“Having an almost 2 year old and 4 month old twins, I was overwhelmed! But I felt blessed, because they were ‘healthy’ and so on this day I chose the mantra ‘They're healthy, they're healthy’. I'll never forget that moment and how I felt.”
Batten Mom and Advocate
It is always appreciated when I come into contact with people that can provide insight for an area that I wish to write about. While I am a parent to a young adult with special needs, I still have much to learn about what it would be like to care for someone with a fatal childhood disease. What is it like to experience what these families go through on an emotional level? I know that the answer would seem to be obvious but understanding can help lead us to empathy and that is one of the reasons that I write. There are certainly other types of difficult circumstances that living in this world can bring our way. That is often the nature of living on this planet. Even so, watching a child digress because of a terminal disease that you have no control over is perhaps the worst thing that a parent can go through. Especially with the knowledge of what the course of that disease will bring.
I have had a couple of online friendships with people that have provided home healthcare to children with Batten disease. I always welcome it when they are allowed to share about the experience of caring for these dear ones (these kids are the most special). I was pleased when I met yet another person who cared for children with fatal childhood diseases. Her name is Linny Price and hers has become another valued friendship. She is not only a very neat person but she is also a retired nurse who cared for kids with rare and fatal diseases. Added to her experience of caring for these kids is the grief that she experienced with the loss of her husband. Everything together helps to form her perspective on things. Here is some of what she said in comments that she had made, “Being a nurse who worked with terminally ill children, I don't think there is anything worse than that. Even when my husband died prematurely, I was able to work through my grief, although it took six years. But it is different when it's your child. Conceived out of love, a creation, YOURS, an unconditional love. All you ever want for your children is the best. But when you get a diagnosis that is not possible to fix, your heart breaks. Why? Because you would do anything to save your child.” She would go on to continue those thoughts by adding this, “A mother or father would give their life to save their child, however, at this time in our lives the research is slow and that makes a parent feel so guilty that there's nothing that they can do.”
Sometimes, I look at these kids and think about how beautiful they are. My mind then wanders to the fact that they have this devastating disease and they are automatically endeared to my heart. As a result, I long to celebrate each one of them as their families share their journeys. I try to focus on the positive details of undying love and devotion that exists in each one of these kid’s stories but the facts concerning what is dealt with are often devastating. And still, it is during these times that those details are most clearly seen. To me, what is dealt with will always be above that which is of the ordinary. I have adopted a phrase as of late and have used it in my writing on occasion. It goes like this, “Batten families are made up of ordinary people that have been asked to do that which is extraordinary. In the process, they become completely special.” This is an outsider's perspective of course. The people that make up the Batten community will tell you that as parents, they are just doing what is required to care for their child, or children in some cases. While that may be true, the things that are required of the parents or caregivers are often times well above that which anyone would expect.
I have noted the things that I have observed about the Batten community on several occasions. One of the things that I have noticed is that different people have different ways of dealing with the heartache and the circumstances that they are surrounded by. It doesn’t matter what a person’s social and economic status is, the battle that is Batten disease is a traumatic experience. The big thing that I have noticed is how each parent regroups and commits to doing their very best to help their child battle the monster that is Batten disease. Each one does what they are able to do and the members of the Batten community do what they can to help one another through this difficult challenge. All have an important role to play and they do so, for the most part, behind the scenes in chat windows and over the phone. Sometimes, people have the means and the ability to do more.
Linny mentioned that more needs to be done in the area of research and several of the families have taken up the task of raising funds for this upon themselves. This, because their cause has been neglected by others. Here is what Linny said about this, “These rare diseases don't get the amount of money needed for research in order to to find a cure. I think that it's a great idea when foundations are set up to raise money that otherwise would never be gotten.” These foundations are often set up by the families that have the means and capability to do so. In the end, they are not only doing what they do for their own children, but also for others that are affected with the same disease. Foundations are a fantastic way to make a difference in the battle that is Batten disease but there are also other ways in which people have put their “boots on the ground” so to speak. This next story is about a family that took action in an effort to save their own children. A father who was used to fixing things and finding solutions would do everything in his power to help his own son. This, after he and his wife received the alarming news that their child had Batten disease, a condition that they previously did not know existed. This is a story about an upper middle class family that has been on a journey that never could have been expected. Their lives would be changed forever as a result. This, in a profound kind of way.
Planning for the Ordinary
Tracy and Jennifer VanHoutan had the desire to be just an ordinary family, raising children successfully with all of the normal milestones and events taking place. Two of their children, Noah and Laine, are now the most beautiful Batten angels that people will ever know about. Both of their lives changed the lives of their family forever. The actions that were taken as soon as Noah was diagnosed are extraordinary and Laine’s diagnosis would only increase the intensity of the search for a treatment and a cure. There was much that was accomplished as a result of the actions that were taken and those actions would helped many future warriors who battle Batten disease. I think that it is safe to say that the lives of Noah and Laine have, and will continue to, affect the lives of others in a big way. Neither will be forgotten because they would both be impossible to forget. I met Tracy and Jennifer in Nashville, Tennessee while at the Batten conference in 2018. I was immediately impressed with them upon our meeting and I felt that I was in the presence of people that are very special. The more that I have learned about them, the more I know this to be true. This, especially after receiving the details of the story that I am about to tell. I hope that I can do it justice.
Just as it is in most every case, a love story begins with two people that meet and fall in love. Make no mistake, this is a love story. Tracy VanHoutan and Jennifer Farnaus were both career driven people, and both had attended college. Tracy went to the University of Iowa and Jennifer attended Loyola University Chicago. Jennifer had traveled to Rome where she had spent a year of her life after graduation and she was then back home. It was 1996 and the Chicago Bulls were in their heyday. Michael Jordan, Scottie Pippen, Dennis Rodman. Do you remember all those guys? You should! They were dominant that year and would go on to become champions of the NBA. It was during the playoffs that Tracy and Jennifer would meet at a mutual friend’s house. Craig was Jennifer’s high school friend and Tracy’s fraternity brother from college. Tracy and Jennifer were both there to hang out and watch the game. Neither knew at that time that their lives would be spent together. They certainly didn’t know what that life together would entail but there was an attraction towards one another and it is certainly easy to see why that would be possible. The future couple started to “hang out” together that summer and would go on to have their first date in the later part of August 1996. Jennifer would tell me that they had no expectations except for finding their way in the world. Both would become gainfully employed with a successful future in mind. Tracy would gain a position as a Trader with the Chicago Board of Options Exchange and Jennifer would begin to work in residential and commercial real estate marketing. They were finding their way and that way would include each other. The young couple would date for five years, after which, they became man and wife.
Life as newlyweds continued, and both continued to build their careers. Every couple looks forward to buying their first home and this would take place for Tracy and Jennifer in 2003. They bought a house in the suburbs of Chicago and it was their very own. Things were really starting to take shape. More times than not, a big part of marriage involves having a family together. It is amazing how things change as children come along. They change our circumstances and they change who we are as people. This was about to happen for the VanHoutans in a big way. Jennifer became pregnant in 2003 and she would go on to have a normal pregnancy. As Spring of 2004 rolled around, so did the event that Tracy and Jennifer had greatly anticipated. That being the birth of their first child. They had a boy and he would be named Noah. After a moderately difficult delivery Noah was watched in the NICU for a few hours. Doctors wanted to continue to monitor Noah’s heart rate after he was delivered, and they determined that he was just fine after this short stay. Baby Noah was the most perfect little man. He had all of his fingers and toes and such a cute little nose. Jennifer would stay fixated on her baby’s little features as she could not take her eyes off of him. He was all boy but oh, so sweet. The only thing that drew her attention away from baby Noah was the time that it took to look at her husband Tracy. This, as he looked on with extreme pride over their new child. Tracy must have felt like he was on top of the world at this point. He had a beautiful wife, a house, and a career path with tons of potential. On top of it all was the fact that he and Jennifer had brought this life into the world together. He had a son.
Noah would develop normally as he grew into toddlerhood. He was healthy and he brought so much joy to everyone who was a part of his family. He could often be heard giggling as he enjoyed having childhood fun. He loved trains and spending time with dad who was always on hand for a wrestling match with his adorable little man. Noah also loved getting into mischief on occasion but the innocence that he possessed as a child could clearly be seen. There is something about the connection that little boys have with baseball and Noah was no exception. It is clear that his parents fostered a love for the sport from a very early age. The Chicago Cubs were much loved at the VanHoutan house and that love was quickly passed on to Noah. He could often be seen wearing his toddler size Cubs hat, as well as, other cubs apparel. The family dreamed that Noah would one day pitch for their beloved Cubbies as he helped them win a World Series. Life was good and the experience of having their first child would lead to a desire to increase the size of their family.
Filling Out Their Family
Tracy and Jennifer wanted another baby and they were happy to receive the news that this was going to happen. Jennifer was pregnant once again. This news came about one month after Noah’s first birthday and it would be shortly after that when they would receive some additional news. Jennifer was going to have twins! Apparently, she had told her mom when she was young that she would one day have twins. Her little person prediction had come true and the house was filled with excitement over this news. Perhaps the excitement was mixed with a little nervous anticipation over what the future would hold. It would only be months away that their house would be filled with children and their attention would be divided by three. Things were taking shape, and everything was as it should be. Once again, Jennifer’s pregnancy would go smoothly overall and she would receive plenty of help during that time. Tracy and Jennifer had been in the middle of a large remodel of their home and they were living with Jennifer’s parents as the house was being worked on. I am sure that Noah loved all of the extra attention that he had been receiving while at his grandparents’ house. Grandparents are cool and they are fun to be around when you are a little person! The time would come for the next big event to happen in the lives of the VanHoutan family. Noah was only twenty months old when his mommy gave birth to twin sisters. They would be born in January of 2006 and were named Laine and Emily. Both were beautiful and just like their big brother, they both came into this world with all of their fingers and toes. Both were covered in brand new baby skin and they were oh, so perfect. Jennifer had carried her girls for thirty-seven and a half weeks and she was overjoyed with their arrival. Mommy and her twin girls would arrive home two days after they were born and all at once, this family was a family of five people.
Just as one would expect, things would be a little bit overwhelming for Jennifer and dad too at times. They had their hands full. Literally, with little people. The attention required between Noah and the twins was divided but again, they were still living with Jennifer’s parents and that was a big help. There was a lot of joy and laughter as everyone enjoyed this experience together. Tracy, Jennifer, and their children would move back into their updated home nine weeks after the twins were born. Noah had learned to walk when he was ten months old and he was all over the place by the time his sisters were born. Not only was he getting around, but he was also getting into mischief on occasion. Noah was all boy! There was one incident that Jennifer will never forget. Here it is in her own words, “One particular moment I remember fondly was when we moved back into our home with a newly remodeled kitchen - while I was taking care of Laine & Emily in their bedroom I heard a mischievous laugh coming from the kitchen. Noah, almost two, pushed a chair up to the sink and climb up and turned on the faucet and decided to give our new kitchen a bath!” Noah, what were you thinking? Keeping up with Noah while also taking care of four-month-old twins was a challenge for sure. Jennifer said that she felt overwhelmed at times but also said that she felt blessed. Her children were healthy, and she had no reason to believe anything other than they would continue to be. Both she and Tracy were looking forward to all the life events that would take place as these three little people continued to grow and develop. Things were good at the VanHoutan house and life together was full of potential.
After about a year, and being the oldest, Noah had a head start on all things as far as his development was concerned. He would soon turn three years old and was at that time attending preschool. It was while Noah was at preschool that certain things were noticed. One thing was that he was impulsive and the other was that he had an inability to sit still. It was also noticed that Noah was slower in responding when asked a question. It seemed that he was a little slower in the development of his speech when compared to the other children. As a result of all of this, Noah would be evaluated at three and a half years of age within the public-school district. It was determined that he fit some of the criteria of a special needs child. What would be alarming to any parent was that Noah was apparently having tremors. The VanHoutans would, of course, have Noah seen by doctors which included his first neurologist. After seeing this doctor, the VanHoutans would be told that the symptoms that were being seen were normal for a boy. They were assured that Noah would grow out of them. This assumption would turn out to be false as something even more frightening would happen with little Noah in just a few short months.
It would be four months prior to Noah’s fourth Birthday that an event would take place that would shake any parent. Without warning, Noah collapsed and would stop breathing. After being evaluated by medical professionals, it was felt that Noah had probably experienced a seizure. Nobody goes into parenting expecting something like this to happen. It is a complete shock when it does and the memory of it happening never leaves you. It would not be long, just a couple of weeks, before Noah would have another seizure. It is very common for all children to receive the diagnosis of childhood epilepsy when seizures continue to happen. That is what would take place with Noah and bringing the seizures under control would become the objective. The fact that it was difficult to control Noah’s seizures with medication would lead one to think that there was more going on than simple epilepsy. Finding the right doctor who would help in finding the answer would prove to be difficult for the VanHoutans. The pure joy that had been present in the home was gradually being replaced with a mixture of love and deep concern.
Treatment with medication would be coupled with testing and an MRI of Noah’s brain would be performed about nine months after he was diagnosed with epilepsy. The results of the MRI would show that there was atrophy, or shrinkage, that had taken place in Noah’s brain. There was no cause associated with the findings and there were other signs that something very serious that was taking place. Noah was starting to digress in his ability to perform simple tasks. Things like eating with a fork and brushing his teeth were now becoming difficult. All of this together must have been difficult to be a part of. Major problems, never expected, were taking place with their precious son. More than just epilepsy. The VanHoutans needed answers and finding them started with the help of Jennifer’s friend. Her stepfather helped connect Tracy and Jennifer with the Chief of Pediatric Neurology at Duke University in North Carolina. It would be just weeks later that Jennifer and her mom Jacque would take little Noah and travel to 850 miles by car to Duke. Once there, Noah would undergo a two-week evaluation in which he many different tests. He would undergo every test that the medical team felt was associated with Noah’s symptoms. These would include a skin punch and blood tests that would be sent to two different labs. Another thing that was done for Noah was that he was started on the Ketogenic Diet for the purpose of helping to control the seizures. This diet has helped others and it would appear to help Noah initially. The fog that had surrounded him looked like it had been lifted. There was a measure of optimism as dietary change seemed to bring with it a good result. The seizures, however, would not go away. The doctors tried to take away one of Noah’s seizure medications while they were at Duke, but his seizures continued. Jennifer and Jacque returned home with Noah two weeks later and Noah was doing better but was not seizure free.
Still on the horizon was the day that Noah’s test results would come back. Once the results were received, life at the VanHoutan home would change forever. Their lives, and that of their extended family, would not be the same. Both were career-oriented people who also wanted a family. They expected to experience normal American things, being lived out in everyday American suburbia. Tracy and Jennifer would soon find themselves being a part of a community that they did not yet know existed. They had no idea how their lives would be impacted, nor could they know how their lives would impact the lives of others. It would be about a couple of weeks after the trip to Duke university, on Saint Patrick’s Day of 2009, that things would change forever. The family was sitting down to enjoy their Saint Paddy’s day meal and Jennifer had prepared a Ketogenic appropriate meal for mister Noah. That is when the phone rang. It had been about sixteen months since the time that Noah had experienced his first seizure and his family was about to learn the truth concerning his condition. The phone was picked up and Noah’s neurologist from Duke was on the other end. The results had come back and the findings were that Noah had been diagnosed with Late Infantile Neuronal Ceroid Lipofuscinosis, now more known as CLN2 Batten disease. A holiday that was meant to be enjoyed together as a family would forever become a reminder of a day that will never be forgotten. They would begin to do what most any family would in this day and age. They started to do research on the condition. Here is how Jennifer stated their respond to the news, “Over the next few hours as we researched the disease, our world quickly crumbled. It was never the same again.”
It was a fact that the VanHoutan family would never be the same again. The life that they had planned and talked about sharing together would not come as it was expected. There would be sweet times ahead for sure but they would be mixed together with heartache and grief. Tracy and Jennifer would experience things never considered and for them, not yet known about. In the midst of their own personal struggle, they would discover a purpose and a path to display the leadership qualities that they possessed. Everything that they would become as a result of the news about Noah would begin as Tracy opened his laptop to do research on his son’s diagnosis. As it is with most any set of parents that receive the news that brings devastation, Tracy and Jennifer wanted to know what the mechanisms of Batten disease were. It would all begin with a search of the internet and the result would be what anyone would expect. They searched for answers while maintaining calm for the sake Noah’s sisters but inwardly they were very alarmed. Their world was beginning to crumble as they learned that Noah’s condition was fatal. No cure or treatment was yet available.
Coming to Terms
Together, the VanHoutans would learn everything that they possibly could about the disease that their young son had been diagnosed with. The information that they would find all seemed to be unreal. How was something like this possible? Noah was, up to the time that symptoms appeared, so healthy. How could there be no cure, and why was more not being done to find a treatment and a cure? Right away, they would connect with the Batten disease Support and Research Association (BDSRA) and they would also set up their own non-profit foundation. This would take place only weeks after Noah was diagnosed. The foundation would come to be known as Noah’s Hope. The VanHoutans were fortunate to have their Batten disease education jump started by a family friend who compiled a pair of five inch binders filled with recent scientific publications on different forms of Batten disease (also known as NCLs - Neuronal ceroid lipofuscinosis).
Jennifer would tell me that her husband is a very binary person. By this, I think that she means that Tracy is methodical and a problem solver. In fact, she stated that he believes that for every problem, there is a solution. He is analytical in his approach to finding those solutions. Tracy grew up in Iowa where he often times worked on farms. There are always things on farms that are broken, and which require fixing. He was used to fixing things that are broken and he was not about to sit around and wait for others to fix the situation that surrounded his son. Both Jennifer and Tracy worked full time as Noah received his diagnosis. Jennifer said that her husband would work late into the night on his research as she managed Noah’s seizures. As I have stated before, I am always impressed with Batten families and how they regroup after being giving the news that brings complete despair. What is done for their children as they do so is extraordinary and completely special. Everyone will have a part to play in the community that they find themselves being a part of. Some have the ability and the means to do more and, in the process, they will help many. The only thing that registered with Tracy at the very beginning was how he could go about helping his son Noah. In the process, both Tracy and Jennifer would end up helping many others.
And still, it was sweet Noah that was the center of their attention. As a family, they did everything they could for Noah while also providing a stable home environment for their two daughters. Heartbroken but resolute, they pressed on. Jennifer has shared with others what the environment at home was like through what has been written for the Noah’s Hope website. Here is an excerpt from that page, “When we learned that Noah had CLN2 Batten disease, our world literally fell apart. As we frantically tried to learn as much as we could about his terrible illness, we worked hard to keep everything at home peaceful and uneventful. It was very important to us that the girls would continue their busy lives with as little interruption as possible. They were our shining lights of joy amid our new chaos, and we went to great lengths to keep up their dance classes and play dates.”
One thing that I have observed and have come to know is that there is most often a special bond that exists between twins. Brothers or sisters, one of each, it doesn’t matter. I think that the bond is maternal as they really begin the relationship in mom’s tummy. Where one twin is, you will often find the other. They play together. Grow up together and get into mischief together. The bond is one that lasts a lifetime and it begins even before birth. As Noah began to battle, the relationship between Laine and Emily would continue to grow. Jennifer referred to what she had seen between the two as a “twinship”. These two little girls were together all the time. So much so that it was difficult to keep even their names separate. Ballet class and tea parties, you name it! They did everything together and they even shared a room. But before all was said and done, Batten disease would have a tremendous impact on the relationship and circumstances surrounding these two sisters. Tracy and Jennifer still had no idea what all would take place with their family or what the future would hold. The VanHoutan just knew that they could not sit back and do nothing.
Tracy’s actions which resulted from his research were most notable. Not only had he collected the data on his son’s disease, but he acted on what he found. He spoke frequently via phone to the Executive Director of BDSRA, who was also a parent who had lost a child to Batten disease. Tracy also made calls to a researcher who was a member of his Alma Mater, the University of Iowa. It doesn’t end there. Tracy went to where the research was actually taking place. He would travel to both England and Germany to identify scientists that were working on developing therapies. This, to replace the missing enzyme needed to clean out harmful wastes in his son brain. Tracy would learn of a summit that was being held in Hamburg Germany in June 0f 2009. It was the 12th International Congress on Neuronal Ceroid Lipofuscinoses. Upon learning about this meeting, he booked a flight and traveled to be in attendance. Tracy would meet a researcher while at the summit in Germany. The story about Noah’s plight would have a profound impact on her and I am sure that his story would greatly affect her future research. Tracy would continue to travel as Jennifer’s parents helped with the children. Their family’s story would continue to spread among those who were researching treatments for their son’s disease. One point that this writer would like to make is that Tracy was not intimidated by the immensity of the challenge. He just acted on what he learned as he sought to solve the problem. More needed to be done and it was his goal to make sure that happened. There was no excuse for a lack of action. Noah had been diagnosed in March of 2009. It had been such a shock, just as it would be for any family. Jennifer stated that she honestly felt, at that time, that Noah would not succumb to the disease. She felt that science would advance enough in time for that to not happen.
The Balancing Act
As a team, Tracy and Jennifer were going to give their best in an effort to help that happen. Life became a balancing act. This between work life and Noah’s care. Keeping up on the advances of research and living family life. What about the twins and their needs? There were certainly all of the activities that go along with having twin daughters. Accomplishing everything, all at once, was a huge challenge. The following quote describes the couple’s approach to the challenges that they faced together, “We decided early on, we would create a balanced life for Emily and Laine as we knew Noah was pretty sick and at that point, no treatment in sight. Being able to keep Noah safe (he was still walking, but falling down often), was a challenge every minute of the day.” Jennifer was working at the time while a nanny helped with the children and she would often be called on to manage a fall or a seizure. As Noah’s Disease progressed, so would the challenges associated with caring for him. This did not stop them from taking action through Noah’s hope. This, both on Noah’s behalf and also in order to help others afflicted with CLN2 Batten disease. The non-profit foundation Noah’s Hope was founded in order to promote research and to help raise the money required to fund it. The number of initiatives funded, and actions taken over time would continue to grow as the VanHoutan’s own battle continued. This was a family that was working together. Not just for their own benefit but also for that of others.
Just like so many Batten children, Noah was granted a Make-A-Wish trip and he would meet his hero while he was there. Lightning McQueen was his guy and Noah was so happy to be at Disney to meet him. The family would stay at Give Kids the World Village. Jen’s parents, Mamo and Hoppa, as Noah named them before Batten disease took his ability to speak away, and her sister joined them while staying in a condo which was nearby. Jen and Tracy would also be joined by some friends for a time as well during the stay. These are memories that would never be forgotten. It needs to be noted that Noah’s sister Laine would fall in love with Cinderella and all things that are princess like on this trip. She was, herself, such a princess unaware. It would not be long after their return home that they were off again for the weekend to attend their first BDSRA family Batten conference. This would take place in St. Louis as they returned in July. Little Noah was still pretty functional during that first conference and had met at little girl who also had CLN2. She was from the great state of Texas and the two of them quickly became friends. They would play well together in kids care and this allowed Tracy and Jennifer to attend every meeting possible. This was a new experience and they would take in every bit of information that they could. BDSRA does a fantastic job with the siblings of Batten kids and they would provide care for Laine and Emily in the “Teddy Bear” club. This would allow the VanHoutans even more time to network with other families.
Tracy and Jennifer would need the relationships that they would begin to develop with the other families as there was much more to follow. Their hearts would soon be broken for a second time. Once again, their world would be turned upside down. They had quickly learned at the beginning that the disease was genetic and therefore, it was possible for one or both of Noah’s siblings to also have the disease. Laine and Emily, who were three years old at the time of Noah’s diagnosis, were watched closely for a while. Tracy felt strongly that the twins needed to be tested for Batten disease and so they were. The results of the testing provided a date that will never be forgotten. It would take weeks to get a conclusive result, but it was on August the 17th of 2009 that the family received the news. Laine also had the disease. Her twin, however, did not. Emily did not have CLN2 Batten. This happened exactly five months after Noah was diagnosed. Just like her big brother Noah, Laine had been normal and healthy in her early childhood development. She would reach all of her early milestones and her life seemed to be full of future potential. As had been the case with little Noah, the VanHoutans had considered all of the future events that should have taken place. Personal growth for both of their twin girls. Soccer and softball games, dance class and school clubs. Graduations at the various levels of education. College and weddings for each of them. It, however, was not be because Batten disease was fatal. How distressing this would be for any parent. The life that you had dreamed of having with your children was not to be. Jennifer described what life had been like for Laine and her twin sisters prior to Laine’s diagnosis. Again, this quote is taken from the Noah’s Hope website, “Our house rang with her giggles as she galloped down the hallway with her twin sister Emily. They were always a pair, whether coloring pictures for Mommy, snuggling during naps, or showing off their newest princess dresses.” All of a sudden, that which had been experienced was now in jeopardy of not continuing.
Little Laine was showing no symptoms whatsoever at the time that she and her sister Emily had been tested. The VanHoutans had hoped and prayed that the ugly disease that had invaded their home had not affected either one of their daughters. Their hopes were dashed with Laine’s diagnosis. Laine would begin having seizures just weeks after they received the word. She was then, three years and eight months old. Tracy and Jennifer’s hearts must have shattered with that first seizure. They had seen their son Noah digress and they knew what was coming with Laine. What about the twinship? What about Lainey, that adorable little half of this precious sisterhood that they had enjoyed watching? It is so difficult to make abrupt life changes when things like this take place. It is a cruel thing at times, but life doesn’t stop for Batten disease. It just heaps itself on top of existing anxiety. Jennifer described the effect that this news had on her after it was received, “This was devastating. I had a hard time functioning but had to because I had three children who needed me daily and I had a job I needed to do (with many deadlines since I worked in advertising).” Within the span of just a few months, the VanHoutan’s life had been turned upside down and it was never to be the same. Tracy responded by digging deeper into his research. Jennifer said that he was trying to identify as many researchers as possible. Somebody had to be on the cusp of making a breakthrough in science that would help his children! As the summer of 2009 went on, they continued to learn more about the disease and things became much harder with Laine’s diagnosis. Simply put, Jennifer explained it like this, “I was at a loss and had a hard time.” Just like many of the resilient little men that would come before and after Noah, he was “blissfully unaware” of what was going on around him. Jennifer stated in Noah’s Hope that it was apparent, Noah was frustrated at times by his loss of control. This, even though he was never really conscious of his decline.
Jennifer shared in Noah’s Hope the fact that unlike Noah, Laine would be completely aware of what was taking place in her body. This because she knew what had taken place with Noah. She recalled that Laine had crawled into their bed and with innocent eyes looking at her parents, said the following, “I can’t see! I can’t see! Like Noah?” On the website, the question is then asks, “What do you say at a moment like this? What do you say when your little girl can see her future in her sick brother’s deteriorating body, and you can’t do anything to stop it?” That is what would take place, and this is what was faced by this family. What about Emily? She was also aware of what was taking place with her twin sister. It was Emily that had found Laine when she was having her first seizure. This happened while they were napping together one afternoon. How scary! Can any of us understand how she must have felt at the time? This, with Emily being so close to her twin sister. So many questions came to Jennifer’s mind. How could she help her children? How could they survive all of this as a family? The thing is that this same type of thing has been experienced by other families. This, being those who have more than one child that has been diagnosed with Batten disease. Even with one, it is at times, too much to bear. For Noah and now Laine, there was no treatment yet available. How helpless this would make any parent feel! Jennifer would tell me a couple of things that for the rest of us, would seem like an understatement. They are included here in what she had to say, “It was a tough year - but I chose to keep moving forward and do the best we could with where we were. We had a wonderful school district who supported us and our friends, family and parents supported us as well. It was busy in our home for years.”
Jennifer was already aware of what sweet Laine was facing as she was diagnosed in August of 2009. As a result, she chose to apply for a Make-A-Wish trip for Laine before she regressed too far to enjoy the trip. Of course, she was excepted. Jennifer had wanted Laine to enjoy a visit with Cinderella. Remember, she loved princesses and Jennifer’s little princess would soon meet another! This time, things were kept simple with the help of Jennifer’s parents. They were good enough to watch Noah while she and Tracy went on the trip to Disney with Laine and Emily. Jennifer would be more than comfortable with this in part because her mom was a very experienced registered nurse. Doing things this way would allow them to focus more attention on Laine. Lainey would spend time with Cinderella and Prince Charming while at Disney and you just know that it was a very special time for everyone. Memories that are impossible to forget are made on these Make-A-Wish trips. This is, of course, in addition to joy that it brings to a most deserving child.
Noah would be enrolled in a program for kids with special needs in the fall. Laine and Emily would attend preschool together as Laine was still able to walk. This, however, would be the only year that they would do so. The VanHoutans would be advised that Laine receive full time support while continuing in preschool. When four-year-old preschool began, Emily on the other hand, would be enrolled in a Montessori school as she achieved completion of the program. It was a sad reality that Batten disease was robbing Laine of the potential that she shared with Emily. The twinship would begin to be deeply affected as the two girls were separated for the first time. As one would expect, time would continue on and so would the progression of Batten disease in Noah and also Laine. As Jennifer shared the details of their journey with me, she shared something that was difficult for her to write. It had to do with her twin daughters, and this is what she said in written word, “The hardest part of Batten is that Emily and Laine are twins. Emily had to watch her once playful mate lose her abilities. Emily was such a good toddler and easy-going-spirit for so much of Noah's diagnosis journey. However, she had a difficult time at age five because that is when she began to notice her twin sister not keeping up with her in so many ways.” Once walking and talking together constantly, Laine was changing, and Emily just couldn’t understand. She was only five years old. Jennifer continued on and briefly described the struggle with Laine’s twin sister and life in general, “Emily acted out and that was a struggle because I knew why and couldn't make it better. I struggled to get her to Montessori almost daily and was stressed to race home to be on a conference call or just even get my work done while the kids were at school.”
Noah was a typical little boy. This, up to the time, and even after he started having seizures. He was fun loving, and he loved his mom and dad. He ran and he played. His favorite things were those that were used in transportation. Trains, cars, trucks, and especially, his toy dump truck. He loved baseball and the Chicago Cubs were his team. He loved playing the sport in his own little way and he loved it when people took the time to play it with him. He came from good stock, as they like to say. Both parents being college educated and intelligent. Noah showed everyone, early on, that he had great potential and people felt that he had a very bright future. Sister Laine was cut from the same mold when it came to being intelligent. She would grow to love everything princess like and she was, herself, a darling little princess. She so impressed the people who knew her best. The most impressive thing that her mom had observed is Laine teaching herself to walk. Jennifer said that her daughter never cruised before walking. This is what she said concerning Laine as she first took flight, “She saw Emily walking one day and was determined to walk. So, Laine crawled into the middle of the room and kept trying to stand up and launch herself into a walk. She did it for about an hour and that is all it took! She was walking from then on.” Jennifer also talked about Laine’s ability to tell a story using the pictures that she viewed while looking at books. Hoppa taught her this! Jennifer will always remember the day that she found Laine in a ballet first position. She learned this from a book about ballet. She had interpreted the book and she was only two years old at the time! She was yet another, brilliant little mind that was soaking up information. People could see the potential that was there from a very early age.
The Juggling Act
Things can change in such a very short time. Especially when we are talking about the journey that is Batten disease. In Noah’s Hope, Jennifer referred to life in their home as being a “juggling act”. It is a similar experience for any parent or caregiver who devotes their time to one of these little warriors. What about when there is more than one Batten child to care for? The giving of medications that are constantly changing as the disease progresses. Emergency room visits and sleepless nights. In home procedures to keep oxygen levels up or to just help your child to be able to breath. By age six, Noah was confined to a wheelchair and was starting to be tube fed. The cruel reality is that his sister Laine would one day follow this pattern because the treatment that the VanHoutans sought after would not yet be available. These kids are the most resilient as they continue to find joy in living, even as their health is declining. One thing that I have learned is that it is completely devastating to a parent when they no longer see their child smiling. They just are no longer able to do so. Jennifer said that it was in 2011 that it seemed that Noah was able to communicate “Yes” and “No” by blinking his eyes. That, however, would not last long as his body continue to decline. All of this was just devastating to see happening. It would make any parent feel helpless. Handsome Noah would battle so hard even as his spirit “continued to inspire” those who loved him. This, even as the disease progressed in his body. To watch the ruthless nature of Batten disease and the way that it affected Noah’s life was so challenging. Yet the VanHoutans would remain determined in their desire to make a difference while also helping their son through his difficult journey.
And then there were these adorable twin sisters, Laine and Emily. Lainey would soon be able to walk only by the aid of a walker and It was becoming a struggle to feed her. The seizures would become hard to control and this was difficult to watch. Each seizure would be another reminder concerning the severity of her condition. Laine would remain aware of her own decline for some time after her diagnosis and that would break the hearts of those who loved her. You could only imagine the feelings of frustration as her decline continued. Noah’s Hope describes a time that will never be forgotten. This, as the impact of Batten disease would begin to affect the relationship between these two sisters. From Noah’s Hope, “It was a terrible day for Laine when she realized that she could no longer run with Emily. They did manage to walk down the aisle at a friend’s wedding in June of 2011—our beautiful twin flower girls. Sadly, that was one of the last walks the girls ever took together.” I don’t believe that twin sisters could ever be separated but the relationship between Laine and Emily would become more distant as the disease progressed in Laine. That part especially, saddens me. The amazing thing, although not surprising, is that Laine’s relationship with Noah deepened as her health continued to decline. Laine would “light up” around Noah and her smile brought a smile to other people’s faces as they looked on. Daily, there were challenges and reasons to be heartbroken but there were also sweet times that would bring an abundance of things to be remembered. Jennifer talked about the mixture of feelings as she shared the following from the website, “We cherished each smile. And while we mourned for the future that could have been, we embraced each day that we had, cherishing our little blue-eyed girl who used to dance.”
The VanHoutans are people of action. It had to be discouraging at times to watch as two of their three children’s health declined. And yet, they involved themselves in the lives of others and the cause of making a difference in the lives of those people. They were as active in the Batten community as any and would seek to make a difference on the world level. Because of this, Tracy would be selected to serve on the board for BDSRA (Batten Disease Support and Research Association). He would serve there from 2010 to 2017. Alongside any good man is a good woman and that person would be Jennifer. Balancing work, family, and the care of their little warriors was a challenge but that would not get in the way of their work in the Batten community (This writer endeavored to write about the VanHoutans after hearing their names mentioned by several different people). As has been mentioned previously, Tracy was always actively involved in knowing about research that has taken place for the treatment and the cure of CLN2 Batten disease. He would be keenly interested in things that could potentially help his children but also things that could help others. Through their own plight, the VanHoutans had discovered a purpose that they never knew existed as they were involved in the battle that is Batten disease. Tracy and Jennifer were a small part of the rare disease community, but they were trying to make a big difference. I think that they were well equipped for this and in fact, the VanHoutans would make a big difference. As a couple, they would be aware of potential treatments for Batten disease and would also be in discussion with those that were involved in bringing them about. One of the potential therapies was something known as Enzyme Replacement Therapy. This was something that could have helped their children had it been developed and approved sooner. The development of this technology had gained the interest of a biotech firm that had expertise in enzyme-based therapies. The company had invested significant resources to develop this treatment but was facing regulatory issues and delays. In fact, the delays grew to the point that the clinical trial opened and enrolled patients in Europe prior to the clinical trial opening in the United States.
Again, Tracy would not be intimidated by the immensity of the task. He committed to working to help speed up the process. The list of initiatives for Noah’s Hope states that Tracy would appear before a committee of members for the Food and Drug Administration in 2011. In that appearance, he discussed the challenges that were faced in the rare disease community as a result of the lack of speed at which new treatments were approved. At that meeting, Tracy would go on to submit a list of proposed changes to members of the FDA. It would not stop there. Over the course of time, Tracy would make several trips to Washington, DC. and worked with other advocates to recruit members of the House and Senate to be a part of the Rare Disease Congressional Caucus. This is not minor league stuff! Noah’s Hope would become a key supporter of legislation to help give rare disease patients better access to new therapies through accelerated approval of such treatments.
Making a Difference
In September of 2013, Tracy was invited to give testimony before the Rare Disease Congressional Caucus. It was during that appearance that Tracy spoke about the disease that affected his children and his testimony was very moving to say the least. He would then go on to talk about the formation of the non-profit foundation known as Noah’s Hope. He explained how the foundation had co-funded research at Rutgers University. The goal had been to develop enzyme replacement therapy for CLN2 Batten disease. Tracy then spoke about the clinical trial opening up enrollment of patients in Europe before the clinical trial was approved to move forward in the United States. Tracy emphasized the real life consequences of these delays and that regulatory delays were slowing access for patients. This type of thing was not new to those seeking to make a difference in the lives of those who had a rare disease.
Tracy’s testimony, which was based on knowledge of the facts, would be an eye opener for those who were in attendance. Therapies that were developed by American companies and funded by U.S. dollars were being exported to be tested in trials overseas because of regulatory delays. This type of thing was affecting the VanHoutan family, but it was also affecting many others. Changes needed to be made and again, Tracy would offer his opinion as to what those changes should be. He and Jennifer, through Noah’s Hope, would make a difference and as a result, they would become recognized as leaders within the rare disease community at large. It would not be practical to mention everything that was done through Noah’s Hope in helping to bring Enzyme Replacement therapy to affected children in the United States. It just needs to be known that the effort put forth by the VanHoutans is recognized by BDSRA, the FDA, BioMarin (the biotech firm), and also different rare disease advocacy groups. The VanHoutans made a difference that was impactful. That is what happens when impassioned people who are qualified and equipped take action. Tracy and Jennifer were maybe a little more than ordinary at the beginning, but they would become recognized by most as taking action that would be considered extraordinary. In the beginning and throughout, the goal would be to help their own children along with the others facing Batten disease. As time moved on, it would become more apparent that time was not in Noah and Laine’s favor. However, Noah and Lainey’s life would not be lived in vain. Not only have both of their lives impacted the members of their family but, through their parent’s actions, their lives have impacted countless others. Noah and Laine are beautiful for all of eternity.
What was dreamed of for baby Noah as Tracy and Jennifer began their family would not come to pass. Unaware as he may have been, Noah would build a legacy that will be felt for a lifetime. This quote from Noah’s Hope describes perfectly the days that made up the majority of Noah’s life. It would be wrong for me to use it for reference only. Here is what is written in full, “The days are long, but the years are short. Never has this seemed more true than for our son Noah. While we focused on loving and caring for our children, we spent most of Noah’s short life researching, fundraising, collaborating, and searching for a cure. And even as we faced the harsh reality that a cure would not come soon enough for Noah, we plunged ahead with the many changes that life demanded.” Noah gained his wings in March of 2016. He was just shy of his twelfth Birthday and it had been seven years since he had been diagnosed. The first FDA approved therapy for any form of Batten disease was approved in the United States on April the 27th of 2017. It’s my feeling that its approval will always be a part of Noah’s legacy. This, Because of the action taken through Noah’s Hope. Just like a lot of little boys from the greater Chicago area, Noah loved baseball and his Cubbies were the bestest. Noah was loved by many during his short time on this planet. Noah’s life would provide many precious memories that are full of sweet details and this provided just a few of them. One detail that would be considered sweet to any Cubs fan would be that which is stated in a fact that Jennifer shared with me “We often tossed the ball with him (Noah) in our yard. We dreamed he would be a southpaw for the Chicago Cubs. The year Noah passed; the Cubs won the World Series!!! It had been 108 years without them even being in the WS! I think that there were many angels in the outfield, including Noah.” Noah’s life will always have been of the greatest importance.
Laine, or Lainey Lou, as she was called affectionately, was an absolute earth angel and also a warrior of a princess. Just like her big brother Noah, she would battle Batten disease as she gave it everything that she had. She was so loved by everyone that knew her and she was beautiful as could be. Her brother had passed into eternity prior to the approval of enzyme replacement therapy in the United States. Laine would join her brother after the approval had come but she had digressed to the point that she would no longer qualify for the trial. Lainey gained her wings in March of 2018. She had just celebrated her twelfth birthday. Just like her big brother, she had been surrounded by her family and friends who adored her. She was free and finally at peace. Also, like Noah, her battle had not been fought in vain. This because both of these children had impacted the mission of Noah’s Hope in a profound way. Not only that but both of them were so loved and still are. Their lives both provided memories that are full of sweet details that existed amid the heartbrokenness. The lives of kids that battle Batten disease are priceless beyond what words can tell. I’ve said it before that these kid’s affect people like known other. Even though their lives are cut short, they mold people into something that they may have otherwise never been had they not come along. Tell me that this isn’t true! One of the cute things about Noah is that he was responsible for giving special names to each of his grandparents.
An Extraordinary Family
Of course, there were Jennifer’s parents, who I have already mentioned. Noah had named them Mamo and Hoppa and they were all very close. Not only close in proximity but also with the bond that they shared. I want to make mention of the fact that Noah had given special names to his other grandparents. Madilyn is Tracy’s mom, but is known really as Mandy. However, to Noah, she was not Mandy. Noah had given her the named Beeba. Beeba lives 300 miles away from the VanHoutans and resides in the state of Iowa. The family would travel to see Grandma Mandy during Memorial Day weekend and over Thanksgiving each year until the demands of Batten disease got in the way. That would not stop Beeba from seeing her grandkids as she then began to travel in the other direction a few times each year. She would stay involved in the lives of Noah and Laine as much as possible, even attending the families first few Batten conferences together. In doing so, she would build relationships with another very special group of people. Tracy’s dad and step-mom who were known as “Grandpa Jerry and Grandma Susan” to Noah and Laine live in Michigan. They would visit the VanHoutans a few times a year. For many years all five grandparents would travel to attend the Batten conference. Just like Mamo and Beeba, Grandma Susan dearly loves her two Batten angels and their lives have all been deeply affected by their little journeys. Speaking of the way that the lives of Noah and Laine have affected the people in their family, what about their two sisters, Emily and Colette? Did I forget to mention Colette? No, I saved that opportunity for right now but let's talk about Emily first.
