhelm a person. These kids can change people and also the direction of a person’s life. They often do that! There is always hope as awareness is raised and the promise of clinical trials come about. In some cases, positive results occur. What may happen for one family in the way of progress towards a cure can often bring hope to others. A breakthrough in research for one type of disease can happen for another. I have mentioned this previously and the thought comes to mind once again. This, as we begin a story about another child that has embarked on a journey with Sanfilippo Syndrome. Would it not be wonderful if the parents of a rare child could say, “My child was found to have a rare and fatal disease for which there is no cure, but then, there was this clinical trial ... “?
Two People Meet
This next story takes place in the great state of Tennessee, here in the USA. Like so many of the stories that I have done about rare children, this one starts with two people that meet and fall in love. This is that type of story and it’s time to get started. The story began in 1995 when Shaun O’Neal and Amanda Ogle met while attending high school. It was no accident that they both had French class together and that is where they caught each other’s eye. Shaun was a junior at that time and Amanda was a Sophomore. They didn’t begin to date right away as that began to take place starting in 1996. Shaun was at that time, 18 years old and Amanda was 16. It was as they started dating that they quickly realized that they were something special together. Shaun and Amanda knew that they were meant for one another. They would however, take their time and they did not rush into things. Shaun and Amanda would date for three and a half years and in the course of time, they would make plans to marry. It would happen in March of the year 2000 that this couple would become man and wife. During this time together, they would talk about their plans for the future. Amanda had a desire to teach and would pursue a Masters degree in education. Shaun wanted to have a career in law enforcement and that he would do. He began to serve his community, working at a local police department the same year that they were married. This couple’s plans for their future also included having a family after they were established in a career. Amanda would continue with her education, earning her degree and beginning to teach. It was during Amanda’s first year of teaching that her and Shaun would receive some very welcomed news. They were going to have their first child.
Things were coming together for this young couple and they were so excited as the time arrived for Amanda to deliver her baby. Both her and Shaun had met their goals for entering a career field of their choice and now, they would be parents. It would be in July of 2005 that they would welcome a little girl into their world. Nothing could be more special. They would name their newborn daughter Lierin and you just know that everyone that laid eyes on Lierin would adore her. She was born with all of her fingers and toes and she was so perfect in every way. Life was good and it was getting better by the day. Parenting their new daughter and anticipating new additions to the family led Shaun and Amanda to make a difficult decision. That being that it was best for Amanda to stay home and be a full time mom. She would do that after working in the teaching profession for a year and the couple felt good about their decision. They so enjoyed their time with little Lierin as they watched her grow and family life was to mom and dad’s liking. After adjusting to their new role as parents and enjoying their firstborn daughter for a time, the time seemed right to add to their family. Amanda would soon after be expecting their second child and the anticipation of their family growing was exciting. It would be in April of 2008 that Shaun and Amanda would welcome a baby boy into the family. This child they would name Kellen and just like his big sister had been three years before, baby Kellen was born healthy and whole. Shaun and Amanda now had one of each, a girl and a boy. Their little family was certainly coming together and the joy of having children was now multiplied by two.
Time would continue, just as it always does. Shaun was busy with work and growing as a law enforcement officer. He loved what he was doing for a career and he was especially pleased that he could provide for a growing family. Shaun loved being a dad and spending time with his family during off duty hours. That is a huge part of why we all work. That being to provide for the ones we love. For Amanda’s part, she loved the days spent with her two children, as well as, being a supportive companion to Shaun. As the two children continued to grow, the question as to how the O’Neals would handle their kid’s education would be at the forefront of their thinking. After discussing things among themselves, Shaun and Amanda would make the decision to have their children home school. This important decision was made in 2010, right before Lierin was to be starting kindergarten. There is some great curriculum out there for sure for home schooling but the O’Neals had something else going for them. That was the fact that Amanda was a trained educator. Why would they not take advantage of her training while providing a structured environment for their kids? Speaking of children, the O’Neal family was not yet complete and they would work on that! It would be the following spring that the O’Neals would welcome their next bundle of joy into the family. Lierin and Kellen would soon say hello to their new baby brother as Amanda would give Shaun another son. This little guy they would name Rory. Of course, just like his older siblings, Rory was a healthy and complete baby boy. He was loved instantly upon his delivery and the O’Neals were now a family of five.
