“I couldn’t hear anything else after I heard the word “terminal”. No parent should ever hear that their child is dying! All my hopes and dreams for my little 4 year old were just crushed .... My heart broke in a million pieces that day. I remember running to the bathroom where I fell to my knees and just cried, drowning in my tears.”
Victoria’s Mom and Advocate
There is no way that I can know personally, however, I try my best to understand. The word empathy comes to mind. A true Empath is a highly sensitive individual. These people have an ability to sense what people around them are thinking and feeling. It’s like they are able to feel what others are experiencing. I don’t know that I fit into that category completely. It’s so easy to be self absorbed and to fail to be concerned about others. Yes, I do try my best to understand and this all started to take place after I first became aware. Aware of what you may ask? Well, it happens to be children that battle rare diseases. Children are by nature beautiful. Their little faces are yet unmarked by the worries and concerns that come our way as we travel through life. They look so innocent in their ways, even if a bit mischievous in their actions. Our hearts ache when we know that a child is battling through something that should be reserved for those of us that are aged. Things like dementia should not impact someone that is just starting their young life. Most people pay no attention to something like this unless it impacts their family directly. Most are not even aware when it comes to something like rare and fatal childhood disease. Sure, somewhere in the recesses of their minds is the reality that things like this exist. However, these types of things only have an impact on those that have to deal with them directly. That is unless people take the time to look beyond themselves and their own surroundings. And still, one needs to first, be made aware.
My writing first began when I was made aware concerning a little girl who battled something called Batten disease. Following her life and legacy was an eye opener and it changed my life. The plight of these kids, as well as their parents and siblings, consumes my thinking. There are other subjects that I could write about, but no others can I write about with the same amount of passion. I have shared with people repeatedly concerning my own son who has special needs. For a long time now, I have had a sensitivity towards these special people. This is due to the connection that I feel with Benjamin. When the time was right, and this little girl with Batten came into my life, my world was changed and I began to write. What gets to me is the details. It is so very true that greater awareness towards rare diseases is important and that is part of the reason for the effort that I put forth. However, what really drives me is that I feel that I have this opportunity to tell others concerning the details. That is the details that tell others about the love that is poured out towards these children and the impact that they have on people. Obviously, there is always a certain amount of sacrifice involved in caring for those that can’t care for themselves. The task can bring with it a multitude of frustrations. My own son has taught me much about service and sacrificial love. However, what I see in parents of kids with rare and fatal diseases extends beyond anything that we have been through as a family.
We knew almost right away that we had a special case on our hands when it came to Benjamin. We also knew why that was. Things are different for the parents of a child with a disease that is rare and fatal. In their case, receiving the diagnosis for their child blindsides them. Who would ever consider the fact that something like that could happen? Who would have ever thought that a set of symptoms that had developed were part of something so terrible? The life that was once known, or imagined, is changed forever. All of a sudden, the joy of parenting becomes mixed with grief and heartache. The grieving process begins for someone that is still present and that someone is an innocent child. Loneliness and confusion are part of the initial shock but those things will soon give way. This happens as the family learns, they are not alone. Rather, they are part of a community that they previously knew nothing about. That community is there to lend its support and they become like family to the ones who now share in the experience. It seems like such a whirlwind of events has taken place as the puzzle pieces have worked their way together. That couple that once fell in love is now the parents of a child with a rare set of special needs. Life is different but it is still one that is worth living. Your purpose now, involves helping one that battles. That one is a most special son or daughter. There is now an opportunity to love in a way that was previously unknown.
We are heading towards another story where a transformation of sorts takes place. Grief and despondency ultimately give way to a renewed strength and resolve to do the very best that can be done. This, in order to provide a type of love that is undying. This in turn, creates a bond that is stronger than any other. Things will be seen that are not experienced by most everyone and that is what makes these families so special. Difficulties that are “normal” are expected, but ones that are not become part of a life together in the case of these families. These stories are similar in many respects, although many of the details can be different. It is almost always the case that it all begins as two people meet and fall in love. The attraction is physical in the beginning. As time continues, thoughts of a future together start to enter a couple’s thinking. Sometimes, two people meet and they know right away. The person that they are with was meant specifically for them. Almost always, a life together involves raising a family. This next story is about a young couple from the great state of Florida. They met one another in the normal kind of way, finding each other during the normal course of life events. They would meet at work and would be attracted to each other. Nowhere in their thinking as they did meet, was the possibility that they would one day face a set of rare circumstances together. This would all take place as they became parents and this story is about the little family that they would become.
Jenn Fuller first asked me about doing a story about her daughter near the time that Victoria had been diagnosed with Sanfilippo Syndrome. Sanfilippo is part of a broader group of diseases known as MPS (Mucopolysaccharidosis). Sanfilippo is also known as MPS III. Just like all of the forms of MPS (and Batten disease), Sanfilippo Syndrome is what is known as a lysosomal storage disorder. Without giving a lot of detail here, let’s just briefly explain these disorders. The human body uses enzymes to break down the wastes that are made in cells of a person’s body. This is especially important in the human brain. This process is dealt with in something that is called a lysosome. If one of these important enzymes is missing, the body stores up these wastes instead of breaking them down. This in turn, causes damage to the cells because the wastes remain in the lysosomes. Surprisingly, there are thousands of these types of disorders. Most people would never have knowledge of something like this unless it had impacted their life directly. The lives of the Fuller family have been impacted in a big way by Sanfilippo Syndrome. Jenn thought that participating in my blog about rare kids would be beneficial. It, however, took her a little while before she was in a place where she thought that she could share the details with me. I’m so glad that the time arrived and that I heard back from her. I am grateful that she had kept it in mind to work with me. I appreciate the opportunity to have their family’s story in this blog that is about kids that are rare and so very special. Let’s get started.
Two People Meet
Jenn Moreno grew up in Hollywood, Florida and would eventually attend McArthur High school. Like so many young girls, her desires for her future included marriage and a family. You never know at what time or in what place that you will meet that special someone. Life continues on and when the time is right, things start to fall into place. That person that you are meant to be with crosses your path and your personal story of life and love starts to develop. In Jenn’s case, things would come together quite quickly. This would start to happen for her as she was beginning a new job at a Chili’s restaurant, there in her hometown. The year was 2005 in which Jenn would begin work there at Chili’s. She didn’t know it at the time, but it was during her orientation at work that she would meet the person that was meant for her. It was Jeff Fuller that would perform the orientation on that, her very first day at work. Jenn was immediately attracted to Jeff. In her own words, she thought that he was “cute”. The two of them would do well together, however things were not progressing at the speed that Jenn had desired them to. She would actually be the one that would ask Jeff out on their first date and Jeff, would of course say yes. The rest, as Jenn would say, “is history”. The couple really hit it off from the beginning and would become inseparable. Their relationship would only continue to grow as they thought about a future together. Jenn would tell me that they perhaps did things a little backwards for some people. However, this couple knew that their individual futures involved being together for a lifetime as husband and wife.
That being said, it would be three years after they began to date that they would buy a house together in 2008. Their goal was to save money and fix up their home in preparation for their wedding and having children. They had a plan and they were putting it into action. It took a little while for the big proposal to take place but it would happen. The year was 2012 and the couple was vacationing at a favorite spot in Fort Myers, Florida. They were staying at a beach front hotel and this gave Jeff an opportunity to propose to Jenn in a way that was magical and that would provide a special memory for the both of them. In the sand below their balcony, Jeff wrote, “Will you Marry me?” He then told Jenn that there was something that he wanted her to see outside. Of course once seeing what Jeff had written, Jenn would accept his proposal. After all, marriage and a life together was what they had always had in mind. And so it was that they would become man and wife the following year. They got married on their 8-year anniversary of starting to date each other. The big day was on July the 13th of 2013. When it came to their plans for marriage, Jeff and Jenn had a desire to have a larger wedding and celebration. They would do just that, having many friends and family members in attendance. The day was perfect and they looked forward to everything that would follow in the life that lay ahead for them.
Starting a family would be the next big step for Jeff and Jenn but the couple wouldn’t rush into having children. Instead, they had decided to first enjoy married life for a while. The newlyweds wanted to travel for a bit before it was time to settle down and start a family. They would do just that, going on cruises and road trips while enjoying every minute that they had together. This all afforded them opportunity to fall deeper in love and also, to have more time to discuss their future. Talk about an extended honeymoon, that was the way to do things. More time would pass and then, it was time to think about starting their family. It would be at the beginning of 2015 that Jenn would present the news to Jeff. She was pregnant with their first child and you just know that the two of them were excited that she was. Everything that they had wanted for a life together was falling into place and as expected, things would go well as Jenn carried their first child. The months would pass without complication and the day would come. Jenn would spend a total of 15 hour in labor. It was during this time that some concerns would arise. One was that the couple’s little bundle to be had turned “sunny side up”. The other was that since Jenn’s water had broken 12 hours prior, there was the possibility of infection setting in. Because of this, the doctor decided that an emergency C-section was the way to go. It would be on October the 11th of 2015 that Jenn would be prepped for surgery. Their very first child was born and that child was a girl. Their beautiful baby girl would make her appearance at Joe DiMaggio Children’s Hospital in Hollywood, Florida ... she was oh, so perfect!
This little girl was the most beautiful thing that this set of parents had ever laid eyes on. She had all of her fingers and toes and she was covered in brand new baby skin. Their new little bundle was born a healthy 7 pounds and 4 ounces and she was 19 inches long. Jeff and Jenn named their little girl Victoria Marie. She was flawless and had passed every newborn test that the medical staff had performed. The feelings that this couple had shared at that time was like nothing else that they had ever experienced. Jenn explains, “We were overwhelmed with happiness. When I held her for the first time, everything I was worried about with being a mom went out the window. My heart was so full of love for this tiny little human that had just made me a mommy.” There was nothing, at that time, that would lead anyone to believe that this kind of happiness would continue. This would hold true with each new achievement and milestone that was reached. The future was bright as everything continued to progress in this couple’s life. Whereas the center of each other's attention was their better half, things would now be different. This baby, that was already so beautiful, would now develop into a most beautiful little girl. She would quickly become the princess of the house and she was the center of her parents world. Jeff and Jenn were once free to go wherever they wish but they now had someone else that they were responsible for. Baby seats and strollers, not to mention cribs and Victoria’s first bed, would all be essential equipment.
Life as a Family
Every bit of change that took place brought new experiences that were welcomed with much joy. This is what a life together was supposed to be about. There were outings together as little Victoria took in each and every new experience. Much time would be spent with family and friends and Victoria quickly became a priceless and precious little person to everyone that knew her. In addition, this little girl would only cause her mom and dad to grow closer together in the bond of marriage. Jenn would tell me that when it came to Victoria’s development at the beginning, she stayed “pretty much” right on track. In other words, she was achieving most of her milestones at the time she was expected to. The only concern early on was that Victoria was a little slow with learning how to walk. There is a big variable when it comes to the age that different children begin to walk. Some start walking before 9 months while others don’t take flight until 18 months or older. The average age for independent walking in a child is about 12 months old. Victoria did not begin to walk on her own until 20 months of age. Was Victoria just at the end of the range for when children begin to walk or was there something to be concerned about? It would be difficult, especially as first time parents, to believe anything other than she was just taking her time with developing in this area. Other than this, there was not much else to be concerned about at that time.
There would, however, soon be some medical concerns that would arise. Each one individually, would not necessary be a cause for worry. All were the “normal” type of concerns that might come along in a child’s early health. One thing in addition to the concern over Victoria’s late mobility was that she was getting frequent sinus infections. This was found to be caused by fluid build up in her ears. As a result, Victoria would have her adenoids removed and tubes placed in her ears. This was taking place at the time that Victoria was two and a half years old. She was also having an issue with speech delay and it was felt that this was caused by the issues with her ears. It makes sense that it would create a problem if a child couldn’t hear well at the time he or she was learning to speak. There still was nothing going on with Victoria that seemed overwhelming. She just needed a little extra help. Every child is different and minor health issues often arise. Issues like this can all be worked out in time. This little girl was so loved and the extra effort was just a labor of affection. One reason why Victoria’s health issues could have been a challenge was because it was at this time that the Fullers were expecting their 2nd child. Just as it had been with Victoria, Jenn had carried her next baby without any major complications. It would be one month prior to the delivery of Jeff and Jenn’s next child that Victoria would have her first set of tubes placed in her ears. I can only imagine that this was a very busy time for the Fullers.
Everything that Jeff and Jenn had planned for their future had been thought out and discussed. They had wanted one more child and that hope had become a reality as Jenn gave birth to their 2nd bundle of joy. It would happen in September of 2018 that she would give birth to a baby boy. Jeff and Jenn now had a son and they would name him Nicholas Michael. He would soon be affectionately known as Nicky and just like his big sister had been, Nicky was a beautiful and perfect baby. He had all of his fingers and toes and it only took one look to know that Nicky was going to be an adorable little man. How much more perfect could things be at this time? A beautiful little girl and now a charming little man. Yes, there were a couple of issues with Victoria but it seemed that they were things that could be overcome with time. They were just, in the figurative sense, growing pains. As Jenn would put it to me, their family was now complete and the Fullers were as happy as any couple could be at that time. When it came to Victoria’s feelings about her new little brother, she was overjoyed, She thought that baby Nicky was her own little doll. Sibling love was in full effect. All of the changes and challenges that are associated with having a new baby in the house were present again in the Fuller house. All of these things however, were most welcomed. Usually, it is the case that little babies have to learn to adjust their sleep patterns so that they are like everyone else's. That was to be expected in Nicky’s case.
As things would turn out though, Victoria was having problems sleeping through the night at the time that Nicky was brought home. Was this related to the problems with her ears? Was it related to all of the excitement over the new baby? Time would tell and life would continue on. The speech delay that the family was experiencing with Victoria would require some help. She was given some early intervention with a speech therapist and that seemed to help. The Fullers were seeing some improvement in their daughter’s speech as she was entering pre-kindergarten in January of 2019. Victoria loved going to school. She would sing every morning as she walked there and would say hello to the people that she met along the way. How cute is that? There was no reason to be anything but optimistic about her growth and her future at this time. Such a special little girl and a big part of a special young family. Victoria would do well in her first term of pre-k and Summer break would come and go. As she returned to school in August, it would be noticed that some things were a little different with her behavior. Victoria was all of sudden really hyper and would run away at school. How concerning this had to have been for the school staff. It had to be very concerning for Jenn as the teacher of Victoria’s class had started to voice her concern over Victoria’s regression. All of sudden, the joy over being a family and having baby Nicky in the house was being mixed with some new concerns. What was it that was going on with Victoria?
A Family Challenge
Jenn explains a bit about what her thoughts were after talking with Victoria’s teacher, “As first time parents we often try to list the reasons ‘why’ your child is acting this way. Maybe summer vacation set her back, or she started not sleeping through the night so maybe she’s tired and cranky .... or she’s acting out because there’s a baby at home and she might be jealous.” Was it just that too many changes had taken place over a short period of time and they were overwhelming Victoria? So many questions had to be answered. Could it have been something like true hyper-activity or the early signs of autism? Jenn would tell me that she was losing sleep over what her daughter was going through. She was worried in her “mom gut” as she was seeing the regression. It was slow as it continued but Jenn was able to take notice. Gradually, abilities continued to slip away from Victoria. In the area of her speech, words had disappeared and they continued to do so as Jenn took notice. These two children that the couple had brought into the world were now a huge part of life together. Aside from all that living life entails, Victoria and her little brother were the center of their parents attention. When things aren’t right with one of your kids, that child becomes the subject of a lot of conversation. This as you try to figure out what may be taking place. Jenn shared, “Jeff and I would often talk and think maybe it’s autism… I would see other 4 year olds and think ‘Victoria isn’t doing that’ but you are not supposed to compare, every child develops differently…”.
It was Jeff and Jenn’s hope that Victoria would eventually catch up. I think that still, there was this gut feeling that something out of the ordinary was taking place with Victoria. Every child does develop at their own pace, but there is also a normal range. Sometimes, differences can indicate that there is a bigger problem that needs to be addressed. Jenn said that at this point, she was voicing her concerns and opinions to the pediatrician and Victoria’s teacher. Questions like this were asked, “Will Victoria catch up?” and “Is there something wrong with my daughter?” No one was seeing any red flags of great concern. It was just felt that Victoria was developmentally delayed. As January of 2020 rolled around, something would take place that would shake Jenn’s world. There was something “SERIOUSLY WRONG” with Victoria. Jenn’s own words were that something was wrong with her “BABY”. This being Victoria, her firstborn child and only daughter. Jenn describes what she was seeing that was so alarming, “…. all of a sudden Victoria couldn’t talk, she would stare at us blankly, like she wanted to say something but couldn’t.” This kind of regression would seem to indicate that there was somehow, something very serious happening inside Victoria. There had to be something dramatically wrong going on to cause such a severe regression of skills. All of sudden, this perfect little family story was beginning to include details concerning a serious situation.
Jenn stated that they had felt a sense of panic and had rushed to get in with a neurologist. Who could blame them for taking such a course of action as quickly as possible? Victoria would be seen by a neurologist in early February of 2020 and would be given the label, or initial diagnosis for autism. The doctor stated that the type of regression that the Fullers were seeing was a red flag for the disorder. Although some of the behaviors that the Fullers were seeing in Victoria may have lined up with a diagnosis of autism, she didn’t completely fit the description. For instance, she still maintained good eye contact and she was still very sociable/lovable. Jeff and Jenn accepted the early label but it still didn’t sit right with Jenn. She just had this feeling that there was more to her daughter’s situation than just autism. It would be difficult for the neurologist to be completely sure of this diagnosis and not wanting to take any chances, he would recommend genetic testing. More would take place quickly as an initial appointment with the geneticist would take place on February the 27th. Jenn would tell me that upon looking at sweet Victoria for the first time, the geneticist would come to an initial opinion. He had seen something in Victoria that led him to believe that she had a type of “enzyme disorder”. The doctor would have a blood draw taken from Victoria in order to have genetic testing done. It would be four weeks later that the Fuller’s would receive a call from the medical assistant working with the geneticist.
She stated that the doctor wanted to speak with them as soon as possible. Jenn’s statement concerning that call is telling. She simply said, “... at that moment we knew it was bad news …. just didn’t know how bad.” As all of this was going on, the world was in the process of shutting down because of the COVID-19 pandemic. That meant that the follow-up appointment with genetics would take place by means of a video conference. This would happen on March the 26th of 2020. That was the day that Jeff and Jenn’s world would be rocked and changed forever. They would be told that their beautiful little girl had a condition called Sanfilippo Syndrome. Jeff and Jenn were also told that it was the most severe form of the disease and that Victoria would not live beyond her teen years. The Fuller’s listened with stunned expressions as the doctor gave them the news that would bring them utter dismay. How could the news be any worse? The word terminal is the last thing that Jenn remembers hearing as they listened. All of a sudden, everything that she dreamed about for her daughter’s future was taken away by the reality of their situation. This is a 4 year old girl that we are talking about. Understandably, both parents were crushed. Jenn’s mamma’s heart was completely broken and the tears would flow for days to come. Something such as this had never entered their thinking. How could this be?
Embarking on a Journey
As the news continued to set in it would lead to depression. Who would expect anything different at this point in the Fuller’s journey? All of sudden, everything had changed in the couple’s outlook for their future. Jenn describes what she was feeling after the time that they had returned home, “I couldn’t even look at Victoria without crying. It hurt me so much to watch her laughing and jumping and all I can think about is that this disease is going to take that all away from her. My innocent little child has no idea how much she will suffer and I couldn’t face her sweet face at that moment.” At a time when so many were alarmed over what was taking place on the planet, Jeff and Jenn had something going on that for them, was just crushing. Neither of Victoria’s parents were working at the time because of the pandemic and this gave them the opportunity to just process and grieve. Their grieving was for someone that was still with them. Jenn said that Jeff would grieve differently than she would. He would do so by keeping busy, doing projects around the house. She shared that he pushed through the process and would be the rock that the family needed. They were at that point, and still are, a team in this journey ... balancing each other out in a way that helps them to deal with things. Of course there were times that they would hold each other and just cry in the quiet of the night. There is a processing of emotions for every family that is given this type of a diagnosis for their child.
The darkness that held Jenn in it’s grip lasted for about a month. This was until she discovered that, as a family, they were not alone. It’s amazing the difference it makes when we surround ourselves with people who understand what we are going through. People who have gone through the same trying experience. They are able to share what they have learned and are able to give advice while understanding what is being felt. That is what Jenn would find as she discovered the people that make up the Sanfilippo Syndrome community on Facebook. What a huge pick-me-up this would be for her as she got to know many of the people that share the same experience. Of course, Jenn found Glenn and Cara O’Neil of the Cure Sanfilippo Foundation to be an amazing couple. They were responsible for giving the Fullers a lot of guidance at a critical time. In addition, Jenn would meet a lot of the moms that are fighting the same battle. One mom in particular really stood out and that mom would be Erica McKenzie. Erica and family had already experienced much with her own daughter Reagan being previously diagnosed with Sanfilippo. She was able to help Jenn in a way that the average mom would not be able to and the connection between them was instantaneous. Erica and her husband Kirk had already been involved with a clinical trial for Reagan at the time that these two ladies would meet on-line. Erica was willing and able to answer every single question that Jenn had. As far as Erica was concerned, there were no stupid questions as she understood completely what Jenn was going through.
Just like with the O’Neils of Cure Sanfilippo, the Mckenzies had been in the same situation at one point. Again, one of the biggest things that Erica had provided Jenn was just the knowledge that she was not alone. Of course, there would also be many close family members and friends to give comfort and support following the diagnosis. Jenn does a great job of describing the kindness they received, “Our friends and family did make a point after they received the diagnosis that they wanted to come see Victoria right away and soak her in, and some of our friends cooked us dinner knowing that we weren’t even thinking about food at all. People that I haven’t spoken to in years reached out to us, checked on us and sent us their best. It was well appreciated, the amount of support and love we have from friends and family, near and far.” With the help of so many that showed kindness, and those that would become like extended family, the Fullers would go through a recovery process. It’s not like the grief would completely go away … it’s just that they would begin to cope with things after receiving all of the support that came their way. They received strength from all of those people that came alongside. With this, the realization that this mommy needed to take action set in. With the following, Jenn briefly described what her thinking was at that point, “‘We are on borrowed time now and I can’t stay in bed sad.’ Mommy mode took over and my next steps were … what can I do to help my baby?”
Jenn started to look into possible clinical trials and found that there was one that was taking place in Spain. This would turn out to be another way in which Erica McKenzie was able to be a help to Jenn. The McKenzies had already traveled with their daughter Reagan to have her treated in the same trial. Erica was able to furnish the Fullers with information about the trial and also, who to contact. As things would turn out, the team running the trial would want to test Victoria to see if she would qualify. So even though travel opportunities were limited in the Summer of 2020, Jeff and Jenn would make their way to Spain with Victoria by their side. They had “a glimmer of hope”. Most always, there is no limit for what a family will do to help their child in a situation such as what the Fullers were facing. Before they knew it, Jeff and Jenn were present with Victoria in Spain. Jenn described what it was like for the duration during their stay, “We spent 10 days in Barcelona Spain watching Victoria kick and scream as doctors and nurses poked and prodded my little bug. Every day was a new test, I held back my tears, as watching my baby go through all this at just 4 years old was just so hard to see.” Full of hope, Jeff, Jenn, and Victoria would leave Spain and return to Florida to await the findings of the testing. The results would come back to the family three weeks later and what they would learn was not what they had hoped to hear. Before we continue, let me stop and explain something for those who may not already know.
Need for Transformation
The trial in Spain involved a procedure called gene replacement therapy. In the case of gene replacement, scientists create a working copy of the missing, or nonworking gene. The gene is then placed in something called a vector. A vector is like an envelope that is used to carry the gene to the places that it needs to go within the body. The vector can be created by making changes to a naturally occurring virus. That is what scientists use to allow the gene to travel to the places that it needs to go. The Fullers would receive word back three weeks after their return and it stated that the trial would not work in Victoria case. You see, she was found to carry the antibodies for the virus that was being used for the vector. That means that her body had the ability to fight and neutralize the virus that would be used to carry the gene to the places that it needs to go. How completely disheartening. It would be possible that another vector could be found at a later date but the Fullers could only wait and hope this would happen. This, because there were no other trials that Victoria would qualify for under these circumstances. Jenn described in brief, her disappointment but also speaks of the resolve that she would feel towards their situation, “That was a hard pill to swallow, another gut punch but this time I would force myself to keep going. Wiping my tears away and every day, being there for Victoria and Nicky because no matter what, they are STILL here RIGHT NOW.” Way to go mom! One additional thing that needed to be accomplished along the way was to have little Nicky tested for the presence of Sanfilippo Syndrome.
The good news was that the results would come back negative but the results did show that Nicky is a carrier of the gene. Most all of the stories that I have written about rare families include certain details that are similar. There is always a transformation that takes place. It usually ends with a resolve to do the very best that can be done for the child that is affected. The heartache continues but the will to move on is strengthened with time. This special child needs and deserves every bit of attention that is received. A love that is profound and undying is seen in the details and a bond that could never be broken is formed over time. These families press on because that is what is in the best interest of everyone. You never know how strong you can be until you have no other choice (not my words). Jenn described how Sanfilippo Syndrome has changed their perspective as parents and how their life has changed as a family. What she had to say sounds so familiar to me as their perspective is very similar to what I’ve read while doing many other stories. She started her comments like this, “As a family, Sanfilippo has changed us completely. We now try to enjoy every moment with each other, take lots of pictures and videos, and try very hard to not let our minds wander to the future....” There is so much in these words that could be unpacked. Like the others, Jenn states that there are too many things that are unknowns. They just take each day, one day at a time while not looking too far ahead. Every sweet memory that is formed is captured. Every smile and bit of laughter is enjoyed. Perhaps, we could all learn something here by observation.
The Fullers are joining hands with others in the community that they have found themselves being a part of. They will help to raise funds for potential trials that may help Victoria and the other little warriors. They will also take part in spreading awareness concerning Sanfilippo Syndrome. The biggest mission that they are on is to help Victoria to experience the best quality of life and to experience the most funnest times possible! Jeff and Jenn are both realists that have been through the type of transformation that gets written about often. Jenn explains her current thinking with this, “... at the end of the day, us as parents .... all we want is for our children to be happy. Love is all you need, there is no room for anger or sadness as that just takes away time that we don’t have.” Is Victoria not a beautiful little girl? Yes, she certainly is. In fact, the Fullers are another beautiful young family with a story to tell. These kids are both special and amazing and they cause their families to become one in the same. Now Victoria is, in so many ways, just a normal little girl and a warrior that is unaware. Jenn told me that Victoria loves Elmo and jumping while music is playing (The Fullers use music and singing songs a lot to help Victoria in maintaining her skills). This little girl is full of smiles and energy, just like you would expect her to be. She is both precious and priceless. After seeing a picture of the siblings together, I asked about Victoria’s relationship with her little brother Nicky. It looks like it is a special one. Victoria loves to look on as her little brother plays with his tablet.
I made the statement to Jenn that there must be lots of sibling love in the house. Her stated response was “Mostly, LOL.” Knowing that I needed an explanation, She went on to tell me that Nicky, being just 2 and half years old, does not understand why Victoria likes to give him death hugs all of the time. Poor Nicky. You will one day understand! Telling me this conjurs up images in my mind that are priceless. Many are the pictures that can be seen of this family out together on sunny Florida days. They are enjoying fun times together as they grow in their love for one another. Little Victoria has a lot of life yet to live and who knows what the future may hold. There is a heroic group of research scientists out there that are working on cures like the type that Victoria needs. Who knows, perhaps they are looking for the vector that will work as this is being written. In the meantime, there are many things to be treasured along the way. A lot of love and joy to be experienced as Victoria’s family walks alongside her. I often say things such as, “these kids are the most special, and the most amazing.” I say these kinds of things repetitively because I believe that they are true and I want to place emphasis on them. Their resilient ways and the way that they change people’s lives can be clearly seen if we take notice. That is why they need to be talked about and that is why I take the time to do these stories. All my best to little Victoria and her dear family. Sincerely,
Blogger and Advocate
“Sashka teaches me how to love, how to live, how to cherish every moment. Every smile, every great day when he is not in pain is a blessing! Through my touch he knows that he is safe. Through my voice he knows that he is loved.”
Sashka’s Mom and Advocate
The entire experience passed by so quickly. Life seemed so chaotic back then and I guess that I didn’t take the time to stop and think about it. Having children is something that most people look forward to as they are thinking about the course that their life will take. Having children is something we were made to do. The desire to have them was placed within us and having kids fills us with so much pride and joy. Yes, there are also challenges along the way. With children, we have the opportunity to help shape a person's
character, which will hopefully bring future success. Along the way, there are all those memories that will be made as we watch our kids grow. We live life together and share in the experience of being a family. That is what we look forward to when we decide it is time to start building a family. For my wife and I as a couple, having children was something that was just part of a life together. We both had siblings from each of our individual families and our friends were having children. It was just the normal thing to do. I can’t believe how fast the time passed us by and here we are. We are empty nesters. Well, almost. The two oldest of our three boys have left home and have made lives for themselves. Our number three son is different because he was born with special needs. He is still with us after being born 30 years ago. Our life revolves around him in a big way. The writing that I do is centered around families that have children who battle rare and fatal diseases. We have had challenges along the way with our son Benjamin. However, we have never been given a diagnosis for him that creates the kind of heartache that is faced by these families.
Yes, there were chaotic times for us as a young family. Keeping a roof over our heads in an expensive area to live was a challenge. Home life had its challenges as well. There were a lot of doctor appointments in the beginning. This wasn’t unexpected once it was revealed that we were parents to a baby boy with special needs. We had never considered that this could be a possibility, but we should have. There was some family history that we were aware of. For parents of a child with a rare and fatal disease, like Batten, things are different. Both parents have to be carriers of the same defective gene and when they are, it is usually without knowing it. This fact is what makes their situation one that is so rare. The news comes out of nowhere once the diagnosis is reached. The symptoms seen in their child leads the parents on a search for answers and the conclusion brings a kind of heartache that is not known by many. Dad and mom often receive more than one diagnoses during their search with each one being progressively worse than the previous. The final outcome brings the news that their child has a disease for which there is no cure and to make things even worse, the disease is fatal. It is termed as being rare because the number of cases is small when compared to the percentage of total population. One child being affected is one too many and when all are added together, the number is too great to ignore.
An American Dream
A Batten family story could be played out anywhere in the world. Batten, and other rare diseases, know no boundaries. They don’t discriminate when it comes to things like a person’s income or social status. When it comes to a couple’s dreams for their future, children are a major part of that. This is the case no matter what country or place that a family resides. Having children is what young women often dream about. As well, it is something that men look forward to when they meet the girl that will be the one for them. When it comes to living in the United States, we all look forward to taking part in what is called the American dream. The things that make that kind of dream possible can exist in most any developed country but the term is truly American. Finding success through hard work and creativity in order to enjoy life together. Doing so in a place where freedom and opportunity exists. Having a family and having the means to support that family financially is a big part of making this happen. You can live in a place where both the surroundings and the people are beautiful but if opportunity exists elsewhere, your desire to be in that place increases. Moving to such a place can be exciting and adventurous and building a life in that place can be a dream come true. And again, part of fulfilling that dream includes having a family with the one that you love. We all expect challenges along the way. Our hope is that they are ones that can be met at the time that they arise.
We rarely consider the possibility that something overwhelming might come our way. Things that we dream of can be interrupted when we receive the news that brings shock and complete dismay. A life that we have helped bring into this world has been given a diagnosis that involves a rare disease. The world has not ended but ours has been turned upside down. The life that was once known has been changed forever. That child that was already so loved begins to create a love in us that is like none other. I have a question. Is it possible to love another person so much that it hurts? It absolutely is and that is what happens when a diagnosis like Batten is given to an innocent child. The love that was already so strong is mixed with griefed over what we are told the future holds. The bond is intensified by what has transpired. I have heard from more than one who has told me what it is like to return from that consultation with a doctor. Or even worse, what it is like as that phone call has ended. This child who looks perfectly healthy is anything but that. There are things that are lying in wait. A journey begins that was previously unknown of and it is one that is taken as a family. Shock and confusion ultimately gives way to resolve and will to fight. The details are what I have taken notice of and they are the reason that I write. A love that is profound and undying. Each one of these little warriors produces feelings in us that are more powerful than any other.
As it is when these stories take place, they almost always begin as two people meet. The details of how they come together may vary but the result is always the same. Sometimes, the attraction is instantaneous. Two people fall in love and they become inseparable. Cristina Berliba talks about the day that she and her husband would meet. Cristina said this, “I remember that day of December… It was a snowy and cold day. We met at a birthday party and since that day I knew that Andrei would be my husband. I had that feeling when you know that is your person. You can feel it with your skin.” It is amazing to consider how two people can start their individual lives with their own plans for the future. Once they meet, their lives take a different course and that course includes the person they have met. This next story is so much like that. The story includes life in America but it doesn’t start out that way. This story actually begins in a country named Moldova. The country is bordered between Romania and Ukraine in Eastern Europe. A country that relies heavily on agriculture as the major part of its economy, Moldova has been through many geopolitical changes over the course of its history. This is where Andrei Berliba and Cristina Budis would meet. It would take some time for both of their paths to meet as each of them was busy developing careers of their own. Both of them had plans for their future and Cristina’s involved a desire to be in a legal profession.
Cristina was a student in the Law program at the Moldova State University in Chisinau. While a student there, and in the course of time, Cristina would be given the opportunity to come to America and work during the summer. This she would do for two summers, both in 2010 and 2011. Denali, Alaska is a ruggedly beautiful place with many sites to see and visit. This is where Cristina would be exposed to the American culture and she would become impressed with what she had seen. She was impressed by the hardworking nature of the people that she came in contact with. Alaska is a good place to meet people such as this! Speaking of hard work, Cristina set her own example for others to see while she was in Alaska. While there, she worked at the Grande Denali Lodge and the famous King Salmon restaurant. Up at four o’clock in the morning and at work by five, her days were very busy. She worked as both a cashier and a hostess. I can only imagine that it was fun for both Cristina and the people that she was in contact with. This, as they got to know her and to hear about her background. In her own words, “I had two crazy summers with no sleep.” The experience of living and working in Alaska would leave an impression on Cristina and it was one that that would help shape her future. Cristina decided that she would like to live in America one day and that she should apply for the green card lottery. She did exactly that and then, forgot about it. Life goes on!
Meant for Each Other
This would take place before Cristina would meet her life partner Andrei. As far as Andrei was concerned, he had desired a career in law enforcement. It would be several years before their meeting that Andrei applied for and attended the police academy in neighboring Romania. He would attend in the city of Bucharest to be exact. Following the completion of the academy, Andrei decided to “try his fate” in a small town in Spain. He would live and work there for seven years before he and Cristina met on that fateful day in December. It would be after the time that Cristina had been to Alaska, and had applied for the green card, that her and Andrei would meet. As Cristina has already told us, she just knew in her physical being that Andrei was the one for her. I can only imagine that Andrei had been feeling the same attraction towards Cristina. They were meant for each other! These two people who previously had goals of their own to achieve now had each other. Andrei and Cristina had a life together and they would be married. Upon becoming man and wife, Cristina would move to Spain with Andrei. It would only be a couple of months later that while there, the couple would be surprised with the news that they had won the green card. So many changes, so quickly and now, a big opportunity. They did what most any couple in their situation would. They moved! Cristina explains with the following, “We moved to America in 2013. A young couple, with two pieces of luggage ... with no money in our pockets but with a big American Dream!”
How many times have we heard stories, so similar? A young couple meets and falls in love. They begin a life together that is so full of potential and in this case, it would all take place so quickly. Before they knew it, Andrei and Cristina were beginning a new life together in America. They would relocate to the city of Sacramento, in the state of California. The young couple was ready to begin a life together, starting in a rather adventurous manner, in a brand new place. How exciting! Andrei would find work and they would set up a household to begin forming their new life. Certainly, having children would be a big part of the life that they would want. That part of their American dream would begin to take place. This as Cristina would soon be expecting their first child. Growing up in Moldova, Cristina had fallen in love with the name Alexandru. She did so at a young age. This is the name that she and Andrei agreed to give their first born child in the event that Cristina had a boy. Call it a mother’s intuition, or whatever you will. From the first day that Cristina received the news that she was pregnant, she felt within herself that she would have a boy. She would carry her baby full term and with no major complications up to the time that she was to give birth. It would be the first week in November of 2014 that the big day would arrive. Cristina had some hard work in front of her. The labor with her newborn to be would be a long and difficult task as Cristina would spend 32 hours in labor. As time continued, it would then be decided that she would undergo an emergency C-section. This in order to deliver the baby safely.
So it would be on November the 2nd of 2014 that Andrei and Cristina’s first born son would make his entrance into their lives. The scene would play out at Mercy General Hospital in Sacramento, California. It’s no wonder that their baby boy had such a hard time exiting his mom’s tummy. He came into this world weighing in at an even 10 pounds and he was 22 inches in length. He was a big baby and at the same time, he was a beautiful little guy. Cristina’s own words describe her feelings as Alexandru made his appearance, “...he was so precious and sweet that it was worth all my suffering.” Yes, he would be given the name that Cristina had adored since her youth but he would come to be known as Sashka. This name is a derivative of Alexandru in their native language, which is Romanian. Baby Sashka was a flawless little man, having all of his fingers and toes. Sashka was a pretty baby and he was oh, so healthy! Andrei would get to meet his brand new son right after he was born but poor mom would have to wait a while. The doctor, after all, had to finish with her surgery. It would be so worth the wait and holding her baby for the first time was a special experience. Part of a dream come true! So much had taken place in a short period of time. Andrei and Cristina had found one another and being together was the right thing for each of them. Then came the chance to move to a place that was full of opportunity and adventure. How must it have been at this point as baby Sashka made his entrance into the couple’s lives.
Did I mention the fact that he was a pretty and perfect baby? I did but it is worth mentioning one more time. Both Andrei and Cristina were so happy and their life together in America was really taking shape. Just as one would expect, Sashka would grow into the toddler stage of his development. Everything about him was adorable to those who loved him. His parents enjoyed watching him as he crawled and then as he stood with the aid of the things around him. He displayed all of the signs of progress that parents so enjoy seeing. Sashka was on his way to becoming a charming little man and one day soon, he would take flight as he began to walk. This happened at one year of age. There were no major concerns as Sashka visited the doctor for his check-up at 2 years old. After all, he was so healthy. One question that the doctor had at that time was concerning the number of words that Sashka was currently using. To this, Cristina would reply that Sashka was only using a few words. Why would this be a concern? Well, it is normal for a child to be using up to 20 words by the age of 18 months. Some will use as many as 50 words by the time that they reach the age of 2 years. Certainly there are those that would use less at that time. This was something to keep an eye on. Would Sashka have a more difficult time in the area of developing his speech? Some children are just slower in this area of their development. Sometimes, being slow to develop in this area can be an indicator that there is a larger problem that may exist. However, there was no reason to be overly concerned at this point.
A Beautiful Life
Life was beautiful for this little family and things would begin to get even better. This is because Cristina would become pregnant with their 2nd child. Once again, both Andrei and Cristina were excited. Joining them in the excitement this time around was little Sashka. He was soon to have a playmate in the house. Their life together was shaping up to be a regular, yet special, American life together. Things would again go according to plan and Cristina would carry her baby full term. The happy occasion would take place in April of 2017. Sashka was two and a half years old when the family was joined by another baby boy. This one they would name Dan and like his big brother, he was an adorable little man in the making. Sashka loved his little brother from the very start and he was so excited to have him in the house. This is not to mention the fact that Dan’s mom and dad were excited as well. Cristina described the interaction between the two brothers and what the mood was as a family at the time, “He (Sashka) was so happy. He loved to give lots of kisses and hugs to his brother Dan, all day long. We were the happiest family in the world.” A mom and dad that loved each other immensely and two very special little boys with so much to look forward to. This was a perfect little story in the making as this couple’s dreams were coming true. How exciting it had to have been to be building a life together as a young family in what was to them, a very special place.
Every family will have it’s struggles along the way and it doesn’t matter where we live or where we are from. Things just happen. Hopefully, most of the trials experienced will be overcome but sometimes, things come along that are more difficult to handle. Nobody wants to see a child experience trying circumstances but this sometimes happens too. Soon, the Berliba family would begin to experience things that the average family will not see as they are growing together. Just like a lot of parents will, Cristina remembers dates that are significant to the journey that they find themselves on. It would be on the 19th of July in 2017 that an event would take place. This one would shake them as a family as that would be the day that Sashka would have a seizure. Cristina would tell me that it was “the scariest day” in their lives and who could not understand how that would be. Emergency services would be called and they would come quickly. I certainly can see how traumatic of an experience this would be. Sashka would have to be intubated to make sure that his breathing was not obstructed and he would then be transported to UC Davis Hospital in Sacramento. His condition was termed Status Epilepticus. Sashka’s stay would last several days and several different tests would be performed in that time. They included a lumbar puncture, blood and urine tests, and MRI, and x-rays. In addition to all of that, they would perform an EEG on Sashka. All of the testing would return with a negative result except in the case of the EEG. This test showed that there had been seizure activity that was taking place.
Andrei and Cristina would then take Sashka home with him being given the diagnosis of epilepsy. At that time, this seemed like the worst news that parents could ever be given concerning their child. Epilepsy however, is something that can be dealt with. Their Sashka would have challenges over the course of his life and this they would have to share as a family. At this point, Sashka had a diagnosis for a condition that he could take with him into adulthood. He could live a near normal life with special circumstances. Epilepsy, of course, can be controlled with the proper medication and a person can function when the seizures are under control. In the very near future, Sashka would be placed under the care of a neurologist and he would be prescribed the seizure medication called Keppra. This would keep the seizures under control for a short time and this must have brought some relief to the Berliba’s in the immediate. There was, however, more that would soon take place. Cristina remembered the exact day that the seizures would return. Sashka would experience his second seizure on November the 4th. This would be just two days after Sashka’s third birthday. A time that should be filled with happiness was instead, a time for deep concern. When the seizures returned, they did so with a vengeance. Sashka was having a grand mal seizure every four days.
How helpless this must have made Sashka’s parents feel as all of this took place. The grand mal seizures were ferocious and so difficult to watch. The life that had been simple and so sweet was now becoming so much more complex. Of course, the neurologist was being consulted during all of this and a follow-up appointment was attended. The staff at UC Davis is highly qualified and Sashka’s neurologist, Dr. Benko, would be included in that category. He knew that there was a possibility that more was taking place than just simple epilepsy. His recommendation was that Sashka should undergo genetic testing to see if there was something more going on. Was there more than just simple epilepsy taking place? Andrei and Cristina would, of course, want to know if there was more to the situation and they would seek to have the testing performed. They would hit a bit of a short road block in their search as they were told that their insurance company would not cover the cost of the testing. How could this be? Well, because of the official diagnosis that Sashka had already received, the insurance company didn’t feel that the testing was necessary. How could it be that he didn’t qualify? Cristina would do her research and she would find out that it was cheaper to have the testing done in Russia than it was in the United States. And so it was that they would travel to Moscow to have the test performed. Sashka’s seizures had begun on the 19th of July in 2017 and they would travel to Moscow on February the 8th of 2018.