Jennifer would state that Emily has seen more in her thirteen years of life than most adults. That is, in fact, the truth and you just know that Emily’s experience with her siblings would bring with it a level of maturity and insight not possessed by most people her age. I get the feeling from talking to Jennifer that Emily guards her emotions and her conversation concerning her experience with Noah and Laine. She is, however, a very talented young lady who expresses herself in her writing and with writing songs. Her singing voice is very pretty, and her talent extends to her ability to sing songs well. Sisters stay sisters for life and there are none closer than twin sisters. They start out together in the womb and they share all the different stages of growth. They are connected in a way that can only be experience by twins. I believe that Emily will take Laine, and the experience of having her as a sister, with her for the rest of her days. Laine will always be a part of who Emily is as a person and others will benefit as a result. Emily’s connection with Noah and Laine extends to other siblings within the Batten community. The best example is a girl named Sophia who had met Laine and Emily very early on at a Batten conference. She was born just one day after the twins and has developed a deep friendship over the years with Emily. These two young ladies understand each other’s feelings like none other can. The Batten community is amazing and very supportive of one another. Emily and Sophia are just another example of that.
Emily is a blessing to her parents and so is Colette. Like her sister Emily, Colette does not have Batten disease. She was only fourteen months old when her big brother would join his angel counterparts. Her memory of Laine would be a little bit greater because she was three years old when Lainey gained her wings. Even with her being at such a young age, Colette knew how to assist in the care of Noah and Laine. At the very least, she gave it her best in her own sweet little way. Jennifer stated the following concerning the effect that the entire experience will have on Colette, “I believe this is imprinted on her soul and she will grow up with a caring nature, even though she may not remember Noah and Laine physically.” She will always be aware of her big brother and Emily’s twin as there are photos of them all over the house. There is no doubt that being a part of a family with two Batten angels will have a great effect on Colette. I wonder if her life helps to fill a void left by the departure of her siblings? Perhaps that is not possible. Noah and Laine, however, are still present, even if now in spirit and in the hearts of those who love them!
Things aren’t as they would have been had Batten disease not invaded the home of the VanHoutans. Things are different but actions have been taken for the good of others. Tracy and Jennifer have high standards. This along with their training and education would have brought them continued success, both in their careers and in family life. The Batten experience has added some things that they never would have expected. Certainly, they would have rather had Noah and Laine healthy and whole but they have taken the most difficult of circumstances and have been motivated to influence the lives of others. They are both people that have made a difference in the battle against Batten disease and their involvement still continues through Noah’s Hope. They now have a big extended family in the Batten community and in this, they have received comfort. Instead of friendships, they have what Jennifer likes to refer to as “familyships”. They receive support from people around the world as they return that support in kind. Noah’s Hope has continued to support research over the years through a number of initiatives that have aided in that support through funding. Both Tracy and Jennifer continue to be a voice for those who want to bring about change. They are tremendous advocates that do things behind the scenes for those associated with this cause. Raising funds and supporting the research community is their emphasis along with the support that they offer to those who make up the Batten community.
One of these “familyships” is with the Kennicott family who also live in Illinois. Their daughter, Bridget, was about 6 months younger than Noah and a year older than Laine. Bridget was diagnosed with CLN2 Batten disease in 2009 too – and so these two families quickly found each other and shared ideas and resources. The Kennicotts told the VanHoutans about a pediatric palliative/hospice group. This was game-changing for the VanHoutans in their care for Noah & Laine. Because the Kennicotts set up “Hope 4 Bridget” in 2009, and their mission of research and education was the same as “Noah’s Hope”, the VanHoutans and Kennicotts created a joint 501©(3) a few years into their Batten journey and created “Noah’s Hope-Hope 4 Bridget”. Even with three angels, these families remain close. Another familyships that was developed with the VanHoutans happened between them and the Diaz family. Alex and Barbara Diaz were a young couple who desired to have a family together. Barbara had brought to the marriage a beautiful daughter but she and Alex had a desire to increase the size of their family. This would be accomplished through the lives of the new additions, Mia and Kaleb. Both of these children would be beautiful just as their big sister Jaylen was. This being true, each of these children would bring with them a real challenge for Alex and Barbara. Both Mia and Kaleb would one day be diagnosed with CLN2 Batten disease. This, just as Noah and Laine had been at an earlier date. The difference was that both Mia and Kaleb would be able to become recipients of enzyme replacement therapy. You see, the actions taken by the VanHoutans would, in large part, help the Diaz family in a big way. Mia and Kaleb benefited greatly because of this. It was at the time that I did the story of the Diaz family that Barbara Diaz had made mention of the VanHoutans. The story was titled “Warriors Unaware” and it has become the standard for all other stories that have come after it. In that story, Barbara would talk about the impact that the VanHoutans would have on them as a family.
Here is what was said by Barbara in Warriors Unaware, “Just days after receiving the Batten diagnosis, through a web of other special needs family Facebook groups, I found a family who also had two kiddos with Batten. I was able to get on the phone with the VanHoutans and talk to them for a while. They had so much helpful information about therapies, vitamins and supplements but most importantly they told me about a clinical trial. There were two at the time, one was a very invasive gene transfer in New York City and the other was an enzyme replacement therapy overseas. (please note, current gene therapies today have a different delivery method). At the time, New York’s gene replacement therapy was the only U.S. clinical trial available, the clinical trial for enzyme replacement therapy had just begun in Germany. On this call, the VanHoutans told me that they would take the enzyme replacement route if they still could.” Barbara would go on to say the following, “My mind was all over the place while still trying to process everything and grieve but what they told me, stuck with me and I immediately sent my first email to Biomarin.”
The VanHoutans had brought a great deal of comfort to Barbara as they talked with her on that first phone call. They had experience and knowledge that was so beneficial at that time. They knew what she was feeling. Tracy and Jennifer were the people that Barbara needed on the other end of the phone and that experience will never be forgotten by her. I am certain that this experience has been shared by many others who would make contact with the VanHoutans at the beginning of the Batten journey. It would be about seven months later that the VanHoutans would vacation in Florida, just a couple of hours away from where the Diaz family lived. Alex, Barbara, and family would make the trip to meet this amazing couple and it would be an experience that they would never forget. Just as they had on the phone, the VanHoutans would give great comfort to the Diaz family because of the shared experience as a Batten family. This was something that Alex and Barbara needed greatly at that time. Here is some of what Barbara had to say about that meeting with the VanHoutans and it closes with what Tracy and Jennifer mean to the Diaz family, “They were the first Batten family we met and just like having them on the phone, it was just as comforting. Noah stayed back home for this trip but we were able to meet Emily and Laine. We had one of the most important conversations we’ve ever had over dinner and swam until the sun went down. The VanHoutans are so dear and special to our family. We are so grateful for them and their hard work. Without them I don't think we would be where we are now. We love the VanHoutans.” I could go on and find more examples concerning the contributions of the VanHoutan family, however, I think that I have made my point by now. These are special people. The lives of Noah and Laine have impacted the lives of many others through the actions taken by their parents. Not only this but Noah and Laine will be beautiful for all of eternity. They will live on through the legacy that has been built and will continue to be present in spirit.
I had been keeping it in mind to find a title for this story throughout the time I was writing it, however, it had remained a bit of a struggle. Jennifer would wind up helping with this and as usual, her help was just what I needed. Do you know what a Juxtaposition is? I had an idea but I looked it up to make sure that I knew for certain. Here is how the word is defined in Wikipedia,
“Juxtaposition is an act or instance of placing two elements close together or side by side. This is often done in order to compare/contrast the two, to show similarities or differences, etc.”
A juxtaposition is what I had in mind when I had once used the term “A Beautiful Tragedy” in the introduction to another story. I was trying to share some observations of mine. This, by stating that the journey that is Batten disease is a tragic but also that within it are details that are beautiful. It is tragic when any child is taken from their parents because of a disease like Batten. Make no mistake, it truly is awful. It is also true though, many of the details that make up the stories of these young people’s lives are beautiful. Tell me that this is not true! Jennifer had shared with me something that was said by Tracy concerning young Noah’s funeral.
Tracy had told Jennifer that the event was “awfully beautiful”. I believe that the implication was that it was awful to have to say goodbye to Noah, but the way that his funeral was done was beautiful. It is awful in so many ways to take the journey that is Batten disease. Along the way, so many things that are beautiful in regards to these two children were seen. Many beautiful things have come out of something that is awful. So many of the memories that I have been allowed to recount are beautiful. They stand side by side with the awfulness that is this disease. The journey that was taken by Noah and Laine was awful to observe. Standing out among that awfulness are the sweet details that make up both of their lives. That is where the title of this story comes from and it was given to me by someone who speaks with authority. Noah and Lainey’s lives will always be beautiful. Awfully beautiful!
Blogger and Advocate
Much of the material that was brought together for this article exists on the Noah's Hope website. Please feel free to take a look:
I would also love for you to watch this video and others that exist on the Tracy VanHoutan YouTube channel:
“To this day I remember the nurse placing this warm body onto my chest. I looked into his eyes and instantly felt an incredible bond. As quickly as this happened however our little boy who we named Ollie, our Olliebobs was taken off of me. I was not well and was rushed into theatre. A few hours later, and thankfully, I found myself holding this precious baby in my arms again. This time I had two more bundles of joy jumping on my bed desperate to meet the new edition. In that moment I didn't feel like life could get any better.”
Batten Mum and Advocate
The phrase “A Beautiful Tragedy” came to me one day. I did not know at the time if I had heard it before so I did a search on the internet. As it turns out it has been used for a name of an album by a heavy metal rock band. It was also used as a title to a movie about a young ballet dancer. Who knows where else it may have been used. On this particular day I had thought of it in the context of Batten Disease. There is nothing beautiful about a tragic occurrence! Tragedy leaves people feeling hopeless and in shock over what has transpired. Questions arise as to why the events have taken place and why it involved a particular individual or group. It leaves some feeling philosophical about life and some may have questions that are spiritual in nature. I was personally thinking in terms of tragic love stories, like Romeo and Juliet. Concerning love, it is probably never displayed more boldly than it is in times of tragedy. Think about it!
The emotions that pour out of these events are just so powerful. Are they not? Something like Batten Disease is so very ugly. Yes, it involves the most beautiful of persons and to me, their stories are the most beautiful. The course of the disease, however, is not so pretty. Even so, the bond that develops between the warrior and their caregiver is like none other. It produces the most beautiful details of pure love and devotion. Extraordinary devotion. Going through such a thing can make or break a person. Adverse circumstances and events often change people and shape their character. Sometimes for the better and sometimes not. Sometimes the changes in one person can affect another. In fact, some will take the adverse circumstances that are faced and will use the experience to help other people in a similar situation. Think about people that have gone into battle and who have survived. To them, the trials of everyday life are nothing to sweat over. This because their character was formed over adversity and they have learned to not sweat the “small stuff”.
I hate Batten Disease because I know that it produces tragic results that reside with the families that have lost that which is the most precious to them. The details of the journey can be extremely moving. This, because those details express the outpouring of love towards these young warriors in an extraordinary way. The details also express the love and dependence of the young warrior upon their caregiver. The bond is absolutely like none other. It is the most heart wrenching experience when it is necessary to say goodbye and only the love that was expressed through action remains along with a void that can never be filled. Only the sweet memories of the experience can carry a person through such a thing. That and the promise that is often made to carry on as best as one can. These kids change people and most often it is for the good of others. Yes, it is tragic but many of the details are beautiful.
It is a tragic thing whenever a child is diagnosed with a fatal disease. It is always a positive though, when treatment and progress towards a cure comes about. It is also a positive when you see people getting involved and taking action that not only benefit their own family, but also helps others that are involved in the same battle. Such would be the case when it comes to the couple that is Mike Carroll and his wife Lucy Faith. Anybody that follows children with Batten Disease knows them as Ollie and Amelia’s parents. Ollie and Amelia have two older brothers, Danny and Micky. Neither have Batten Disease but both Ollie and Amelia were diagnosed with the CLN2 variant of Battens. They are two of the most adorable little Batten warriors that you will find. Ollie’s Army is a well known Facebook page and there is also a website with the same name. I remember the type of reaction that I had the first time that I viewed the page. This, although I can’t remember what my first thought was. I know that it was something like, “Oh wow, what an attractive family.”
The fact that they are from the UK had me drawing a comparison between Mike and Lucy and the couples from the Royal Monarchy. At the time, my feelings were that as far as appearance is concerned, those people had nothing on this attractive young couple. I approached Lucy initially about doing a short blog about her family at the beginning of my time as a writer/blogger. I later decided that this family’s story needed to be told more fully and so I approached Lucy once again. One thing that I noticed while gathering information about her family is that Lucy herself is very well written. She didn’t require my help in telling her own story. It is for this, and other reasons, that I so appreciated her allowing me to place her family’s story in this blog. From the very beginning, Mike and Lucy have sought to be leaders in spreading awareness as they battle Batten Disease. Like the other families that have been forced to take up this battle, they find themselves in the midst of adverse circumstances. I know that there has to be many difficult days but also ones that provide so many priceless memories. After all, they are parents to both a prince and a princess. For that reason alone, they will be forever royal to me. Mike and Lucy's story would be so beautiful, with or without Batten Disease being part of it. Like with so many of these stories, it all begins with two people that fall in love and this story is no exception to that.
Their Story Begins
Mike Carroll and Lucy Faith met one another as teenagers. Lucy was sixteen and Mike was seventeen. They were both working at a leisure center as lifeguards in Lucy’s hometown of Poyntown. The town of Poyntown resides in Cheshire, England. Mike lived just up the road in a town named Bollington. Although so close to one another in the places they lived, it was not until this time that they would meet. Lucy thought that it might sound a little cheesy to say so, but for her it was love at first sight when it came to Mike. Isn’t that often the way it happens? In addition to Mike’s good looks, Lucy found him to be incredibly funny. Lucy would tell me that she felt at the time that Mike wouldn’t look twice at her. You know what? I bet it didn’t take Mike more than one look to notice Lucy. The attraction was mutual and their future together would begin then and there. One of the other things that attracted Lucy to Mike was that he had a driver’s license and she was still too young to have one of her own. This means that Mike was not only good looking but he was useful! They would go on their first date with a group of their peers and from that time on they were inseparable. From then on, there would be a lot more dates and many late night conversations. There is no doubt that they discussed a future together and all that they would want in life. Things like career goals, marriage, and having a family.
You just know that with both of them being lifeguards, they had to be somewhat athletic. That would be an understatement in Mike’s case as he was a professional footballer prior to meeting Lucy. What do I mean by that? Do I mean like with pads and a helmet? No, you silly Americans. In this country we have incorrectly labeled it soccer, but in the rest of the world the sport is known as Football. Go figure! You do use your feet to kick the ball. In various places throughout the world, Major league Football is associated with clubs that produce future players through a youth system. Kids who show promise are promoted through the ranks until they reach the top. Youths are actually signed to sports contracts. This just amazes me! As an example, Mike had been playing for a club in Everton at age 11 after which he was signed to a two year contract by a club named Oldham Athletic. Mike would be hampered by injury but he continued to pursue his dream of playing at the top level of his sport. It was not only a dream but also a very possible reality as he was just that good. In fact, At one point Mike met a scout that was sent to watch him. The scout was sent directly by the manager of the Manchester United which is part of the Premier Football League. He was just that good and it doesn’t get any better. Unfortunately, he continued to have problems with injuries. Although he would sign for another club after recovering, he would have to give up the sport as a professional. Football was Mike’s life and a long career in it was his dream, but it was not to be. He would, however, press on with life and this is about the time that Lucy would enter it. Mike continued to play football. First semi-professionally and locally after meeting Lucy.
Together, Mike and Lucy would start their family and an entire life together. Lucy had been studying health and social care alongside working a part time job at the time that the two of them had met, She would later receive her degree. Mike would go on to receive training in school to become a bricklayer. Now, we are not talking about brick fences and retaining walls in your front yard, although it could include that. Construction in the UK with brick is obviously very popular in residential and commercial construction. Mike had a desire to, one day, have his own company as a contractor and bricklaying seemed like a good fit. Is that a pun? I am not sure. Anyways, as they wanted a family together, perhaps his children could be part of the business if they so desired. Mike would set up his business later, in 2014. First thing first though. It is a perfectly good and normal thing for a young couple to want to raise a family. Mike and Lucy would be no exception to that. In fact, they would want a fairly large family as they both loved kids. One of the things that attracted Mike to Lucy was her attitude towards caring for others. At the time that they had first met, Mike had a nephew who was two years old. He observed that Lucy took great care with the little guy and that impressed him. It was obvious that she would be a fantastic mum to his children and we all now know that to be true! We often times do not think about the possible challenges that may come along when the kiddos start to bake in the oven. You know what I mean? There can be complications then and, of course, during their birth. Lucy would face her fair share of difficulties to say the least. She and Mike would face the difficulties together and the whole thing would begin four years after they first met.
Building Their Little Team
It was then that Lucy found herself pregnant with their first child. She did not get off to a very good start as she found herself to be extremely sick. This would be a sign of things to come. Difficulties in her pregnancies. At the time, she was working full-time as a nurse in a baby nursery and she was working ten hours plus per day on her feet. Mike was also working full-time as a builder and they did not yet have a home of their own together. They needed to move quickly. Her sickness would die down and her pregnancy would begin to go smoothly. That is until the 34th week. Lucy started feeling very tired and the doctor signed her off from work so that she could rest. A day after finishing work, she went into premature labor. Their baby boy had decided that he couldn’t wait any longer and he needed to make his exit six weeks early. Lucy told me that as a mother to be for the first time, she was absolutely terrified. This thinking that their baby was going to die. That feeling was probably aided by the fact that the labor room was packed full of medical professionals. The outcome, however, would be challenging but overall positive!
Their little man, which they named Danny (after the song Danny Boy) was born March the 13th of 2007. He weighed 5 pounds and 12 ounces. He was kind of a little guy but that was to be expected with his early entrance into family life. They were lovingly referring to him as their “little bag of bones Danny”. Obviously he was very adorable. So perfect and complete. He had all his fingers and toes plus, he was covered in brand new baby skin. Lucy had her first child and Mike had a son! Football! Oh yes. You just know that dad was thinking about that! No one ever forgets that first child being born and for that reason, Danny will always be special! Danny would struggle to feed and would end up dropping all the way down to five pounds even. Lucy said that he was the tiniest little thing they had ever seen. The staff at the hospital had to insert a feeding tube that went from inside his nose and traveled to his tummy. In addition, they gave him light therapy. Lucy described the love that she and Mike had for little Danny, “The love we felt for him was so powerful. I spent days crying, wishing that I could make him better and take his pain away.”
Things would continue to improve though for Danny. He would get stronger with each passing day and at last, the doctors said that he could go home with mom and dad. The only problem was that because of Danny’s early arrival, they had no home to go to. The final details on the house that they were due to buy had not been finished. Mum and dad to the rescue! They brought little Danny home with them to Lucy’s mum and dad’s until they were finally able to move into their new family home. I am quite sure that they were more than welcome there. Danny would continue to face challenges with his feeding as he had severe reflux issues. He could not keep his feeds down after eating. He was, however, a very happy baby. Lucy said that, much like herself, he was a bit of a late night party animal, Danny liked to stay up all night and sleep during the day. Like any new parent that is adjusting to having a new baby, Lucy thought that life was a little crazy back then. However, the challenges that they had faced up to that point were only the beginning. There was much more that lay ahead.
Life moved forward for this family of three. Mike was working lots of hours as a builder and he had started playing football again on the weekends. They were enjoying being in their new home and Lucy was caring for little Danny. Things were good but Lucy was noticing that she was tired all the time. She felt, at the time, that being tired was just part of being a new mom and it never occurred to her that something else could be going on. It was only six months since Danny was born but Mike and Lucy were given the news that she was pregnant again. This is how the news was received by the young couple, “We were over the moon that our children would be so close in age and even more so when we found out we would be having another boy.” Another boy and a playmate for Danny. Another little football player perhaps. Lucy said that she sailed through the pregnancy. That is until the completion of the 31st week. It was at that time that she felt like something wasn’t right. Lucy went straight to the hospital and it was confirmed by doctors that she was in labor. This time it was nine weeks before the baby was due to be born! Oh my gosh! Doctors gave her two options. The first one was to continue with the labor and deliver the baby. Delivering him this early in the pregnancy would bring a risk of death or other issues for the baby. The second option was to use drugs to stop the labor. They chose to try to stop the labor and thankfully it worked. Their newest little man had hung in there for thirty-nine weeks. He was born one week before he was due to make his appearance. It was on June the 17th of 2008 that baby Michael came into this world to join his family.
They named him after his dad but Mike and Lucy would begin to call him Micky. The name really stuck to him and he has been called by that name until this day. Micky weighed in at 7 pounds and 11 ounces. It was, go figure, a bit of a rough delivery. Micky was a bit battered and bruised, but otherwise, he was absolutely perfect in every way. There is something to be said for staying in your place as one should. Because he was so good, Micky got to go home with his family the very next day. This was very different from Mike and Lucy’s first experience and they were so happy that things went the way that they did. They were home and had two little boys! Lucy stated that once they returned home that the real fun started to take place. These two little guys were only fifteen months apart and as Lucy would put it, she “no longer knew the difference between night and day”. She would also admit that she loved every minute of it. Just as Mike had observed with his little nephew, Lucy was good at caring for kids. She loved it! Not only that but Mike had two sons. He was overjoyed! With the exception of having the same reflux issues that Danny had as a baby, Micky was the perfect baby boy. Things were really shaping up. Their boys were not only a blessing to Mike and Lucy but also to all of the extended family and their friends as well.
What do you think Mike did as the boys continued to grow? What else would he do but teach them about football! He taught them everything that he could about the sport that he loved. Both of his sons started walking just before their first Birthdays. Soon after, sounds could be heard coming from the garden as the boys ran after their father. With the the football being kicked you could hear the word “GOAL!!!” being sounded. Lucy said that she could remember how lucky that she felt at the time. She had Mike in her life and he was wonderful guy. She had two beautiful sons. Her feelings towards how life was at this time went like this, “Life was full of fun and laughter and it was more than I could of ever dreamed of.” They both had career goals and a nice place to live. Along with all of this, they had plans to increase the size of their family. First though, Lucy would return to work as Micky turned one. Life was good and it continued on for this family. One thing was for certain. This couple would have no issues with infertility. Just before Micky turned two years old, Mike and Lucy received the word that she was pregnant once again. Things would move along in the pregnancy and at twenty weeks they received the word that they were going to have another boy. Lucy said that it began to become a running joke that they were going to have their own football team at their house. Who could argue that things were starting to look that way. They were so happy with this news. They wanted to have a large family and they were going to have another son!
A Prince and a Princess Unaware
As was the pattern for Lucy’s pregnancies, so it was with this next one. Things would go well for the first thirty-four weeks. Once again Lucy would go into premature labor. I wonder what her thoughts were at this time. Something like, “here we go again!” They were given the same option as before and that was to use the drug that is necessary to stop the labor. They went for it as it had worked well the previous time. It did work well only not without complications. Lucy said that all was fine with the baby but she herself had become unwell. She had to stay at the hospital for a few days after receiving the drug but would recover and return home. It was, however, after a few days that that she began to feel unwell again and she had to return. After receiving a few scans, it was decided that they should go ahead and deliver the baby. Their little baby boy was born four weeks early and he weighed 6 pounds and 5 ounces. This took place on the 13th of January of the year 2011. Ollie was born. A prince unaware.
It never ceases to amaze me how mothers remember things about their children that are so specific. Of course Birthdates but sometimes also specific times and exact weights. Mums are like that. They remember specific things that happened with each child and feelings that were felt. I used the following as my opening quote but it fits perfectly here and it is so worth repeating. From Lucy, “To this day I remember the nurse placing this warm body onto my chest. I looked into his eyes and instantly felt an incredible bond. As quickly as this happened however our little boy who we named Ollie, our Olliebobs was taken off of me. I was not well and was rushed into theatre. A few hours later, and thankfully, I found myself holding this precious baby in my arms again. This time I had two more bundles of joy jumping on my bed desperate to meet the new edition. In that moment I didn't feel like life could get any better.” Due to issues with Lucy’s health, she and Olliebobs had to remain in the hospital for an additional four days before they brought him home. Lucy said that she was thankful for the time that she had with Ollie in the hospital. Four days for time spent just with Ollie. With each one of her boys, there was difficulty but the results made what she would have to go through so worth it. Three boys! She was definitely at this point, well outnumbered, but she was okay with that! Lucy said that even at the very young age that they were, Danny and Micky took very good care of their mum after her return home. She went on to say that they gave the best kisses and warmest cuddles. How wonderful these guys were as they continued to grow. They were and still are, great big brothers and man! Can they kick a football or what?
Mike was continuing to work hard for his family and he had started working towards setting up his own business. As stated before, he felt that it would be possible for his boys to join him in the business one day if they so desired. That would include their new little man that they named Ollie! Lucy continued to care for Ollie and the others but also added to that the pursuit of another degree from the university. This one in Care and Education. She, along with Mike, was driven towards achieving their goals. They had three little boys and yet Lucy continued with her education. It was her third and last year of her degree. She said that she spent that last year juggling all her responsibilities. This included night feeds along with assessments for school. This not to mention potty training and all the other things that mums do for their kids. Just amazing! That is enough to wear anyone out but as Lucy began to get tired she knew something was up. It came as a complete surprise this time but she again received the news that she was pregnant. Lucy said that her and Mike felt a little nervous this time. After all, their boys were still so young. Soon, their nervousness turned to excitement over the fact that they were going to have another baby in the house. They loved kids and couldn’t wait. Lucy said that they were well aware of the need to keep a close eye on this pregnancy, given her prior history. They had a lot of extra scans done of this baby and the bond with this little one was intensified by having them done. Lucy put their feeling in this way, “We had lots of extra scans and bonded with our little baby even before it was born. We watched this little wiggle on the screen get bigger and bigger each week, waving its arms and kicking its feet! It was an amazing experience.”
Twenty-Four weeks into Lucy’s pregnancy they received the news that their next baby would be a girl. With that, the family’s aspirations for raising up their own little football team were gone forever. There would be no team but they were having a GIRL and they were so very excited!! The excitement spread to all three boys and as a family, they were “over the moon!” A daughter and a little sister. Everyone was so happy! The joy, however, was short lived as only three weeks later complications set in. It was at that time that Lucy started feeling unwell again. This happened while out shopping and panic hit everyone. Lucy said that Mike, being the person that he is, was absolutely amazing. He kept the boys calm while getting in contact with Lucy’s mum who took her to the hospital. It was confirmed while there that Lucy was yet again in premature labor. Oh my gosh! This time it was 13 weeks before their little girl was supposed to be delivered. As Mike was rushing back to the hospital, Lucy received some very unsettling information. She was informed that if she was to deliver their baby at this stage, the baby would most likely die. She was again offered the drug that had been used twice now on her. She of course said yes! This time, however, there was an addition complication. Things went drastically wrong. Once given the drug Lucy was sent into anaphylactic shock. That being a life threatening allergic reaction. The hospital room was filled with medical staff who worked to save Lucy’s life. As Mike arrived, he stepped into a hospital room that looked like a scene from a movie. Lucy said that, like always, Mike was her rock as he brought comfort and helped her through her fear! The doctors and nurses managed to stabilize Lucy and her yet to be born girl managed to stay put. Over the next few days Lucy was ordered to bedrest. The doctors warned her that her baby could be born at any time and said that she needed to stay in rest. Lucy said that the days would turn into weeks and their unborn daughter stayed put. It was then that Lucy was allowed to return home with instructions to not move.
Lucy stated that her ability to remain still enough with three little boys running around was nothing short of a miracle. Their baby girl hung on for thirty-eight weeks and it was then that she made her own little dramatic entrance into this world. It was an extremely difficult birth and their daughter had to be resuscitated. This was terrifying to Lucy. Her sister had accompanied her into the labor room this time. Lucy still remembers the look of terror that was on her sister’s face and said that she will for the rest of her life. Lucy was not allowed to hold her baby girl as she had been so used to with her sons. Instead, she was taken away. They took her from her mum for an hour and while that doesn’t sound like a long time, to Lucy “it felt like forever”. Lucy was in the theatre (labor room) and had not known where her baby girl was. All she knew was that Mike had taken off after her as their daughter was taken from the room by hospital staff. She would of course be returned to her mum and amazingly, the doctors informed Mike and Lucy that their daughter was perfect! I had quoted Lucy in the first blog that I did about this family concerning what she was feeling as she held her daughter for the first time. Here is what she had said, “Breathing in that amazing newborn smell, feeling that warm breath on your skin, counting them tiny little fingers and toes. We had just been handed our beautiful baby girl, after a complicated pregnancy, and nearly losing her during labor.” They were now a family of six as the final piece was delivered in the form of this most perfect little package. She was absolutely beautiful. Lucy had this to say about their daughter after her chaotic entrance into this world, “She lay there looking up at me and Mike completely oblivious to the drama which she had created. Little did we know that this would just be how our little girl would roll.”
They had known in advance what they would name each one of their boys before they were born. Things were different with their new princess whom they had not yet picked a name for. Instead they spent hours looking through names trying to decide what would be a fitting name for her. She was to them so perfect in appearance! Finally, the name that was as perfect as their little girl was chosen. Amelia Faith Jasmine. She had been born on the 4th of March in the year 2013. She weighed 6 pounds and 13 ounces. Lucy said that they had never seen a more beautiful baby. This was confirmed by the fact that medical staff was stopping in to see her. They knew about her dramatic entrance into the world and were amazed by how utterly perfect she was. It was at this point that Lucy felt that their life as a family was complete and she looked forward to all of the precious memories that would be formed. So much had taken place during all of her pregnancies but they had all made it through.
The Bonding of a Family
Lucy said that the boys fell in love with their new little sister the moment that they laid eyes on her. In fact, they promised that they would look after her no matter what. There was no jealousy, just brotherly love and kindness. She went on to say that her and Mike felt blessed, thinking that they had the perfect little family. The running joke that they would one day have a complete football team had been broken up by the appearance of little Amelia. However, there were still three boys that most likely would pick up their father’s passion for the sport. As they continued to grow, it became apparent that football would be the king sport at the Carroll home. Even though it was early, so many memories were already being formed. The possibilities for what the future might hold were endless. A family formed by two hard working people, three charming little men, and a little princess. Lucy described the atmosphere in the home so perfectly as the children continued to grow, “Our house was always full of laughter, with children running around and playing. You couldn't walk a foot without tripping over toys. So many things got broken as the boys kicked their footballs around. Danny would spend hours training Ollie up to be just as good at football as he was. To this day I remember his shouting "Ollie heads, Ollie kick, Heads again Ollie. Yes that's it, yay, you have scored!" The cheers and the excitement that warmed our hearts.”
Their life together was a beautiful story in the making. In fact, it was already beautiful. Every family faces problems along the way. That is always to be expected. Mike and Lucy had faced some significant challenges but had made it through. They had their family in place and the future looked nothing but bright. They had many a conversation about what the future might look like as they talked about all that they looked forward to as parents. It was the type of atmosphere that dreams are made of. In the back of their mind, and in the forefront of their conversations, were all the life events that one would think of for all of their children. Neither of them had any idea what the future would really hold, or what additional challenges that would lay ahead. These were sweet times for them and their days were filled with joy and laughter. Lucy would say as much using the following words, “Without wishing the time again we often spoke about what they would be like as they grew older. Three brothers and a little sister. We laughed wondering if Amelia would love or hate having her brothers looking out for her, making sure no boys could get near.” With only a couple of exceptions, the families whose stories I have shared had no idea that a wretched disease such as Battens even existed. Without any warning, life at the Carroll residence would soon change forever. What one would normally expect, was not to be. Lucy conveyed that truth with the following words, “Little did we know that the future which we dreamed of would never be.....”
Mike and Lucy had no idea what type of a prince was in their midst but there was something truly special with this little man they named Ollie. The bond between him and his family was instantaneous and special. Gosh, he was cute. A future heart throb for the girls and a current one for his family. While things seemed like they couldn’t get any better, they in fact had. The entire family was elated with the appearance of a princess into the household. Although she gave everyone quite a scare, she had arrived into their midst and she was so completely perfect. From the time that Amelia arrived, all were instantly in love with her. This was for good reason and one that could clearly be seen. From the moment she began to smile, her smile became infectious. They thrived as a family and life was so good. The first eighteen months had passed since Mike and Lucy’s family was completed and the future looked so bright. Mike was working hard and was in the process of building his business. The same tenacity and work ethic that had made him great on the football field also made him great at work and at being his family’s provider. Lucy had finished her education and she was poised to one day return to work. For now, the house was so busy with four children happily involved in all their activities. The king of which was football. The sounds of footballs being kicked were sometimes followed by things breaking as the sport was practiced inside as well as outdoors.
Somehow, mum and dad didn’t always mind as much as one might expect. After all, the kids were doing something that was loved by all. You couldn’t walk very far without tripping over a toy or two. Kids have to have toys you know! There was laughter. Plenty of laughter and fun. No doubt, there were outings together to places that included grand mum’s house. Accompanied with all of this were thoughts of what the future would hold for all four of their children. Sporting and school events. Summer and winter vacations together. Perhaps Ballet recitals and other sweet things for the princess in the house. Graduations and successful careers. Weddings and a sprawling family as the size increased with grandkids. The list goes on.
It is too often that things don’t go as planned or as one might think they should. Troubles come our way. Things we would never expect to happen do happen and that sometimes brings devastation.That is the way it is with Batten Disease. Life already has it’s share of difficulties and we deal with them as they come to us. A rare disease such as Battens brings with it concerns that are on an entirely different level. Mike and Lucy had no idea how different of a course their lives as parents would take. Almost all at once they found themselves being part of a community, worldwide, that they didn’t even know existed. This part of their story will not only explain what would happen but also, how they would handle the unforeseen. Things would change forever as problems began to develop with their prince they named Ollie. Lucy stated that it was around the age of three that they noticed some things in Ollie that caused concern. One thing was that he had some delay in the development of his speech. This had occurred in Ollie’s older brother Micky as well, however, Micky had caught up with the other kids when he started school. When they mentioned Ollie’s delayed speech to health professionals they felt that he would catch up just like his older brother did. While there, they also mentioned the fact that Ollie was a bit clumsy but as you might guess, the doctors felt that Ollie was just being a boy. Ollie was attending preschool at the time and he just loved it. He was hitting all of his milestones, with the exception of the delayed speech and potty training had been no problem. Mike and Lucy must have been relieved by the fact that the doctors felt everything was just fine. That was until the month of September 2014. Ollie had his first seizure.
The day had been very normal and Ollie had attended his preschool. He had done well that day and he was happy when he was picked up. As they had returned home, Lucy had noticed that Ollie felt warm and he had a temperature when checked. Her concern for him was great enough that she brought him to get checked out by medical professionals. It was found that Ollie had an ear infection and so antibiotics were prescribed as the family was sent on their way. Ollie returned to running around with his brothers after receiving a dose of the medication and all seemed to be fine again. It was later that night, while bathing, that trouble would strike. It was then that Ollie began to have a seizure. Lucy stated that it was the most terrifying thing that they had ever witnessed. Ollie actually slid under the water while seizing. Fortunately, Lucy was close by and screamed for Mike to come quickly as she pulled Ollie out of the water. Mike flew into the room as Ollie continued to seize. Lucy said that it was as if time had stood still while all of this was happening and who could argue with that. Mike continued to care for Ollie as Lucy called an ambulance. The seizing stopped in a few moments as they waited, but as it did, Ollie stopped breathing. What must have been part of Mike’s training as a former lifeguard kicked in and he started to perform CPR on his very own son. That is amazing calm in the midst of chaos.
Lucy said that flashbacks from that day still haunt them. She went on to describe to me what she had seen happen with Danny and Micky as all of this was happening, “I can remember looking up from Ollie, who was laying on the floor, into the eyes of Danny and Micky. They stood in the doorway watching and pure fear filled their young eyes. But even so, they knew what to do as they picked up Amelia who was still a baby. They flew out of the door to our friends next door.” By Mike’s quick actions, Ollie began to breathe again. Of course, Ollie would get checked out by doctors who came to the conclusion that he had experienced what is called a febrile convulsion or seizure. This is a type of seizure that is associated with an elevated temperature. Mike and Lucy were assured that these are common in children and that 9 out of 10 times, they are never repeated. Ollie was discharged from the hospital the next day, much to the families relief. Their little Olliebobs was okay! It was, however, only hours after returning home that Ollie would have another seizure. According to Lucy, they were told by the hospital that it was a convulsion related to Ollie’s infection. That, though, was not to be the case. These seizures were not isolated but rather would become part of a larger problem. Over the next few weeks, Ollie began to have more and more seizures.
It is only fair in considering that Batten Disease is rare, that it may not be diagnosed quickly in all cases. It should, however, be known of in every place that medical science has it’s reach. Mike and Lucy were devastated with the diagnosis of Generalized Epilepsy. Almost all at once, the plans that they had made were interrupted. At least as they applied to Ollie. Questions arose. Would he be able to drive a car or even function normally as he got older. They were at this point, optimistic overall and felt that Ollie’s condition could be handled through medication. It would control the seizures and he could lead a close to normal life. It should come as no surprise that Ollie was referred to a neurologist because of the seizures. Lots of questions were asked about Ollie’s development and it was at that point that Mike and Lucy brought up Ollie’s issues with his speech and his clumsiness. Obviously this doctor knew the questions that needed to be asked. As a result of the information that she gathered from Mike and Lucy, it was decided that more testing needed to be performed. A lot of testing was performed. This included EEGs, CT scans, and MRI scans. Lucy said that it was as a result of the MRI performed that they learned Ollie’s cerebellum was smaller than it should be for a child his age. This is commonly seen in children that suffer from Batten Disease. I don’t even think they knew the disease existed at this point. Lucy stated that it is this part of the brain that controls areas of development such as balance. This was the cause of Ollie’s frequent falls. It was at this point that it really started to appear that there was something going on besides regular Epilepsy. Mike and Lucy were really starting to worry, and for good reason. The doctors wanted more testing performed. Lucy would tell me that Ollie was tested for a group of conditions through blood testing. Mike and Lucy did a Google search with each one that they learned about, checking Ollie’s symptoms against what they learned. They crossed each one off as Ollie’s symptoms didn’t match. Within a few weeks, they received a call asking them to bring Ollie in for a consultation a couple of days from then. An appointment would be made for the middle of February, 2015.
The Day Not Forgotten
Lucy said that she felt relieved at that time, thinking that it couldn’t be bad news coming. This, she felt because they wanted them to bring Ollie in with them. It was, however, as soon as they arrived that they felt something to be very wrong. This because the appointments room was completely empty. This gave them a sinking feeling as that part of the hospital is never empty! It was now though, with the exception of the staff. Lucy said that they had never been to this particular part of the hospital before and she had made note of the appearance of it. It was very white and clean looking. She felt that the area had a funny feeling about it. Like a feeling of sadness. As they entered the doctors room, they were greeted by a number of health professionals and they would know what they were facing in a matter of minutes. Lucy described the entire seen with the following words, “The date the 13th of February 2015. A day that will stay with us forever. I can remember the color of the walls, even the smell. As we sat in that small room with Ollie on his daddy’s knee we were told that our child has Battens Disease, that there is no cure and that life expectancy is between six and twelve years. Ollie was just four years old! Our world fell apart in that moment. We were told Battens Disease was so rare that they had never come across a child with it before.” Everytime that I have done one of these stories, a dramatic picture is painted by the words given to me by the parents. This, because it is so very difficult for anyone to receive this kind of news. It doesn’t matter how strong of a person you are because no news could be more difficult than this to receive. Lucy’s own words paint the scene perfectly, “Our little boy was dying! I remember looking across at Ollie in disbelief, watching him looking up at his daddy. Smiling, wiping his father's tears away. We asked the doctors where else there was treatment. There had to be something, somewhere in the world. We were told there was none.”
Mike and Lucy were given information about Batten Disease. Then, they were told to take their son home and and enjoy him for as long as they could. They were sent on their way, that is all that there was to it. Lucy stated that the next few days were a mix of pain, sadness, disbelief, and anger. They kept reading the symptoms and felt that Ollie’s symptoms did not match up with them. They began to research the disease, thinking that they couldn’t give up on their son. Mike and Lucy felt that they had been let down by the doctors. As they worked through their grief, they pressed on in search for help with Ollie. Through their search, they found BDFA (Batten Disease Family Association) and reached out to them. They also reached out to families in the United States that were already dealing with the disease. The first person that Lucy had made contact with had a beautiful daughter that also had CLN2 Battens. Her remarks about that initial conversation are worth noting, “That conversation will never leave me. Through this father’s own pain he somehow found the strength to support us. This is something we will forever be grateful for.” This is one of the things that I have observed to be so wonderful concerning the Batten community. That would be the amount of support that these parents give to one another. It is truly something special. Only they can know what they as Batten parents are feeling.
It was a few weeks after Ollie’s diagnosis that Lucy started a Facebook page for Ollie. She had started the page initially to keep family and friends informed about Ollie and his struggle. As a family, Mike and Lucy had no idea, at the time, what kind of impact they would have on the Batten community there in the UK and elsewhere through Ollie’s Army. For that matter, they had no idea how their own lives, and the journey they would take as a family, would be impacted by the other families they would meet. What started as only a way to keep family informed would eventually become so much more. The awareness that would be raised and the people that they would meet is very worth mentioning. The help that they would seek for their own children would also be a help to others with Batten Disease. Ollie’s own need for help would impact other people’s lives. This would all happen as Ollie’s journey continued. Eventually, through their own search, Mike and Lucy found a specialist in London who they thought could help. They made an appointment to get in as early as possible. Lucy said that the doctor could not believe her eyes after seeing Ollie for the first time. This because, at that time, she had never met a child with Batten Disease that was as well as Ollie was. She was used to seeing children that are farther along in the disease by the time they are diagnosed.