Having two kids was wonderful but having three children made things feel complete. A family of five has a nice ring to it and a parent’s attention is certainly divided enough with three children. There was however, more for this family to experience together and they felt like something was missing. They did not yet know what that was but Shaun and Amanda did feel that something was missing for them as parents. Amanda explains that there was this urge to have yet another child and she talks about where it came from with the following, “After Rory was born, we thought we were done having babies, but all throughout 2013, Shaun and I kept feeling like someone was missing. We even accidentally ordered an extra kid’s meal at a restaurant more than once! We fought the feeling for a whole year before we decided to give in.” Someone very special would soon be on the way as Shaun and Amanda made the decision to have yet another child. There was someone who would enter their lives that would cause them to experience something that as parents, they had not yet known. They would experience things related to this child that would not be seen in the others. Shaun and Amanda would love this one as they did the other three. The only thing is that child number four would require more. Much more in the way of time and attention. Feelings that had not yet been felt would also be experienced. So it was in October of 2014 that Amanda would give birth to her fourth child. She would deliver to the family another baby boy and they would name him Kiernan. According to Amanda, Kiernan was in a hurry to get here. He was born at 37 weeks of gestation.
The Complete Family
While not being premature, Kiernan would come to this family a little early. This, while at the beginning of what would be considered the normal range of time (around 40 weeks). In addition to that, Amanda stated that Kiernan was born just seventeen minutes after the time that they would reach the hospital. Kiernan was born at Blount Memorial Hospital in Maryville, Tennessee, here in the USA. There was no trauma associated with his delivery but he did have a little bit of a problem with his breathing at first. The staff at the hospital would monitor this and Kiernan’s lungs would soon correct themselves without any time in NICU. You just know that he was a flawless looking little baby. He had all his fingers and toes and just like his sister and brothers had, Kiernan came to the showroom floor covered in brand new baby skin! Amanda felt nothing but “pure love” as she held Kiernan for the first time and who could not understand that? She held the person that would forever be the baby of the family in her arms. Not only that but she held the little person that was the missing piece to the O’Neal family. Shaun was a proud father for the fourth time and he was overjoyed with the experience. A love like none other would be experienced by everyone that Kiernan would meet and that would all begin as Kiernan met his parents for the first time. This writer knows from experience what it is like to be a parent to someone with special needs. However, the O’Neals would soon experience feelings beyond what I have felt. Kiernan was special in a very special way!
It is amazing how time flies and how quickly life passes by. It was now fourteen years since Shaun and Amanda had married. They were now the proud parents of four children and life as a family had really taken shape. They were active in life and in their community. Shaun was serving his community through his work and serving his family as well by providing for them. Amanda was now a full time mom that had her hands full. She was not only responsible for caring for her kids but she was also responsible for educating them. She was learning things along the way herself because as the old adage says, “You learn something new every day”. There were however, new challenges that were not yet expected but that would be revealed as Kiernan continued to grow. In the beginning, Kiernan would grow and excel in meeting his developmental milestones. His early development was normal and he would actually achieve his early milestones at a faster pace than his siblings had. Kiernan would begin to use his words about the same time that his brothers had but he didn’t start speaking in sentences as early as they did. Moms are generally pretty observant when it comes to the development of their child’s skills. Amanda also had the experience of teaching her other children using her education as a foundation. As time moved forward, it was apparent that Kiernan was having a difficult time in certain areas. For example, he was having problems with his alphabet and with learning to count.