Finding the Answer
I can only imagine that the trip was an anxious one with all that was taking place with Sashka. Not only that but the waiting period to receive the result must have seemed like a long time. It would take roughly five months to receive the findings which would come near the end of the month of June. What the test would reveal took Cristina completely by surprise. It must have been so difficult to read the findings while alone at their home. Sashka had CLN2 Batten disease. That is what was causing the seizures and that is why they were so relentless. Sashka had a metabolic disorder that Cristina had never heard of. In fact, she didn’t know that such a thing even existed. Most any parent would never consider the fact that such a thing could possible. How could this kind of thing be happening to such a special young family? Genetic disorders know no boundaries and they do not discriminate. There had to be so many questions that had to be answered at that point. How could something like this be happening? Life was so perfect just months before and now, the situation had become so complicated. The Berlibas would return to the doctor's office, just days later with the results of the tests in hand. Cristina described what took place as they returned to the doctor’s office. She spoke about the doctor’s response as he looked at the test results, “In three days we rushed into the Neurologist's room and showed the results to our doctor. He was speechless ... first time in his life he had a patient with this diagnosis. First time in his career of more than 20 years.”
A doctor that was well versed in genetic disorders had never come across a patient with CLN2 Batten disease. Cristina shared that she can’t remember all of the content of that conversation with Dr. Benko but she does remember one thing for certain. That is that the doctor advised her and Andrei to “make memories''. How badly does it hurt when you hear something like this? Hearing that making memories is the only thing that you have any control over. Just like so many parents that get a similar type of diagnosis for their children, the Berlibas were filled with shock and hopelessness. The doctor’s response as things unfolded showed an attitude of caring compassion. He would try his best to do everything that he could. As Cristina would tell me, “He promised us that he is going to do the possible and the impossible to take care of our boy.” He would, in fact, help Andrei and Cristina to find something that would have a major impact in their son’s battle against CLN2 Batten. This, however, would not take place right away and the Berlibas would have time to consider what it was that they were facing. This was their new reality as they came home and looked at their Sashka as he was playing. Cristina describes what her thoughts and feelings were at that time, “We came home and were looking at him, Sashka was jumping and running around, playing with his little brother, smiling and enjoying his favorite French fries. And I couldn’t even imagine that in a few months, our Sashka will not be able to walk, to sit, to talk and even to hold his neck up.”
Cristina would refer to what had happened as a nightmare and one that they could not wake up from. Then and still now, they cannot make it go away. For many years, families that were given a diagnosis such as CLN2 Batten had no hope at all. There could only be hope, perhaps, because of the fact that there are researchers that are working towards a cure. Regardless, families will always come to the realization that they must do everything that is possible to help their children fight. The parents find the strength to continue because that is the only choice that they have. This is where Andrei and Cristina would find themselves but there would be good news almost right away. The timing of the diagnoses carried one positive. That was that the FDA had recently approved a new therapy. The therapy used a solution named Brineura for infusions to replace the enzyme that Sashka was missing. The children involved receive the infusions to the brain through a port that is surgically emplaced in their head. This would hopefully improve the quality of Sashka’s life while giving him greater longevity. Dr. Benko called Cristina and urged her to get Sashka into the program for enzyme replacement therapy. What must have seemed like a whirlwind of events led to much confusion on Cristina’s part and she knew that she needed more information. With this, she says as much, “I was so confused, I didn’t understand what he was talking about, how can an infusion go into the brain. I realized that I must study much more about this genetic disease.”
The referral would have to be made to Children’s Hospital of Orange County because this was the only hospital in California that was doing the infusions at that time. This would be a great distance away from Sacramento but it was this family’s only hope in the immediate. Andrei and Cristina would meet with the responsible physician at CHOC and he would make a referral to UCSF Benioff Hospital in Oakland California. The distance between Oakland and Sacramento was much closer. This would be welcomed and much appreciated by the Berlibas. At UCSF Benioff, they would meet with the doctor who explained everything concerning the infusions and how they work. He would include how often Sashka would receive the infusions and what the risks would be. The surgery to implant Sashka’s port would be scheduled for the month of September in 2018. How difficult would it be for the parents of a child as young as Sashka… to imagine their small son or daughter going through such a procedure? The entire ordeal would be taxing on mom and dad and especially on Sashka. There would be many tears shed over what was taking place. Even so, getting started with the process of beginning the infusions would be successful. To me, this is a heavy commitment on the part of any family that is involved and all of these have my respect. The infusion is given every two weeks and that means another trip to the hospital each time. The entire experience of getting started must be surreal before the time in which things become routine. That is how the process would begin for the Berliba family.
Different and Still Beautiful
It was essential that the Berlibas get Sashka’s little brother Dan tested to make sure that he would not be affected by Batten disease. The very good news was that his test came back showing that he did not have Batten. Still in his future will be testing to see if he is a carrier of Batten disease. For now, all is okay for brother Dan! It was not long after the diagnosis that Cristina would learn that their family belonged to an entire community worldwide. A community that she had not even known existed. Previously, she and Andrei had not even considered that a rare genetic disorder could be affecting their son. Now, they knew and they would learn of the support that was available online and through organizations like the Batten Disease Support and Research Association (BDSRA). Groups that existed through social media would become part of their support as Cristina communicated with families that were going through the same thing. The Berlibas would learn that they were not alone in this battle, although, it still feels like a lonely existence at times. Time has passed as this story is being written and Sashka has battled. He has battled like you would expect a little warrior to, showing a type of resilience that only these kids can, but it has been difficult. The entire thing has been difficult on both Sashka and his parents. There is no love like a mother’s love and this has been especially hard on Cristina. With this, she talks about the difficulty at the beginning and up until this time, “It was hard, it was so hard to see how he was fighting, how he was crying… but now, after two years of infusions, is harder to realize that he is no longer able to fight, that pain is normal for him…”
There are always challenges that are associated with being a parent of someone with special needs. As parents to someone with special needs ourselves, we can testify to this fact. It has to be known however that parents who have a child with a rare disease will face some severe challenges not known by many. What was expected for a life together here in the United States has been changed dramatically with the diagnosis of Batten. Cristina described what most of her days are like and how those days have changed because of Batten, ”Of course, our life changed a lot. Medical appointments are a must. Infusions, physical and occupational therapies .... there are follow-ups with Neurologists, Rheumatologist, Dentist, Orthotic, and the Pediatrician. My day is busy and every mom of a special needs child knows about it. There are dozens of phone calls for medication, refills, fighting for medical equipment, etc.” Sashka’s daily routine takes away the time that would be spent socializing or going on vacation but he is so worth the sacrifice of time. He fights every day and he deserves parents that are there to help him in his battle. He has that and he has the love of his parents. A type of love that is profound and undying. It is all overwhelming at times for Cristina but she keeps fighting. Andrei is her rock and a great support to his family. Much of their strength comes through fighting the fight together.
These are sweet people. We traveled to Denver to the Batten family conference in July of 2019 to spend time with friends and acquaintances within the Batten community. Each one of these conferences is a special event, although they can be overwhelming too. So many young warriors, with their families, in one place. We spent a lot of time in the lobby as the families were coming and going and I will never forget seeing Andrei and Cristina coming through the entrance with Sashka. Although I had not gotten to know them that well before that time, they walked up to us immediately. They greeted us warmly and said hello. We were able to spend time together and later they even invited us to join them at a microbrewery that is in a neighborhood behind the hotel. That was a special occasion and one that will always provide special memories. Woven in between all of the conversation was talk about Sashka. So many times have I written about the intensity of the bond between the kids that battle and the people that care for them. When somebody needs you, I mean really needs you, for the most basic care, and beyond .... and that is mixed with grief over their plight. There is a type of love that develops and it is mixed with heartache. That is a love that hurts. There is no way that a person in that position would give up or give in but it can be difficult when you love someone that deeply. I could see the mix of emotions on Cristina’s face as we talked. This is a special little family for sure and what they are experiencing can bring difficulties unlike many others. It is a privilege to know them and to also know a bit about their story.
Their big American dream is still alive but the journey that the Berlibas are on has provided some real challenges. Life is quite a bit different than what was expected but there are still wonderful things to experience. Sashka is teaching his dad and his mom about a type of love that is like none other. He is teaching his family about the things that are important in life and how to take each day, one at a time. With every smile from Sashka, his parents smile in return because they then know that he is having a good day. Every day in which they know that he is free of pain is “a blessing” to them. Sashka knows that he is loved through the touch of those that love him. He “knows that he is safe”. Whereas Sashka would once love on his little brother Dan, Dan is now loving on Sashka and that is certainly very sweet to see. Either way, they are both feeling the love. Yes, there are many great dads out there in the Batten community and beyond but I am still a firm believer that there is no love like a mother’s love. There is nothing like a mother’s touch. It is a maternal thing that belongs only to them. Through Cristina’s touch, Sashka “knows that he is safe” Through Cristina’s voice, “he knows that he is loved.” Cristina is there for Sashka and she always will be. She can provide the things that he needs, being his hands, his feet, and his eyes. Cristina is strong because Sashka needs her to be. She says, “How can I be weak? I keep moving just because he needs me.” I know that Andrei is a strong support for his entire family.
Do I have to say it again? I will regardless of whether or not I need to. These are special people. I am happy to have this opportunity to honor them in this way. My hope and prayer would be that they would be able to continue in the pursuit of their dreams. I am so happy to have met them even if it is because of a difficult set of circumstances. I use words like “special” and “amazing” when trying to describe the kids that battle. They remain so resilient, giving life everything that they can through strength combined with childlike innocence. These families are special because they have been asked to do that which most of us will never know anything about. Because of this, more people need to be made aware. Once you give a little piece of your heart to these children, they come close to taking all of it. At least, that is what has happened to me. Cristina says concerning Sashka, “He is my little sunshine with a big, big heart! I love him more than I ever could imagine! I’m gonna fight for him until my last breath. Sashka is my life!” I believe you Cristina. You’re a special mom, one of two special parents. It was so nice to meet the three of you in Denver and I hope to see you all again someday! Sincerely,
Blogger and Advocate
Mai jos este pentru prietenii noștri care vorbesc română
O iubire care doare - Povestea lui Sashka
„Sashka mă învață cum să iubesc, cum să trăiesc, cum să prețuiesc fiecare moment. Fiecare zâmbet, fiecare zi în care nu suferă este o binecuvântare! Prin atingerea mea știe că este în siguranță. Prin vocea mea știe că este iubit ”.
~ Cristina Berliba ~
Mama și avocatul lui Sashka
Întreaga experiență a trecut atât de repede. Viața părea atât de haotică pe atunci și cred că nu mi-am luat timp să mă opresc și să mă gândesc la asta. A avea copii este ceva la care majoritatea oamenilor visează, deoarece se gândesc la cursul pe care îl va lua viața lor. Da, există și provocări pe parcurs. Cu copiii, avem ocazia să ajutăm la modelarea caracterului unei persoane, ceea ce va aduce, sperăm, succesul în viitor. Pe parcurs, creăm amintiri pe măsură ce ne urmărim copiii crescând. Trăim viața împreună și împărtășim din experiența de a fi o familie. La asta așteptăm cu nerăbdare când decidem că este timpul să începem să construim o familie. Pentru soția mea și pentru mine ca un cuplu, a avea copii era ceva ce făcea doar parte dintr-o viață împreună. Amândoi aveam frați din fiecare dintre familiile noastre individuale. Nu-mi vine să cred cât de repede ne-a trecut timpul și iată-ne. Suntem un cuib gol. Ei bine aproape. Cei doi dintre cei trei băieți ai noștri au plecat de acasă și și-au făcut familii. Fiul nostru cel mic este diferit pentru că s-a născut cu nevoi speciale. El este încă cu noi după ce s-a născut acum 30 de ani. Viața noastră se învârte în jurul lui. Poveștile pe care le redau aici sunt concentrate în jurul familiilor care au copii care luptă cu boli rare și fatale. Am avut provocări pe parcurs cu fiul nostru Benjamin. Cu toate acestea, nu i s-a dat niciodată un diagnostic care să creeze genul de durere cu care se confruntă aceste familii.
Da, au fost vremuri haotice pentru noi, ca o familie tânără. Păstrarea unui acoperiș deasupra capului nostru într-o zonă scumpă de trăit a fost o provocare. Viața a avut și provocările sale. La început, au fost o mulțime de întâlniri medicale. Acest lucru nu a fost neașteptat odată ce s-a descoperit că suntem părinți ai unui băiețel cu nevoi speciale. Nu am considerat niciodată că aceasta ar putea fi o posibilitate, dar ar trebui să o avem. Erau niște istorii familiale de care eram conștienți. Pentru părinții unui copil cu o boală rară și fatală, cum ar fi Batten, lucrurile stau diferit. Ambii părinți trebuie să fie purtători ai aceleiași gene defecte și atunci când sunt, este de obicei fără să știe. Acest fapt face ca situația lor să fie una atât de rară. Știrile apar de nicăieri odată ce diagnosticul este găsit. Simptomele observate la copilul lor îi conduc pe părinți în căutarea răspunsurilor, iar concluzia aduce o durere imensă, care nu este cunoscută de mulți. Tata și mama primesc adesea mai multe diagnostice în timpul căutării lor, fiecare fiind progresiv mai rău decât precedentul. Rezultatul final aduce vestea că copilul lor are o boală pentru care nu există niciun remediu și, mai grav, boala este fatală. Este denumit ca fiind rar deoarece numărul cazurilor este mic în comparație cu procentul din populația totală. Un copil afectat este prea mult și, când te gândești câți asemenea copiii sunt în lume, numărul este prea mare pentru a fi ignorat.
Un vis american
O poveste de familie Batten ar putea fi oriunde în lume. Batten și alte boli rare nu cunosc limite. Nu discriminează atunci când vine vorba de lucruri precum venitul sau statutul social al unei persoane. Când vine vorba de visele unui cuplu pentru viitorul lor, copiii reprezintă o parte importantă a acestui lucru. Acesta este cazul indiferent de țara sau locul în care locuiește o familie. A avea copii este ceea ce visează adesea femeile tinere. De asemenea, este ceva la care bărbații așteaptă cu nerăbdare atunci când întâlnesc fata care va fi cea pentru ei. Când vine vorba de a trăi în Statele Unite, cu toții așteptăm cu nerăbdare să participăm la ceea ce se numește visul american. Lucrurile care fac posibil acest tip de vis pot exista în majoritatea oricărei țări dezvoltate, dar termenul este cu adevărat american. Găsirea succesului prin muncă grea și creativitate pentru a ne bucura de viața împreună. Facând acest lucru într-un loc în care există libertate și oportunități. A avea o familie și a avea mijloacele necesare pentru a susține această familie din punct de vedere financiar este o parte importantă a acestui lucru. Poți locui într-un loc în care atât împrejurimile, cât și oamenii sunt frumoși, dar dacă există oportunități în altă parte, dorința ta de a fi în acel loc crește. Mutarea într-un astfel de loc poate fi interesantă și aventuroasă, iar construirea unei vieți în acel loc poate fi un vis devenit realitate. Și din nou, o parte din îndeplinirea acelui vis include o familie cu cea pe care o iubești. Cu toții ne așteptăm la provocări pe parcurs. Speranța noastră este că acestea sunt cele care pot fi îndeplinite în momentul în care apar.
Rareori ne gândim la posibilitatea ca ceva copleșitor să ne vină în cale. Lucrurile la care visăm pot fi întrerupte atunci când primim știrile care aduc șoc și consternare completă. O viață pe care am ajutat-o să aducem în această lume a primit un diagnostic care implică o boală rară. Lumea nu s-a încheiat, dar a noastră a fost răsturnată. Viața care a fost cunoscută cândva a fost schimbată pentru totdeauna. Copilul care era deja atât de iubit începe să creeze în noi o dragoste care nu este ca nimeni alta. Am o intrebare. Este posibil să iubești o altă persoană atât de mult încât să doară? Este absolut și așa se întâmplă atunci când un diagnostic ca Batten este dat unui copil nevinovat. Iubirea care era deja atât de puternică este amestecată cu mâhnirea din cauza a ceea ce ni se spune că viitorul nu ne va aparține. Legătura este intensificată de ceea ce s-a întâmplat. Am auzit de la mai mulți părinți care mi-au spus cum este când își aduc aminte cînd li s-a dat diagnostic. Sau și mai rău, cum este, după acea vizită la medic și ce întorsătură ia viața de atunci încolo. Nu poți concepe că acest copil care arată perfect sănătos poate suferi o boală fatală. Există lucruri care stau în așteptare. Începe o călătorie despre care nu se știa până atunci și năvălește peste acea familie. Șocul și confuzia lasă în cele din urmă loc de rezolvare și o voință aprigă de luptă. Detaliile sunt ceea ce am luat în seamă și sunt motivul pentru care scriu. O iubire profundă și nemuritoare. Fiecare dintre acești războinici mici produce în noi sentimente mai puternice decât oricare altul.
Așa cum au loc aceste povești, ele încep aproape întotdeauna când doi oameni se întâlnesc. Detaliile despre cum se reunesc pot varia, dar rezultatul este întotdeauna același. Uneori, atracția este instantanee. Doi oameni se îndrăgostesc și devin inseparabili. Cristina Berliba vorbește despre ziua în care ea și soțul ei s-au întâlnit. Cristina a spus acest lucru: „Îmi amintesc acea zi de decembrie ... A fost o zi cu multă zăpadă și friguroasă. Ne-am întâlnit la o petrecere de ziua de naștere și din acea zi am știut că Andrei va fi soțul meu. Am avut acel sentiment când știi că este persoana ta. O poți simți cu pielea ta ”. Este uimitor să luăm în considerare modul în care doi oameni își pot începe viața individuală cu propriile lor planuri de viitor. Odată ce se întâlnesc, viața lor urmează un curs diferit și acel curs include persoana pe care a cunoscut-o. Povestea include viața în America, dar nu începe așa. Această poveste începe de fapt într-o țară numită Moldova. Țara se învecinează cu România și Ucraina în Europa de Est. O țară care se bazează puternic pe agricultură ca parte majoră a economiei sale, Moldova a trecut prin multe schimbări geopolitice de-a lungul istoriei sale. Aici s-au întâlnit Andrei Berliba și Cristina Budiș. Ar dura ceva timp pentru ca ambele drumuri să se întâlnească, fiecare dintre ei fiind ocupat să-și dezvolte propriile cariere. Amândoi aveau planuri pentru viitorul lor, atât Andrei cât și Cristina aveau studii în domeniul jurisprudenței.
Cristina a fost studentă la Drept la Universitatea de Stat din Moldova din Chisinău. În timp ce era studentă, Cristinei i s-a oferit ocazia să vină în America și să lucreze în timpul verii. S-a întâmplat timp de două veri, atât în 2010, cât și în 2011. Denali, Alaska, este un loc extrem de frumos, cu multe locuri de vizitat. Aici Cristina va fi expusă culturii americane și va deveni impresionată de ceea ce văzuse. A fost impresionată de natura muncitoare a oamenilor cu care a intrat în contact. Alaska este un loc bun pentru a întâlni asemenea oameni! Vorbind despre munca grea, Cristina și-a dat propriul exemplu pe care să-l vadă alții în timp ce se afla în Alaska. În timp ce era acolo, a lucrat la Grande Denali Lodge și la celebrul restaurant King Salmon. La ora patru dimineața era trezirea și la locul de muncă la cinci, zilele ei erau foarte aglomerate. A lucrat atât ca casieră, cât și ca gazdă lacresraurant. Îmi pot imagina doar că a fost distractiv atât pentru Cristina, cât și pentru oamenii cu care a fost în contact. Acest lucru, pe măsură ce au ajuns să o cunoască și să audă despre țara din care provine. Din propriile sale cuvinte, „am avut două veri nebune fără somn”. Experiența de a trăi și de a lucra în Alaska ar lăsa o impresie asupra Cristinei și a contribuit la modelarea viitorului ei. Cristina a decis că i-ar plăcea să trăiască într-o zi în America și că ar trebui să aplice pentru loteriaGreen Card. A făcut exact asta și apoi a uitat de asta. Viața merge înainte!
Înțeles unul pentru celălalt
Acest lucru ar avea loc înainte ca Cristina să-și întâlnească partenerul de viață Andrei. În ceea ce îl privește pe Andrei, el dorise o carieră în forțele de ordine. Câțiva ani înainte de întâlnirea lor, Andrei a absolvit Academia de Poliție din România. Pentru a fi exact, din orașul București. După finalizarea Academiei, Andrei a decis să-și „încerce soarta” într-un oraș mic din Spania. El a locuit și lucrat acolo timp de șapte ani înainte ca el și Cristina să se întâlnească în acea zi friguroasă de decembrie. Abia după ce Cristina fusese în Alaska și aplicase pentru Green Card, ea și Andrei se vor întâlni. Așa cum Cristina ne-a spus deja, știa că Andrei era bărbatul potrivit pentru ea. Nu-mi pot imagina decât că Andrei simțise aceeași atracție față de Cristina. Erau meniți unul pentru celălalt! Acești doi oameni care anterior aveau obiective proprii de atins acum se aveau reciproc. După ce a devenit bărbat și soție, Cristina s-a mutat în Spania împreună cu Andrei. Doar câteva luni mai târziu, când a fost acolo, cuplul ar fi surprins cu știrea că au câștigat Green Card-ul. Atât de multe schimbări, atât de repede și acum, o mare oportunitate. Au făcut ceea ce ar face majoritatea cuplurilor din situația lor. S-au mutat! Cristina explică următoarele: „Ne-am mutat în America în 2013. Un cuplu tânăr, cu două bagaje ... fără bani în buzunare, dar cu un vis american imens!”
De câte ori am auzit povești atât de asemănătoare? Un tânăr cuplu se întâlnește și se îndrăgostește. Ei încep o viață împreună care este atât de plină de potențial și, în acest caz, ar avea loc atât de repede. Înainte să știe asta, Andrei și Cristina începeau o nouă viață împreună în America. S-au mutat în orașul Sacramento, în statul California. Tânărul cuplu au început o nouă viață într-un mod destul de aventuros, într-un loc nou-nouț. Ce palpitant! Andrei își găsea de lucru și își înființau o gospodărie pentru a începe să-și formeze noua viață. Cu siguranță, a avea copii a fost o mare parte din visul pe carel-au avut. Acea parte a visului lor american a început săprindă contur. Asta întrucât Cristina aștepta în curând primul lor copil. Crescând în Moldova, Cristina se îndrăgostise de numele Alexandru. A făcut-o la o vârstă fragedă. Acesta este numele pe care ea și Andrei au fost de acord să-i dea primul copil născut în cazul în care Cristina ar fi avut un băiat. Spune-i intuiția unei mame sau orice vrei tu. Din prima zi în care Cristina a primit vestea că este însărcinată, a simțit în sine că va avea un băiat. Își va purta bebelușul pe termen și fără complicații majore până la momentul în care avea să nască. Ar fi prima săptămână din noiembrie 2014 când va sosi ziua cea mare. Cristina a avut ceva muncă grea în fața ei. Munca cu nou-născutul ei ar fi o sarcină lungă și dificilă, deoarece Cristina a petrecut 32 de ore în travaliu. Pe măsură ce timpul a continuat, atunci s-a decis că va fi supusă unei operații de cezariană de urgență. Acest lucru pentru a livra copilul în siguranță.
Așadar, pe 2 noiembrie 2014, primul fiu născut al lui Andrei și al Cristinei își va face intrarea în viața lor. Scena se va juca la Mercy General Hospital din Sacramento, California. Nu este de mirare că băiețelul lor a avut atât de greu ieșirea din burtica mamei sale. A venit în această lume cântărind 4,530 grame și avea o lungime de 56 de centimetri. Era un bebeluș mare și, în același timp, era un băiețel frumos. Cuvintele proprii ale Cristinei descriu sentimentele ei în timp ce Alexandru și-a făcut apariția, „... era atât de prețios și dulce încât merita toată suferința mea” Da, i s-ar fi dat numele pe care îl adorase Cristina încă din tinerețe, dar va ajunge să fie cunoscut sub numele de Sashka. Acest nume este un derivat al lui Alexandru. Baby Sashka era un omuleț fără cusur, având toate degetele de la mîini și de la picioare. Sashka era un bebeluș drăguț și era oh, atât de sănătos! Andrei avea să-și întâlnească fiul nou-nouț imediat după ce s-a născut, dar biata mamă va trebui să aștepte un timp. Medicul, după toate, a trebuit să termine cu operația ei. Ar merita așa așteptarea și a-și ține bebelușul pentru prima dată a fost o experiență specială. O parte dintr-un vis devenit realitate! Atât de multe se petrecuseră într-o perioadă scurtă de timp. Andrei și Cristina se găsiseră unul pe celălalt și a fi împreună era lucrul potrivit pentru fiecare dintre ei. Apoi a venit șansa de a te muta într-un loc plin de oportunități și aventuri. Cum trebuie să fi fost în acest moment în timp ce bebelușul Sashka și-a făcut intrarea în viața cuplului.
Am menționat faptul că era un copil drăguț și perfect? Am făcut-o, dar merită menționat încă o dată. Atât Andrei, cât și Cristina au fost atât de fericiți, iar viața lor împreună în America a prins contur. Așa cum ne-am aștepta, Sashka va crește în stadiul de dezvoltare a copilului. Totul la el era adorabil pentru cei care îl iubeau. Părinților săi îi plăcea să-l privească în timp ce se târâ și apoi în timp ce stătea cu ajutorul lucrurilor din jur. El a afișat toate semnele de progres pe care părinții le plac atât de mult să le vadă. Sashka era pe cale să devină un om mic fermecător și, într-o zi, în curând, va lua zborul când începea să meargă. Acest lucru s-a întâmplat la vârsta de un an. Nu au existat îngrijorări majore, deoarece Sashka l-a vizitat pe medic pentru controlul său la vârsta de 2 ani. La urma urmei, era atât de sănătos. O întrebare pe care doctorul o avea la acea vreme se referea la numărul de cuvinte pe care Sashka le folosea în prezent. La aceasta, Cristina avea să răspundă că Sashka folosea doar câteva cuvinte. De ce ar fi aceasta o preocupare? Ei bine, este normal ca un copil să folosească până la 20 de cuvinte până la vârsta de 18 luni. Unii vor folosi până la 50 de cuvinte până când vor ajunge la vârsta de 2 ani. Cu siguranță sunt acelea care ar folosi mai puțin în acel moment. A fost ceva de urmărit. Ar avea Sashka o perioadă mai dificilă în domeniul dezvoltării discursului său? Unii copii sunt mai lenți în această zonă a dezvoltării lor. Uneori, dezvoltarea lentă în acest domeniu poate fi un indicator al existenței unei probleme mai mari. Cu toate acestea, nu a existat niciun motiv pentru a fi prea îngrijorat în acest moment.
O viata frumoasa
Viața a fost frumoasă pentru această mică familie și lucrurile ar începe să se îmbunătățească și mai mult. Acest lucru se datorează faptului că Cristina ar rămâne însărcinată cu al doilea copil. Încă o dată, atât Andrei, cât și Cristina au fost încântați. De data aceasta i s-a alăturat entuziasmului micuțul Sashka. În curând avea să aibă un coleg de joacă în casă. Viața lor împreună se contura pentru a fi o viață americană obișnuită, dar specială, împreună. Lucrurile ar merge din nou conform planului. Ocazia fericită va avea loc în aprilie 2017. Sashka avea doi ani și jumătate, când familiei i s-a alăturat un alt băiețel. Pe acesta îl vor numi Dan și, ca și fratele său mai mare, era un om mic adorabil în devenire. Sashka și-a iubit fratele mai mic de la bun început și a fost atât de încântat să-l aibă în casă. Cristina a descris interacțiunea dintre cei doi frați și care era starea de spirit în familie la acel moment, „El (Sashka) era atât de fericit. Îi plăcea să-i dea o mulțime de sărutări și îmbrățișări fratelui său Dan, toată ziua. Am fost cea mai fericită familie din lume. ” O mamă și un tată care s-au iubit enorm și doi băieți foarte speciali, cu atâtea lucruri de așteptat. Aceasta a fost o mică poveste perfectă, în timp ce visele acestui cuplu se împlineau. Cât de incitant a trebuit să construiască o viață împreună ca o familie tânără în ceea ce era pentru ei, un loc foarte special.
Fiecare familie va avea lupte pe parcurs și nu contează unde trăim sau de unde suntem. Lucrurile se întâmplă. Sperăm că majoritatea încercărilor experimentate vor fi depășite, dar uneori apar lucruri care sunt mai dificil de manevrat. Nimeni nu vrea să vadă o experiență a copilului încercând circumstanțe, dar uneori se întâmplă și asta. În curând, familia Berliba va începe să experimenteze lucruri pe care o familie obișnuită nu le va vedea pe măsură ce cresc împreună. La fel cum o vor face mulți părinți, Cristina își amintește datele care sunt semnificative pentru călătoria pe care o parcurg. Ziua de 19 iulie 2017 i-a zguduit ca familie, deoarece aceasta ar fi ziua în care Sashka a avut prima criză. Cristina îmi spunea că a fost „cea mai înspăimântătoare zi” din viața lor. . Serviciile de urgență au fost chemate. Cu siguranță văd cât de traumatică ar fi această experiență. Sashka a fost intubat pentru a se asigura că respirația nu a fost obstrucționată și apoi a fost transportat la spitalul UC Davis din Sacramento. Starea sa a fost denumită Status Epilepticus. Am fost internați patru zile cît s-au efectuat mai multe teste diferite în acel moment. Au inclus o puncție lombară, teste de sânge și urină, RMN și raze X. În plus față de toate acestea, ei ar efectua un EEG. Toate testele au fost cu rezultat negativ, cu excepția cazului EEG. Acest test a arătat că creierașul lui Sashka avea o activitate epileptică mărită.
Andrei și Cristina l-ar lua apoi pe Sashka acasă, fiind diagnosticat cu epilepsie. La acea vreme, aceasta părea a fi cea mai proastă veste pe care părinții ar putea să o primească cu privire la copilul lor. Cu toate acestea, epilepsia este ceva care poate fi rezolvat. Sashka lor ar putea avea provocări de-a lungul vieții sale și ar trebui să le împărtășească ca familie. În acest moment, Sashka a avut un diagnostic pentru o afecțiune pe care ar putea să o ia cu el până la maturitate. Ar putea trăi o viață aproape normală cu circumstanțe speciale. Desigur, epilepsia poate fi controlată cu medicamentele adecvate și o persoană poate funcționa atunci când convulsiile sunt sub control. În viitorul foarte apropiat, Sashka va fi pus sub îngrijirea unui neurolog și i se va prescrie medicamentul pentru epilepsie numit Keppra. Acest lucru ar menține convulsiile sub control pentru o perioadă scurtă de timp. Cu toate acestea, au existat mai multe lucruri care aveau să aibă loc în curând. Cristina și-a amintit de ziua exactă în care s-au întors convulsiile. Sashka a avut a doua sa criză pe 4 noiembrie. Aceasta ar fi la doar două zile după a treia zi de naștere a lui Sashka. Un timp care ar trebui să fie umplut de fericire a fost, în schimb, un timp pentru îngrijorare profundă. Când s-au întors convulsiile, au făcut-o cu răzbunare. Sashka avea o mare criză la fiecare patru zile.
Cât de neajutorat trebuie să-i fi făcut pe părinții Sashka să se simtă pe măsură ce toate acestea au avut loc. Crizele mari au fost feroce și atât de greu de urmărit. Viața care fusese simplă și atât de dulce devenea acum mult mai complexă. Desigur, neurologul a fost consultat în timpul tuturor acestor lucruri și a urmat o întâlnire de urmărire. Personalul de la UC Davis este foarte calificat, iar neurologul lui Sashka, Dr. Benko, ar fi inclus în această categorie. Știa că există posibilitatea să aibă loc mai mult decât simpla epilepsie. Recomandarea sa a fost ca Sashka să fie supus testelor genetice pentru a vedea dacă se întâmplă ceva mai mult. A avut loc mai mult decât simpla epilepsie? Andrei și Cristina ar dori, desigur, să știe dacă există mai multe situații și ar căuta să se efectueze testarea. Părinților li s-a spus că compania lor de asigurări nu va acoperi costul testării. Cum ar putea fi aceasta? Ei bine, din cauza diagnosticului oficial pe care Sashka îl primise deja, compania de asigurări nu a considerat că testarea este necesară. Cum s-ar putea să nu se califice? Cristina își va face cercetările și va afla că este mai ieftin să se facă testele în Rusia decât în Statele Unite. Și așa s-ar fi deplasat la Moscova pentru a face testul. Convulsiile lui Sashka începuseră pe 19 iulie 2017 și urmau să călătorească la Moscova pe 8 februarie 2018.
Îmi pot imagina doar că călătoria a fost una neliniștită, cu tot ce se petrecea cu Sashka. Nu numai asta, ci perioada de așteptare pentru a primi rezultatul trebuie să fi părut mult timp. Ar fi nevoie de aproximativ cinci luni pentru a primi concluziile care aveau să se apropie de sfârșitul lunii iunie. Ceea ce ar dezvălui testul a luat-o pe Cristina complet prin surprindere. Trebuie să fi fost atât de dificil să citești concluziile în timp ce erau singuri acasă. Sashka a fost diagnosticat cu boala CLN2 Batten. Acesta este motivul pentru care au fost cauzate crize și de aceea au fost atât de incontrolabile. Sashka avea o tulburare metabolică de care Cristina nu auzise niciodată. De fapt, nu știa că așa ceva există chiar. Majoritatea părinților nu ar lua în considerare niciodată faptul că așa ceva ar putea fi posibil. Cum s-ar putea întâmpla acest lucru cu o familie tânără atât de specială? Tulburările genetice nu cunosc limite și nu discriminează. Trebuiau să fie atât de multe întrebări la care trebuia să se răspundă în acel moment. Cum s-ar putea întâmpla așa ceva? Viața era atât de perfectă cu doar câteva luni înainte și acum, situația devenise atât de complicată. Familia Berliba avea să se întoarcă la cabinetul medicului, doar câteva zile mai târziu, cu rezultatele testelor în mână. Cristina a descris ce s-a întâmplat când s-au întors la cabinetul medicului. Ea a vorbit despre răspunsul medicului în timp ce acesta se uita la rezultatele testelor: „În trei zile ne-am repezit în camera neurologului și i-am arătat rezultatele medicului nostru. A rămas fără cuvinte ... prima dată în viață a avut un pacient cu acest diagnostic. Prima dată în cariera sa de peste 20 de ani. ”
Un medic care era bine versat în tulburările genetice nu întâlnise niciodată un pacient cu boala CLN2 Batten. Cristina a spus că nu-și poate aminti tot conținutul acelei conversații cu dr. Benko, dar își amintește un lucru sigur. Adică medicul i-a sfătuit pe ea și pe Andrei să „facă amintiri”. Cât de rău te doare când auzi așa ceva? Auzind că a face amintiri este singurul lucru asupra căruia aveți control. La fel ca mulți părinți care primesc un tip similar de diagnostic pentru copiii lor, familia Berliba au fost plini de șoc și deznădejde. Răspunsul medicului în timp ce lucrurile se desfășurau a arătat o atitudine de compasiune grijulie. Ar face tot posibilul să facă tot ce putea. După cum mi-ar spune Cristina, „El ne-a promis că va face posibilul și imposibilul să aibă grijă de băiatul nostru”. De fapt, el i-ar ajuta pe Andrei și Cristina să găsească ceva care ar avea un impact major în bătălia fiului lor împotriva CLN2 Batten. Totuși, acest lucru nu va avea loc imediat, iar ei vor avea timp să ia în considerare cu ce se confruntau. Aceasta a fost noua lor realitate când au venit acasă și s-au uitat la Sashka lor în timp ce se juca. Cristina descrie care au fost gândurile și sentimentele ei la acea vreme, „Am venit acasă și îl priveam, Sashka sărea și alerga în jur, se juca cu fratele său mai mic, zâmbea și savura cartofii prăjiți preferați. Și nici nu mi-aș fi putut imagina că peste câteva luni, Sashka meu nu va mai putea să meargă, să stea, să vorbească și chiar să-și țină capul."
Cristina s-ar referi la ceea ce s-a întâmplat ca pe un coșmar și din care nu s-au putut trezi. Atunci și încă acum, ei nu pot să o facă să dispară. Timp de mulți ani, familiile cărora li s-a dat un diagnostic precum CLN2 Batten nu au avut deloc nicio speranță. Poate exista doar speranță, probabil, din cauza faptului că există cercetători care lucrează pentru o vindecare. Indiferent, familiile își vor da seama întotdeauna că trebuie să facă tot ce este posibil pentru a-și ajuta copiii să lupte. Părinții găsesc puterea de a continua, deoarece aceasta este singura alegere pe care o au. Aici s-ar regăsi Andrei și Cristina, dar vor fi vești bune aproape imediat. Momentul diagnosticelor a fost unul pozitiv. Aceasta a fost că FDA a aprobat recent o nouă terapie. Terapia a folosit o soluție numită Brineura pentru perfuzii pentru a înlocui enzima care lipsea lui Sashka. Copiii primesc perfuzii în creier printr-un port care este plasat chirurgical în capul lor. Sperăm că acest lucru va îmbunătăți calitatea vieții lui Sashka, oferindu-i în același timp o longevitate mai mare. Dr. Benko a sunat-o pe Cristina și a îndemnat-o să îl aducă pe Sashka în acest tratament. Ceea ce trebuie să pară un vârtej de evenimente a dus la o mare confuzie din partea Cristinei și știa că are nevoie de mai multe informații. Cu aceasta, spune ea la fel de mult: „Am fost atât de confuză, încât nu am înțeles despre ce vorbea el, cum poate o infuzie să intre în creier. Mi-am dat seama că trebuie să studiez mult mai multe despre această boală genetică. ”
Au fost trimiși la Spitalul de Copii din Orange County, deoarece acesta era singurul spital din California care făcea perfuziile cu Brineura în acel moment. Aceasta ar fi o mare distanță de Sacramento, dar era singura speranță a acestei familii. Andrei și Cristina s-au întâlnit cu medicul responsabil la CHOC și el ar fi trimis la spitalul UCSF Benioff din Oakland, California. Distanța dintre Oakland și Sacramento era mult mai mică. Acest lucru ar fi binevenit și mult apreciat de către familia Berliba. La UCSF Benioff, s-ar întâlni cu medicul care i-a explicat tot ce privește perfuziile și cum funcționează acestea. El ar include cât de des ar primi Sashka perfuziile și care ar fi riscurile. Operația de implantare a portului Sashka a fost programată pentru luna septembrie 2018. Cât de dificil ar fi părinții unui copil la fel de mic ca Sashka ... să-și imagineze fiul sau fiica lor mică trecând printr-o astfel de procedură? Vor fi multe lacrimi vărsate pentru ceea ce se întâmpla. Chiar și așa, au început infuziile cu Brineura. Pentru mine, acesta este un angajament greu din partea oricărei familii implicate și toate acestea au respectul meu. Perfuzia se administrează la fiecare două săptămâni și asta înseamnă de fiecare dată o altă călătorie la spital. Întreaga experiență de a începe trebuie să fie suprarealistă înainte de momentul în care lucrurile devin de rutină.
Diferit și încă frumos
Era esențial ca familia Berliba să-l testeze pe fratele mai mic al lui Sashka, Dan, pentru a se asigura că nu va fi afectat de boala Batten. Vestea foarte bună a fost că testul său a revenit arătând că nu are Batten. Totuși, în viitorul său, va fi testat pentru a vedea dacă este purtător al bolii Batten. Deocamdată totul este în regulă pentru fratele Dan! Nu după mult timp după diagnostic, Cristina va afla că familia lor aparține unei întregi comunități din întreaga lume. O comunitate pe care ea nici măcar nu o cunoscuse exista. Anterior, ea și Andrei nici măcar nu au considerat că o afecțiune genetică rară ar putea afecta fiul lor. Acum știau și vor afla despre sprijinul disponibil online și prin organizații precum Asociația de Cercetare și Asistență pentru Boli Batten (BDSRA). Grupurile care existau prin intermediul rețelelor de socializare ar deveni parte a sprijinului lor pe măsură ce Cristina comunica cu familiile care treceau prin același lucru. Ei au aflat că nu au fost singuri în această bătălie, deși, uneori, se simte încă o existență singură. Timpul a trecut pe măsură ce această poveste este scrisă și Sashka se luptat. Selupta așa cum te-ai aștepta de la un mic războinic, arătând un tip de rezistență pe care doar acești copii îl pot avea, dar este fost dificil. Întreaga luptă este dificilă atât pentru Sashka, cât și pentru părinții săi. Nu există dragoste ca dragostea unei mame și acest lucru a fost deosebit de greu pentru Cristina. Cu aceasta, ea vorbește despre dificultatea de la început și până în acest moment, „A fost greu, a fost atât de greu să vezi cum lupta, cum plângea ... dar acum, după doi ani de perfuzii, este mai greu de realizat că nu mai este capabil să lupte, că durerea este normală pentru el ... ”
Există întotdeauna provocări fiind părinte al unui copil cu nevoi speciale. În calitate de părinți pentru copii cu nevoi speciale, putem mărturisi acest fapt. Cu toate acestea, trebuie știut că părinții care au un copil cu o boală rară se vor confrunta cu unele provocări severe, care nu sunt cunoscute de mulți. Ceea ce era de așteptat pentru o viață împreună aici în Statele Unite a fost schimbat dramatic odată cu diagnosticul lui Batten. Cristina a descris cum sunt majoritatea zilelor ei și cum s-au schimbat acele zile din cauza lui Batten, ”Desigur, viața noastră s-a schimbat foarte mult. Programările medicale sunt obligatorii. Infuzii, terapii fizice și ocupaționale .... există vizite cu neurologi, reumatologi, dentisti, ortotici și pediatru. Ziua mea este ocupată și fiecare mamă a unui copil cu nevoi speciale știe despre asta. Există zeci de apeluri telefonice pentru medicamente, reînnoiri de prescripții, lupte pentru echipamente medicale etc. ” Rutina zilnică a lui Sashka îndepărtează timpul care ar fi petrecut socializând sau plecând în vacanță, dar merită atât de mult sacrificarea timpului. Luptă în fiecare zi și merită părinții care sunt acolo pentru a-l ajuta în lupta sa. Are asta și are dragostea părinților săi. Un tip de iubire profundă și nemuritoare. Uneori este totul copleșitor pentru Cristina, dar ea continuă să lupte. Andrei este stânca ei și un mare sprijin pentru familia sa. O mare parte din forța lor vine prin lupta împreună.