Batten Disease is considered to be rare. While there, they would learn that Battens was transferred genetically. Therefore, their other three children had a 50/50 chance of also having it. Mike and Lucy decided to have all three of Ollie’s siblings tested as early as possible. Already dealing with heartache of what had befallen the couple’s darling Ollie, they would be given disheartening news. They were relieved to know that neither Danny nor Micky had the disease. It was, however, revealed that little Amelia also had CLN2 Battens and would one day start showing symptoms. Their princess! The one that they had been overjoyed to receive. She had made her own dramatic entrance into the world and she was just getting started with a new challenge for this family. Lucy described what it was like immediately after receiving the news from the medical professionals, “For the second time our world fell apart as we learnt our beautiful princess also had Batten Disease. Amelia had only just turned two, she had been hitting all her milestones, to look at her you would never know. Walking out to our boys in the waiting room, trying to hold it together and act normal has to be one of the hardest things we have ever had to do.”
That was on the 30th of March, weeks after Ollie’s diagnoses. They received the news that their princess also had Batten Disease. Lucy further described the mood within the house as they returned home to digest what they had just heard. “For days all we did is cry. I could not stop being sick due to shock whereas Mike locked himself away from everyone.” This went on for a few days and then Lucy said that they pulled themselves together. I have read similar things from other parents. The shock and devastation eventually give way to determination. This, even though the heartache remains constant. In her own words, “.....there was no way we were going to let this horrific disease take our children without a fight.” So this all raises a couple of questions. How do you handle adversity such as this? What do you do when two of your children, or even just one, is diagnosed with a horrific disease that you didn’t even know existed. Everyone handles things differently. I would think that most every parent is determined to provide the best possible care and also to fight off this monster of a disease as best they can. Some do so quietly as a family and that is perfectly fine. Others share their child’s journey on social media. They want moral and other kinds of support from outside They want people to know who their child is and what the journey is like. They don’t want their kids to be forgotten! Still, others know the importance of spreading awareness about this disease. Much progress has been made but this is no time to quit. The difference between knowing and not knowing is profound. Especially as it relates to the medical community. People in public office need to be aware, as well as, the general public. And then, there are others that take up a leadership role within the community. They do things, not only for their own child’s benefit but also for the benefit of others. This may come from taking advantage of opportunities that present themselves. It can also come from intentionally seeking to take an active role. I believe that almost all of the above applies for Mike and Lucy. They have become very public in their battle against Batten Disease and it has benefited others as well as their own family.
It all began as they searched for help with Ollie and Amelia. Lucy said that they had found a clinical trial that involves Gene Replacement Therapy. Both Ollie and Amelia were accepted, but just as they were, Mike and Lucy learned of another trial that was being done. This one was taking place at the Great Ormand Street Hospital (GOSH) in London. The couple researched the trial and found out that it involves replacing the enzyme that was missing in Ollie and Amelia’s brain. The program was creating incredible results. The only problem was that the trial was closed. Ollie and Amelia met all the criteria for acceptance but the trial was simply closed. Pleading with the doctors was of no use as they were powerless to help. How absolutely frustrating. Grieving over the recent news that two of their children were terminal. Knowing that there was something that could extend their little lives with the hope that a cure would be found. And yet, entrance into the trial was closed. That is when Mike and Lucy reached out to the Batten Disease Family Association (BDFA). With the help of BDFA, they worked towards convincing the pharmaceutical company (BioMarine USA) to grant Ollie and Amelia access to the trial on the basis of compassionate use. Lucy said that it took months and months of midnight calls to America, emails back and forth, bringing health professionals on board. Finally, with a lot of determined effort they were able to organize a meeting with the company and it would be held in Paris. They traveled there, along with representatives from BDFA, to meet with company representatives and others from around the world. The result of this meeting is that the company opened up five places at each trial centre across the planet. That, my friends, is significant and a product of great leadership. It also comes from parents that want the best for their children and will stop at nothing to get results. Lucy put into words their feelings of gratitude towards those that made this all possible, “We cried upon receiving this news. The BDFA and health professionals worked tirelessly to enable this to happen and we will never be able to thank them enough for taking on our pleas for help and support for our two children.”
Making Their Case
Even with this decision, the company still had to be convinced that Ollie and Amelia met all of their criteria for the trial. Finally, after many assessments and sleepless nights, both of their darling children were excepted and the process was begun. Lucy stated that her and Mike were so thankful that both of their children were given a lifeline of hope. They also felt uplifted, knowing that their efforts had helped in giving this opportunity to other children across the globe. Ollie had brain surgery in November of 2016 to have a port inserted into his brain. This, so that he could receive the chemical that replaces the missing enzyme. Amelia would join her big brother at GOSH in February of 2017. The infusions take four hours and the family travels from Manchester to London every two weeks. This, obviously, takes a strong commitment as they juggle everything that life throws their way. The results are so worth it though. Lucy stated that they would have traveled to the other side of the world for their kids to receive this treatment. Both Ollie and Amelia are responding well to it. Sadly, Ollie had progressed further into the disease as they worked on getting their children accepted. He could no longer walk unaided by the time the he started the therapy and he was only able to say a few single words. There is no doubt that the enzyme replacement has had a major impact on increasing Ollie’s longevity and general health. The treatment has stabilized the disease in him. He no longer experiences the pain that he was having and his seizures are well controlled. He has only had one seizure in the last 16 months compared to the hundreds he experienced before he began the therapy. Ollie goes to school and enjoys swimming with his daddy. He is a doll of a young man and a genuine prince!
It needs to be noted that what you see with Ollie and Amelia is a contrast between early diagnosis and treatment, and having to wait. Amelia is thriving on the treatment because her Battens was discovered so early and the therapy was started right away. She, in fact, is one of the youngest children to be receiving the the treatment. She started the treatment so early that the only sign of the disease was a single seizure and that was attributed to sickness. Lucy describes the exceptional quality of Amelia’s life. This even though she has Battens, “As far as we are aware Amelia is the only child in the world who should have symptoms of Batten Disease but doesn't. Instead she is thriving, she goes to mainstream school, where she plays and interacts with her friends, she enjoys mark making and phonic lessons. Amelia can learn new information and retain it. She can run, dance, Juno and sing. These are all abilities which she should have lost a long time ago.” Lucy goes on to say that Amelia is learning to count, write her name, and ride a bike. Just like any other child. Mike and Lucy were extremely happy in what they were seeing in both of their Batten children. The enzyme replacement therapy had produced positive results in both of them and so they were excited by the news that the drug being used was approved by both the FDA and the EMA. In Lucy’s own words, they were “over the moon.” Once this happened, however, a new fight would loom on the horizon.
Mike and Lucy would remain involved and Ollie’s Army would continue to become more than a name. As mentioned before, the Facebook page named after Ollie was originally set up to keep family and friends informed but it quickly became much more. Major awareness was created through Ollie’s Army and some of that came with the help of some well known celebrities. I bet that, like the rest of us, they were taken by the appearance of these two attractive children and their family. Fundraising events have been held in the local community and the results are absolutely amazing to me. While a lot of the funds raised have gone towards Ollie and Amelia’s needs, a lot has been done for the fight against Battens in general. A big example happened recently. Ollie’s Army was able to raise and donate £30,000 to help in the research of therapy for the eyesight of children with CLN2 Batten Disease. In case you are curious, I did the conversion and that amount is over forty-two thousand in US dollars. This family is aware of the fact that this research comes too late for Ollie. However, it could help Amelia. They have also done this in the hopes that it will help others in the future. That is so commendable! Fundraising for their children has helped fund equipment and adaptive changes that were made to their home. Some of the funds have helped with the expenses related to the treatment and also help with making precious memories. They have also used funds to help support BDFA in their efforts as well.
An Army Like None Other
There are so many very kind people that have helped in their effort through donations and the giving of their time. One example is the help that they received with the building of an extension to there home for Ollie. Mike was able to receive the help of others in the construction and it became a real community project. This included the installation of a lift and a hoist for Ollie. Lucy describe the feelings of gratitude that she had at the time, “It was an extremely emotional time adding all this equipment to our home that we needed but did not want to accept. This was made easier by the people around us supporting us every step of the way. We even had the children from our street coming to help it was so heartwarming.”
Ollie’s Army holds a Golf Day and Ball each year and it takes an incredible amount of help from others. Their are some really incredible ladies that do this even while working full-time jobs. There is also a Family Fun Day held each year. The event which, includes a football tournament, hosted over a thousand people this last year. This included a few famous faces. Lucy said that all of this would not be possible without the help of their fantastic friends who give of their time. A network of amazing people has entered the lives of the Carroll family. This all, no doubt, makes something that would be almost unbearable, a lot better. Lucy would also tell me that people that were complete strangers to them have reached out to their family, wanting to help with Ollie’s Army. She said that these people have no idea how much their kindness means to Mike, Lucy, and their kids. All of this has helped them get through some very difficult times. The beautiful thing is that as this family is helped, they help others in the process through their own actions. Lucy summarizes the entire experience in her own words, “Ollie's Army was created to raise awareness of this horrific, rare disease. We have met so many incredible people throughout our journey. It's made us appreciate life and helped us to understand that there are so many people having to battle battles everyday.”
There are some notable people that this family has met along the way. Now, I have referred to Mike, Lucy, and their kids as my royal family and they will always be that. (They are every bit as attractive of a couple as those that have belonged to the British Monarchy). As a family, they have been in the presence of royalty. That would be so by being in the presence of Prince Harry. I know that for them, he turned out to be a really neat guy. According to Lucy, Prince Harry first met Ollie at something called the Wellchild awards. You see, Ollie had been nominated for an award as being the most inspirational child. Well, go figure. He won! What happened there was so sweet. Lucy described the seen, “At the award ceremony Ollie met Prince Harry. As Prince Harry was knelt down speaking to Ollie, Ollie who could no longer walk or stand unaided used all of his strength to stand and hug Prince Harry. It was a magical moment which hit the headlines across the world.” That is amazing Ollie! It would be six months later that Prince Harry would stop in at GOSH to see Ollie and Amelia. What a wonderful thing to do. I think that I am a fan of Prince Harry now. From an ocean and a continent away!
Ollie’s parents had been fans of Ed Sheeran, the musical entertainer, for some time. They passed on their love for his singing ability to Ollie. Ollie loves Ed’s music and he would sing along to his songs. That is until he lost his ability to do so. I know that Ollie’s face still beams with a huge smile when he hears Ed’s music. Ed is not only a gifted musician and singer, but also a great entertainer and his music has seen Ollie through some very difficult times. Ollie’s love for Ed’s music was revealed to Ed through a social media campaign set up by Lucy’s sister Emily. This got Ed’s attention and the entire family was invited backstage to meet Ed while he was performing a concert in Manchester. I can only imagine what a treat that had to have been for the entire family but especially for Ollie. I bet that Ed had really endeared himself to Mike and Lucy for having done this for them. I am also thinking that meeting this family was really meaningful to Ed and I bet he was inspired to be even more of a humanitarian. What a truly neat experience for all involved.
Mike and Lucy recently had the opportunity to appear on the largest morning show in the UK, which is called This Morning. While there for the appearance, they had the rare opportunity to meet the Prime Minister of the United kingdom. Theresa May was also appearing on the show that day and it gave the couple the opportunity to speak with her. They shared with her about the disease that confronted their children and the treatment that they were receiving. Mike and Lucy really appreciated the time that they were given with the Prime Minister. Oh, and why was the couple invited onto the show? That was to discuss the impact of the recent decision by NICE (The National Institute for Health and Care Excellence) to not recommend funding by the National Health Service (NHS) for the treatment that Ollie and Amelia are receiving. This doesn’t only affect them, but also the others that are receiving the treatment. This is the battle I referred to that was looming and it also affects children who are waiting to start the therapy but can’t because of the decision.
A Life Unexpected
Mike and Lucy’s days are busy. There are all of the normal responsibilities that come along with having a family. Mike’s work as a builder and Lucy’s work at home. There are two big brothers in Danny and Micky that are involved in all the normal activities. This includes school and football of course! They have to be the best big brothers because they have two younger siblings that require a lot of attention. There is also a princess in the house and a princess always requires a lot of attention. Especially when yours is a Batten Princess that is undergoing Enzyme Replacement Therapy. Her little self goes to school and does all the “normal” things because the therapy is working! They also have a very handsome young prince at their house. There is a very special bond between him and his family and their world revolves around him. That is because it has to. He is a Batten Warrior and he needs help as he fights. He is a royal rockstar! There are appointments to keep and that is not to mention a trip to London every two weeks. There is always messages and emails to answer. Planning of events and daily entries in Ollie’s Facebook page. Awareness, awareness, awareness! The list goes on and on. Oh, and maybe there is a certain blogger that needs more info to include in his next story. Even with all of this going on, they remain in the lead alongside BDFA in trying to make sure that that Enzyme Replacement Therapy remains funded.
I had stated at the beginning that I had written a short blog about the Carrol family when I had first started writing. The following quotes what was written by me in my first blog about this family. It was named “My Kind of Royalty” and the words that I had written still stand true. I know so much more about Ollie and Amelia’s journey, and Batten Disease for that matter, than when I first started. The more that I know and observe about this family, the more impressed I am. They have remained accessible to me even with everything that they have going on. Here is what I stated at that time,
“And now let me tell you about an entire family that has become royalty to me. There have been several famous couples that have been showcased by the Royal Family over the years. In my humble opinion there are none that have anything appearance wise on the couple that is Mike Carroll and Lucy Faith. They are both very attractive people. When an attractive couple decides to have a family that usually means that their children will be attractive as well. It is easy to see that is in fact the case. Ollie and Amelia and their other two boys are all very nice looking indeed. Adorable is more the word that I think of when looking at all the pics. Prince Ollie and Princess Amelia are among the many children that have become the face of Batten Disease.”
Here is more of what I had say at that time, “I can only imagine that Mike and Lucy would prefer that this guy from Oregon USA didn't even know who they are. Like any other couple, they just wanted to be a regular family. Raising their children in the safety of their home. Sharing in the experience of seeing each child grow and develop into adulthood. They just looked forward to seeing each one achieve success individually as they grow together in the bond of family and tradition.”
Isn’t that what everybody wants in a family? Things do not always go the way we want though. What do you do when problems arise? How do you respond? I believe that this couple, this family, is a shining example of how to handle adversity. I know that they would give anything to have all four of their children healthy and whole. Mike and Lucy would probably prefer that they didn’t know what Batten Disease is on such a personal level. However, in the face of adversity, they are giving this their all. Aiding in awareness, funding, and research as they battle Batten Disease. Maximum effort with real class! There are so many others in the Batten community that I also have a profound amount of respect for. Yes, it is a tragedy anytime that someone is told that their child has a disease for which there is no cure. However, the details of the undying love and tender care that take place are without equal in beauty. This family will forever be royal to me because of all they have done in the battle against Battens. It is also true that within their home resides a prince and a princess. What once was my conclusion by appearances, is now very evident through fact. Forever Royal - The Final version.
Blogger and Advocate
This blog article was originally done in two parts back in 2018. I learn new things as I continue to write these stories and I decided that it was best to make Forever Royal a one piece story with subtitles. In doing so, I have taken out things that I considered to be just fillers (Me stuff) and have made it all about Ollie and Amelia, as well as, their entire family. That is the way that it should be. Right?
The Carroll family is amazing to me. They have done everything in their power to bring about change and greater awareness when it comes to CLN2 Batten Disease. They play a big part in the fight to get Enzyme Replacement Therapy approved and funded by the National Health Service (NHS) in the UK. I wish them, and all others, in this battle the greatest success. It is this writers opinion that reversing the decision to NOT fund the treatment for children with CLN2 is the right thing to do.
“As the seizures were occuring back then, I did not know what to think. I had never seen a seizure before Raelynn started having them, so I was honestly terrified. I was very concerned because I did not know why this was happening.”
Why these families and what is it that makes them so special? I have talked about this at length on several occasions. To be told that your child has a fatal disease is without question, the most devastating news that a parent can receive. That is what each family faces when they are told that their child has Batten Disease. The way that devastation and grief gives way to determination is almost always a central theme in these stories. Going from complete despair to having the will to help these kids fight a battle is always worth talking about. Ordinary people that have been asked to do something that is extraordinary. Have I worn that phrase out yet? Those of us that are on the outside looking into the Batten community know that it conveys the truth. This writer realizes that there are several thousand rare diseases that affect children. I believe, however, that the families that battle Battens represent well all families affected by these diseases.
I truly believe that what Batten families go through and the way that they handle the journey is remarkable. I however, never want to make it seem that I am trying to glorify the experience. I know that it is truly heartbreaking, but when I read the details of undying love and total devotion to these children, it makes me want to share these stories with others. Never, have I meant to make the Batten journey sound like something that should be sought after or something that is wonderful to experience. The journey that is Batten Disease does carry with it a right of passage. That makes those who take it part of a special group. Only they can truly understand what it is like to experience such a thing. Then, there are the children. These kids do something to me. The things that they teach us about what is important in life, while being unaware that they are doing so. Well, I can’t even find the words. The way that they remain happy during the most difficult of circumstance is just amazing to me. The way they fight with everything that they have and the way that they tug at our hearts while they do so.
I always appreciate it when I get comments from those who are connected to the Batten community in one way or another. This time, I received a comment from my long distance friend Joan Avery. She is a very special Batten granny who has a granddaughter named Montanna. Montanna battles Juvenile Batten Disease and Joan contributed to the story that was done about Montanna. It was titled Sweet Montanna and The Status. Montanna is another beautiful young lady that is in the middle of the battle and her and Joan are, of course, very close to one another. Joan shared what she sees in Batten children in a concise but insightful manner with the following, “I haven't seen one single Batten face that I did not consider beautiful! These kiddos and teenagers are a reminder of the beauty, love, and desires that this disease has tried to steal from them. They are some of the most precious humans I know. They want nothing more than to be seen and recognized for the person they are. I love every single one of them!”
Joan speaks out of her own experience as Montanna’s grandmother and I would want to echo her words. This, by stating that I would like these kids to be seen and recognized for the special people that they are. That is the biggest reason that this blog exists. These kids are the most amazing and they change people’s lives. Yes, there is much sadness involved but the effect that these young warriors, and their families, have on the rest of us is without question genuine. The families will tell you that they are just doing what needs to be done but the rest of us may see things differently. Those of us on the outside see what they do as extraordinary. Thus, the meaning behind my little phrase that I like to wear out. To work past the grief and to set out to take each day, one at a time. That is something that people like me greatly admire about Batten caregivers. And again, there are these children and young adults that I consider to be the most special. Joan is right. Batten Disease will try to take away everything that makes them who they are. In the process they show us a heroic kind of effort that is seen in warriors that are unaware. They battle SO sweetly and this writer is totally stuck on them. One such warrior is someone like little Raelynn. She’s yet another one that will steal your heart, never to give it back. This story belongs to her and also to her mom. The name of Raelynn’s mommy is Morgan Myers and their life together makes up another very sweet story. This is how that story begins.
Her Little Story Begins
Just as it would be for most young women, Morgan dreamed of having a family. She had a man in her life that she cared for deeply and she wanted to spend her life with him. This life would include children and she was so pleased to find out that she was expecting her first child. Her pregnancy would go smoothly, with no real complications. In addition to that she was told that she was going to have a little girl. Morgan would have a princess in her house and for this reason, she was more than excited. As June of the year 2013 approached, so would the time that Morgan would give birth to her baby girl. This precious bundle would not make her entrance into world with ease. Morgan would end up being in labor for 34 hours. Tried as she might, she would not dilate to the point that her baby would come to her in the natural way. As a result, her princess would be delivered by Cesarean section. Little Raelynn Faith, as she would be named, would make her entrance in the life of Morgan on June the 1st of 2013 at 5:30 in the evening. Raelynn was flawless. She had all of her fingers and toes and she was covered in brand new baby skin. She was perfect and perfectly beautiful. Just look at her!
Right there by Morgan’s side for the big event was her mother Rhonda and her best friend Kylie. Raelynn was born at Meritus Medical Center in Hagerstown, Maryland. She was born at the healthy weight of seven pounds and ten ounces. Seeing her little girl for the first time was unlike anything that Morgan had ever experienced. She felt nothing but pure joy as she held Raelynn for the very first time and that joy was shared by her mom and best friend. Morgan shared that the experience also left her feeling a bit overwhelmed. This, as she sat there, looking at Raelynn’s adorable face. She was thinking about the responsibility of being a new mom, and that, at such a young age.
Morgan would, in fact, find parenting to be a challenge. Just as any first time parent would. She, however, would encounter challenges that are not seen by many. There would be a set of rare circumstances surrounding little Raelynn that no one could have seen coming. There was no way to know as you looked at this most perfect little creation. All seemed to be fine at the time that she was brought home. Raelynn continued to grow and amaze people as she did. She quickly became Morgan’s focus and the center of her attention. Raelynn brought so much joy into Morgan’s life and who could not understand how that would take place. Watching children as they grow is an experience that is never forgotten. All of the cute and priceless things that kids do as they are growing never leave our memories. They provide memories that are priceless. These are some of the things that we look forward to and they are the things that we never forget. Raelynn’s early development was right on track! She was reaching her little milestones on time and that made Morgan so happy as she looked on. Morgan said that Raelynn would learn to walk at age ten months and she was saying so many words early on. She was just so adorable to look at and Morgan was pleased with what she was seeing.
As Raelynn was approaching age two, Morgan noticed that her speech was a little bit delayed. She wasn’t picking up on the gift of gab like other children her age. This can sometimes be the case and children most often catch up with their peers later on. Everything else was right on track and so Morgan wasn’t too concerned at the time. Things would change in Morgan’s thinking as Raelynn turned three years old. Her speech was not catching up to others her age and it was becoming more of a concern. Could this have been something that was a precursor to a larger problem? Was it a symptom of something yet to come? At the time, Morgan was thinking that it was something like Autism developing in Raelynn. However, it would be soon that other things would start to happen. Things that would concern any parent and things that would lead any parent to search for answers. It was October of 2016 that Raelynn had her first seizure.
Raelynn had come down with a stomach virus and had been taken to the emergency room at the hospital. That is when the seizure occurred. At the time, Morgan had attributed the seizure to a high fever or perhaps to the Zofran, which was the prescription that Raelynn had been given for her upset stomach. I know from doing other stories that this would have been the first thought of most any physician concerning Raelynn after the first seizure. I wish that this could have been the case, but it was not. Raelynn had another seizure after only a few days. She then continued to have them about once every month or every few weeks. This, of course, was alarming to Morgan and all of those who were close to her and Raelynn. Morgan had never witnessed a seizure before they started to occur in Raelynn.
Much of the support that Morgan would receive would come from her mom. As for Raelynn’s father, he was nowhere to be found. This because, according to Morgan, he was scared off by the fact that Raelynn was having seizures. I don’t want to digress here, but I had some thoughts about how people respond in a time of crisis and what makes a good parent. What really comes to mind is some of what I have become aware of since the time that I started doing stories about families that battle Batten Disease. There are certainly many amazing moms out there. I have often said that there is no love like a mother’s love for her child. It is, however, true that there are some really amazing dads out there as well. I am privileged to know of some that exist inside the Batten community. What I have found to be so very special is the men that have stayed by a women’s side even when they have other options. By that, I mean men that are “all in” concerning a relationship with a women even if it includes a child who has something like a seizure disorder. This is especially true when it includes the diagnosis of a fatal disease. These are the kind of men whose actions are, in my mind, heroic as they can be counted on when difficulties arise. For them, a girlfriend’s children are not just a necessary inconvenience. These kids are ones that should be loved and cared for in addition to someone that you are in a relationship with. Men who exhibit this quality of character are the kind that I am thoroughly impressed with. Okay, let’s continue.
Morgan would, of course, seek the help of the medical community. There would be numerous visits to the hospital when Raelynn had a seizure. Finally, Morgan would seek the help of a pediatric Neurologist. She would find one for Raelynn at an outpatient clinic for Children’s National hospital. The clinic was located in Rockville, Maryland. Once this happened, a two year effort to control the seizures would take place. Two years! The early diagnosis was that Raelynn had epilepsy. Several medications were tried but none of them would bring about a successful result. Raelynn’s seizures continued with little to no control over them. Finally, Morgan felt that enough was enough. She wanted answers as to what was going on with her daughter. It wasn’t only the seizures that were alarming to Morgan. She was also seeing regression in Raelynn’s abilities. Her speech was worsening and she was becoming very clumsy. Raelynn was constantly falling down and this had resulted in her breaking her foot in the summer of 2016. Morgan felt overwhelmed by what she was seeing and she was gripped by fear. Here is how she would put it to me, “I was terrified that the seizures were hurting her brain and she would regress more. I wanted answers for my baby and all they kept giving us was more seizure meds.”
Raelynn’s seizures would have a profound impact on Morgan’s ability to lead a normal life. For example, her ability to hold down a job was affected greatly by Raelynn’s seizures. It seemed that she would get called away from work constantly as the seizures occurred. This would necessitate that she become a full-time stay at home mom. I can only imagine how difficult it would be to go to work, knowing that you had a child at home that was suffering from seizures. How would this affect your ability to concentrate? There is no doubt that Morgan’s social life was impacted as well. The priority would, of course, be with Raelynn. Morgan would begin to receive social security disability to help with Raelynn’s needs but I am sure that there were still financial challenges for her. Having her mom’s continued help was of the greatest importance and it was necessary that Morgan move back home. In fact, Rhonda requested that Morgan move back into her home so that she could assist with Raelynn. In Morgan’s own words Rhonda and Raelynn “are inseparable”. Who could not understand how that would be the case? Even though the seizures had placed a limit on Raelynn’s speech, she could still be heard saying the word “Nana” quite frequently. That is what she calls Morgan’s mom. Way to go Nana. I am sure that the bond that you share with Raelynn is quite special!
Morgan would need this support as the seizures continued to happen. She needed answers and was not getting what she wanted. The staff at the hospital in Hagerstown had to have seen the frustration that was mounting with Morgan. This, as they were at the hospital once again with Raelynn. The medications that the Neurologist had been giving her over the course of time were not working and local doctors could not figure out what was going on. More medications were being added and the dosages increased. All of this was to no avail. On this visit, they offered the option of having Raelynn evaluated at Children’s National hospital in Washington, DC. Morgan took advantage of the opportunity by choosing this option and they would be transported there, to DC, by ambulance. Morgan and Raelynn arrived a few hours after the initial appointment began. This was all taking place in February of 2018 and it would be much more than just another simple appointment. Morgan and Raelynn would be there for almost two weeks. There would be a number of tests that were performed and these would include several EEGs and MRIs. This neurology team was on top of things and they were very knowledgeable. Children’s National is ranked among the top five children’s hospitals in the United States and Morgan would soon get the answer that she sought. This, even if it was not one that a parent would want to receive.
The doctors would include genetic testing in their search for answers because they knew that potentially, something very serious was taking place with Raelynn. I can only imagine the level of concern that Morgan had for her little princess. It must have seemed like a very long time as she waited to hear something from the doctors. The wait would come to an end and Morgan received the initial results as told to her by the neurologist. Here is what she had to say about the doctors comments, “Finally a head neurologist came to our hospital room and told us the results of her MRI. He said that the results show " brain atrophy". I had no idea what this meant until he said it meant brain shrinkage. This is when I started to get very nervous. He said we would not get the genetics testing back for a month but he was very sure it was a type of Batten disease.” The doctor would know this because of the level of knowledge that was held at this hospital. This is the type of experience that was needed.
From Despair to Help to Hope
Morgan would return home that night with Raelynn and she did what most any parent would do upon her return home. She Googled the disease so that she could be informed about what it’s impact would be if that was what Raelynn had. Any parent that researches this disease is horrified by what they read. Batten Disease is fatal and, to date, there is no cure. I am sure that Morgan was gripped with fear and deep concern as she read the details about Batten Disease. Morgan would tell me that she prayed to God, hoping that her daughter did not have Battens. It must have been very difficult to wait a month for the results of the testing. This was perhaps, one of the longest months of Morgan’s life but the time would arrive. It was in March of 2018 that the results of the genetic testing would come in. They would be made available to Raelynn’s neurologist at the outpatient clinic in Rockville and that is where Morgan would learn about the findings. Her worst fear would be confirmed as she would be told that little Raelynn did, in fact, have Battens. The genetic testing revealed that she had the CLN2 variant of Late Infantile Batten Disease. Morgan’s response to the news was understandable. She was shaken in a way that was beyond any other that had been experienced. Morgan described her response with the following words, “One nurse held me while I fell to the floor crying for almost two hours. When I was told Raelynn had Batten disease my heart felt like it was no longer in my chest. I felt an overwhelming empty feeling in my chest. It was sincere heartbreak. I cried every day for Months.”
Like with most everyone, Morgan was previously unaware of the existence of Batten Disease. All of a sudden, she was beginning a journey with Raelynn and her close family. A journey that she knew nothing about. Could you imagine what it would be like to receive the news that your child has Batten Disease? All of a sudden, there is this feeling of isolation and, at first, you don’t know where to turn. Perhaps you were told about BDSRA by a medical professional, but maybe not. Then, it is just a matter of time that you discover the very community that you are now a part of. Once you do, you gain the realization that you are no longer alone. There are people out there that know exactly what you are thinking and also what your feelings are. They not only know that, but they know what you will go through and what the challenges are that you will face. People in the Batten community are able to support each other in a way that those of us on the outside can’t because of a shared experience and a common level of understanding. These are all of the things that Morgan would find as she took her first steps in her journey with beautiful Raelynn. What is most valued by a new Batten mommy is the other Batten mommas and who could not understand that? Morgan would tell us this much with the following comment, “The support from other Batten mommas is what keeps me going half of the time. When it comes to the Batten community, when Raelynn first got diagnosed, I did not know where to turn to for answers until I found the BDSRA moms page.” The first person that would reach out to Morgan on that page would be a lady named Jennifer Medley. Jennifer was a mom to a most handsome son named Jake and he had previously been diagnosed with the same variant of Batten Disease as Raelynn. Jake would lose his battle with Battens at the age of nine. That was in 2014, after a very difficult and valiant battle with the disease. Jennifer would be available to Morgan to answer all of her questions because she chose to be there for others who might need her help. Any person who has battled, alongside of their child, remains part of the Batten community for life. They have been through the experience and the experience that is gained is valued by those who find themselves in the midst of the battle.
Morgan would find many others along the way and she would begin to form relationships that will last a lifetime. Along with people inside the Batten community, relationships are formed with people in the research and medical community. Especially those who are part of the battle against Batten Disease. Morgan would continue to ask God why He would allow her most innocent little daughter to go through this disease but she would soon receive some encouraging news. This would come from within the medical community a few months after Raelynn’s diagnosis. This, while they were at her Neurology appointment. It was at that appointment that Morgan would learn about a form of therapy that involved replacing an enzyme that was missing in Raelynn’s brain. This missing enzyme was responsible for cleaning out wastes in the brain cells and that was the source of the problem. A drug named Brineura was available and this would give Morgan some relief with the hope that it would work for Raelynn. It was a few weeks later that Morgan would receive a call from a Pharmaceutical company named BioMarin. They wanted Morgan and Raelynn to be seen by Dr. Andrea Gropman at Children’s National. Doctor Gropman is the Division Chief of Neurodevelopmental Disabilities and Neurogenetics at that hospital in Washington, DC. They all met together and it was determined that little Raelynn was a match for Brineura. Real hope for helping Morgan’s sweet girl now existed. This would all continue to develop as a date for beginning the treatment was set up at Children’s National.
Raelynn had been diagnosed in March and there would be an opportunity for Morgan and Raelynn that would take place in July of 2018. This, before the treatment started. Thanks to the support that was given by Tracy Kirby of the Batten Disease Support and Research Association (BDSRA), they would both be able to attend their first Batten conference together. Anyone that attends one of these conferences will tell you that the first one is overwhelming. There is so much going on and so many people in attendance. It is sensory overload! More than anything, there are the children and teenagers that you see and meet while you are there. So many young warriors in one place. It just does something to you to witness it for the first time. Everyone has their own way of responding and Morgan describes her reactions as she walked in the door for the first time, “When I first arrived at the conference, I was very overwhelmed by seeing the different types of Batten Disease. My first instinct was to turn around and run out the door. Instead I immediately started crying. I tried to hold back my tears but they came flowing out.”
I have heard similar comments before and I can certainly understand after witnessing it for the first time last year. This, although I could not have experienced it with the depth of feeling that a new Batten parent would. This was Morgan’s first in person encounter with the community that she was now a part of. She continued to share her feelings with the following comment, “I have never cried so much in my life as when we were down there (in Nashville). Meeting all of those families was so good for me to cope with Raelynn being diagnosed. The hardest part for me was seeing families there without their children because they had passed away.” Morgan recalls that she was assigned to the McCorkles as her buddy family because their son Micah has the same variant of Batten Disease as Raelynn. Misty McCorkle was extremely nice to Morgan, giving her guidance in finding her way around. She also provided Morgan a shoulder to cry on during the family buddy meeting. Misty was, of course, very qualified for this assignment. Another person that was a huge help to Morgan while at the conference was Hollie Beish whose son is little Conner of the Fighting For Conner Facebook page. Handsome Conner has the same Variant (CLN2) as Raelynn and he had been receiving the therapy that Raelynn was soon to begin. Not only this, but he had been receiving it where Raelynn was going to be treated. That is at Children’s National hospital. The staff at Children’s National had actually been trained to treat Conner as Hollie had previously been taking Conner all the way to Ohio every two weeks for his treatments. Raelynn would soon be the third child to get treated in the DC area, and so in that way, Conner paved the way for Miss Raelynn! Both Raelynn and Conner would soon end up receiving their enzyme replacement treatments on the same day of the week, every two weeks.
Morgan made mention of one other family and that is the Riddle family. She told me that Miss Raelynn would meet little Tayla Riddle and she described the scene that sounds so adorable with the following, “Raelynn really hit it off with Tayla when they had first seen each other. They were both in their strollers and they were reaching out for each other. It was the cutest thing to me. Then, they started having their own little Batten conversation, yelling back and forth and squealing at each other. Later on that evening, they ended up getting in the hot tub together.” These families always carry with them the experience of attending their first conference. It is one that is never forgotten. Morgan would echo this sentiment with the following words, “It was a great experience and really helped me cope. It showed me that I was not alone in dealing with this scary disease. There are other moms that I can reach out to at any time.” And still, as would be expected, the entire experience was a bit overwhelming. That time with her Batten family will always be dear to her. She had to have felt the assurance that she was no longer alone in the struggle that she was facing with Raelynn.
The trip to the conference had been an experience that brought with it a mixture of feelings and still there was anticipation for what lay ahead. Morgan had no idea what would take place in her life at the time that she had held Raelynn in her arms at the time of her birth. So many things had changed. So many things that had taken place. All of this, beyond what any parent would have expected. Raelynn would begin receiving the enzyme replacement therapy on August the 23rd of 2018. With that event brought the hope that the Brineura would make a real difference in Raelynn’s battle with Batten Disease. She has now received over twenty treatments and I think that it is safe to say that the disease’ progression has been slowed down. Hopefully, Morgan will see some small gains as others sometime see in their children. Raelynn is so loved by all who know her and it is so easy to see why that would be the case. Her huge smile is infectious and Someone like Raelynn is the type that will melt you on the inside. I am sure that was the case for those who came in contact with her during her Make-A-Wish trip. Children should not have to fight this kind of a battle but it is nice to acknowledge them when they do!
Adventure and the Journey
When it came time to make a wish, Raelynn chose Disney World in Orlando, Florida. Morgan told me that this is because her little princess is a huge fan of the Disney Princesses. She is such a fan that dressing like a princess is what she chooses on Halloween. They would make their way to Florida and would be there from the 13th to the 19th of October in 2018. They had an amazing time with all of the expenses being paid and staying at Give Kids The World Village. Food and everything was taken care of. Toys were even provided for Raelynn. Make-A-Wish is an amazing foundation and I am so happy that they exist for kids like Raelynn. She visited the Animal Kingdom and loved going on Safari rides. There were many other rides that Morgan and Raelynn went on but her favorite one was the Little Mermaid. Raelynn was kept busy with lots of activities. She loved seeing all of the Disney characters and was even tucked in by a different one every night! I find that for them to go that length for Raelynn to be so very special. The Disney parade was magical to Raelynn. She was greeted with hugs and handshakes by many of the Disney characters as they passed by. Raelynn was invited to a princess tea party at a very fancy hotel at Disney and she was gifted with a princess doll that she still has. They also went to a pirate and princess pool party, but that is not all. In addition to time spent at Disney, Morgan and Raelynn also visited Universal Studios and SeaWorld. Wow! The last day was spent unwinding at the beach. Raelynn loves playing in sand and going in the water. Fortunately, there is an abundance of both of those in Florida. The entire experience was incredibly fun for both mom and daughter and it provided them with amazing memories that could never be forgotten.
Raelynn must have felt so special as she returned from the trip and that is in fact, how she should feel. She is such an amazing little person. That is easy to see, even from the opposite side of the country. This little princess was happy but she was failing to thrive as everyone would want. This was due to the fact that she was having issues with eating and keeping weight on her little self. Everyone agreed that a feeding tube was needed and having that done was the next event in Raelynn’s journey. She would undergo the procedure in January and I can remember Morgan’s concern about seeing her little girl having another surgery. Thankfully, Raelynn did very well with it. Morgan says that her princess has started to gain weight and she is much happier now. Who wouldn’t be? We all need our nutrition. Whatever Raelynn needs, Morgan will do her best to get it done for her little warrior. This because her love for her daughter has no conditions. It is unbridled and without limit. The love that exists between these young warriors and those who care for them is something that I also love to highlight. It is always the type of love that is undying and the bond that it creates is the most amazing. Morgan said that she would travel anywhere in the world for her daughter to receive the Brineura treatments. It would be impossible for Morgan to not love someone like Raelynn just that much! This kind of extreme sentiment is shared by most any parent that has a Batten warrior in their midst.
Raelynn has a younger sister who is almost one and a half years old. Her name is Aubree and as you might guess, her and Raelynn are very close. Morgan told me that both her girls have in common the same type of personality. Aubree is full of charm and her little self is very outgoing. She runs up to friends and neighbors when she is outside and gives them a very enthusiastic greeting. This is how Morgan put it to me, “She is no where near shy. If she’s sees people out, she runs up and yells hiiiiii. It’s the cutest.” The bond between Raelynn and Aubree was almost instantaneous and I know that it grows by the day. They have so many likes and things in common but one thing that they do not have in common is Batten Disease. That is a good thing. It will be wonderful for Raelynn to have Aubree by her side as she continues to battle.
It is hard to believe that Morgan is facing these challenges at such a young age. She is being asked to warrior on along with little Raelynn and she feels that Batten Disease has turned her whole life upside down. Kids in general change our lives in a dramatic way but the challenges that she faces are beyond anything that she could have expected. Everything is now about Raelynn and her needs. That is where a person’s focus should be when we are talking about someone like Raelynn. Mentally and emotionally, Morgan is being stretched. She sacrifices because she is not able to work and she has given up an active social life. Fortunately, her mom helps her with that as she watches the grandkids on occasion so that Morgan can get out with a friend or two. Morgan describes what her life is currently like by sharing the following, “My life is crazy now from going back and forth to doctors appts 24/7, to making sure all meds and feedings are on schedule. I feel like a nurse most of the time. Being a Batten mom is very overwhelming to me especially since I am only 25 years old. I had never dreamed of being a special needs parent.” And then there is little Aubree. She is adorable, is she not? Morgan says that she feels guilty because of the fact that Raelynn requires so much attention. She worries that Aubree will eventually feel left out. I just bet that Aubree will grow to understand and I know that she will continue to be the best little sister ever! Even with all of what is going on, Morgan would not change anything about her current situation. Here is more of what she told me, “I would not change being a stay at home mom for anything in the world though. I love that I get to stay home with Raelynn and spend lots of time with her and make memories.”
There are challenges that lay in wait as Raelynn continues to battle. We need a cure for CLN2 and all of the variants of Batten Disease. I am glad that the treatment is available for these kids as CLN2, Late Infantile, is one of the most common forms of Battens. Batten parents are quick to learn everything that they can about the disease and Morgan is aware of the course the disease will take. She knows that there will be heartache and she says as much with the following, “The challenges that she (Raelynn) faces are heartbreaking for me. My biggest fear is about when she will lose her eyesight. It breaks my heart that she will have to deal with all that this disease brings. I can honestly say that I am not ready for the even worse challenges she will have to deal with, but she will not face them alone.” No, Raelynn will not go through this alone and neither will Morgan. There is an entire community, In addition to her own family, that loves her and Raelynn. Morgan says that through all of that which has happened with Raelynn, her princess has remained happy. More times than not, that is what we see in these children and young people. They are so resilient and that is a big part of the charm that they posses. Is it them or is it us? It’s them! Raelynn is amazing. This is a little more of what Morgan had to say about her, “Her smile can light up a room and she is always laughing and making others laugh around her. She could make anyone fall in love with her.”
Morgan dreamed of having a family and a stable home life with a man that she loves. She said as much with the following words, “I had always dreamed that Raelynn's father and I would stay together and get married and end up having more children together. That's always been the dream. Find someone, get married and have babies. That dream still exists.” Morgan’s plans have been interrupted by Batten Disease although something tells me that this will still happen for her. It will just take the right kind of man. One who is worthy of her and one who loves her and her two daughters unconditionally. A man who is ready to step up and help as the journey continues. How could you not love someone like Raelynn? What is this experience doing for Morgan? There certainly will be future heartbreak but what else is there in life that she won’t be able to handle as a result of this experience. She will grow as a person. There could be great things in store for her. This, as her own experience impacts the lives of others. She will be special. In fact, she already is. She’s a Batten mommy!