It is true that children do develop their skills at different rates of speed so Shaun and Amanda were not too worried in the beginning of things. They assumed that Kiernan would catch up when he was ready. It made sense at that time that they had no idea. There were special circumstances that surrounded their youngest son. There was something else more obvious and very concerning that was taking place with Kiernan. That was that he was unwilling to potty train. Every parent looks forward to the time that their child becomes independent in this way. Changing a child or supervising them in the bathroom can, of course, be very time consuming. Amanda would tell me that they had friends whose children were also late in potty training and so, they thought that Kiernan would catch up in this area as well. They had no idea at this time that there was something significant developing with Kiernan but more would soon be revealed. It was in March of 2019 that Kiernan was brought to the doctor for his 4 year old wellness check. While there, the doctor did take notice concerning Kiernan’s speech delay and she stated at that time that Kiernan would benefit from having speech therapy. The O’Neals were referred to their local school system which offered the therapy free of charge. Once the school office was contacted, the testing required for Kiernan was set up and this is where more would be revealed concerning Shaun and Amanda’s youngest child. They would test Kiernan in all of the key areas of his development and would find that he had significant delays. There were special circumstances surrounding Kiernan.
There are oftentimes situations in which children are just a little bit slower at learning. These situations can be turned around by providing the child with additional help but sometimes, difficulties like this can be an indication of a larger issue. Kiernan would be accepted into a developmental pre-k class at a local school and that seemed to be a good fit for his individual needs. The special type of attention that Kiernan would get in the program seemed to pay off as the O’Neals would see growth in Kiernan after he started school. This was noticed by Shaun and Amanda who also noticed that Kiernan would backslide a bit after breaks from the classroom. Kiernan would love going to school and doing so seemed to be a good thing for him. Although encouraged by what they were seeing, Shaun and Amanda had begun to resign themselves to the fact that something was “wrong” with Kiernan. They just did not yet know what that was. Child number four had special needs and he was bringing to the family special circumstances that would have to be dealt with. What appeared to be the problem at the time was that Kiernan had something like autism or Tourette’s Syndrome. Maybe it wasn’t one of those specifically but Shaun and Amanda thought that it was something along those lines. They began to do research on their own and while they did see similarities between what they suspected and what they were seeing in Kiernan, there just wasn’t a complete fit.
A Life with Kiernan
Whatever the case concerning Kiernan would turn out to be, Shaun and Amanda were in the process of preparing themselves. They knew that Kiernan’s special needs were going to require extra attention and help for perhaps his entire lifetime. Here is what Amanda had to say about the realization concerning Kiernan’s situation, “We had discussed the fact that he was unlikely to ever be able to live independently, and we were okay with that because we didn’t think that he would feel or realize that he was missing out on something.” There is a time in which parents of a child with special needs start to understand that caring for their special child may be a lifelong commitment. Some might see this as a burden while others see it as an opportunity to experience love in a special kind of way. People with special needs often evoke feelings in a person that may not otherwise be drawn to the surface. The extra care and attention that is required can create a bond that is strong and unbreakable. The bond that was being created between Kiernan and his family was one that was just that. Their love for Kiernan was growing by the day and there was nothing that would change that. They did know at the time that the love that they had for this little guy would be stretched to the degree that it was about to be. There are not many people that would tie the symptoms that Shaun and Amanda were seeing to a rare disease. Most would not even think to consider it at this point. Perhaps, only if there was a known case within the family’s history. It was actually what Amanda would refer to as “a bit of a fluke” that the events leading to Kiernan’s diagnosis would take place. This would all happen as Kiernan would receive medical attention for something completely unrelated.