Aceștia sunt oameni dulci. Am călătorit la Denver la conferința familiei Batten în iulie 2019 pentru a petrece timp cu prietenii și cunoscuții din comunitatea Batten. Fiecare dintre aceste conferințe este un eveniment special, deși pot fi și copleșitoare. Atât de mulți tineri războinici, cu familiile lor, într-un singur loc. Am petrecut mult timp în hol în timp ce familiile veneau și plecau și nu voi uita niciodată să-i văd pe Andrei și Cristina venind cu Sashka. Deși nu am ajuns să-i cunosc atât de bine înainte de acel moment, ei s-au îndreptat imediat spre noi. Ne-au salutat călduros. Am putut petrece timp împreună și mai târziu ne-au invitat chiar să ni le alăturăm la o microberărie care se află într-un cartier din spatele hotelului. A fost o ocazie specială și care va oferi întotdeauna amintiri speciale. Toată conversația s-a ținut despre Sashka. De atâtea ori am scris despre intensitatea legăturii dintre copiii care luptă și oamenii care îi îngrijesc. Când cineva are nevoie de tine, vreau să spun că într-adevăr are nevoie de tine, pentru îngrijirea cea mai de bază și dincolo de asta ... și asta se amestecă cu durerea din cauza situației lor. Există un tip de iubire care se dezvoltă și este amestecat cu dureri în inimă. Aceasta este o iubire care doare. Nu există nicio modalitate prin care o persoană în această poziție să renunțe sau să cedeze, dar poate fi dificil atunci când iubești pe cineva atât de profund. Am putut vedea amestecul de emoții pe chipul Cristinei în timp ce vorbeam. Aceasta este o mică familie specială, cu siguranță și ceea ce experimentează poate aduce dificultăți, spre deosebire de multe altele. Este un privilegiu să-i cunoști și să știi, de asemenea, câte ceva despre povestea lor.
Marele lor vis american este încă în viață, dar călătoria pe care se desfășoară familia Berliba a oferit unele provocări reale. Viața este destul de diferită de ceea ce era de așteptat, dar mai sunt lucruri minunate de experimentat. Sashka îi învață pe tatăl său și pe mama sa despre un tip de dragoste care nu este ca nimeni altul. El își învață familia despre lucrurile care sunt importante în viață și cum să le ia în fiecare zi, câte unul. Cu fiecare zâmbet de la Sashka, părinții lui zâmbesc în schimb, pentru că atunci știu că are o zi bună. Fiecare zi în care știu că este liber de durere este „o binecuvântare” pentru ei. Sashka știe că este iubit prin atingerea celor care îl iubesc. „Știe că este în siguranță”. În timp ce Sashka își cuprindea odată fratele său mic Dan, Dan îl iubește acum pe Sashka și este cu siguranță foarte dulce de văzut. Oricum ar fi, ambii simt dragostea. Da, există mulți tati grozavi în comunitatea Batten și nu numai, dar sunt încă un credincios ferm că nu există dragoste ca dragostea unei mame. Nu există nimic asemănător cu atingerea unei mame. Este un lucru matern care le aparține doar lor. Prin atingerea Cristinei, Sashka „știe că este în siguranță” Prin vocea Cristinei, „știe că este iubit”. Cristina este acolo pentru Sashka și va fi mereu. Ea poate oferi lucrurile de care are nevoie, fiind mâinile (senzațiile), picioarele (mersul) și ochii (văzul) lui. Cristina este puternică pentru că Sashka are nevoie de ea. Ea spune: „Cum pot fi slabă? Continui să trăiesc doar pentru că are nevoie de mine ”. Știu că Andrei este un sprijin puternic pentru întreaga sa familie.
Trebuie să o spun din nou? Voi face indiferent dacă am sau nu nevoie. Aceștia sunt oameni speciali. Mă bucur că am ocazia să-i onorez în acest fel. Speranța și rugăciunea mea ar fi că vor putea continua să-și urmărească visele. Sunt atât de fericit că i-am întâlnit, chiar dacă este din cauza unui set dificil de circumstanțe. Folosesc cuvinte precum „special” și „uimitor” atunci când încerc să descriu copiii care luptă. Ei rămân atât de rezistenți, dând vieții tot ce pot prin forță combinată cu inocența copilului. Aceste familii sunt speciale, deoarece li s-a cerut să facă ceea ce majoritatea dintre noi nu vor ști niciodată nimic. Din acest motiv, mai mulți oameni trebuie să fie conștienți. Odată ce le dai o mică bucată din inimă acestor copii, aceștia urmează să te fascineze pentru tot restul vieții. Cel puțin așa mi s-a întâmplat. Cristina spune despre Sashka: „El este micul meu soare cu o inimă mare, mare! Îl iubesc mai mult decât mi-aș fi putut imagina vreodată! Voi lupta pentru el până la ultima mea suflare. Sashka este viața mea! ” Te cred Cristina. Ești o mamă specială, unul dintre cei doi părinți speciali. A fost atât de frumos să vă cunosc pe voi trei în Denver și sper să vă revăd pe toți cândva! Cu sinceritate,
~ Greg Lopez ~
Blogger și avocat
“That was the day I will never forget because the world stood still. My heart and soul was forever changed and so damaged, and Lydia had no idea what I had just learned. I couldn't face her for hours. I told my family and I watched my strong dad cry and my mother break down. Every day after was the same.”
Lydia’s mom and advocate
So similar are the stories of those who have learned that their child is battling Batten disease. This, even though many of the details of each story may be different. They all however, share in common the experience of caring for a child with a rare and fatal disease. Some families have had more than one child that has battled or who may be currently involved. The experience shared involves a type of heartache that is profound. The only thing that can overcome the heartache of the battle is a type of love that is like none other. Love that is undying and which helps a person to move forward. This in order to do whatever it takes for the sake of the one that battles. These are children that we are talking about, defenseless and in need of the attention that is poured out. The circumstances involved may be different but the stories are so similar in terms of the commitment. I was once told by the mother of a young Batten warrior that the journey that is Batten disease can be a lonely existence. I can only imagine that she was speaking the truth. Somewhere on the planet sits a mother with her child. It doesn’t matter where that place might be although it could be several places, all at one time. In fact, that place exists anywhere a young mom moves through the day with one goal in place. That is to help her child to experience the greatest amount of joy that is possible while battling a disease that neither of them has any control over.
Things like paying the bills and taking care of the basics is a struggle but it is one that has to be faced. This child after all, is more important than anything else in the mom’s existence. This child is the center of her world and her reason for waking each morning. Everything that is done comes from a love that is mixed with heartache. These, in combination with each other, provide a type of emotion that is not felt by many and it creates a bond that cannot be equaled. The daily tasks are many and each one is necessary for the welfare of the young warrior. The days are so long and sleep is often fleeting. Some are sympathetic to what is happening within the walls of the place of dwelling and still, there are those that turn a blind eye. Good as gold are friends and family that are willing to extend a hand of support. Not everyone will take the time to consider the special nature of these children. It often seems that they are sent to teach us things and to change us in ways that no one else can. This type of thinking may evade those that are the closest and in the middle of the battle. From a distance, they are more clearly seen. There is another scene that plays out in various places at any time. In a hospital, having lost track of the number of times they have been there, is a set of parents with their Batten warrior. So often, we are talking about a mom because dad had no choice but to return to work. Complications have set in with their child’s health yet again and they are things that have come along as a result of the battle with Batten.
Relentless is the disease as time continues but it is incapable of diminishing the love that exists. Whatever it takes on any given day. Everything that is done is done so out of love and a bond that is greater than any other. It is more than most any can know about. Why do these stories matter? You have to take the time to pay attention. As a parent to someone who has special needs, I find that the kids that battle a rare disease like Batten are the most amazing. They are so resilient along the way and they are that for as long as they are allowed to be so. What they do to the human heart is something that is more than words can often describe. It is a tragedy anytime a parent receives the news that their child has a fatal disease for which there is no cure. Many of the details of what will follow will create a type of love story that has made me take notice. There are many that I am aware of now but in the beginning, there was this one young mom in particular. She had told me that anyone would have done what she had. While many will do anything necessary for their child’s welfare and well-being, not all will be asked to do things that take real courage. It takes courage, when being a young single mom, you have to pick up and leave the home that you are familiar with. Not knowing what awaits you, you leave because you have no other choice. Your daughter’s needs come first and this causes you to take action. Being an ordinary person, without an immense amount of support, you just pick up and move to a place where help exists.
No Love Like It
I met Alicia Headrick in the same way that I have met other parents of kids that battle Batten. That being through social media. The resemblance between herself and her little girl, who is named Lydia, was striking. I have said a couple of things about the love that exists between a mother and her daughter in the past. Being a dad to three boys, I am simply making an observation or two as I state - There is no love like a mother’s love and, there is no bond like that which exists between a mother and her daughter. There seems to be something kind of dramatic to me about a young mom getting into a car with her tiny daughter and leaving home after receiving the worst news possible. Searching for any help that may be available. Finding it and petitioning those responsible to make sure that her daughter is included. Not knowing what her new surroundings will be like, nor what the future will hold. Just going because there is no other choice. I approached Alicia about the possibility of working with me to which she responded by showing interest. So much has taken place since that day and what I write here will be a snapshot of the entire story. Alicia had asked me if I was good at piecing information together after she agreed to work with me and I said that I was. As a result, she forwarded to me several emails that could be used to construct her story.
What I found as I read through them helped me to form an opinion about her that has stayed with me to this day. My feelings were only strengthened when I met Alicia and Lydia at the Batten conference in Nashville. This was that she was an intelligent and articulate young woman. As I looked at the emails, I found the details concerning a single mom on a search for answers. Frantic over what was taking place with her daughter, she reached out to the medical community, looking for someone that could help her daughter. At this point, little Lydia is one that has battled but in the beginning, there was so much that Alicia had yet to learn. With the following, she talked about all that she was just finding out, “I don’t understand why, when Batten parents reach out to me and tell their child’s story, it always starts out so similar to mine. How their child was so healthy and so active and happy when little. Even a few of the kids have a laugh like Lydia’s that’s so contagious. They were enjoying life and love and family and their child was and is the center of all this goodness. Then major symptoms start to show, and you are told your hopes and dreams will just remain hopes and dreams. There’s all these what-ifs and fears and nightmares, and any new possible sign or symptom of regression sends such a terrible feeling straight into your heart.” Having learned so much, she now understands more than one would want to know exists.
These days, there is greater awareness but there is much more that needs to be done. When a parent finally receives the diagnosis of Batten disease, it often comes after an exhaustive search for answers. Sometimes a person has had to deal with a number of different doctors to get answers and it takes a long time to get through the maze. Along the way, a child can be given a false diagnosis. Sometimes, there is more than one. Once the cause is determined, the news brings devastation. The parent finds out. The child that they have brought into this world has a disease for which there is no cure, and it is fatal. All of a sudden, a grieving process begins and that grief is for someone that is still with you. Soon, and even though the heartache continues, a sense of determination takes over. A love that is profound and a bond that cannot be broken will be revealed through action. This child needs you and you are determined to give your very best to help him or her battle. From a distance, what is revealed to those of us who look on, is a type of love story that is like none other. Honoring the child that battles, as well as, those who are by their side is the reason that I write. This is another opportunity to share a story of one that battles. A very special one at that, so let’s get started. Alicia Headrick had dreams and aspirations for her life as she was growing up and I am certain that being a mom was a big part of what she had dreamed of.
This would become a reality for Alicia as she gave birth to a baby of her very own. The big event would take place in the state of Tennessee and in the city of Chattanooga to be specific. Alicia’s baby would be named Lydia Rose. Baby Lydia would make her appearance into this world in the usual way, and without major complications. To this mom of a baby girl, it would be no ordinary event. Rather, it was one that would change her life forever. I am certain that she was not the only baby that was born in the city of Chattanooga on the day of August the 27th, 2011. She was however, to Alicia, the most beautiful. It would be difficult to argue that she was not. Lydia Rose had all of her fingers and toes and she was covered in brand new baby skin. She was a princess from the very first sight of her. Alicia was a mom! The bond that had begun to develop as Alicia carried her unborn daughter only intensified as Lydia was handed to her. Life’s circumstances can take us to places that we might not expect them to and as it was, Alicia would begin parenting as a single mom. Yes, there were concerns about what the future may hold but any that might exist would be overshadowed by the joy Alicia was feeling. This baby girl was beautiful and she was the object of her mamma’s affection.
There are not many things more treasured in a parent’s memories than those of their children as they are growing up. Most always, a child’s upbringing is filled with laughter and innocent fun as life’s lessons are learned. The purity of a child and their innocent ways is one of the reasons that we so enjoy having them around us. Watching all the adorable things that they do. The questions that they ask, the giggles, and innocent laughter are things that are treasured for all of time. These memories are built upon by the ones that are formed as a child grows into adulthood. All as our children go through the various stages of growth. We have all experienced the joy of having little people in our midst and having Lydia around was so enjoyed by her mom, extended family, and friends. She was loved by all who knew her and none more than her mom, Alicia. To say that she loved her daughter Lydia would be an understatement. The dreams that she held for her young daughter were without limit. There were challenges ahead for sure. Ones that any single mother may face. There was, however, also hope for a bright future together. Lydia would grow and achieve her early milestones as one would expect. Not only this but she was becoming more darling by the day. If you had to describe her in only one word that word would be “cute”. If you were to add to that a little bit, you might say that she was “total cuteness”. When she learned how to talk, the sweetest things came out of her little mouth. One example is how she would pronounce her colors. For Lilly, yellow wasn’t yellow. It was Lellow! As she continued to reach new milestones, her vocabulary increased.
Hope for the Future
My exposure to Alicia had shown me that she was an intelligent and articulate individual. She is someone that could meet the challenges that lay ahead and there is no reason that the dreams that she had for Lydia could not be realized. Whether raising Lydia as a single parent or one day married, Alicia could visualize Lydia achieving all the things that future may hold for her. There would be grammar school through high school and possibly, even college. Perhaps Lydia would be involved in sports, or Cheerleading. There might be high school dances and even senior prom night. What parent who loves their child wouldn’t be thinking ahead, at least just a little? As time would continue, however, events would take place that would be a cause for real concern with Lydia.This would begin to change everything for Alicia. So soon after the advent of Lydia's appearance into Alicia’s life, she began to notice things that concerned her. As early as one and a half years of age, Lydia started to give Alicia cause to be concerned. At as early as one and a half years of age, Alicia began to see things in her daughter that could be a problem. Little Lydia was having sleep issues. She was waking early and staying awake until very late on many occasions. Alicia said that Lydia would often wake up crying and she would be inconsolable. What could possibly be happening with a child when something like this is taking place?
Lydia was the center of her mother’s universe at this point and Alicia would, of course, be a keen observer of anything that was different about her daughter. So concerning would this kind of thing be for a young mother and the problem didn’t end with the sleep issues. She went on to say that it seemed liked Lydia’s whole body would stiffen if she was touched. This made Alicia wonder if her daughter was in pain. It’s so disheartening when trouble begins to strike a little person like Lydia. She was a darling little girl and the object of affection for so many people. What was it that was plaguing her? Alicia was also noticing things in relationship to Lydia’s speech. She could not pronounce several letters or speak in sentences with over three or four words back to back. There is a type of maternal instinct that just makes moms key observers of the circumstances surrounding their children. I am talking about a mother’s intuition. Alicia would know her own child as well as, or better than, anybody. She had some real concerns and would bring them up to the pediatrician. What she was told in response is typical. Alicia was told that this was all normal and that she should not worry about it. After all, Lydia was meeting her other milestones. Gradually her speech improved but this would not be the end of it. What would happen next would reveal that there was something taking place with little Lydia that was not normal. Alicia remembers that it was on May 22, 2015 that Lydia had her first grand mal seizure.
This would take place an hour after she was sent to daycare on the day care bus. Alicia would, of course, take Lydia to the hospital where she would be told to not be overly concerned. Alicia was told that one seizure does not mean that Lydia would have another. There are seizures, for example, that are associated with an increase in body temperature. These may only happen once, or on occasion, and they are called febrile seizures.This however, was not to be the case. Lydia would have her second grand mal seizure on June the 1st of 2015. What would it be like to experience such a thing? To watch helplessly as the seizure took its course? At this point, testing would be performed and Lydia would be given the early diagnosis of epilepsy.The drug Keppra was prescribed for her but it would prove to not be effective. Even with the maximum dosage, Lydia was having one grand mal per month. The problems would not be isolated to a monthly seizure but would include other issues that Alicia was noticing. As of August, Lydia had also developed uncontrolled movements and stuttering in her speech. At times, there was also sudden and complete muscle loss. This was all in addition to the grand mal seizures that continued through December of 2015. As if this all wasn’t bad enough, Lydia would begin to display abnormal movements with her little frame. She would also fall to the ground frequently. Alicia had no idea what was going on and neither did the Neurologists.
Alicia wondered, was this all a side effect to the medication or was she seeing Lydia having a new and different type of seizure? There had to be something more going on than simple epilepsy. You’re a mom and there is nothing more important than this life that has been entrusted to you. The desire to make things better is so strong and yet, Alicia had to feel frustrated with her inability to change Lydia’s situation. There was something going on in her daughter’s body that she did not yet know existed. Alicia would try to deal with what was in front of her. She would research the side effects of the medication that Lydia was currently taking and compared them to what she was seeing. At the time, Alicia felt that she may have the answer. Could this all have simply been the side effects of the medication? The procedure for handling seizure disorders in general is to add more and or different medications until the seizures are under control. There is not one type of medication that works for everybody. Perhaps, the seizures were part of a larger issue that had not been considered at this point. A medication named Topamax was prescribed for Lydia next. The Topamax was prescribed in capsule form and the doctor recommended that Lydia be given the medication by having it sprinkled over her food. Alicia suspected that this would be an issue and she explained the situation to the doctor. You see Lydia was having problems with things like swallowing and even speaking. In general, she was having problems with eating and to expect her to get the medication through this means was not to be expected.
In addition to these concerns was added the fact that the medication would not dissolve on food. As a result, Lydia was receiving next to none of the medication. Nothing was working to relieve her of these awful seizures and all of the other issues that Alicia was observing. According to Alicia, Lydia continued to have movements that were out of control and dangerous. She would have a body part jerking quickly every three to five minutes or she was dropping to the ground. Is there any way that we could possibly imagine what it was like for this young mother at that point in time? What about sweet Lydia? What was all of this like for her? What damage was taking place in her as a result of all the seizures. The totality of what all this was doing to Lydia was so disturbing to this bewildered mama. Alicia shared, “She was bruised, scraped, and cut up by now, but the hit her spirit took from the constant physical limitations ... her own little person minded misunderstandings of her condition and mistreatment she received by less than par local daycares is what I saw hurt her the most.” Most alarming was Lydia’s own misunderstanding as to what was happening to her. How damaging was all of this to her little spirit? Alicia continued as she explained what Lydia’s perception of what was happening to her was, “My happy child thought her seizures were people she cared about pushing her down, and she made it clear she felt this way, and that her feelings were hurt worse than the trauma her body was experiencing.” This would be heartbreaking to say the least!
Circumstances Beyond the Ordinary
I can only imagine the concern that Alicia had for her daughter at that point. This little person had become such an integral part of the family and the center of Alicia’s world. She had brought so much joy to all who knew her. Now, Lydia’s health had declined and things were out of control. No one had answers for what was going on. Alicia’s own anxiety was growing to the point that she reached out for additional help. The trauma that all of this was creating was almost more than one could bear. Alicia explained, “I pleaded for help, because Lydia was beginning to be covered in bruises and the daycare was not comfortable with what she was going through either. She was losing coordination, sleep, and the ability to even walk without dropping flat on the ground.” Again, as things continued, it just seemed that more was taking place with Lydia than could be explained with a simple diagnosis. Lydia would continue to have at least one grand mal seizure per month and had seemed to lose control of her little body. She started having potty accidents whereas she had been completely potty trained prior to the start of the seizures. Alicia and Lydia used public transportation for getting around over a two year period and having a child with these issues was making travel more difficult. This was besides the fact that you could just see the changes in Lydia. Whereas you once had a happy child with unlimited energy, Lydia was now more cautious and withdrawn.
Alicia described some of the changes in her little girl, “... though she used to walk up the bus steps and wave to the driver, and even sing her abc's on the bus, she was now at the point where she couldn't walk without holding my hand. She was too tired to sing, and was weary from falling down all the time.” It would make most any person’s heart ache to think about the impact that all of this was having on this perfectly sweet little person. Daily, the level of concern and anxiety over her daughter’s condition would impact Alicia’s own personal well-being. All during this time there continued to be trips to the doctor and the neurologist in a search for answers. It would soon be determined that what Lydia was experiencing was a combination of Myoclonic, Drop, and Absence seizures. Several different medications would be prescribed as the neurologist attempted to come up with a “cocktail” of prescriptions that would control the seizures. This, while a weary young mom hoped and prayed for some relief as her daughter’s situation grew to be more dire. Many times, as I have written these stories, I see a resolve to get the answers needed start to form. Initial contact is made and decisions are left with the treating physician. Sometimes, this initial contact will bring about a conclusion as to what is going on. However, that is not always the case. Oftentimes it will be the parent, or parents, “stepping up their game” and becoming more assertive in order to get results. Alicia had seen enough and she needed answers.
Obviously, there was more going on than just epilepsy and she had reached her limit. Alicia shared what she was feeling, as well as, the action that she took as time continued, ”I repeatedly and frantically called the neurologist until we were scheduled to go to Vanderbilt on October 22nd, 2015 for a better understanding of Lydia's sudden change in movements.” It was on that day that little Lydia was checked into Monroe’s Children’s Hospital for a two to three day video EEG. Lydia would stay in the hospital long enough for the Neurologists to determine what kind of seizure activity she was experiencing. This would also allow time needed to perform any other testing that would help them determine the root cause of all the seizures. In the course of trying to determine what was taking place with Lydia it was thought that she may have a disorder called Doose Syndrome. Doose Syndrome is also known as Myoclonic Astatic Epilepsy. This syndrome affects people in their early childhood and the disorder is characterized by difficult to control generalized seizures. The types of seizures that Lydia was experiencing, i.e., drop and absence seizures, are included in that category. Alicia described her feelings concerning that possibility, as well as, learning what was causing the abnormal movements seen in her daughter, “...my heart broke again that day when reading about Doose, and learning that her abnormal movements were due to myoclonic, drop, and absence seizures that had begun to be noticeable after her 2nd grand mal in June.”
A high percentage of individual children with Doose Syndrome will eventually become seizure free but there are still challenges along the way. The earlier that the seizures are brought under control the better the outcome will be. Failure to find a way to control the seizures can lead to impairment of learning and development. This may lead to mild to severe developmental delay. Many believe there to be a correlation between Doose Syndrome and the development of ADD or ADHD. For these reasons, there would be challenges ahead for this mom and daughter but they were ones that could be overcome. These concerns would weigh heavily on Alicia as she studied the effects of Doose. This syndrome, however, would eventually be ruled out much to Alicia’s relief, however the results of the EEG were revealing. Lydia's test showed seizure activity all over her brain. It even included nocturnal seizure activity. No wonder Lydia had problems with her sleep patterns. Alicia would describe it in such a way as to say that “her daughter’s brain was like a storm.” The drug Depakote was added and other medication adjustments were made. This helped for almost two months. The seizures were under control and the abnormal movements had stopped. This was a relief however, Alicia was concerned about the possible side effects of all the medications that Lydia was on at this point. This although she had to have been satisfied by the improvements she was seeing. The very sad part was that these improvements were short lived.
Two weeks before Christmas, the seizures would return. This time however, they were twice as bad as they were before. This is what Alicia had to say about the return of the seizures, “…she suffered another grand mal, and I watched all four seizure types return. My little girl was back on the floor after getting knocked down again by another drop seizure.” Whatever this monster was, it was relentless. Can you imagine being in the midst of the holiday season and having this type of thing happening to the princess of the family? A time that is normally reserved for being together and winding down from the events of the year was only bringing pure anxiety to Alicia. On top of everything that was happening with little Lydia, the battle with the insurance company had to be dealt with. Moving forward had been made difficult by the insurance company’s stance on further testing. Alicia said that it was declined by the insurance company for, quote, “lack of importance”. The only option that was made available was to add another medication, one that is named Onfi. Again, Alicia not only had the concern for what the seizures were doing to her daughter’s health. She was also concerned about the effects that the cocktail of pharmaceuticals was having on her daughter’s little thirty-seven pound body. This was not an acceptable situation. More needed to be done and Alicia would not stand still and do nothing. She remained persistent as an answer had to be found. She was frantic over what was taking place with Lydia and agitated over the fact that more was not being done.
Road to the Unthinkable
More testing needed to be performed and Alicia was determined to make sure that happened. Doose Syndrome had been ruled out but again, there had to be something more than simple epilepsy involved. More phone calls were made and eventually, more testing would be agreed upon. This time, genetic testing would be pursued and Lydia would have bloodwork performed on her to support this. It was hoped that a mutation in one of Lydia’s genes could be found that would reveal the cause of the seizures. Alicia would wait to receive word concerning the results of the testing but they would never come. Instead, she would receive a letter from the insurance company stating that payment for the testing had been declined. The letter used words like “experimental” and it included phrases such as “not helpful to assist in her treatment”. Wasn’t Alicia going through enough at that point? To have that come from the insurance company at that time seems so cold and indifferent. Alicia said that she was floored by the wording in the letter. How could she not be? More phone calls were made and it was determined that they would return to Nashville to have genetic testing done that the hospital’s program would pay for. The Gene-Rx test was performed, and for this they would have to wait three months to receive the results. Just as one would expect, the time in waiting would seemingly take forever. Alicia’s mama's heart continued to break for this little girl that was the center of her attention. The entire situation was crushing to her.
While waiting for the results, Lydia was regressing. She began to wear a helmet for her safety and she had to wear pull-ups due to accidents. Alicia kept Lydia close by her side for fear of her getting hurt while having a seizure. Her speech was slurred and she was stuttering. She no longer sang songs and was barely able to use a spoon to feed herself. Lydia was Alicia’s baby girl, her reason, and the purpose for waking each day. The months that it was taking to get a diagnosis had to have been so difficult. To witness the regression was more than what most any person her age would normally encounter. Alicia would spend many nights awake due to Lydia’s broken sleeping patterns. She would observe her daughter, watching her body shake and her eyes flutter. Her words concerning those occurrences are so moving to me as I try to visualize those moments in the hours of the night. Her and Lydia together. She commented on little Lydia as she would awaken, “In the mornings, her body was shaky and unstable, but she continued smiling and trying to communicate, and I kept up hope that the test would give us answers and she would eventually be okay. We went to meetings to develop an IEP, for which she did qualify for, and we tried to adjust to all the changes happening all at once, it seemed.” It’s so heartbreaking to know what the outcome would be once the news was received. However, what this mom would do out of a love that is undying would so impress me. I have been doing these stories for a few years now and I have been moved by each individual one.
Each story conveys the feelings that are experienced by the families as the diagnosis is found out. Almost all of them express what is the depth of despondency, grief, and sometimes rage that is felt by the parents and family. When you love someone as much as Lydia was loved, whatever takes place in terms of a response, must be understood. Alicia’s days, and also her nights, revolved around this little person who was so adored. Hope for an answer that would bring a resolution for what was seen in Lydia would fade. This would all happen on April the 16th of 2016. The hospital at Vanderbilt would call Alicia and explain that she would need to contact the neurologists in order to receive the test results. Was this because they did not want to assume the responsibility of explaining Lydia’s plight to her mother? A mom that would be consumed with grief? Was it that they did not have the time to do an adequate job of explaining things? Whatever the case may have been, Alicia persisted and would be given the answer right then. She would learn that it was both copies of the cln2 gene that were mutated. This meant that the TPP1 enzyme was not being produced. Alicia would take the information that was given to her and would do the research. In her own words, is what she would discover as some of the words leaped from the screen, “I researched and found Batten Disease, CLN2-Late Infantile. I read the words NO CURE, NOT ENOUGH FUNDING FOR RESEARCH, CHILDHOOD DEMENTIA and EARLY DEATH.”
All of a sudden, everything for Alicia just stopped on that day. There had been hope that the testing would bring a diagnosis for a condition that could be treated. That hope was now gone. This sweet and innocent child had a disease that had no cure and it was fatal. Everyone was crushed by this news. Her mom and dad, and all others who would soon learn of Lydia’s condition. Everything that made Alicia who she is as a person was changed forever. Along with her daughter, she had begun a journey down a course that is traveled by very few. One that, up until then, she was unaware of. Some might question the depth of despondency that was felt and the raw emotions exhibited at this time. Most all, however, will understand! She expresses what she did and what she was feeling with the following, “I quit my job. I was cracking and so broken. I isolated as much as possible. I felt forsaken by God. I cursed him while standing in my kitchen many days with my fists raised to him.” I think that God understands the anger, although he is also there to bring comfort! This story doesn’t end here. No not even close. Like the other stories, the parent is overwhelmed with the news that brings devastation and hopelessness. Things then change although the feelings of brokenness do not go away. It is just that added to that comes feelings of resolve towards helping their child battle the monster that has taken control. Alicia would begin to take immediate action. All the while, a bond that had already been stronger than most was becoming one that is like none other.
A love that is undying would be on full display as those who would look on took notice. So sweet are the memories that would be formed as those of us who would follow Lydia’s journey see them from a distance. They would, of course, be mixed with challenges that most know nothing about. It was time to take action because of love and Alicia would do just that. Most of us, as parents, would do whatever it takes for the well-being of our children. A very small percentage of us will be asked to do that which is out of the ordinary. Alicia would get right down to business, getting whatever was needed for Lydia. Taken from an email, Alicia stated what was involved at the very beginning, “Even with such a grim diagnosis we have much to do. She's being referred to have leg braces fitted, Speech, PT, OT therapy, and vision testing. She's already passed her hearing test. I requested a geneticist, and am waiting for them to fit us in.” Alicia got up and would do whatever was needed. She continued to care for Lydia after receiving the diagnoses even as the symptoms continued. The disease would bring to Lydia and her mom constant challenges but there was much more to come as their story continued to be written. Lydia would continue to face daily struggles because of Batten. She would rebound in the way that you would expect a little warrior to but the effects of Batten would be very traumatic. Lydia would go through spells of crying and yelling, sometimes at a level that was deafening and with her hands clenched.
The Will to Fight
She would go through cycles. Three or four good days and then bad days that lasted about the same amount of time. Emotions would run from high to low for both Alicia and her little girl as Lydia would sometimes be inconsolable. Even so, Lydia continued to laugh and display that smile that was just so darling. Alicia described what she was seeing in her daughter near the beginning of the battle and would talk about how it would help them to endure, “Lydia's stubbornness and free spirited nature are beautiful qualities to possess, and most importantly it'll help her to continue to fight. it'll help me continue to fight with and for her.” And fight, they would. They would fight together! It is unimaginable to think about what Lydia was experiencing on the difficult days of the battle. The disappointment of this young mom over what had happened is difficult to overlook. She had to have felt that their entire lives had been ruined by Batten disease. Her early dreams of what Lydia might have accomplished in life had been undermined. Achieving the things that she had dreamed of for her daughter would, in all likelihood, never come about. With the following, Alicia talks about what she was feeling at the time and why she would fight through the feelings, “I grieved her losses before they even happened. I grieved the loss of her before she was even gone. I had no idea what my purpose was in life other than to be a mother, Lydia's mom, and now I had no reason to live if she wasn't with me. Still, she needed me and I had to pull myself out of death's grip, to keep fighting for her until the end.”
Out of the most tragic of circumstances will often come the sweetest of details. A love that is like none will be on display for all of us to see. That is if you are willing to pay attention and take notice. Again, what is there that most people would not do for an innocent child like Lydia? And still, some parents will be asked to give more than is required by the majority of us. I’ve heard it said, “You never know how strong you are until being strong is the only choice that you have.” This is a quote fits so well the journey that Alicia would take with her daughter Lydia. Doing the best that she possibly could was about to involve leaving everything that was familiar to her. Alicia had to do whatever was needed to help this innocent life that had been entrusted to her care. Finding something that would help did not come through the recommendation of a physician but rather through a search of the internet. In her search for help with her daughter, Alicia would find out about an experimental drug trial while on the website named clinicaltrials.gov. She found a trial that involved something called Enzyme Replacement Therapy. Upon reading about it, Alicia felt that it looked to be their “last hope” for helping Lydia. All throughout this time, Lydia was continuing in her decline. Of course, Alicia would apply for the program. She would not only find out about the clinical trial but she would also learn of an organization named the Batten Disease Support and Research Association (BDSRA).
Alicia would learn that both herself and Lydia were part of a community that previously, she knew nothing about. It would be in July of 2016 that Alicia and Lydia would attend their first Batten disease family conference, put on annually by BDSRA. While at the conference, Alicia would have the opportunity to meet many of the families that had the same battle on their hands. So many were the innocent faces that had been afflicted with Batten disease. A person’s first time at these conferences can be overwhelming, however, Alicia did also have an opportunity to meet with the representatives from BioMarin. This is the name of the company that ran the clinical trial that Alicia was hoping to have Lydia placed in. The time at the conference passed in a blur and life continued on. A week after the trip to the conference Lydia had lost her ability to walk. She hadn’t eaten for a week and wasn’t moving around. The concern over Lydia’s decline became more severe with each passing day. This would lead Alicia to write an impassioned email to the representatives at BioMarin. The email was a plea for help. It seemed at the time that she did not have hope of Lydia being accepted for the next trial that was coming up. Among other things in her plea for help, she talked about Lydia and the other children at the conference.
Here is some of what was included in her email, “ I looked into these beautiful children's eyes at the conference in St. Louis and they are the most beautiful children I've ever met. Even the ones who have declined so much are so full of life and smiles. That's my Lydia, too. She was an energizer bunny. Always running, always smiling, and always socializing. She is slowly fading from me. Her adventurous, daring, and free spirit is barely noticeable these days. She's taken to sitting around when she used to run from the time her feet touched the floor in the morning. To think I used to complain about how tiring it was chasing after her. Now I don't have to chase her, and I'm even more tired. I am mentally and physically exhausted from watching her suffer.” That was just a small portion of what I read. This impassioned mom said that she felt out of her mind as she was writing and had written to BioMarin out of anger. In response she received an opportunity to conference over the phone with a couple of the reps from the company. Alicia would find that the response that she received was one of understanding. She would make it clear to me that the response was one that was both compassionate and sweet. How very wonderful that must have been? A week before Lydia’s 5th Birthday, Alicia received a call stating that the extended trial was open to five children who had CLN2 Batten disease. BioMarin requested that Alicia bring Lydia up to Ohio so that she could be seen by staff members.
Soon after, on August the 29th, they were in Ohio getting an evaluation performed to see if Lydia qualified for the trial. Alicia would find out that day that Lydia did qualify. So it was a week later that a shunt would be surgically implanted in Lydia’s head. Two weeks later, in September of 2016, Lydia received what would be the first of many infusions. One is given every two weeks. During these infusions, Lydia would receive a solution through the shunt that would replace the enzyme that her body was missing. The commitment for each of the families in this trial is a heavy one but one that is gladly accepted. While not a cure for CLN2 Batten, it does offer a greater quality of life for the children that take part in it. All of a sudden, things had changed for Alicia and Lydia. Alicia knew what they were facing and there was hope and help for Lydia. Most often, knowing is better than trying to cope with the unknown. This mom could now catch her breath for just a little bit and further evaluate the situation that she now had knowledge about. There would be much to come but for now, Alicia felt that to a certain degree, they had been fortunate. Here is a little of what she had to say concerning that time, “Looking back now, and after hearing other rare disease stories from amazing parents, I learned that we had/have more to be thankful for that I didn't even notice!” Alicia was thankful that Lydia’s diagnoses came relatively soon compared to others. Her princess had been granted access to a clinical trial that is available only to kids that battle CLN2 Batten.
A Bond Like No Other
Along the way Alicia would meet some very wonderful people but would also continue to face some real struggles. It is always a very good thing when a child that battles CLN2 receives Enzyme Replacement. The more time that is spent getting a diagnosis and gaining entrance into the program ... the more time the disease has to progress. Alicia’s assertiveness and her desperation would have a profound and positive impact on Lydia’s health. Lydia had lost some valuable time as her mother searched for answers, but the answer would arrive more quickly than in countless other rare disease cases. This would grant Alicia and Lydia so many more quality days together. A bond that was already very strong would become one that is like none other. A sacrificial type of love would ensue and it would be on full display for those of us that would take notice. It has been some time now since Lydia first began her battle and so much has happened. The following is some of what Alicia had to say right after Lydia began her treatments, “Batten disease is an absolute living nightmare. It is hell, and it doesn't discriminate against anyone from anywhere. The only good thing about Batten is the people we have met in the same situation and have become a long distance family to. This includes the wonderful therapists who actually have passion for their career, and the compassionate Batten's disease specialist and her proactive staff in Ohio. The uplifting support of the Batten Disease Support and Research Association, also in Ohio. They have made their presence known from the very beginning, and it is such a light in our darkness.”
Alicia had also referred to some of the people that they have gone on to meet as lifelines. That is in fact, literally true and all of these people would continue their assistance for sometime to come! All of them would become vital to Alicia as Lydia continued on enzyme replacement. This would require the two of them to relocate from their home in Tennessee to the state of Ohio. Over time, and in writing many stories about families that battle Batten alongside their children …. I have seen that there are not many things that parents will not do for the well-being of their warriors. That includes picking up and leaving the home that they are familiar with. They will cross oceans and move to a different country if there is no other option available. Whatever it takes, there is nothing more important than this little life (their child) that they have been entrusted with. While Alicia would not have to cross an ocean in order to get help for Lydia, there would be many difficulties along the way. Think about it. A single mom with limited means, needing a place for shelter and resources to sustain herself and Lydia. She would move to a place that she was not familiar with. Finding an affordable dwelling place in a safe neighborhood would be a challenge. Maintaining a vehicle that is safe to travel in to all of the appointments and to Lydia’s infusions. Car repairs can be so expensive, let alone basic maintenance cost. At a time when most young women would be shaping their careers or finding true love, Alicia had other things to be concerned with. Her priorities surrounded the health and welfare of her daughter.
While Alicia would say that anybody would have done what she had, I can’t help but to be completely impressed by her actions. Separated by the miles from family and in large part alone with her daughter. Yes, they would make friends along the way. There would be all of those people that would become lifelines but most of the hard work would have to be done by Alicia. This mom would do anything to help improve her daughter’s quality of life. Anything to relieve her of the symptoms and progression of the disease. Being a single mom is difficult enough in any day and age. To try to live on your own and maintain a home environment for your child while providing for their needs is a most difficult thing all by itself. What if on top of that, your child has a rare disease? What if the only way to get that child the treatment that they need requires you to pick up and move away from your family. You have to be driven by love and a sense of urgency. I know that I have a habit of repeating myself to an excessive degree. Here I go again. There is no love like a mother’s love and there is no love like that which exists between a mother and her daughter.
Alicia and Lydia would continue on a journey together and it would take them from the home that they were familiar with. The life that they would now lead would be so unlike what Alicia had expected. Once expecting to see all that she had hoped for Lydia, her circumstances were now unlike what most would experience. She was the mother of a child that had a rare disease and that would bring with it a series of rare circumstances. Enzyme Replacement Therapy would not take place easily for Lydia and as a result, it would also be extremely taxing on Alicia. What was meant to provide an increase in the quality of life for Lydia would also bring challenges to this warrior princess. It has now been a little over four years since Lydia started ERT and much has happened. Alicia described to me the setbacks that were associated with Lydia’s treatments and also how it has affected her as a person. Traumatic is a word that comes to mind and the trauma would affect both mom and daughter. The following quote is purposely included as I begin the remainder of this story. Here is what Alicia stated, “... there are times when I stood in front of the washing machine to watch and hear the water fill up, but my waterfall meditations were short lived because, I believe, the flashbacks are opportunistic. If I tried to escape they would find me, and I'd have to check on her by texting her teacher.” The type of love that we have discussed previously was and still is present in great measure when talking about this mother and daughter. A love that is undying.
There would be special times spent together for sure, however they would be mixed with struggles beyond compare. I cannot get out of the recesses of my mind, the pictures of these two people in their dwelling place. A mom alone with her daughter, a daughter surrounded by the abundance of stuffed Minnie Mouse figurines. Those given to her by people who love and care about this little person. Everything that is done by this young mom is done in support of her only child. Even in caring for herself, she is doing so in order to make it to the next day. This again, in order to care for her daughter. I don’t mean to be overly dramatic. I only want to paint a picture using words. Every two weeks, Alicia and Lydia would return to the hospital for the next treatment. Of course, in between that time would be a mixture of doctor appointments and meetings with those who were essential to Lydia’s cause. As I have stated, the treatments for Lydia would not be easy on her. In fact, they created anxiety within her. Alicia would tell me that poor Lydia would begin to cry as soon as she recognized the hospital. Lydia’s anxiety would become Alicia’s anxiety as well. A mother that so loves her daughter. Even times when there were no needles involved, like check-ups, Lydia would become hysterical. Lydia’s high pitched crying has now been suppressed by her lack of strength but they are still a part of the flashbacks that Alicia experiences. In addition to the sight of needles, a big portion of Lydia’s anxiety would come from the nausea that would take place as a result of the infusions.
The Struggle for Lydia
Lydia would be prescribed one sedative or another to help with the anxiety. Each trip home from the hospital was difficult because Lydia would be prone to losing the contents of her stomach (I don’t know of a better way to state it). How difficult would that be to drive the distance with that going on in the back seat? How do you drive and tend to your daughter at the same time? It was the most difficult at the beginning. Alicia would describe the first couple of years in detail. Here is some of what she shared, “For a couple years straight she would get so sick during treatment. She was very nauseated, and suffered from headaches and sensitivity to light. She also ran high fevers that could last from 2 to 4 hours, even after receiving meds. She would sometimes have leg tremors, and would often need rest until the next day.” Lydia would become flush near the end of each infusion and she would vomit each time. This would happen multiple times with each treatment. The feelings of helplessness for Alicia had to be present at times but the will to move forward was stronger. Alicia would eventually purchase a special head restraint to keep Lydia from experiencing aspiration during the trip home. She talked about the sadness over the effect that this was having on Lydia, “I sometimes called my dad crying on the way home. I was so sad for her, and felt awful that I couldn't sit with her and drive at the same time. We had tried several meds for her adverse reaction, but to no avail.” The doctors would finally come up with an anti-nausea medication that was delivered in a different manner to Lydia and this would help tremendously. The solution to the problem would not arrive right away though.