These kids, and others that are like them, are just the most amazing. People need to know who they are and I have taken it upon myself to help in that cause. This is what I spend my time doing and making people aware has become the reason this blog exists. Raelynn is beautiful and I am grateful to have been given the opportunity to write about her and Morgan. Such a privilege. Thanks for taking the time to read about Morgan and Raelynn!
Blogger and Advocate
“After the word TERMINAL was spoken, Jac and I heard nothing else. I
felt my heart stop! I thought there was no greater pain than what I felt when I lost my dad, but I would be so very wrong.”
~Jennifer Whitfield Vaughn~
There is a theme that I have used in the past that I wanted to make mention of here. It had to do with tragedy and the things that can come out of a tragic occurrence. Make no mistake, a disease like Battens is a tragedy and it brings with it tragic circumstances. Nobody wants or expects tragic things to take place in their life, but how we perform during those times, and some of the positives that come out of tragic times, are worth noting. The following are some that I have noticed. We often work together better in these times as we cooperate with each other more fully. We care more for one another. The things that divide often do not matter anymore. We love more deeply and even forgive others as a result of what we are going through. Strong bonds that last a lifetime can be created in times of tragedy. Although I know that we would rather gain personally from other types of circumstances, those are some of the positive byproducts that can result from a time of tragedy.
Batten Disease is just wretched. It is the type of illness that should be left for people like myself who have lived the majority of their lives. Even more so, it is something that nobody should have to endure, let alone, children. My biggest reason for continuing to write is to honor those who battle Batten Disease. I also do what I do in order to help spread awareness. Batten Disease is only one of the thousands of rare diseases that affect children. I am only able to do my own part and working in the Batten community is the part I have chosen. I run on passion and passion is what drives me to write these stories. These children are just so special. They are some of the most amazing little warriors on the planet, and their presence on this earth is something that needs to be noticed. I have heard some say that the Batten journey can be a lonely existence at times. My point of view is that it should not be. More people need to know, and more effort towards families like those who battle Battens needs to be given. These children are priceless.
How do the feelings that we have for Batten children come about? 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 a piece of your heart to these kids and their families, they come close to taking all of it! I know that I am far from alone in feeling this way. I always appreciate receiving comments from others when they help me to explain the thoughts that I am trying to convey. I found a little help this time from a person who had been intimately involved with the life of a Batten warrior. She is a home healthcare nurse who once cared for a Batten Prince named Rex and her name is Tina Emery. Let’s see what she had to say out of her own experience with Rex as we read the following, “As a pediatric nurse and a mother of three, I've cared for children with a wide variety of illnesses. I truly do care about all of ‘my kids’, but caring for a Battens child and spending time with his family has confirmed my belief that there are angels among us. I feel blessed and honored to have witnessed such selfless and unconditional love up-close and personally. I have been forever changed by watching them focus on the smiles and joy rather than the fear and devastation that comes with this diagnosis. Anyone outside of this circle would likely not understand that these words are truly heartfelt and honest. It always stuns me that the Batten children are ALWAYS beautiful and glowing with such light and love reflected in their faces!! I seriously have a soft spot in my heart for every single Batten child. Rex, our very special angel, taught me a new kind of pure love.” I appreciate Tina sharing her insight with all of us and her words are just amazing.
How Her Little Story Begins
Our next story is about a family that has grown together through facing difficult circumstances. They are a family that we might refer to as being of the blended variety, and their bonds have been created, in large part, through a rare set of circumstances. This is a story about love and forgiveness for sure. Most of what takes place is due to the life a most adorable little girl who is unaware of the impact that she has had on her family. This is her little story which is not really little at all. Is it true that you don’t have to be big in stature to make a difference in people's lives? The answer to this is apparently, yes, as that is what this little story will show us. Just like in most every case, these stories begin with a couple that want to have a family. That was the case with Jay Mayo and Jacqueline Vaughn.
They had been trying to have a child for years but they were not having any success. This would change as Jacqueline had become pregnant. This had happened once before but the pregnancy had ended with a miscarriage. That would not happen this time as the couple’s future bundle would hang in there for close to full term. They were so happy to be having a baby. Jac, as she is called by friends and family, had certain things that she wanted in a baby, and one big thing is that the baby had blue eyes. Everyone told her that would not happen but Jac felt that it was, in fact, possible. As the time was approaching for Jacqueline to give birth, she began to have issues with high blood pressure. The doctors were concerned about this and so they decided that inducing labor was necessary. It was February the 12th of 2016 that the day would arrive. Jacqueline was given the medication needed in order to induce labor, however, the drug did not work. As a result, it was decided that this baby needed to make its entrance by cesarean section.
Jayline Lee Mayo, as she was named by her parents, would make her appearance at 5:38 pm. Everyone who would cast their eyes on her would see the very same thing. Little Jayline was perfect and Jacqueline had a perfect little girl. In fact, Jayline was everything that she had ever wanted in a baby. She even had the blue eyes that most people thought were impossible for her to have. This little girl was so healthy. Jayline passed all of her initial testing and it seemed that nothing would hold her back. She had all of her fingers and toes and she was, oh so adorable. Close by at the time of Jayline’s birth was Jacqueline's mom whose name is Jennifer Vaughn. Jennifer shared her thoughts concerning what she had seen as she looked at her daughter holding her new grandchild, “When I first laid eyes on Cheeks (Jayline’s little nickname) I was in love. Her perfect little head, petit little features, brought me back to when Jac was born, which I too, struggled for years to get pregnant. Jayline absolutely took my breath away. When I watched Jac hold her for the first time, with tears in her eyes, I knew she was now complete. She finally had the one thing she had dreamed about for years.”
It would not be long after Jayline’s birth that her and Jacqueline would receive a visit from Jayline’s grandfather Bill. With him, was his current wife Tammy. Bill and Tammy would meet, and then marry in 2004, after things failed to work out between Bill and Jennifer. Tammy was ecstatic to know that there was a new grandchild in the family, and especially that the baby was a little girl. They had a granddaughter, and any female in the house would be happy that this had taken place. Especially after seeing little Cheeks (Jayline) for the first time. When it comes to the details of a divorce, I most often try to avoid anything that would create controversy. After all, these stories are about children with Batten Disease. Why get caught up in the affairs of us big people? Well you see, the little girl that this story revolves around would be responsible for bringing about healing in people’s lives. Divorce often leaves people wounded to a certain degree and that was the case in this family. Jayline would have an immediate effect on people as individuals at the beginning, and her impact on the entire family as a group would develop as the circumstances of her own life would change.
It would make sense that I mention Jayline’s grandparents as being part of her story. This because they would have a profound impact on her little life. That part of the story would begin with the marriage of Bill and Jennifer who both are Jayline’s natural grandparents. Bill Vaughn had been a career Navy enlisted man when he met Jennifer. They were married ten years before Bill had retired. I am making mention of Bill’s military service because for me it makes sense to honor him for all that he accomplished while in the Navy. Bill reached the rank of Master Chief Petty Officer (E-9) and, he was a Command Master Chief in the last assignment of his 28 year career. You do not go any further as an enlisted man in the service. Both this writer and his wife also served in the United States Navy, but both only for one enlistment. Bill achieved much while serving and in fact, more than I was allowed to mention. This writer did not achieve much while serving. I do, however, owe everything that I have accomplished in my occupation to first serving in the Navy. And so for these reasons, I really appreciate Bill’s service to this country.
It goes without saying that divorce brings hardship and hurt feelings along with the separation of two people. The subject brings with it all kinds of negative connotations and we hate to see it happen. The fact is though that it does happen at times and life has to go on when it does. Most of the time, there will be hard feelings between the former spouses although, time may help cure that. It often doesn’t though. Sometimes, people stay at complete enmity for life. You wouldn’t expect there to be a lot of love involved between an old spouse and a new one. For example, between a former wife and a current wife to the same man. Being cordial towards one another is the best that you could hope for. Animosity could be involved. There may even be anger and resentment among children when they are old enough to understand what has taken place. The list of possible effects of a divorce could be greater than those I have listed but this will suffice. After all, this story is about little Jayline. As mentioned above, Bill would remarry and that would bring Tammy into the picture as Jacqueline’s step mom, and also as one of Jayline’s grandmothers. I am sure that some of the negatives that I mentioned above were present in certain relationships within the family at the time of Jayline’s birth. All of this provides some background as we move into Jayline’s little story.
Jennifer would not be alone in her love for Jayline. The fact is though, that her love for Jayline was strong from the very beginning. Her daughter now had a daughter of her own and Jacqueline’s experience reminded Jennifer of her own as she gave birth to Jac. The bond between Jennifer and Jacqueline would only be strengthened by sharing the event with each other. Jennifer would think back to her days of raising Jacqueline as she observed her own daughter caring for Jayline. She recalled that Jacqueline would grow up to be very kind to others, and also that she would grow to be very athletic. Jennifer has two daughters and Jac’s sister is named Elizabeth. Jennifer felt that Jacqueline was a role model for others to follow. For example, they had a neighbor who had special needs and Jennifer recalled that Jac did an excellent job with handling that special person. This, when others found it difficult to do so. Jacqueline now had the possibility of watching her own daughter experience much of the same types of things that she did growing up. This, must have brought a lot of joy to Jennifer as she anticipated what the future might hold.
It would make sense that Jacqueline would want the very best for little Jayline and, although sometimes necessary, she preferred not to drop her new baby off in daycare every day as she had to work. This led her to ask Jennifer to move in with them. Jennifer remarked that she would not hesitate to take Jac up on her offer. Her things were soon packed and put in storage as she made the move. Little Jayline was only about five weeks old when Jennifer would begin helping with her care. Ironically, Jac would begin working as a supervisor for a daycare. It was very fortunate that she was provided a large apartment that was located directly above the daycare, and this is where Jayline would continue to grow in the presence of those who loved her. The bond between Jennifer and Jayline would continue to grow as little Cheeks went everywhere with grandmother. Along the way, Jacqueline decided on a career in nursing. In addition to her full time work in the daycare, she also attended nursing school full-time. This made Jennifer’s help invaluable. According to Jacqueline, Jayline was a pretty easy going baby and I am sure that helped. Jayline very quickly had the affection of Bill, Tammy, Jennifer, and everyone in the family. It is easy to see how that would be possible. Tammy had brought two children into her marriage with Bill. A daughter name Britani and her son Travis. This again, was a blended family that was still in the process of getting along with one another. Jayline would do much to help in causing things to progress in this area.
I am sure that for Jac, this all had to be a case of sensory overload. She was a new mom in a new place. She had a new job and at the same time, she was attending school three nights a week in an eighteen month program in order to become a nurse. Life was at full capacity for her at this point and her mom was there to help. Stating the fact that Jennifer adores Jayline would be an understatement. Much of her heart would be consumed by this little girl, and who could not understand that to be the case? After all, their days together would serve to strengthen the bond between them. Jacqueline, and everyone for that matter, observed that Jayline developed a love for the Mickey Mouse Club cartoons. She absolutely loved Mickey! Jac stated that Jayline was addicted to television as a baby, and that she would raise a fuss if you were to change the channel off of the Mickey Mouse Club. Tammy would put it as being at the level of obsession, and everyone would agree. Jennifer was suspecting that Jayline may have autism as early as age five months. The other thing was water. Jayline loved water. Jennifer said that water was a cure for Jayline if she was cranky or upset over something. You could put her in the tub if she was upset and that would fix things. Jayline loved to splash and she would sometimes get so tickled over it that it would cause her to fall over. Fortunately, Jennifer would be there to catch her when she did. Anytime they were near a pool Jayline, of course, wanted to be in the water. Her mom had bought her all kinds of water toys and things to help keep her safe. She would often times spend the day at Bill and Tammy’s house in the pool with her little cousin Nolan. Many precious memories were being formed.
And still, As Jayline’s development continued, those who were close to her were noticing things that were a little different. Jacqueline stated that Jayline would not explore and get into things like other children would. Less obvious was that Jayline wasn’t the best at making eye contact with people. Tammy commented, with the following, about what they were all seeing as Jayline continued to grow, “Shortly before Jayline turned one we were questioning her ability to maintain eye contact. It appeared when you called her name or tried to make eye contact with her. She would never look at you. Within a couple of months her lack of ability to pick up things, such as toys to play with, was noticed. Along with that was the fact that she never stopped to pick up little things off the floor to put in her mouth like every other baby her age. It was at that point we decided something more was going on.” The family had sister Elizabeth’s son Nolan to compare his development with that of Jayline’s. He was six months older and he and Jayline were the best little buddies. This was sweet but would also leave some people concerned with the differences that were noted.
Jayline was perhaps a little bit slower than most kids in learning to walk. Jennifer stated that she was fifteen months old before she was able to take several steps. This before she would fall, only to get back up again. She tried so hard and was so proud of herself with each success. Her gait was a little different too, as her walking resembled that of a duck instead of a toddler. People would also make note of the fact that Jayline wasn’t too interested in toys, and when she was, they were very specific ones. All of this caused Jacqueline to have her daughter evaluated by Florida’s Early Steps program. Jayline was a little over a year old when she would be evaluated and was approved to receive therapy. After working with Cheeks (Jayline) for a while it was felt that she may have something called Rett Syndrome. Much of what they were seeing would be indicative of the disorder. That was not all that the family had to contend with. It was in March of 2017 that Jayline became very ill. She had a bacterial infection in her blood that is normally only seen in the bones. Jayline would be treated successfully with antibiotics but what a scare for this family. It had to very concerning to everyone at this point that this little blue eyed darling of a girl had so much going on.
During the summer of 2017 that Jennifer would make the difficult decision to go to North Georgia, where her parents lived. There was no way that she wanted to leave Jayline and Jacqueline, but her father was very ill as he was suffering from heart failure. As a result, Jacqueline would ask if her dad and Tammy would step in and help with the care of Jayline so that she could continue to keep up with things. Jac was able to take Jayline with her to the daycare during the day, but she needed help when she attended her classes at night. Bill and Tammy would watch Jayline three nights a week while Jac continued her training. They would also watch her occasionally on the weekend upon request. Tammy loved the time that she had with Jayline as she was a perfect little person to be around. The bond between Tammy and Jacqueline would also grow at this time and who could not understand how it would? Bill and Tammy were there for Jac and Jayline when Jennifer had to be away.
It was in July of 2017 that doctors at Nemours Children’s Hospital decided to do some testing on Jayline. They wanted to do an MRI of her brain as, according to Tammy, Jayline was beginning to struggle with some of her motor skills. Jayline had learned to walk, but she did so on her tippy toes and she was falling frequently. Tammy would go on to say that the MRI would reveal some demyelination (damage to the protective covering that surrounds nerve fibers) in Jayline’s brain and they mentioned the possibility of Rett Syndrome. They recommended that Jac follow up with a geneticist but they did not have one on staff. Jacqueline would take the reins on this and called the University of Florida in Gainesville to see a geneticist that was on staff. Much to everyone's disappointment, the waiting list was huge and they were not even accepting new names at that time.
Jac would call her mom and tell her, for example, that Jayline’s eating habits were changing and that she was no longer able to feed herself. It was also in the summer of the same year that Jay and Jac had brought Jayline up to North Georgia for some time with Jennifer. This, after she had been away for two months. Her heart was broken by what she had seen after looking at how Jayline had changed. Little Jayline had digressed in her abilities and it was very noticeable. It would be in October that Jennifer would return home, telling her father that she would come back to Georgia soon. As all of this was going on, Jacqueline’s training would intensify as she had to do her clinicals for nursing. The hours that she spent at school would increase as they began to include long hours on weekends. I am certain that Jacqueline was so thankful to have the help from Tammy and her father during this time. As for Bill and Tammy, they loved the time that they had with little Jayline.
Searching For Help
Meanwhile, Tammy had been calling around to see if she could find a geneticist who could see little Jayline. She would find one at Arnold Palmer Hospital in Orlando, however, little Cheeks could not be seen until January of 2018. How discouraging! In the meantime, Jennifer had returned to Florida as Jayline’s condition had become more alarming. She would, however, soon have to return to Georgia. It was on the last day of November in 2017 that Jennifer had received word that her father was not doing well and so she left the next morning. How difficult all of this must have been to take as things were happening all at once. Her father, who was Jennifer’s best friend, would pass as she arrived. She would spend a week with her mom and then return home to Florida because of all that was going on with Jayline. Her condition had become more and more alarming. Jayline had been hospitalized a couple of times and had completely lost her ability to walk. How frightening!
It had to have been so difficult to see the changes that were taking place in this most darling little girl. All of it being compounded by the loss of Jennifer’s dad. It would be the very next day after Jennifer returned that they rushed Jayline to the hospital. Jacqueline felt that Jayline was not getting enough to eat and she would be admitted to have a feeding tube put in place. Due to complications with the tube feedings, they would spend most of December in the hospital with Jayline. While there, the staff would perform another MRI. The results of the test would be compared to the MRI that was done in July. Although the doctors did not see major changes, they were nonetheless, very concerned. During the time that all of this was taking place, a process of healing would begin to occur. Bill and Tammy had been coming to the hospital to visit every couple of days while Jayline was hospitalized and, of course, Jac and Jennifer were there. Initially, Jennifer would leave the room when Bill and Tammy were present but soon, Tammy would insist that this was not necessary. So much time had passed since the divorce had occurred. In fact, for the good of Jayline, Tammy felt that they needed to remain together. Something that I alluded to earlier was the fact that the divorce between Bill and Jennifer was not a friendly one. There was anger and resentment involved and time had not yet completely healed old wounds. This would result in awkward situations when all of the parties that were involved found themselves together.
When it comes to divorce, the circumstances can sometimes leave children angry as well. This, even if the feelings of resentment were not as severe as with the adults. Some of that had occured here with this family. It is possible that awkward feelings may have existed between children and stepchildren as well. This can happen when divorce is followed by remarriage. I know that you get the idea. There were obstacles that needed to be overcome for the good of little Jayline. Gradually, things would begin to change and it would all be, in large part, because of this little girl that everyone adored. These kids have the power to change people. It would be at the end of 2017 that Jacqueline would complete her training to become an LPN. She had succeeded even with all that was taking place with her daughter. Jennifer and Jac would be at the hospital with Jayline non-stop (Jac, for every minute she was able to be there). Tammy, out of pure kindness and concern, would offer to bring clean clothes and food to Jac and Jennifer when she was there. It was because of things like this and the circumstances faced with Jayline that the bonding process would begin with Tammy and Jennifer. Together, they would end up facing the realization that something very wrong was happening with Jayline. Both would become a tremendous means of support for Jayline’s mom, as well as, for each other. Soon, there would be no division between the two families and they would all be as one.
Reason To Heal
It seems so cruel when bad things happen during the holiday season but it is a fact that they sometimes do. It is always harder when trouble comes on the holidays and we don’t want holiday memories to include those of loss or trauma. The family had fixed up Jayline’s room at the hospital with decorations and lights and they tried to make things as festive as possible. It was the Christmas season but life did not stop for the holidays. It would be after the second MRI was performed that the doctors suggested that what was going on with Jayline was life threatening and the word “terminal” was used. They felt that it was something very serious. The doctors felt that Jayline may have a lysosomal storage disorder and they mentioned two diseases. One was Batten Disease and the other is Leukodystrophy. Rett Syndrome would soon be ruled out as a possibilty. They had not seen a lot of changes from one MRI to the other but they were pointing to the fact that Jayline had lost so many of her motor skills, and she was no longer thriving as a little girl should be.
Much of what the doctors told Jac and Jennifer was lost after the word terminal was used. Jennifer’s response to what was said by the doctors at this time was used at the beginning of this story and it is worth repeating here, “After the word TERMINAL was spoken Jac and I heard nothing else. I felt my heart stop! I thought there was no greater pain than what I felt when I lost my dad but I would be so very wrong.” The findings still needed to be verified concerning little Cheeks and her condition, but whatever was going on was very serious. There is no doubt that Tammy shared the same love for Jayline and Jac that was felt by Jennifer and the entire family. She was at home when she received a call from Jacqueline concerning what they had heard from the doctors. Here is what Tammy had to say about the call, “I will never forget that phone call from Jacqueline to me that day. She was crying almost uncontrollably and I could feel her broken heart as only a mother could when you cannot fix something for your children.”
During that call, Tammy tried to calm Jacqueline. She did so by assuring her that they would do everything that was humanly possible to help her battle what was plaguing little Jayline. Tammy and Bill would make the trip to the hospital, and it was on that drive that Tammy thought about the fact that Jennifer would be present. Together, her and Bill would have to face Jennifer for the first time since the divorce which had taken place back in 2004. As they arrived at the hospital, Jacqueline said that she would have her mother go downstairs while Bill and Tammy visited. To this, Tammy would insist that it would not be necessary to do that. She felt that as adults, they all needed to come together for Jayline, and that is what would soon happen. It was that day that the healing would really begin. More than just that, two families would begin to blend into one. The tragic circumstances that were faced by a little girl would bring about something that was very positive and life changing. This, even though she was completely unaware of how her little life was impacting those around her.
Soon, the family present would be joined by others. This included Jacqueline’s sister Elizabeth, stepsister Britani, and stepbrother Travis. Also visiting was Jacqueline’s best friend Jennie! Both Jac and Jayline felt loved but in the back of everyone’s mind, was the plight of this most adorable little girl with the huge blue eyes. Tammy had described to me the losses that had been experienced by both families in the years 2016 and 2017. These were in addition to the loss of Jennifer’s father. They would include Tammy’s mother, stepfather, and stepbrother, all to different forms of cancer. She would also lose her biological father in that timeframe. Of everything that had been experienced by these families, what they were facing with Jayline was the most difficult to understand. She was just a little girl who has her entire life in front of her. Add to this the fact that she had grown to be everyone’s little princess. The whole thing just made no sense.
The doctors in Orlando did not have a lot of information beyond what they had told the family already and they urged them to seek the help of Children’s Hospital of Philadelphia. They felt that the doctors at that hospital had the experience to be able to help. Tammy would fill out the online questionnaire immediately upon returning home and she also started doing research. The hospital would reach out to Jacqueline and they would set up an appointment for early March of 2018. As a result, the family decided to do some fundraising to help with the expense of the trip. Jennifer, Tammy, and Jacqueline would make the trip together with little Jayline but that would not happen for two months. Those were two very long months for this family to have to wait. In the meantime, they kept an appointment that had been made with a geneticist in Orlando. Once there, the doctor would only do a limited amount of testing because she didn’t want to jeopardize Jayline being accepted at the children’s hospital in Philadelphia. One thing that was concluded is that Rett Syndrome was officially ruled out as a possible diagnosis.
Jac’s Persistence and The News
The rest of life was not stopping as a result of what they were facing with Jayline and Jacqueline was encouraged to go through with her State Board exams to become a Licensed Practical Nurse. She took and passed them and she would also find employment with the County Sheriff's Office as a nurse. This was all, highly commendable with all that was taking place around her at the time. The family would also celebrate Jayline’s second Birthday in early February of 2018 as the time for the appointment was approaching. The time would then come for the three day trip out of state to Children’s Hospital of Philadelphia. This would be a long trip but it was necessary in order to find an answer as to what was going on with Jayline. Once there, doctors would perform the necessary genetic testing. They shared the fact that getting the results of the tests could take three months, or longer. This would, no doubt, seem like an eternity. They did meet with the Leukodystrophy team while there and they didn’t believe that to be Jayline’s Diagnosis. They did believe that she had something that mimicked the symptoms of one form of that disease. According to Jennifer, the team of doctors felt that what Jayline had wasn’t terminal and she would most likely receive back some of the motor skills that she had lost. The genetic testing would reveal the answer, but at the time, they would leave with a little bit of hope. As this was all taking place, Jennifer and Tammy were continuing to bond because of their shared involvement with Jayline and Jacqueline. This was, of course, a very good thing. Jayline needed this and it was good for everyone. It was the end of May that the results of the testing would be in. It would actually only take a total of two months before the findings were available.
Children’s Hospital of Philadelphia again reached out to Jacqueline as they wanted to know if the family would be willing to return to the area to review the findings. To this they, of course, said yes. It was the first week of June 2018 that they would leave to go back. I am sure that their feelings were mixed as Jac, Jennifer, and Tammy made their way back to Philadelphia. It was such a long way to travel, but they would have done anything to know what was taking place with Jayline. Going there in person would hopefully insure that they received the best, and most, information available. They again arrived safely, and as they waited in the the exam room, the family was approached by an entire team of professionals. One of which included a family counselor. The feeling at that point was not a good one. The news that was received was that little Jayline, the family princess, had CLN1, Infantile Batten Disease. That was the only thing that could have been worse than the diagnosis of Leukodystrophy. Jennifer described the response of both her and Jacqueline as they received the news, “As soon as the word “terminal” came out, Jac got up and left the room. Again, my heart stopped for not only Cheeks, but for my daughter. I’ve always been able to make things better for her when she was down, but there was nothing I could say or do to stop the pain she was feeling. I just kept thinking, how could God do this to her and my Cheeks.”
No Child Should
Jennifer’s response was completely understandable. No matter what the diagnosis is, it is tragic when the word terminal is used to describe the outcome. This is what every parent and grandparent of a child that has Batten Disease will hear. Our hearts break just reading the details but that is the reality of what these families face. Jennifer said that Tammy was the only one that was able to ask questions as a brief 45 minute meeting took place. Jennifer stated that it was as if someone had pushed a knife into her heart and it was being twisted with every answer that was given. The team shared some important details with the family and told them about a conference that was taking place in Nashville, Tennessee. It was being held in July, which was the very next month. The three women were just devastated. Who would not be after receiving this kind of news. After this, they quietly returned to the hotel.
The outcome of the search for answers was a tragic one but out of that would come something that was life changing for Tammy and Jennifer. Yes, they were faced with the devastating diagnosis, but something amazing would happen as a result. Jennifer described what happened when they had returned to the hotel with the following words, “I went downstairs to smoke and just broke down in front of the building. I didn’t think I could ever stop, and after about 20 minutes Tammy was there, and we both just cried while holding each other tightly.” Between the two of them, Jennifer and Tammy worked out any feelings of animosity that may have lingered. What had taken place in the divorce had happened many years previously, and there was no reason to hold each other at a distance any longer. Jennifer went on to describe the transformation that had taken place, “It was at this time that I knew this person would forever be a huge part of my life. We bonded like never before at that moment. I no longer felt any resistance to push her away. As Tammy says, we became family, and are referred to as sister wives but with a different meaning.” They were no longer like the current wife doing her best to get along with the ex-wife. The bond that they now shared was like that which existed between sisters, and it was formed due to the tragic circumstances that surrounded this little girl that was loved by all.
Every story that I have done has to pass what I call the “Cry Test”. What I mean by that is that I have to be moved by something that is included in the details that are sent to me by the family I am writing about. Every story has passed this test! I was so moved by what Jennifer shared with me concerning what happened between her and Tammy after they returned to the hotel. This scene, if you will allow me, is what I believe best explains the bond that had formed between these two ladies. In the process of this happening, the two families would form into one. This was all due to the effect that this little girl with the nickname of Cheeks had on all of them. Any differences that may have existed were now set aside and were forgotten.
In Their Presence
As already stated above, Jennifer and Tammy learned of a conference that was taking place in July of 2018. This would be the very next month after Jayline was diagnosed, and that is where me and Jennifer met. I had no idea, at the time, that it had been that soon since they were told that Jayline has Batten Disease. All of a sudden, they found themselves in the presence of a community that they never knew existed until they received the news. The events that led to them being there must have seemed like a whirlwind. Jennifer had told me at the time that Cheeks had impacted the family in an extra big way, but I was unaware of any of the details. She is an amazing little girl who is unaware of how her life has impacted the lives of those around her. Jacqueline was still processing everything that had occured and opted not to attend the conference but she was all for allowing Jayline to go with other family members. Bill and Tammy drove as they had wanted to visit a family member on the way to Nashville. Jennifer felt that it would be impossible to travel alone by plane with Jayline so Elizabeth and her stepsister Britani traveled alongside to help. Both, I am sure, made things much easier, and Jennifer remarked about how helpful Elizabeth was during the conference. Britani was also very helpful, attending information sessions that conflicted with ones attended by the rest of the Vaughn family. It was an emotional time and a little overwhelming to these newly minted members of the Batten community. Jennifer described, with the following, what she had seen and experienced as they got to the conference, “ I won’t lie, when we arrived at the hotel, many of the families and children were in the lobby and I was immediately overwhelmed with grief for all these children. Children that at one time came across as normal kids. Walking, talking, playing sports and driving their parents crazy only to end up losing the abilities to do the things they once loved. I just stood there with tears flowing down my face.”
Jennifer continued to talk about the effect that seeing all of these kids at the conference had on them as a family. In doing so, she would include mentioning a very special young man that they would meet. Here is what she had to say, “I think Bill and I cried the most during this trip, just seeing all these kids that had lost so much, but still seemed so happy and still able to smile. But one young man stole our hearts when he wanted to meet Cheeks. His mom rolled him over to her, and not sure what he was about to do, he reached his hand out and gently held Cheeks hand pulling it towards him to kiss it. He fell in love with her and we did him. This special young man that had stolen our hearts was Jacoby.” While there, everyone gathered as much information as they could about the challenges that lay ahead, and also how to best cope with them. They also learned about a clinical trial for CLN1 Battens that was becoming available the following year. I was there, personally, in order to see for myself what takes place at a conference, and to get to know the people in the Batten community a little better. I found my first time there to be a little overwhelming, and I was just a spectator. I can only imagine what it had to have been like for this family. I am so glad that me and Jennifer were able to meet one another!
Jayline is beautiful and it is very fitting that she was given the nickname of Cheeks. That is one of the first things that you notice when you first see her. The other thing is her deep blue eyes. She is absolutely angelic looking and she steals your heart without even trying to do so. She has affected the lives of her family like no one else could and it is no wonder that she has. Feelings must be a mixture of heartbreak for what you know is taking place in her little body and the profound love that will always be felt for her. She melts you inside even, in my case, from the opposite corner of the country. It is heartbreaking for any parent or grandparent to witness the changes that take place in a child that has Batten Disease. One of the changes that has taken place in Jaylene has to do with her eyesight. Jennifer described what happened and also the heartbreak of knowing what had taken place. This is what she had to say while giving us some context, “She (Jayline) almost always sleeps with me and, after giving her meds to help her sleep, I never had a problem putting her to sleep in bed before I went, but suddenly she would no longer stay in there alone. Not only that but she would have to hold my finger until she fell asleep. If you put her anywhere that was quiet she would cry. We started to believe she had lost her vision and was scared. I mean, anyone would be. What must have been going through her little mind? Was she thinking mommy or nana had turned the lights off and would never turn them back on again? You could see her looking around trying to see something, anything. My heart broke for her. I wanted to give her my eyes. I wanted her to still be able to enjoy her favorite movie that had played for months all day everyday....Moana.”
How terribly upsetting this would be to experience. Not only for the child but also for the family. An immense amount of love, mingled with heartache. What is so amazing with these children is how they respond by adjusting to the new normal that is their life. Laughter can still be heard coming from Jayline as the family does everything that they can to help her to experience the joy of living. Their mission is to help her battle while also helping her to experience life to the fullest. She knows that she is loved because that is, in fact, an understatement. Adored may not even be strong enough of a term. She is loved by everyone that knows her and she is no doubt, smothered with attention. And again, without knowing, she has changed the people around her for the better, even if the change is brought about while experiencing the tragedy that is Batten Disease. This angelic little girl is oh, so special!
It is beautiful to consider the good things that have taken place as a result of Jayline coming to this family. Certainly, this little girl with the very fitting nickname of Cheeks has done much in the short time that she has been on this planet. What about Jacqueline, her mom? This is a young lady that dreamed about having a baby and who had specific things in mind for what she wanted in a child. Jayline met all the expectations that Jac had for her but she has brought challenges that no one could have expected. Without thinking through all of the specifics, you just know that this mom looked forward to all of the events that would take place in the life of her daughter. Heartbroken is the word that comes to mind most when I think about what her response to the diagnoses must be. We need a treatment and a cure for Batten Disease so that young moms (and dads) have hope when given this news. I know that Jac has received tons of support from her family. The fact that she was able to complete her training to become a nurse testifies to that fact. How will the experience of being Jayline’s mommy impact the quality of care that she provides for those she cares for as a nurse. Maybe she will be kinder and more caring as a result. Maybe more patient and empathetic. I am sure that friends and family will benefit from what little Jayline teaches her about how to love more deeply. This may also be evident as she provides care to her patients even if they are unaware of where all of her experience comes from. Jacqueline has a big future in front of her even if there are to be challenges along the way.
And again, there is Tammy and Jennifer. I asked a couple of different people (locally and outside of the Batten community) if they felt that the relationship that exists between these two ladies is extraordinary. They both agreed that what has occured between Jennifer and Tammy is extra special. Jennifer described the relationship that exists between the two of them and also what there days are like as a result, “Tammy has become my best friend, my sister, my confidant, and the one person I know where I can drop the happy smile and breakdown without judgement. She’s my PERSON. We have family gatherings often. Some are scheduled, others on a whim. We are the ones that always take Jayline to her Doctor that we referred to as our Batten specialist. The one that we are always late getting to, Lol. Afterwards it’s a girls day with Cheeks full of eating out, Starbucks, and shopping.” Jennifer is having to be away once again in Georgia. This is due to her mom needing extra attention. Having Tammy there to give Jayline the care she needs when Jacqueline is at work gives Jennifer peace of mind. This even though she misses little Cheeks terribly. The two of them share a bond that goes back to the very beginning of Jaylines life.
All three of the Vaughn grandparents consider themselves to be more than just cordial to one another. The three of them are more than just friends, they are family. They came together for, and as a result of, little Jayline. I am sure that life is so much better now. Jennifer said as much as she shared the following which is completely transparent, “Before Bill, Tammy and I decided to let go of the past I was full of dislike and jealousy towards them. I never realized how much energy I was wasting and how it added so much unnecessary stress to both of my girls. Now, I can’t imagine them not being in my life.” Does this kind of thing really happen. YES it does, but in this case, it took a little girl that everyone adores. Her impact on this family will always be felt, even if her time on this planet is cut short. The fact that she will always be present in that way is a a very special thing. She is angelic and she will always be that! This is now one big family and my desire is that they would continue to see each other through the challenges of life. I just bet that they will. Was Jayline sent to accomplish this in her family?
I have to repeat the question that was asked at the beginning of this story concerning kids with Batten Disease. Once again, 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 that both are true. It is heartbreaking to see a child suffering from Batten Disease. That is an understatement if that child is a member of your family. Undying love and a bond that can never be broken. Once you give a little a piece of your heart to these kids, they come close to taking all of it. Ask Jennifer. Ask Bill, or any of the others! It is them but they also produce feelings in us that no others can. They reveal to us that indomitable human spirit that can exist in spite of difficult circumstances. Their laughter can be heard until they are no longer able. Their strength is clearly seen and will always be remembered. Show us much more Jayline, for many more days to come. This is her little story. It’s not really little at all. Is it?
Blogger and Advocate
“I sang to him, called his name a number of times, and talked to him in hopes that he would come back to us, but with no success. I had no idea what was happening to my baby. I thought the worst and was on the ground crying like I have never cried before. The staring and jerking stopped after what seemed like an eternity, then he fell asleep.”
~Barbara Elizabeth Diaz~
Speaking of Kaleb’s first seizure
One of the things that I have seen during the time that I have been writing these stories is that there is no love like the one that exists between a Batten child and their caregivers. The bond that is created is incredible and that is the way that it should be. Batten children and the way that they model resilience and the indomitable human spirit are most often without equal. To put it plainly, these kids melt your heart. Think about the heartache that comes from watching these little warriors battle Batten Disease. Add in the effort that you see displayed as they give their very best. All the while, you often see them do so with a smile on their face. It is no wonder that they are adored by so many of us!
I know that I am always at the risk of sounding like a broken records as I have repeated myself many times over in this blog. I have shared the things that I see in these families in the past. I just have a tremendous amount of respect for them because of all they go through. The more that I have written about families that battle Battens, the more passionate I become about following their journeys. These kids are just the most amazing and they are due every bit of the attention that they receive. Batten Disease is for them, and their families, a battle. Sometimes, the battle involves controlling seizures and sometimes the fight involves just being able to breath. Sometimes, rather all of the time, the battle involves dealing with the emotional toll that the disease takes on a person. This, as they watch their little warrior lose abilities like being able to walk, or just see. Maybe the battle involves dealing with insurance companies in being able to get the things that you know you need. Sometimes, it involves dealing with an entire government agency for approving treatment that can help a darling child. Maybe you have dealt with people that just don’t care and those who just cannot understand. This is all, the battle that is Batten Disease. These kids are warriors and their families are asked to “warrior on” as the battle continues.
Is it fair to refer to children, and young adults, who have a rare and fatal disease as Warriors? After all, there are not many things that can compare to the terror of war. What about children with cancer? Still, there are others who have various forms of disabilities. Their bodies don’t work like we wished they did. This can lead to many days spent in frustration as those special needs are attended to. Perhaps it could be said that there are different kinds of warriors, as well as, different kinds of battles. I don’t think that members of the military would mind sharing that title with these children. After all, both types of battles are ones that are battles for your very life. Kids that battle Battens are true warriors! They fight so hard as the battle intensifies. Battens is a battle like none other (I know there are other types of warriors) and it is fought by those who should not have to fight. A child’s life is suppose to be filled with innocent fun and wonder as life’s lessons are taught to them. These kids are so special and it is difficult to find words that are adequate. Batten Disease is classified as being rare and yet you may not think so if you were to look at the number of children that battle it. They battle so sweetly and this next story is about two of the sweetest. They are both Warriors Unaware! Those two little warriors are Mia and Kaleb Diaz. Together, they are referred to as the Little Batten Warriors and this is how their story begins. Like it happens in most of these stories, the whole thing begins with two people who meet and fall in love. That is the way that it should be.
They were warriors at the time they had first seen each other. Actually, that was the name of their school mascot. They were the West Orange Warriors. Alex Diaz and Barbara Navarro first came into contact with one another while in high school. That was in Winter Garden, Florida at West Orange High School. Alex, whose legal first name is Alejandro, was a senior at the time and Barbara was in her sophomore year. They had no idea at the time what their futures held or that their future would include each other. Barbara would see Alex assisting the teacher as she attended her AP Spanish class but they were not yet acquainted with each other. It was through mutual friends that they would meet in 2003 and Alex would graduate in 2004. Barbara had been in a relationship at that time and it would be later that year that she would give birth to a baby girl. She was a special gift to Barbara and she would be named Jaylen. Baby Jaylen was beautiful to behold. She had all her fingers and toes and she was covered in brand new baby skin. Jaylen was a jewel in the making and she would one day grow up to be part of a very special story that was one in the making.
Barbara, herself would graduate from Ocoee High School in Ocoee, Florida. This was because her neighborhood had been rezoned in the time that she was in Highschool. She would graduate in 2006 and that would be around the same time that she would meet up with Alex. They had not seen each other in two years although they were friends online. Barbara said that it was through a couple of mutual friends of theirs that they had reason to meet up in person. Their friends had welcomed a new baby into the world together and both Barbara and Alex were there to meet and visit with the little family. Purely coincidence? I don’t think so! As the time together progressed, Alex and Barbara found themselves staying a bit longer in order to catch up with one another. Alex was showing interest in Barbara as, according to her, he was “showing flirty eyes” and shy behavior. Barbara went on to say that at that time, she had a lot going in life and she felt as though she was not ready for a relationship. Even so, they continued to be friends. It would, however, be about a year later that the future couple would reconnect over social media. Barbara had two jobs at the time and little Jaylen, who was three years old, to look after. Alex remained patient and that would pay off for him when it came to Barbara. They would spend long hours on the phone and would spend time together whenever possible. What started as a severe friendship would lead them to become boy and girlfriend. This was taking place in 2007 and as time moved along, they decided that a life together was what they wanted. They were engaged to be married in 2008 after Alex proposed to Barbara. Of course, she said yes!
The couple became man and wife on April the 16th of 2009. They didn’t have a lot of money but they had what was important. That is, family and each other. Things were kept simple as they were married at the courthouse. Only siblings and their moms were present. It was later, on the weekend, that the celebration took place and Barbara described the entire experience and the preparation that was involved, “We didn’t have a lot of money so it was nothing fancy. We stayed up all night baking four lasagnas and spreading butter and garlic on several loafs of French bread. My mother-in-law made our cake based on a picture that I found online and sent her. It was perfect and delicious. My mom made more food to serve that day and my grandmother made a beautiful balloon arch as a backdrop to the cake table. We had a white chocolate fountain to dip fruits in and that was probably my favorite thing there. It was small, simple, very intimate and perfect. We truly enjoyed our day.” The young couple talked about having a larger celebration in time when finances allowed. Perhaps for their five year anniversary. Alex and Barbara had no idea, at the time, what all would take place in the course of those five years. Then again, I guess we never do.
Making a Family
It is a beautiful thing when two people find love and set out to spend a life together. More often than not, the plans that are made include dreams of having a family and all of the things that would come along with that. Things like milestones that are reached and life events that bring with them lasting memories that are so special. I think that Alex must have felt that he walked into a situation that was pretty special and I bet that he just loved being Jaylen’s dad. And still, there was a desire to increase the size of their family. They worked on this from the very start but initially, Barbara was not getting pregnant. The couple took this as a sign that it was not the right time and that they would just leave the whole thing in God’s hands. It was time to relax and just enjoy being a family of three. That is exactly what they did and that brought with it a really positive result. The young couple had been getting ready to go to a get together with some friends and Barbara felt like she should take a pregnancy test before they went. She told me that she had not even finished washing her hands before she saw the word “Pregnant” flashing on the pregnancy test stick. They were going to have a baby. Jaylen was going to have a playmate! Barbara said that Alex was so excited and that he “beamed with joy” over the news. Right away, he had to share it with friends and he did so with a minimum of three of them. Their dream of increasing the size of their family was coming true and they were all so excited.