Amanda explained that Kiernan was a chewer, meaning that he would chew on random objects that he would come across. In this particular case, he had chosen to chew on the end of a bungee cord and would end up getting it hooked in his mouth. As a result, he would develop an infection and that was why he needed to be seen by a medical professional. This would take place in April of this year (2020) and it would be at that time Kiernan would be seen by a nurse practitioner. The NP would deal with the infection but as he did, he noticed something about Kiernan. That was that his facial features were “coarse” in appearance and this led him to believe that Kiernan may have had a form of MPS (Mucopolysaccharidoses). He suspected either Hurler or Hunter Syndrome (MPS I and MPS II) and he wanted Kiernan to be tested genetically. Like with many things in the year 2020, COVID-19 would interfere with Kiernan being seen in person by a genetic counselor but an appointment would take place regardless. It would take a few weeks but a telemedicine appointment would take place on May the 12th of this year. Several questions would be asked by the genetic counselor at that time and she would look at Kiernan through the webcam. Amanda said that the counselor was sufficiently convinced that Kiernan could have a genetic disorder and she would have Kiernan brought in to have blood drawn the following day.
Having the suspicion that Kiernan had a form of MPS made the testing more simple to perform. They would do testing specifically for an MPS related disorder using a kit provided by the company BioMarin. It would take about three weeks to get the results of the testing and once they were received, the O’Neal family would be changed forever. There are not many families that would ever suspect that their child has a rare disease as symptoms start to appear. We would usually suspect that whatever the problem, the issues surrounding a child can be resolved through treatment. When a diagnosis for a rare disease is given, life takes on a different dimension. A family experiences things that the majority of people will never see in a lifetime. There are feelings felt that are impossible to feel unless you have experienced something similar. The families go on a journey with their child and that journey will take them down a road less traveled. It would, in fact, be revealed that Kiernan did have a form of MPS but it was not one of the forms that had been suggested. I’ll let Amanda’s own words explain while giving us her and Shaun’s reaction, “On June 8, we received the phone call that would forever change our lives. The nurse told us that the test was negative for both Hunter and Hurler, but that it showed that he had a condition called Sanfilippo Syndrome. That completely knocked the breath out of us.” There is no doubt that the O’Neals would have been completely dismayed had Kiernan been found to have either Hunter or Hurler Syndrome. However, there was a reason that the news concerning the Sanfilippo diagnosis was especially hard to be informed about.
You see, it was just a little while ago, this year at the end of April, that a friend of Shaun and Amanda had lost a son to Sanfilippo type A. It seems cruelly ironic that their own son would receive a similar diagnosis. How devastating it would be to receive this news concerning their Kiernan. This special little man who had made their family complete also had Sanfilippo Syndrome. Right away, Shaun and Amanda knew what this meant. Amanda talks about what their immediate response was and what the days that have followed have been like for them, “We were, as is to be expected, absolutely devastated. We didn’t know how we were going to go on with our everyday lives when our world was just upended. There were several days of crying followed by weeks (so far) of feeling completely physically, mentally, and emotionally exhausted.” Shaun and Amanda are, at this point, not that far removed from having received the diagnosis. Not far at all! Amanda stated that they would meet with the geneticist, Dr. Hamm, the day after receiving the diagnosis over the phone. This would take place at East Tennessee Children’s Hospital in Knoxville. They would receive more details about the disease and would be told that Kiernan has Sanfilippo type B. The doctor discussed what additional testing was needed and also what the possibilities for clinical trials might be. Amanda would tell me that her dealings with all of the doctors that they have come in contact with has been positive. They have all shown her family an attitude of compassion and all of them have been helpful. Many of the phone calls that they have received have been from the doctors directly and not nurses or other staff members only.
Having doctors that care and who are empathetic makes a tremendous difference. There are not many things worse than to be given the news concerning your child’s diagnosis in a careless fashion. I have done stories in which this had been the case. The parents are just left alone to deal with things on their own. All, while being despondent and heartbroken. This was not the case for the O’Neals. Not only did the doctors deal caringly with the O’Neal family but they communicated well with each other. Here is what Amanda had to say about this, “Our pediatrician has been very supportive, and she knew about the diagnosis before we told her. We were shocked because that was the first time we’ve experienced such good communication between doctors’ offices. Dr. Hamm has been amazing!” For his part, the geneticist has not only made mention of a clinical trial that Kiernan may qualify for but he is actively helping with trying to get Kiernan placed in the trial. Not just any trial will do for mister Kiernan. He has Sanfilippo type B. There are four types of Sanfilippo Syndrome. They have been given the designations Sanfilippo type A, type B, type C, and type D. These trials are never a one size fits all since each one is specific to the enzyme that is affected. The very good news is that there is a clinical trial that is available at Nationwide Children’s Hospital that may become available to Kiernan. It involves Gene Replacement Therapy.