As we first alluded to, Lydia would begin treatment later for CLN2 than would be desirable. This allowed for the disease to progress before a diagnosis was determined. Some of the difficulty she has experienced is related to this fact. She just wasn’t as strong physically as one that receives a quick diagnosis and a faster start with treatment. This, however, has never kept her from being a beautiful warrior princess and one that is able to melt a person’s heart with a single glance. She has always had that awe-factor going for her little self! Lydia doesn’t get nearly as sick as she once did but she also does not bounce back from the treatments as quickly. Whereas she used to attend school the next day, she now needs more rest after the treatments. Of course, Covid-19 has affected Lydia’s ability to attend school this year, just like with most others. She still sometimes has a fever after the treatments and needs rest and recovery afterwards. She has to wait for a while to eat as well. Lydia began treatments at five years of age and she has been a real warrior. She is now nine years old and as one might expect, her overall health has declined. This has, no doubt, been very difficult on Alicia but she has been a warrior of a mom as well. However it may be that Alicia views things, it has to be felt by all who know her that she has been one strong person. Really, she has had no other choice but to be that. With this, Alicia shares a little more about the journey, “I'm thankful we had a piece of hope, an opportunity, even if it’s temporary. I'm sad it has been such a traumatic journey for her. I will always hope for a cure.” As will we Alicia!
There have been other health issues along the way for Lydia. The type that you might expect for a child that battles Batten disease. As well, there have been some difficult decisions. One was associated with the right timing for when to have a feeding tube inserted. Having it inplaced surgically turned out to be a tremendous help in Lydia’s care. Overall, she has been one strong little girl and with as difficult as things have been, she has always bounced back to the point that she is able to. As September of this year rolled around, Lydia would achieve an important milestone for kids on enzyme replacement. That happened as she reached 100 infusions. This has afforded her and her mom many days together. There will always be a big measure of respect from me for those who have suffered loss and have come out on the other side of things. The rest of life doesn’t stand still for Batten disease and it hasn’t for Alicia. As if she hasn’t been through enough with Lydia. She, along with her family, would suffer the loss of a cousin and her own brother. That in itself, has brought so much heartache but she has pressed on with life. She has done so because Lydia’s needs come before anything else. There have been so many sweet exchanges between these two as they have battled Batten together. A mother and her young daughter, alone much of the time but not unknown about. There are so many of us who have seen the sweet details either up close or from a distance. And yet, there have been many hardships.
In relationship to those sweet details, I knew that they had taken place but I wanted to ask Alicia about them. I think that the two of them have been through so much that it is often difficult to reflect on the intimate exchanges that have taken place. Alicia said as much as she responded, “…. I want to tell you all about sweet moments and fun we've had, but Greg, we've just tried to survive moment by moment.” Think about the types of activities that a young mom and daughter would be involved with. Soccer games or dance practice. Time spent at the park, in the sand or at the mall together. Batten however, has robbed them of most things. Alicia shared that as the symptoms of the disease have progressed, they have kept them home bound most of the time. Alicia is a realist and she knows that this battle will one day be over. Holding Lydia in her arms brings her comfort and a measure of peace but this journey won’t last forever. Just as I had thought, there have been many special moments spent together. Here is more of what Alicia shared with me, “She and I have had many, but never enough, snuggles and laughs. That's how we've coped. Those are sweet times always, but they're fading from her ability now.” Alicia struggles with this too and who could not understand that? The journey that is Batten disease is a most difficult one and making memories that will last can help carry a person through to another day. This experience will always be a part of who Alicia is as a person.
Lydia is the center of Alicia’s world. She said as much in this quote that was taken from Lydia's Facebook page, “She's the sun, the center of my universe, and as long as she still shines I'll know where I belong. Right next to her.” When I talk about a type of love that is profound and undying ... does Alicia and Lydia’s story not exemplify what I have been talking about? In that same post, Alicia shares some of the sentiment that has come out of the turmoil that the two of them have faced together, “I remember discovering how well big sunglasses hide tears. I remember her pain. I miss every word she's lost. I miss her voice. Yes, she's worth it. I'd give up everything just to have her pieces put back together. I hope she feels my love, and I hope it's enough.” Alicia, she feels it and she has experienced it through your actions. And yes, she has been so worth it! Just as one would expect, it was love at first sight for Alicia as she gazed upon her newborn daughter. She was a gift that was without, and beyond, price. The love has gone both ways. It could be seen in Lydia’s eyes even when she could no longer say it with words. This little girl loves her mommy. Alicia has been so brave and a hero to her daughter. She had no choice in this but Alicia has remained willingly because of her love for Lydia. The emotions that run through Alicia are so complex. Here, she explains a little more, “She makes my heart shatter daily, but she's also the reason it's still beating. I would never suffer so much for anyone else. She's my withering Rose, and I'm her protective glass case surrounding her. I only want to nurture her, save her, and watch her grow. But, unfortunately, the curse is within us, and her petals still fall.”
Loving Lydia - Life in the Now
Alicia continues, and keeps things real as she does so, “We are two peas in a pod, she and I. Life has battered us, but we're here. Sometimes I'm not sure why, how, or for what reason. Sometimes smiling is too much, but we are here, for now.” Along the way, there have been some sweet moments that will forever stay with Alicia. Many include the friendships that have been made. Many in the Batten community are like family and time spent at Batten conferences together brings with it memories that will never be forgotten. It was at these conferences that this mom and daughter experienced many firsts. Memorable are the times that the other parents would look upon Lydia with love. They had warm smiles on their faces and had tears in their eyes. They had experienced things very similar and these parents knew what the two of them were facing together. Alicia shared one thing in particular that will always stay with her and that is when a Batten daddy asked if Lydia could dance with him. Alicia speaks about it here in her own words, “A bereaved Batten dad asking me for a chance to dance with Lydia at the Father/Daughter dance. My heart felt complete joy to see such a sight. Lydia was bashful, but allowed him to carry her away from me for just one song. It's a moment I will always remember. Some may have prom to look forward to, but I had the privilege to see Lydia being held within the caring arms of a dad, and even more special because he's a Batten dad.” Having been to two conferences myself, I can testify to the fact that they are very special events.
While I have focused on the relationship between Alicia and Lydia as I write, it needs to be said that they are both loved by many, both friends and family. Loved by her parents, Alicia is especially close to her father who has tried to help as much as is possible. In the beginning, he drove from Tennessee to Ohio for Lydia’s first port placement. While there, he carried Lydia to the room she would be in as she was being readied for surgery. This year, Alicia would have to carry her daughter by herself as she underwent surgery to receive a new port for continuing enzyme replacement. And still, that time with her dad will always be remembered. There are so many other experiences that will be a part of who Alicia Headrick is as a person as she presses on in life. Ally, as she is called by her friends, is someone who always will have left an impression on me and she is someone that I have a great deal of respect for. Some who have fought in battle may take exception to using terms of war as people try to relate them to the battle that is Batten disease. After all, there are not many things more terrifying than serving on the battlefield. I do believe that there are many veterans who will not mind the comparison once they know what these families will go through as they battle alongside their children. Especially, this mom who has been through so much. So many return from combat having been changed by what was experienced. PTSD can impact a person’s life negatively for all time. However, many will grow out of what was faced and will live a life of purpose as they conquer and overcome the challenges that were endured.
War can be so chaotic and a person can only react using the training that they might receive. A lot of the time, a person will experience things that their training doesn’t cover. There is no training for what Ally has been through with darling Lydia! She gives us some added detail as to what life has been like for her with this, “I can't decompress if I'm on caregiving duty 24/7 for 6 years. I've been stuck in panic mode this entire time, and I have no doubt she has felt my stress. Survival mode isn’t sweet or pretty, but Lydia puts up with me.” I know, without a doubt that Lydia has felt and knows of the love that her mom has for her. She has been the recipient of a type of love that is profound and undying. Although the sweet details are sometimes missed in the middle of the chaos, they are there. That is, even if they are only seen by those of us that look on from a distance. They are there! Those details have been there throughout this journey which continues. Ally has struggled along the way but she still stands tall, at least in my estimation of things. Again, there have been so many friends and people that have come alongside and their contributions have been so important. Alicia, again, gives us some added insight, “I've begged for help, but have instead received the wisdom of those who are my friends and also have received that which resulted in physical support in the form of professionals. My mental health case manager has been here through this seemingly hopeless situation, and hasn't given up on me yet. She's a tough lady.” What if one day, Alicia is the one that is counseling others? That taking place because she has come through this experience?
Like every protective mother might, Ally sometimes wishes that she was the one that was experiencing the symptoms of Batten instead of her young daughter. She has done everything possible to help Lydia along the way. So much has been given up for the cause that is her daughter’s life but there are no regrets over the actions that she has taken. As Alicia said concerning her little warrior, “She is everything that's good, and was born into a life, filled with bad.” Lydia is just a precious little girl who has fought so hard and her life has impacted the lives of countless people. She has what is the attractive features of all of the ladies in the Headrick family and her little smile lights up any room that she is in. Her laughter will always be a part of the memories that have been formed. She is the model of the resilient little warrior that we so often talk about. Lydia has come through so much, always bouncing back to the degree that this dreaded disease will allow her to. At her very core, she is a beautiful little girl and one whose journey we have followed for sometime now. I have a son that I love who has special needs. There are certain things that I can understand but as things relate to children with rare and fatal diseases, I can only do my best to understand. I have something that crossed my mind. Something that people may disagree with or which may even cause them to become angry. It is thinking along these lines …. So if these kids have a profound impact on the lives of others. If they change people and their impact lasts long after the time that they leave. Can it be felt that in that way, they stay with us forever? Is that a fair question? It’s a bond that can never be broken, nor would you want it to be.
This is a real story and I can’t help but to keep things real as Lydia has been on her journey for some time now. In the back of every parent’s mind, when they have a rare child, are concerns about what the future may hold. This is another reason why this writer’s level of respect for all of you as parents, is off the chart. There are many stories like this one, even if many of the details are different. One of those is the story of a grandmum in the United Kingdom that was trained in palliative care nursing. She had a grandson that was born to a lovely daughter of hers and the connection between this infant grandson and nurse was instantaneous and so very strong. As it turned out, her grandson had the same variant of Batten disease that Lydia has, only it was at a time in which enzyme replacement was not yet available. How amazing was it that she was trained in the exact type of nursing that this warrior would need as he battled CLN2 Batten disease. The grandmum would leave her career to care for her grandson and she would become his advocate and full-time caregiver. The story is one of the most beautiful that I have ever heard of. The two of them would almost literally, and in a real sense, cling to one another for as long as he battled. That is until this charming little man left for heaven. With a void that could not be filled, this grandmum returned to caring for others as she picked back up her career in nursing. I have always wondered. What was it like to be on the receiving end of her care after she returned to practicing medicine? What was it like for her on that first day back?
So many questions. What will Lydia’s impact be on the life of her mom? What will there be that Alicia can’t handle after going through these challenging times? What would she not be able to accomplish? This, given the measure of strength she has shown in the middle of things experienced? What is there that would be too hard for her? Who are the people whose lives will be impacted by a mom who loved her daughter so fiercely? There is so much potential for Alicia's life as she continues and yes, Lydia is so worth this struggle. It is my hope and prayer that the number of days that Alicia and Lydia experience together are a great many. We so need a cure! Thanks for taking the time to read their story. Sincerely,
Blogger and Advocate
“Looking at Nicole that night when we got home, sitting in her room. Surrounded by her little princess dolls, with fairy lights on and Disney bedtime music softly playing in the background, I cried like I had never cried before. It was a sickening feeling to look at our little sweetheart and to know that she had no idea what she had and how her life was to be. It was absolutely heartbreaking.”
Batten Mam and Advocate
It can happen when I am reading something concerning a child that battles Batten disease, or it can come from a passing thought when I am driving. It might also happen when I am watching a YouTube video in preparation for writing a story. That is what took place today. I get moved by the details. Watching a younger sibling who has Batten disease as she helps her older sister to do something that she is now incapable of doing by herself. This while exhibiting the love that is there while she is doing so. These are the kinds of things that often move me in a big way. Writing is not something that I do full time. I actually work in the aviation field on components for helicopters that fight fires. I work in a shop in which I spend a lot of time with male co-workers and I do so for a lot of hours. I bring my laptop with me, using breaks and lunch to write or get organized to do so. Sometimes, I will have to stop typing as I put my thoughts into words. This is because I can feel myself getting worked up beyond the point where it is safe to continue. Am I somehow exhibiting a pathetic show of emotions as a male individual? Whatever your opinion might be, I can tell you that it is possible to be strong while at the same time, also being sensitive. You only have to allow yourself to become vulnerable. Kids that battle a rare disease like Batten are to me the most special. Others might agree but first, they have to be shown some things.
A person first has to be made aware. Most people won’t even think about kids that battle a rare disease. Many might be reminded that such a thing exists only to shrug their shoulders and move on. After all, the plight of these kids doesn’t concern them. The result could be different for those who take the time and who show some interest. If a person pays attention and takes the time to be involved, they may be changed. They might end up giving a piece of their heart to these kids. As I have said in the past, if that happens, a person may come close to giving these kids all of it. I repeat myself frequently as I write these stories. I do so because I like to place emphasis on things that I have mentioned before. Things that apply to each family that battles alongside their little warriors. Each story is unique because each one shares the details of a different family’s journey. However, there are some things that all of the stories have in common. After all, these are children that we are talking about. The things experienced while battling alongside them can be those which the families share in common. Undying love and a bond that cannot be broken. These are just two examples of what a parent or caregiver of a Batten warrior will come to understand. Battling illness is something that should only be experienced by those who have aged. It is so difficult to watch when a child suffers through something like a rare disease.
One question that I have asked frequently is this - What is it about these kids? Is it the feelings that are produced in us as we consider the plight of these children? Is it just what we are feeling or is it that there is truly something special about them? When something like the loss of a child’s eyesight occurs and they bounce back from the disappointment. When we see them press on in life, finding the joy in living again and showing this through laughter and innocent smiles that can still light up a room. Should we not find that a cause to be amazed? When a child can no longer communicate verbally with us but we can see the love that is there. We can see the love that is being reciprocated as the child’s eyes light up in our presence. There is that smile again. The smile that gives many parents encouragement to move forward and fight for another day. So familiar to me now are the images of the children that battle CLN2 Batten. CLN2 is just one of 13 variants of Batten disease but it is one of the most common forms to affect young children. Oh, how I wish that all of the kids that battle Batten had access to Enzyme Replacement Therapy. Even so, I am thankful that this therapy is available to these beautiful children that battle CLN2. The images that I speak of are the ones that show these kids wrapped in bandages. This as a result of the treatment that they receive every two weeks. What a commitment on the part of the families as they travel to have this procedure performed.
These kids are such troopers. For many of them, the side effects and complications associated with enzyme replacement take their toll. This, each time they undergo the therapy but again they always bounce back. The images of these sweet faces surrounded by bandages will always stay with me. Innocent children enduring more than most any adult will see in a lifetime. The things that they go through will not take away the joy that they have for life. Being in large part, unaware of the enormity of what they face, they simply press on. They do what kids do in every way, for as long as they are able. They battle so hard and they do so, so sweetly. It would be so easy to focus solely on the negative impact that something like Batten will have on a family. They do not call what is experienced by Batten families a “journey” for nothing. There are many struggles along the way and I try my best to detail these in the stories that I write. I do, however, try my best to make the love stories that are produced by these families my focus. There is sadness yes, but a love that is profound and undying. There is a bond that is formed that can never be broken (you wouldn’t want it to be). There I go, repeating myself again. With all of this in mind, I am headed towards telling the story of another family that personifies most everything that I have just talked about. Having sought to be a normal family, finding success as such, they have become much more than average when compared to your other families. Let’s not wait any longer to get started.
Gail Baxter grew up in the city of Carlisle, which is a town that is close to Scotland and in the northern part of England. Growing up, she thought about what her life might be like as she grew into adulthood. Whatever the case may have been in her thinking, she would find success in whatever she endeavored to do. Gail would grow to be a take care of business kind of individual. She would move from Carlisle to the city of Newcastle in her early adulthood and she would begin a career in the banking and mortgage sector. Gail would work her way up to a managerial position by climbing the ladder. She started her ascent serving in positions such as financial advisor and customer service manager for the Northern Rock Building Society. One day, she would begin to manage people, overseeing a team of sixty individuals. Gail was a coach and a person who helped in developing the talent of others. That is something that she thrived in and also, something that she thoroughly enjoyed doing. She had found success in her work life but there was more to life than just working. There was more for Gail to yet experience. The sun was shining on a bright August day. It was actually a Bank holiday in the UK that day and the year was 2006. Gail was out with her sister Emily and they had found their way into a bar which was named Osbornes. This was a well known and well put together establishment in Jesmond (a suburb) within Newcastle.
As the two ladies were enjoying their conversation, in would walk members of the Newcastle Vipers Ice Hockey team. One of the players, who by the way, was brand new to the team was a gentleman named Matthew Rich. Matthew had literally dropped his bags off in the hotel where the team had just arrived and had headed to the bar with his new teammates. Matthew was originally from Glasgow, Scotland and had grown up playing hockey. He had even moved to Canada when he was young to play at the high school level. Matthew had attended school and played hockey for Brock high school in Cannington, Ontario his first year and then headed to Notre Dame High in Wilcox, Saskatchewan to play his second year. Hockey was a huge part of Matthew’s life and Canada was, of course, a great place to further develop his skills. Matthew also sharpened his abilities by playing at the highest level within minor hockey in Canada. This as he played for the Central Ontario Wolves. He had even played for Scotland’s U21 Hockey squad (Under 21 age group) in preparation for a career in professional hockey. Matthew’s career had developed, just as he would want it to and here he was, a member of the Vipers and in Newcastle at Osborne's. This is where Matthew Rich and Gail Baxter would meet. Mathew had walked over to talk with the two sisters and he and Gail would gain an attraction towards one another. Neither of them knew at the time but they had each met their life partner. Before they left each other’s company, Matthew had put his number into Gail’s phone and a friendship would quickly develop.
Texts and phone calls would be exchanged as each one continued on in life with their individual careers. The two of them would soon after begin to date as their relationship continued to develop. Gail was not too familiar with the world of hockey at the time that she and Matthew would meet but she would soon get a crash course in the sport. This, much to her amazement. Gail explains, “I had never seen an ice hockey game before and was soooo impressed!! It is such an amazing sport to watch. I couldn’t even stand up on the ice and to see Matthew flying around the ice with such speed, strength, and skill was just incredible – I loved it!” Gail would have the ability to watch Matthew play in Newcastle for a few months until he was signed by a team named the Manchester Phoenix. This would mean a move for Matthew to a town name Hale, which was about 13 kilometers from Manchester. With this, Matthew and Gail would embark on a long distance relationship. Gail would not let the distance between them get in the way. She began to travel the distance necessary for them to spend time together and to see Matthew play. This would take place most every Friday after she finished at work and the trip would take over two and a half hours one way. She would return to Newcastle in the early morning hours on Mondays, in time to go straight to work. That is commitment but it was well worth the effort as Gail and Matthew continued to grow in their relationship. It is amazing to think about how the two of them would meet and fall in love. They could have missed meeting each other by an hour's time and would have never met at Osbournes but their relationship was one that was meant to be.
Matthew’s career would continue on as he had put in the hard work that it takes to play at a high level. All of the training, practice, and play in competition had really paid off. Hockey had become a way of life for Matthew and Gail was more than willing help by supporting his pursuit of excellence. Sadly though, things would take a drastic turn as the couple took a vacation together in Egypt. It was at that time that Matthew would come down with a severe case of food poisoning. The reaction that took place was one that was extreme and that would land Matthew in the infectious disease ward in Glasgow. This would happen as soon as he and Gail had returned home and he wouldn’t leave that facility for weeks. Matthew couldn’t walk and was bound to a wheelchair upon leaving. He would be diagnosed with Reactive Arthritis and it would take around six months to recover from his illness. Just to walk again, handling his own weight was a struggle but Matthew would overcome and get his health back. Gail would tell me that Matthew’s hockey club was very supportive during the ordeal and they would reinstate him after he returned to full health. Matthew would train and then return to playing hockey when he was able to compete. Being a professional athlete and staying at a competitive level is not easy. Recurring injuries can often take their toll on a player and that is what would take place in Matthew’s case. An issue would arise with his shoulder dislocating. This would take place a few times and it would interfere with his ability to compete. His shoulder was never the same and this would cause him to have to walk away from the sport that he loved.
Hockey was such a huge part of Matthew’s life and leaving was a “massive blow” to his existence. Even so, he accepted what was the reality of the situation. Matthew started to look for work while he and Gail set up home together. Hockey would no longer be the center of the young couples existence but they had each other and they were in love. They now had a life together, although they could not know what that life would entail for them. All throughout this time period, Gail had continued to work in the banking sector and Matthew would find employment working in industry. Life was about work and time spent between the two of them as their new life together continued to take shape. Gail had found success in her work life and had been rewarded by gaining positions of increased responsibility. She had put a lot of time and energy into her work but there was more that she wanted out of life. Before I continue, I should stop to explain that this writer learns something new every day. I am, in fact, learning new things with each story that I write so let me explain. We all know that having children of our own as we grow is a God given desire for most of us. I know there are exceptions. Now being from the United States, I know that most women want to enjoy the experience of being a mom when they grow up. I knew that in certain parts of the world, like down under in Australia and in the United Kingdom, that moms are referred to as mums. However, I did not know that in other places, like Ireland, Wales, and parts of Northern England that mothers are referred to as mams.
More to Life
I think that my readers know where I am going from here. Gail had found success in her work life but there was more that she wanted for herself. She had the desire to be a mam to children of her own and this desire only increased as she met the man that she desired to spend her life with. As a couple, Matthew and Gail wanted children together and that would soon become a reality. Both Matthew and Gail were so pleased when they received the news that Gail was expecting their first child. Just as they would hope for, Gail’s pregnancy would progress without major incident as the time would approach. It was also at that time that things were beginning to change with her work. Gail had been with her company for ten years when as a business her employer began to struggle, and changes began to take place. A reduction in force was coming and this left Gail with some options. What is often called a lay-off here in American is referred to as a redundancy in the UK and Gail would be offered the option of taking part in that. She would take this option instead of going on maternity leave because the timing was perfect for her to begin the next chapter. That of being a mam and raising a family! Gail’s co-workers recommended that she leave work a couple of weeks before she was due to deliver her baby and she agreed that would be a good idea. Gail had planned on having some down time before the day arrived but her baby boy had other plans.
That's right! Their baby, who Matthew and Gail would name Louis, was a boy. He decided that it was time to make his entrance into his parent’s lives a couple of days after Gail left work. Louis arrived on September the 2nd, of 2010. He had all of his fingers and toes and he was the most beautiful thing that his parents had even seen. Babies are by nature beautiful, are they not? Gail explained what she was feeling as she held baby Louis for the first time. I have also included some of what she was feeling after Louis was brought home. Here is what she would say, “... for the first time in my life, I felt I had found my place. I was meant to be a Mam! I remember a few days after bringing him home, we had family around and he was in his crib in the living room. We all sat around looking at him and I burst into tears and said ‘I just don’t want anything to ever happen to him, I want to keep him safe forever.’ It was the most real feeling of protection and I will never forgot that.” Louis was the picture of perfection and purity and he belonged to Matthew and Gail. Was Louis a little hockey player in the making? Well, whatever the case might be, he was adored by his family and still is to this day. His parents loved watching Louis grow and develop into a little man. Watching his childlike ways filled them inside like nothing else could. In all honesty, Louis was not the first baby of the house. That would be Matthew and Gail’s pet Beagle which they name Archie. The couple had researched and found that Beagles were good with children. Archie came to them about three weeks before the couple found out that Gail was pregnant. They, no doubt, loved watching Louis and Archie interact with each other!
Being parents to Louis was an amazing experience for Matthew and Gail. This, just as you would expect it to be. Some people are content with one child and some are intent on keeping things that way. That was not the case with this young couple. They wanted to experience the joy of bringing another little bundle into the world. They again wanted to experience the wonder of seeing those little hands and feet wiggle for the very first time. Gail would receive the news that she was expecting in the summer of 2011 and both she and Matthew were excited about it. They were going to become parents for the 2nd time. Things would go generally well for the first six months as Gail carried baby number two however, a concern would soon arise. It seems that Louis’ brother or sister to be was not growing as a baby would be expected to. For this reason, Gail was in and out of additional appointments because of the concern this created. It would be decided that it was best to deliver the baby by inducing labor three weeks early. Thirty-seven weeks of pregnancy was the goal that was hoped to be reached and that would be accomplished. It was time to bring the new bundle into the world and this would take place at the Royal Victoria Infirmary in Newcastle. It would be on March the 1st of 2012 that Gail would give birth to a tiny, yet beautiful, baby girl. The name given to this precious little person was Nicole Thomasena Rich. Her given middle name was that of Matthew’s Nana. She weighed a slight four pounds and eight ounces but even so, baby Nicole was flawlessly beautiful. She had all of her fingers and toes and she was covered in brand new baby skin!
The infatuation between tiny Nicole and her mam was so strong and it took place the instant she was handed to Gail. There is a special bond between a mother and her newborn child. It begins to develop even before the baby is delivered. The quality of relationship between a mother and her newborn daughter is perhaps greater than can be explained. Here is what Gail had to say about the experience, “That was it, I was instantly and completed besotted!! There is nothing more precious in this world than having your baby placed on your chest for the first time and you feel their tiny heartbeat and know they are yours. You have made this little person. Instant protection, overwhelming love. We could not have been happier.” Nicole would have to stay in the Special Care unit for a couple of nights due to her small size. The medical staff wanted to make sure that she was feeding well. Everything proved to be okay with their precious little newborn and the Rich family was now a family of four. The midwife that had delivered Nicole came to see everyone the very next day. She was so relieved that Nicole was doing well with as small as she was at birth. She was small but very strong and amazing to everyone who set their gaze on her. Gail describes what people were seeing in Nicole as they looked at their newborn daughter, “When we had visitors, they would look at Nicole and say ‘she’s been here before!’ She never had that glazed baby gaze they sometimes have, she was always looking around intently. She fed well, she was such a healthy baby and for as little as she was, she was strong as an Ox! Little did we know this would serve her well in this little life.”
Bringing Nicole home for the first time was, no doubt, a special event. According to Gail, Matthew had described Nicole's homecoming as an “explosion of pink” and I have no doubt that this was absolutely true. Why not celebrate the fact that there was a new little princess in the house? Princess’ and pink just go together. The Mammy of the house had her baby girl and everyone was happy to know this. Gail was now well established as a stay at home mam and this was a role that brought her a lot of fulfillment. Now, the enjoyment that she received as a mam would be multiplied by two. It had to seem so perfect, at that time. She had this beautiful little girl to compliment the son that was so adored by her and Matthew. Just as it had been with Louis, they now had the opportunity to watch little Nicole grow and thrive in the household environment. She would bring so much joy to her family as the days and months passed by. There would be nothing out of the ordinary that would stand out to Gail as she watched Nicole grow. By that I mean in the way that she reached her developmental milestones. It is normal for children to advance in different areas of their development at their own pace. Louis had been quick to reach his milestones and he was a very talkative young fellow but Nicole was coming right along with things as she continued to grow. She crawled and then walked not that long after, advancing to the point of being given the title of “daredevil”. Nicole loved the outdoors and all of the things that went with it. Running, climbing, and going down slides. She was adorable and so fun to watch.
Not Yet Complete
The timing of the reduction in force at the banking institute that Gail had worked for had been perfect! There was no maternity leave to return from, so there was no decision to be made as far as what to do. Gail had been afforded the opportunity to stay at home full time and this was very much welcomed. Especially because there were no grandparents nearby to help with the children. Gail was available to take children to every baby group and play group that there was. She was able to get to know the other mammies from these groups and play areas and this helped her to develop friendships with many of them. This was not to mention the fact that she was able to give her children her own undivided attention while they were young. Matthew and Gail had talked about her going back to work at some point but Gail knew she didn’t want to return to banking. She had a deep desire to work for herself one day and in fact, she had something in mind. I will let Gail explain in her own words, “My dream was to have a coffee shop/tea room and bakery (as I love baking!) and it was going to be called Barndoor Bakery. I have always loved baking and have always made our children’s birthday cakes, made family christening cakes etc. So I thought I might go into cake making – I made our wedding cake and then made two of my friends' wedding cakes too! No pressure there!”
Matthew and Gail knew that Gail would have to return to work someday but the children were young and they wanted to afford them the opportunity to have their mammy around for as long as they could have Gail home. There was something else that would shape their future as a family and that was the feeling that they were not yet complete in the size of family that they wanted. To some, having a girl and a boy seemed so perfect. Why not just call things good and move towards the next stages of family life? Gail explains her feelings in this way, “When we had Louis and then Nicole, a lot of people assumed that was us, one of each, but we didn’t feel like that at all. We were blessed beyond anything we could imagine but I still had a sense deep inside, that I wanted another child. As much as I adored and loved Louis and Nicole more than anything in the world, I just had this feeling that I was not complete.” It was just a fact that for this couple, there was more yet to be experienced. Both Matthew and Gail were people that had shown that they could achieve the things that they had set out to do. They had plans for a life together and the future was still largely in front of them. Things looked bright for them even if their circumstances had changed. Both being intelligent people, they could work together and focus on what their future would look like. Even with this, they were not quite ready to stop increasing the size of their family. Gail explains, “I adore having children, to care and protect them, to feel their love, to have their tiny arms wrapped around your neck. There is nothing more precious or that brings you more joy than the love of your family.” There was more yet to come and much more that would be experienced.
Matthew and Gail’s life would, one day, be redirected by the circumstances that they would find themselves in. At the time, they had no idea what lay in front of them. Most always, we cannot see all that the future holds for us and sometimes, things take place that seem overwhelming at the time. Whatever the case might be, the Matthew and Gail would face life together. They had been joined together in their hearts from the beginning of things and it was always their intent to be committed to one another. Those intentions would really start to take shape as Matthew proposed to Gail in February of 2013. The very sweet thing about the way that things were done was that everything now included the children. The event began to take place as Matthew enlisted the help of his own mam in Glasgow on a secret mission to get the engagement ring resized to fit Gail’s ring finger. There was a bit of clever deception that took place as Matthew claimed that he had left his wallet there in Glasgow after they had visited. He needed to meet his mam halfway in order to get the wallet back (every man needs his wallet) but in actuality, it was the ring that had been resized that he was after. He returned home with it in his pocket, and with Gail being “completely oblivious!” Gail explained what would follow, “He proposed that night and it couldn’t have been more beautiful. It was nearly Nicole’s bedtime so he asked me to get her ready for bed. I started to get her ready and I saw a pink ribbon round Nicole’s tiny tummy with a ring tied to it! I couldn’t believe it! It was a total surprise and such a perfect way to involve our babies. Louis came in with Matthew and got down on one knee and proposed!”
It would be one year later that this mam and dad of two would become man and wife. The date for the big event had been set and it would take place on the 1st of February in 2014 at a place named Matfen Hall. As Gail would put it to me, Matfen Hall is “a stunning and stately home in the beautiful Northumberland countryside.” To look at the pictures would tell everyone that this is, in fact, the truth. The estate is beautiful even from a great distance away and that is where this family affair would happen. Louis was set to be the page boy and the “bestest man” as Matthew’s brother would serve as the official best man alongside Louis. Nicole would serve as the flower girl and you can only imagine that watching Louis and Nicole doing their part was a reason for people to smile. Gail would explain that Louis was dressed in an adorable little kilt and a sporran. The sporran would be filled with his favorite drumstick lollies and other sweets. Little Nicole was dressed beautifully, having a special floral tiara and a wand made just for her. The entire experience would be captured in order to provide precious memories that could be viewed at a later date. Gail talks about the video as she gives some detail about that special time together, “We had contemplated having the wedding videotaped and at the last minute we decided to go ahead. Thank goodness we did, because we now have the most precious, precious memories of that very special day. Nicole running along the front of the guests squealing, excited as we were just about to say our vows! When Louis gave us the wedding ring on a tartan cushion with the ribbon tied around it to hold the ring .… he then says to Daddy ‘look, it’s a present daddy’…. and indeed it was.”
Matthew had used the same ribbon that had originally held the engagement ring onto Nicole’s tummy for a special purpose. It was used to have Gail’s wedding bouquet tied together. What a great symbol of thoughtful intent and commitment that would turn out to be. Everything that was done, was done thoughtfully. This would be an event where the newlyweds would be surrounded by friends and family on what would be an extremely special day. A life spent with each other had really come together. Life as a family of four would continue and it would continue to be a beautiful story in the making. It would only get better as the next big event would take place. This would be the announcement that Gail was expecting child number three. The Rich family would soon be increasing in size as Gail would be expecting once again. There would be several false alarms along the way and the news would come a little later than it had before. Both her and Matthew were ecstatic with the news that Gail was expecting again. She had, in fact, been convinced that they would have another little boy this time around. Gail explains, “I was drawn to boy’s names, and to boy’s clothes. I was playing out scenarios of how Nicole would be protected by two brothers! Ha ha!” Gail would be monitored more closely during her pregnancy than she had been previously. This was because they wanted to ensure that the baby had been growing as expected. All had turned out well with baby Nicole, however, her growth in the womb was not what one would hope for. Things would go well with this pregnancy and the day would arrive.
The Perfect Number
Just like it had been with her big sister (that’s right, the baby was a girl after all!) the new addition to the Rich family would be born at the Royal Victoria Infirmary in Newcastle. The new princess would be born on the 18th of September in 2015 at 5:45 pm. This baby girl came to her family weighing in at six pounds and one and a half ounces. Just like her big sister had been when she was born, this little girl was flawless and she was flawlessly beautiful. Yes, that’s right! She had all of her fingers and toes and she was covered in brand new baby skin. Gail describes the big event and how her life was impacted by that day, “...our darling second daughter came into the world and the second she was placed on my chest I felt complete. There is no other word to describe it. The longing I had felt in my heart for a third child had gone. I had been blessed beyond belief and my life as a mammy of three was a dream come true.” Matthew and Gail had chosen the names Harper or Belle for if the baby was a girl. When they looked at their newborn daughter neither name fit for one reason or another. Their daughter would actually be named “baby no name” upon leaving the hospital because they couldn’t decide on what her name should be. They had thought about the name Jessica at one point in the pregnancy but had forgotten about it. Matthew’s mam would remind them by asking, “What about Jessica?” The young couple looked down at their beautiful little baby and thought, “that’s it, Jessica is perfect!” And so, she was named Jessica Annie Rich. She received her middle name after Gail’s Nana who was named Annie.
Before that would take place however, they would leave the infirmary a family of five, ready to take on what life would bring their way. Still at this time there existed the fact that Matthew was the only one working and this would allow Gail to stay home with the children for an extended period of time. There was no end to a maternity leave that had to be dealt with. She was there for everything like all of the baby groups, school drop-offs and pick-ups. Gail was there to see her kids grow and to reach new milestones and she was there for Matthew when he arrived home from his day. Gail figured that this was time that they would never get back. This was hers and Matthew’s thinking, even with not knowing what lay ahead for them. There were so many life events that they looked forward to as they thought about what the future may hold. There were thoughts of children and their schooling as they graduated and moved onto all of the levels of education. Would these three attend college, or would they work in a vocation of their choosing? Would they work in the family business that Gail had dreamed of having? Perhaps Louis would be an athlete like his father. There could be family gatherings of all kinds and time spent together throughout the years. Christmas’ and weddings, these were some of the possibilities for what could take place. Being a family could also bring hardships. There are often difficulties that can come along as time passes. Part of being a family is dealing with situations as they arise. Scrapes and bruises or a broken bone are the kinds of things that one may expect as children are growing up. Some children are born with special needs and others require greater attention in school.
Going through life together and dealing with life’s difficulties is part of what being a family is all about. There are things that just don’t come to a parent’s mind under normal circumstances. There are so many unknowns that can take us by surprise. That is also part of living on this planet. Something like a rare disease is one of those unknowns that can appear out of nowhere and there was no way that Matthew and Gail could know. There was something in their future as a family that would change life for them forever. Everything had gone so well with young Louis as he progressed and developed. Things would be different for beautiful Nicole during her early development. It would soon be clear to her family that they had a special set of circumstances with her. One thing would be noticed as early as two years of age and that was that Nicole was behind in the development of her speech. It would be at her two year check-up that it was noted, Nicole was not saying any words yet. As a result, language therapists would be called in to intervene. Even with this, Matthew and Gail would not be overly concerned at this point. After all, Nicole was understanding what was being said to her and she was following instructions. They just thought that her language skills would come with time. Little Nicole would receive over one hundred therapy sessions using methods such as visual timetables and pictures cards. It would seem that she would begin to get the hang of things but would lose interest.
Time would continue on and more people would take notice in regards to Nicole’s lack of skills in the area of her speech. Both the teaching staff, as well as her speech therapist, were concerned as Nicole entered the pre-school environment. Nicole was just not progressing, in spite of all of the added attention that she was receiving. It must have been so disheartening for people to look at that darling little face and to know that Nicole was struggling the way that she was. The concern that Matthew and Gail had over Nicole had to be increasing as the days passed by. There had been an additional concern that had been noted while this had all been taking place. That was the fact that Nicole was having an issue with a lack of concentration. Nicole had not yet spoken a word as she turned three years of age and at this point, her situation was alarming. It was time to seek medical attention in order to try to find an answer and the first place to start was with the pediatrician. It is a challenge anytime one of multiple siblings in the house requires extra attention and I know that this would be a challenge as things continued to develop. Little Nicole would undergo a series of cognitive and behavioral tests to try to determine what was taking place. As the testing was completed, a result would be given showing the diagnosis of Global Developmental Delay. GDD is really just a blanket term that is applied to children that show significant delays in their cognitive and physical development.
This would certainly fit with what the family was seeing in Nicole. She was delayed in almost all of the areas of her development. How difficult this must have been at this point. Nicole was, at three years of age, displaying the behaviors and characteristics of a child that is 18-20 months old. She had been first seen as a child that would catch up at her own pace, but now, that was no longer a possibility. The subtle regression of her skills was now, much more obvious. As Gail had stated in a piece that she had written for BDFA of the UK, “We had been watching our baby girl deteriorate in front of our eyes completely oblivious to the reason.” Developmental delay is something that a family can live with in a child. It does take an adjustment in a person's psyche. A parent will learn that they have a special case on their hands and they will come to terms with the fact that their child may need their help over an extended period of time. It could be caused by something that happened at the time that the child was carried in the womb, or it could be something that is out of order genetically. People with special needs have a special place in society and especially, in their families. In Nicoles case, there was more that was taking place. Much more! It would be just days after the diagnosis of developmental delay that Nicole would have her first seizure. There are not many things that are more frightening for a parent to see happen. This little porcelain doll of a child was seen to experience something so terrifying to her parents.
There was no history of epilepsy in the family and Nicole’s parents had no idea what was going on as the initial seizure was taking place. Gail described that first event with the following, “It started with a twitch that traveled up her little body. She then went lifeless, turned blue, and then stopped breathing.” Can you imagine how terrifying that would be for a parent to witness such a thing happening with their child? Matthew and Gail truly thought that they might lose their tiny princess at the time that the seizure was taking place. Like most any set of parents would, the Riches made sure that Nicole was seen at a hospital, and afterwards, an EEG would be performed. The result would be that she was given the diagnosis of focal epilepsy. Focal epilepsy is simply a condition that involves recurring seizures that can affect any one portion of the brain. The doctors would come to believe that there was an underlying syndrome involved in Nicole’s case but they did not know what it was. They were not immediately able to piece together all of the symptoms that they were seeing in Nicole. What would transpire was a search for answers that would take place over a more than two year period. All the while, this sweet little girl continued to regress. The Rich family would experience an attitude of love and concern on behalf of the medical professionals as they tried to help. Gail would use words like “amazing” to describe the care that they would receive but the answers that they sought after would not come quickly. Nicole would, of course, be under the care of a neurologist and the Riches would return there frequently looking for help. This was in addition to visits with Nicole’s pediatrician.
The problem was that her issues were related to a rare condition that was escaping those who were trying to help. You can only imagine that medical professionals would look at someone like Nicole and would want to give her their very best care. She is someone who would melt most anyone’s heart. Just look at her! Gail speaks about what she witnessed during this very confusing time, “They really wanted to help us and bonded very quickly with Nicole. Our pediatrician used to call Nicole ‘poppet’, it was so sweet. Nicole would walk into the room and everyone would instantly connect with her. She was just, and still is, adorable! Because she was so small, she looked even cuter and as she was mischievous, it just added to her infectious and loveable character.” It would be at the time that Nicole’s mobility started to become affected that her parents really became concerned. This had to be more than just simple epilepsy. Nicole would begin to fall frequently, stumbling and never really having control as she walked. Yes, it had to be a syndrome that was yet unknown and there needed to be a conclusion to the search for an answer. Matthew and Gail urged the doctors to continue testing until that answer was found. This family knew that something wasn’t right! People reading this story will already be aware. The Rich family had begun a journey that involved a diagnosis for a rare disease named Batten, known clinically as ceroid lipofuscinosis, neuronal. The problem is that Batten disease is one of 7,000 rare diseases that affect children.
The disease has seen an increase in awareness in recent years but that is not the case in every place throughout the world. More doctors have knowledge concerning Batten disease but not in every place. It is also true that many of its symptoms are shared with other diseases. For the most part, it can only be confirmed through genetic testing and that happens when you have an idea what to look for. The majority of the medical professionals that Matthew and Gail had come in contact with had never heard of Batten disease. Even when it came to Nicole’s neurologist, he had only seen one case of it in twenty years of practicing medicine. The insistence of Riches would eventually pay off even if the result would be completely disheartening. Eventually, doctors would think to have blood drawn to check for a metabolic disorder and to have it sent to the Great Ormond Street Hospital in London for testing. The results of the testing would eventually come back and the Riches would be contacted. The doctor wanted Matthew and Gail to come in to get the results. They wanted them to come in by themselves and without the children. On the way there, the couple thought about what they would possibly encounter with the news. Would their daughter be wheelchair bound for the course of her entire life? Would she remain in her parents' care for many years to come? There were so many things that were unknown to them in that moment and the news would be worse than anything that they could imagine.