Barbara shared that the pregnancy was hard on her. She had lost her appetite and she had lost thirteen pounds as a result in the first trimester. The doctor was concerned. He felt that it was possible that the baby might not be growing at the proper rate and so he ordered monthly ultrasounds for Barbara. The tests would reveal that the baby was doing just fine and was growing at the proper rate. This was a relief for everyone. It was on one of the early ultrasounds that it would be revealed that the couple was going to have a girl. Little Jaylen was so excited with this news and so were mom and dad. It was during the ultrasounds that they could even make out small details of what would one day soon be a most beautiful baby girl. Every ultrasound technician had made comment about the baby’s lips. It seems that she shared with her dad what Barbara referred to as “full pouty lips”. Well, Alex is an attractive guy and sharing his lips with his baby girl would work out just fine. The couple had discussed names before Barbara even became pregnant and Alex told her that he liked the name Mia for a girl. Barbara instantly fell in love with the name, and so, Mia it would be! Barbara would also say that her future bundle was very active inside of her. She would make it difficult for mom to sleep at night. Barbara described what this little person was doing inside of her, “This baby was feisty and, oh so active. I would tell Alex that I couldn’t lay on my side at night because the baby would kick, jab and flip until I moved.” Kids will be kids and they often get their way. Don’t they?
Barbara’s pregnancy would move along and stay on track as the day arrived. They were so excited as they welcomed their new baby girl into the world. It was in the morning at 9:11 on June the 11th of 2009 that Mia Alejandra made her appearance. This happened at Winnie Palmer Hospital in Orlando, Florida. Mia was perfect in form and she was perfectly beautiful from the very start. According to Barbara, she had huge brown eyes, rosy cheeks, and just as expected, full pouty lips. Barbara described what she had seen and what she was feeling as she held Mia for the first time, “She was beautiful and so delicate. Holding her for the first time was so special, she looked right into my eyes and I fell deeper in love with her. Shortly after birth, she latched on like a pro and we fell asleep together.” There is a bond between a mother and her child that is like none other. It starts as mom carries the baby inside of her and it only deepens as the baby arrives. They now had two girls. How exciting! I know that Jaylen was thrilled to have a new little sister and Alex was so proud of his little family. He now had three beautiful girls in his life and life was, all of a sudden, very full and fun too! Barbara stated that Mia was a great baby. She was very easy going and slept through the night before she was even three months old. She was a happy child with typical development, meeting all of her milestones as one would expect. Some, she even met early. The future was oh, so bright and who would expect that it would be anything but that?
Alex and Barbara were overjoyed with the way things were taking shape. They loved having their two princesses and also the life that was theirs together. As time moved along, Barbara decided to continue on with her education by returning to college as the plan was to finish before having any more children. According to Barbara, her plan was apparently not God’s plan. This, because she soon found out that she was carrying yet another little bundle of joy. Barbara said that she had felt good overall during this pregnancy although there was a scare for them nine weeks into it. It happened while Barbara was at work. She was, at that time, experiencing some heavy cramping and thought that she may be having a miscarriage. She went to the emergency room immediately and Alex would meet her there. They ran some tests and did an ultrasound. Alex and Barbara were so relieved to find out that the baby was still there. It turned out that she had experienced a subchorionic hemorrhage and the ER doctor told her that she would most likely lose the baby within the next few days. This was heartbreaking news as they were already so in love with their yet to be born baby. However, their fears were relieved the following week as Barbara visited her regular obstetrician. He assured her that everything would be okay. The baby’s heartbeat was strong and Barbara was given a peace of mind about the baby’s future. Not only that, but it was discovered a couple of months later, during another ultrasound, that the subchorionic hemorrhage was gone.
Crisis averted, the baby would go on to do well and stay active. They would find out soon that Barbara’s next baby would be a boy and this left everyone super excited. How perfect is that? Barbara said that Alex was ecstatic! Who wouldn’t understand that? Alex was going to have a son. Expectations for a future together had to be high. In their boyish bundle’s case, they did not have a name picked out. They instead decided to wait until he would make his appearance on the planet. The day would arrive and the size of the Diaz family would increase by one with the birth of their baby boy. He would make his appearance on July the 8th of 2010 at 12:15 p.m. They named him Kaleb Alejandro and he was also born at Winnie Palmer in Orlando. I think that Kaleb must have considered it to be a rude interruption to his chill existence in his mommy’s tummy. This, because as Barbara put it, “Kaleb came into the world crying his little head off.” Kaleb was the perfect little man as he made his entrance in everybody’s lives. He had all of his fingers and toes, plus, he came straight to the showroom floor complete with that new baby smell. He already had a complete head of hair and one nurse decided that Kaleb needed a mohawk. A little baby with a warrior’s haircut.
Barbara would describe the reaction of the rest of the family as Kaleb entered their presence. He was held in his mother’s arms and she stated the following about the experience, “When I held him it felt like he was the missing piece to our family that we didn’t know was missing. Alex beamed with joy as he held his first son and held him with great pride. His sisters welcomed him with lots of hugs and kisses, they were so happy to have him as part of our family.”
Watching Them Grow
Moms are most often amazing in the way that they observe their children as they develop. Comparisons can be drawn from one child to the next as milestones of development are reached. This is only right as reaching milestones is an indicator as to whether or not a child is on track. I am sure that having big sister Jaylen around for comparison to Mia and Kaleb was useful. Everything had gone well with her development and in fact, she was really ahead of schedule in many ways. Jaylen could speak in both Spanish and English by two years of age. I also think that having Mia and Kaleb being so close together in time of birth helped to compare and contrast the speed at which they developed new skills.
Mia would do well in reaching her milestones. Barbara stated that she was walking unassisted by eight months of age. It wasn’t long after that she was entertaining others with her dancing. She sang so beautifully and so sweetly and she enjoyed doing so with her big sister. Mia loved to color and also loved helping in the kitchen. She liked baking so much that she would watch YouTube videos that she searched for by herself. That is amazing! Mom was quick to assist Mia in her progression. She enrolled Mia in Mommy and Me Gymnastics and they both enjoyed it so much. It took place every Saturday morning and they would complete the outing by going to the Cracker Barrel for pancakes together. This made Saturdays their favorite day of the week. Barbara also said that Mia had developed the most amazing little personality. Not only that but she was very kind hearted. Mia would seek out children that were playing alone at a playground and would play with them. It was easy to see that she was growing into one amazing little person!
And then there was Kaleb. Barbara said that little Kaleb epitomized what it is to be a mommy’s boy. She did so by stating that “wherever mommy was, there was that chunky baby boy too.” She also said that little Kaleb was, and still is, the “the happiest, sweetest, most caring and loving little boy…”. When it came to his development, he was right on track for the most part. The only exception was a speech delay that was noticed just after he turned one year old. Barbara would push for a developmental evaluation by age two. Alex and Barbara were told that Kaleb would catch up to his sisters as it was typical for boys to sometimes develop more slowly in the area of speech. It was also felt that Kaleb may have been confused because two different languages were spoken in his presence. The family would eventually start to speak only english in the house as a help to Kaleb and he would begin to receive various types of therapy. Those included speech, occupational, and physical therapy. All of this seemed to bring with it a positive result as the little guy began to show improvement.
Every family has their own challenges to face while raising children. That is part of living on this planet. Some will have challenges that are greater than others. Children will sometimes come to us with a disability or something that will have to be overcome. Sometimes, things that seem to be minor in nature develop into something that takes us completely by surprise. Just as one would expect to be the case, there was no way that the Diaz family could possibly have known what was lying in wait for them. Circumstances that were rare in nature would someday soon confront them. They would be given a challenge that was outside of the “normal” range of circumstance. Soon, a couple of little warriors would occupy their presence and a battle for the entire family would begin. To this point though, life was normal and the usual challenges would present themselves.
Alex and Barbara were a hard working couple. Having three children and keeping a household in place is a lot of work all by itself. Providing for your family requires hard work and dedication. Alex was providing for his family while working as a building painter. He would work by project and this meant that work was not usually year round. Barbara would alternate by working when Alex was not. Most people would understand how that could be a challenge in itself. As a result, Alex made the decision go into the military. He wanted to be able to provide a more stable income for the family, as well as, good health insurance and the ability for him and Barbara to attend college. This led him to join the Army in 2011. His initial time in the Army would include Basic Training and the additional training that is required for his military occupation. This, of course, meant a time of separation. Although this may have been difficult, it would prove to be well worth it. The family would eventually reunite and then Alex would be stationed at Fort Drum in New York. This took place in the summer of 2012. As a family of five, Alex would bring his own little army with him as he started his time in the military.
That first year must have been somewhat chaotic as the Diaz family adjusted to their new home and lifestyle. I am sure that there was also much to be excited about, as well as, a lot of joy over the experience of being together. The kids were all growing and together, they were all growing into being a very charming family. Life was good but the family’s circumstances would change as a very scary and traumatic occurrence would take place. Barbara remembered that it was on January the 3rd of 2013 that things would begin to change. They had family in town for the Holidays and something terrible would take place with little Kaleb. Yo Gabba Gabba is an educational children's television show that uses puppets and it was a favorite of Mia and Kaleb. At the time, Kaleb was watching it on Barbara’s phone while being held by his uncle. He thought that Kaleb wanted to go back to sleep so he handed him back Barbara. She thought that to be odd as Kaleb had recently woken up. All of a sudden, Kaleb stiffened and his eyes rolled back, fixed to the top right position. You can only imagine how panic stricken Barbara must have been as she observed this happening. She immediately handed Kaleb back to her brother and yelled for Alex to come downstairs. Kaleb jerked six times as Alex arrived within seconds of hearing Barbara cry out. Alex grabbed Kaleb and Barbara’s brother called 911.
Alex paced the floor, answering questions about Kaleb’s status. Kaleb was still out of consciousness and turning purple. Barbara was singing to him and calling his name in an effort to bring him back. She talked to him in hopes of bringing Kaleb back to them. All of this with no response. She had no idea what was happening to her baby and she thought the worst as she sat on the ground crying like never before. Barbara stated that the staring and the jerking would stop after what seemed like an “eternity”. Kaleb would then go to sleep as whatever had taken place had worn him out! The ambulance then arrived and Alex would ride with his son to the hospital. Barbara would follow in a car with her cousin. Both had wondered if what had happened with Kaleb was caused by the weather. This, because it was negative twelve degrees at the time. As you may have guessed, Kaleb was diagnosed with having had a Febrile seizure caused by an elevated temperature. At the time, he had a temperature of 101.9 degrees that was caused by a bilateral ear infection. They read the paperwork that was given to them and would spend hours on google for more information. They loved their little Kaleb, and who wouldn’t understand that? For Alex and Barbara, it was the scariest day ever and they would bring Kaleb to the pediatrician the following morning. He was prescribed antibiotics and pain medication for a two week period. Barbara would watch little Kaleb like a hawk after purchasing several types of thermometers. Alex helped Barbara calm down as things “kinda” went back to normal, however, she would not leave Kaleb’s side.
As Barbara would put it, “This was only the beginning” of their journey as they had no idea how dramatically, their lives would change. The circumstances that would involve two of their precious children would continue to be pieced together. This, as the next event took place just three weeks later and this time, it involved their little jewel Mia! It happened on a busy but “regular” day and with that, their lives would become anything but regular. The day was January the 22nd of 2013 that they decided to get chinese take out for dinner. They normally ate dinner together at the table with the two youngest in their highchairs. On this day, they had been out and busy so they allowed the kids to watch Yo Gabba Gabba while they ate. This meant that the two of them were facing away. Barbara said that she noticed something dripping from Mia’s chair. She thought that Alex had given Mia some water and that it was spilling onto the floor. Alex had not given her water and he thought that perhaps it was because she had an accident. Then Mia leaned over and looked down to the floor. Barbara urged Alex to go check on her as she felt that to be unusual. Alex felt that perhaps she was sad over having an accident but then realized that his little girl was not okay. Barbara described the scene and what her reaction to it was with the following, “Alex picked her up and told me that she was having a seizure, the gaze she held was too familiar to us and she started to turn purple. Mia didn't twitch or jerk, she just had her eyes fixed to the top right and was breathing very slowly. I was stuck, I couldn't move from the dinner table. Alex passed by with her in his arms and when I saw her face and clenched hand I couldn’t help but think "why is this happening? What is going on with our children?” It felt like a nightmare.”
This time, the family of five was alone in the house. Barbara said that her hands were shaking so bad at the time that she couldn’t dial 911 and so Jaylen, who at this time was eight years old, called for an ambulance. Barbara went on to say that she would get ahold of herself and inform the dispatcher about the ongoing situation. Mia would then stop seizing and would fall asleep. Alex, once again, accompanied one of his children on an ambulance ride to the hospital. Can you imagine his level of concern as all of this was happening? Barbara would load Kaleb into the car and, along with Jaylen, would follow in route to the hospital. Once there, they took vitals and and also did bloodwork. They even did a CT scan and everything had come back in the normal range. Barbara had hoped that this was the result of a Febrile seizure but in fact, there was nothing that they could attribute Mia’s seizure to. The staff said that it was probably a fluke. That is not something that you tell a child’s parents and in fact, it didn’t sit well with Alex and Barbara. They immediately searched for a pediatric neurologist and they were actually able to get in for an appointment the next day. This required an hour and a half drive to Syracuse, New York. That didn’t matter to them as they would have done whatever it takes. Alex and Barbara received referrals for EEGs and more blood work while they were there and with this, a ten month search for answers would begin. There was so much more that would take place and the next occurrence would happen just four days later. This time, it would involve their little man Kaleb.
It was breakfast time and Kaleb was hungry! He had made his way into the kitchen as Barbara was making breakfast and he was a little whiny at the time. Kaleb was acting kind of “bothered” as he approached Barbara and then he fell forward. Barbara said that Kaleb can be clumsy at times but this was different because he did not catch himself. She then picked him up and he seemed a little bit scared but otherwise fine. She then put him down and he headed back into the living room. As Barbara was headed to the breakfast table, with food in hand, Kaleb walks towards her but then falls again. Barbara called Alex and asked him to come home as It was easy to see that something wasn’t right with Kaleb. Another trip to the emergency room and this time, Kaleb would have a grand mal seizure. How scary this must have been as the frustration continued to grow. Kaleb turned pale and then blue and he was not responding. This time, as they ran labs and checked him out, it was determined that he was fine. No fever or ear infection.
Searching for Answers
As a result, the couple would contact their pediatric neurologist who wanted Kaleb admitted to the children’s hospital in Syracuse. Alex and Barbara would do just that as more testing would be performed during the stay. The testing would include an EEG and all tests would come back as being normal. What was happening to these beautiful children? The doctor wanted to start both Kaleb and Mia on antiepileptic medication however, Alex and Barbara were not comfortable with that. They instead wanted answers as to what was causing this. They wanted to know what was causing the seizures. Barbara further explains what their thinking was at the time with the following,“We thought it had to be environmental because both children started seizing within weeks of each other and it just didn’t make sense. Plus, the fact that we lived in an older home on post had us thinking.” As a result, they had their home tested for lead and had the air quality tested as well. The testing of the house would reveal that nothing was wrong with the environment within.
The couple wanted another opinion, however, the next closest pediatric neurologist was three hours away in Rochester, New York. This caused them to make the decision to seek out that opinion at home in Orlando, Florida. They would travel there in April of 2013 (Alex would later have to head back to New York because of his job) and would select a new neurologist after after doing some research. They made their selection and the result was that both children would undergo a 24 hour EEG. The doctor would add additional time, if needed, until he either caught a seizure as it was occuring or he got what he needed out of the test. They started with Mia and then did the test on Kaleb the following week. The doctor had a testing facility right next to the clinic where they would stay for the test. Mia loved it there as they offered unlimited snacks! After completion of the testing, an appointment was attended in which both kids received the diagnosis of epilepsy. They were both started on medication with the hope that it would lessen the frequency of the seizure and that one day, they would outgrow them. There must of been a sense of relief with the initial diagnosis but this would be short lived. At the time that June 1st rolled around, it was noted that the seizures were getting worse, not better. How discouraging this must have been. Poor Mia would go into a full body seizure as soon as she stepped outside into the summer heat of Florida.
Barbara said that it seemed like Kaleb was dropping to the ground every half hour. Everyone was very concerned and this included the children’s neurologist. Barbara went on to say that this all would have made better sense if the kids were twins but they were just two siblings whose births were separated by time. How could all this be happening to two different children in one family? Mia and Kaleb’s seizures had both started around the same time and they were out of control in both children. The doctor would make a medication change for both of them and he decided that the search for answers needed to continue. He asked Barbara to schedule an MRI of each of their brains and said that they would go from there. The next step in the search for answers came right before Kaleb’s birthday and Alex took time off for both MRIs. The results of the tests would show that there was mild atrophy of Mia and Kaleb’s cerebellums. The doctor said that Alex and Barbara shouldn’t worry as that could mean nothing. He wanted them to wait on the results of a genetic panel that he wanted performed on each child. As you would expect, that testing is expensive and the family would have to wait on authorization from the insurance company. It would take over a month for the approval to be given. In the meantime, they would have to wait and endure as they continued to wonder what was taking place with these two precious little people.
They call kids warriors for a reason when they battle rare diseases (and childhood cancer). This, because they have to endure things that should be missing from a child’s life. These little people battle even though they may not be aware of the gravity of their situation. Sometimes they battle reluctantly and sometimes they do so because that is the life that they have come to know. Often times as they battle, they do so with a smile on their little face. One thing that amazes all of us who follow children that battle Batten Disease is the resilience that they display. The way that they innocently accept their plight is something that just amazes me. And still, I am sure that it is never easy for them and it is certainly not for those who battle alongside. I am trying to picture what it was like to have not just one but two children that are suffering from something that they did not know existed, while not yet having the answers. Alex and Barbara pressed on because they loved their kids and wanted to do what is best for them. Finally, the time came in which their kiddos would get their blood drawn. In everything that the future would hold, these little warriors would face it together. Brother and sister. I’ll leave this part in Barbara’s own words, “In August (2013) we finally were able to get their blood drawn for it. They (mostly Mia) were so accustomed to having their blood drawn that Mia will always volunteer to go first, she extended her little arm and with tears in her eyes would stay very still until it was over. Then she’d say ‘it’s Kaleb’s turn!’ And in a sing-songy voice she’s says ‘Kaaaleeeebb your turn!’. Kaleb of course, hated it and screamed bloody murder as we had to hold him for it. I’ll always remember how attentive my girl was, most children’s clinics have stickers or lollipops so when given one (Kaleb was usually engrossed in his ipad) she’d always remind the nurse about her brother. She’d tell them ‘Kaleb wants one’ in the cutest most concerned voice.” Mia is so special, so innocent, and so sweet!
Barbara was told that it would take six to twelve weeks to get the results of the blood tests. It was a challenge for her to wait and Alex had returned to New York. I am sure that the distance between them kept him anxious as they waited for the results while being miles apart. The one thing that helped Barbara during the wait was that she was kept busy by tending to the children. The change in medication must have helped because the seizures were eventually back under control. This allowed them to go have some fun. Barbara and the kids were able to go to the beach and they were even able to go to Disney World on occasion. The kids started school, Mia in Pre-K and Kaleb in a special program for kids with speech delays. Even though busy, Barbara would still check to see if the results of the testing were available. She called on a few occasions but each time, Barbara was told that they weren’t available yet. I am sure that this led to anxious moments that were difficult. The wait would continue and it would last all the way into mid-November of 2013.
It was the 14th day of the month that Barbara found herself with, her children, in the waiting room at the neurologist’s office. The day had finally come and it would be a day like none other. One that Barbara will never forget. They were called back to the exam room as Mia and Kaleb were doing what kids do. That is being kids. I am sure that for Barbara, there was a lot of tension in the air as she anticipated hearing what the testing had found. It was easy to see from reading about the event that the kid’s neurologist was a very kind and empathetic physician. Barbara’s response to what she would hear seemed so much like the other accounts. Those being, the ones that I have read from parents that have received the news that their child has Batten Disease. Here is how she would put it to me, “Dr. Davis walks in, greeted each of us as he usually does, sits and just looks at me. He looks at me with this look that at the time, I didn't understand. Mia goes up to him and sits on his lap, he looks at her and says ‘oh sweetie’ then glances over at Kaleb with the same look still on his face. He tells me that he doesn't have good news and that he hates to be the one doing this. He said a bunch of things that I cannot remember, it was like a foreign language to me. Whatever he was saying started to sound really far away but he was directly in front of me. I only remember hearing ‘..and the worst part is that they both have this and I can't fix it’. I kinda snapped back into reality and he noticed that I had not understood a word he said. He was very kind and told me that if I have any questions or if I just want to talk, to call or come in at any time.”
Barbara was given a stack of information that included the results to the testing and she was advised to make an appointment with the geneticist. As she heard this from the doctor, her thinking was that the geneticist is the one that could treat Mia and Kaleb. That was the person that could fix this problem! Her next step was to contact Alex and inform of the findings. He agreed that she needed to contact the geneticist as soon as possible. With hope still in the air, she moved quickly to get an appointment. As it turned out, she was able to get a late appointment for the same day and so Barbara rushed to pick up Jaylen from school in time to make the appointment. Unlike Dr. Davis, the geneticists bedside manner, if you will, was not empathetic at all. She was very cold and cruel in the manner in which she explained the seriousness of the children’s condition. Very bluntly, the geneticist had the following to say, “They will be bedridden, tube fed and blind. There is no cure, we can only treat the symptoms.” It would be devastating enough if all of this was explained to Barbara in a kinder fashion. What little hope that remained for a fixable situation was dispelled with the careless explanation. Barbara’s response was, of course, so much like all parents that receive the news that brings with it utter despair.
Reaction and Resolve
Here is more of what she had to say, “I held back my tears as the kids were present. The nurse came in with a green folder with more papers inside. I opened it and for the first time, read the words ‘Batten Disease’. I loaded the kids in the car, called Alex and broke down crying while hiding behind the opened trunk of the car. Driving with tears running down my face, we were almost home and I heard Mia say ‘Mommy, I want a gurgur!’ We were passing Wendy's and of course I stopped and got her a burger, a frosty and fries. They were so happy enjoying their food and special treat.” So innocent and unaware of what their lives would entail, both Mia and Kaleb would be enlisted as warriors of a rare and most adorable kind. These kids that battle Battens just melt me inside as I think about their plight and what life should be for them. Barbara said that she would get home and begin a frantic search for information about a possible treatment. Alex would do the same thing from a thousand miles away. They each searched and shared what they had found. Nothing that they had seen showed any promise of helping Mia and Kaleb. That day had to be one of the worst ever experienced by the two of them. Barbara said as much with the following, “To say we were devastated and heartbroken is an understatement. We were told that our beautiful and happy toddlers had already lived about half their lives.”
Alex and Barbara had been given this most perfect, and perfectly beautiful little family. This, only to be told that they would one day lose a big part of it. It seemed at that point that things were completely hopeless, even in regards to a form of treatment. There would be no way to know what this young couple was experiencing unless they were to tell us themselves. Barbara shared more about what she was feeling at the time when she had written the following, “It's the type of pain that makes you feel like you're dying but numb all at the same time. It felt as if nothing in the world mattered, nothing at all. It felt as if the ground was taken from under you. You’re lost without direction or purpose. The world kept moving but I felt as if it should’ve stopped. It angered me that it hadn’t stopped. My children were dying and it seemed so cruel for life to continue to happen. I didn't sleep or eat. I simply obsessed over finding something, something to help save them.”
Without exception, parents who are given this news go from having feelings of complete devastation to ones that include great resolve. They decide that their children deserve every ounce of energy that they can give towards helping them to battle Batten Disease. The children become warriors but then, so do the parents. They all begin a search for help and information. The search begins, in most cases, with never having heard about the disease before receiving the diagnosis. Alex and Barbara began their search and it would include a series of Facebook group pages that would lead them to a very important couple. That couple would be Tracy and Jennifer VanHoutan. Just like Alex and Barbara, the VanHoutans had two beautiful children who had been diagnosed with the same variant of Batten Disease (CLN2 Late Infantile). Barbara would be able to make contact with them over the phone and they would share information and opinion that would be invaluable to her and Alex. I had the privilege of meeting Tracy and Jennifer VanHoutan at last years Batten conference and I was immediately impressed. As I write these words, the VanHoutans have lost their sweet children, Noah and Laine, to Batten Disease. That, however, was not the case when Barbara had made contact with them.
Barbara said that the VanHoutans had a lot of helpful information about therapies, vitamins, supplements, and most importantly, they shared with Barbara about clinical trials that were available. There were two different ones being done. One was a trial being done in New York involving gene transfer. There was also one being performed overseas and this one was an enzyme replacement therapy. At that time, it was only being performed in Germany but it would soon make its way to the United States. Barbara remembers that Tracy and Jennifer recommended the enzyme replacement therapy for Mia and Kaleb if at all possible. Their own children, Noah and Laine, would no longer qualify for the trial as they had progressed too far into the disease. This did not stop the VanHoutans from giving guidance to Alex and Barbara as that is the kind of people that they are. The Diaz family is far from being the only family that has received their help! Barbara reflected on that initial phone call about what she was feeling with the following words, “On this call, the VanHoutans told me that this is the route they would go if they still could. Their sweet children, Noah and Laine had already lost the ability to walk and talk and wouldn’t meet the qualifications to take part in the trial. I️ remember being on the phone with them and looking at their beautiful family photos on Facebook. My heart broke yet again for them and to learn how quickly this disease progressed just crushed me.”
Entering the Whirlwind
Barbara had just been told that two of her children had Batten Disease and all of a sudden, she was forced to process all of this information as she was surrounded by what must have seemed like a whirlwind of events. She would tell me that her “mind was all over the place” as she tried to process everything that she had learned. The sacrifices that these families are willing to make is something that always impresses me. Barbara would send an email to BioMarin, the creator of the enzyme replacement therapy, and they had made preliminary plans to move to Germany if accepted into the program. They were, in fact, soon in contact with the doctors involved with the trial and they would have to furnish proof that Mia and Kaleb met the qualifications for being accepted. Here is what Barbara had to say about the process, “They needed videos of the kids walking and talking but unfortunately, Mia stopped walking that Christmas. For months, we tried to capture videos of Mia taking steps and Kaleb saying words but it was incredibly hard as Batten progressed in their little bodies and their seizures worsened. It was January of 2014 when we received an email that they would be starting the trial in the United States and we knew that we must try our best to get our children in it.” There was hope in the air but challenges that needed to be met. Just like Barbara said before, the world around them was not stopping and life continued for them. Alex would take leave whenever possible and join the family in Florida. It was April the 5th of 2014 that their anniversary would come and the couple would renew their vows together in a beautiful ceremony. They then would take a beautiful family cruise to the Bahamas afterwards. There would be more trips to Disney World and also many trips to the beach for more summer fun. Little Kaleb was granted a Make-A-Wish trip and they decided on a Disney Cruise. It was amazing and Kaleb had the time of his little life. How wonderful! It was a perfect trip for him!
Alex and Barbara had not heard anything back concerning the enzyme replacement trial as August of 2014 rolled around. This led them to the decision to travel to New York to have both kids screened for the other trial. The testing was invasive and lengthy but they felt that they needed to have a back up plan in case things didn’t work out with the other trial. By the end of the month though, they were given the news that the enzyme replacement trial was a go here in the U.S. and it would be happening at Nationwide Children’s Hospital in Columbus, Ohio. They would make sure that the necessary information for their two children was forwarded to the doctors that was running the trial. Life, however, did not stop for this as September rolled around. Alex would have to transfer with the army and the family would find themselves in Colorado Springs, Colorado together. The key word there is “together” as they were once again, under one roof after 17 months of being apart. They would grow to love it in Colorado and the kids would become involved in therapies that included horseback riding. Mia and Kaleb loved doing this and, of course, those who knew them grew to love them both. Go figure! Things were not perfect though as the disease continued to take its course. These two precious little people continued to battle.
Barbara said that Kaleb was falling with greater frequency and he was becoming injured as a result. His little head and face showed the marks that were the result of the drop seizures he was having. Poor Mia was experiencing grand mal seizures that were just horrific. She was having them five to six days a week with them coming at least one per hour. As one who has witnessed grand mal seizures, I cannot imagine what this was like for this family. How terrible and how terribly discouraging. Knowing that there was this trial that could help and yet, having to wait. Some of the seizures were so bad that emergency medication had to be given and oxygen was even needed at times. This all left Mia being tired and her’s and Kaleb’s little bodies being battle weary. They would receive new information as October rolled around. They were told that the trial was “a go” and they informed Barbara that they would have to move there to Ohio for a year. I think that my head would be spinning too at this point. They were constantly praying that their two little Batten warriors would hold up long enough to get started with the trial. And then, it was November that they received some devastating news. One year after receiving the diagnosis, Alex and Barbara were told that there was only one spot available in the trial and that both children would not be able to participate. They were told that it would most likely be Mia that would start because she had not digressed as much as Kaleb. How difficult this must have been to hear! They decided to expedite Mia’s Make-A-Wish trip. This, as the trial would begin with brain surgery to insert a shunt for receiving infusions twice monthly. It was December of 2014 that the family would take Mia’s magical trip to Disneyland in California. The trip included time spent at Universal Studios in Hollywood. Mia loved her time at Disney which included a princess makeover. How fitting! It would be time to pack for the trip to Ohio as soon as they returned. Oh, my goodness! Mia would still have to qualify in order to be accepted and here is what Barbara had to say about that first appointment in Ohio, “It was our appointment day. We were so nervous we trembled and prayed and prayed that they’d tell us that they had another spot. After a long day at the appointment, we were told Mia was accepted. She walked 18 steps and said enough words. ‘Mommy, I want to eat eggs’ (in her own way but it counted).”
Mia, you did it! And so, on December the 12th of 2014 Mia had her surgery. She would become one of only three children to receive enzyme replacement in the United States and it would happen one day before Christmas eve. She would do so well with it and would earn the right to wear the title, Warrior Princess. The bi-weekly infusions would become part of the families routine. Alex would, once again, have to leave to get back to his job in January of 2015. This time, he was traveling back to Colorado and Barbara would again be alone with the kids. It would be in the summer that he would be able to gain a temporary position within Ohio so that he could be closer to his family. Alex and Barbara had become a warrior dad and a warrior mom for more reasons than one. Barbara said that they started to see small gains with Mia and she continued with the therapy. She was having fewer seizures and she was taking more steps. She was eating better and you could see the difference in her. What about poor Kaleb? While they had to have been so happy to see the improvements in Mia, Kaleb was declining. Here is how Barbara described what they were experiencing with Kaleb, “Our happy, energetic and lively 5 year old little boy took such a downfall. The end of 2015 was the beginning of even more struggles for Kaleb. He started to choke on his food, he began falling more often and he was having hundreds of seizures. He didn’t feel safe on his feet so he was mostly in his gait trainer or wheelchair.”
Right before their eyes, they could see the difference from one child to the other. One being treated and one not. I’ll let Barbara tell you what they were feeling, “It was incredibly hard to watch one of your children’s quality of life improve while the other one declined. It was absolutely heartbreaking but we still celebrated by Mia, all of her accomplishments and small victories which were grand in our eyes.” They would not give up on the prospect of Kaleb getting into the program. Alex and Barbara continued to send letters and emails to those by which Kaleb could gain entrance into the trial. Finally, by May of 2016, they were told that there was a high probability that little Kaleb would be able to receive the therapy. The big day would come and it would be in the following July, on the 6th day of the month. It was just two days before Kaleb’s 6th Birthday that he would have surgery to insert his shunt for the infusions. He was now to be only the fourth child to receive this therapy. As I write these words, there have been so many more that have gained access to this trial. Mia and Kaleb are not only little warriors. They are also little pioneers and they are so adorable!
Live Like Warriors
So as this story is being written, Mia has been receiving infusions for a little over four years and Kaleb has been receiving them for about two and a half years. They have just completed treatment number 110 and 68 respectively. Both of these little people are Batten Warriors in the truest sense! As one might imagine, Kaleb has struggled because he did not receive his first treatment sooner. This, of course, allowed further progression of the disease in him. The last two years have been difficult to say the least. Kaleb has had a feeding tube inserted for nutrition and he has been weakened to the point that he has had bouts of pneumonia. Even with the struggles, Kaleb’s presence at the Diaz house has provided many moments of joy mixed with extreme pride. This, as the family observes what a strong little warrior he can be with a little help from those who love him. Barbara shared a little more about Kaleb’s journey with the following, “He has had many daily struggles but still manages to steal your heart away with his tender smiles. We have now learned how to protect his lungs to keep him out of the hospital, strong and healthy. He has been showing us just how strong he is lately and we are impressed.”
Mia, of course, has benefitted from getting a jump on receiving the enzyme replacement therapy. Barbara shared what she is seeing in her daughter, “Miss Mia is incredibly strong. We are lucky that she is besides having Batten disease, a very healthy child. She eats well, walks with assistance and can still communicate with us with words. She just made 3 years without having a seizure and that’s just amazing.” Barbara shared that, in so many ways, Mia is just like any other little girl her age. This, even though Batten Disease has taken some things away. She still has her favorite movies and her favorite foods that she loves to eat. She loves music and time spent at the playground. She still loves watching Yo Gabba Gabba, and other shows like the Powerpuff girls. According to Barbara, “Mia is a happy, cheerful, playful, and fiesty nine year old little girl who loves life.” She added this in another place, “She loves to swim and ride on roller coasters. We encourage and help her do things to allow her every opportunity.”
The enzyme replacement is a wonderful thing. We still need a cure for CLN2 Batten Disease but having the treatment available is something to be very thankful for. Kaleb has certainly benefited from it even though he did not get to start it as early as his big sister. Barbara shared the following with me concerning her special guy, “Although Batten disease has already robbed Kaleb of so many things, Kaleb is still a regular boy in so many ways. Kaleb is a sweet, happy and playful eight year old little boy who enjoys life. He loves cuddling, being read to, watching his favorite movies/shows and being in his gait trainer/walker.” Kaleb loves music and he even has a favorite artist. He loves the music of Andy Mineo and in fact, Kaleb has met him four times! Way to go Andy! Kaleb loves Mickey Mouse, Nemo, and Monsters Inc. among others. Barbara said that Kaleb has had a crush on Rapunzel since he was one year old. Oh Kaleb, she is a beauty and I do not blame you one bit for that! Kaleb loves to swim and has taken a liking to roller coasters as of late. Just like with his big sister, mom and dad encourage him to enjoy everything in life that he is capable of enjoying.
What about Jaylen and all that she has endured? I haven’t talked about her too much in this this story. It is easy to see from all of the pictures that she is growing into an attractive young lady. I just bet that she has some maturity that is above that which is possessed by her peers. It is easy to see that she loves her sister and brother to moon and back but I know that she has been challenged by what is faced as a family. Barbara shared a little about Jaylen with the following, “We are constantly trying to tie the two worlds together so that Jaylen doesn’t miss out on having a ‘normal’ life. Jaylen has endured so much suffering as she has watched her siblings deteriorate right before her eyes and her life is mostly revolving around Kaleb and Mia. We hurt deeply for her hurt also.” I believe that as Jaylen continues to live her life, she will affect other people's lives through kindness. This, because of all that she has experienced. I have no doubt that she is a special person and that she will continue to be that!
Love Like None Other
I asked Barbara to describe the love that she has for each of her children and I will share what she told me as I begin to conclude. She used something from her childhood to reflect on as she began to answer my question, “You know when you were little and asked your mom who her favorite child was and she said something like you’re all my favorite for different reasons. I never got that until I became a mom myself.” She continued by sharing her feelings for little Kaleb first and then moved on to MIa, “My love for Kaleb is one that has never needed words. It’s the type that squeezes your heart a little until it physically aches and makes you all warm inside. We love that little boy to pieces and although he has never been able to say the words, we just know he loves us too. Kaleb has taught us so much about life. Patience, resilience, bravery and that words are not always necessary. Loving Mia is so easy. She’s sweet, fun and full of sass. Mia has taught us to be more adventurous, carefree and kind. She’s still that caring little girl seeking out a lonely soul to love on.”
I know that Jaylen has a very special place in the family as the oldest sibling and that she plays an important role in the house. Here is what Barbara had to say, “The bond and love we have for Jaylen is very special. Since I first learned I was carrying Jaylen, she has been teaching me so many important lessons. There is a big reason why she was sent to this earth when she was. Her sense of humor and compassion are two of our favorite things about her. Jaylen has such a big caring heart and the love she has for her siblings is incomparable.” Each one is special in their own way, just like Barbara said. They are special and they each belong to a very special family!
This is such a difficult challenge for any family. It is hard to find the positives but sometimes you are forced to look for them even if on most days, they just don’t seem to exist. I find that it is commonly expressed by all Batten families that they live in the now and that they try not to think too far into the future. Barbara stated her thoughts so practically, in the following, concerning how their lives have been impacted by Battens, “Batten disease has taught us to not take a single moment for granted. We have always valued our family time but now we are more aware of how delicate life is. We appreciate every day that we get to spend with our children and try to not spend too much time wallowing but making memories instead. (Although some days you just need to wallow with a large pizza).”
Batten Disease has. Of course, greatly affected this family and here is more of what Barbara had to say about their experience, “It has greatly affected us as a family as well as individually. We find ourselves carrying this huge load of pain while still tackling the daily mundane tasks as well as the major job of raising a teenager and caring for two medically complex children. It’s incredibly hard. Physically, emotionally and mentally. Relationships are hard, heck even getting out of bed in the morning is hard. Although I know that you don’t have control of your life in general, being a Batten parent teaches you that you are not in charge of a single thing in your life. All we can do is try our very best every single day and get up the next day to do the very same thing again.” I asked Barbara more about what their life is like and how they cope with the hardships that are faced. Here is what she shared, “We have found that keeping busy making memories and going on adventures as a family is our favorite way of coping. It is extremely difficult to think about what the future holds but we do hope that we see a cure for Batten disease in their lifetime. In the meantime, we hope that we are giving them the best life they can have and are making the right decisions for them, all while surrounding them with the love they deserve.”
During a lighter moment, I had shared with Barbara the fact that I had been referring to her and Alex as “my hispanic Ken and Barbie dolls”. This, as they are both attractive people. I was very much relieved by the fact that she laughed at my comment. In fact, she told me that some of her friends refer to her as Barbie. I truly believe that a person’s physical appearance is not everything. The substance of a person is really what is important. Alex and Barbara, however, are both people of substance and they are attractive as well. Their kids are all beautiful, just as you would expect them to be. What is a family like this supposed to be experiencing? Yes, there are early milestones that one hopes will be met but there are also so many life events that are important. Soccer practice and recitals. School dances and graduations at various grade levels in hopes that they will one day go to college or become successful in a trade. Maybe your daughter will be successful at being a mom and a homemaker. We look forward to all of the normal challenges of raising kids in hopes that one day, they bring us a son or daughter-in-law and maybe, grandkids! Along the way, a lot of precious memories are made as the years pass. Those are the things that sit in the back of our minds as new parents bring a child into the world. It is true though that it is often part of the human experience for things to happen that we never would have expected. When it comes to something like Batten Disease it just makes you want to say to yourself, “this is not fair!”
I had mentioned in a previous story that I had a brief encounter with Alex at last years conference. I found him to be very kind and gentleman like. I did not know at the time that he was active duty military. Both my wife and I are veterans and we would like to thank Alex for his service. He has had a lot on his plate, so to speak. I am sure that being in the army has brought with it other challenges, and I know that the time away from his family has been difficult on both him and Barbara. He is a great dad who loves his family and he would do anything for them. Barbara is an amazing mom who does her best to remain upbeat in the midst of the daily struggle. She is so nice! It is easy to see that this couple loves each other deeply. I know that their love will endure and even grow as a result of what they face together. Both Alex and Barbara contributed to this story in a big way. They not only helped to write it but they are living it out as their children battle. This is another amazing family that is battling Batten Disease. They just sought to be regular in their existence but they were asked to do something that is extraordinary. As a result, they have become a family that is completely special. No two little people will affect the lives of those that know them like Mia and Kaleb will. They both have a ton of fight left in them as they are both Warriors Unaware. We need a cure for CLN2 and for all of the other variants of Batten Disease. These kids are counting on people that can make a difference. There is something truly special about them! Let’s give them our best!
Blogger and Advocate
“I would never look at things in the same way ever again. I had been made aware and I had met the one who was responsible for that taking place. She was beautiful and I would soon mourn along with all of those who followed her. This, as she passed into eternity just three months later. Why Batten Disease and these families? Why do I continue to hold them in such high regard, and why do I pay so much attention to this one childhood disease? My perspective in life had changed once I was made aware, and these precious Batten warriors have become much of my focus.”
Taken from the blog titled “Lasting Impressions”
It’s hard to believe that I have been at this for two years now. It has, in fact, been a little longer than that. I started writing back in 2016 in order to share the experience of diving an underwater memorial and also to share about meeting a very special Batten princess. I had also written a little bit about being Benjamin’s Daddy. There was a time when I was asking myself something like “where do I go from here?” I had found that I loved expressing myself and discovered that I was okay at putting words together. I didn't want to quit but I felt that anything that I could write about myself would be boring to most people. Maybe my career, yawn! Sure, rockets and helicopters are cool but I didn’t exactly invent the things. I never have been the best at any one thing that I have done for a living so telling people about all I have achieved would not be possible. I really do not have much in the way of advice that I can offer so blogging about myself wouldn’t be of much help. I do love my life for the most part but telling you about all the things I have achieved, well, It is just not happening.