To explain things in the general sense, this is how Gene Replacement Therapy works. It starts with having a scientist create a good copy of the non-working or missing gene. The gene is then placed in what is called a vector. That acts as an envelope that will hopefully carry the gene to places it needs to go within the body. The vector is a naturally occurring virus that is chosen to do the job and it is used after it has had changes made to it. Interesting for sure, using a virus to perform such an important function. It sounds simple but the task is complex. This is a one time treatment and not a recurring type of therapy, such as Enzyme Replacement. The hope is that the cells within the body that are being affected by the missing enzyme will soon begin to function normally after GRT. This is amazing stuff and it is something so many parents with rare children hope to see happen in time to help their child (or children). The scientists that work on these projects are to me, another group of heroic individuals. As this is being written, Kiernan is in the process of being evaluated for eligibility to gain entrance into the program. So far, it seems as though he is a likely candidate and both Shaun and Amanda are guardedly optimistic. Maybe excited at the possibility is a better way to put it! Would it not be wonderful if this family could tell people about how their lives were changed by a clinical trial for Kiernan? This, as his life, and the quality of it, had been extended into adulthood. Remember, there was a time when the O’Neals thought that they perhaps had a child with something like autism on their hands. They gladly accepted the fact that they may have a son that would need help for a lifetime. They were okay with that and this, I completely understand!
I have asked the question so many times now. What is it about these kids? What is different about a child that has a disease that is rare and fatal? Is it the fact that they have to work so hard at just being a kid? Is it that they display a type of innocent resilience that is not seen in others? Is it being aware of the plight that is created by their condition? Is it the fact that we know, they are only here for a time? Is it the way that we see them battle, all the while, doing so with a smile? This, for as long as their bodies will allow them to? Is it the things that they teach us about what is important in life? Perhaps it is all of these things put together and so much more. The importance of Kiernan’s life to this family cannot be overstated. He is a very special little man. Here is what his mom, Amanda, had to say about him, “Even before we knew his diagnosis, even before his developmental delays became obvious, we all knew that Kiernan was a very special spirit, an absolutely integral part of our family. Our love for him is as potent and life-sustaining as the breath in our lungs and the blood in our veins. Kiernan’s diagnosis has really brought home to us that none of us is promised tomorrow.” Knowing this has caused this family to enjoy each and every day that they have with Kiernan and each other. Spending time with family is more important than any material pleasure that can gain our attention. The hope and prayer of Kiernan’s parents is that he will be accepted into the clinical trial that they are applying for. They are so close at this point. It would be so wonderful to have Kiernan’s life extended into adulthood but the O’Neals will take nothing for granted. They are grateful for each day that they have with him.
This family has decided that they will do their best to give their best to Kiernan. This, by trying to be as upbeat as possible while enjoying the time that they have with him. That may be a very long time, especially if Kiernan is accepted into the trial. The families that have gained access to these trials have often seen positive results and one would expect the same for the Kiernan and the O’Neal family. I know of so many other rare families that are just hoping that a trial for their child may become available soon. Just like the O’Neals, these others are giving their children the best life that they possibly can. A love that is profound and undying. That is what I see when I look at the details for each one of these stories. All you have to do is to look into the faces of these children to know why that type of love exists. This is what the heart is capable of when love is involved. Regardless of what happens, they will make Kiernan’s life as amazing as possible. Kiernan’s siblings along with his mom and dad will give him the attention that he so richly deserves while dealing with difficulties that his condition brings with it. This is not always an easy task. Repeating a part of our opening quote, Amanda explains their method of dealing with the challenge before them, “We’re going on adventures, spending more time playing together, snuggling more…doing the things we have always done but with less wasted time.” They do not know in complete form what the future will hold but Shaun and Amanda will make the best of the present that they are capable of.