Once arriving at the hospital, the Riches would be met by a team that included the pediatrician, a nurse, and a neurologist. Once there in the room with the medical staff, Matthew and Gail would be given the news that their beautiful little girl had CLN2 Batten disease. These are dates that one may never forget although a person may wish that they could. September the 16th of the year 2016 is the day that they first learned that such a thing as Batten disease existed. They would learn the details of what would take place with little Nicole. They would learn that there is not a cure and that the disease is fatal. There usually are not words that can fully describe what a parent is feeling at a time such as this, however, Gail fully explained the experience with these words, “Nothing can ever prepare you to hear those words. It felt like we were looking in on someone else being told. Like it wasn’t real. We kept saying “ You can’t be talking about Nicole, you must be wrong.”…. It was a physical pain, like our hearts were actually breaking. It was the worst moment of our lives.” For a long time, doctors were incapable of doing anything other than to tell the parents of a child with CLN2 Batten …. “Go home and make your child’s life as amazing as possible” Gail would share hers and Matthew’s initial thoughts. Were they just meant to go home and watch their innocent beautiful Nicole deteriorate and die? There was hope for a course of action but in those moments, there was only despair and grief that was unbearable.
So many different things would take place in the weeks and months that followed Nicole’s diagnosis. The Riches would learn much more about the disease and they would connect with the Batten Disease Family Association (BDFA) in the UK. Matthew and Gail would learn that they were far from being alone in this journey. This was very much welcomed, even if knowing this could not take away the pain that they felt. One thing was apparent as they learned that this was a genetic disorder. That was that it was possible for their other children to be affected. Louis was past the normal age of onset and he had shown no symptoms, but what about baby Jessica? The only thing that could make the news concerning Nicole worse than it was, would be if they would learn that Jessica was also affected. They of course, would have Jessica tested genetically and the outcome would not be good. The grief that they now carried would be multiplied by two as their hearts were broken for a 2nd time. This would also take place in 2016, three months later in December. Jessica’s test results had shown that she also had CLN2 Batten disease. The news couldn’t have come at a worse time. The Riches were beginning their travels with Nicole to a Starlight Lapland wish trip that is hosted by the Starlight Children’s Foundation. Jessica, who was only fifteen months old at the time, was staying with Matthew’s parents in Glasgow.
It was difficult but necessary to leave Jessica as this time was meant for focusing their attention on Nicole while also making memories. They had “cuddled'' Jessica and said that they would see her in a few days. Matthew and Gail would leave, not knowing the utter despair and pain that would follow. How could this be happening to both of these innocent little faces? Being a mam to these children had brought Gail to the place that she had longed to be. Matthew had to have been beaming with pride over this beautiful family that was his responsibility. Now however, he was met with concern that was overwhelming. Again, what was being felt would be more than most could describe, however Gail paints the picture perfectly with these words, “I still don’t know how we were able to get through and how we managed to hold it together as well as we did. I remember wailing and screaming, I felt like the life had been sucked from me, I have never felt so helpless or so weak. It was definitely a physical pain, but my mind was in pure turmoil.” It would be early after Nicole’s diagnosis that the Riches would learn about a life changing treatment that had recently become available. Through BDFA they would learn about Enzyme Replacement Therapy. A child that has CLN2 Batten disease is missing an important enzyme that is responsible for cleaning wastes from cells in the body. In particular, this has a big impact on the cells in a child’s brain as they are not able to rid themselves of the waste. Enzyme Replacement is a pioneering procedure that uses a solution that takes the place of the missing enzyme. The solution is administered directly through a device which sits inside the skull. Nicole would gain entrance into the program on a compassionate use basis and she would begin therapy in January of 2017 at the Great Ormond Street Hospital for children.
How difficult would that have been to deal with the realization, back on that day in December. Jessica also had Batten disease. She was only a baby. A time meant to honor Nicole and to further process their feelings had turned into an even larger nightmare. Gail explains the feelings of desperation and the resolve that would follow, “I remember pacing the corridor outside our hotel room, hysterically phoning our social worker, asking her ‘what are we going to do?’. We spoke to Harriet at the BDFA from the airport, as I was desperate for someone to start looking at how we could get Jessica on treatment like Nicole. Through the devastation, we jumped into practical mode and wanted as many people looking into it as we could.” Little Jessica was so young that it was well before the time that she would start showing symptoms of the disease. In a very real sense, Nicole would become a hero to her baby sister, even if they were both unaware of that fact. Why would I say something like this? Two things were in Jessica’s favor. One was that she would be diagnosed before symptoms appeared. The other was that Jessica could potentially begin to receive enzyme replacement before any damage could be done. The goal would be to get Jessica started as soon as possible. It had taken over two years to determine the cause of Nicole’s symptoms and there had been a progression into the disease. Nicole had paved the way for early intervention towards her little sister.
Beautiful Nicole would be given one of the final places within the compassionate use program for enzyme replacement. Little Jessica was another story all together. A child had to be at least 3 years of age to begin the trial and Jessica was only 15 months old. Besides this, all of the places in the program that Nicole was in had been taken. There was no place that Jessica would fit into but this would not stop her parents from working on getting her what she needed. They would begin a desperate search to get Jessica accepted into a program. In the course of time, Matthew and Gail would learn that there were sibling programs in Ohio of the USA and in Hamburg, Germany. Both of these options would each present a different challenge. That is if they could even get Jessica into one of these programs. There are however, not too many challenges that these families will not accept on behalf of their children. Even with this in mind, an exception would have to be made for Jessica to be accepted into a program. The best option would, of course, be the trial that was taking place in Hamburg. This even though the travel time by air, all total, would be around eight hours. The Riches began calling the BDFA and BioMarin, which is the company responsible for the clinical trial. They also called the doctors in Hamburg that were involved with the program. It would not be easy. Nicole was already getting her treatments done in London every two weeks at GOSH. That, in itself, would be enough with traveling there from Newcastle every other week.
It didn’t matter how difficult the circumstances though, the Riches pressed on because they had no other choice. Gail explains the outcome with the following, “It was a difficult time for us because we knew that time was of the essence and Jessica didn’t fit anywhere. So, after many emails and phone calls, Biomarin agreed to amend the protocol and reduce the age limit to allow Jessica to join the trial….”. Jessica would begin to receive Enzyme Replacement Therapy at only 21 months of age. This would take place before any symptoms whatsoever began to appear and that was so important. Jessica would “pave the way” for other children to receive enzyme replacement safely at a younger age. Just like her big sister had, Jessica would need to undergo the surgery. This was to implant the port that is needed to accept the fluid for enzyme replacement. There on the operating table would be this tiny child who had shown no symptoms of Batten disease. Gail stated that for Matthew, signing the consent was the hardest thing that he would ever have to do. She was still a baby and still perfectly healthy but it had to be done. It was the best thing for her. Something that was even more challenging was the fact that the Riches would have had two children receiving enzyme replacement in two different countries. Can you imagine having to travel a distance with one child that is three hours one way and then, also having to travel to Germany with the other child? Of course, the hope would be that Jessica could one day have her treatments done at the same location as her sister.
That would not take place right away or even soon however. Jessica would travel with one or both of her parents to Hamburg for ten months before a sibling program would open up at GOSH in London. At first, both Matthew and Gail would travel with Jessica but that would prove to be too much. Germany one week and London the next. We haven’t mentioned Louis too much yet. We haven’t talked about the effect all of this would have on him. So much time would be taken to deal with the issues that surrounded his two sisters. There is always a challenge for the siblings that are unaffected and making sure that they are not neglected is important. For this reason, Matthew and Gail would make the decision that only one of them would fly to Germany with Jessica. That responsibility would be taken up by Matthew as he traveled with Jessica every other week to her infusions. This would ensure that Louis had more time with his mam and less time of being left in someone else's care. They would also make sure that both girls were receiving their treatments in the same week so that they had more time together at home as a family. Gail stated that at the beginning, the girls were receiving the same treatment on the same day, only in different countries. Matthew, in looking at the number of flights that had been taken in that ten month period, placed it at around 300 flights. There were no direct flights available from Newcastle to Hamburg and the locations of the connecting flights are too numerous to list here. You do get the idea though. Life was very hectic and this family would have to warrior on.
A Family Together
The commitment on the part of Matthew should make it obvious to everyone that he is an outstanding father who loves his family! Obviously, I have personally, never been to the Great Ormond Street Hospital in London. I have read about it and I have read comments made by people that have been there. It is a very outstanding hospital with a rich history of caring for children. It is a very special place and they would open up a siblings program, just as was stated earlier. Ten months after Jessica began her treatments, she would begin to get her infusions at the same time that her big sister would receive them. At the same hospital! There were no more flights to jump on every other week and less separation time as a family. Gail said that Jessica “transferred smoothly and without any apprehension”. She would also refer to her as being “one adaptable little lady” and I might add a darling little lady as well. So often, I use words like “special” and “amazing” to describe these children who endure more in their young lives than most adults will see in a lifetime. Their innocent little ways remain, even as they go through everything that they encounter. There truly is something special about them. Gail describes what she sees in both of her little girls with this, “Both girls are so tolerant, so resilient and super brave. We are in awe of everything they endure, always with a smile on their faces. We get our strength from them.” Gail said that they are currently talking to their local hospital, hoping that the girls will soon be able to receive their treatment there.
What a difference that would make as the travel time would be reduced to a mere fifteen minutes. That would be a great reward for all that they have had to endure. From Germany, to London, and then to treatments at home in Newcastle. This would be best for everyone and that includes Louis who has had to hang in there. He has been such a trooper! So often, the siblings of children that have special needs have to take a back seat to the kids that battle. The attention that is required often robs them of the attention that is due to them. Both Matthew and Gail are intelligent people who understand that this can be a real issue. They take the necessary measures to make sure that Louis knows how special he is. Here is just a little of what Gail had to say about her son, “Louis is 10 years old now, and we cannot put into words how much we love him and how proud we are of him. He is a sensitive, thoughtful boy, who has had his struggles watching his sisters go through what they have. Surgery, testing, regular hospital visits, we always make sure we make time just for Louis.” The Riches make it a priority to spend time with Louis as the regimen of a Batten family’s life continues on. It began four years ago and continues to this day. With all of the feedings for Nicole and all of the special medical needs, they make sure that Louis is not forgotten about. Louis loves playing chess with his father and going on bike rides with his mam and dad. He is a rugby player on a local team and is involved in the Cubs. He also enjoys time spent with his mam and dad during family movie night. Louis loves going to school and being with his classmates.
Matthew and Gail get the affirmation that they are doing a good job with Louis through the comments that they receive from others. Louis is considered to be polite, well mannered, and considerate. This is the kind of thing that takes place as parents take the time to show a child that he or she is loved. Louis, of course, knows what Batten disease is and he knows what it does to children. He has watched the effects of the disease take their course with Nicole. Louis has watched as his sister has gone from running and playing to losing her skills and becoming dependent on others. Gail stated that it is difficult and heartbreaking to see how he is affected by this. She went on to say that Louis would often remark about how he would send fighter jets into Nicole’s brain if he could. This, to blast the disease with something that it hates in order to destroy it. In his youthful way of thinking, he tries to think of ways to battle Batten disease. Louis is inquisitive and asks a lot of questions. Matthew and Gail have always done their best to answer his questions in an age appropriate manner. What do you do when a child asks you if his little sister is going to die? How do you deal with something like that? This is just another kind of challenge that is faced by Batten families. Gail said that hearing a question like this was like an arrow had been placed in their hearts. Louis has grown in his understanding of Batten disease over time and the Riches have helped him in that way. He is a young man that most any parent would be proud to have for a son. Obviously, he is a special big brother as well.
As Matthew and Gail began this journey, they had found a lot of support within the medical community for what they were going through. People wanted to help in every place from Nicole’s school to the various doctor’s offices. There was however, not a lot of knowledge when it came to Batten disease. Being only one of thousands of rare diseases that affect children made a difference. The disease does not always come to mind when doctors are looking at symptoms. What they see is most often misdiagnosed as being something else as the search for answers continues. The BDFA (Batten Disease Family Association) is trying to change this. For the Riches part, they formed a non-profit foundation named the Nicole and Jessica Rich Foundation in January of 2017. They wanted the work that they do to be a legacy on behalf of their two beautiful daughters as they attempt to have a positive impact. This, on the lives of those who battle Batten as they raise awareness and funding. They want to do things to support research, the BDFA, and to help with their daughters' needs. Like with many of the other non-profits there in the UK, the Rich family, through their foundation, has organized some impressive events to raise funds. From holding the world’s largest half marathon to having a climb to the top of the highest peak in the UK. From something as difficult as an event involving an assault course to something as simple as a Christmas coffee morning, they do a few fundraising events each year. Like it has been this year for every non-profit, their’s has been impacted by Covid-19.
This has obviously not dampened Gail’s spirit. You can see that as she talks about her favorite event and the impact that the events have on them as a family. In her words, “The most special event to us is our fundraising ball which we have hosted for the past three years, ‘The Sweetheart Ball’ named after our sweethearts! 2020 would have been our fourth event, but due to Covid-19, it couldn’t go ahead so we are committed to make the 2021 Sweetheart Ball the best yet!!! We put our hearts and souls into organising and planning the event so it means the world to us to see the amount of support there is for our little girls and our family on that night, it is truly humbling.” They are proud of what the foundation has been able to do and so appreciative of all of the wonderful support they have received. I can only imagine that people look at those two little faces, and knowing the plight of these girls, they only want to help. Gail continues with these words about the support that they are receiving, “We have been blown away by the level of support we have been shown, people are always thinking of us and how they can help. It really makes you feel like you are not alone and there are so many people who want to help you make a difference. We are so thankful for every penny.” The funds that have been raised has assisted in the Riches being able to afford specialized equipment. Things like a bath seat and a car seat for Nicole.
In addition to lending support monetarily to the BDFA, they donated a sum of money to a research team at UCL London in 2018. This funding went to a gene therapy research project meant for saving children’s eyesight. The Nicole and Jessica Rich Foundation will continue to give to projects that appear to be worthwhile as they are able, and will continue to aid families that have children that battle Batten. Fundraising and raising awareness are two things that they will never stop doing as the foundation seeks to make a difference. We never know what life will bring our way and the Riches are making the best of what life has brought to them. They have fought battles for kids that battle Batten alongside other families within the UK. The most notable battle was the fight to secure the funding of Brineuera (enzyme replacement) through the NHS (National Health Service). The fight to have this treatment funded was exhausting for all of the families that were involved. The reasons why this was so important should be obvious. That being the little faces with trusting eyes that look up to their parents for help. This pursuit was worth every bit of energy that it took on behalf of the Rich family as they joined with others in this cause. Those that battle Batten alongside their children are a special bunch of people. Only they can truly know what it is like to go through what is referred to as a journey through Batten disease. I’ve been told that in many ways, the road that these families travel is a lonely one. The loneliness that is sometimes felt is lessened by knowing that there are others that know what it is like and who are willing to come alongside. It also helps to know that there are people who try their best to be empathetic and helpful.
Important to the Rich family are the people that they have connected with through this hardship. Matthew and Gail are two people that just wanted to have a family together. They have been asked, however, to deal with something that most will never know about. I liked what Gail had to say as she shared her thoughts. Here it is in her own words, “Ours is a difficult road but we are never alone. We have each other, we have our friends and family. We also have the wonderful Batten Disease community, who have become like family. There are few people in the world who know what it is like, then even less who know how it feels to have the diagnosis twice. Through devastating circumstances, we have connected with some truly wonderful, caring and inspiring people, who we would never have known had it not been for our daughters illness.” Like most of the families, the Riches had never heard of Batten disease before they were given the news concerning Nicole. Their grief was then multiplied by two. There is no telling what their lives would have been like if Batten had not reared it’s monstrous self into their existence. They were at first, “carefree and spontaneous” but now, their lives are regimented. It revolves around feedings and the giving of medications, this not to mention the trips for the infusions. It is not what they thought that it would be but again, they are making the most of the situation that they have been given. There are reasons to rejoice and embrace the life that they have, but daily, there are also struggles.
Matthew and Gail would be the first to tell you that they have their good days and their bad days. You will never know how strong you can be until you have no other choice! Gail shared the most difficult part of their journey to date with this, “The hardest part of our lives has been to watch our beautiful Nicole lose her abilities. Then see her little sister doing all of the things she once did. We are in the heart breaking situation of being able to compare our daughters who are both at very different stages of the disease. This is why we feel so passionately about early diagnosis because we see the difference it makes to our daughters every single day. It is hard on our emotions because we are rejoicing for Jessica and all she is achieving, but we feel heartbroken for Nicole that those moments were taken away from her because of Batten Disease.” Gail would go on to talk about the fact that in spite of what the disease has taken from Nicole, she remains bright and beautiful. That is so easy to see, even from this great distance away. She is still, very much so a porcelain doll with her big brown eyes that speak love to those who come in contact with her. As I alluded to at the beginning of this story, there has, in a certain way, been a reversal of roles in the relationship between the two sisters. You will frequently see Jessica hovering around her big sister, ready to help her in whatever way she can. The bond between these two sisters is strong and very special. For Nicole’s part, she is the heroine to her little sister. This is because she led the way and allowed Jessica to enjoy a quality of life that she herself has missed out on.
Every time I have chatted with Gail, or have listened to her voice messages, I see or hear a person who is trying her very best to keep things on the positive. Life is not what they would have expected it to be but they are making every day count through teamwork and an emphasis on family. I have found her to be a remarkable person who has made the most of a difficult situation. Matthew and Gail are truly a team. With the following, she explains a little bit more about the adjustment they have had to make, “Getting a diagnosis like Batten Disease quickly makes you re-evaluate your priorities and you soon know what is important in life and what is not. It is not the life we planned or envisioned when we had a family, but as we had to learn, you are forced to accept your life will never be the same. You try your hardest not to look back and instead, try your very best to make every day count. The happiness of our children is all that matters. We can’t control the disease, but we control how we respond.” As a general rule, Batten families do not look too far into the future. Rather, they make each day count. Some deal with the challenges by pouring themselves into working as advocates for the community that they are a part of. Gail puts it like this, “We live each day with hope in our hearts and we will never stop doing everything we can to find a cure for this horrendous disease.” The Riches feel like it is a waste of energy to worry about what might happen. They stay focused and handle things in the most practical way that they can.
It all began as a simple outing in a public place that brought two people together. They had likes and interests in common and they fell in love. Finding a life together, they both loved the idea of having children and being a family. Wow! It is sometimes staggering to think about how quickly our lives can change. A chain of events can be set off by a single occurrence and then, we are changed forever. Gail had found her place. Being a mam to three beautiful children had brought her more fulfillment than anything else in life could. There was much that they would look forward to but more would come their way than Matthew and Gail could have ever expected. The love that they have for these three children is stronger than words can describe. Again, Gail does an able job of sharing her feelings with us with the following, “My gorgeous girls, my world….along with their big brother. One of my favourite sayings is ‘the most precious jewels you can have around your neck are the arms of your children’, and this is so true. I cherish every day, every smile, every cuddle, every bedtime, every single part of being a mother is a blessing. Hearing the words ‘Love you Mammy’ is the best thing in the world.” Even though Nicole has never been able to say those words, you can just see the love that she has for her family in her eyes. I can see it too, even from such a great distance away. She is just so beautiful.
The Riches are grateful for every day that they are given with these three beautiful little souls. Watching the bond that exists between the three of them brings so much joy and strength for another day. There is nothing that this couple will not do for their children and they will be there for them, every step of the way. One moment at a time, taking each day as it comes their way. Life for all of us is so short and we can't waste time worrying about what we cannot change. Undying love and a bond that cannot be broken. There I go again. These kids do change people. I know that telling these stories has changed me. There is sadness along the way. There are difficulties and very trying circumstances associated with having children that battle a rare disease like Batten. It would be so easy to make that the entire focus of these stories, however doing so would not paint a complete picture. Beautiful are the details that reveal the depth of feeling that surrounds these children. The depth of love that exists between the kids that battle Batten and those that care for them is something that is beautiful. The life of both Nicole and Jessica is a beautiful story. This is because both of their lives embody all of the beautiful details that we have talked about.
Life is not what Matthew and Gail expected that it would be. They, along with their children, are on a journey that they once were unaware of. The circumstances that they find themselves in has, in part, changed who they are as people and the direction that they are going in. Never, could they have thought about being rare disease advocates. In all likelihood, the thought had never entered their minds. Who knows what number of people they will affect by sharing the details of their journey. How will their lives be affected by being involved in the lives of others? Life is a lot better when you look beyond yourself and try to have a positive impact on other people. The Rich family is doing exactly that, even in the midst of some very trying circumstances. I am thankful for the researchers that have brought about the treatment that Nicole and Jessica receive. It is making lives better, one family at a time but we do need a cure so badly. For the families, that can’t come soon enough. Speaking of families, this is a very special one in yet, another special place. I am grateful for every opportunity I am given to be involved in a community that I care deeply about. Thanks for taking the time to read this story. Thanks Gail for helping me to tell it. All my best to you, Matthew, and those three very special children of yours!
Blogger and Advocate
“Life ended as we know it that moment. Our wonderfully happy, strong, and independent girl had a fatal disease. I'm not sure how long we sat there or how many questions we asked... that part is a blur. I just know we left the office with the news that Haley was dying and there wasn't anything the medical community could do to save her.”
Haley’s Mom and Advocate
I do tend to repeat myself frequently as I write these stories. Phrases like “a love that is profound and undying” come to mind with each story that I write. I’ve used the phrase over and over now because it just seems to fit so well with the stories that concern kids that battle Batten. Certainly, it is true that most any parent would do whatever it takes to help one of their children when they become ill. However, parents who have children that battle a rare disease will go through more than most. There will be more appointments and more demands. Especially if the disease is one for which there is no cure and the disease progresses as it takes its course. Feelings will be felt that are not experienced by many. This all happens after the news is received and the initial process of grieving begins. The actions taken on behalf of the children and the sweet details of love that is felt for these kids are the object of my attention. And then, there is the resilient nature of the kids themselves. The way that they take life’s difficulties in stride. This as they experience the changes that take place within themselves physically. These young warriors find a reason to smile on the most difficult of days and they bounce back from the challenges that come their way. This, for as long as they can do so. They are able to teach us much about the things that are important. We tend to worry about the little things that occur in life and we sometimes need to be reminded not to. This by those who face major challenges. I think that we all have different ideas of what is important in life.
Knowing a child that battles a rare disease may cause us to consider what our priorities should be. Perhaps, we shouldn’t “sweat the small stuff”. Greater Awareness was not my first thought when I started to write about families that battle Batten alongside their children. One thing just led to another and the months have now turned into years. I first had to be made aware of the children that battle rare diseases and that happened through learning about the plight of one little girl who battled Batten disease. Everything has come out of the opportunity to meet her and the opportunity to follow her journey. The love that I had for my youngest son who has special needs, had lent itself to a love which would be developed for kids in that battle. Looking through the details of what is faced plus meeting these families online and in person has only served to strengthen my desire to continue. These kids are so very special. You only have to give a small piece of your heart to them and they will come close to taking every bit of it. This is absolutely true. I am definitely no expert in the area of medical science but it has been fascinating to learn a little bit about how the human body functions at a cellular level. I have also learned a little bit about what takes place when the cells that make up the human body do not function the way that they should. Looking beyond the science to look at how lives are affected by the failure of the cells to perform their function normally ... These are children that we are talking about.
People’s lives are impacted by the circumstances in which they find themselves when this happens. It’s knowing the plight of these kids that makes our hearts ache. Especially when we look at their faces and we look into their eyes. You may know what I am talking about. A person can be moved by these stories. I have been told that there are some 7,000 rare diseases that affect children. Many are fatal. How do we possibly draw attention to all of them? It can only be done by the efforts of many as they do what they are able. Sadly, there is much that is not being done. The majority of those that make up the number of rare disease advocates are the parents of these kids themselves. That is for good reason. For them, this is personal. These are their children that we are talking about. To me, any person that stands alongside these kids as they battle are special individuals. Many have been through the process. Many are in the middle of it. I am talking about the process of going from a state of shock as the diagnosis is received to a condition of grief and despair. Both of these remain but the individual pushes through the feelings that can’t be denied. This is in order to do their very best for their own child, or one who is under their care. Most all will do whatever they are able to do. Some are able to do more than provide basic care. Some will become champions for the community that they find themselves being a part of. This may come as a result of being able to spread massive amounts of awareness concerning the disease that their child is affected by.
Being an advocate for a child with a rare disease often makes ordinary people do things that are extraordinary. This happens no matter what the level of help they are able to give to their particular rare disease community. Some are able to do more. Some are equipped to help in a bigger way. This is where nonprofit organizations come from. Some of these people have a larger impact in advocating towards a cure for the disease that they are fighting against. I am inspired to love my son with special needs more fully as I look at the actions of those who care for kids that battle. Out of the community of those who care for kids that battle Batten will come those who inspire others by their actions. There are a few different names that come to mind and every opportunity given to talk about these people is greatly appreciated. Thanks for staying with me as I work my way towards that end. I remember attending my first Batten conference in Nashville, Tennessee and the very first night of being there. I ran into a young couple at the meet and greet that BDSRA has at the beginning of the conference and we struck up a short conversation. I soon realized that Dean and Melissa Pollman were from the same area within the state of Oregon that I was from. There we were together in Nashville and that is where I learned that their daughter Haley had begun her battle with CLN1 Batten disease. Melissa asked about where my interest in kids that battle Batten had originated from and I explained.
Anyone that has been to one of these conferences knows that they are crazy busy and that they can be a little overwhelming. My time with the Pollmans was brief but they definitely caught my attention with my being from the town that neighbors theirs. The conference was seemingly over in a blink of the eye and we all returned home. In addition to learning more about their daughter Haley, I also would soon learn that the Pollmans had started a nonprofit named Haley’s Heroes. Through the nonprofit they were raising an impressive amount of money for research towards a cure for CLN1. One of the means by which they raised money is through charitable events of all types. I had thought about attending one but had put it off for sometime. I suppose it was because of all the busyness of life. The time would come in which I would decide to bring myself and my two tagalongs to one of the events and I am glad that we went. I had a chance to meet Haley and her older brother Cole and also check out a Haley’s heroes event. I bet Haley was wondering who the old guy was that was staring at her until the time in which her mom introduced me to Haley. Up to that time, she had been running here and there with her friends. It was too cute because she looked at me when we were introduced and then looked back at her friends. She was quickly, off and running with the pack again. I was in no way offended by this, thinking that Haley was just busy being a kid. To me, she hadn’t even looked like a child that was affected by Batten. Haley is yet another beautiful little person that battles and that battle has continued since the time that I attended that event.
A Road Traveled Together
I guess I assumed that the Pollmans were too busy with life and their own work to consider working with me in telling their story. I found out that I was very wrong when I approached Melissa. She was more than willing to work with me and this is another opportunity that I am honored to have. So here it is. I hope that I can, as one might say, “do the story justice”. Like it is with a lot of stories that I’ve done, this one starts with two people that meet and fall in love. In this case though, it took a little while. Melissa Loring grew up in Salem, Oregon and like all of us, her life was a story in the making. It would take this part of her story a while to get started but it would all begin to take shape in 1984 as she reached the 7th grade. That is where she would meet her lifelong friend, Jennifer Pollman. Just like it is with most young girls who become best friends, Melissa and Jennifer would spend countless hours together. Much of that time would be spent at Jennifer’s house with her family. Among those that were members of the Pollman family was Jennifer’s younger brother Dean. At that time, Dean seemed like just an annoyance to Melissa. I mean, what else would you expect at that age and time in a girl’s life? She had no idea at that time that Dean would one day become more to her than Jennifer’s little brother. Much more. Each of their lives would head in different directions, but unknown to both of them at that time, their futures would include each other.
All of the usual things would take place for the two of them. That would include high school graduations and the achievement of career goals. Melissa had a desire to work in the business world and would one day in the future receive her Master’s degree in Business Administration. Melissa would be married for the first time and she would give birth to a beautiful little girl named Audrey. Her marriage however, would not last and it would wind up being an abusive situation for her. Melissa’s struggle would include working to keep her daughter in a safe situation and that no doubt, would provide a great deal of stress. In the process, Melissa’s strength of character was growing. As well, Dean’s life continued on but as Melissa put it to me, they both “battled demons”. They each had to grow as individuals before the time that they would be able to come together. Looking back on things, much of what happened for them separately had a part in bringing them together. Like Melissa, Dean had parented a little girl. She was beautiful and would be given the name Madison. Having Madison in his life, caused Dean to realize that his position was of great importance and the experience would cause him to grow as an individual. Seventeen years would pass from the time that they would meet as kids and after much had taken place, Dean and Melissa would fall in love. Melissa stated that they would still not come together until a little more than three years had passed. They however, stayed in touch during that time until the day that their separate journeys would become one traveled together.
Melissa would tell me that the song by the group Rascal Flatts, titled “Bless the Broken Road”, describes hers and Dean’s journey to find one another. I have to say that I did what any good writer would do after reading this. I went and searched for the lyrics and watched a video of the song being performed live. I have to admit that doing so caused me to get a little work up. This, as I realized that the song matched their story perfectly (perhaps minus the acoustic guitar, piano, and screaming girls on the side of the stage). So it was in 2005 that Dean and Melissa’s “broken roads” came together. They became engaged to be married. Dean and Melissa would become man and wife in March of 2006. Whatever the road that they traveled brought their way, they would now handle it together. The newly married couple, all at once, became a family of four. Dean would even adopt Audrey legally soon after. As Melissa would put it to me, “She (Audrey) is his and Maddie is mine.” They wouldn’t stop there, nor would they wait to have more children. Melissa would soon give birth to a baby boy. Dean loved both of his daughters but he now had a son who they named Cole. He was born on March the 11th, in 2007. It wasn’t quite time to quit increasing the size of their family as Cole came along. Dean and Melissa wanted another and this soon would take place. Just as was the case in times passed, Melissa would conceive and carry her baby without a major incident taking place.
The time would arrive in which Dean and Melissa would welcome their fourth child into the world and she was someone that would be very special. That’s right! Melissa would give birth to their third daughter. The guys in the family were now outnumbered but they wouldn’t mind one bit. Everyone welcomed Haley June Ruth Pollman into their family and they were now a family of six. That number seemed perfect to them! The day was August the 23rd, of 2009 that baby Haley was delivered. This would take place at Salem Hospital, named after the city she was born in, Salem, Oregon. Haley was perfect and she was a perfectly beautiful baby girl. She came to the Pollmans weighing in at 6 pounds and 11 ounces and to Melissa, the experience of holding Haley for the first time was “magical”. At this point in time, everything seemed so perfect and who could argue that it was not? The Pollmans were a blended family but they would have to tell you that in order for you to know it. Regardless of the difference in ages with the siblings, they would draw very close to one another. They were just three sisters and a brother. Dean and Melissa were parents to four wonderful children. All four were loved and everyone loved being together. Haley was the baby and she was a girl. That should be a position of honor, times two, in any family. Heaven help you if you were to bring Dean’s baby girl home late from date night, or mess with Cole’s little sister. Haley was always to be the baby of this family but don’t let me jump too far ahead.
Just like it would be with the rest of us, there was no way that the Dean and Melissa could see what the future held for them. There was no way that they could know the special circumstances that would surround Haley or, how all of their lives would be impacted by this beautiful little girl. They only knew that they had someone special in their midst. There was another reason, in the immediate, why Haley would be viewed as an extra special addition to the family. Unlike it was with Cole, the Pollmans had sought to find out the gender of their fourth child prior to the delivery. You see, Dean’s sister Jennifer and Melissa had both been pregnant at the time when Melissa had been carrying Cole. They both were excited to be pregnant together. The babies would be born three months apart and Jennifer had given birth to a little girl. She named her newborn daughter Lola Jolie. The very sad part is that Jennifer would lose her daughter to Sudden Infant Death Syndrome (SIDS). This would take place in September of 2007. You can only imagine that Jennifer and those who are close to her were devastated by this. That is why Dean and Melissa felt that they needed to find out the gender of their fourth child. They would actually call Jennifer from the ultrasound to tell her that Melissa’s baby was a girl. Jennifer would be the first person to know! This is one reason why, until this very day, Jennifer and Haley have a very special relationship. Melissa further explains, “Haley, in a way, helped heal Jennifer's heart. I believe with all that I am that Lola is Haley's guardian angel.” This is, no doubt, a very close knit family.
The Complete Lifestyle
Everything had come together for Dean and Melissa. They had found love for a lifetime and had formed a family together. Things were seemingly perfect. Melissa was able to stop working outside the home as the Pollmans grew businesses of their own. Dean and Melissa would grow in the business world to the point that they would own a construction company, a storage company, and two manufactured home parks. They had found success by anyone’s measure. The kids were healthy and thriving and things were as they should be. The Pollmans had built a firm foundation within the Willamette Valley here in Oregon. They had both grown up in Salem, gaining many friendships over the years. This was in addition to having extended family in the area. There would also be many new acquaintances that would come through their business ventures. They had no idea at the time but all these people put together would become a network of support for a major challenge that was yet, not seen. Life was busy but life was just the way that this family had hoped that it would be. The Pollmans would work hard in order to have the life that they wanted and that included lots of opportunity to make memories together. There were fun times and time spent together on the weekends. Everybody loved little Haley. She was the youngest and so full of energy. She did and said the cutest things, just as you would expect.
According to Melissa, Haley was super independent and very active from the start. She was quick to walk and to start talking. Haley loved to climb. Melissa would find little Haley at the top of heights that showed she had no fear. Climbing to the top of appliances was not an issue for her. No matter how high up they were. Melissa explains, “My washer and dryer sit on storage drawers so the tops are about 5 feet up in the air. One day I walked into my laundry room and Haley was sitting on top of the washing machine singing and playing.” Kids are the picture of innocence and that is one of the reasons that we so enjoy being around them. Their inquisitive little minds and the joy that they have for living is a cause for joy in our own lives. You know, we rarely mind answering all of those innocent questions that are asked as their minds soak up new information. This is part of what we were put on this planet to do! Speaking about singing, Melissa said that Haley “lived life with a song”. As soon as Haley started to talk, she also started to sing and I just bet that she sounded sweet with each song that she sang. Haley loves music and she makes her own songs. In the back of each parents mind is the question, what can I expect from this child as he or she continues to grow? What might they be one day? Whatever the case might be for Haley, she had gotten off to a great start. She had met or exceeded all of her early milestones and she even started school early. Haley was ready for school!
Every parent can expect issues to come along as their children grow and develop. We handle things as they come to us. It is just part of parenting children. Learning disabilities or medical issues can show themselves but most often, the things that come along can be dealt with. There is usually a resolution to problems that kids face as they are growing. Sometimes, there are bigger challenges but even those are challenges that can be resolved. Haley’s growth and development would continue and she would remain right on track.This, as she reached the first grade. Everything looked to be going great with her. It was now June of 2016 and Haley was reading and writing by the end of the school year. As summer arrived, something began to change with Haley. Her parents noticed that she was beginning to sit closer to the television set and this was an indication to them that something wasn’t right with her eyesight. On top of the of what was being noticed as she watched TV was also the fact that she wasn’t seeing as well at night. As the new school year began, Haley’s teacher started to see a change in Haley as well. Haley was beginning to have an issue with her reading and writing. She had regressed in her abilities in this area. The obvious conclusion was that Haley needed glasses. Her poor vision had to be the cause of these issues.
It makes perfect sense that Dean and Melissa would start their search for answers by taking Haley to an eye doctor. Everyone had to be hopeful that helping Haley was as simple as finding the right prescription for corrective lenses. There is no way that anyone could expect there to be a problem with anything beyond her eyesight at this point. Haley would get fitted for glasses but that would not seem to help as her vision would only continue to get worse. Melissa said that they would be in and out of various eye doctors offices for about twelve months. This had to be very frustrating and even more so as one doctor even claimed that Haley was just acting out in order to gain attention. What an outrageous comment for any medical professional to make. Melissa stated that Dean knew better. He knew that this was just not true and he would tell the doctor that she was wrong. He had been watching Haley when she wasn’t paying attention and it was obvious that something was not right with Haley’s vision. Dean’s insistence that there was more going on with Haley would pay off as this doctor would listen and then refer them to the Casey Eye Institute at the Oregon Health and Science University (OHSU). OHSU in Portland is a very fine medical facility and it would be there that the Pollman’s would meet Dr. Mark Pennisi. The doctor would end up ordering an entire battery of tests and like a champion, Haley would endure all that came her way. There have been so many stories that have been written of families having to endure a long search for answers.
Many times, the search will include visits to various doctors and the family will receive incorrect diagnoses’ in route to finding the truth. Generally, the diagnosis gets worse with time. Things have seemed to have gotten better as people in the medical profession have become more aware. Regardless of the length of time it takes, there is no way that one can be prepared for the eventual outcome when the diagnosis is Batten disease. One of the tests that Haley would undergo is called Electroretinography (or an ERG). The test measures the electrical response of light-sensitive cells in a person’s eyes. These cells are known as rods and cones. Something like Cone-rod Dystrophy could have been the suspected culprit in Haley’s case but there was more to this diagnosis. The knowledge possessed by Dr. Pennisi in combination with the results of the ERG and other testing brought the doctor to a conclusion. It would be in the Fall of 2017 that the Pollmans would receive the worst possible news that any person could concerning their child. Here it is in Melissa’s own words, “That day is burned into my brain. Dean and I were huddled in a small dark exam room at Kasey. In walks Dr. Pennisi and several other doctors in training. It was white lab coat overload. Dr. Pennisi did not mince words. He said "It's not good. Based on my experience, Haley's rapid sight loss, and her test results ... I believe Haley has Batten disease. Batten disease is a rare disease that gets progressively worse over time. There are not cures and it is fatal"’
More Than Expected
No doubt, the Pollmans were completely shocked by the severity of the news that they were given. Based on Haley’s age, the doctor had initially felt that she had CLN3, Juvenile Batten disease. However, a genetic panel would be ordered for gaining a verified diagnosis. Bloodwork would be drawn and the testing would be performed which would soon reveal that Haley had CLN1 Batten disease. She never cried, not even once during all of the testing. She never complained. Life, as Dean and Melissa had known it, had ended at the moment that they received the news concerning the Batten diagnosis. This little girl was that special person to everyone in her family. She was Dean and Melissa’s youngest child and the little sister to all of her siblings. She was the one that was always singing a song because she was so full of life. She meant so much to so many. The Pollmans now knew that they were on a journey with Haley. They would leave the doctor’s office feeling that there was no hope. There was nothing that the medical community could do for Haley. It was difficult for them to know at that time but Dean and Melissa had been spared a long road to a diagnosis for Haley. This was due to the training and experience of Dr. Pennisi and the fact that they had been referred to him for Haley to be seen. It was about a year from the time that Dean and Melissa had first started noticing symptoms until she was diagnosed.
There is never a good time to receive the news that your child has something like Batten disease. However, I would think that knowing the truth allows you to process the information and take whatever action is available sooner. The Pollmans would take action but there were some things that they had to take care of in the immediate. An important and very difficult thing to do was to break the news to Audrey, Maddie, and Cole. How do you break this kind of news to kids? This has to be a most difficult thing to do but it is something that has to be done. Kids are internet savvy these days and answering their questions is the right thing to do. Melissa described the experience of having to break the news to Haley’s siblings in this way, “Watching them crushed under the weight of the news was heart wrenching. We encourage them to ask us questions. We are committed to answering them honestly no matter how hard.” Melissa admitted that it would be so easy to focus solely on Haley and their own pain but they are both intelligent people. They know that checking on each of Haley’s siblings is important. They do not want Audrey, Maddie, and Cole to become “invisible children.” Furthermore, they want them to develop as individuals. All of them developing in lives that are separate from Batten disease. Those of us that follow the Pollmans on social media can see that they do a great job of balancing everything that life has brought their way.
They have to balance Haley’s needs and their fight against Batten disease with the rest of family life and their business ventures. All of this is part of the whole and all of it requires their attention. The Pollmans quickly grew to be a close knit family and this was fostered by doing lots of activities together. Work has always had as a purpose, the ability to do fun and fulfilling activities together as a family during hours away from work. Batten disease would not take this away from them. With Batten, the grief is ever present and the awareness that life is not guaranteed is in the forefront of a person’s thinking. Living in the present time becomes even more important and enjoying what you have now is something to focus on. Enjoy every moment! I think that Dean and Melissa have done a good thing to have each person get involved with a counselor. This, in order to discuss their grief with someone that is qualified to listen. While this could be seen as a sign of weakness to some, it is really a show of commitment to being as healthy of a family as is possible. It really just helps to talk things through sometimes. The kids do counseling and Dean and Melissa also do couples counseling. Melissa explains the need for this, “Grief is so individual and personal. In order to lead our family through this and not allow Batten disease to steal everything from us, Dean and I realized it starts with our bond. Counseling has helped us extend grace to each other and our children.”
Melissa does feel that Batten disease is responsible for causing personal growth to occur in her. This does make sense although this writer would think that there was already a great deal of strength of character there. Melissa believes that because of Batten, she doesn’t sweat the small stuff as much as she once did. As a family, they don’t completely know what the future holds. This lady, who by nature is a planner, says that she tries to not look too far ahead. This is not to say that the Pollmans are not people of action. They truly are that. Like several other families in the Batten community have done, the Pollmans created a nonprofit foundation in hopes of creating change. They wanted to do everything that they can to help find a cure for Haley and the others that battle CLN1 Batten disease. With the advent of therapies like Gene Replacement comes hope towards a cure. Researchers have created a reason for hope and optimism and helping to fund this is of the greatest importance. This is why Dean and Melissa Pollman formed the nonprofit foundation which they would name Haley’s Heroes. The network of support that they needed would, in large part, already be in place. The people that I had written about earlier, who were already acquaintances or friends and family, became Haley’s Heroes. There are a lot of people that love this little girl and at the same time, admire her parents!
What the Pollmans have already accomplished through Haley’s Heroes has been of the greatest importance. Research leads to treatments and a cure. There is no other way. It all begins with raising the funds that are needed for researchers to do their work. It is also important that the funds are given to worthwhile projects. Through Haley’s heroes, the Pollmans have been able to fund several research grants. Important research, like that which is done using sheep, has already taken place because of the contributions made by Haley’s Heroes. As I have continued to write and have branched out a bit to other rare disease communities, I have found that gene replacement has become a reality for them. Those who follow kids that battle Batten know that Gene Replacement Therapy has also become a reality for some of the kids that battle CLN6 Batten disease. There is room for optimism. However, for the parents of kids that currently battle CLN1, and other variants of Batten, new therapies cannot come soon enough. For them, it is personal! Dean and Melissa understand this in a big way and they are giving this effort their very best. Melissa makes comment on their continued goal for Haley and what has already taken place, “Although none of the research we have funded will immediately result in therapies it is critical to shaping future therapies. Our goal is still to fund a cure or therapy to save Haley and children like her.”