I was at one point made aware about Batten Disease through a set of circumstances that I consider to be part of my story. Everybody that has been made aware has their own story as to how it happened. For many, it came about simply as a result of searching for things of interest on Facebook. In the end, I suppose the means by which you were made aware doesn’t matter, as long as you were made aware. People need to be made aware because that effects change. Just knowing about these families is important because these children are so very special. What about all of the other kids that suffer from cancer or other rare diseases? Are they not important also? Of course they are! It doesn’t matter what the affliction is. We are talking about children and sometimes young adults. Devotion to those who battle a disease exists no matter what the source of the battle is. Kids are to be adored, no matter what.
So why have a blog that just talks about one disease? You know, it might not be that way if I had more time on my hands. I do think that more attention needs to be drawn to rare diseases in general. At one point I had started to reach out to the pediatric cancer community but then I realized something. There was no way that I could do a good job of being an advocate in that community and at the same time, continue to work on the behalf of Batten families. I just work too many hours. Anything worth doing is worth doing well and I am passionate about this. Children with Batten Disease have a big piece of my heart and there was no way that I was going to stretch myself too thin. I do also feel that you as families in the Batten community represent well all of those who battle other rare diseases. Your stories have much in common with theirs!
Working with the Batten community and being allowed to write these stories is very special to me. It is a privilege to have been given people’s trust and to be involved. The Batten community is a very special group of people. I have used a phrase a few times in my blog now that I like to repeat from time to time. I say that Batten families are made up of ordinary people that have been asked to do something that is extraordinary. To be given that news concerning your child’s diagnosis and the effect it would have on a parent. It is difficult for someone on the outside of the community to understand. You had hopes and dreams for a life that you helped create and then, all a sudden, you are in the midst of a search for answers. Hope for a diagnosis that can be dealt with eventually leads to something that you never would have expected. Something that most often, a parent didn’t know existed. The experience of going through the whole thing is as rare as the disease itself.
This leaves the Batten community a somewhat closed one, and rightfully so. This meaning that only those affected by the disease can truly understand what it is like to experience the things that are dealt with. Once welcomed in, each family gains access to a group of people that are able to understand what they are going through. This, because of going through it, or having gone through it themselves. There are some fantastic people out there that bring comfort and concern as they follow these family’s journeys and that work is so important as well. So why am I bringing all of this up? I am again, just expressing my gratitude towards all of you in the Batten community that have allowed me to write about you. I am also so appreciative of the families that have expressed their gratitude for what I am doing through their very kind words. I will never forget a comment on Facebook that was made by a Batten mom earlier on and it was simply this, “He is writing about us.” My thought when I saw that short comment was something like, “Well, yes I am!” You bet I am! There is a reason why.
I have never tried to claim that we have experienced what a Batten family will go through. We are, however, parents of a special needs adult. We were told by a geneticist that Benjamin’s condition was most likely degenerative when he was a young child (He is now 28 years old). She could never pin down a exact diagnosis and we have never continued to look for one. We knew because of the background in my wife’s biological family that we were predisposed to have a child like our Benjamin. We just never thought about the fact that it might happen. The end result was that we wound up with this most wonderful human being in our house, as well as, all of the responsibility of having him with us. What is my point? We know what it is like to have a child that does not function normally but we do not know what it is like to be told that our child has Batten Disease. I do know what it is like to have an extra strong bond with a child but I do not know the heartache that comes with having received that news. The news that your child has Battens. My sensitivity to my own son lends itself to a sensitivity to kids who battle Batten Disease. Does that make sense to you? There are other people out there that have a sensitivity towards these kids for their own reasons. I am friends with some of the best of them!
In the end of it all, I have this opportunity that I have been presented and I will continue for as long as I can and also, for as long as I am allowed to be involved. I have been rewarded abundantly for what I have done so far. Words really matter and they can be a great way of rewarding someone for something that is appreciated. Just knowing that I can make a difference in the lives of those who battle Battens has been very rewarding to me. Several people have commented about the fact that I have put a lot of time into writing about Batten families. A comment like this would be a true statement as this is where my time away from work is now spent. Some things have been set to the side but when you are involved in a “labor of love”, you gladly set those things aside. I have said in the past that it is because of these dear children that I discovered that I do love to write. I did not find this out until my mid 50s. Would it not be a great reward if I was able to write in my retirement? All because I fell in love with some of the most amazing little people on the planet? All because I took the time to write about them? I have been rewarded almost non-stop since the time that I first started doing this. Even if the only thing that I have gained from this is the kind words of people within the Batten community and those who follow them!
I created a Facebook group page and named it Benjamin’s Daddy - The Batten Blogger. I did this because I wanted to have a special place to connect with Batten families and also to keep people informed about the blog. The group page has a significant amount of members, although it is not as big as some of the pages that were created by Batten families. That is just fine with me. These families deserve all of the attention that their pages get because they are sharing their journey with all of us. I do appreciate the fact that my posts are seen by families within the Batten community as they often leave comments. These are SO appreciated because I feel like I am working on their behalf. Sometimes, I do wonder if my motives for doing what I do are questioned. I really am an honest person. I do not do this for monetary gain. If I was to do so, I would make sure that a very significant amount of the proceeds would go back into the Batten community or to research. I have not seriously considered doing this for profit because what I get from doing these stories is something that money just cannot buy.
Am I trying to gain notoriety and or acceptance by doing this? First of all, this is not anything that I ever planned to do. I have always worked in a production environment in Aerospace and Defense or in private industry. I now work in the aviation field as a mechanic. I never, in a million years, could have planned this. Let me just say this. I am not trying to gain notoriety but it is nice to be known. I am so touched by these stories and I am rewarded by knowing that people see the effort that goes into doing them. The parents need to be acknowledged also because of the effort it takes in providing the material to me. They write the stories through living out the details. There are so many people that are on social media whose time is spent honoring families that battle Batten Disease. I am sure that people that make up Batten families will acknowledge how important these folks are to them. Words are so powerful and I know how much kind words mean to the families. So am I trying to receive an additional level of acceptance by doing what I am doing as a writer? While it is nice to be accepted, that is not the reason that I write. I simply fell in love with these kids and their families as I continued to do these stories.
I sometimes comment out of ignorance or a lack of caution. I would ask that you would forgive me when I do. I know that I need to be responsible when I write and that I need to have my facts straight. This subject is very sensitive in nature and I know that I need to be careful and also very respectful. I hope that I have done this the majority of the time as it is always on my mind to do so. These kids just melt your heart if you allow yourself to be vulnerable to that. I have used words like “sacrifice” and phrases like “undying love” to describe the action of Batten parents and other family members. I wonder if Batten parents ever read these stories with skepticism as they to say to themselves, “we are just regular people. Quit with the drama!” Remember this. These stories are written from an outsiders point of view. That, with the help of those who have, or are, battling Batten Disease. There are different ways to handle the journey. Some just want to live a private life while others want people to know what it is like for them. Some are anxious to have their stories told by me or someone else. Others are like, “No thank you!” For yet others, it is just too difficult to talk about. They also have a piece of my heart!
The number of stories that I have been able to do has decreased as they have become more detailed. The amount is not as important as the quality of the story. You deserve the very best. Hopefully, you can see where my heart is at even though my level of experience is not as great as others. I was trying to do two stories a month in order to keep interest in the blog going. The way that I use this blog is out of the ordinary. Most blogs are shorter with entries made frequently. This one has stories that are equal to, or greater than full length magazine articles. I wouldn’t know how to do things differently at this point. I have thought about using the help of a Batten parent while serving as the editor. This way, I could have entries in between the larger stories. We will see what the future holds. Any idea?
Some people would criticize me for paying attention to the number of people that view the blog. If my only purpose for doing this was to honor the families that battle Batten Disease, that would be enough for me. That, in fact, is my primary reason behind what I do. Spreading awareness was never my first thought but the fact is that having this blog does help to do so. I view the numbers because they are made available to me by Weebly, the host of my blog site. Now there are some stories that see a huge spike in viewership all at once. This is because the family that the story is about is so well connected to the community in which they live. Sometimes, they have a huge presence on social media. Still, there are others whose stories get looked at gradually over a period of time. Either way, all of these families are part of the whole. We are not talking about a New York Times best seller here folks. People do look though and I am so pleased at times by what I see. You are all so special to me and I am honored to be involved in the small way that I am! What I really love to see is when I look at the total number of stories that get viewed in a month. It makes me happy when I see that a story that was written over a year ago is still being looked at. Even if it is only a small amount of views in a month. Page views for the last thirty days has been a little over 2500. Shortly before that it was closer to 3000. It fluctuates and a lot of those views are by people who frequent the blog. I am sure that many of those views are people that stumble upon the blog or who were told about it. The big point is that the blog increases awareness in some part and looking at the numbers provides me with some confirmation of that.
Batten families, I have poured myself into this and you are all always on my mind. I have served in the military and worked at jobs that support our nations defense. The helicopters that I support by working in my company’s overhaul department fight fires. I am a husband and a father of three. I am Benjamin’s Daddy and he is one of the most special guys you are ever going to meet (I am a little biased I suppose). Regardless of the number of people who know who I am, I do feel that I have never done anything as important as telling these stories. I still cannot wrap my head around it. What is it like to be a young adult whose big desire is to raise a family. All of a sudden, you are asked to travel down a road that you never knew existed. You all amaze me! Your level of devotion is truly inspirational.
My big intent for the blog is to just keep going with it for as long as it is practical for everyone involved. If I were never to write about another Batten child, I would consider this to have been the best thing that I have ever done. The fact is that there will be more on the way. More people have shown interest and the desire for me to continue is still there as well. This blog is my baby and my passion. Anybody that knows me is aware of that. These stories belong to the families they are written about as much as they belong to me. These stories are about your babies and I guard them in such a manner!
Some what of a funny story is how the content of the blog was developed. I chose Weebly’s free version as my host, originally to get started. You could find the stories if I first shared the link and that was good. Then, I found that I could have my own website domain and it really wasn’t that much in cost. That was the birth of gregster60.com. I was off and running so to speak. I was doing shorter stories at that time and incorporating beautiful pictures of these kids and their families. This, of course, helped to tell the story in a bigger way. I then remember that I was in the middle of posting a story and adding photos as I went. All of a sudden, I wasn’t able to add anymore pictures. I was outraged and then realized that I was going to have to “Upgrade” my package with Weebly. I was like, “You’ve got to be kidding me!” Well, the amount of money increased but they had me at that point. The yearly cost is certainly affordable. This in order to be able to do something that is my passion. Trust me, I spend a lot more on other things (I would spend more in a single weekend when I was still diving). What an amazing experience this has been for me. Maybe I shouldn’t be telling you that part but I am leading up to something and here it is.
Even if this were to come to an end for some reason, I would pay the small amount required to keep these stories in tact by keeping the domain on the worldwide web. I would do a story about Batten Disease itself and then invite people to look into the table of contents and to read about these kids and young adults. They are just the most beautiful of all human beings! Batten Disease really isn’t that rare. Is it? The definition of what makes a disease rare varies from one country to the next. In Europe a disease is defined as being rare when it involves fewer than 1 in every 2,000 people. Here in the USA a disease is considered to be rare when it involves fewer than 200,000 people. Really? As I continue to write, the number of places and countries where families reside continues to increase. Turkey, Greece, Scotland, the UK, South Africa, and so many different places here in America. Every story is unique even though some of the circumstances are shared across the globe. I have grown in my ability as I have continued to write. I can’t claim to be the best advocate that there ever was because I never will be that. That means that there is endless room for improvement.
The stories have gotten longer but many of the details have always been sweet. No matter what. At least they have been to me! Thank you so very much for putting up with me. Hopefully, I have done some good by what I am doing. I hope that 2019 is the most amazing year yet. Not just because of this blog, but more so because of progress towards a cure for all of the variants of Batten Disease. There is more work to be done and I will stay on it!
Dear families, I want to thank you for the opportuniy that I have been given by you to grow as a person. I have recieved a lot of compliments on my work by many of you. I was even called “The Famous Batten Blogger” and “Our Batten Blogger” by a couple of awesome Batten moms. I have been told that I am amazing several times but really, you are all the amazing ones. You write these stories as you care for these very special little warriors who are so deserving of that care. I only take what I am given by you and I put into print using as much care as I possibly can. This is always a team effort and I am humbled by the fact that I am allowed to take part. I am looking forward to being involved as long as I am allowed to be and for as long as I am able to be. There is more on the way and I am looking forward to it. Thank you once again and by the way, Happy New Year!!
Blogger and Advocate
“I truly love these beautiful children with every beat of my heart. I am an advocate for those with special needs and I am passionate about these children and their families. I will continue to follow them and I will advocate for them and their families until a cure is found!”
My good friend and
What is it about these kids? Not everyone that is told about children with Batten Disease will show an interest in their plight. Perhaps most will have a casual interest. I suppose many would be sympathetic. I know that I have seen a number of different responses when I tell people about the disease. I also get a mixture of responses when I tell people that I have been writing about the families that battle it. Some will think that what I do is interesting. Others will have a look on their face as if they are questioning why? What could I possibly gain from doing this? To sum it all up, it is about these kids. They do something to you. That is if you are the type to care enough to pay attention.
What does a person mean when they say that they have been changed by following the journey of a Batten child? It is often difficult to put into words the things that are felt by a person. I don’t know if I have done an adequate job of explaining the changes that have taken place in me since the time that I started to write about kids that battle Battens. I have some things to say about it but I thought that it would be nice to get some help with this. I asked my friend Christen Brawley to help me as I felt a little stuck at the time that I started to write this story. Like myself, Christen is the parent to a child with special needs. She, in fact, has two young sons who are autistic. Her life has been changed by caring for her own children but that is not all that has influenced her thinking. Christen would spend much of her childhood with a friend that had a disease named Lissencephaly. I will let you Google the condition on your own but I will say that Lissencephaly is most often fatal at a young age. Her friend, Jacinta, was only supposed to live until age two, however she would go on to live to the age of twenty-seven. Christen spent much of her young life helping in her friend’s care. Their time together taught Christen much about compassion and how to listen with your heart as her friend was mostly non-verbal. Words are not always needed to communicate. My point in sharing these things with you is that it was natural for Christen to fall in love with Batten children as she discovered her first Batten princess.
This would happen as she was seeking support for herself in raising her children. Her search for help included groups and pages on Facebook and that is when she would become aware. Christen would find and start to follow this little princess of a girl and it is amazing to read how her life was impacted by finding her. Here is what she had to say, “I was instantly drawn to this beautiful child. I could not get enough of her. Her beauty and her inner strength literally brought tears to my eyes the first time I saw her. I followed her everyday after that, cheering her on as she so courageously fought against the Batten monster. Relishing in the joys that she found in every single day. Her smile was bright and beautiful and it is forever etched into my consciousness. My first Batten girl. Oh, how special she was!” Christen would continue to speak about this princess and she would share her reaction when this much loved child was taken by the disease. Christen said, “I remember when she was making her transition into heaven. I cried reading every update. I was surprised at how emotional I became over a child I had never met. The sadness that engulfed me when she gained her wings was almost unbearable. All I could think about was how this beautiful girl had changed me. I had to know more. I had to see more of these gorgeous children.”
And so, Christen would continue to look for other kids to follow. She absolutely adores these children. The means by which she first became aware would be different than with myself but the result would be the same. Her first Batten princess would also be the one who made me aware and I have never been the same since that time. The way that I look at life and my position on this planet has changed. For example, I no longer draw my identity from what I do for a living. Following sport teams is just a source of entertainment when I have the time. I no longer sit and yell at the television while watching the news. I don’t do politically angry posts on Facebook any longer. I have better things to do with my time now. It would eventually be through these children that I would learn that I love to write and writing is what I will do until I am no longer able to do so. It has become my way to honor these children and also a means by which I can be their advocate.
Just like anyone else, I suppose that I have always noticed children when they are around but I now look at them more intently. I study the quality of their innocence and the contribution that they make. The joy that is expressed by them is without equal. Their lives are most often uninhibited by the stresses that are part of our everyday existence. They just enjoy their little lives so much as they absorb new information. Children sure have their ways of showing us that they are part of the human race but they also show us a quality of innocence that is unseen in the rest of us. With all this in mind, it is so disheartening when we see a child in distress. Whether it be a disadvantaged child in a third world country or one in a pediatric ward of a hospital that treats cancer, we do not like seeing them suffer.
So again, I ask the question. What is it about these kids? Speaking specifically now about children with Batten Disease. I think that it is their plight in combination with the qualities that I have mentioned above. Batten Disease is a highly degenerative disorder that is fatal. While there is some room for optimism, we know what the eventual outcome will be. The qualities of a child in combination with what is faced as a result of a disease like Battens just melts us inside. That is if we are the type that cares. Parents of Batten children are realists. They cling to the hope that a cure or treatment will be found as they also fight for their kids in a most unselfish manner. Their display of love and strong character is often the subject of what I write. They are strong for their children because they have to be. My level of respect and admiration for these parents is just off the chart. Christen sees the same things I do and that is why I have featured her in my introduction to my next story.
Kayla Neveri is a mom to a most beautiful little Batten princess. We were friends on Facebook previous to the Batten conference in Nashville but we were able to meet in person at that time. She expressed an interest in me writing about her daughter who is named Breanna and you just know that I would not pass up the opportunity to do so. Christen Brawley had not yet seen Breanna’s picture on Facebook until I posted it just prior to starting this next story. Upon seeing Breanna’s picture for the first time, she referred to Bree as a “REAL LIFE DOLL” (upper case added for emphasis). I couldn’t agree with her more on this because that is what Breanna is. She is Kayla’s Perfect Princess and this is her story.
It was in the midst of the years 2008 and 2009 that Scott Neveri and Kayla Green met while while working as security guards at a factory. As is sometimes the case, love stories begin at work. That is where Scott and Kayla’s story would start. They met after Kayla had been on the job for about six months. First they were just co-workers and then they would become friends. The friendship would lead to an attraction towards one another and they began to date. Scott and Kayla would really hit it off and found that they had like ideas and desires for the future. They would date for about a year and a half and then, Scott would ask Kayla to marry him. That would be in the beginning of 2010. Kayla would, of course, say yes and plans would be made. They had already been discussing a Birthday trip to Las Vegas when the subject of marriage came up and this would lead to an idea. Why not get married there? Is was cost effective for them to do it that way, and so, they did things Las Vegas style. Kayla would tell me that they would marry on May the 8th of 2010. With them was a maid of honor and a best man. Close friends and family attended too. Everything was perfect and they became man and wife!
Scott and Kayla were happy and enjoying their new life together. They discussed what they wanted for their future and like most couples, that included children. The couple would enjoy their time together for about six months and then they decided that it was time to start their family. Their plans would become a reality as they welcomed their first little bundle into the world. That bundle was a boy and they would name him Garrison. The little guy made his appearance on October the 4th of 2011 and he would go from adorable to handsome in no time at all. Scott and Kayla were oh, so happy and life was good! It wouldn’t be long after little Garrison came along that they decided he would need a sibling to grow with. Tried as they might, Kayla was not getting pregnant as easily the second time around. There were a lot of negative pregnancy tests and they would eventually decide to take a break from trying. In the meantime, they had their little man to enjoy along with enjoying one another.
It goes without saying that difficult times can come into everyone’s life. Kayla would experience a time like this, even as she enjoyed the experience of being a new mom. Her own mother, Brenda Lee Ruhland, would pass away at the young age of forty-four. How devastating this must have been. This happened in April of 2013. Brenda had oral cancer that quickly became bone cancer and it spread throughout. Not many things can be more difficult but Kayla and her family would persevere. They still desired to have a little brother or sister for Garrison and this would soon happen. It was a month after her mother’s passing that she did another pregnancy test. Kayla felt certain that she was pregnant and her suspicions were confirmed. She was going to have another baby! The sadness over losing her mother must have been eased a tiny bit by the joy of knowing that another baby was on the way. Once it was determined that they were going to have a girl, Scott and Kayla decided on the name Breanna Lee. The name was chosen in memory of Kayla’s mother. How very fitting!
Scott and Kayla were excited. They were going to have both a boy and a girl. How perfect is that! The pregnancy would go smoothly up until near the end of term but then a problem would develop. Little Breanna was due to make her entrance on the 27th of January in 2014 but she would not be able to wait until then. Kayla had gone to the doctor for a routine appointment and once there, it was determined that her blood pressure was very high. She had developed Preeclampsia. As was the case with Kayla, this condition develops in the later part of a woman’s pregnancy. It can be very serious if it goes undetected. And so, it was on January the 15th that the doctors would take action. Little Breanna would be delivered just as her big brother had been, by cesarean section. Breanna Lee was, oh, so perfect in appearance! She had all her fingers and toes and she was covered in brand new baby skin. Baby Breanna weighed seven pounds and two ounces at birth. She was just beautiful and she was so healthy.
Everything would go well with Breanna as she made her appearance but it didn’t go as well for Kayla. As the medical staff opened her up to deliver Breanna, they noted that some of Kayla’s organs had been fused together. Kayla said that it was a scary moment for everyone. This had to be fixed and so she would be put under in order to correct the issue. Her opportunity to hold her perfect princess was delayed until the time in which she would awake. Either way, I am sure that her reaction would have been the same. Intense love at first sight! Here is how she put it to me, “After I was fixed up I finally was able to hold my baby girl. I had no clue that the love of a parent grew bigger when it came to more kids. I was worried about how I was going to stretch the love I had for Garrison to Breanna, but quickly I realized my love would keep growing. Our family was finally complete.” Things at that point, must have been wonderful for this young family. There was a lot of love in the air as they welcomed Breanna into the world. A mom and a dad that loved each other and now, a boy plus a girl. How sweet is that! The future looked to be incredibly bright and who would argue that it was not?
Baby Breanna was not only beautiful. She was also very strong and quick to pick up new skills. Kayla said that Bree took her first steps when she was a little over nine months old. She was walking, running, and climbing by ten months of age. It was at ten months that Breanna would give her mom a little scare while also providing one of the cutest memories that you will ever hear of. Here is what Kayla told me about it, “When she was 10 months old, Breanna went ‘missing’ in the house. I was running around like a madman because I couldn’t find her. That’s when I heard a giggle come out of the bathroom. I found her standing on the tank of the toilet hiding behind the hand towel which was hanging above. That’s when I realized I had a Breannasaurus on hand.” Someone that is as big as a hand towel was already showing off her little personality and that little person inside was as sweet as could be. Brother Garrison, in the meantime, was growing into a great big bother. He loved his little sister and as Breanna grew, so did their love for one another. I am certain that the house was filled with laughter and innocent fun. That is what children do. They fill the house with fun while making priceless memories for their parents.
Breanna’s development was right on track. In fact, she was always ahead of other children her age. There was, however, something that Breanna was doing that got Kayla’s attention. It would happen when little Bree would fall. Kayla would notice a weird kind of leg jerk or twitch whenever Breanna would fall. It started to happen as soon as she learned to walk. It only happened a handful of times the first year of walking and it would only last for a second. Moms are amazing at picking things up that go unseen by others and such was the case with Kayla. She was the only one that would notice this as it happened. Kayla said that as Breanna turned two she was noticing that it was happening more. She tried to point it out to friends, family, and the pediatrician. Everyone thought that it was the startle of falling that was causing it. Whatever the reason, Kayla wasn’t worried because Breanna was developing as a normal toddler would. She was even ahead of schedule. Life would go on and Breanna was getting cuter by the day. Kayla continued to observe her princess as her development continued. As Breanna was approaching three years old, Kayla would notice something else. Breanna’s vocabulary was not as large as some of the kids. Then again, it was at the same level as some of the others.
Still, there were the leg twitches and the number was increasing with Breanna’s age. This was starting to cause Kayla to really become concerned. She was worried at this point. Finally, a cousin had seen the twitching as it happen when Breanna fell. That first sighting, according to Kayla, seemed to have a “snowball effect”. More people started to see it and as Kayla would put it, she no longer felt crazy! Kayla finally felt like she had something that she could take to the doctor in the way of a concern to be talked about. Before that though, a development would take place that would indicate that Breanna was beginning a journey. This would be a journey that no one would expect her to go on. That, because it was one that nobody knew existed. The journey that is Batten Disease. Concerning her and her family, Kayla would put it to me like this, “I had no clue what was going to hit us.”
Kayla remembers the date. It was the 22nd of March in 2017. An event would take place that would indicate what the future held for little Breanna and her family. Garrison had stayed home that day. He was sick with the stomach flu which included a fever. Breanna, who at that point had turned three years old in January, had caught the bug that evening. Kayla said that Breanna had a slight temperature of 100.8 degrees and she had been throwing up. Kayla, being an wonderful mom, was comforting Breanna by snuggling with her as she held her daughter on her chest. Little Bree was watching a movie on Kayla’s phone and had started to whine. She would do this when the movie was interrupted by another app that was opening on Kayla’s phone. I’ll quote Kayla directly here as she explains what would happen next, “So I looked at the phone to fix it and nothing was wrong with it. I started talking to her to calm her down because she had whined again. That’s when I looked at her. Her eyes were rolled completely backwards. She was unresponsive.” How scary this must have been for Kayla. She called out to Scott who came flying into the room to see what was happening. They thought that little Bree was maybe choking or experiencing cardiac arrest. This, as she stopped breathing and her face started to turn a bluish color. Scott then began CPR as Kayla called for help. The couple realized that Breanna was experiencing a seizure as she started to twitch after receiving CPR. She would seize for about twenty minutes and had stopped by the time that the ambulance arrived at the emergency room. As is the norm, the family would be at the emergency room for a couple of hours and as Kayla would put it little Bree would return to her normal “Breannasaurus” self. The medical staff called the event a febrile seizure, attributing it to the low grade fever that Breanna was experiencing with the flu.
Speaking of a “snowball effect”, this would just be the beginning of what this family would experience before an answer was found. The next occurrence would take place a week later as Breanna and Garrison were watching a movie in Kayla’s bedroom. Kayla heard a loud bang and went to see what was taking place. It would be better if I let her speak for herself. Here is what Kayla had to say, “That’s when I heard a loud bang and went into the room. Garrison said Breanna was climbing on a box and fell off. As I picked her up she went limp again and became unresponsive like the week prior. I called 911. By the time rescue arrived Breanna was 100 percent fine. She was telling them to leave her alone. She was running around the house like a nut. I felt nuts.”
You can tell from Kayla’s comments that this all had to weigh on her and Scott as things continued to develop. Still, they were just at the beginning of things. Kayla skipped taking Breanna to the ER when this took place but she took her to the pediatrician a couple of days later. While there, she mentioned the seizures and also the leg spasms. Upon hearing this, the doctor decided that little Bree needed to see a neurologist. However, another incident would take place before they could get to that appointment and it would happen two weeks after the first incident. Breanna had another long seizure and she was taken to the ER by ambulance. This all had to be part of what was becoming traumatic experience. What was taking place with little Bree, the princess of the family? Whatever it was that was going on was very serious. The neurologist would come to see Breanna while the family was at the hospital. She ordered an EEG, an MRI, as well as, other tests. Kayla said that when all was said and done, it was determined that Breanna had epilepsy and she was started on a seizure medication. This all seems too familiar to me after doing so many of these stories. I genuinely feel for each family that travels down this road. We are after all, talking about their babies.
It was after the third seizure that the leg twitching would become more frequent than before. Soon after that, Breanna was falling backwards and her body would twitch as she did. This would be a difficult thing for any mom to observe. Sometimes it was only a limb that would twitch and other times it was her entire body. Kayla said that the twitching would last anywhere from one to three seconds. The number of times that this would begin to happen would be most alarming. Breanna would do this at least one hundred times a day. Some days, it was more than that. Oh, my gosh!
It was between April and May of 2017 that more would transpire. The constant seizing would eventually lead to Breanna regressing in her level of function. A little girl that was at one time so quick to learn new things, was now regressing. One important example concerned the rock wall that the kid’s grandfather had built in the backyard next to the swing set. Breanna had, in fact, been the first child to learn how to use the wall. The weather had improved and the yard had dried out, so Kayla allowed the kids to go out and play. According to Kayla, Breanna tried to climb the wall but couldn’t. Here is how she put it to me, “I let the kids go play. Breanna tried her best to climb that wall and she couldn’t do it. It was as if she forgot what to do at first, then figured out the concept of it but it was like her body couldn’t do what her mind wanted. That’s when I knew something terrible was wrong. After that, I called her neurologist and she also agreed.”
As one might expect, the initial diagnosis of epilepsy would eventually prove to be too general for what was going on with Breanna. There had to be more to this and much to the family’s despair, they would one day find that to be the truth. Breanna would be referred to Milwaukee Children’s Hospital. Scott and Kayla’s princess would be there for quite a few days as several tests were performed, one of which was a 48 hour MRI. Kayla would tell me of a conversation that she overheard out in the hallway as this was all going on. A group of doctors were discussing which conditions they should be testing for and apparently, one of those was Batten Disease. Even so, the family would leave the hospital with no concrete answers as to what was going on with little Bree. Here is what Kayla had to say about it, “After that hospital stay, the doctors were at a loss. She still was diagnosed with epilepsy but the reason was unknown. I was told by one doctor ‘If it were serious it would have shown up by now’. Those words haunt me to this day. This was just the start of Breanna’s Batten journey.” And in fact, much more would happen. Breanna would continue to regress in her development skills and this had to be most concerning to those that love her.
Kayla said that eventually, Breanna’s speech was no longer at the level that was held by other kids her age. What was also very alarming was the fact that she had no fear of danger. She would go as far as to do things that could kill her. This included no fear of heights, water, or road traffic. The hospital visits would continue in abundance at this time. This would include tests and blood work. Near the end of 2017, genetic testing was recommended. Kayla said that four to five different doctors had requested that the testing be done for Breanna but this was declined by the family’s insurance company. She would go on to say that it was finally the genetics lab that did the hard work in getting the approval. On Thanksgiving of 2017 Breanna would have another large seizure while Kayla was home alone with the children. Regardless of what was causing the seizures, Kayla had become experience at handling them. Mr. Garrison also knew how to lend a hand. This family, however, really needed an answer as to what was going on and eventually, the answer would come. It was also that November that Breanna had blood drawn to be tested by the genetics lab. It would be just before Christmas of 2017 that the lab would contact the family because they wanted Scott and Kayla’s blood to be tested as well. Batten Disease is confirmed in a child when both parents are found to be carriers of the same defective gene.
They both reported to the genetics office for the blood draw and Kayla recalls what took place, “It was just before Christmas of 2017 that Scott and I were called into the genetics office and they had told us that they needed to test both Scott and I to confirm diagnosis. Scott didn’t want to know what the diagnosis could be until it was confirmed. I needed to know, so they had him leave the room while they told me the name. Late infantile Batten Disease is what they told me could be Breanna’s diagnosis if Scott and I are both carriers. I had never heard of it before so the second she left the room I googled it. I was in instant shock and crying. I didn’t expect to read what was written. But quickly I wiped the fear off my face because my husband was going to enter the room soon.” Kayla would not waste any time after that. She started reading about the disease and she would even find the BDSRA Facebook group while online. There, she started reading the stories of families who had children with the disease. Depression hit her as she already felt that she knew the truth. Kayla knew deep down inside that Breanna had Batten Disease.
Kayla had all of this information bottled up inside of her and it was more than she could bare alone. She decided to reach out to a few close family members for support. It was also just after Christmas that she would finally inform Scott as to what the diagnosis could possibly be. You see, Breanna is Kayla’s perfect princess but to her big strong daddy, Bree is his little peanut. As the New Year came, so did the knowledge that would bring the answer that was expected. It was January the 3rd of 2018 (12 days before Breanna’s Birthday) and Kayla was out grocery shopping for the family. She received a call from the genetics lab that she knew would be important. The lady at the lab asked Kayla if she was somewhere safe and free to talk. She could wait no longer, so Kayla told her that she was. I will let Kayla take it from here, “That’s when she informed me that our results came back. Scotty and I were both carriers and Breanna had Late Infantile Batten Disease (CLN2). In a state of shock, I finished our conversation which I no longer remember much of. I finished my grocery shopping and went to my car and cried. The details are kind of blurry as to how things happened but once I was done crying, I went home to talk to my husband and tell him the things I had been informed of. Since I had time to process and learn about this disease it wasn’t a shock in the way it was the first time I looked it up. But, it was the fact it was confirmed. My baby girl had this monster in her and it would take away everything about her before taking her away from this world. This, before her teenage years and I couldn’t save her.”
It seems like the initial space in time after receiving the diagnosis is always the worst part of the the beginning for Batten parents. That is what it was like for Kayla. There was, however, help on the way and it would come quickly. Here is more of what she had to say, “I felt lost. I had a gaping hole in my heart and I didn’t know how to fix it. So, a couple days after the diagnosis I finally had the courage to reach out on the BDSRA Facebook page for help. I was overwhelmed with love, support, and help. I now have a new family in the Batten community that I’m grateful was there in one of my most vulnerable moments. They helped pick up some the pieces and fill some of that gaping hole.”
The importance of the help that is available for these families through the Batten Disease Support and Research Association (BDSRA) and through other families via social media cannot be over emphasize. Compared to many, Kayla’s search for answers wasn’t as traumatic as it could have been. The speed at which she received help was critically important (I will explain further in a moment). Kayla said that most of the doctors that she has met have never heard of Batten Disease. Some knew the name but not the details and many used Google to learn more. In the case of the genetics department, they knew the name and had knowledge of the disease but they didn’t know where to direct the family after the diagnosis was given. It does seem that they did a fantastic job of helping this family get the answer they sought in a timely manner. Well done! Kayla would also say that she has found those in the medical community to be most sympathetic and sensitive after being filled in on the details. One look at little Bree is all it takes!
Again, Kayla found the BDSRA Facebook group something to be very grateful for. If not for this group of people the search for help could have been long and traumatic. She said that her plea for help was handled very quickly. Two couples that she was quick to mention were Allen and Vanessa Severance and Tracy and Jennifer VanHoutan. Both families are fantastic ambassadors within the Batten community. They are largely responsible for the speed at which the Neveri family would learn about a life changing treatment and a physician named Dr. Berry-Kravis at Rush University Medical Center in Chicago. Most people that follow Batten families know of the enzyme replacement therapy that is available for kids that have the CLN2 variant. It uses a drug that takes the place of a missing enzyme in the child’s brain and the trial has been very successful. This gives the child the ability to live a much more ‘normal’ life as it slows the progression of the disease in a most dramatic fashion. These little people are so amazing to me. Breanna had her 23rd treatment on December the 5th of this year and she is rocking the house with them. Little Bree’s port to her brain was put into place on January the 3rd of 2018 and her first treatment took place shortly thereafter. The entire process would actually be quick and go smoothly. This, although the days must have crept by for Scott and Kayla. There have of course, been complications along the way as Batten Disease can be so unpredictable in nature. Breanna became ill with a cold in September of this year and as a result, she refused to eat or drink. Her refusal or inability to eat and drink would lead to her getting a feeding tube put in place. This was necessary for her to get the nutrients that she needs even though she still enjoys snack foods like popcorn or chips.
There is no way that Kayla could have predicted what was going to take place in her life but both her and Scott are meeting the challenges. Kayla said that the experience has changed her 100 percent. It has been just shy of two years since she witnessed her first seizure and Kayla realizes that she now knows how to respond to any type that Breanna might experience. She is able to change little Bree’s feeding tube like a professional and she can handle medical equipment and different situations as they occur. Scott and Kayla are parents to a special needs child of the most beautiful kind. Kayla shares what she has learned about a world that involves those who are dependent on us for assistance, “I’ve also learned SO many things about the disability world that I had no clue about. I didn’t understand just how hard it could be get life saving treatments. Or, how expensive medical equipment, treatments and medication truly were. It's a huge eye opener, and I hope one day to help with making changes. I want to help make things easier for people with disabilities. Even if it’s just providing medical equipment faster or educating people about Batten Disease.”
Kayla would share what is felt by all parents with children that battle Battens. The disease is a monster that first takes away a child’s ability to function at the same level as their peers. It is painful to watch your child regress in areas of development right before your eyes. Kayla would share that Breanna went from being an average three year old to one who was unable to keep up with other kids her age. This happened in less than a year. I know that the Neveri’s are grateful that enzyme replacement is available for their child. This gives them time as they wait and hope for additional treatments and even a cure. As a family, they have been through changes as a result of facing the monster that is Battens. Kayla shared the following to describe the changes that have taken place in them as a family, “It (Batten Disease) tore us down, but with the tearing down we found a strength we never knew was in us and it brought us closer together.” And that is exactly what should happen. Struggles like this disease should draw people closer together. Again, you never know how strong you can be until being strong is the only choice that you have.
Kayla shared about what life is like at the Neveri house, “Our life includes having lots of unknowns. It’s full of doctor appointments, medications, and medical equipment. But, it’s also full of laughter, dancing, and love.” I shared earlier that little Breanna is having difficulties in eating regular food but she loves to eat snack foods like chips and especially, popcorn. Kayla has gotten around to creating a group Facebook page for Breanna and she gave it an interesting name. Most of the pages that parents create will include the child’s name and perhaps a word such as “battle” or “journey”. Breanna’s page is different and I was a little curious as to why Kayla had given it the name that she did. I found the answer as she shared with me a bit about the things that they now consider to be important. When she did, it became one of those “Oh My Gosh” moments for me. This is what she said, “The things we used to take for granted are now things we cherish. Like those trails of popcorn. I used to clean them up right away, now I’m finding myself taking pictures of them.” The page that Kayla created to share Breanna’s journey with the public is named “Trails Of Popcorn”. Does that get to you like it did me? My prayer would be that those trails continue to show up on the floor for a long time to come.
They would and should be just your average family. That would be the case if it wasn’t for Batten Disease. Scott appears to be a big bear of a man but I bet he is the type you could call a gentle giant. A sensitive guy who cares deeply about his wife and his children. That’s a good thing! I loved having a few minutes to get to know Kayla at the Batten conference. She is another of a growing number of people on my awesome mom list. I bet she would give anything to be just ordinary again. I asked Kayla for a little bit of information about big brother Garrison who is now seven years old. She started by telling me that he is smart, funny, and handsome. She also told me that Garrison is a softy even though he is big and tall for his age. He loves art and storytelling and in fact, he is a talent when it comes to both. Garrison is a great big brother and he is best buddies with little Bree. Garrison has noticed the changes that have taken place with Breanna. He has grown in his understanding of Breanna’s situation but he still has questions as to why things are not the same as they use to be. I know that he loves his little sister an I am glad that Breanna has a big brother like Garrison!
Every family has difficulties but this family is facing something that is very challenging on an emotional level. I said at the beginning that there is something special about these kids. Can you see that too? They really tug at your heartstrings. There will be more challenges ahead for the Neveri family but they will do their best to meet everyone of them. This, because of their love for such an angelic little person as is Breanna. Hope and love carries them through each day and Kayla talked a little about that as she shared all of the following, “Our love for Breanna is strong and never ending. Some times Batten Disease gets the best of all of us, but the love we have trumps it all. Because each Batten kiddo is different, it’s hard to know exactly how the future will play out. So, we live in the now. We make as many good memories for Breanna and the rest of us as we can. We do many fun things as a family. Our hope is that a cure is to come soon. Or at least more treatments that let Breanna be her truest self. Where she can enjoy life without pain or regression. Life with Battens has introduced us to many, many challenges. Growing up my mom always said “Fake it ‘till you make it”. It’s a motto that I often find myself saying to myself. Most of the time we aren’t handling the challenges, but we sure know how to keep that smile on our face and keep going. Changes happen so often that once you have a handle on things. It changes on you. As parents you need to learn to adapt to the challenges.”
My friend Christen referred to Breanna as a “Real Life Doll” and she is correct in saying that she is. Breanna is her daddy’s little peanut and her momma’s perfect princess. Her eyes are beautiful. They are so deeply brown that they sometimes appear to be black. That is what stands out the most to me but it doesn’t end there. Kids are meant to be adored and they most often are. That is why it hurts so much to see them battle something like Batten Disease. Research and a cure needs to be a priority but telling people about these little warriors needs to be one also. It is a priority with me and it will be for as long as I am able to make it one. Just like Christen, I am passionate about these kids. I wish the Neveri family all the best and I feel privileged to be allowed to tell their story.
Blogger and Advocate
There is more that needs to be said. I had written this story over the span of an entire month as it was a challenge between work and the pending holiday. I had written it after viewing just a few of Breanna’s most recent pics. Upon being close to finishing, I requested pictures from Kayla and she sent what you see in the post. The story may have been written a little differently had I seen these pictures before starting to write. It may have been written with a little more passion and emotion, although I always try to capture my own feelings as I write. I really am moved by these stories but I was moved to tears when looking at all of these pics at the same time as they paint a picture all by themselves. What do you see? I see a family that is a perfect little story in progress. The dad is ruggedly handsome and mom is of course, young and attractive. Together, they have two children to make up what a lot of us would consider to be the perfect size family. Tragically, something happens that interrupts and changes the story. It involves a monster named Batten Disease. This is so typical with Batten families.
What I see from a distance is what I often talk about. Batten parents are stuck in the middle of the muck and the mire as they watch the disease progress. They are in a battle named Batten Disease. What I see from a distance are the details of undying love and sacrificial care. The depth of love that is often modeled by these families is, for the most part, without equal. I HATE Batten Disease because of what it does to children and for the way it affects families. I do though, truly love these children and their families whether that is always welcomed or not. I am so happy that some very wonderful things have taken place in the area of research and clinical trials. Finally, some real hope is in the air but everyone who follows these kids will tell you that it has taken too long. I am glad that Breanna is involved in one of these trials. She takes your breath away. Does she not?