Kids that Amaze
Have you ever been charmed by a little person? By their actions and the cute things that they do? Kids in general are special and that is why we enjoy having them around. Rare kids, however, are the most special and the most amazing. This even though there are challenges associated with the conditions that they battle. Their presence fills any space that they find themselves in. Amanda explained the experience of having Kiernan at their house in this way, “He brings all of us so much joy, so much laughter, and, admittedly, a bit of frustration (though, we try hard to keep that at bay since we know he can’t help some of the things that frustrate us). He is one of the sweetest, happiest children we’ve ever met, and he spreads his joy to all around him. Everyone who is blessed to get to know Kiernan can’t help but fall in love with him.” And you know what Shaun and Amanda? I believe you completely! The O’Neals are not alone in this. Not by a long shot. In addition to family and friends who are very supportive, they have discovered the community that they are a part of through social media. Receiving the insights of families that have faced the same challenges has been a great help. I know that they will be able to make themselves available to new families that come on board as their children are diagnosed. Their friend Chester was previously mentioned as having lost his son Lucas to Sanfilippo just prior to Kiernan’s diagnosis. Chester has been a true friend who has provided tremendous help to Shaun and Amanda at a local level.
The O’Neals are very new to Kiernan’s diagnosis and I so appreciate their willingness to tell others about their experience. They are trying to stay in the present time while not dwelling too much on what the future may hold. This, while also trying their best to get Kiernan all of the help that he needs. Although it is difficult, they try their best not to let worry and negative thinking consume their days. The time that they have to spend as a family is too precious but still, they do have their challenges. I know that Shaun and Amanda have worked at building a positive family foundation for themselves. This writer knows how important to our communities the men and women of law enforcement are and we, at this house, thank Shaun for his service. I know that he is every bit as good at fulfilling the requirements of his profession as he is at being a husband and a father. You just know that Amanda is exceptionally qualified to be the Mamma Bear of the house. Shaun not only does the work of a police officer but he also works part time with cattle at a ranch operation. This helps give Kiernan exposure to horses, cattle, and life in the country. The family keeps egg laying chickens and other messy little critters at their modest homestead. Mister Kiernan also does therapeutic horse riding and all of this together, makes him a real cowboy. Kiernan’s older sister and brothers are involved in TaeKwonDo and have been for the last two years. Lierin, who is the oldest, has just earned her probationary black belt and she instructs. You go girl! You get the picture, right? This is one really neat family!
There are people at the O’Neals church, and from their community, that have fasted on Kiernan’s behalf and prayers are continuously being said for him and his family. There have been GoFundMe accounts set up to help with Kiernan’s medical expenses and other people have found creative methods for raising funds. This includes things like selling baked goods and providing window decals free of charge to sell. The help for this family from others is ongoing and so appreciated. I think that show of support means as much to them as the funds that are being raised. Amanda explains while mentioning a big and upcoming event and it doesn’t end there. Here is what she had to say, “One of Shaun’s lifelong friends is organizing a benefit for Kiernan on Halloween with raffles, food, and activities for kids during the day and then a more adult-oriented party at night. We’ve even received money, prayers, and well-wishes from complete strangers. I think the biggest and most important effect of all of this is spreading awareness of this devastating disorder to others in our community.” Just showing that a person cares means so much to families like the O’Neals. Especially in this age where a “Me first” mentality seems to exist.