The Pollmans understand that the work that they are doing may not bring about the therapy that is needed right now for Haley. Many might just step back, believing the situation to be hopeless. That is not the approach that this couple is taking. Melissa explains, “It hasn't stopped our resolve! It hasn't hampered our hope. We will continue to fight Batten disease for Haley, because of Haley, and in honor of Haley. In a phrase, she is worth it.” Whereas the Pollmans had sought a normal type of lifestyle through hard work and family involvement, life has taken on a new dimension. Yes, Dean and Melissa are parents to four special kids. They have been successful in their business ventures. Now, however, they are rare disease advocates and more specifically, advocates for kids that battle CLN1 Batten. They are working hard for Haley and all the others that battle like she does. Melissa explains in part, the vision that they have for Haley’s Heroes with this, “My vision for the Haley's Heroes Foundation is to unite the CLN1 community and unite the Batten community as a whole. We are stronger together. I want people to know about Batten disease. I want more rare disease awareness. Knowledge leads to change. Change leads to lives saved.” There are a number of families that come to mind when I look at the Pollmans. I think about how Dean and Melissa’s pursuits in life have, in large part, been redirected. Yes, there are more memories to be made as a family and there is more fun to be had.
There are all of the normal kinds of things to be done together as a family but there is also this mission. A clinical trial could come at anytime now and that is what we hope and pray for. Whatever the case may be, the Pollmans have a vision for Haley’s Heroes. They will continue to work towards the things that they want to achieve for the CLN1 community and kids that battle Batten as a whole. They are looking to expand the work of the foundation while Melissa also gives Haley and the rest of the family her very best. She explains how she plans to do this, “I can not do it alone. We need support. We decided to grow the foundation and plan to hire a donor relations manager who can work full time to execute the vision and mission.” Something tells me that this couple will continue to give this cause their all while also maintaining a firm foundation for their children. Just like many of the other couples who have battled alongside their children, the Pollmans have become very well connected to the rest of the Batten community. Melissa has caught the attention of many of the other Batten moms, and mums in the UK, one of which is my friend Gail Rich. She, of course, has two beautiful girls that battle CLN2 Batten. Gail had many great things to say about Melissa and I will share a little bit of that with you here, “Melissa is a very inspiring person, from the focus and importance of family life to how Melissa connects with Batten families who are going through similar struggles. Optimistic, encouraging and supportive ... Melissa has always been so kind. This, in messages in response to posts and events we have shared to help raise awareness of Batten disease.”
So many people have now viewed the TED talk that Melissa presented to an audience not that long ago. TED is simply a nonprofit whose goal is to facilitate the spread of new ideas. It has gone from having the convergence of technology, entertainment, and design as its root to hosting talks about all types of issues. This forum gave Melissa an opportunity to tell many about their battle with Batten while inspiring people to think outside themselves for the good of others. She did a magnificent job during her TED talk and she has inspired a lot of people through it. Again, one of those people is my friend Gail Rich and I will share here what she had to say about it, “I was once directed to Melissa’s ‘Ted Talk’. I had no idea what a ‘Ted Talk’ was, but I researched and then watched Melissa talk. I connected so much when Melissa talked about life before Batten disease and then, how they received the news of Haley’s diagnosis. It was not only interesting to find out more about Melissa and her family but it was very inspiring to listen to. This, in how they took the news of their beautiful daughter Haley and applied a practical approach to searching for answers ... making a difference to the BD community through Haley’s Heroes.” Melissa has inspired many through her actions and this includes her TED talk which was very inspiring. I know that any person whose life has been changed by something like Batten disease will never be the same. It’s just a fact that going through something like helping your child fight a rare disease changes a person. Many families will continue to stay involved until the day that there is a cure.
The Pollmans fit into this group because they are committed to helping their daughter and other kids who battle CLN1. And still, they would rather just have their daughter to be healthy and whole. They would rather trade any pats on the back that they might receive because of the contribution they are making for Haley’s to have good health. This is a family that is in a battle with Batten disease and they just want their daughter to have a chance at life. Haley is one very special and brave young lady. The Pollmans have always been a very active family. There are all the usual types of things going on. There are school sports and activities taking place. Family get togethers and special events happen frequently. Snow and water skiing and fishing and hunting trips and you name it. They do things together and that all increases the strength of bond that they have with one another. Haley has always been a part of that and the family has not let Batten get in the way of them doing these activities together. They have watched Haley decline over the last three years with the last seven months being the worst. Melissa feels that the restrictions related to COVID-19 have been a big contributor. Haley has been home-bound much of the time that she would have otherwise been attending school. Regression has taken place in Haley. There have been struggles and disappointments that have come with the regression and advancement of the disease.
Living to the Fullest
Just like it was with her siblings, Haley was being taught to do all of the fun things that the family enjoys doing together. One of those was wakeboarding. Haley loved it but sadly, she was unable to wake board this summer. This is because of the progression of Batten disease. One of the things that is so amazing about these kids is the resilient spirit that they display through their actions and attitudes. They show disappointment when they are unable to do the things that they once could but they almost always bounce back. That is what resiliency is. I’ll let Melissa speak for herself as she describes with her own words what happened on a day in June of this year, “This June was the first time she was unable to get up wakeboarding. That was hard to watch because she was sad and frustrated. Hearing her cry ‘I couldn't do it’ broke our hearts. Haley is one of the most positive and sweet people I've met. True to her personality, she didn't let it upset her for too long. About 10 mins after she cried about not being able to wake board she looked at me and said ‘Mom I did it! I wakeboarded’. Yes, sweet Haley you did. She continued to try the following days. That is Haley to a T! She is fearless and tenacious. She doesn't let failure keep her down. She remains positive.” Melissa shared that Haley is not unaware of her disease. She stated that Haley once told them that “her brain is fuzzy”. Haley knows that she has Batten and has asked if it will take her life. Is there anything that would be more difficult to talk about with your child? Melissa said that Dean and herself both believe in being “age appropriate honest”.
Haley has to be one strong little lady. I think that is apparent. To have limitations that once weren’t there and to have knowledge concerning the fact that she has crippling disease. All the while, she deals with it in strength, modeling the resilient attitude that we have talked about. I repeat myself a lot because prevailing thoughts come to mind frequently. These kids are amazing. They always find a reason to be happy, bouncing back from the disappointments that come as the disease progresses. For instance, I don’t know how I personally would deal with losing my eyesight. I hope that I will never have to find that out for myself. However, if I do, I hope that I can deal with it in the way that these kids do. The way that they model the ability to bounce back after that kind of a loss is profound. These are children that we are talking about. Melissa says that she and Dean take direction from Haley. They encourage her to try new things and to stay active. Things that are noticeable are dementia and short term memory loss. Those are the kinds of things that should only happen to the aging. This, in itself, would be heartbreaking but Haley also hallucinates. Melissa gave me an example to share, “She hallucinates about a spider/butterfly named Hannah. Hannah causes her grief so we as a family always tell Hannah to "go away". Sometimes we feed Hannah to our dogs. Haley thinks that's hilarious!” Perhaps kids that battle aren’t the only ones that are resilient in a Batten family home.
Those that care for kids that battle batten have my deepest respect and admiration. I know the parents are just doing what needs to be done but what is required is much more than what most of us will ever see. It is a good thing that the Pollmans have done with their business ventures because it allows Melissa to be home for Haley. This, because Haley is needing increased assistance with everything as time continues. I am certain that as the level of care for Haley increases that the bond between her and Melissa (and family) has increased as well. A love that is profound and undying. Sleep has become an issue for Haley and she also experiences night terrors. These kinds of things are hard to write about but they are part of what a Batten warrior like Haley experiences. Melissa often lays down with Haley in order to help her settle at bedtime. She is not as independent as she once was. Haley needs Melissa’s help with her daily activities but she is worth every bit of extra effort that it takes. Dean often steps in when he gets home at night, just like a great father would. The Pollman’s extended family is very involved in their efforts and they step in to help whenever possible.
Melissa said that Haley has several therapies that she goes to and members of their extended family often take Haley to those. She is so worth the time and added effort. Haley is another one to melt your heart, just as these kids usually are. The term comes to mind frequently. Haley loves riding horses through an organization named Horses for Hope. Her Aunt Jen takes her to this particular therapy and they really enjoy that time together. Every bit of time that Haley and Jennifer get together is time that is enjoyed. Jennifer shared with me that next to her husband, Haley is her most favorite person to spend time with. This even though Jennifer loves all of her nieces and nephews. As we talked about earlier, Haley came into Jennifer’s life as a newborn at a time that she really needed her to. During the time frame that she had lost her infant daughter to SIDS. As Haley made her entrance into Jennifer’s life, the bond was instantaneous and it has remained strong. Do you think Haley was an angel that was sent to Jennifer? As it turns out, they both share a zany type of personality and both of them love to pull innocent pranks on family members. Jennifer shared a few things about her love for Haley and here is some of it in her own words, “Everything about Haley brought, and still does, bring me joy. She doesn't say much anymore but she likes to sneak up on people like a little ninja with her cute grin. The family gives me a hard time because Haley can do no wrong in my eyes …. and it's true.”
Everything that you could imagine, Jennifer and Haley love doing together. From something like a simple trip to the grocery store to snow skiing together. Haley always had a cause to sing a song when she was around her Aunt Jen. Haley would take every opportunity to make the most out of life and that still stands true. Haley cares deeply about people and she still shows it in ways in which words are not needed. You can only imagine what watching Haley’s plight unfold is like. In finishing one comment to me, Jennifer stated, “My heart is so broken.” Somehow, I am unable to respond to this, using words that are adequate. For Melissa’s part, she just wanted to be a mom and to find success in all of the facets of life. Parenting, work, and enjoying time with family. Now, however, both she and Dean have found themselves in a battle for their daughter. This one is called by her family, their “Haley Bug”. Sometimes her pet name is shortened to just “Bug”. It just seems so unfair that her life would be slipping away from all who love her. Haley truly does battle Batten and she is giving this a very valiant effort. Melissa says that Haley still interacts with friends that she has had since preschool. She will leave an impression on all who meet her. I know that she did on me, even during such a brief encounter. Then again, I love kids that battle Batten. There are two companies that had potential for beginning a clinical trial involving gene therapy. One is a company named Abeona and the other is Amicus. Abeona has since, sold their gene therapy platform. It was purchased by a company named Taysha Gene Therapies.
Hoping for Hope
It would be our hope that one of these companies would come through soon for kids that battle CLN1. Melissa is praying that they will soon open up the trial and also that Haley will remain a candidate. I’m praying for the same thing. Melissa has been in contact with Amicus and they are helping her to feel hopeful. She feels that they have a great team of researchers but whatever the case may be, the trial could not come soon enough. We so need this for Haley and the others that battle with CLN1 Batten. Melissa stated that it is imperative that the clinical trial move forward so that those involved can learn from it. There is no doubt that once a parent is given a diagnosis like Batten for one of their children, they will never be the same. These kids change us, in one way or another. They change people’s perspective and way of thinking. They teach us the things that are important in life as the trivial matters in our existence fade away. Haley is a very special young lady and knowing what she is going through is heart wrenching. Nobody knows the experience of being close to one that battles like the parents themselves. Especially when we are talking about a mom. Melissa shares a little bit about the changes that have taken places with her personally, “I hate Batten disease. I wish I had never heard of such a disease but I do think I'm a better person for it. I'm more patient. I extend grace more often. I take more time to slow down. I hope it's made me a better parent. Weirdly, I think it's helped me during this pandemic. We do our best to keep our family safe while balancing living.”
It may sound as if I have written much of this story in a matter of fact kind of manner. I don’t mean to give you the impression that I am thinking in those terms. This is such a difficult thing for any family to go through together. Although I have not spent a lot of time around Haley personally, I did have the opportunity to meet her and I know how much she means to her family. Remember, this is the baby in the family and everybody’s baby girl has Batten disease. She is her family’s Haley Bug! These stories are beautiful because of the details concerning the love that exists between kids that battle Batten and those that care for them. It is a kind love that to me is like none other. The depth of feeling that is felt for someone like Haley is obvious. She is so innocent and yet she is going through something that just tears us apart inside. Haley is a beautiful young girl. Her life will affect the lives of her family members like no one elses possible could (It already has in a big way). More kindness and more affection will no doubt be poured out. Along with the broken hearted state that exists is every sweet memory that is being formed. There is hope, and Haley continues to battle, but we do need a cure and it can’t come soon enough. How will the work that is being done by Haley’s Heroes affect the rest of the CLN1 Batten community? I agree with Jennifer Palermo who is a mom to a darling little girl named Amelia. Amelia is another little warrior who battles CLN1 Batten. Jennifer stated that Melissa is a fierce advocate for Haley. She is aware of the fact that the work that is being done by Haley’s Heroes is helping to bring about progress. Every amount of effort that is put forth is part of the solution.
I have now heard several different Batten parents state that they do not look too far ahead. They take life as it comes to them, trying to live for that day, taking each day one moment at a time. This makes sense because I think that looking too far down the road brings about worry concerning things that you cannot control. I think that the Pollmans have the right philosophy concerning how you go about handling something like what they are facing. They are giving this battle everything that they have while maintaining a home life that is very family orientated. With the following, Melissa shares a little bit concerning their approach to their situation, “We have lived for the past three years with the unknown and will continue to do so. We have no idea what tomorrow holds for our family. For this reason, we have chosen to not live in fear but to live to the fullest. Don't get me wrong, we aren't taking unnecessary risks but we aren't putting our lives on hold either.” Melissa made the statement that “loving Haley is easy.” This writer believes you Melissa. I absolutely do! Melissa explains a little further as to why Haley is so special and so loved by her family, “She is sensitive to others feelings. She is sweet natured and full of life. She is fearless. She LOVES big, especially her sisters and her brother. Haley is a jokester. She has a great sense of humor ... There is nothing better than being with my family. Watching our four kids interact and how they love each other fills my heart. The love I feel for Haley and all my children is more than I can put into words.” And yet, there is one that battles and that one is a princess, affectionately known as the Haley Bug. Keep fighting Haley. That’s a pretty special you have there! Thanks for taking the time,
Blogger and Advocate
“We’ve decided that, rather than spending the rest of the time we have with him being sad, we’re going to enjoy our time with him and his siblings as much as we can. We’re going on adventures, spending more time playing together, snuggling more…doing the things we have always done but with less wasted time.”
Kiernan’s Mom and Advocate
I hope that my readers do not mind me drawing from my experience of being a father to someone who has special needs. That is from the things experienced by being Benjamin’s father. Some things we can draw from to create comparisons. That being with the things that we share in common with those who have children with rare diseases. I am always careful to draw a definite line that needs to be placed between our circumstances and theirs. Parents that receive a diagnosis that says that their child is fatal will experience things that are beyond anything that we have been through. The story that I am headed towards as I write these words will detail the journey of a family that will experience more than we have seen. This is because rare circumstances create an experience that is not seen by many. Being a parent to someone with special needs never crossed my mind as we began to raise our first two boys. Perhaps we should have left things there but our family did not yet seem complete. We wanted a little girl but that was not to be. Instead, we were given the opportunity to be parents to one very special human being. This, being our son Benjamin. Life seemed so normal up to the point that we had him. It was a normal go to work to raise a family kind of an experience. Things changed after we had him and we had to learn to adapt. Certainly, my life revolved around providing for my family but the extra needs that existed were never far away in my thinking. Much was left to my wife as I had to work to support my young family but I stayed involved as much as I could.
Our son was sick a lot and that required more time at the doctor’s office. There were battles over insurance coverage for things like durable medical equipment and things they would not cover. There were trips to the hospital and surgeries that otherwise would not have been needed. Getting him services that were needed required a lot of work. There were days that my wife’s frustration boiled over after dealing with various people over the phone. Everything from getting a handle on constant ear infections to controlling seizures were dealt with. We were never told that our son’s condition was fatal, although we were once told that it appeared to be degenerative in nature. This was after genetic testing was performed at a young age. Here it is, 30 years later. We have seen some of his skills start to deteriorate but he is still with us and we are happy to have had him in our presence. He is a special guy! While there are some ways in which our circumstances have been similar, there is nothing like having doctors reveal to you the fact that your child has a fatal disease for which there is no treatment and no cure. I think that being the parent to someone with special needs is a special experience. For a long time, I have felt that being a parent to one like our Benjamin is a special calling in life. Those who have children with a rare and fatal disease would love to have been dealt the same hand that we were. Many start their journeys believing that their child has a condition that they can live with. However, as the search for answers progresses, the news worsens.
Sometimes, more than one diagnosis is received with each one being progressively worse. Whatever the case may be, I believe that being a parent to one of these rare kids is a special calling as well. This, even though there may be much sadness involved. You have never loved to the degree that a person does, until you have loved a child with a rare disease. Call me naive, but I do believe that these kids produce in us a type of love that is like none other. Working through the heartache in order to care for a rare child like this produces in people a type of love that is profound and undying. There is a bond formed that is stronger than any other. Knowing the plight of a child that is on a rare journey and seeing how hard they work at just living a child’s life does something inside of a person. There are feelings produced that can’t necessarily be described in detail. It’s the type of love that can overwhelm a person. These kids can change people and also the direction of a person’s life. They often do that! There is always hope as awareness is raised and the promise of clinical trials come about. In some cases, positive results occur. What may happen for one family in the way of progress towards a cure can often bring hope to others. A breakthrough in research for one type of disease can happen for another. I have mentioned this previously and the thought comes to mind once again. This, as we begin a story about another child that has embarked on a journey with Sanfilippo Syndrome. Would it not be wonderful if the parents of a rare child could say, “My child was found to have a rare and fatal disease for which there is no cure, but then, there was this clinical trial ... “?
Two People Meet
This next story takes place in the great state of Tennessee, here in the USA. Like so many of the stories that I have done about rare children, this one starts with two people that meet and fall in love. This is that type of story and it’s time to get started. The story began in 1995 when Shaun O’Neal and Amanda Ogle met while attending high school. It was no accident that they both had French class together and that is where they caught each other’s eye. Shaun was a junior at that time and Amanda was a Sophomore. They didn’t begin to date right away as that began to take place starting in 1996. Shaun was at that time, 18 years old and Amanda was 16. It was as they started dating that they quickly realized that they were something special together. Shaun and Amanda knew that they were meant for one another. They would however, take their time and they did not rush into things. Shaun and Amanda would date for three and a half years and in the course of time, they would make plans to marry. It would happen in March of the year 2000 that this couple would become man and wife. During this time together, they would talk about their plans for the future. Amanda had a desire to teach and would pursue a Masters degree in education. Shaun wanted to have a career in law enforcement and that he would do. He began to serve his community, working at a local police department the same year that they were married. This couple’s plans for their future also included having a family after they were established in a career. Amanda would continue with her education, earning her degree and beginning to teach. It was during Amanda’s first year of teaching that her and Shaun would receive some very welcomed news. They were going to have their first child.
Things were coming together for this young couple and they were so excited as the time arrived for Amanda to deliver her baby. Both her and Shaun had met their goals for entering a career field of their choice and now, they would be parents. It would be in July of 2005 that they would welcome a little girl into their world. Nothing could be more special. They would name their newborn daughter Lierin and you just know that everyone that laid eyes on Lierin would adore her. She was born with all of her fingers and toes and she was so perfect in every way. Life was good and it was getting better by the day. Parenting their new daughter and anticipating new additions to the family led Shaun and Amanda to make a difficult decision. That being that it was best for Amanda to stay home and be a full time mom. She would do that after working in the teaching profession for a year and the couple felt good about their decision. They so enjoyed their time with little Lierin as they watched her grow and family life was to mom and dad’s liking. After adjusting to their new role as parents and enjoying their firstborn daughter for a time, the time seemed right to add to their family. Amanda would soon after be expecting their second child and the anticipation of their family growing was exciting. It would be in April of 2008 that Shaun and Amanda would welcome a baby boy into the family. This child they would name Kellen and just like his big sister had been three years before, baby Kellen was born healthy and whole. Shaun and Amanda now had one of each, a girl and a boy. Their little family was certainly coming together and the joy of having children was now multiplied by two.
Time would continue, just as it always does. Shaun was busy with work and growing as a law enforcement officer. He loved what he was doing for a career and he was especially pleased that he could provide for a growing family. Shaun loved being a dad and spending time with his family during off duty hours. That is a huge part of why we all work. That being to provide for the ones we love. For Amanda’s part, she loved the days spent with her two children, as well as, being a supportive companion to Shaun. As the two children continued to grow, the question as to how the O’Neals would handle their kid’s education would be at the forefront of their thinking. After discussing things among themselves, Shaun and Amanda would make the decision to have their children home school. This important decision was made in 2010, right before Lierin was to be starting kindergarten. There is some great curriculum out there for sure for home schooling but the O’Neals had something else going for them. That was the fact that Amanda was a trained educator. Why would they not take advantage of her training while providing a structured environment for their kids? Speaking of children, the O’Neal family was not yet complete and they would work on that! It would be the following spring that the O’Neals would welcome their next bundle of joy into the family. Lierin and Kellen would soon say hello to their new baby brother as Amanda would give Shaun another son. This little guy they would name Rory. Of course, just like his older siblings, Rory was a healthy and complete baby boy. He was loved instantly upon his delivery and the O’Neals were now a family of five.
Having two kids was wonderful but having three children made things feel complete. A family of five has a nice ring to it and a parent’s attention is certainly divided enough with three children. There was however, more for this family to experience together and they felt like something was missing. They did not yet know what that was but Shaun and Amanda did feel that something was missing for them as parents. Amanda explains that there was this urge to have yet another child and she talks about where it came from with the following, “After Rory was born, we thought we were done having babies, but all throughout 2013, Shaun and I kept feeling like someone was missing. We even accidentally ordered an extra kid’s meal at a restaurant more than once! We fought the feeling for a whole year before we decided to give in.” Someone very special would soon be on the way as Shaun and Amanda made the decision to have yet another child. There was someone who would enter their lives that would cause them to experience something that as parents, they had not yet known. They would experience things related to this child that would not be seen in the others. Shaun and Amanda would love this one as they did the other three. The only thing is that child number four would require more. Much more in the way of time and attention. Feelings that had not yet been felt would also be experienced. So it was in October of 2014 that Amanda would give birth to her fourth child. She would deliver to the family another baby boy and they would name him Kiernan. According to Amanda, Kiernan was in a hurry to get here. He was born at 37 weeks of gestation.
The Complete Family
While not being premature, Kiernan would come to this family a little early. This, while at the beginning of what would be considered the normal range of time (around 40 weeks). In addition to that, Amanda stated that Kiernan was born just seventeen minutes after the time that they would reach the hospital. Kiernan was born at Blount Memorial Hospital in Maryville, Tennessee, here in the USA. There was no trauma associated with his delivery but he did have a little bit of a problem with his breathing at first. The staff at the hospital would monitor this and Kiernan’s lungs would soon correct themselves without any time in NICU. You just know that he was a flawless looking little baby. He had all his fingers and toes and just like his sister and brothers had, Kiernan came to the showroom floor covered in brand new baby skin! Amanda felt nothing but “pure love” as she held Kiernan for the first time and who could not understand that? She held the person that would forever be the baby of the family in her arms. Not only that but she held the little person that was the missing piece to the O’Neal family. Shaun was a proud father for the fourth time and he was overjoyed with the experience. A love like none other would be experienced by everyone that Kiernan would meet and that would all begin as Kiernan met his parents for the first time. This writer knows from experience what it is like to be a parent to someone with special needs. However, the O’Neals would soon experience feelings beyond what I have felt. Kiernan was special in a very special way!
It is amazing how time flies and how quickly life passes by. It was now fourteen years since Shaun and Amanda had married. They were now the proud parents of four children and life as a family had really taken shape. They were active in life and in their community. Shaun was serving his community through his work and serving his family as well by providing for them. Amanda was now a full time mom that had her hands full. She was not only responsible for caring for her kids but she was also responsible for educating them. She was learning things along the way herself because as the old adage says, “You learn something new every day”. There were however, new challenges that were not yet expected but that would be revealed as Kiernan continued to grow. In the beginning, Kiernan would grow and excel in meeting his developmental milestones. His early development was normal and he would actually achieve his early milestones at a faster pace than his siblings had. Kiernan would begin to use his words about the same time that his brothers had but he didn’t start speaking in sentences as early as they did. Moms are generally pretty observant when it comes to the development of their child’s skills. Amanda also had the experience of teaching her other children using her education as a foundation. As time moved forward, it was apparent that Kiernan was having a difficult time in certain areas. For example, he was having problems with his alphabet and with learning to count.
It is true that children do develop their skills at different rates of speed so Shaun and Amanda were not too worried in the beginning of things. They assumed that Kiernan would catch up when he was ready. It made sense at that time that they had no idea. There were special circumstances that surrounded their youngest son. There was something else more obvious and very concerning that was taking place with Kiernan. That was that he was unwilling to potty train. Every parent looks forward to the time that their child becomes independent in this way. Changing a child or supervising them in the bathroom can, of course, be very time consuming. Amanda would tell me that they had friends whose children were also late in potty training and so, they thought that Kiernan would catch up in this area as well. They had no idea at this time that there was something significant developing with Kiernan but more would soon be revealed. It was in March of 2019 that Kiernan was brought to the doctor for his 4 year old wellness check. While there, the doctor did take notice concerning Kiernan’s speech delay and she stated at that time that Kiernan would benefit from having speech therapy. The O’Neals were referred to their local school system which offered the therapy free of charge. Once the school office was contacted, the testing required for Kiernan was set up and this is where more would be revealed concerning Shaun and Amanda’s youngest child. They would test Kiernan in all of the key areas of his development and would find that he had significant delays. There were special circumstances surrounding Kiernan.
There are oftentimes situations in which children are just a little bit slower at learning. These situations can be turned around by providing the child with additional help but sometimes, difficulties like this can be an indication of a larger issue. Kiernan would be accepted into a developmental pre-k class at a local school and that seemed to be a good fit for his individual needs. The special type of attention that Kiernan would get in the program seemed to pay off as the O’Neals would see growth in Kiernan after he started school. This was noticed by Shaun and Amanda who also noticed that Kiernan would backslide a bit after breaks from the classroom. Kiernan would love going to school and doing so seemed to be a good thing for him. Although encouraged by what they were seeing, Shaun and Amanda had begun to resign themselves to the fact that something was “wrong” with Kiernan. They just did not yet know what that was. Child number four had special needs and he was bringing to the family special circumstances that would have to be dealt with. What appeared to be the problem at the time was that Kiernan had something like autism or Tourette’s Syndrome. Maybe it wasn’t one of those specifically but Shaun and Amanda thought that it was something along those lines. They began to do research on their own and while they did see similarities between what they suspected and what they were seeing in Kiernan, there just wasn’t a complete fit.
A Life with Kiernan
Whatever the case concerning Kiernan would turn out to be, Shaun and Amanda were in the process of preparing themselves. They knew that Kiernan’s special needs were going to require extra attention and help for perhaps his entire lifetime. Here is what Amanda had to say about the realization concerning Kiernan’s situation, “We had discussed the fact that he was unlikely to ever be able to live independently, and we were okay with that because we didn’t think that he would feel or realize that he was missing out on something.” There is a time in which parents of a child with special needs start to understand that caring for their special child may be a lifelong commitment. Some might see this as a burden while others see it as an opportunity to experience love in a special kind of way. People with special needs often evoke feelings in a person that may not otherwise be drawn to the surface. The extra care and attention that is required can create a bond that is strong and unbreakable. The bond that was being created between Kiernan and his family was one that was just that. Their love for Kiernan was growing by the day and there was nothing that would change that. They did know at the time that the love that they had for this little guy would be stretched to the degree that it was about to be. There are not many people that would tie the symptoms that Shaun and Amanda were seeing to a rare disease. Most would not even think to consider it at this point. Perhaps, only if there was a known case within the family’s history. It was actually what Amanda would refer to as “a bit of a fluke” that the events leading to Kiernan’s diagnosis would take place. This would all happen as Kiernan would receive medical attention for something completely unrelated.
Amanda explained that Kiernan was a chewer, meaning that he would chew on random objects that he would come across. In this particular case, he had chosen to chew on the end of a bungee cord and would end up getting it hooked in his mouth. As a result, he would develop an infection and that was why he needed to be seen by a medical professional. This would take place in April of this year (2020) and it would be at that time Kiernan would be seen by a nurse practitioner. The NP would deal with the infection but as he did, he noticed something about Kiernan. That was that his facial features were “coarse” in appearance and this led him to believe that Kiernan may have had a form of MPS (Mucopolysaccharidoses). He suspected either Hurler or Hunter Syndrome (MPS I and MPS II) and he wanted Kiernan to be tested genetically. Like with many things in the year 2020, COVID-19 would interfere with Kiernan being seen in person by a genetic counselor but an appointment would take place regardless. It would take a few weeks but a telemedicine appointment would take place on May the 12th of this year. Several questions would be asked by the genetic counselor at that time and she would look at Kiernan through the webcam. Amanda said that the counselor was sufficiently convinced that Kiernan could have a genetic disorder and she would have Kiernan brought in to have blood drawn the following day.
Having the suspicion that Kiernan had a form of MPS made the testing more simple to perform. They would do testing specifically for an MPS related disorder using a kit provided by the company BioMarin. It would take about three weeks to get the results of the testing and once they were received, the O’Neal family would be changed forever. There are not many families that would ever suspect that their child has a rare disease as symptoms start to appear. We would usually suspect that whatever the problem, the issues surrounding a child can be resolved through treatment. When a diagnosis for a rare disease is given, life takes on a different dimension. A family experiences things that the majority of people will never see in a lifetime. There are feelings felt that are impossible to feel unless you have experienced something similar. The families go on a journey with their child and that journey will take them down a road less traveled. It would, in fact, be revealed that Kiernan did have a form of MPS but it was not one of the forms that had been suggested. I’ll let Amanda’s own words explain while giving us her and Shaun’s reaction, “On June 8, we received the phone call that would forever change our lives. The nurse told us that the test was negative for both Hunter and Hurler, but that it showed that he had a condition called Sanfilippo Syndrome. That completely knocked the breath out of us.” There is no doubt that the O’Neals would have been completely dismayed had Kiernan been found to have either Hunter or Hurler Syndrome. However, there was a reason that the news concerning the Sanfilippo diagnosis was especially hard to be informed about.
You see, it was just a little while ago, this year at the end of April, that a friend of Shaun and Amanda had lost a son to Sanfilippo type A. It seems cruelly ironic that their own son would receive a similar diagnosis. How devastating it would be to receive this news concerning their Kiernan. This special little man who had made their family complete also had Sanfilippo Syndrome. Right away, Shaun and Amanda knew what this meant. Amanda talks about what their immediate response was and what the days that have followed have been like for them, “We were, as is to be expected, absolutely devastated. We didn’t know how we were going to go on with our everyday lives when our world was just upended. There were several days of crying followed by weeks (so far) of feeling completely physically, mentally, and emotionally exhausted.” Shaun and Amanda are, at this point, not that far removed from having received the diagnosis. Not far at all! Amanda stated that they would meet with the geneticist, Dr. Hamm, the day after receiving the diagnosis over the phone. This would take place at East Tennessee Children’s Hospital in Knoxville. They would receive more details about the disease and would be told that Kiernan has Sanfilippo type B. The doctor discussed what additional testing was needed and also what the possibilities for clinical trials might be. Amanda would tell me that her dealings with all of the doctors that they have come in contact with has been positive. They have all shown her family an attitude of compassion and all of them have been helpful. Many of the phone calls that they have received have been from the doctors directly and not nurses or other staff members only.
Having doctors that care and who are empathetic makes a tremendous difference. There are not many things worse than to be given the news concerning your child’s diagnosis in a careless fashion. I have done stories in which this had been the case. The parents are just left alone to deal with things on their own. All, while being despondent and heartbroken. This was not the case for the O’Neals. Not only did the doctors deal caringly with the O’Neal family but they communicated well with each other. Here is what Amanda had to say about this, “Our pediatrician has been very supportive, and she knew about the diagnosis before we told her. We were shocked because that was the first time we’ve experienced such good communication between doctors’ offices. Dr. Hamm has been amazing!” For his part, the geneticist has not only made mention of a clinical trial that Kiernan may qualify for but he is actively helping with trying to get Kiernan placed in the trial. Not just any trial will do for mister Kiernan. He has Sanfilippo type B. There are four types of Sanfilippo Syndrome. They have been given the designations Sanfilippo type A, type B, type C, and type D. These trials are never a one size fits all since each one is specific to the enzyme that is affected. The very good news is that there is a clinical trial that is available at Nationwide Children’s Hospital that may become available to Kiernan. It involves Gene Replacement Therapy.
To explain things in the general sense, this is how Gene Replacement Therapy works. It starts with having a scientist create a good copy of the non-working or missing gene. The gene is then placed in what is called a vector. That acts as an envelope that will hopefully carry the gene to places it needs to go within the body. The vector is a naturally occurring virus that is chosen to do the job and it is used after it has had changes made to it. Interesting for sure, using a virus to perform such an important function. It sounds simple but the task is complex. This is a one time treatment and not a recurring type of therapy, such as Enzyme Replacement. The hope is that the cells within the body that are being affected by the missing enzyme will soon begin to function normally after GRT. This is amazing stuff and it is something so many parents with rare children hope to see happen in time to help their child (or children). The scientists that work on these projects are to me, another group of heroic individuals. As this is being written, Kiernan is in the process of being evaluated for eligibility to gain entrance into the program. So far, it seems as though he is a likely candidate and both Shaun and Amanda are guardedly optimistic. Maybe excited at the possibility is a better way to put it! Would it not be wonderful if this family could tell people about how their lives were changed by a clinical trial for Kiernan? This, as his life, and the quality of it, had been extended into adulthood. Remember, there was a time when the O’Neals thought that they perhaps had a child with something like autism on their hands. They gladly accepted the fact that they may have a son that would need help for a lifetime. They were okay with that and this, I completely understand!
I have asked the question so many times now. What is it about these kids? What is different about a child that has a disease that is rare and fatal? Is it the fact that they have to work so hard at just being a kid? Is it that they display a type of innocent resilience that is not seen in others? Is it being aware of the plight that is created by their condition? Is it the fact that we know, they are only here for a time? Is it the way that we see them battle, all the while, doing so with a smile? This, for as long as their bodies will allow them to? Is it the things that they teach us about what is important in life? Perhaps it is all of these things put together and so much more. The importance of Kiernan’s life to this family cannot be overstated. He is a very special little man. Here is what his mom, Amanda, had to say about him, “Even before we knew his diagnosis, even before his developmental delays became obvious, we all knew that Kiernan was a very special spirit, an absolutely integral part of our family. Our love for him is as potent and life-sustaining as the breath in our lungs and the blood in our veins. Kiernan’s diagnosis has really brought home to us that none of us is promised tomorrow.” Knowing this has caused this family to enjoy each and every day that they have with Kiernan and each other. Spending time with family is more important than any material pleasure that can gain our attention. The hope and prayer of Kiernan’s parents is that he will be accepted into the clinical trial that they are applying for. They are so close at this point. It would be so wonderful to have Kiernan’s life extended into adulthood but the O’Neals will take nothing for granted. They are grateful for each day that they have with him.
This family has decided that they will do their best to give their best to Kiernan. This, by trying to be as upbeat as possible while enjoying the time that they have with him. That may be a very long time, especially if Kiernan is accepted into the trial. The families that have gained access to these trials have often seen positive results and one would expect the same for the Kiernan and the O’Neal family. I know of so many other rare families that are just hoping that a trial for their child may become available soon. Just like the O’Neals, these others are giving their children the best life that they possibly can. A love that is profound and undying. That is what I see when I look at the details for each one of these stories. All you have to do is to look into the faces of these children to know why that type of love exists. This is what the heart is capable of when love is involved. Regardless of what happens, they will make Kiernan’s life as amazing as possible. Kiernan’s siblings along with his mom and dad will give him the attention that he so richly deserves while dealing with difficulties that his condition brings with it. This is not always an easy task. Repeating a part of our opening quote, Amanda explains their method of dealing with the challenge before them, “We’re going on adventures, spending more time playing together, snuggling more…doing the things we have always done but with less wasted time.” They do not know in complete form what the future will hold but Shaun and Amanda will make the best of the present that they are capable of.
Kids that Amaze
Have you ever been charmed by a little person? By their actions and the cute things that they do? Kids in general are special and that is why we enjoy having them around. Rare kids, however, are the most special and the most amazing. This even though there are challenges associated with the conditions that they battle. Their presence fills any space that they find themselves in. Amanda explained the experience of having Kiernan at their house in this way, “He brings all of us so much joy, so much laughter, and, admittedly, a bit of frustration (though, we try hard to keep that at bay since we know he can’t help some of the things that frustrate us). He is one of the sweetest, happiest children we’ve ever met, and he spreads his joy to all around him. Everyone who is blessed to get to know Kiernan can’t help but fall in love with him.” And you know what Shaun and Amanda? I believe you completely! The O’Neals are not alone in this. Not by a long shot. In addition to family and friends who are very supportive, they have discovered the community that they are a part of through social media. Receiving the insights of families that have faced the same challenges has been a great help. I know that they will be able to make themselves available to new families that come on board as their children are diagnosed. Their friend Chester was previously mentioned as having lost his son Lucas to Sanfilippo just prior to Kiernan’s diagnosis. Chester has been a true friend who has provided tremendous help to Shaun and Amanda at a local level.
The O’Neals are very new to Kiernan’s diagnosis and I so appreciate their willingness to tell others about their experience. They are trying to stay in the present time while not dwelling too much on what the future may hold. This, while also trying their best to get Kiernan all of the help that he needs. Although it is difficult, they try their best not to let worry and negative thinking consume their days. The time that they have to spend as a family is too precious but still, they do have their challenges. I know that Shaun and Amanda have worked at building a positive family foundation for themselves. This writer knows how important to our communities the men and women of law enforcement are and we, at this house, thank Shaun for his service. I know that he is every bit as good at fulfilling the requirements of his profession as he is at being a husband and a father. You just know that Amanda is exceptionally qualified to be the Mamma Bear of the house. Shaun not only does the work of a police officer but he also works part time with cattle at a ranch operation. This helps give Kiernan exposure to horses, cattle, and life in the country. The family keeps egg laying chickens and other messy little critters at their modest homestead. Mister Kiernan also does therapeutic horse riding and all of this together, makes him a real cowboy. Kiernan’s older sister and brothers are involved in TaeKwonDo and have been for the last two years. Lierin, who is the oldest, has just earned her probationary black belt and she instructs. You go girl! You get the picture, right? This is one really neat family!
There are people at the O’Neals church, and from their community, that have fasted on Kiernan’s behalf and prayers are continuously being said for him and his family. There have been GoFundMe accounts set up to help with Kiernan’s medical expenses and other people have found creative methods for raising funds. This includes things like selling baked goods and providing window decals free of charge to sell. The help for this family from others is ongoing and so appreciated. I think that show of support means as much to them as the funds that are being raised. Amanda explains while mentioning a big and upcoming event and it doesn’t end there. Here is what she had to say, “One of Shaun’s lifelong friends is organizing a benefit for Kiernan on Halloween with raffles, food, and activities for kids during the day and then a more adult-oriented party at night. We’ve even received money, prayers, and well-wishes from complete strangers. I think the biggest and most important effect of all of this is spreading awareness of this devastating disorder to others in our community.” Just showing that a person cares means so much to families like the O’Neals. Especially in this age where a “Me first” mentality seems to exist.
I sometimes think about what it would be like to be free of the responsibility, but I don’t think about it for very long. My experience of being a parent to someone with special needs was, I feel, meant to be. The experience of being Benjamin’s father is part of who I am. He is part of my identity as a person. Life would have been so much more simple had we not tried for that little girl that never came. I am so glad that he is part our lives. So you must know where I am going with this. I am going to ask, was this family meant to have someone like Kiernan in their lives? Was he sent to them? Kiernan would end up being the “something” that was missing. Whatever the outcome may be, will their lives have been made richer. This by having Kiernan come into their midst so that they can experience the type of love that they have for him? This may be a bigger question than people would want to entertain but I thought that it was worth asking. Regardless, Shaun and Amanda will do everything in their power to help their son win the battle that is Sanfilippo Syndrome. This they will do while the entire family enjoys each day with Kiernan. I’ll end with one final quote from Amanda, “We won’t stop advocating for him or making sure he gets all the treatment he needs, of course, but we want to make sure that’s not all his life is about…that he can still live a fun, joy-filled childhood, knowing how very much he is loved.” This is exactly what one would expect from a set of loving parents. A person couldn’t expect them to be anything but that when we are talking about a little guy like Kiernan. Thanks for taking the time to read his story!
Blogger and Advocate
“We were given hope that day. We were given a community of people who understood us and validated how we were feeling and we have now all become like family.”
Reagan’s Mom and Advocate
It happens throughout the generations. People meet and they decide that their future will include one another. We were meant for this. By this I mean getting married and having a family. There are exceptions of course but family life is the center of the goals that most people set for themselves. If you have the love of a family, then you have something that money and possessions can’t give you. Finding the right career is important but having one is meant for being a support to the ones that you love. There are struggles that are associated with parenting a child but those are accepted as part of the process. The pride and the joy that one has in seeing their children grow and prosper is a big part of the cycle of life that we experience. What is there that we wouldn’t do for our children along the way? Some sacrifice time and resources but for most, parenting is simply a labor of love. Little league games and soccer matches, perhaps gymnastic or swim meets. Family life revolves around activities such as these. Then there are all of the family gatherings and graduations at the various levels of education. Time moves so quickly and much of life ends up being about the memories that we all have made together.
Parents naturally do whatever is needed to be done for their kids. Help with homework and being taken here or there. Doctors appointments and well, you name it. Those things happen under normal circumstances but what if things occur that are out of the norm? Children sometimes get sick and I am not talking about just a cold or the flu bug. The possibility of a life threatening illness taking place is part of the human condition. Sometimes children will have special needs. It could just be a learning disability that can be overcome. Maybe something more severe. Something like epilepsy or autism. One can be overcome with medication while the other could be a lifelong obstacle that requires a parent’s help. Being a parent of a child with special needs is to me, a special position in life. The things that are required in this role are, in many ways, very much more challenging. As a parent of someone with special needs, you may have been signed up for a lifelong commitment to your child. At least in some form. This writer is a parent to a 30 year adult with special needs. There have been challenges along the way but we have taken each one in stride because we love our son so much. He is a very special human being and most of the time, he is a joy to be around. We knew why things weren’t right with him when he was born because of family medical history. We’ve just accepted the challenges as they have come our way.
What if there is no indication that your child will inherit a condition that is transferred genetically? What if it all comes unexpectedly as things begin to go wrong with your child’s health? Your search for answers leads to the realization that your child has a rare disease. A disease that you have never heard of. Never before did the possibility of something like that happening ever cross your mind. What’s worse is that you find out that there is no cure and the diagnosis is one that tells you that your child is terminal. There is no news more difficult for a parent to receive than that. The shock and dismay leads to a grieving process for someone who is still in your presence. The grief doesn’t leave but it is pushed to the side as a resolve to help your child takes over. The feelings of being alone to deal with the situation dissipate as you discover that you are now part of a community that exists worldwide. There are others that have experienced the same things that you are going through. The existence of organizations that can help and potential clinical trials that have been promised give you hope. Social media was once just a distraction from everyday life. Now, it’s a way of connecting with those who share in your struggles.