Nobody will impact this family like Breanna will. This, both with close family and extended. Her life is priceless. People will be changed because of her. You can count on that! Breanna, you keep fighting like the little warrior princess that you are! I could go on but I better stop now. Thanks for taking the time...
“It always stuns me that the Batten children are ALWAYS beautiful and glowing with such light and love reflected in their faces!! I seriously have a soft spot in my heart for every single Batten child. Rex, our very special angel, taught me a new kind of pure love.”
~Tina Halyama Emery~
Home Healthcare Nurse
The question was “why us” and it came from Christopher Velona. Most people know my long distance friend Christopher from Project Sebastian. People who know him, know that his son Sebastian battles the CLN8 variant of Batten Disease. You also know that Christopher has done everything in his power to help his son in the battle that is Battens (He, of course, has not been alone in this). One of the things that Christopher has done as of late is to start doing podcasts in conjunction with his other activities for Project Sebastian. I don’t know why he chose me to be his inaugural guest, but he did, and I was honored that I was chosen by him. We started the taping by talking about me and my wife Rosie’s life as parents to our special needs son Benjamin. Then we went on to talk about my involvement in the Batten community and why it is that I do what I do. I can’t remember exactly how he worded the question but it was something along the lines of, why? Why us, meaning the Batten community. Why am I doing what I am doing as an advocate? Why do I take the time to interact with Batten families, and why do I devote so much time to writing these stories in my blog? Why have I chosen the Batten community in particular?
The answer to that last question is that I didn’t choose to do this. It was just that through a set of very important circumstances that I first became aware of these beautiful kids that battle Batten Disease. Through this, a passion for them and their family’s stories was ignited. To me, it is so unlikely that I would learn about Batten Disease by following the legacy of a Navy SEAL, but I did. He wasn’t just any SEAL, although they are all amazing! Facebook and, social media in general, has taken a bad wrap at times. Sometimes, deservedly so. However, in many cases social media has been a force for good! A series of Facebook pages that led me to an underwater memorial dedicated to the legacy of this Navy SEAL would also lead me to becoming aware. My sensitivity towards people with special needs lended itself to a sensitivity to children with Batten Disease. I first began to write by writing about following this SEAL’s legacy all the way to his hometown. It was there that I also met a very special Batten princess. After that, one thing led to another.
I am a person that is driven by passion and once I started to write, the entire thing just blossomed into something special. This gave me a way to be involved in a community that I have grown to love and respect greatly. Greater awareness concerning Batten Disease was not my first thought but I think that the blog has helped with that. What happened was that I was so moved by the details of what I was writing that it continued to feed this new found passion that I have. Not only this, but the passion was fed by the appreciation that I have been shown by the families. I have repeated myself over and over again when it comes to the things that I see in the Batten community as a whole. That is so easy to do because it takes a certain type of character in a person in order to devote one’s self to the care of these children. Undying love in the face of adversity. I Understand that I am on the outside looking in and my perspective often reflects that. How difficult is it to move forward each day, knowing the eventual outcome? Deciding that you are going to do your very best in the worst situation, heartbroken and yet, resolute. What is it like to look into the face of your child each day? This, as you battle the disease together. These children seem more special than any other because of the circumstances that surround them. The whole thing just makes my heart melt inside of me.
These things weigh in heavily into this next story. There is more before we get started though, and it has to do with the Batten community as a whole. I have talked about this on several occasions. I was able to see from my activity online that the people that make up the community were very special to one another. Sure, there will always be some who will not get along but I think that this is in the minority. Being at this year’s Batten conference and seeing this group of people in person was an amazing experience for me. What is it like to experience the feelings of loneliness that comes with the diagnoses? You return home and eventually find out that you are part of a community that exist worldwide. There are others that know exactly what you have just experienced. They also know what you will go through in your journey. My next story is about a mom who went through great lengths, literally, to be at this year’s conference. This, only a short time after learning that her daughter had Batten Disease. Like many others, the answer came after a long search and several wrong diagnoses. She felt that it was so important to be at the conference and I can certainly understand why.
Laura Johnson had experienced the trauma of receiving the news that her daughter Hannah has Batten Disease and she wanted to be with others that could understand what she was facing. I had met Laura online through Facebook, of course. I knew that she was a Batten mom but I didn’t know much about her as we had just gotten acquainted. I saw that she had set up a gofundme account and that she was seeking help for getting to the conference. As it was approaching quickly, she still was not sure at that time as to whether or not she would make it to Nashville. As for me, I had made my way there and found myself at the Airport Marriott hotel. There were so many people at the conference and it would be impossible to meet everyone. I was able to spend time with most of the people that I already knew and it was especially nice to spend meal time together. As I was leaving after dinner on one of the first nights there, I took a random path through the dining room in order to exit. This particular path led me to a table that included a mom with her daughter and the mom greeted me with a warm smile. It was Laura and Hannah! It is very possible that had we not crossed paths at that point that we may have never met, but we did. I loved meeting them, along with many of the others, and we would go on to spend a few moments together on a few occasions after that.
One of the reasons why I do what I do is because I think so highly of people like Laura. She received what she needed to attend the conference just in time to get moving. Laura rented a car and her and Hannah would drive thirty hours straight to get there. To me, that is amazing as I don’t think that I would be capable of doing that myself. In the blog that I did about attending the conference, I had given the title of Tiger Momma to Laura. I meant to use her as an example of the many that represent moms in the Batten community. Moms that persevere and do whatever it takes. Always putting the interest of their child before themselves. Laura would tell you that she is just in survival mode and that she was just doing what was instinctive. I am telling you that what I see from the outside looking in is that she is amazing. Me and Laura talked about the blog and the possibility of doing her’s and Hannah’s story. To this, she said yes and so here we go!
Laura hadn’t been opposed to the idea of having children but she didn’t expect it to happen so soon. She and her future husband, who was serving in the military, had eloped. They had plans for saving and having a real wedding, with a reception, a year later. However, the news that she was pregnant with their first child changed all of that. Laura had never babysat or changed a diaper in her life and this left her worried. How was she going to care for a baby? After all, she wanted to get things right and so Laura read every baby book in the library in order to prepare herself. Talk about training through correspondence!
Having children and raising them is a life changer for sure. Laura had no idea at the time as to how this first baby would impact her life, but that was a fact in the making. She would deliver her baby at Balboa Naval medical center in San Diego, California as her husband was in the Coast Guard. They would have a baby girl and named her Hannah. The baby was born close to her due date and the day that she entered this world was September the 16th of 2003. It was after midnight that she would make her entrance and she was oh, so beautiful. She had all her fingers and toes and she was covered in brand new baby skin. Her first cry was loud and strong as she was so healthy! Neighbors were nervous as to how cool Laura was under pressure. Labor would take twenty hours and during that time, she could be seen painting her nails. This, because she didn’t want them to look bad when everyone came to see her newborn baby.
A small indication of what Hannah’s personality would be like came at the very beginning as they placed her on Laura’s chest. Hannah started to nurse right away. She would go on to be so strong and good at nursing that she actually would injure her mom in that way. Laura would have to endure this for a good year. This, because she wanted to continue nursing Hannah for as long as she could for the best start possible. The way that Hannah took to nursing would not be the only way in which she would show mom how quick she was. Hannah had a slight fever at birth and so the hospital staff kept her for three days. Seeing that they were new at this, Hannah’s parents liked this as they felt it would be good to have some back up early on. The nurses had wheeled one of those clear plastic boxes, used for a crib, into the room but Laura refused to allow Hannah to leave her arms. They would scold her for this but Laura stood her ground. Hannah was eight pounds and twelve ounces at birth and she was gaining weight already by the time they left the hospital. The nurses said that this never happens but it could be attributed to Hannah’s ability to nurse so well right after birth. Hannah would go on to be in the 99th percentile in height and weight her whole life. That though, was not the only way in which you could consider her to be exceptional.
Laura said that her baby girl was so striking although she was slightly annoyed by her daughter’s appearance. What? You see, she had carried Hannah all that time and Laura felt that she was supposed to look like her. However, Hannah was a mini-me to her dad. She had bright blue eyes and pitch black hair. Nevertheless, Laura loved her newborn baby and she was going to give motherhood everything that she had to give. As it is with most young military families, there is not a lot of extra money to spare. The young couple would leave the hospital with their newborn baby girl in a small Nissan truck. The three of them barely fit into it as little Hannah’s car seat took up a lot of space. They would take Hannah home to her first apartment which would be in Ocean Beach. This was in the greater San Diego area where Hannah would begin her life as a beach baby. Hannah would continue her development and she would have no fear as she grew. The couple would frequently take her to Dog Beach with them. Hannah was completely comfortable with the water and the huge dogs that were there. Again, Hannah was a big girl for her age. Laura said that the pediatrician would match up the rolls on her legs to make sure that they were developing equally. She joked that Hannah looked so much like a very small Stay Puft Marshmallow man!
Laura stated that Hannah would go on to meet most of her early milestones of development. The only exception was walking. In this area, she would not take flight until age fourteen months. Laura is quick to admit that, as a new mom, she didn’t know all the do’s and don'ts of parenting. This is how she would put it, “I was an overachiever mom, catching her when she fell, and giving her what she wanted when she grunted. I didn't know any better when I was a new mom.” Perhaps the only other thing that was noticed to be a little different in Hannah was in the area of her speech. Some of her words would come out sounding funny but that often happens with children as they are developing.
Laura said that Hannah would not tolerate a hearing test. This, to check to see if her speech problems were related to her hearing. As Hannah grew, it was apparent that she was extremely intelligent. Laura said that for example, she knew how to change the disc in the DVD player when she was still in diapers. It was noted by teachers that she was in the top of her class in preschool. Laura said that she had potty trained Hannah in two days. She was enrolled on Friday and started school on Monday in regular underclothes. No diaper! She would remain at the top of her class all throughout early education. You could only imagine the level of pride that was felt by all of those who loved Hannah. Not only was Hannah smart but she was determined and also beautiful. Here is more of what Laura had to say, “She was so smart and so beautiful, and also, very independent. She would never hold my hand crossing the street. I felt like a failed mom, not being able to get her to hold my hand.”
There was no reason to believe anything other than that Hannah’s future was packed full of potential. This, even with the slow start in the couple of areas that she would overcome. The future looked nothing but bright. Hannah was so sweet and so much fun from a very early age. She amazed her mother and all others who took notice of her. Even with Hannah’s independent attitude she was, overall, very well behaved. However, like the rest of us, she wasn’t perfect. Laura recalls one situation in which Hannah felt that she would take care of business when a situation in preschool arose. It happened after being picked on all throughout the day by a little boy named Tupac. It must have been at the final recess of the day. Hannah had thought about how she might handle Tupac and as a result she laid in wait at the tunnel that was next to the slide. She decided that she would clean Tupac’s clock and by doing so in the tunnel her crime would go unnoticed. She was successful in taking care of Tupac but somehow, the staff would find out and Hannah would wind up in the principal's office. This is where Laura would pick her up at the end of the day. I am sure that Tupac learned his lesson. Don’t mess with Hannah. How cute!
Hannah would also do the cutest things. Part of the families existence early on included having to move frequently. This was due to Hannah’s daddy’s military service. Hannah would observe her mom as she packed bags and dragged them to the front door. Hannah, being as smart as she was, would copy her mommy. It would be moving time and there was Hannah in her diaper, dragging her little bags to the door. There were many ways in which Hannah stood out as a child. One area was her ability to predict when women are pregnant. Laura stated that Hannah, in fact, had a sixth sense when it comes to this. According to Laura, Hannah, who was three years old, had informed her that Laura was expecting. Laura didn’t even know at the time but she was pregnant with Hannah’s little brother. In another case, Hannah had broken the news to Laura’s sister that she was expecting twins and she provided details with the news. She new that one twin would be a girl and one would be a boy. She also predicted that the girl would be born first, and she in fact was correct.That, is down right spooky!
Laura was not the type to just sit around. She has always been active in furthering her education by attending college, and various other classes. She would actually bring Hannah with her to classes and that shows real commitment. Laura attended so many classes that she started to stack up credits and would eventually apply most of them to an AA degree in Liberal Arts. It didn’t matter where they had moved to. She would be in school and gained all of her credits by attending as many as four different colleges. Moving didn’t stop her. Laura would later become very involved in physical fitness and she would, as an example, one day even become a Zumba instructor. She also would receive her certification as a volunteer emergency medical technician. The skills that she learned would actually help her save her own daughter’s life one time when Hannah was choking. Laura would admit, though, that it wasn’t a good career choice. This, because she isn’t good around blood. Yes, that is important in that line of work.
As Hannah continued to grow, it was easy to see her charm and beauty. She was so full of promise and personality. Her independence and strong will would lead one to believe that she would be successful in whatever she chose to do with her life. She was full of life and was so much fun to be with. Why would all of these great character traits not continue to develop in her as she continued to grow. I have stated the following so many times in the past. There is no love like that which exists between a mother and her child. I believe that to be especially true when it comes to a mother and her daughter. As one would expect, the bond between Hannah and her mom was especially close. Hannah would, however, have to share the love that was felt for her with a new sibling. Her new little brother James came into this world when Hannah was three and a half years old. Their little family now seemed to be well rounded and complete. A girl and a boy! Every family has its challenges along the way. Financial challenges, for example, are always a big concern. Health issues can be also. For children, there are always the usual bumps and bruises along the way. Operations to fix defects or maybe a broken bone may have to be set. Those things are normal and we expect them to happen. Although, we do not look forward to those types of events.
We normally think of marriage as being a lifelong commitment. I don’t think that anyone steps into marriage thinking anything else, however, things don’t always go as planned. People change and we are sometimes changed by circumstances that we don’t expect to happen. Kids are affected by separation and divorce but sometimes, it can’t be avoided. When it comes to these stories, the kids that battle Battens are always the focus but life doesn’t stop for the disease. By that, I mean that other things happen around us and often, they take place before a diagnosis is found. Sometimes things happen after the diagnosis, or even, as a result of the added stress. It is never my intent to assess blame or to decide who has the greater responsibility. The circumstances related to a divorce do impact a story greatly though when that story is about a child. Laura’s marriage was a troubled one and it would not last. The worst part was that she would find herself in a situation where she would have shared custody of the children. To further complicate things, custody was shared across state lines and from a great distance. The situation was a complicated one and it left Laura with only having her children in the summer and on holidays. Why would I even bring this up? It is because this story is about the love that exists between a mother and her daughter. That being Laura and Hannah. Much of the time, they were separated by several hundred miles of interstate highway. Hannah was less than five years old when this began. Her little brother was only a year and a half year in age. Oh, my gosh! How stressful this must have been for all that were involved.
Laura said that she would often return home to California with tears streaming down her face. A young mom without her children. I cannot imagine! I suppose that there is much more that could be written about Hannah’s life during the dark years of partial separation but much is lost because of the time away. I am sure that there are many sweet details that could be shared from the time that her and Laura had together. The focus here though, will shift to the challenges. It had to be at about the age of seven to eight years old that Hannah started to change. She started to exhibit signs that something was developing in her. Something that took her outside the normal range health for kids her age. Hannah was healthy when it came to illness. She didn’t catch colds easily, for example, as others might. There was, however, behavioral issues involved with her. Laura said that Hannah had a family practitioner that she was seeing while at her dad's house and that he had misdiagnosed her four times. ADHD was the first diagnosis. That one is usually the first to be thrown at kids who exhibit problems or behavioral issues. Then it was Autism and later, Asperger’s Syndrome. This happened over the seven years that Hannah was separated from Laura. During that time, Hannah was prescribed one medication after another. None of these solved the problem. Eventually, Laura would take Hannah to the Autism Assessment Center for Excellence in San Bernardino. While there, it was determined that Hannah did not have Autism.To be fair, doctors don’t always know what to do when the puzzle is a difficult one to put together. I think that the best doctors are those that are good at solving problems. They take a real interest in a child and they also know when the child needs to be referred to a specialist.
Hannah would experience her first seizure when she was eleven years old. This happened after being up late while having a slumber party. Laura said that the seizures were not very frequent but also, that she couldn’t be sure. This because Hannah was not with her full-time. It was about the same time, at eleven years old, that Hannah came home from her dad’s with glasses on. Why now? She had never had vision problems before. One of the things that caused Laura to become concerned early on was when she would ask Hannah to get something out of her room. She would return repeatedly empty handed and Laura chalked it up to a behavioural issue. It was, however, related to a loss of vision. Laura would find out later that Hannah couldn’t see. According to her, Hannah was hiding this from them because Hannah thought that they would love her less if she wasn’t perfect. Laura said that she, personally, was devastated when she found this out. I am sure that the situation was complicated by the fact that Hannah was living in two different places during each year after her parents separated. So it was over a seven year period that Hannah was either misdiagnosed or undiagnosed but things would soon change. Laura did not know what was taking place in her daughter. Whatever it was, it was delaying Hannah’s development. Laura kept investigating and would consult different specialists as she looked for answers. Something wasn’t right and her daughter was being taken from her by something. Something that she did not yet know existed. Meanwhile, Hannah’s father would become angry with Laura over the fact that she was not accepting the diagnosis from the out of state family doctor. Hannah was just being given medication and Laura knew that there was more going on than what was being discussed.
And, it was at this time that Hannah was becoming more difficult while at her father’s house. Laura said that as she started losing her vision she would get stuck on the way home from school. This, as she walked alone after getting off of the bus. She would even get stuck on the wrong side of snow berms. Hannah would call out for her mom frantically. You could only imagine that Laura was frantic as well. Knowing that her daughter may not be getting what she needed. Hannah knew what she needed, and that was HER MOTHER! Hannah would tell anyone that would listen. Teachers, doctors, nurses, anyone! She was always asking for her mother, as well as, trying to call her. As a result, she was just becoming hard to handle. My heart aches as I write this part. It was just the best thing for everyone involved that she would be with her mom full-time. And so, she was reunited with Laura! There is no love like a mother’s love. Especially when we are talking about a mother and her daughter. For whatever Hannah had going on, she needed special attention.
As has already been stated, Laura would not stop until she had the answer as to what was happening with Hannah. She continued to seek the help of specialists and that would eventually lead her and Hannah to a geneticist. Tests would be performed and the answer was found. Hannah had CLN3, Juvenile Batten Disease. So as it most often is with Juvenile Battens, there is a long search and a tendency to think that the conclusion is obvious, i.e., several false diagnoses. In saying this, I don’t mean to indict any one parent or health professional. Moms have a special intuition that cannot be ignored or denied. Laura had the answer that she sought but it was not one that any parent would want to find out about. The devastation that followed came from learning about something that Laura never knew existed. Batten Disease. This is how she put it to me, “It was truly traumatic. Nobody had ever heard of this.” She continued to explain in another place concerning her reaction and the effect that that the news had on her, “I couldn't believe it. I cried for two months. I felt just like I did when my mom died. I am not really here. I am just Hannah’s caregiver. I can’t hear what she is saying. I am grieving so hard already.”
Already grieving as if she had lost Hannah and yet functional in Hannah’s care. These comments come from a mom that would do anything and everything in order to help her daughter. I know from following Laura and Hannah’s story that she would regroup as best as she could and she now provides daily, the best quality of life possible for Hannah. Yes, emotions run high at times but it is so easy to see the love connection that exists between this special mom and daughter. Laura had a huge smile on her face when we met at the conference. There must have been a big mixture of emotions behind that smile. Her long drive to get to there shows a deep level of commitment to Hannah. It also shows the need to be connected to the others that make up the Batten community. This, because only they can truly understand what she is going through. Laura stated, in so many words, that finding a physician that truly cares is difficult to come by. They are out there though! She would meet one at the conference that she would love to have for Hannah. The fact that Laura found this doctor there at the conference speaks volumes.
The continuous driving that Laura would do in order to be with her children had conditioned her for the drive to the conference. It would be only a short time after Hannah’s diagnoses that they would find their way to Nashville and I am so glad that they did. I know that Hannah has her bad days and I am sure that she is often frustrated as she goes through changes because of the disease. She is so sweet. It was special to be able to meet these two. Hannah was quiet and soft spoken. I could tell that she was happy to be there and I know that she was made to feel welcome by those who cared for her. These, after all, are people that understand. Hannah was so happy to show off the things that she was making in craft time and she was such a pleasure to talk to.
These kids should be fussed over because they are truly special. What a dear she is! Hannah and her mom, as well as, the entire Batten community are the reason why I am writing at this time. It started with the love I felt for one little girl and her mom. This soon spread to an entire community and I feel privileged by every story that I am allowed to write.
Laura is a very bright and intelligent person. That is easy to see by what she has already accomplished in life. This leads to a question. What would Laura be able to accomplish if she was not struggling with Hannah’s disease? You see, this is the type of thing that I have talked about when I have mentioned the sacrifices that Batten parents are often asked to make for their children. This is especially true when we are talking about single moms that cannot work full-time, and sometimes not at all. For Laura, it is a struggle to pay bills and to keep a roof over her’s and Hannah’s head. She has been advised by some to put Hannah in a full-time care facility. Laura stated the fact that this is too difficult and too expensive. She would go on to say that which I already knew to be the true of her, “ I cannot give up. I will serve her selflessly until I die.”
Laura has gotten some really amazing moral support from her boyfriend who regularly spends time with her and Hannah. I love it when I here about men that step up to the plate (a baseball term), so to speak. There are so many men that would see a situation like Laura’s and say, no thanks! You already know how I feel about things and it is so nice to see another guy that feels the same way. What’s his name? You’ll never know because he chooses to remain anonymous. An unsung hero. Laura says that his life has been greatly affected by Hannah’s life. Just like I thought. Being around these kids can change a person. They make yours heart go pitter patter. That is if you are the right type of person. Life can be stressful in such a situation as Laura’s and her boyfriend chooses to stay in her life in spite of the stress that exists. Laura would actually tell him that he should leave for his own sake but he refuses to do so. She puts it like this, “I have asked him to leave, to save himself, for his own sanity. But he stays with me for mine.” He has even stayed although it may have kept him from maintaining certain career objectives. Together, they enjoy taking Hannah on outings to places like Lake Havasu for some fun in the water.
I have said it before but I will repeat. I believe that these kids come into people's lives for a reason. Then again, it would be so easy for me to say something like that. I am a proud parent to an adult special needs person but I have never experienced what a Batten parent has. The journey brings with it many special memories but it also brings a ton of heartache as changes take place. Laura had the following to say about her daughter, “Hannah is so bright and so determined. She would be a force worth reckoning with if not for this fatal detrimental disease. She was at the top of her class until the disease started taking effect. It is awful and nobody knows our pain, not even close family.”
In another place, she talks about Hannah’s resilience, “She has an active imagination and loves to play with toys. She does her own research on YouTube on batten disease and toys she would like to own.”
Laura enjoys working at a ranch that uses horses as therapy for kids with special needs. It is called T.H.E. center ranch (stands for therapeutic handicapable equestrian). Hannah received a scholarship after the nine months that it took to complete the process. She now gets to ride for an hour a week and Laura is working on becoming an instructor there. Her desire would be to become an instructor full-time. This, if Hannah’s situation would allow her to someday. What a rewarding career it would be to assist those who have special needs. All because she is the mom of a very special warrior princess! One might think that there aren’t any silver linings when it comes to Batten Disease. One of the few positives may be the people that you meet. In the course of the journey, you become part of a great extended family. One that understands what you are experiencing and feeling. Many of those friendships will last a lifetime. Laura had this to say about her experience and meeting people in the Batten community, “I had never heard of Battens until her official diagnosis. Not even a guess. I was shocked. I am never to be the same. Some of the people I have met from the Batten community have been life changing, they are so strong and so positive. I am glad to have been able to be blessed to have met them.” I have read comments like this from many now. In fact, I have witnessed it first hand. This truth, concerning the Batten community, is another reason why. Strength in the face of adversity.
Life is a struggle for Laura right now as she cares for Hannah. Yes, there are some good things happening as well but the challenges remain. Financial hardship is a big one for her. There is no way that she would do things differently but she wishes that things were not so difficult. I am glad that Laura has discovered the support that is available to her through the Batten community. I wish that there were more people outside of those who battle Battens that could step up. Someone like Laura is so deserving, and what about Hannah? Meeting her was a pleasure and she is so special! More than anything, these kids are the reason why I write. I love my special needs son so much and I have no regrets about having him in our home. What I see in the circumstances surrounding kids with Batten Disease is so much more challenging than anything that we face. Batten kids tug at your heart like none other. They battle so hard and show us so much about resilience and the indomitable human spirit. They often love and are loved in ways that others are not capable of. I know that it has taken me a bit of time but does this explain the reason why? I hope so. Prayers and best wishes to Laura and Hannah. I hope to see them again next year in Denver, if not sooner.
Blogger and Advocate
I don’t normally use this blog as a tool for fundraising. That as it is not my purpose in doing what I do with this blog. I am posting the link to Hannah’s gofundme account because this particular family is in great need. Laura is so deserving of any help that she gets and it’s Christmas!
She is a great mom and, as the saying goes, she is stuck between a rock and a hard place! This last statement from her says a lot about her as a person, “I feel numb. I am not sure how to feel right now. I am weak but strong for my child. I am humbled beyond words but willing to help others and have been volunteering to help with horses.”
Please help if you are able. Click on the link below:
“I knew Oscar’s time was limited and I wanted to share with everybody how amazing he is. I want his life to be filled with happiness, joy and love. It really gives you a new outlook on life when something like this happens. You realize how short life can be and how important it is to make the most of everyday.”
Oscar’s mum sharing
her purpose and
why she started “Oscars Story.”
I am not sure how it is that we met online but I am glad that we did. Like myself, Holly Linville had attended this years Batten conference in Nashville and she had been deeply affected by what she had experienced. Holly is a nurse by profession and she resides in the area around greater Nashville. She was asked if she would like to work at the conference and agreed to do so. She had never heard of Batten Disease up to that point. In addition to being a nurse, Holly is the mother to two boys, ages three and six. She loves what she does as a nurse and also as a mom. After making introductions and beginning our first chat, she described herself as being a true Empath, or someone who is able to show true empathy for someone. One page that I visited stated that Empaths are able to absorb other people’s emotions and or their physical symptoms. These people are highly sensitive. You can only imagine how the combination of being a true empath and a mom to young children affected Holly as she learned about Batten Disease. This, while working at the conference.
Of course, a light bulb went on in my thinking as I thought about using her experience at the conference in a introduction to a blog story. I asked and she agreed to help. I ended up sending her four or five simple questions to answer and then went on with other things. Time went on and I wasn’t hearing back from Holly. I have a no pestering policy when it comes to this blog. I leave people alone when I don’t hear back from them, and I move on to the next thing. This is such a sensitive area and I am truly sympathetic to that. Anyhow, it would be weeks later that Holly would get back in contact with me and she told me that she would not be able to help. Among other things, she said the following, “I truly admire your work. Truly. But I just don't think I can contribute anything positive to your writing.”
Holly had been affected by what she had experienced at the conference above that which an average person would have been. This, as she cared for these dear children. The following is more of what she had to say, “I have nothing nice to say concerning Batten's Disease. I think it is a cruel and devastating disease and I cannot wrap my head around what the children and parents have to go through. I really have nothing nice to say about the Disease.” I can only agree with her comments. There is nothing good that could be said about Batten disease. It truly is hideous. Especially because it impacts children. These kids are so precious! Being with these children and seeing things first hand actually sent Holly into a depression. She said that she would find herself crying at various times. It would happen while sitting at a stoplight (Um, I can relate to this) or as she lay in bed falling asleep. It also happened as she held her own children tight. In fact, she still cries when she sees social media posts about these kids.
She expressed that the whole thing was hard to take in. I think this is because she truly does take things in. She has the ability to internalize things. Holly said that she is a pretty capable writer also (not that I claim to be). I believe her. She shared more about her experience and while doing so, actually started to contribute the type of thing that I was looking for in the first place. Here is what she had to say as she brought a child and her mother, from the conference, into the conversation, “At the conference, I tried to do the job I was paid to do. That is to care for the children and keep them entertained. I was holding it together in the activity rooms. I was playing with the children etc. There was a lot of distractions.....kids playing, parents coming in and out etc. I was distracted and busy. Then I went back to the "nap" room and met Caleb Johnson. His mom said he was tired and asked if I could stay with him, as she wanted to attend a certain seminar. So, it was just me and Caleb. He started whimpering some, so I got him out of his wheelchair and held him like a baby. He was the most beautiful little boy I had ever seen. I couldn't hold it together any longer. It was just me and him. My tears started flowing and I couldn't stop crying. I just don't understand why this has to happen to these beautiful children. I can't imagine what their parents are going through.” Oh, my goodness! I couldn’t believe what I reading as she said this. Holly had already stated that she had nothing to contribute.
As the chat continued, Holly would continue to give me exactly what I needed. This, as what she had to say included her feelings about little Caleb and his dear mom, Ashley Johnson. Holly would also say some things that would relate very well to the mother and son that are the subject of our next story. This amazed me as she originally felt that she would not be able to contribute. In a few sentences, she would share some of the things that we’ve already talked about in this blog. Holly used a quote that she had heard previously in relationship to what she had witnessed about Batten parents. Here is the quote, "You don't know how strong you are until being strong is the only choice you have." Her observation was that Batten moms and dads are so strong! I have said, in the past, that these are ordinary people that have been asked to do something that is extraordinary. And yes, I do believe that in the process, they become stronger than they might ever have imagined they could be. This is, of course, an outsider’s point of view but I don’t think you could argue with it.
Holly had the following to say concerning Batten parents in general and Ashley in specific, “The love she has for him and trying to help him experience fun things while she still can. As with many situations in life, I think, for the parents, it must come down to either giving up all together or making the best of the time they have. Ashley has chosen to move forward and do the very best she can for Caleb. She gives it her all. Driven by pure love for her son, that is what keeps her going. She takes one day at a time and makes the best she can of each day. I admire her courage.” You know what Ashley? I do too! These are the types of things that we’ve talked about in the past. These are the things that amaze me! The bond that is created being one of those things.
There is another story in the UK that takes place and it relates so well to what we have just talked about. It is happening across the Atlantic Ocean, approxiamately 4,000 miles (6437 Kilometers) away from where the Batten conference was held. What Holly stated about a mom in the US is also so true about a young mum in the UK. Her name is Carrie Baugh and she is the mum of a most charming little man named Oscar. This story belongs to them but it also represents all of those, worldwide, who battle Batten Disease. Here we go!
Carrie was young, but that didn’t matter to her. She was just so excited that she was going to be a mum. This was something that she had wanted. She loved children and looked forward to it with great anticipation. Carrie was seventeen and had been with her boyfriend for two years. She described the day that she found out she was pregnant as the happiest day of her life. Her pregnancy would go so well. She had no sickness or weird cravings and everything went smoothly. The only difficult thing was that her baby was very active inside of her. In fact, the baby loved kicking her in the ribs. This, to the point that it made them sore. It became painful to her to have this going on but she felt that it was a good pain. This, because it was an indication that her future bundle was healthy. Carrie was so happy even though she was a little bit sore. She was going to be a mum and Carrie was very excited about this!
The smooth pregnancy would give way to some challenges though. This, as it was time to bring her baby into the world. She would do so two weeks earlier than expected. Carrie remembered that night like it was yesterday and recalled the events that started as she was sitting at her partner’s home. It was just like any other night until she began having cramps of a different kind. The cramps would begin to get longer and more painful. That is when the couple called the hospital. This all would take place on February the 4th of the year 2013. It was around 8pm that they were told to head to the hospital, and so they did. Things were not progressing very quickly and Carrie was dilating slowly. The pain, also, was not getting any worse so they started to settle down into their hospital room in order to get some sleep. This baby had other plans though and so Carrie’s water broke. From that moment on, the pain would become worse and things really started happening. She recalls that at that time, she was taken to the delivery room with her partner Jake. Carrie is loved by her parents and she is especially close to her father. In fact, to her, he is closer than any other. Her father had arrived and she wanted him at her side during this experience. How very special is that!
Carrie would work for a few hours, pushing, but they weren’t getting anywhere. She was losing too much blood and doctors felt that the baby was becoming distressed. That is when it was decided that it would be best to perform an emergency caesarean section. Carrie recalled that all at once, The delivery room was full of people, all with faces that she didn’t recognize. You can only imagine what a whirlwind of events this must have all seemed like and Carrie describes what it would all come down to, “The next part I remember is being wheeled out, back out into the ward, and standing over seeing Jake, my partner, holding our tiny little baby. He was so healthy and so beautiful and they placed him onto my skin and I felt so blessed. I always had wanted kids, I love children! And now I had one. I was aware how young I was, but I always felt like I was born to be a mother.” In fact Carrie was born to be a mother and now she was. Every mom, or mum, remembers the time that she delivered her very first baby and her life is impacted by that event. Carrie could not have known at the time, however, the impact that this particular baby would have on her life. She had a boy and he was the most adorable baby boy. They would give him the most adorable name to match and that name was Oscar. Oscar Luke Somerfield was born on February the 5th of 2013. What a beautiful name!
Life is all about learning lessons and that would especially be true for Carrie as a new mum. The first year with Oscar was a difficult one but Carrie would have her father around to help. As she would put it, “I was lucky enough to have my father around to help. He was brilliant and honestly, I don’t think I could of done it without him.” It was at the time that Oscar was six months old that Carrie and Jake split up and that would make things especially difficult. Carrie said that she was already learning to be a mum and now, she had to learn how to be a single mum as well. Oscar would meet all of his early milestones and this made Carrie happy as she watched her little man develop. He was so much fun to be with. Carrie said that he was the happiest little person around, and in fact, he still is! Can you tell by looking at him? Yes, I think so! The truly beautiful part is that as Oscar was growing up, Carrie was growing with him. She thought that being Oscar’s mum was the best job ever. Who could argue that was not the case? Carrie and Oscar were living with her father when she decided that it would be best for them to become independent. She wanted to set a good example for Oscar and felt that having a place of their own would help with this. Being a mum was important to Carrie and doing the right thing was as well. She wanted to support herself and her son while living on their own.
Carrie had never worked before but the time was now. According to her, she had left college when she had gotten pregnant with Oscar and had never gone back. Motivated by her love for her son she went out and got two jobs in order to afford their first flat. This all happened when little Oscar was two and a half years old. You would think that this would create a lot of stress for this young mum as it had to be a challenge. It was, however, in Carrie’s own words, “so wonderful”. Carrie and Oscar were really enjoying their new life and the time that they spent with one another. I was left with many images in my mind as she described their time together. She said that Oscar would help her cook up their tea and they would sit down together at meals, just the two of them. Then, Oscar would help Carrie pick out a movie to watch on the television as they finished their evening together. There were already many precious memories being formed together. No one can know what the future will hold as life moves forward but Carrie must have believed that her future with Oscar would be bright. What would he grow up to be? Where would all that personality take him in life? The possibilities were without limit.
Life would continue and as Oscar turned three years old it would be time for him to begin going to school. He would attend nursery class at the local primary school and this would be one of his first big life events. What should have been a time of innocent fun and early life lessons would become complicated by some issues that plagued little Oscar early on. Carrie said that it was at this time that Oscar was losing his balance while at school. She was receiving phone calls where she was told that he was falling over for no apparent reason and without cause. It was also noticed that he was not developing at the same rate that his little piers were. One example was that his vocabulary wasn’t growing. This all caused Carrie to become concerned, of course, and it was decided that Oscar should be seen by a health visitor. Once there, Carrie was told that Oscar was just slow and he would eventually catch up to the others. Mothers know their children like no one else can and Carrie knew that something more was going on in her son’s case. There was more to this than just being slow.
Carrie stated that things would escalate quickly and Oscar would have a seizure while at school. I am sure that this was frightening, no matter what. Tests would be run on Oscar and as one might guess, he was initially diagnosed with epilepsy. Carrie said that she was not surprised with the early diagnosis as many of her family members had epilepsy. Was this really all that was taking place in Oscar’s case though? The truth would find its way to the surface as events continued to develop. As Oscar’s mum, Carrie knew that there was more going on with him. As you would expect to be the case, she would seek answers for what was taking place. Carrie would not rest until the question as to what was really going on was answered. Oscar and his mum would return to see his health visitor and this time, Carrie would demand that her son be seen by a pediatrician. In response, she was told that it could take up to twelve months to get seen. What? How could that be? That is unacceptable by any standard. Whatever was happening, things were progressing too quickly and Oscar needed to be seen. Carrie would make the decision to pay in order to have Oscar seen by a private practice physician. This took place at Spire Cardiff Hospital in Cardiff, South Wales.
The search for answers most often brings with it a false diagnosis at the beginning. Many receive several as they seek to put the puzzle pieces in to place. Oscar was given the diagnosis of Cortical Dysplasia while at Spire Cardiff. This condition is a congenital abnormality of the brain’s development. This can be the cause of intractable, or hard to control, seizures. The quest for an answer as to what was happening would start to progress but receiving the answer could not come soon enough. Oscar was then referred back to Glangwili General Hospital so that he could be seen more quickly. Poor Oscar’s condition was getting worse as the days continued on and more appointments were made. Carrie said that the first few visits were mainly for blood work as the medical staff tested for many different things. By this time, Oscar was turning four years old and changes were taking place. Carrie stated that he had completely lost his mobility and he could not even sit up by himself. Oh, how difficult this must have been for Oscar, as well as, for all who love him. I have often talked about what a child’s life should be like. Innocent fun and happiness should be the order of the day. We hate to see it when something like this takes place. How was all of this affecting Carrie?
There were also issues taking place with Oscar’s eyesight. Carrie stated that they would learn that Oscar had very poor vision after attending numerous ophthalmology appointments. In fact, he had very little eyesight remaining at that time and it was due to the damage in the back of his eyes. Whatever was taking place, this was definitely more than simple epilepsy and I think that people understood that at this point. Carrie was in the midst of a journey with Oscar and with every new bit of information the heartache would increase. This is what she said concerning the news about Oscar’s eyesight, “This was unthinkable. We had no idea he would lose his sight. It was unexpected and heartbreaking. I tried my best to learn sign language to communicate with Oscar after he lost his speech. Now, finding out his sight is being taken from him was too scary. I didn’t know how I was going to communicate with my baby anymore.”
A disability team would be assembled for Oscar. This, as a result of his growing needs. The team would include an occupational therapist, a speech and language therapist, a physiotherapist, and a neurologist. In addition to all the services that he was receiving, Oscar also received a walker. Carrie said that this was “magical” because he was able to walk on his own for the first time in months. Unfortunately, this would only last a couple of months because at that point, Oscar was no longer able to stand at all. This must have been so discouraging. His lack of mobility would cause Carrie to ask for a wheelchair but again, she was told that it would take months to be seen. Oscar was of course growing and he could no longer be carried. Carrie would, once again, have to take action on her own. She went out and purchased a disability buggy and it would cost over 300 Euros. As a single mum, Carrie’s income was an issue with all of the added expenses that came with having a child like Oscar. She would apply for a Disability Allowance for him and would have to fight extremely hard to get it. Carrie said that the process took months because Oscar did not yet have a diagnoses. I can understand how difficult this must have been for Carrie. Still not having an answer for herself added to the difficulty of getting what she needed for her son. There was also the need for a specialized type of schooling for Oscar. Carrie would tell me that he was placed in an assessment school until space was available in a program that could more fully address Oscar’s complex situation.
As 2017 rolled around, there would be more challenges and increased concerns. Osar would have to go through much and watching it all happen was so difficult for Carrie. On top of the symptoms of Oscar’s condition, there were all of the blood draws that he would have to endure. Carrie said that drawing blood from little Oscar is awful. It is hard to find a vein and it is a struggle to get the blood out even when one is found. The initial testing was not performed because the samples had been lost. This meant a loss of valuable time. Of course that meant more blood work had to be done. Then again, a few months later, Carrie was told that the amount that was drawn was insufficient for testing. That meant more blood draws and Oscar would cry non-stop during each one. This was so heartbreaking for Carrie to watch and so frustrating as well. She said that all in total, Oscar had five to six lots of blood tests in the span of six to eight months. She also said that the amounts that had to be drawn were not small. I am sure that it was easy to lose track with the number of tests that required blood, however, the experience is difficult to forget. The blood was drawn in order to test for a number of conditions but there was still no answer as the end of 2017 was approaching.
All of the tests had come back clear but there was one test result for which the medical staff was still waiting on. That was for a condition that was named Batten Disease and this was something that Carrie had never heard of. As with everyone else that learns about Batten Disease, Carrie was made aware of the fact that the disease is rare and it is fatal. The fact that it is very rare often leaves some within the medical community unaware of its existence. Carrie said that Oscar’s consultant seemed to speak with uncertainty as he informed her about the disease. She went on to say that he only knew of two cases within the UK. Carrie explained what her thinking was at the time she was informed about the possibility, “They told us that this disease was extremely rare, and then I thought to myself, there is no way Oscar has something this bad. I was adamant that it couldn’t be this, so I was worried about the results. Something like this doesn’t happen to normal people I thought to myself. Oscar was just extra special and he would be okay in time.”
In fact, Batten Disease does happen to normal, everyday people. It happens to families from all walks of life and levels of income. It doesn’t discriminate for any reason. While it may be classified as a rare disease, it really affects many more children than one would expect with it being considered rare.