I sometimes think about what it would be like to be free of the responsibility, but I don’t think about it for very long. My experience of being a parent to someone with special needs was, I feel, meant to be. The experience of being Benjamin’s father is part of who I am. He is part of my identity as a person. Life would have been so much more simple had we not tried for that little girl that never came. I am so glad that he is part our lives. So you must know where I am going with this. I am going to ask, was this family meant to have someone like Kiernan in their lives? Was he sent to them? Kiernan would end up being the “something” that was missing. Whatever the outcome may be, will their lives have been made richer. This by having Kiernan come into their midst so that they can experience the type of love that they have for him? This may be a bigger question than people would want to entertain but I thought that it was worth asking. Regardless, Shaun and Amanda will do everything in their power to help their son win the battle that is Sanfilippo Syndrome. This they will do while the entire family enjoys each day with Kiernan. I’ll end with one final quote from Amanda, “We won’t stop advocating for him or making sure he gets all the treatment he needs, of course, but we want to make sure that’s not all his life is about…that he can still live a fun, joy-filled childhood, knowing how very much he is loved.” This is exactly what one would expect from a set of loving parents. A person couldn’t expect them to be anything but that when we are talking about a little guy like Kiernan. Thanks for taking the time to read his story!
Blogger and Advocate
“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!
Blogger and Advocate
“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~
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. 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!
I would like to welcome to my blog Sanfilippo families, as well as, families in other MPS communities. I am grateful for every opportunity to write about those who battle an MPS disorder. This, of course, alongside their special children. This is a labor of love that is extended to each one of you! Scroll down to see MPS family titles.
Highlighting a previous blog that might interest you:
Forever Royal - The Final Version
One child in a family with a rare disease is a challenge. What if there is two? Heartbreak multiplied you pick up the cause and do your very best to make a difference. That is how a normal family becomes Forever Royal ...
Take the titles listed below and go to month and year listed in the archives.
January 2017 -
*The Story Between The Lines
February 2017 -
*I Know Just Where You Are
*My Kind Of Royalty
March 2017 -
*The Caring Type
*Face to face: A Fairy-tale
April 2017 -
*No Ordinary Love
*A Rare Friendship
May 2017 -
*Tyrell and The Rare Love Story
June 2017 -
*Seth and The Healing
July 2017 -
*Little John and The Reason
*Sands and The Scottish Princess
August 2017 -
*A Rare Kind of Devotion
*The Giggle Box
September 2017 -
*Sweet Montanna and The Status
October 2017 -
*The Blog About My Blog
November 2017 -
*Lydia, I Love You!
*Kayden And The Change In Plans
December 2017 -
*Those That Are Like Them
January 2018 -
*Nora Skye - I Know Just Where You Are
*Brock and The Priceless Memories
*Jamesy Boy and The Treatment
*The Priceless Princess From Beyond
*Forever Royal - Part One
*Forever Royal - Part Two
*That Kind of Love - Conner's Story
*What I See (She is a Butterfly)
*No Longer Alone - Kristiina's Story
*Things We've Talked About - Oscar's Story
*The Reason Why - Hannah's Story
*Kayla's Perfect Princess - Breanna's Story
*Where Do I Go From Here? - An information only blog
*Warriors Unaware - Mia and Kaleb
*Her Little Story
*Someone Like Raelynn
*Forever Royal - The Final Version
*Awfully Beautiful - The Life of Noah and Laine
*A Lifetime of Love - Tegen's Destiny
*Forever Beautiful - Gabi's Story
*The Miracle Baby - Amelia's Story
*Dylan's Life - A Small Town Story
*Princess Grace and the Challenges
*Anything for Tessa - Her Story
*Haley Bug's Battle - A Family Story
*Journey Unexpected - The Rich Family
Sanfilippo Syndrome and other MPS family titles -
*The Beautiful Light of Haidyn Grace
*Any Distance Traveled - Reagan's Story
*The Missing Someone - Kiernan's Story
Archives - Use title listed above with the applicable month and year.
Highlights from the beginning of gregster60.com -
Benjamin's Daddy - March and June of 2016 - Revised May 2017. Titled Benjamin's Daddy Revised.
My Fearless Adventure - April and May of 2016
A Different Type of Warrior - January 2017
Larry - February 2017