For me, it was first the kids that battle Batten disease that caught my attention. Now, I have added to those whose journeys I follow, kids that battle Sanfilippo Syndrome, as well as, other MPS disorders. At the beginning, I was just so taken by the details of these stories. The parents display a type of love that is profound and undying. These kids and the way that they battle so innocently. All of their stories are ones that stir the emotions. These are children that we are talking about. I am taken by the resilient way in which they handle adversity and the way that they bounce back from everything that life throws their way. I think that it is a combination of knowing their plight while looking in at their innocent ways. It all seems so unfair, and yet, they handle the adversity that they face so gracefully. I know that these kids have their bad days but they always seem to bounce back. Having to face these types of circumstances will often produce people that are considered to be extraordinary. A parent’s way of dealing with the grief of such a situation will often result in them taking up the role of being an advocate. They may be an advocate for their own child but sometimes, they end up advocating for the entire community that they find themselves being a part of. This is the way that nonprofits get formed.
Whatever the case may be, parents will generally do whatever it takes to help their child to battle a rare disease. They search for any available treatment and would travel any distance necessary to get results. This is what helping a child to battle a rare disease does to parents. It takes ordinary people and turns them into people that will take extraordinary measures to help their child battle. They will go any distance, at whatever cost, to help their little warriors. If a parent could say, “My child had a rare disease for which there was no cure but then, there was this clinical trial that was available.” Would that not be wonderful? And with that, the disease which was terminal, was stopped in its tracks. That is what we would all wish could happen. That is the type of thing that brings hope and that is why parent advocates do what they do. This next story touches on many of the details that I have just shared and it is taking place in the great state of Georgia, here in the USA. Just like with many of the stories that I have done, this one starts with two people that meet and fall in love. This is another small town story and it began to happen in the city of Fairburn, Georgia. Let's get started!
Destined to Meet
How many times had Kirk McKenzie looked out the kitchen window of his family’s home and not known? In plain view as he frequently dropped off dishes after a meal, was a house belonging to the Power family. Inside that home was the person that he was meant to spend his life with. There had been other intriguing coincidences that would exist. Kirk’s best friend had gone to church with Erica Power and yet, Kirk and Erica had never met. Kirk’s brother had even been taught his kindergarten year by the grandmother of Erica. This is a small town that we are talking about and people knew each other. Even so, Kirk and Erica had lived on the same street for fifteen years and had never met one another. That is until they both met while working at the same local store, that being Jernigan’s Hardware and Gifts. This had taken place the year after Erica had graduated from high school and they both would begin to date in November of 2004. Kirk and Erica dated for six years prior to becoming engaged. It would be on Christmas Eve of 2010 that Kirk would ask Erica to become his wife. The young couple would wait nine months to be married for a very special reason. A date of significance would arrive on 9/10/11 and that is the day that they picked to get married. You see, Erica was part of a close knit family and she was very close to her grandparents.
The date that they picked for their wedding was actually the date that her grandparents had been married. That day would have been their 51st wedding anniversary. This, except for the fact that Erica had lost her grandfather to Leukemia when she was in the 11th grade. The day chosen was a special one and it was a day not easily forgotten. Especially with it being 9/10/11. Erica joked that Kirk should never forget an anniversary date like that. Well, to be honest, I don’t think that any of us could! The plans that Kirk and Erica had for their future were typical for what many young couples long for. A life of relative peace spent together in small town America. Raising a family in love while looking forward to all of the events that couples and future parents look forward to. Kirk and Erica wanted children, at least two. I suppose that what they wanted most was that their kids would be healthy but each had a minor preference for gender in the back of their minds. You see, Erica had grown to be very close to both her mother and her grandmother. So we are talking about a bond that existed between three generations of women. Erica would hope to one day have a daughter. Wouldn’t it be special to add a fourth generation to the bond that existed already with the women of the family? Kirk on the other hand had hoped to have a son one day and he had his reasons. Certainly, there is a bond between father and son that is special. Bringing up a son while training him in everything that living life requires is a special task for a dad. Sharing the love for activities that men enjoy doing together helps to create a bond between father and son that will last a lifetime.
And then, there is baseball! We’re talking about America’s pastime. There are so many of us that have fond memories of growing up around the sport of baseball. Some of us played for fun and the love of the sport, while others had talent and excelled at playing. So many kids in America learn about competition and fair play on the baseball diamond and so many of our childhood heroes are the great players of the game. Kirk loved baseball growing up and he still does. He was a standout player in high school and like many people his age, he had hoped to have a chance to play professionally. Kirk’s skill at his level on the baseball field would gain him an invite to a baseball camp as he attended high school. This was a big deal as the camp was put on by Major League Baseball. In attendance at the camp would be scouts and other representatives from many different major league teams. This would be Kirk’s big chance at a future in professional baseball but as it turned out, it was not meant to be. It would be about a week or so before the camp began that he injured his elbow and this left him unable to compete. Disappointed for sure, Kirk pressed on with life. He would actually play some semi-professional baseball but it would not lead to a career in the sport. What this all left him with however, was a love for the sport of baseball and a lot of knowledge that he could pass on to a son. Kirk wanted a son!
It wouldn’t take long for Erica to become pregnant. The happy news would be received four months after Kirk and Erica married. Their first child was to be a boy. Kirk would have the son that he had wanted. All would go well with Erica’s first pregnancy and her baby boy would be delivered on October the 14th of 2012. They would name their new little man Garrett and both mom and dad were so happy to say hello to him. Garrett came into this world ready to play ball! He had all of his fingers and toes and that was important because dad now had his future little leaguer. This is the best of times for a new family. Mom and dad are not far removed from their honeymoon and they are falling more in love with each other with each passing day. Now, the bond that they share with one another is shared with this new life. The joy of parenting a little person is shared between both the parents and that joy is shared with extended family. This is a beautiful thing as generations of people are sharing life together. Both Kirk and Erica got established in their work life while they began to raise little Garrett in the usual way. Garrett was the center of this couple’s attention and family life was to their liking. Why would it not be? The McKenzies didn’t rush into having another child but rather, they would wait a couple of years until the time was right. This makes perfect sense and the time would arrive for them to try for another child. Again, Erica would have no problem conceiving and soon, Garrett’s future sibling would be on the way.
Wouldn’t it be wonderful if this time around, Erica would get to have the little girl that she wanted. Having one of each, both a boy and a girl, would be special. In fact, that is what Erica would hope for as she states the following, “I prayed to God for it to be a girl. I wanted a little girl so bad. I loved my son so much but there is nothing like having a little girl.” Her second pregnancy would prove to be more difficult than the first one was. Erica said that she felt extremely sick for the entire nine months. What expectant moms often go through in order to bring a new life into the family! What would make it all worth the trouble was to hear the news that they would be welcoming a little girl into the family and that would in fact, be the case. Kirk and Erica would receive this news as the results of a sonogram were revealed. They would soon have a little girl to go with their little man and everyone was excited to know this. One thing that generally happens is that people start to think of names once the baby's gender is revealed. In this case, Erica already knew the baby’s name would be that of her grandmother. She would be given the name Rebecca. Kirk and Erica also had a middle name in mind and that was the name Reagan. This was a name that they really liked and it fit so well with the first name that they had picked. They couldn’t wait to meet their little girl and to give her this name.
The entrance of Rebecca Reagan into the world would not come without increased difficulty. This had already been a challenging pregnancy for Erica but she was so excited to be having a little girl. The challenge of carrying this baby increased as the time would draw near. It was two weeks before the delivery date that Erica started to have issues with dehydration. This would require several trips to the emergency room in order to get more fluids into Erica. Because she was getting sick, the doctor decided to induce labor a week early. The time for the delivery of this baby had come but again, another added challenge would arise. When it came time to induce labor, the doctors had found that the baby had flipped and had become breech. This was not a good decision on the baby’s part and this would give her the label of being an Unstable Lie baby. This, according to Erica, means that a baby can flip at “the drop of a hat”. It would seem that this little girl couldn't make up her mind, or perhaps she could and just knew that she was making things difficult for her mamma. The doctor had been prepared to deliver the McKenzie’s new baby via cesarean section but that would end up not being necessary. Erica explains with this, “They prepared me for a C-section and right before they were wheeling me back decided to check her one more time with an ultrasound. Well guess what? She was back head down. She knew mama didn’t want to go through all that. LOL.”
According to Erica even the doctor referred to baby Rebecca as “trouble”. I can only imagine that this would make him a little nervous, thinking that this baby better stay in the correct position for her exit from mom’s tummy. All of this was taking place at Piedmont Fayette Hospital in Fayetteville, Georgia and this is where the McKenzie’s new addition to their little family would make her entrance. Named in honor of her great grandmother Rebecca, It is the name Reagan that she would become known by. After a few hours of additional labor, baby Reagan would be born and oh, was everyone so happy to see her. Especially her mom! She had her little girl and she was so beautiful and special. With the exception of some jaundice, she was perfect in every way. She had all of her fingers and toes and she was covered in brand new baby skin. Not only that but baby Regan was born with a full head of dark brown hair. She was a perfect size and weight. She was 20 inches long and her little self weighed 7.1 pounds. Reagan would pass all of her newborn screenings and the family of four would be on their way home together in a few days. The experience of delivering her baby and getting to hold her for the first time was “everything” that Erica had hoped for. The big day was February the 28th of 2015. Dad had his future little leaguer and now, mom had her baby girl. It was all wonderful beyond belief. Things were at this point, perfect in every way. A perfect size little family and everyone was in great health. Family life was now even more to Kirk and Erica’s liking as things continued to come together for this young family. They had a boy and a girl, and they had each other. Their entire family was overjoyed with the addition of little Reagan. It seemed like the perfect situation and who could argue against the fact that it was?
Garrett was not yet three years old and now, his life was complimented with having a little sister. How perfect is that? He and baby Reagan were both close enough in age that they would grow close to one another as they continued to grow as little people. This young family was establishing themselves in life and in the community that they were a part of. Reagan was growing and she was growing to be prettier by the day. Being a mom to this little girl was everything that Erica had hoped for. She looked forward, each day, to seeing what Reagan would do next as she continued to develop into the little lady that she had dreamed of having. This was truly a special experience. As Reagan reached the 4-6 month age range, Erica looked for all of the normal milestones to be met in her daughter. At this point, the McKenzies had moved to Palmetto, Georgia. Garrett was a preschooler at that time and he was growing fast. Kirk was working for the city of South Fulton and Erica had just started working at the Eye Consultants in Atlanta. Not knowing, at this point, what the future would hold, Erica’s choice of vocation would prove to be useful to the family in more ways than just providing additional income. There was so much more to come as a family. In most cases, early development might include a child’s little limbs beginning to move with more purpose and there should be an increase in the quality of hand-eye coordination. There would be a lot of babbling taking place and an increase in new sounds should be noticed by mom and dad. Whatever the case may have been with Reagan at this point, Erica was noticing that her daughter was not achieving the milestones that she had seen with little Garrett at this age. The most notable thing was that Reagan was not sitting up yet.
Something was different and it was concerning enough that Erica would mention it to others. Once she did, Erica would be assured that Reagan would catch up and she was told to not worry just yet. Reagan was under the care of an amazing nurse practitioner named Jacquelyn McDowell. She is not only Reagan’s primary physician but also a family friend. Erica had great confidence in her as she offered words of encouragement. Even so, a flag had been raised by Reagan’s lack of progress and everyone would be keeping an eye on her. A mom’s intuition is like no one else’s and you just know that Erica would be watching with each passing day. The weeks and months would move forward as did life as a family. Life together was still a beautiful thing but Reagan would stay behind where she should be as she continued to grow. It would normally be between nine and fifteen months of age that a child would learn to walk. This had not been the case for Reagan. She was not yet walking at 18 months of age and again, her parents were concerned. On top of this, Reagan’s speech was not where it should be. Erica stated that Reagan was “just talking a lot of gibberish”. She had a lot to say but nothing that came out of her mouth made any sense. Reagan, like a lot of kids her age, had a chronic problem with ear infections. She would finish a round of medication only to have her ears infected again soon thereafter. Could this be part of the problem? Was her hearing impaired and causing an issue with the development of her speech? Reagan’s Nurse Practitioner would suggest that she be seen by an ear, nose, and throat doctor and she would set up the referral.
At this point, Reagan’s NP was concerned enough that she also recommended that Reagan be tested genetically. She had to be seeing enough in Reagan that there was concern about the possibility of an underlying condition. Concern about something outside of what would be considered normal. Kirk and Erica would make a reasonable decision and that was that they would first pursue getting answers in relationship to the issues with Reagan’s ears. So, the appointment with the ENT doctor would be attended and Reagan would soon have tubes placed in her ears. A hearing test would also be ordered and it would be in the form of an Auditory Brainstem Response (ABR) Evaluation. This is a test to measure how well each ear can pick up sound. This test also tells the physician how well the hearing nerve sends information that is received to the child’s brain. The test is normally done under sedation. The ABR would reveal that Reagan had mild to moderate hearing loss and this led everyone to believe that they had found the problem. It would be on September the 11th of 2017 that Reagan received her first pair of hearing aids. It is not unreasonable to think that any child would make it through to adulthood without some form of difficulty. So be it if that was all there was that had been taking place with this little princess. An issue with her hearing was certainly something that could be dealt with and overcome over a lifetime.
The next step was to get Reagan into therapy in order to deal with the effect that the hearing loss had on her speech. It would have been wonderful if the therapy had been completely effective but that would not be the case. Erica said that they would see progress initially but then Reagan would regress in that area. On top of the issue with Reagan’s hearing and speech, Erica would notice that there was something not right with her daughter’s vision. Reagan had been seen by Dr. Sethi, one of the doctors that Erica was working for in the past. This was because of an issue with her tear ducts. Blocked tear ducts are common in infants and in Reagan’s case, it caused her to tear excessively. Her tear ducts had never fully developed and the problem had been dealt with by the ophthalmologist. Dr. Sethi was another physician that was trusted completely by Erica. The doctor had dealt with Reagan’s vision exams in the past and she was now in for a routine check-up. Upon examining Reagan’s vision, Dr. Sethi noted that Reagan’s vision had appeared to have gotten worse. She wasn’t too worried about that at the time but the doctor had another concern and that had to do with Reagan’s facial features. Although Reagan was a very darling little girl, there was something noted in her appearance that caused the doctor to be concerned. She would ask Erica if she had ever considered having Reagan tested genetically. Could the issues with little Reagan be associated with a genetic disorder?
This was the second mention of having such a test done and Erica knew, she needed to take this type of action. Here it is in her own words, “I knew at that moment we had to do it. I had just had two doctors whom I trusted greatly tell me we should get this done. I called immediately and set up the appointment.” Erica would make that appointment and it would be at the genetics clinic associated with Emory University in Atlanta that little Reagan would be seen. It took about a month to get into an appointment once the call was made and the day would come for them to attend the appointment. Kirk would travel that day with Erica and Reagan to the appointment and while there, Reagan would be seen by two doctors. The first physician, Doctor Black, was involved in a fellowship at the clinic as she was in training. She was very kind and would be the first to spend time with the family as they all discussed Reagan’s medical history. The next person would be Doctor Li, who was an experienced geneticist. Her first remarks upon entering the room had to do with the fact that Reagan’s facial features were coarse in appearance. Kirk and Erica had not yet heard the term and neither knew what that meant. This would, of course, take them by surprise and Erica felt a little put off by the comment. This was her daughter after all. Dr. Li had recognized something in Reagan that had caused her to draw a preliminary conclusion. She started asking questions and then asked Erica if she could take Reagan’s picture. Of course they consented and so, Dr. Li took the picture and then turned it around so that Kirk and Erica could look at it.
For Dr. Li, what she was seeing was obvious to her although Kirk and Erica were, at this point, completely unaware. Erica recounted the doctor's words in this way and then shares what her response was. The doctor said, “I don’t know what kind but more than likely your daughter has a form of Mucopolysaccharidosis also known as MPS.” Erica was at that point mystified. Neither her nor Kirk knew all of the details or what this meant concerning Reagan’s future. Here is how Erica described her initial reaction and what she was told to be the next step, “I had no clue what to think. She spoke with us and explained everything and how we would go through testing to see what kind she had.” It always takes time to process information and the McKenzies would have that time as they waited on the test results to come back. For Erica, the wait for the results was “absolutely excruciating”. The wait for the findings would be seven weeks and that would, understandably, make the wait all the more difficult. Dr. Li had used a computer based application to compare Reagan’s facial features to known children having the disease, so there was a certain amount of assurance that Reagan had a form of MPS. Even so, there would be no conclusion to the search for answers until the results returned and this would be a most difficult thing to face as a family. Kirk remained hopeful for something positive to come from this and Erica would tell me that Kirk was her rock during the wait. Even with this, she admitted that she was “extremely depressed” during the time that they were in waiting. Who could not understand how this would be the case?
So very slowly, the time would go by and the day would approach for the results of the tests to be revealed. Is there ever a good time for bad news to be received? Usually not but something seems wrong when bad news or trying events happen around Christmas time. That time is supposed to be a time of joy and celebration but for the McKenzies, it would be anything but that in the year of 2018. It was five days before Christmas that Erica would receive the call that she probably expected and dreaded. Her reaction was exactly what one would expect. Here it is, stated in Erica’s own words, “On December 20th 2018 our world was completely shattered. I was at work and got the phone call from Dr. Li. She told me the results showed Reagan had MPS IIIa. I absolutely fell apart. My best friend Misty came in the office because she had answered the phone and knew who the call was from. She just sat and held me as I sobbed.” Erica stated that at a certain point, she was able to pull herself together enough to contact her family. She called her husband while her friend Misty called Erica’s mother. They then all met together at home and headed to the clinic at Emory. Erica wanted to be with Dr. Li in person to discuss the findings. She described what took place as they arrived at Emory, “When we arrived we were greeted with hugs and I’m sorries. Both Dr. Li and Dr. Black we’re ready to start fighting with us and for us. They had already been doing research that day trying to find any clinical trial they could get their hands on.”
The staff at the clinic had to know that this was a terrible time for such a diagnosis to be revealed. They also knew that it would take a little time to deal with the grief and for the family to process their feelings. Erica stated that the doctors at the genetics clinic said that they would help in any way that they could and to call them after New Years. Doctors Black and Li could not have been more caring than they were and that left Kirk and Erica with a positive impression of them. This is how Erica would describe her feelings about the two of them to me, “They both sat and shed tears with us and I couldn’t have asked for any better doctors than the both of them.” Even with this, Sanfilippo had become an unwelcomed guest at the McKenzie house over the holidays. For Kirk and Erica, and everyone in their extended family, “Christmas was not the same”. It would be impossible to set your feelings to the side during that time and it would leave even more idle time to sit and think about what the future may hold. At that point, there was nothing positive to take away from what was happening but it was Christmas and this young family knew that they were loved. I am positive that Reagan felt the love that was shared for her by those that surrounded her but did she know how enormous that amount of love was? She was diagnosed five days before Christmas. Beyond the passing of a loved one, I can’t imagine a more difficult thing to have to go through. Especially during the Christmas season. There would be a cause for hope in this family’s future but at this point, they had to feel like there wasn’t any.
For the McKenzies, Christmas of 2018 would be of a different type for obvious reasons. It would be filled with grief but that would not paralyze Erica. Just like it would be with so many people, Erica would want to learn as much as she could about Sanfilippo Syndrome. She would turn to the internet for finding information and that would lead to her viewing a video on YouTube. The video was about a little girl named Eliza O’Neill, and her family. It would be a few days before New Years that Erica would get the courage to reach out to Eliza’s father, Glenn O’Neill and when she did, it would make all the difference in the world. Any parent or family member that fights alongside a child with a rare condition is special in my eyes. Working past the grief over what the future holds in order to do the best that they can for their rare child is a difficult task. A love that is that is like none other, I’ve mentioned this over and over. I believe that it is that type of love that drives people to do their best at whatever level they are able to. Sometimes, people are in a position that allows them to do things that are beyond what most of us are able to. While trying to accomplish their best for their own child, they also accomplish things for others. This is how non-profit foundations come about. Some make a big difference and others have a profound impact on the community that they represent. Supporting families that have children afflicted with a rare disease is so important. Giving families hope, when it is there to give, is the greatest thing that can be done for them. That is what Glenn and Cara O’Neill have done for the families that battle Sanfilippo Syndrome. It started with the diagnosis of their daughter Eliza in the year 2013.
The O’Neill’s question as to why their beautiful little three year old was falling behind in her early development would lead them on a search for answers. After a lot of testing and an early diagnosis of Autism, they would learn that Eliza had a disease that was fatal and for which there was no cure. Eliza, had Sanfilippo Syndrome. The O’Neills would form a 501(c)3 non-profit organization which they named Cure Sanfilippo Foundation. A search of their website, curesanfilippofoundation.org, reveals that their purpose for creating Cure Sanfilippo was to “turn hope into action”. They do this by helping to bring about an increase in fundraising and through the elevation of awareness concerning Sanfilippo Syndrome. Also of the greatest importance is the support that they offer the families that battle Sanfilippo alongside their special children. Helping to bring about a cure for this dreadful disease will be done through accelerating research projects and promoting clinical trials that show promise. Helping to point families of children with Sanfilippo Syndrome in the direction of promising clinical trials is a big part of providing hope. Erica’s impression was that Cure Sanfilippo would be a big organization and she wasn’t sure that she would hear back from Glenn. It is a fact that the Cure Sanfilippo Foundation has gathered together an impressive group of individuals. This would include Glenn’s wife Cara, who is a Pediatrician who has served in both private practice, as well as in academic settings. As President of the foundation, Glenn is a busy guy but he would in fact reach out to Erica, even though they were in the middle of the holidays.
Here is how Erica described her reaction. “I was so shocked when Glenn immediately emailed me back and said he wanted to speak with Kirk and I. He wanted to know if we could talk New Year’s Day while they were headed back home from a vacation.” Like so many families that find themselves in the McKenzies shoes, they would soon find out that they were not alone. They were given the hope that would lift them up. They discovered that they were part of a community that existed worldwide. Part of Cure Sanfilippo’s goal is to join families together and to show them that they are part of an extended family of people that are there to support one another. The McKenzies would find out that there were others who understood what they were going through. Their feelings had been validated by others who were going through the same thing. As the weeks and months passed by, the McKenzies' understanding of what the Sanfilippo community meant to them would grow as they continued to connect with others. A huge part of that can be attributed to the work that Cure Sanfilippo does and Erica would give the organization their due credit with this, “The Cure Sanfilippo Foundation has been nothing but amazing and so supportive in this journey so far. I can’t help but thank them for everything they have done for us.” The goal for the McKenzies was, of course, to find some form of treatment that would help Reagan to overcome the symptoms of the disease. The O’Neills would have a big part in pointing the McKenzies in the direction of looking towards a clinical trial. Cure Sanfilippo Foundation has now raised ten million dollars through grass root efforts and has funded twenty-five research projects. They are helping to fund three different clinical trials that are treating over forty children. This is amazing!
Hoping for Hope
The O’Neill’s daughter was herself the recipient of a clinical trial performed here in the United States and Cure Sanfilippo would certainly encourage other families that battle Sanfilippo to get involved if at all possible. That is with the trials that provide hope for improvement in their children. It would in fact be in 2019 that an opportunity would become available for Reagan and the McKenzies and it would be a game changer. The McKenzies would find a clinical trial for Reagan that was different from the one that the O’Neills had participated in for Eliza. Even so, the O’Neills would be a great source of encouragement for them as they had led by example. It wouldn’t take place overnight and the family would have to wait a while into the new year but it would happen. Reagan would be accepted into a clinical trial that was taking place in a part of Europe and it would involve Gene Replacement Therapy. Traveling for the trial would bring with it a certain amount of difficulty but Kirk and Erica would do anything for Reagan with the help of those who would lend them support. They would travel any distance to help their daughter. Princess Reagan means the world to this family and they would do anything to fight for her “every step of the way”. Would it not be something if the trial was to stop Sanfilippo in its tracks? There are so many different rare diseases that affect kids. There are a lot of families that look for a clinical trial that would bring them hope and the possibility of their child overcoming the effects of a rare disease. So many different families in the Batten community come to mind as I write this. Erica would, in fact, feel very blessed to have had Reagan accepted into a trial of this type.
As parents to our son Benjamin, there have been challenges along the way. However, we feel that our lives have been made richer by having our son with us for all of these years. It would be wonderful if a parent with a child like Reagan could say something like, “My daughter had Sanfilippo Syndrome but there was this treatment that she received when she was much younger. Her condition was fatal but here she is, with us until this day!” Would that not be extremely special? This is the type of thing that I hope and pray to happen for people in the Batten disease community and all MPS communities. We cannot remove our attention from something like this, even with all that is taking place in this world right now! Reagan had her surgery on September the 18th of last year. There are so many parents of rare kids that hope for Gene Replacement Therapy to become a reality and for Reagan, it did happen! The trip overseas was crazy hectic but the procedure was performed. The good copy of the affected gene was placed in a virus that was injected into Reagan’s brain. The hope is that the virus traveled through the cerebral spinal fluid in order to be delivered to where the gene would do it’s work. The McKenzies stay overseas would be three weeks and it had to be quite an adventure for this family. They would have to make that trip four different times during the months of September through December of last year. What an amazing commitment but then, this is Reagan that we are talking about. The McKenzies would travel any distance, as many times as is necessary. They were actually supposed to go back in March of this year but were unable to travel because of restrictions related to the COVID-19 pandemic. Even so, Erica sees signs in Reagan that the good copy of the mutated gene has done it’s thing. How exciting!
Life continues for the McKenzie family although in some ways, life has had more twists and turns than they would have expected. Having a child with special circumstances of any type will affect the rest of the family for sure. This may be even more true when we are talking about a child with a rare disease like Sanfilippo. A condition that involves childhood dementia is so difficult to watch happen and it most definitely will have an affect on a child’s behavior. This, in turn, can affect everyone in the house. Erica has had bouts with anxiety and depression but she continues to fight her way through it. She has Reagan counting on her. Erica is not able to work at this time because of the extra demands that come with having a child like Reagan. Being her mamma is a special calling and Erica is up to the task. As far as Kirk is concerned, it hurts to see his baby girl being affected by Sanfilippo Syndrome but he is a fighter who will continue to fight for Reagan, as well as, his entire family. Once a winner on the baseball field, he’ll continue to compete in life while doing his very best. Together, they are a family living a family kind of life there in the state Georgia here in the USA. This writer is a tad bit jealous because he loves what he has witnessed concerning the positives that surround the culture in the Southern United States. Togetherness with each other and time spent with extended family and friends, life is often very sweet. Oh, and let's not forget little league baseball. Just as Kirk had hope for, he is continuing to pass on his love for baseball to Garrett who is now 7 years old. Much of the family’s off time during baseball season involves Garrett’s play on the baseball diamond.
Kirk feels that Garrett is more advanced at his age than he was when he was young. Kirk will tell you what his thoughts about Garrett are in his own words with this, “I honestly think he will be a great pitcher with him being left handed. I’ve been working with him on that and he’s very accurate and throws very fast for a 7 year old. I’ve never clocked him but I would guess he’s throwing somewhere in the ballpark around the 40 mph range.” That’s pretty fast for a kid that is only 7 years old. Not only is Garrett a great little leaguer but he is a great big brother. He loves Reagan and is very mature in giving help to her whenever it is needed. As for Reagan, Erica refers to her daughter as their “sour patch girl”. Here is what Erica has to say concerning that label for little Reagan, “First she’s sour and will hit you and then in a split second she wants to love on you and tell you she loves you and give you the biggest kiss. I couldn’t imagine my life without her.” I couldn’t imagine them being without Reagan either. Gosh, she is such a little doll and my hope and prayer is that they will have many successes with Reagan. This, because of going the distance for her to be involved in the clinical trial she is a part of. Reagan apparently has a guardian angel and that would be her great grandmother who passed into eternity on July the 25th of 2019. This was two weeks after the family got back from the screening visit for the trial.
Before her passing, Erica told her grandmother that she would need to watch out for little Reagan during all that they would go through. Especially if she were accepted into the trial. The McKenzies would end up getting the news that Reagan had been accepted into the trial on August 31st of 2019. I wonder if Reagan’s Nana was looking out for her! It’s very sweet what Erica had to say about the relationship between Reagan and Erica’s grandmother. Here is what she had to say, “Reagan still says Nana all the time. Even if there is nothing around she will look up and say “that’s Nana”. I swear she can see her and I find so much comfort in knowing she is with her.” There aren’t too many things that are worth more than being a close knit family. Even in one’s absense. One step at a time, we take each day as it comes to us. The McKenzies had no idea what the future held for them as they decided that their futures included each other. I am sure that they envisioned themselves spending time with family and with a community of friends. However, they had no idea, at the time, that they would be a part of a community that they had no knowledge of. That being the Sanfilippo Syndrome community and the community of those who care for kids with rare diseases. You all have so much in common with one another! The McKenzies are no longer new to this but are rather of the group that is able to come alongside those who are just receiving the news. They are also able to make others aware. These kids are so special!
Erica had this to say about their role in the community that they are a part of, “We aren’t afraid to talk about it now. Awareness is key. I also have been in contact with new families that are going through what we went through a year and a half ago. I love helping these new families understand they are not alone and understand that what they are feeling is valid.” I guess that this writer would have to say that he also feels that making people aware is important. But like I’ve said before, awareness yes but that wasn’t my first thought. It was that I was so taken by the details of these stories. Yes, a love that is profound and undying. That is what I see in each of these stories and that is why I take the time to put them into writing. I am so thankful for every opportunity that I am given and I am thankful for the McKenzies helping me to put their story into this blog. Reagan is a very special little girl and I wish her and her family all the best. Thanks for taking the time to read the Reagan’s story!
Blogger and Advocate
“I remember vividly, sitting in the waiting room at one of her therapy sessions and filling out a routine evaluation sheet. These questions are always hard to answer for a child that is behind or struggling but they seemed to be becoming more difficult each time I had to update them.”
Haidyn’s Mom and Advocate
Having sons is great but it is also nice to have a princess in the house. I have joked in the past that we were trying for a girl but we got a Benjamin instead. Everything had gone well with the delivery of our first two boys. They reached all of their milestones on time. In fact, our second son achieved many of them early. Perhaps we were lulled to sleep. Benjamin was different. His head and neck were floppy for quite some time after entering this world and he just wasn’t achieving the things that a normal baby does as they progress. It was apparent, early on, that we had a special needs child on our hands and we were resigned to that fact. With that, there were more appointments involved and finding the right pediatrician was crucial. Benjamin was sick a lot. Then as he grew, there was the need for durable medical equipment and difficulties with the insurance company paying for everything. I would find my sweet wife close to tears and totally frustrated upon coming home from the work day. Shriners hospital would eventually make him custom AFOs after our doctor refused to prescribe them. Our son may not have taken his first steps at the time that he did if not for Shriners. Genetic work was done while a patient there but the results would be inconclusive. Along the way, there were seizures and one instance of aspiration pneumonia. He was so sick and we could have lost him but he is with us to this day. Benjamin is 30 years old now and we have enjoyed most every day that we have had with him.
There have been challenges but his sweet disposition has endeared himself to us. He’s a special guy! Sure, he has had his down days but it doesn’t take much to pick him back up. Being Benjamin’s Daddy has been a rich experience overall and I feel that being his father has placed me in an honorable position. A lot of people turn away, or show little interest, when I show them his picture. However, the right type of person will have a more positive reaction. Benjamin is developmentally delayed and his physical appearance is a little different. His facial features are coarsely developed but I think that he is a handsome fellow. He has autism. His fine motor skills never fully developed and he is mostly non-verbal. I love kids (and adults) with special needs because of him. I believe that being Benjamin’s daddy has lended itself to a love that I have developed for kids who battle rare diseases. I understand that the families of these children will go through much more than we have experienced. A love that is profound and undying is on full display through the actions shown by these parents and caregivers. I first had to be made aware but now, these kids are the center of my attention. There has been a countless number of hours that I have dedicated to being an advocate for children that battle Batten disease. This I do by working with the families in placing their stories in this blog. I now have the strongest desire to include the families that battle Sanfilippo Syndrome, and other MPS disorders. This, as I continue to work with the Batten families that extend to me the privilege of telling their stories.
We didn’t know what Benjamin’s life would be like when he was born. We did know that his condition had been transferred genetically to him. This, because of the medical history in my wife’s biological family. The geneticist at Shriners had told us that his condition appeared to be degenerative but we have never been told that he is fatal. The situation is different for the parent of a child with a rare disease. Things generally go well with the delivery of these children. Milestones are reached, although small differences may be noticed. Over time, things go from bad to worse and eventually a diagnosis is given. Heartache creates pain that seems unbearable as the news is given. Rare families are blindsided by the reality of what has taken place, whereas what happened with us could have been expected. The way that parents of rare children regroup and take on the challenge of fighting for their special kids is something that I always like to draw attention to. Professional athletes and musicians entertain me when I have the time but these kids and their families are my rockstars! Over the years, Benjamin has displayed behaviors that are both cute and funny to observe. Each of these actions are reminders that he is a person with special needs. They are just part of who he is. He is still pretty adorable (Yes, I use words like that), even at age 30. Benjamin is who he is and we love him. For the parents that battle a disease such as Sanfilippo
Syndrome alongside their children, things are different. The behaviors that I see in their kids might seem adorable to me but for the parents, these traits are reminders that their child is suffering from a disease that is causing them to regress. These kids are so special and they are adorable even though there is heartbreak that is involved. I have noticed that most of the children that battle Sanfilippo have special faces. My son has a special face and I love the way he looks. I can’t help but to love the way that these other little faces look as well.
I started to connect with different Sanfilippo families over social media as the desire to follow their community took place. The desire to include these families in my writing is what brought this effort about. One of the families that I connected with is the Fowler family from the great state of Georgia! Caleb and Carrie Fowler are, of course, the parents of a beautiful little girl named Haidyn. Haidyn has Sanfilippo Syndrome. Carrie stated something during our initial contact that I will never forget. That is simply that “her daughter is a mess”. Not knowing what they had been through up to that point, I thought to myself something like, “Well then, Haidyn is a beautiful little mess!” However, the more that I have learned about what the Fowler family has been through with little Haidyn, the more that I understand what Carrie meant by that comment. And still, Haidyn is beautiful and she is worth every bit of extra effort that it takes to be her parents. It is with a great deal of gratitude that I am being allowed to have little Haidyn’s to be the very first Sanfilippo Syndrome family story that I write. Caleb and Carrie are going through all of the things that are faced by parents of a rare child like Haidyn. Undying love and complete dedication to their daughter’s cause is on full display. It appears to me that they are doing their very best to fight for others in the Sanfilippo community as they fight for Haidyn. This they are doing through fundraising and through a show of leadership in the community that they have found themselves being a part of. I am so happy to have met them, even if from a great distance. Here is Haidyn’s story and that of her dear family!
Playing Hard to Get
Just like it happens with most every story, this one begins with two people that meet and fall in love. Caleb Fowler and Carrie Creech both met one another while attending high school at South Paulding High in Douglasville, Georgia. The year was 2006. Caleb said that he always thought that Carrie was amazing but with that, she was also very popular and always had a boyfriend. Even though they shared mutual friends, Carrie had paid no attention to Caleb but that wouldn’t last forever. Graduation would take place and life would go on but Caleb would not forget about Carrie. It would be about six years later that their paths would cross again. Both had dated other people and Caleb had heard that Carrie had just come out of a long term relationship. He was also single and had seen an opportunity to connect with Carrie and still, she was not overly interested in having a date with him. Caleb would prove to be persistent and “would bug her enough” that she finally agreed to go out for dinner one night. For Carrie’s part she said that she had just seen an opportunity for some free food, stating that she is “always down to eat”. She perhaps wasn’t aware at that time but Caleb would prove to be much more to Carrie than just a meal ticket. The two of them would connect in an amazing way and they would begin a relationship. It would be one that would grow into a love that could last a lifetime. Besides an obvious physical attraction to Carrie, Caleb found that Carrie had an amazing personality and she was so easy to talk to.
Once Carrie really took the time to get to know Caleb, she began to see qualities in him that were very appealing. They also looked great together! Caleb and Carrie would not only become best friends but they would also become man and wife! Life together began in the usual way with both Carrie and Caleb working full-time. Carrie had actually brought a daughter from a previous relationship into their own. Braelynne, who is now 12 years old, was so excited that her mom and Caleb were to be married and they would quickly become a family of three. Braelynne would grow to be a jewel of a young lady and her presence in the family was one that was treasured by everyone. Caleb would quickly become this young family’s rock. Working in a family owned business, he was a third generation employee at the D.G. Fowler Electric Company. Caleb would rise to the position of Projection Manager at the company that was now owned by his father. Things were shaping up and life together was beginning to look like one that was full of love and promise. Certainly, it was that. It would be in the early months of the year 2014 that the Fowler family would receive news that took them by surprise. Carrie was pregnant and this surprise was met with the approval of everyone. In other words, they were all excited and no one more than Braelynne. She would soon learn that she would have a little sister to love on and to help mom with. Things were going to go from good to great!
Everything would go well as the months passed by and the excitement over the delivery of the baby grew. This as mom’s tummy continued to grow as well. However, there was a different type of excitement that would begin to take place as the delivery day arrived. It was the beginning days of 2015 that the big day was drawing near. Carrie was previously shown to be one who carries smaller babies and her doctor considered her expectant baby to be a higher risk pregnancy. As a result, the doctor wanted to induce labor at Cobb Hospital in Austell, Georgia. Carrie’s baby would be delivered on January 9th of 2015, but it would not be without complications. It was during her labor that Carrie’s blood pressure would plummet and the baby’s heart rate would drop with each contraction. This would obviously turn a normally joy filled experience into one that is quite scary. Caleb and Carrie’s baby girl, who they would name, Haidyn Grace, was born at 9:11 a.m. This brand new princess had the umbilical cord wrapped around her neck and that caused her to be purple in color at birth. She would weigh in at a lower weight of six pounds and two ounces and she was not breathing well. The doctors would allow Carrie to hold her baby for about thirty seconds and then, she was taken to NICU. Little Haidyn’s vital signs were all good but she was fighting to breath on her own. Haidyn Grace was said to have underdeveloped lungs and she was placed on a ventilator. Her little entrance into this world had begun in dramatic fashion. It was too early to think about what the future may hold for her at this point. Everyone just knew that she needed to get better. Haidyn would improve. She was on the ventilator for seven days and in NICU for ten days. It would then be time to take Haidyn Grace home.
I'm always curious to know what the experience is like for the mom I am writing about as she holds her infant son or daughter for the first time. The bond that develops between a mom and her baby begins to take shape as the baby develops during the pregnancy. Giving birth is a special experience and being able to hold your baby for the first time is one that is like none other. Carrie would tell me that the experience of holding baby Haidyn for the first time was both beautiful and scary. She explained her feelings with this, “In that moment I loved her fiercely and immediately but I also had no idea why she was struggling. Those ten days were so long and we weren’t able to hold her in the NICU for the first two of those days because she would become so upset and her vitals would take hours to return to normal after an upset.” Just as any set of parents would be, Caleb and Carrie were excited to be bringing Haidyn home for the first time. The doctors had found her to be healthy enough to go home after the short stay in NICU. Carrie stated that they were overjoyed to be bringing Haidyn home healthy and ready to grow. There is no way that this young couple could have known what else the days and months ahead would bring. There would be a lot of love that was poured out on Haidyn. This, as she brought challenges that never could have been expected. They lay in wait for her future even as she continued to grow. One thing was for certain and that is that Haidyn was a beautiful baby girl. She, along with her big sister, were both a great source of pride and joy for Caleb and Carrie. Haidyn would grow and develop normally in the first months of her life but a problem would begin to show itself at around eight months of age.
Carrie noticed the issue as Haidyn had begun to pull herself up and walk along items in the house. Haidyn stood on her tiptoes as she walked and Carrie felt that to be a little different. Of course, the issue would be discussed with the pediatrician and as one might guess, Haidyn’s parents were told that this was normal. They were assured that Haidyn would bring her feet down when she was ready to do so. Carrie stated that Haidyn did eventually bring her right foot down but her left foot still remained very stiff and arched. Through their persistence, Haidyn was finally referred to see a physical therapist in order to have the issue evaluated. MRIs would be performed in order to rule out cerebral palsy or spinal issues and x-rays were done to take a closer look at her leg. In the end, Haidyn would be said to have an Achilles tendon contracture and it would be around 18 months of age that she would undergo surgery. According to Carrie, this was to “cut and stretch” the tendon so that Haidyn could bring her foot down and walk correctly. The Fowlers would begin to experience a series of issues with Haidyn that most would consider to be normal challenges that could be met.
Troubles for Baby Haidyn
Several things would occur with their princess that considered individually, would be something that could be expected in early childhood development. However, what if several issues continued to mount, one on top of the other? It was around eight months of age that Haidyn started to have issues with consistent ear and upper respiratory infections. To make matters worse, it seemed that antibiotics never cleared up this issue. This would require another surgery, albeit one that is commonly done in children. It was about a week before the surgery on her tendon that she would have tubes placed in her ears. She also had her adenoids removed during that surgery. Sadly, the problems in this area continued and as a year passed, it was advised that a sleep study be done on Haidyn. The findings of the study would be that she had severe sleep apnea. How discouraging this must have been. This perfect princess had already been through so much and now it was found that she had issues with her sleep. Haidyn would go on to have her tonsils removed and she would also have surgery to have the tubes placed in her ears for the second time. As a year had passed, it was noticed that her adenoids had grown back completely. Carrie said that even the ENT doctor was shocked that this had happened. It was after that surgery that things would begin to calm in that area of Haidyn’s health but the problems did not go away completely. She still had mild sleep apnea and also, there were occasional ear and upper respiratory infections.
This little lady was having a rough go of things but there was no reason, at this point, to have anything but a positive attitude concerning her future. And still, the problems would continue to mount. It would be at about two and a half years of age that Caleb and Carrie would notice something else in Haidyn. It seemed to them that little Haidyn had an apparent speech delay. She just didn’t have the vocabulary that one would expect at that age. The pediatrician felt that this was due to all of the ear infections that Haidyn had suffered throughout her young life. It was thought that the build up of fluid in her ears had obstructed her ability to hear. Carrie said that a screening of Haidyn’s hearing was performed but she would not cooperate and so, the testing revealed nothing. They would also have Haidyn evaluated by a state funded therapy service named Babies Can’t Wait. However, she would not qualify because she did not score low enough on the evaluation. It was too early to attempt to tie together the issues that Haidyn was experiencing. Certainly, there are other young children that have to overcome obstacles. At this point, The Fowlers still remained positive and Carrie said as much with this, “... as positive thinking parents, we hoped it would get better with time. I was not overly concerned with major health issues at this age because these symptoms were fairly common in many children, or so I thought.”