There would of course be other types of testing that would take place. An important one is an MRI and Oscar would undergo that test. As one might guess, he would would have to be anesthetized in order to have the test performed. All would go well and Carrie would return home with Oscar. It would be the end of last year that the doctors wanted Oscar to have another MRI performed and this one wouldn't go as well. Oscar would not recover well from the anesthesia. Carrie explained her response in part, “A moment like that, you don’t think will ever happen to you.” There is always that risk when anesthesia is involved and for someone like Oscar, who was medically fragile, it is an even bigger concern. That experience was, of course, frightening to Carrie as Oscar had to stay in the hospital to recover. She explained that her “heart dropped” as she saw Oscar struggle to recover this time around. MRI testing is always performed in a search that includes Batten Disease as a possibility. Doctors can generally see differences in a child’s brain that may cause them to look further through other means. The doctors could see that something wasn’t right with Oscar’s brain. They explained the things that were difficult to understand but it was obvious that Oscar had a major issue going on. Carrie recounted all of the testing that he had to endure in addition to those already mentioned. They included included Scans and Xrays, EEGs and 24-hour EEGs, Lumbar Punctures, and well, you name it! The results of the EEGs would reveal that an enormous amount of seizure activity was going on in Oscar. The poor guy had to be such a trooper and one has to wonder what he was thinking during all of this. Still, He smiled brightly on every occasion that he was able to do so. Such an adorable little man he is. What a little warrior and a handsome prince!
As 2018 came around, Carrie would have other concerns as well. She said that it was necessary for them to move to a different place. This was, in part, because she could no longer manage getting Oscar up and down stairs. Another factor was that they were not allowed to make any adaptations to their dwelling place that would benefit Oscar. Carrier said that they contacted the housing counsel to see if they could help with this. After a wait, of course, they were able to help Carrie find a new place for them to live and it would fulfill their needs. It had been fitted with a hoist for Oscar and it had wheelchair access. The only problem was that it was further away from family and friends but still, this made Carrie feel like things were falling into place. In addition to the new dwelling, Oscar was given a spot at a new specialist unit at school in March of 2018. This was huge for him and Carrie said that the staff there gives Oscar so much love and respect. They are wonderful and provide him the bests days that he can have! But still, there was not a complete answer as to what was going on with Oscar. That would soon change though and the change would happen as a letter was received in May of 2018.
Carrie was informed through the mail that Oscar had an appointment with the pediatrician at Glangwili on the 22nd of May. They also had an appointment scheduled for a week later at Cardiff Hospital to see Oscar’s neurologist. They assumed that the purpose of the later appointment at Cardiff was to discuss the findings of Oscar’s test. It was, however, at the earlier appointment with the pediatrician that the outlook for little Oscar would be changed forever. This, much to everyone’s despair. Carrie, and company, had arrived early with Oscar and had taken a seat in the waiting room. Much to her surprise, they were called in to the appointment room in only a couple of minutes after arriving. This was just supposed to be a routine appointment with the pediatrician.
However, immediately after arriving, the doctor informed Carrie that the results were back and that through gene testing it was determined that Oscar had the CLN7 variant of Batten Disease. Carrie described her response and what she was thinking as she was given the news,
“It was true, it was all true and it was real. He had this horrible disease that none of the doctors or us knew anything about. I was wrong, things like this do happen to every day people, it was happening to us. To my Oscar. My heart dropped and I felt one tear drop from my eye. All I really wanted to do was crawl up into a ball and call my dad. I felt like a little girl again, scared and afraid.”
And yet, Carrie knew that for the good of Oscar, she had to Continue on with the appointment. Her role in Oscar’s life would become even more vital than before. She continued to tell me about the appointment,
“I knew I had to listen to the doctor and take in information as it was so important to know exactly what we can expect and the next steps moving forward. So, I wiped away my tear and pulled myself together. I asked as much as I could about this disease and the doctor told me all he could. I looked over to Jake (Oscar’s father) and he was silent. I could just tell he was as heart broken as I was. In a way, it wasn’t a surprise as we knew it was the only thing they were testing for now. But also, it was so unlikely that I almost made up my mind that he didn’t have it. Now I was wrong.”
Oscar has Late Infantile Batten Disease(CLN7). It is the gene that has been identified by researchers as CLN7 that is responsible for this variant. Both Carrie and Oscar’s father Jake were carriers of this gene and that is why the disease is rare. To the best of my knowledge, CLN7 Battens is one of the most rare variants of the disease. This is an aggressive form of the Battens and as far as I know, there is not a clinical trial that is yet available. Oscar and everyone that loves him would find themselves to be on a journey. He would become a warrior and a prince of a rare kind.
With receiving the news about Oscar, Carrie wanted to share his life story with others. This, in order to let people know what an entirely special little man he is. He is so very special. Just look at that smile. It is undeterred, even with everything he faces, and it is one of his trademarks. Carrie started a blog page on Facebook and she called it “Oscars Story.” She keeps people informed about events in Oscar’s life while sharing the struggles, as well as, the joy that he brings to people that know him. Talk about on the job training. As Oscar’s mum, Carrie has certainly been through much. Carrie said that the months following the diagnosis were “hectic”. According to her, everyone got involved as the number of Oscar’s appointments only increased. These were with specialists and Oscar’s palliative care team. Dealing with the issue of palliative care was especially difficult on Carrie and she explained why that was, “This was hard. We had the talk about an end of life care (plan). Oscar was only 5. How could we possibly be planning end of life care for him? It didn’t seem real, but it was. They told us that the sooner he had one in place the better, so we needed to think it over and just prepare for it. Again, how can you prepare to put a plan in place for Oscar’s end of life? I was feeling exhausted and stressed.”
In fact, Carrie began to have issues with her heart because of the stress. The doctors would give her the “all clear” on the health of her heart and they told her that she needed to stress less. Her feeling in response was “how is that possible?” The good thing is that Carrie had since begun a new relationship with her partner Simon who was around to help her with many of the physical tasks. He was also a big help mentally for Carrie.
This was a good thing because the challenges with Oscar became more complex. The following describes what she and Oscar’s father Jake would have to endure (not to mention Oscar). It also gives examples of the types of things that are faced by some of those who care for these beautiful children (they are so beautiful). This is all of what Carrie had to say, “Oscar began to stop sleeping, he was jerking A LOT, and he started to develop some choking issues. He was missing a lot of school and he couldn’t manage his food properly. Giving him all his medicine was a task (and he had a lot). He has medicine for his muscle stiffness, seizures, reflux, sleeping, dribbling, and constipation. Oscar was then given an Ng tube. This alone was terrifying. Me, Jake, and Jake’s mother all had to learn how to give medicines, do flushes and feeds, etc. We had to look out for important signs of infection or any issues like the tube going into his lungs. I was petrified. If I got anything wrong, it was my fault. And I couldn’t do that to Oscar. But then, two months later, I could do it with my eyes closed. You certainly get used to it, and now Oscar can have his medicine and nutrition without an issue.”
In addition to all of this, Oscar was pulling out his tube on accident quite a bit and this meant trips to the hospital at Glangwili. This, in order to get a new one inserted. It would happen mostly on the weekends and while he was at his father’s house. Is Oscar worth all of this trouble? Dear God, yes! Just look at him. Whatever it takes!
What are the things that we have talked about in this blog? The things that we see in these families that face Batten Disease? Each story begins with the joy that comes with welcoming a child into the world. Sometimes we touch on the expectations that one might have for the life of that child. Then, things begin to happen that no one would expect to happen. There is, all of a sudden something very wrong and a search for answers takes place. Sometimes that search takes a very lengthy period of time and sometimes the puzzle is put together more quickly. The search takes place while the child suffers setbacks and symptoms that leave people confused and dismayed. When the answer is found it brings with it devastation that has to be experienced in order to be understood (I don’t mean to be overly dramatic, but this is really the truth). Devastation gives way to determination to do everything that is possible. This, in order to provide the best and brightest quality of life. To provide the happiest and most loving home. To make the most out of the worst situation while making the sweetest memories in the process. All, while remaining broken hearted. Through this, we observe undying love and a bond that is so strong and so sweet (Such is the bond between Carrie and Oscar). We see ordinary people that are asked to do something that is extraordinary. This is not even to mention what we see in these children who become little heroes. In them, we see resilience and the display of the indomitable human spirit. What we see are little (sometimes a little older) warriors that can subdue us with their innocent smiles and laughter. All while they battle so bravely. All of this is what we see in the life of Carrie and Oscar, Just like we see it in Ashley and Caleb. These are things that have been observed recently by my friend Holly and these are the things by which she is so deeply moved. I am amazed when I watch from a distance the things that to others may seem like just a matter of survival.
Oscar’s needs continue to increase in complexity. Carrie was waiting on a new wheelchair for Oscar at the time that she sent me their information. She was also waiting on more testing before Oscar recieves a PEG. Carrie tells me that this is a tube that carries nutrients and medications directly to the stomach lining. You see, Oscar has had a terrible time with reflux issues. It is so difficult to consider that an end of life plan for Oscar has to be put into place but, in fact, it does. I just cannot know what it is like for such a young mum like Carrie to have to go through this. I am glad that she is surrounded by people that love her and Oscar. What a character builder this is. What a wonderful mum and person Carrie is as she has set aside everything in order to care for Oscar. Is he not adorable? He sure is! The following are some of the things that Carrie had to say about Oscar and the love that she has for him,
“He is the most beautiful child in the world. He is always happy, despite everything he goes through and he is a real hero. He is my hero. He has taught me so much, and changed me into a better person. This disease is awful, but it makes him ten times more special️.”
“Most parents regret not spending enough time and appreciating these moments more as their children grow up so fast. I was given the opportunity to love him so much, and to appreciate every single day I get with him. If there’s one good thing to come out of this, it’s that.”
“Our future is still unknown. We know Oscar has got a short life. And every time he loses a skill, or deteriorates a little more, I’m reminded of it. But what I do know is that I have some time left with him. In that short time I will spend as much time as I can with him and make the most of each day. I will try to make Oscar smile and laugh as much as I can, and I will remember these happiest moments we make together, forever.”
Carrie Baugh, you are incredible! There is no way that I can capture all that is taking place in the life of this amazing little man and his mum. The varied emotions that are felt, as well as, the many stresses of dealing with the disease. There are also many sweet details that I would not have room to list. I did my best, however, and there are some things that I am absolutely sure of. The impact of Oscar’s life on Carrie is one that will last a lifetime, and her own experience is one that others will benefit from. I am convinced that while these kids lives come about through a rare set of circumstances, they are by no means an accident. They have real purpose in coming to these families at the time that they do, and their impact will be felt forever by those who love them. They are truly amazing! These are the things that we’ve talked about and they are the things that I will continue to make people aware of as I have opportunity.
Blogger and Advocate
“There were no awkward stares or whispers. Everyone went about their business around us. As I was kneeling beside Kristiina and comforting her, one of the mother’s came over and squeezed my shoulder, asking if there was anything she could do or help with. I soon came to know that wonderful, sweet woman as Laura Betts. For the first time in forever, this felt ok! I didn’t feel like the freak at the circus everyone stares at. We were totally overwhelmed by the warmth and acceptance of everyone around us. It changed our perspective of our situation for the better, forever! And finally, we didn’t feel like we had to do this alone anymore.”
While attending her first
I may sound like a broken record to some. This, because I tend to repeat myself many times over from one story to the next. I do this for a reason. It is because I want to place emphasis on the things that I feel are important to mention. Some people that read these stories, do so on a regular basis. Some even wait for the next one to be written. There are others that scan each story and look for the highlights, while others read them in their entirety. Perhaps some look on to check out my work. This, to see if my comments are based on fact. Others, just know about the blog’s existence and are happy to know that I care. I do care greatly! I am happy to have people viewing the blog for whatever the reason they have chosen to do so. Greater awareness was never my primary reason for doing what I do although It has helped with that. My purpose has mainly been to honor those who battle Batten Disease, as well as, to share the struggle that is associated with it.
I am at the point where doing this has become a part of who I am. The work that I do has never been for profit although I have gained much from writing these stories. These kids have taught me that I love to write. (Whether or not I am well written is up for the readers to decide). I started writing about these priceless warriors as the result of a chain of events in my own life. It is so easy to create dramatic occurrences through the written word and I don’t want to do that here. Simply put, I became aware and one thing led to another. The events that followed changed my way of thinking. Anybody that knows me, knows how much I love my son who has special needs. As I write this, I am leaving in a couple of hours to go out on a work trip for several days. I hate leaving my guy behind, as well as his mom, but I do it because I sometimes have to. Just knowing he is in the next room gives me comfort. What would it be like if I no longer had him there? Our time together is always priceless. I have no idea as to which one of us will make it to the finish line first because his outcome in life is unknown. What if I did know though? What if a doctor had sat down in front of me and had given me the news? The news that my child has a terminal disease for which there is no cure? That is what a family faces when they are told that their child has Batten Disease.
The climax of their story brings with it the devastating news that they will one day have to say goodbye. How can it be that there is no cure? Change is taking place but it seems to be happening at a snail's pace. Each of these stories contains the dramatic outcome of a search for answers and I include these details on purpose. The initial shock and grief that is so understandable eventually gives way to determination. This, to do one's very best for their child in helping them to battle Batten Disease. I am always amazed by the details of undying love and sacrifice. These families are made up of ordinary people that are asked to do something that is extraordinary. All of a sudden, these families find themselves being part of a community that was previously unknown to them. While it is unimaginable for most of us to go through such an experience, it is understood by those who make up the Batten community. Once the community is discovered, these families become part of a larger group that understands what each are going through. All of a sudden, they are no longer alone and in a state of confusion. The heartache is still there but they are no longer alone. That is what my friend Monica found out at the time that she attended her first Batten conference. I was allowed to attend this event for the first time this year and it was an experience that I will never forget. These kids are absolutely priceless and I am amazed by the stories that these families create by their caring acts of love and affection.
This next story, like the others, is about a family. It is a story about a community that they would discover after a search for answers. What once seemed like a problem that could be solved would actually become a journey that they would take together. Out of these circumstances, a princess of a rare kind would become the center of their attention and her life would change theirs as could no one else's. Monica Perreault’s life would take a course that she never would have thought about. She would experience events in life that one could never imagine. We all experience things in life that are good and bad. Things that are difficult and that bring challenges that are not expected. There are things in life that test us and that require courage. Events in life change us and they make us who we are. Sometimes, other people benefit from the changes that are made in us. Those changes may be affected by a single person and very often, they are. Things usually begin as two people meet and that would be the case for Monica as she met her future partner Robert. They would meet in 1992 through a mutual friend and they began to date. This would take place in Scarborough, Ontario which is in Canada. This is the place where Rob and Monica grew up and it is the place that this story begins.
They were young and It didn’t take long for Rob and Monica to fall in love. What almost always follows is the desire to have a family together. Such was the case for this young couple and their heart’s desire came in the form of a baby boy. Their first child, which they named Matthew, was born in October of 1993. They had a baby boy and they were so excited as they welcomed him into the world. This young couple’s life together had started to take shape with the addition of little Matthew into their home. There would be challenges ahead but they felt that they were ready to handle all that life would bring their way. Rob and Monica had recently moved a few cities away from family and had tried to make a go of it. They found, though, that they missed being close by. That is when they made the decision to move back home. They went back to Scarborough and moved in with Rob’s grandmother who they lovingly referred to as Nanny Cassels. It would not be long after that when Monica received some exciting news. She was pregnant and the best part was that she was going to have a daughter. How exciting this would be for any young mom. Their little family would be complemented by the addition of a little girl, and they had the perfect name in mind.
The time came for the family to welcome their next little bundle into the world. Baby Matthew had been born by C-section but it was time to give a normal delivery a try. Monica would endure five hours of trial labour when it had become too much for her to bare. With a sense of urgency she would tell the the doctors, “I don’t want to do this any longer! I can’t wait another minute! Get her out!” Monica stated that the delivery was a little bit rough as she had a reaction to the small amount of morphine that was in the epidurals. As is the case when you deliver a baby, it is always a labour of love, and the the birth of Kristiina Lynn Cassels was no exception. She was born on the day of May the 15th in 1996, and she came into this world as pure perfection. Kristiina was born at Ajax-Pickering Hospital in Ajax, Ontario Canada. She was delivered, as her big brother had been, by Cesarean section. That means that she was perfectly shaped, and oh, so beautiful. She had all of her fingers and toes and she was covered in brand new baby skin. She felt small in Monica’s arms at eight pounds, 11 ounces. This, being almost three pounds lighter than brother Matthew. Monica had to have been beaming with Joy as she held her baby girl for the first time. Rob and Monica felt that they had the perfect size family now, and they had a boy and a girl! They must have had thoughts and feelings about their future life together with their two beautiful children.
Kristiina’s name, which uses the letter i three times, was not a misspelling as the spelling had reason behind it. Monica reflected concerning her daughters name, “We had chosen to spell her name differently than most to reflect her Finnish background on my side of the family. Her name was perfect and unique, just like her!” Kristiina was unique from the time of her birth and her life story would remain that. She was perfect in appearance at birth and she is, to this day, uniquely beautiful. Monica had no idea, at the time, as to how this little person would impact her life but that impact is being formed continuously. Monica stated that Kristiina was a much different child than her brother Matthew was. She had, in example, a problem with Colic. Kristiina would cry a lot and she was hard to get settled down. Monica joked that she had learned the fact that the sound of a vacuum cleaner calmed Kristiina. This would quiet her down and she described what she did as a result, “Needless to say, I vacuumed A LOT! LOL!” As Monica’s little princess continued to grow, she graced the household with her presence. She was reaching all of her milestones within the normal timeframe and she was developing just like any other normal child would. Monica told me what she had seen in her daughter and it would be wrong to not let her tell you what that was. This is what she said, “She was bright, delightful, and had an immense amount of energy! She had a giggle that touched my heart each time I heard it. Her eyes were so blue that I used to drown looking into them. She was my princess!”
Life at this house continued to move on in the normal fashion. Rob would continue to work full time in order to provide for the family while Monica looked after the children. Things were working out for them as they continued to grow as a family. They would move into their own semi-detached home in September of 1999, to a place name Brampton, Ontario. The couple would ask Monica’s parents to move in with them. This, in order to make things more affordable and to receive help with raising their children. Life was overall quite good for this young family and Kristiina was on target in her early childhood development. It was, however, in her third to early fourth grade year that she started to develop problems with reading. She was also having trouble pronouncing certain words. Monica stated that one example is the word binder. Kristiina would instead pronounce the word as blinder. They didn’t panic over this as Matthew had similar struggles early on. Monica said that things would straighten out in Matthew and that it would happen as if “someone turned on the switch”. Monica thought that Kristiina had inherited the issues with pronunciation from her. This was because she herself had spent many years in speech therapy. Their little darling would continue her education in regular school through an education plan that would accommodate her needs more fully.
We are all changed by the circumstances that surround us. Things that are good, and also those things that are life’s struggles, can change our situation as they impact our future. The same would be true for Monica and her family. It would happen as they would experience the loss of her father in November of 2003. This would shake up anyone and I am sure that the entire family must have been greatly affected by the loss of Matthew and Kristiina’s grandfather. In fact, Monica’s mother and sister would move from the family’s home by the following July. This, because the memories of what had happened became too much to bare for her mom. This would, of course, require adjustment, and that is something that happens for most of us from time to time. Life would continue for a while but then an event would take place that would be a sign of what was to come for this family. It happened as Monica was returning home from working the night shift. She had since taken on a job of her own in order to help out with the family budget. It was December the 6th of 2007, as Monica returned home, that she did so to the sight of emergency vehicles in the front of her home. Monica describes the scene as she returned home, “I came home to police cars, fire trucks and an ambulance in front of our house. I remember time standing still as I got closer to the house and panic rose in my throat. Our next door neighbor met me getting out of the car. It was then, my worst fears came true. They were all there because of Kristiina!”
The image that this leaves in my mind is so moving as I think about the love relationship that exists between Monica and Kristiina. According to Monica, Kristiina had fallen and had gone into a seizure that morning before she had returned home from work. This, as she looked out the front window, waiting for Monica to return. Testing was run on Kristiina after she was rushed to the hospital for follow-up. All of the results came back normal and she was released to return home with her family. It was, however, only days later that Kristiina would have another seizure. Further testing was done, but again, it came back without any findings. Monica said that as the third seizure occurred, they demanded that Kristiina be seen at the Sick Kids Hospital in Toronto, Ontario, Canada.
Yet again, the testing came back showing everything to be normal. Kristiina had an aunt on her father’s side of the family that had a seizure disorder. The doctors felt that the two conditions must be related but still, this left the family feeling helpless and confused. This was their princess. She was so much the center of their world. How upsetting this must have been! The only positive that came out of this was that Kristiina was referred to a pediatric neurologist. Kristiina would see a neurologist at Trillium Valley Hospital in Mississauga, Ontario, Canada. Dr. Conrad Yim turned out to be extremely qualified in handling Kristiina’s situation as he was able to get the seizures under control quickly. She would, however, continue to have breakthrough seizures even while on medication. Monica described how all of this left them feeling as they witnessed the seizures, “They were hard to watch her endure and left us all exhausted. They were so unpredictable and as a result Kristiina suffered many falls and bruises.”
Life for a family often becomes more complicated in general as the years pass by. Throw into the mix of events a child that is suffering from recurring seizures while not having an answer for why it is happening. Well, that can create some real stress in a relationship. All of a sudden, you have this one person that requires so much attention and as a result, other relationships may suffer. Whether or not that was the complete story in Rob and Monica’s case, it was definitely a huge factor. It was April in 2008 and by that time the relationship between Rob and Monica had broken down. According to her, she and Rob had become much different people. It is sad when this type of thing happens but the reality is that it does. This part of Monica’s story, though, would eventually have a very happy ending. In the course of time Monica would meet someone that would be the perfect match for her. That being her future husband Adam Bearman. The relationship started at work in friendship,, but as Monica learned more about Adam her feelings for him would deepen. Monica was struggling with her situation as far as Kristiina was concerned. Having a child with special needs can be so difficult and it often takes the right type of person to deal with the circumstances. Adam was that type of person and as time went on he would show Monica much about her situation. You see Adam had been around people with disabilities for a good portion of his life. In fact, he had even played wheelchair basketball for almost four years. Monica stated that Adam was almost more comfortable around Kristiina’s seizures and special needs than she was. People always come into our lives for a reason and such was the case with Adam coming into Monica’s life. Instead of complicating the situation, he would make Monica’s life easier. There is more that could be said here but in concluding what Monica had to say about Adam, she stated that his own experience was responsible for helping to “change her way of thinking.” Monica would elaborate concerning Adam’s help as she told me the following, “He (Adam) told me ‘the only limitations Kristiina has, are the ones you place on her’. It changed things for me and in me. I looked at what was going on with her differently. I stopped wrapping her in bubble wrap (figuratively speaking of course!) and I let her do the things she wanted to. He helped me to let go and stop molly-cuddling her and it allowed her to become independent and grow.”
Adam and Monica would continue to face the circumstances surrounding Kristiina’s situation together. The puzzle pieces that were an actual diagnosis for Kristiina were yet to be put into place. Adam showed great leadership, unconditional love, and support during the time that it took to find an answer. He was by the families side, and they would not be alone in the struggle.
Monica would make the decision to move with Kristiina to Burlington, Ontario Canada. This because she felt that the school system there had opportunities that were better suited for Kristiina’s needs. In fact, Kristiina loved going to school in Burlington. She made new friends and she had fit in well in her new surroundings. As 2009 rolled around, Kristiina was also doing well when it came to seizure activity. Monica said that at that time seizures were few and far between. They were checking in with the neurologist every six months and her EEGs were showing that no seizure activity was present. Monica stated that Kristiina was so healthy that she was getting sick less than anyone else. She was helping with the dishes and she was so happy. In fact, the whole family was happy and Adam and Monica were happy together! Things would change as Kristiina turned fourteen years old, and as she started high school. Stress and overstimulation would prove to be triggers for seizures in Kristiina. According to Monica the stress of high school started taking its toll on Kristiina. She started having seizures every other month or so. This number was a lot for her. Monica said that the grand mall seizures were especially hard on her daughter as they left her exhausted for as much as 24-hours. She would go on to tell me that it was at about this time that Kristiina was showing signs of regression. The regression would be followed, after a while, by a slight improvement in the affected area. It was obvious that Kristiina’s situation involved more than just a simple seizure disorder, but what was it? A possible diagnosis was mentioned several times but none of them could be proven to be correct. Hereditary Seizure Disorder and Globally Developmentally Delayed were two terms that were brought up as possibilities. Monica said that the possibility of crushed blood vessels in the left frontal lobe and oxygen deprivation were used many times as reasons for Kristiina’s delays. How frustrating it had to have been to not know the answer for what was happening and yet, to have to watch these thing take place. It is very possible that feelings of isolation may have set in as well. This because of misunderstanding by those that are not affected.
Adam had brought a daughter from a previous marriage to the relationship and her name is Sammantha.Together, Kristiina and Sammantha would become big sisters to another beautiful baby girl. Her parents would name her Khloe Lynn Bearman and she was born in April of 2012. Monica stated that the bond between Kristiina and little Khloe is indescribable. She went on to say that it is beautiful to behold. I get the feeling that this entire blended family was extremely close to one another from the beginning. It appears that the difficulties that have come with Kristiina’s condition have only served to make them closer to one another. That is the way that it should be!
It was early December of 2007 that Kristiina had her first seizure and much had happened since then as 2014 rolled around. This is when the neurologist was prompted to have further testing done on Kristiina. He had blood work and metabolic testing done, but Monica said that all of this revealed nothing out of the ordinary. He would continue to have EEGs performed, and this time, the results came back abnormal. This would cause the doctor to dig deeper. He wanted to have genetic testing performed. The search for an answer as to what was taking place with Kristiina was starting to narrow, and soon, the family would know. The puzzle pieces would soon be put together. This, much to the family’s dismay. Monica stated that a call to Toronto Western Genetics Lab was made, but they were told that there was a years wait to get tested, How could that be? She would go on to say that there was no way that she would wait that long. I wouldn’t have either! Monica did an online search for another lab, and she found one named Hamilton's McMaster Genetics Lab. She asked how long the wait for an appointment was in an urgent situation. The lab contacted Kristiina’s neurologist to verify her information, and still, it took four months before blood samples were taken. This, at least, was better than waiting a year. It was in April of 2015 that samples were submitted at McMaster Hospital in Hamilton, Ontario Canada. It is hard to believe what would follow and the time that this family would have to wait to get an answer. Life always moves on whether or not we want it to and to remain patient is so difficult. This, when you are facing a challenge such as this family was at that time with Kristiina. Adam and Monica were informed that it would take, in all likelihood, until December to get results from the test. This was because it would take four to six months to get government approval for the genetic testing to get paid for. Oh my! Yes, Life would have to move on as they waited.
Something really exciting would take place as they did wait. Adam and Monica would become man and wife! Adam had been there unconditionally and he would continue to be the rock of the family. It was in December of 2015 that the couple would tie the knot officially. They did things all fancy like, of course, and princess Kristiina would have her place in the ceremony. She would be one of the bridesmaids and would be dressed like the princess that she was. Monica said that Kristiina beamed proudly while wearing her red dress. I just bet that she was a sight to see! As this was happening, it was also time to inquire about the results of the genetic testing that was done on Kristiina. Monica felt that it was time, but the genetic counsellor wanted to consult with Monica, as there was a problem with the testing. You see, the samples had become untestable. They had somehow become contaminated. Perhaps by improper storage or by being stored at the wrong temperature. Can you imagine the level of frustration that must have risen as a result of hearing this? This meant more blood would have to be drawn and the family would have to wait again for the results. Fortunately, they had previously gained the approval for funding of the cost. Even so, as April of 2016 rolled around, they would have waited a year to learn the results of the testing. At this time Kristiina was 19 years old, soon to be twenty and Monica stated that the entire experience had been a real rollercoaster of emotions. Adam and Monica attended the appointment with Kristiina also being present as they received the news. Monica stated that she should have known that the news wouldn’t be good by the way it’s delivery started. The geneticist and counsellor sat down in front of the family and here is what was said between them as recounted to me by Monica, “Uhh.. Yeah. The results are back.. and we found the reason.” I remember saying “So you know what’s going on? You have an answer?!” And she said “Yes. It’s a rare, neurodegenerative, lysosomal storage disorder.. (pause).. fatal, incurable.. pause.. disease. Batten’s Disease, specifically CLN2. It means the brain cells don’t dump the waste, and it builds up and the cells die resulting in the regression of skills that Kristiina is experiencing”.
And there it was. The answer for what was plaguing Monica’s princess. I think that most parents believe that they are facing something that is fixable once the cause is determined. At least, they have that hope within them until they hear the news that brings with it pure shock and utter despair. Monica puts their reaction into her own words with the following, “None of us had ever heard of Batten’s Disease. My brain stumbled over those words one by one in order to understand what it all meant. Wait! fatal? That means resulting in death! Incurable? That means there’s no cure! My eyes stung with tears. Adam excused us from the room. My daughter was just issued a death sentence. I was devastated!! Thank you God for Kristiina not understanding a word of that appointment! I had so many questions! How? Who does she get it from? (the answer was) It’s a recessive gene. She inherited a copy of my rare gene and a common copy of the gene from her Dad. They went on to explain more stuff which just sounded like babble to me as I was too preoccupied in my own thoughts. They were both very sympathetic to our situation and offered to do whatever they could to help.”
Kristiina was diagnosed as having CLN2 Battens, or Late Infantile Batten Disease. This, even though she was quickly approaching twenty years of age. In her case, she was defined as being atypical. This, because in most cases, this variant of Batten Disease strikes people that are much younger, and therefore, are young children. At first, the geneticist thought that she had Juvenile Batten Disease because of her age, but the results did not lie. The doctor and counselor proceeded to furnish Adam and Monica with some information on the disease that they had put together and directed them to some websites that they felt would help. They also said that testing could be performed on other family members when they were ready. Can you imagine the rush of emotions as their world was quickly turned upside down? Monica continued to share what she was feeling at the time as she stated the following, “ I had not been prepared for this diagnosis at all. Not just the diagnosis but also what would happen to my princess. She would go blind, she would lose the ability to walk, she would lose the ability to eat and then eventually die!! I hid from the world for a few days as I tried to gather the strength and courage I needed to go on.”
Through everything, Kristiina would continue to be her normal cheerful self. Being a parent to a special needs person, my heart just naturally goes out to Kristiina and her family. Seizures and delays are things that we are familiar with, but the awful diagnosis that is Batten Disease is something beyond what we have experienced. It had to have been so terribly difficult to receive the news that Kristiina was a Batten warrior. I am sure that breaking the news to others while watching their response was a challenge as well. They first broke the news to Monica’s mother and her sister Janet. Then, they did so to Kristiina’s school teacher and the rest of the staff at her school. They were crushed as Kristiina was muched loved by everyone that knew her at the time. She is still much loved by all who know her. Monica said that as the school staff listened, tears streamed down all of their faces. I myself, have shed tears as I have poured over the details of these stories. These kids are priceless beyond comparison. As was mentioned earlier, Kristiina’s twentieth Birthday was approaching quickly as all of this was taking place. Her Birthday would come and go quietly. Monica made comment about this stating that it just seemed, at the time, that they had just taken another step closer to her daughter’s death. They did, however, celebrate the occasion at home, and made good and sure to make their princess feel special. Oh God, how truly special she is! Again Adam would take the lead as the mood in the house became somber. Monica said that she was having a difficult time coming to terms with what life had brought there way. She said that she would find herself falling apart often and with great ease. How very understandable! She would go on to tell me how Adam helped in this situation, “Adam persuaded me there was no time to sit around and wallow in self pity, we needed to act. We needed to learn more so that we could make these years, or however much time we had together as a family, special and memorable for us all!! I began researching Batten’s Disease. Looking for other families I could reach out to. The world felt so big and I felt like we were so alone in this.”
Monica started making phone calls as Adam continued to work to provide for the family. She looked for provincial and municipal programs and organizations that might be a help to them. She also posted a plea in one of her mammas groups on Facebook. As she did so, she was shocked to find out that one of the mom’s had a nephew that was battling Batten Disease. How could this be? Through all of what would follow Monica would learn that they were, in fact, not alone. No, not at all. There was a worldwide community made up of families that were facing the same set of circumstances. Supported by social media and other forms of communication, these families were anchored together by organizations like BDSRA and BDFA in the UK. These families were and still are able to understand and support one another as no one else can because only they can fully understand what each other is experiencing. They know the details of what takes place as the disease progresses and they are able to know what each other is feeling on an emotional level. You have to walk in a person’s shoes to know for yourself! Adam and Monica would find Bev and George Maxim of the Canadian chapter of BDSRA and very quickly, they made plans to attend their first Batten conference in July of 2016. Monica said that it was the best thing that ever could have happened at that point. They were able to connect and learn so much about Batten Disease from the many professionals that were in attendance. My opening quote comes from an event that was experienced as they attended the New Family Mixer at the conference.
The gathering was overwhelming for Kristiina because of the large number of people in attendance and as a result, she experienced a seizure. I’ll repeat what was previously quoted at the beginning and include the remainder of what Monica had told me, “I had never experienced anything like what followed. Adam immediately ran back to our room for her rescue meds. Everyone at our table sprung into action! The two men lifted the table out of the way and gently placed Kristiina on the floor on her side. The one lady calmly stated her seizure had started at such an such a time and it had been just over a minute. There were no awkward stares or whispers. Everyone went about their business around us. As I was kneeling beside Kristiina and comforting her, one of the mother’s came over and squeezed my shoulder, asking if there was anything she could do or help with. I soon came to know that wonderful, sweet woman as Laura Betts. For the first time in forever, this felt ok! I didn’t feel like the freak at the circus everyone stares at. We were totally overwhelmed by the warmth and acceptance of everyone around us. It changed our perspective of our situation for the better, forever! And finally, we didn’t feel like we had to do this alone anymore.”
And with that, Adam and Monica discovered that they were not alone. They had the overwhelming support of a big bunch of wonderful people to whom they could relate. People like Laura and Barrett Betts, as well as, many others. It was, no doubt, an amazing experience for them! Over the course of the last couple of years since the diagnosis, there have (I am sure of this) been many close bonds created between the Bearman family and many of the others. The year 2017 brought with it occasions that were reason to rejoice and also things that brought sadness. It was 2017 that Kristiina would graduate from high school with a Certificate of Accomplishment. Monica said that they were surprised when they learned that the Parliament for Burlington Ontario presented Kristiina with the Citizen of the Year Award! She is so deserving of that! Life after high school, though, would bring many challenges for the family. Kristiina would be denied access into several life skill programs because of her diagnosis. Monica said that they would continue to receive denials from the coordinators and she shared an example of the type of thing she would hear from them, “I’m really sorry but we are not equipped staff wise to deal with her seizures. She is a high risk student and a real liability”. She went on to share with me her feelings and also what a typical response from her would be, “I felt like they were talking about Kristiina as if she was a car or a piece of property!! The kind denial emails were always a slap in the face that angered me. I would fire back a nasty email stating how unfair it was to Kristiina to be denied and that it was them losing out in the long run for not giving her a chance.” Who could blame her for her feelings of frustration?
There was an event that brought much sadness to Monica and Kristiina and it had to do with an old friend of Monica’s. Her friend’s name was Lindsay. Monica had hired her to be Kristiina’s PSW and she performed this function a couple of times a week. Kristiina really enjoyed their time together. They would go shopping and at one point, Lindsay introduced Kristiina to a church based group called The Friendship Club. They would, for example, do things such as going bowling together as a group. Kristiina had been seizure free for almost a year and a half as of December 2017 but that would soon change as tragedy struck both families. Here it is in Monica’s own words, “I had been getting Kristiina ready to go out with Lindsay, as we did every Wednesday evening. When Lindsay didn’t show up or text us to cancel, we didn’t know what to think. The next day, we found out that Lindsay had struggled with her own dark demons for sometime and had lost the battle. I was devastated!! What was I going to tell Kristiina? I took a couple days to come to terms with the news myself before I broke the news to Kristiina. We explained to Kristiina that Lindsay had looked fine on the outside, but was sick on the inside, and she had passed away. We told Kristiina that Lindsay was very sorry and that she loved Kristiina very much.”
Lindsay was much more to Kristiina than just her Personal Support Worker. She was Kristiina’s good friend and she was someone that was loved and trusted, just like family. Monica said that it was obvious that the stress associated with the news was too much for Kristiina. She became angry and upset over it and as a result, she suffered a seizure the next morning. The seizure left her worn out for the next few days. Monica said that Kristiina has never completely gotten over the event. This is certainly understandable.
As April of 2018 rolled around, a really good thing would happen. Monica would learn about a day program that would show great promise for Kristiina and she would learn about it from one of her momma friends on Facebook. Monica went almost straight to the program and talked to the coordinator whose name was Bill Murray. She had a lengthy conversation with Bill and, much to her amazement, she found out that he knew what Batten Disease was in detail. This is because one of the former, long time clients there had the disease. Ironically, it was the family of the mom that had initially provided Monica with all of the information about BDSRA and Batten Disease. Monica said that it felt as if this was all meant to be and, in fact, it was as Kristiina was accepted into the program on a trial basis. In time, it would prove to be a great fit for her. The name of the program is Accent Music Therapy and it resides in Burlington, Ontario. Monica says that Bill Murray and the staff there have handled Kristiina’s seizures like seasoned professionals. Perhaps the other day programs could learn a lesson from them! Monica is so thankful for the opportunity that has been presented to Kristiina by Bill.
Monica says that, in many ways, life for them is just like any family. Adam works hard and does a great job of providing for his family. Kristiina’s big brother Matthew lives outside the family home while Khloe and Sammantha still live with mom and dad. They both attend school. For Monica, there are all of the normal responsibilities. Housework and preparation of meals are a big part of her day but the biggest job is being a mom. Specifically, a mom to three daughters. One is a warrior princess and that of course brings with it special challenges. Monica stated that Kristiina cannot be left alone for more than 30 minutes at a time and so she needs to be vigilant. Their activities as a family has to take Kristiina’s special needs into consideration.
The Bearrmans have to be prepared for anything and they need to refrain from activities and conditions that may trigger a seizure in Kristiina. Their social life is affected because most people either do not understand their situation or they are uncomfortable with being around a person with special needs. Both Adam and Monica each have a few friends that they socialize with and their closest family members give them lots of love and support. This would include Monica’s mom Helen and sister Janet. Adam’s parents and other family members are a part of the Bearman’s support system as well. One very noteworthy individual is Adam’s sister and her name is Krystal (Bearman) Blackborow. Krystal had moved in with the Bearman family about a year ago and their relationship has since blossomed. I will let Monica tell you what she means to Kristiina and the family in her own words, “She’s always there for our family. She’s grown very protective of Kristiina, as she is of all her nieces. She helps me out a lot with the girls! I’m so glad I live with my sister-in-law. she’s my best friend! We love her!” That is, of course, a wonderful thing!
There is nothing that this family would not be willing to give up for Kristiina. Monica says that her love for her daughter is unconditional. She is completely empathetic towards Kristiina as she continues to teach Monica so much about the important things in life. Knowing that her time with Kristiina may be limited makes each day count towards forming priceless memories. Monica stated that each smile, each giggles, each kiss, and each hug are priceless to her. Kristiina is her princess and her presence in Monica’s life is a gift that she doesn’t take for granted. She reflects on what she sees in her daughter and what she has been taught about life through her circumstances, “I admire her (Kristina) for her strong will and determination. She never quits trying to do her best! She loves to help everybody! She has this spark about her that is indescribable!! She’s funny and loves attention! She’s my hero! It’s hard to think to think about the future when you’re not sure about what’s to come. Adam has helped me deal with the anxiety that arises in me when I think about the future. I have learned there is no sense in worrying about tomorrow. We take life one day at a time and live for today with no regrets and no looking back. There will always be challenges in life. We do our best to deal with them and just take it as it comes.”
It would be difficult to not consider the things that Batten Disease has taken from Kristiina and her family but Monica says that they have a lot to be thankful for. Kristiina still has her eyesight and her ability to walk and talk! She is able to eat and drink by mouth and any Batten parent will testify to the fact that this is a big deal. As is always the case, a Batten parent thinks about what it would be like to lose their child to this cruel and relentless disease. Like many of the families that battle Battens, the Bearman's cling to the hope that is provided by current treatment that could be made available. Here is what Monica had to say about the subject, “We are hopeful that one day Kristiina will receive the life changing enzyme therapy. For now, we will advocate for her right to quality of life and we will educate others about this disease in hopes of Health Canada approving the treatment that she so desperately needs and deserves. This whole situation has also opened our eyes to the sad realization that these treatments and cures, not only for Batten’s Disease, are more so about the politics and money involved.”
I was flattered by the fact that Monica approached me at this years Batten conference and introduced herself to me. She had been a regular reader of my blog and she wanted to work together in doing Kristiina’s story. Monica is another incredible mommy! There was so much going on at the moment that she approached me and I had failed, at that time, to walk to their table to meet Kristiina. My huge mistake. Hopefully, next year if I can make it to Denver. Looking back at it now, I had seen Kristiina (or Krissy) in the midst of all of the Batten kids and I could tell that she was a crowd favorite. This, I can tell from what I have seen, and also from What I have been told. This being that Kristiina is entirely special.
I know that it is often difficult for Batten parents to recount the experience that is the Batten Journey. This includes sifting through old photographs that help to paint a picture of what life was like before Batten Disease. As I was close to finishing this story, eight children had gained their wings in the span of about two weeks. Flying away together as a group seems to happen frequently with Batten children and I know that the community was shaken when it happened this time. Batten parents were hugging their kids extra tight when this took place. Monica was also deeply affected by this loss and she had to power through near the end of working with me. She has my profound respect and appreciation for this. Kristiina is doing so well and will continue to battle. Advocating for her treatment is of the greatest importance. These kids (and sometimes young adults) are so special and it is difficult for me to find words that are adequate to describe how I feel. The parents, however, know for themselves how these warriors tug at your heart.
I am a friend of, and an outsider to the Batten community. I still do not know, nor can I fully understand what it is like to be on a journey such as Batten Disease. With every new story, I remain amazed by the care that is displayed and the love that is undying. Another ordinary family that has been asked to do something that is extraordinary. Nobody will impact the lives of this family like Kristiina will. She will forever be a part of what makes up the whole and the impact of her life on others will be without end. Such a princess is she!
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
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