One thing was for certain. This family had a special case on their hands but it was not yet time to pin all of the issues to a specific condition. There would be more to follow and another issue that had already plagued Haidyn was related to her gastrointestinal health. Poor Haidyn had a problem with diarrhea and according to Carrie, nothing eased the problem. So many problems with one little person already and this all had to be of growing concern. Carrie would take Haidyn to see a GI doctor where Haidyn would be examined. Many things were ruled out and the only finding that came from the testing would be that Haidyn had a mild dairy allergy. Her parents would remove dairy products from her diet and it did help quite a bit. But still, as Carrie stated, Haidyn would continue to suffer from this issue, even to this day. The problems didn’t end there. It would be around the age of three that Carrie started to notice other things in her little girl. Carrie said that in addition to her speech still being delayed, Haidyn appeared to be having a sensory processing issue. She also had an eye that seemed to be extremely lazy.
What would it be like for any of us if we had all this to deal with in one of our children? Our attention would definitely be focused on that child and we would be on the alert for other things that may arise. I have said it before but it is worth repeating here. A child’s life should be filled with laughter and innocent fun as life’s lessons are learned. This should have been the case with Haidyn but the fact was that she was also having bouts with fear and separation anxiety while at daycare. Carrie stated that it was extreme and something that could not be explained. Why would a little girl be suffering with such a thing? The issue and how Haidyn was able to do at daycare became a real problem. This caused Carrie to make the decision to leave her full-time job. She instead became a stay at home mom and Haidyn’s full-time caregiver. Carrie would begin to do daycare to aid in making ends meet and having other kids around would help to reveal other things that would be of concern. She would take in children that were of the ages 4,2, and 18 months. Having these other children around helped Carrie to see that there were differences between them and Haidyn. One thing that really stood out was that Haidyn’s speech was behind that of even the two year old that was being cared for. Also, her lack of understanding and the lack of ability to hold a conversation stood out. Carrie further describes what she was seeing with this, “She loved the other girls and was so good with them, but I noticed that she did not play appropriately. She did not seem to understand pretend play at all and she would engage with them but also played or kept to herself. Her anxieties continued to worsen as well, whether it be at home or out in public.”
It was then that the summer months of 2018 and the issues with Haidyn were continuing to mount. It would be in August that Carrie made an appointment for a developmental assessment. She wanted to discuss all of her concerns with Haidyn’s pediatrician. With Haidyn, many of the issues that were affecting her had shown no signs of progress and in some cases, they were actually getting worse. Carrie said that her doctor was very patient while listening to all of her concerns, and there were many. While there, the pediatrician examined Haidyn and she would discover that she also had a small heart murmur. Was this an issue that was related to a larger problem? There were so many different things to deal with at this point. How could one little girl have so many concerns going on at one time with her health and development? I was amazed to see the number of referrals that Carrie was given at the end of that appointment. Here is what she was given for Haidyn, “We left that day with referrals for cardiology, ophthalmology, therapy for speech, physical and occupational, and testing for autism and sensory processing disorder.” Oh my gosh! Can you imagine having to set up so many appointments at one time? That would be enough to make a person’s head spin but this is Haidyn the princess that we are talking about. Carrie had no other choice but to forge ahead. That September they began therapies for Haidyn and they enrolled her in early intervention preschool.
Searching for Solutions
Carrie and Haidyn had attended all of the appointments that they were referred to and the outcome of each one was varied. The cardiologist had not been alarmed by Haidyn’s heart murmur and would rule it as being innocent. She was diagnosed as having weak eye muscles by the eye doctor and Carrie was given a prescription for Haidyn to be fitted with glasses. The bigger picture for Haidyn’s total condition was also dealt with. It would be in October of 2018 that the Fowlers would receive an initial diagnosis for Haidyn. It was thought that there were three different things that, all combined, were working against her. Haidyn was diagnosed with severe autism, global developmental delay, and sensory processing disorder. Carrie shared her reaction and talked about her guarded optimism with the following, “I was not completely shocked but surprised that the autism diagnosis was labeled severe. Haidyn didn’t seem like the average autistic child but I also knew very little about autism. We were thankful for answers to our many questions over the course of three years and had a positive outlook with the help from school, educating ourselves for her future and therapies.” These things were all issues that could be dealt with although they would impact Haidyn’s quality of life. Even so, she was so loved by all who knew her. Haidyn’s family would do what was needed to make sure that she had the support structure that was necessary.
The Fowlers would see some positives happen in the following year. Carrie said that they would push ahead with the therapies that showed promise. This would leave them feeling optimistic even though “public outings and get-togethers were difficult for and with Haidyn.” This could be expected with a child that has autism. The spectrum of autism is so wide and one never knows with autistic children. There is one thing about kids with autism and that is they get accustomed to set routines and anything that upsets that routine, upsets them. This would happen for Haidyn as July of 2019 rolled around. Things would change for the family and Haidyn as a move would take place. As Carrie stated, everything changed in Haidyn’s world overnight. This is how Carrie put things to me, “I knew we would be in for a challenging time after everything she had ever known, changed overnight. Her normal routine was completely thrown out the window and we all know that special needs children thrive on routine and struggle greatly with change. Her family situation was completely the same. Mom, and dad, and big sister were there and she was still seeing her therapist at the same location. This being said, her surroundings were completely different and she had started to attend a new school in August. Carrie said that she wasn’t surprised that she had seen regression in Haidyn’s behaviors. And still, she felt assured that things would return to where they had been “with time and consistency.”
Carrie had remained patient and she had dealt with things as they came their way. Haidyn was a challenge but she was so loved as the little princess in the house. The weeks turned into months and it seemed that little if any progress was being made. The summer months had faded into fall and the advent of winter was on the way. Both Caleb and Carrie felt burdened over Haidyn’s issues and knowing what to do was escaping most everyone. Here is what Carrie had to say about the feelings that she was experiencing, “Around December, I started feeling extremely heavy hearted for Haidyn. I was unsure as of why exactly but something seemed wrong. Therapies showed little progression, school was still a nightmare despite wonderful teachers and staff that loved her dearly, behaviors were draining for her and us as a family. She seemed to be losing more speech, struggling more physically to walk,and move and with clumsiness.” A mother’s intuition is most often, spot on. Carrie knew that there was more going on than what had been thought but what was it? Why was it so hard to find solutions? The things that would help most any autistic child were not working with Haidyn. To this point, they had received a lot of help in trying to determine what would help Haidyn but improvement was not showing itself.
Therapy appointments were a challenge. Carrie remembers being in the waiting room, trying to update Haidyn’s information. The questions were becoming difficult to answer. There were so many different things both behaviorally and with Haidyn’s health that needed attention. What was the priority? What was the most important thing to address? What were they going to try next? There was more that was going on with Haidyn than just autism. Yes, the spectrum of autistic behaviors is wide but there had to be more pieces to this puzzle. More pieces than those that were contained in the box that Haidyn’s doctors had her in. Carrie wanted to see Haidyn “struggle less and thrive more”. Improvement in any area would have been a cause for some renewed optimism but there was none. This mom would start to extend her search for answers as she spent each day at home with Haidyn. With the following, Carrie stated where her search began and what she was beginning to conclude, “In December and into February I began diving in to all of the autism research, books, documentaries, Facebook pages, parent insight and more. I wanted to understand her more so that I could help. I completely agreed that her autism was severe at this point but the more I researched, the more I felt that she wasn’t an easy description of severe autism. Something still seemed... different.”
It makes sense that parents are the best advocates for their own children. After all, this is their own flesh and blood, their own child. Their kids get the priority that otherwise might not be given by others. Is there something to a mother’s intuition? Of course they would know if something didn’t make sense. That is, if something was being missed. The stress was there and with that, Carrie questioned herself but her determination moved everything forward. She described that time in this way, “During this time frame I found myself diving down a deep rabbit hole and I really wasn’t sure if I was losing my marbles due to stress and anxiety or if I might be on the right path. I started questioning her medical history and went through, dissected and fact checked every single test, lab result and diagnosis she was given from birth until the current date.” Nobody but a mom will take the time to dig into the details the way that Carrie did. No one knew Haidyn like she would. Carrie said that she researched every type of medication that Haidyn had taken and every type of vaccine that she had received. She wanted to know if there were any side effects that may be affecting her daughter. She started taking a more holistic approach to dealing with the symptoms in hopes of bringing about positive changes in Haidyn’s health.
No One Like Mommy
Carrie’s search for answers became an obsession. Her own actions would prove to be pivotal in solving the puzzle that was her daughter’s health. Doctors had not yet thought about the fact that Haidyn may be affected by a genetic disorder that caused the regression of skills. They had simply given her a label. It was Haidyn’s mom, Carrie, that started to think in these terms. Supported by a loving husband that listened and believed in her, Carrie continued her search, looking into the area of genetics for a possible cause. She explained in this way, “I began researching genetics and how your genetic makeup can play a huge role in everything about your body and what you are affected by. I hardly slept and hardly ate because I became obsessed with trying to understand and find a grasp to hold on to with helping Haidyn. I’m thankful my husband always trusts my instinct and my judgment because he allowed me to sound like a crazy lady, spewing information, theories, questions and hypochondria for several months. He never once doubted me.” I have made the statement in the past that there is no love like a mother’s love. After all, a mom carries her child in the womb for nine months and there is a maternal bond that is stronger than any other. Certainly, there are some great dads out there and Carrie had one of those by her side. Determined but not completely sure, Carrie looked for the help from a higher source. She stated so in this way, “I did start to doubt myself though and thought maybe my anxiety was winning. I prayed one morning in early February, on the way back from taking Haidyn to school and asked God to please keep me on the right path if there is more to what’s going on with my girl.” You can take away from this the fact that this mom was looking for all of the help that was available to her. She explains further, “All I wanted was to either help her or find acceptance and release the heaviness that hovered over me.”
Carrie was given the opportunity that she had sought as another doctor’s appointment approached and this would lead to the big turning point. It would be in February of this year that little Haidyn was scheduled for a wellness check. This was Carrie’s opportunity to discuss her concerns with Haidyn’s doctor but as she did so, they weren’t seen as being completely valid. This is what she had to say about the visit. “We discussed some of my concerns and I was, kindly, brushed off and also reminded that my little, thick and tall girl was considered obese. I was also questioned about my request for a referral to see a geneticist and have testing done to check for any underlying conditions.” According to Carrie, many still find genetics to be experimental. Even so, Haidyn’s doctor reluctantly provided the referral that they had sought and that would eventually lead to some findings that would alter their lives forever. On March the 20th of 2020, they brought little Haidyn to see the geneticist for what would be an entire two hour visit. Carrie said that they discussed family medical history along with all that they had experienced with Haidyn. The doctor examined Haidyn while asking one question after the other. One of the things that came up as the questions were being asked was the fact that Haidyn had a great aunt that died in her teens. This aunt died of something called Hurler disease. Hurler is one of the forms of MPS (Mucopolysaccharidosis) disease. Hurler is MPS 1. This falls into a larger group of diseases which are called lysosomal storage disorders.
To explain in simple terms, the cells within our bodies contain something called lysosomes. Normally, lysosomes have within them an enzyme that is responsible for waste removal within the cell. In the case of a lysosomal storage disorder, the key enzyme is absent and that ends up wreaking havoc on the body. This is especially true as it happens within the brain. In this case, wastes within the cells that are normally disposed of are instead, stored up within the cell. Oh, my gosh! That leads to real problems. These diseases are rare because both parents have to be carriers of the defective gene that causes the disease. The same gene! Carrie knew the name Hurler disease through family medical history but neither her nor Caleb knew what the disease consisted of. Carrie stated that fact in this way, “We knew nothing about Hurler and had never considered it to be related but felt it worth mentioning due to the family, medical history questions asked.” The doctor asked to see pictures of sweet Haidyn from her birth and then each year after that. One thing that the doctor kept mentioning was the fact that Haidyn’s facial features were coarse. She also mentioned how Haidyn’s medical history fell in line with the family of diseases that I mentioned above. That is lysosomal storage disorders, also known as metabolic diseases. Knowing what Carrie knows now, she believes that the doctor was on to something at the time of the appointment. As she stated, “I believe the geneticist knew when she first saw Haidyn, that she would be diagnosed with a form of MPS. I, on the other hand, had zero idea what she meant by coarse facial features and metabolic disease did not sound too intimidating at the time.”
Carrie had already been doing research on her own and the information given to her by the doctor gave her more to look into. Haidyn’s mom is the type that researches things of this nature, especially with wanting to know what she was up against with Haidyn. Most any parent will be curious to know what the facts are in order to see where their child stands and to know what they are looking at as a family. Most of all, Carrie wanted to know, is this what is taking place with her baby girl. She explains, “That night when we got home, I began to look up metabolic diseases and then followed through with researching the diagnostic codes listed on the paperwork from our appointment. I came across Hurler Syndrome and Sanfilippo Syndrome. They are both just about the same diagnosis, in regards to symptoms, how the disease works and the fact that they involve a missing but crucial enzyme.” The only difference, where it concerned Haidyn’s health, was which defective gene it was that she had inherited. As Carrie took the information and continued her research, she was faced with the truth concerning sweet Haidyn. All of a sudden, the answer was right there on the computer screen. She was all at once shaken by the reality and she explained with this, “When I researched further and found pictures of children, along with a list of symptoms and signs, my heart shattered. I knew it in my heart that my baby would be diagnosed with one of the two. I immediately understood the term, ‘coarse features’, because Haidyn looked just like every other child with these diseases. Her medical history fell in line to a T.”
Carrie said that for Caleb’s part, he didn’t want to know everything that they might face without having the diagnosis. He instead, wanted to process things more slowly. Because of the research that Carrie had done, she was certain that Haidyn had a form of MPS. Carrie feels that it was at that time that she began the grieving process. This, before they ever received the confirmation. It was with much sadness that the day would come when Haidyn’s condition would be confirmed. Parents usually do not quickly forget dates like the day that the Fowlers received Haidyn’s diagnosis. Three weeks later, on March 25, 2020 at noon time, Caleb and Carrie received the news that sweet Haidyn Grace had Sanfilippo Syndrome Type A. Hearts were shattered one by one as each close family member and friend received the news concerning Haidyn. This took place over the course of a few days. Carrie felt that it was painful to grieve within herself but it was even more difficult to have to share it with others. “Heart shattering” is the term that she used repeatedly. She described the response of others in this way, “Everyone is heart broken and wants to be there for you and you are heart broken wanting to be there for them. All because one, beautiful, innocent and deeply loved child was given a fatal diagnosis and life expectancy of up until her teenage years.” This beautiful little girl that was loved by so many was now not expected to make it past her teens unless progress was made towards a cure. The results would be brutal even if they would take place over the course of a few years. Haidyn’s skills had already begun to be diminished by what they had not yet known. Now, the family knew that at some point they would be taken away completely. All of them! The disease is sometimes referred to as being a form of childhood Alzheimer’s and so, along with Haidyn’s physical abilities, her mental make-up would be greatly affected as well.
Grief Turns to Action
This writer generally researches subjects that he writes about and I did do some research on MPS disorders for this story. It is fascinating how the human body functions at the cellular level. It is also of interest to learn how the entire body is thrown into chaos when our bodies don’t function properly at that level. But then, at the human level, it is completely disheartening to know how families are affected by a condition like Sanfilippo Syndrome. These kids are precious and they are ones that will melt a person inside. That is if a person takes the time to care and to pay attention. People need to pay attention to the plight of families that battle rare diseases alongside these special warriors. People with special needs need to be placed in positions of honor within society and the effort to make their lives better needs to be put forth. And then, kids with rare diseases need to be honored above any others. We need people to place emphasis on ethical forms of treatment and we need cures for these conditions. It all seems overwhelming but we need to try. I am thankful for the research scientists and people in the medical profession that are making a difference. Clinical trials do happen but for the families, they can't come fast enough. I do know what it is like to be the parent of someone with special needs. Having a child that battles a disease that is rare and incurable brings things to a different level of difficulty. The greatest level of love and empathy needs to be felt as we extend ourselves to these families in whatever way is possible.
Just like those that battle Batten disease, the families that receive a diagnosis for their child like Sanfilippo Syndrome find out that they are not alone. They discover that they are part of an entire group of people that exist worldwide. They all at once learn that they are part of a family that they previously knew nothing about. Cure Sanfilippo Foundation is an organization that provides mentorship, knowledge, love, and support to families that have children with Sanfilippo Syndrome. They also raise awareness and funding for clinical research and trials. Cure Sanfilippo is working towards a cure and as with other families, the Fowlers have partnered with them in bringing about results. Sometimes, and especially in this case, the best way to handle one’s own grief is to jump into action and that is what Caleb and Carrie have done. Speaking of that, as this story is being written the Fowlers are preparing to jump out of a perfectly good airplane in order to raise funds for research. Don’t worry though, they each are planning on wearing a parachute. Almost immediately, the Fowlers created a Facebook page called “Haidyn’s Hope - A Cure for Sanfilippo Syndrome”. As Carrie would tell me, the purpose is, “to help better raise awareness and funding, and to share the good, bad and the ugly of our journey.” With the following, Carrie speaks concerning the point that I was trying to make about how some handle their grief through taking action. Here is what she had to say, “Caleb and I have many goals and dreams for our family's journey with Haidyn. Some ask us how we jumped right in and became so transparent during such a devastating time for our family but we are all fighters. We advocate for what we are passionate about and I guess in a way, it helps us process our emotions. We would both drown in depression if we sat around and just accepted this fate for our baby girl. So, we chose to light a fire and we made a promise that the world would know about Haidyn, Sanfilippo Syndrome, others like her and rare disease awareness.”
As one could imagine, there are many difficult days for the Fowlers but there are also days that are filled with good times, as many sweet memories are being made. Haidyn is precious and she is certainly adorable. Seeing that and knowing how her body is being affected brings heartache but she also helps to create a love that is like none other. There is a bond that is being formed with Haidyn that could never be broken. You wouldn’t want it to be! I’ll let Carrie explain things in her own words, “We have many good days but at times we both find ourselves barely coming up for air as reality hits and we are reminded that all we are doing is for our daughter. It’s unimaginable and at some moments still seems surreal and overwhelming. Despite the bad days and all of the feelings that come with it, we choose to fight, find the little glimmer of light, and give Haidyn the best life we possibly can. We made a promise to her and ourselves that no matter how much she struggles, she will always know that she is immensely loved and surrounded by the same amount of happiness and joy that she brings to our lives.” Can you understand why it is that I am drawn to these families and their stories? The details of a type of love that is profound and undying. The ways that these kids affect us all if we allow ourselves to become vulnerable enough to let it happen is unbelievably amazing (I am speaking of those of us that are not necessarily a part of the immediate family).
The Fowlers live in Cedartown, Georgia here in the USA. They are wanting to build a home right next to Caleb’s parents but they have decided to slow things down a bit. This, because of Haidyn’s recent diagnosis and wanting to navigate the journey that they once knew nothing about. I am certain that they will get there. Did I forget to tell you that Braelynne is an excellent big sister to Haidyn? Nope! I was saving that for right now. Carrie stated that daughter number one is the best! She’s understanding and helpful with Haidyn. Braelynne knows what they are up against as a family and she chooses to be unselfish and supportive in the effort that it takes to be a rare family. Caleb and Carrie are grateful to her for this! Let’s also not forget to mention that Caleb is an excellent husband and daddy to both of his girls. He’s a great provider and a source of strength for Carrie. The two of them are best friends. May that never change! Whatever course of Haidyn’s life takes, one thing is clear. Her life will affect the members of her family like no one else’s can. In fact, Haidyn’s life has already impacted their lives and their thinking about the things that are important. Carrie is so well written in her own right. Here is more of what she had to say, “Having a child diagnosed with a rare and fatal disease has changed our lives in so many ways within a few months. Our views, our outlooks on life and our dreams. We truly appreciate each moment here with each other, our girls and our loved ones. The smallest moments seem to stand out and trump the big things that used to matter. We choose to make memories more and buy less. We choose to love harder, always be grateful and complain far less. We choose to conquer fears we once had because nothing is as scary as your child having a fatal disease. We are trusting God more than ever, even when we can’t find understanding in His plan for Haidyn. We continue to have hope because without hope, there is nothing.”
I think that we all seek to have a settled, somewhat ordinary existence. We want to pursue the things that will make us happy. Most people want to have a family and they want to be able to provide for those that make that family up. We pursue leisure activities that bring pleasure and involving our kids in those things brings happiness and lasting memories. We do not go into the whole thing expecting there to be troubles like those that are faced by a family with a rare child. All are special because they have to deal with life as they work through the heartache. I have said so many times that the parents of kids with rare diseases amaze me. This, because they most always bounce back from the despair that they feel over having been given the news. They battle back and then they do the very best that they can for their own child. Sometimes, in taking up the work of an advocate, a rare family will end up doing things that benefit others. Caleb and Carrie have already given this their very best as they do the best that they can for Haidyn. They have given it their all and they have made a difference. Carrie explains, “In such a short time we have already started down a wonderful path of raising awareness. We’ve seen our family, friends and even people we hardly know or don’t know at all come together to share our journey, help raise awareness, educate themselves and help us raise funds for clinical trials and treatments. We have been able to educate not only Haidyn’s medical team but other medical professionals, therapists, educators and more about Sanfilippo Syndrome.”
The Fowlers would give anything to see Haidyn completely healthy and whole. You can see why she would be adored by anyone who knows her. This is another special family that is doing their very best under very trying circumstances. They feel the love that people have for them and their daughter Haidyn. Sometimes, you have to look for the positives in a situation that is at its base level, something really negative. The big positive for the Fowlers is to see how Haidyn’s plight brings the good things in others to the surface. Carrie explains, “We have felt an overwhelming amount of love, prayers and heartfelt gestures for not only Haidyn but our entire family. This journey is devastating and I think our hearts will always be broken, but it has shined a beautiful light in our lives as well. Our dream as a family is to live a life in honor of Haidyn. She is too beautiful for this harsh world around her and we hope to shed beauty and light to everyone we encounter, in honor of her.” The other positive is just having time with Haidyn. I love my son with special needs to the moon and back. We have been spoiled by the time that we have had with him. Time spent together is even more precious with someone like little Haidyn. She is a special one and she is worth all of the extra effort that it takes to care for her. Awareness, yes, but drawing attention to the love stories that are created by these dear families as they care for these children. It’s worth every bit of effort that it takes. I wish the Fowler family all of the best with little Haidyn. Another one to melt your heart, that is for sure! I really appreciate this opportunity and I look forward to having more of them. Welcome to my blog Sanfilippo Syndrome families, as well as, those in the entire MPS community.
Blogger and Advocate
“The EEG and Neurologist visits are all kind of a haze to me. We were in this ‘nobody knows anything’ cycle. Seems we would never get any solid answers, just maybe it’s this, it could be that, etc.”
I am sure that some are tired of me posing the question. Is it them or is it us? I originally asked the question wanting to have a better understanding for myself. When it comes to kids that have a rare disease such as Batten, is it they themselves? Is there something different about them? This, versus a child that is free to develop normally, without being hindered in any way. Is it us in that knowing their plight causes feelings to develop in us that are deeper than any other? I have been the proud parent of a person with special needs for thirty years now but when it comes to kids with rare diseases, there was much more that I desired to know. Going through something like what these families go through. That is something that you have to experience first hand in order to completely know the answer.
Family is so important. This is true for different reasons throughout the aging process. Generations come and go and we are connected to each other in different ways as we travel through time. First being parents and then grandparents. Perhaps we are a favorite aunt or uncle in the family. Being first time parents, or even young parents of more than one child, is an experience that most often makes being together complete. Looking forward to all that life entails and experiencing all the events that will take place, that is what we live for. As men and women, we work to support our families. While what we do outside the home sometimes brings us pleasure, the work that we do is done to support the experience of being together. Looking on as we watch our children grow and achieve each milestone in life brings joy that can only be felt through that experience. If everything goes according to plan, we move from the roll of parent to that of being a grandparent. Grandparents are cool! They are the most funnest people to be around when you are little. Their houses are the best ones and they are the most fun to be at. There are many adventurous things to do at grandpa and grandma’s house. Searching through the closets or swimming in the backyard pool. Maybe there is a basement that you like to go down into or or a huge tree that you enjoy climbing in. No matter what, you hate when it’s time to leave on any given day but you know that you will be back.
Mom and dad are great but your grandparents are the coolest people ever. There is major spoilage that often takes place with them and you love every minute of being there. As grandparents, it’s pure joy to have these little people in your lives. You worked at being the best parents that you could be and now you have been rewarded with having these little people in your life. You don’t mind answering all of the questions that are asked. In fact, you look forward each day to the interaction with your grand-kids. It is so true that it is much better to give than to receive and here is your opportunity. You give and you give. From your time and your resources. Those tiny faces looking up at you is a great source of pride and having little people in your life makes life all the more worth living. Time spent with grand-kids is time that is well spent and the time spent all together is something that is precious to everyone. Being together, different generations sharing in the experience of being a family.
No matter where you are in the generational experience, having children in your life is special. Whether looking at them as they take in all the wonders of the world they are now a part of, or watching with pride as they achieve the things that you had hoped for. This is in large part, what we were put on this planet to do. Being a family. When things go well, we enjoy those things together. It is also true though, when tragedy or difficult circumstances arise, we experience those things together as well. The heartache is shared as feelings are experienced by all. Some are asked to go through things that are not experienced by the many and that puts people in a class that is unique, even if it is something that is not desired. Let’s get right to it. What if that child, and sometimes more than one, is diagnosed with a disease that is rare and also fatal? All at once, that which is experienced together is something that no one could have expected to happen. But then, it does happen! Things begin to unravel and that brings despair to everyone that is involved. This was not expected and your life is all at once, different than what might have been imagined. Despair will eventually give way to determination, even while the heartache remains. One foot is put in front of the other and people press on. Even if only for what is best for that rare child that has been placed in your trust.
Is it them? Is it us? I mean are these rare kids no different from your average child? Is it merely that knowing what they face brings out feelings in us that are like none other? I tell you what, I think that both are true. It is them and it is also what they do in us. They certainly do produce feelings in us that run very deep but watching them and learning how they deal with their own circumstances, that often causes us to be amazed. How they find joy in living even when things are difficult. How they bounce back from setbacks in their health and do so with a smile. They teach things like knowing what is important in life. Can you smile when it becomes difficult to walk or even move? Can you find joy in living when you no longer have your eyesight? The bond that is created under these kinds of circumstances is stronger than most any. Knowing what these kids go through produces feelings in us that are like none other, and knowing that time together may be limited intensifies those feelings. As the disease progresses, so does the heartache. The feelings intensify but you just take everyday, one day at a time.
Some, if not all, would be willing to trade places, just to see their rare child well. It doesn’t seem like anything good can come from this experience and perhaps, that is true. This experience, however, produces a strength of character that can’t be erased and memories that could never be forgotten. They produce a type of love that is profound and undying and these children and their families need to be honored because of all that is experienced. I may frequently repeat the things that I have already stated but I do it for good reason. This next story is about another family that faces a rare set of circumstances. They are not ones that had been expected. They are finding strength in each other through an experience that is shared. They are being strong in something they never would have expected because after all, they have no other choice. There is joy in the midst of the struggle, and they are experiencing that together as well. Let’s begin their story.
Plans Quickly Fade
Sean Bruner and Trista Stephens met for the first time while attending a friend’s wedding. Sean was a guest at the wedding and Trista was the maid of honor. That was on April the 3rd of 2011. The furthest thing from Trista’s mind at the time was that of getting into a serious relationship. This because she had just gotten out of a relationship and had wanted her own space while she considered her future. Events don’t always happen as we plan them and that would be the case for Trista as she met Sean. They saw something in each other during that event and that sparked an interest in one another. They exchanged phone numbers and would eventually talk over the phone about a week later. Trista had left a return voicemail and Sean, being the romantic that is, still has that voicemail. It was in that voicemail that Trista had explained to Sean that she had just gotten out of a long term relationship. She went on to tell him that she wanted to be friends only at that time. To keep things safe, Trista invited Sean to a Birthday party that she would be attending and Sean accepted the invite. They spent time together at that party and Trista’s plans for just remaining friends with Sean quickly faded not long after that.
Trista just couldn’t take her mind off of Sean as she had seen things in him that were genuine and very appealing to her. They seemed to really hit it off together and would soon go on an actual date. That date was at the Island Way Grill in Clearwater, Florida. It would soon become a favorite place for both of them. At that time, the conversation just seemed to flow and the two of them connected in a way that would be lasting. That first date would be the launching pad for a life that would be spent together. Sean said that the conversation between him and Trista was “so easy”. He included the fact that the waiter would have to come to the table a third time before they placed their order. First things first! After that first date, they were together all of the time. It wouldn’t take long for them to realize that this was it for both of them. True love. Trista stated that she had just gotten into an apartment of her own and Sean would spend a lot of time there. The two of them would search for a condominium that they would share as Trista’s lease came due a year later and they would be engaged to be married in July of 2012. This was for real!
Sean was not one to do things half way and so he wanted the engagement to be something that would be remembered. Of course with being in Florida, that would involve the beach. I’ll let Trista describe the event in her own words. Here is what she had to say, “Sean planned a whole surprise at the beach, he had an artist draw a caricature of us, with him on one knee and behind us, were my parents and his sister holding up signs that said ‘will you marry me?’. It was a perfect day!” Both of Trista’s parents, Ron and Lisa Stephen’s were “over the moon” concerning Trista’s engagement to Sean. They had seen in Sean the same kinds of things that Trista had and they knew that he was the one for their daughter. At the time, Ron and Lisa had been married for well over thirty years and Trista was their only child. Trista was a huge part of their world and knowing that their daughter was happy made them happy as well. They both had to believe that things were coming together for them as a family as they looked forward to the big day. The happy couple would be joined together in marriage on April the 6th of 2013 and the event would include a special celebration after they exchanged their vows.
Both Sean and Trista had come from marriages that did not last but there were never children involved. Having kids together is something that they wanted to experience in their marriage. It wouldn’t take long to experience being first time parents as that would follow in the not too distant future. They left for their honeymoon the day after the marriage celebration and Trista would become pregnant right away. However, that first pregnancy ended in a miscarriage. It would be immediately after that in which Trista would become pregnant again. This time, the pregnancy would progress normally as all would go well! Their family was getting ready to grow in number by one and that is a big event for any couple. It was in the course of this pregnancy that Sean and Trista decided that owning their own home was the thing to do. Their life together was growing beyond their rented condominium. Their first house became a reality in December of 2013 and they didn’t waste any time in getting it ready for the new baby. This included renovating the nursery prior to the delivery of their new bundle. Trista would tell me that as all of this was taking place, she would become VERY pregnant. That means that it was time. She would deliver a baby boy to this family. They had a son and they would name him Colten.
Mister Colten was a big baby, weighing in at nine pounds. He made his appearance on February the 7th, in 2014. Colten was a perfect little man. He had all of his fingers and toes and he came complete to the showroom floor having that brand new baby smell. His parents were so happy. Especially Trista as she had to work extremely hard to deliver Colten. Her labor lasted 16 hours and she was pushing for three hours of that time. Trista explained the long delivery time in the following way, “No wonder he took so long! My doctor had assured me that with my body type, there was no way I would have over a 7 ½ lb baby. She was very wrong!” To say that Trista was overjoyed to be done with it would be an understatement and you just know that big Sean had to be elated. He was the very proud father of a son and that left him beaming from the inside to the out. Both sides of the family would be so happy for Sean and Trista but it happened to be Trista’s mom that would soon hold little Colten. There were pleasant thoughts of having grandkids and those dreams had become a reality. Trista’s mom, Lisa, describe the experience of holding Colten and the bond that would take place in the following way, “I never knew I would love another human being so much until Colten was born and minutes after he was born I held him and the bond was formed.”
Life was, all at once, changed from being good to being great. Here was this couple that had each found the love of their life and they had family by their sides to enjoy it with. Now there was a little man for all to enjoy as they watched him grow and develop. Colten’s delivery had been a difficult one, given his size but when it came to his little man disposition, he was a great baby. The months would come and go and the joy would continue as they watched Colten grow. The entire experience was just as it should be. Their little man would sleep through the night early on and he would reach all of his milestones, just as one might expect. Colten even started to talk at an early time in his development and he would say the cutest things. The time spent with Colten and his mom and dad was time that was cherished by Ron and Lisa. As Colten’s first birthday was approaching, the happy couple decided that it was time to start trying to get pregnant again. Trista felt that with Colten being such a good baby, they would want to duplicate the experience if they could. Not only that but Sean had felt that they would want their children close together. Sean and his sister Michelle had been born close together and were, in fact, close to each other in their relationship as siblings.
The Family Bond
Colten was loved by his grandparents on both sides of the family but due to distance and circumstance, Trista’s parents would become especially involved. The bond that would develop, even between Sean and the Stephens would become very close. All of us who are parents learn that there are things that take us by surprise as time goes along. Part of being involved as moms and dads is dealing with the unexpected. Sometimes things can occur that are more than we can bear on our own and it’s nice to have help when this happens. As a family, no one could have known what the circumstance surrounding Sean and Trista’s next child would involve. Ron and Lisa’s support for this young family would prove, very soon, to be invaluable and very much welcomed. As Colten’s first birthday arrived, Trista was well into her pregnancy with the second child. This little family was really taking shape and both Sean and Trista were excited with the fact that their family was growing. Trista’s next pregnancy was a mixture of difficulty and ease. Unlike her pregnancy with Colten, Trista had a big struggle with morning sickness. This lasted 22 weeks into the pregnancy and Trista thought that it would never end. During the pregnancy Sean and Trista would learn that they were going to have a girl and they were “over the moon” concerning the news. How wonderful it would be to have two children, both a boy and a girl. They would be close in age and that would duplicate what Sean had experienced growing up with his own sister Michelle.
Aside from the terrible morning sickness that Trista had experienced, her pregnancy progressed well and the time would soon come for their baby girl to make her entrance into this world. Trista’s doctor decided to approach the baby’s delivery with caution because of Colten’s size as a newborn. It was feared that the same type of difficult delivery might take place if her 2nd baby was as big as Colten was. The doctor wanted to induce Trista’s labor at 39 weeks to help ease the delivery of the baby. It was on September the 5th of 2015 that they would check into Saint Joseph’s Women’s Hospital in Tampa. Whereas Colten was a very difficult and tiring delivery, Sean and Trista’s baby girl would make her entrance into this world with ease. They had arrived at the hospital in the morning and by lunch time, their new baby had made her presence a reality. It only took three pushes and their bundle was here weighing in at a petite seven pounds and one ounce. They named their new little princess Tessa! Just like Colten had been at his delivery, Tessa was perfect in appearance. She was perfect and at the same, perfectly beautiful. Her little nose was tiny and adorable and she had the most beautiful blue eyes. Sean and Trista looked at their new daughter and thought to themselves that their family was then complete! Trista explains their reaction to seeing Tessa for the first time in this way, “When they put her in my arms she immediately stopped crying. She was so calm. I cried with Sean and my mom over how absolutely beautiful and perfect she was.” In fact, she was beautiful and yes, so perfect in every way. All at once, this brand new baby girl was the object of everyone's adoration.
Being Colten’s grandmother had made Lisa's life feel so complete, however, seeing baby Tessa for the first time brought things to a new level for her. The love that she had felt for baby Colten was now multiplied by two as she held Tessa. She described what being a grandmother of two meant to her as she held her granddaughter for the first time, “I held her minutes after she was born and the bond was formed. A bond so strong nothing can break it. My love for these children runs deep. They are my world.” The bond that would grow with these two children would only serve to increase the bond that everyone felt towards one another. Activities done as a family now involved these two children and it brought fullness to what everyone would experience. Tessa would grow and develop in the way that one would expect over the first year of her life. There was nothing that one would consider to be a red flag even though everyone did see some differences in Tessa as compared to Colten. One thing was that she didn’t sleep well like her brother did early on but as Trista noted, some babies sleep better than others.
Tessa reached many of her early milestones, just as one would expect. She crawled and sat up right on time and would begin to take flight just before her first birthday. Tessa was always happy and smiling and she brought so much joy to her family. So many of her baby pictures included a little smile and that made everyone else smile. One thing about Tessa was the fact that she was always into things once she started to walk. She seemed to be on the adventurous side while Colten had been reserved and well behaved early on. He would never, for instance, touch things on the shelves while Tessa would grab everything in sight. Her level of physical activity was very high as well from very early on. Trista explained with this, “She would climb everything she could. I always had to have an eye on her or she would be at the top of the book shelf! We always said she’s our crazy girl. She had endless energy and has always loved being outside. Her favorite thing to do is go down the slide. If I gave her the option, she’d stay outside all day long.” Did the family just have a busy little person on their hands? Was Tessa someone who might be termed as a “doer” as she got older? Would she be one that you could count on to get things done? Whatever the case may be, this family had someone who was very special on their hands. Sean, knowing this, had the following to say about his daughter, “Tessa was definitely our wild child. I always said she was either going to rule the world or burn it to the ground. Zero Fear. First to climb to the top of anything or leap off of it.” Was Sean up to the challenges faced with Tessa? He loved his little girl a whole bunch and he would give it everything that he had. Life was good, although everyone was getting busier by the day.
There are a lot of children that develop, perhaps a little more slowly in certain areas. A child’s speech is one area where differences may exist although there are certain expectations that one would have for any child. One of the concerns that Trista had about Tessa was that she might have a delay in her speech. She of course based this feeling on the things that she was observing in Tessa. Again, she had Colten’s development to use as a basis for comparison. Trista noticed right away that Tessa was unable to mimic certain sounds that were considered to be the basics. Here are the examples that she gave, “I would say ‘the cow says moo, can you say moo’ and she would say ba. Things like that were when I started to get concerned. She also was only saying dada at 18 months old and no mama yet.” Was this attributed just to a speech delay or was there something more involved taking place with Tessa? Sean and Trista would have Tessa’s speech assessed because of their concerns, however, they would be unable to get her into any type of program. This, because she was seen to be intelligent in all other areas. The issues with Tessa’s speech would continue to be a concern and this would be a cause to have her re-evaluated at the age of two. It was at that time that Tessa was seen as having an issue that needed attention.
This would result in her gaining entrance into a program named Early Steps. This program was designed to help in the area of speech therapy and it did have a positive result in regards to Tessa’s speaking skills. The following is what Trista shared concerning the early results of the therapy, “Speech therapy did help. She finally started saying mama, she was saying bubba (what she calls her brother). She finally said yah you, her version of love you.” This was encouraging to Trista and the family but they would soon receive a bit of news concerning Tessa that was very disheartening. This took place as Tessa was approaching three years of age. It was at that time that Tessa’s speech therapist diagnosed her with apraxia of speech. This is a failure in the coordination that takes place between the brain and muscles that control a child’s ability to speak. Needles to say, Sean and Trista were devastated by this diagnosis. Trista cried, wondering if her little girl would ever go on to have a conversation with her mom? This was the thought that ran through Trista’s mind at the time. She recalled words that she had spoken to Tessa in one instance while hoping that things would improve, “One thing that sticks out in my head is laying in bed with her one night at about that age and I told her, ‘I know you will start talking one day. You will just be able to get all of your words out and you will never stop talking after that’”.
Things to Overcome
One would hope that this would come true and that Tessa would overcome the issues with her speech. There however, would be much more to come. There is a host of issues that can affect a child along the way. Many parents will face circumstances with their children that will have to be dealt with and there will be things that a child must overcome as they grow. Some will have issues that are greater in complexity. I have said it before but I will repeat it here, a child’s life should be filled with laughter and innocent fun as life’s lessons are learned. It is true though that troubles often come that one would never expect to happen. It was apparent that the Bruner family had a special situation with Tessa. Her speech therapist, whose name is Aleisha, would continue to work with her and she would notice something in Tessa that would increase her level of concern. From what she was seeing, she felt that Tessa was having issues with her fine motor skills. Aleisha, who is a valued friend and Tessa’s speech therapist to this day, recommended that Sean and Trista look into occupational therapy for their daughter. They, of course, followed through but still, they were optimistic. Trista would tell me that, at this point, she never expected anything beyond these issues to be a problem.
It would be in December of 2018 that Sean and Trista had made the decision to sell their existing house in order to purchase one with a little more space. Things would move a more quickly than they had anticipated as their home would sell before buying the next one. Of course, they would need a place to live and that meant moving in with Trista’s parents. This wasn’t a bad thing at all. It gave everyone more bonding time and Ron and Lisa would certainly enjoy having the grandkids with them. In fact, Ron, who the kids referred to as their “Pop”, would take naps with Tessa. This would certainly provide more opportunity for that but it was because of this that more would begin to be revealed about Tessa. Ron had been seeing what was termed as weird behaviors during nap time and this would start to raise further concerns. It was noticed by Pop that Tessa would suddenly sit up and she would start with these movements. His concern was that perhaps, Tessa was having seizures during these events. Trista shared with me what her thoughts were as she heard this from her father, “When he said seizure, I thought no way dad! It can’t be a seizure. I have never seen anything like that from her before.” Even though in disbelief, Trista very wisely decided to get in contact with a pediatric neurologist. The doctor would waste no time in ordering the testing that was required to evaluate Tessa’s situation. Both an MRI and an EEG would be ordered for Tessa. So many different things had taken place with this little girl already and it just seemed that the problems were beginning to mount, one thing on top of the other. This family was on a journey with Tessa, even though they were unaware of exactly what was taking place at this time.
Trista explained that the initial EEG did not show any evidence of seizure activity. With this, the neurologist was hesitant to give Tessa a diagnosis and he did not yet want to put her on medication. The results of the MRI came back after the EEG was performed and with that, the doctor and staff wanted to discuss the results with the family. I will use Trista’s own words here to explain what they had found in the MRI and also, Trista’s reaction, “They said that there were some issues in the front of her brain with white matter and they said it’s something that most likely happened in utero and that her brain did not develop properly. I was sobbing in their office.” Things had seemed so perfect. A man and a woman meet and true love is found. Together, as a family, the experience of having children is enjoyed and the perfect size of a family is formed. A boy and a girl! All of a sudden, over a short period of time, things had changed and there was a big problem going on with their princess. Trista said that the doctor could not give her an answer as to what all of this meant to Tessa’s future and whether or not she would ever be “normal”.
Tessa’s condition, whatever was taking place, would gradually become worse after that. This sweet princess was falling all of the time and she would run into things. Everyone, including the staff at her school, was becoming increasingly concerned about her. Her safety was at risk and the teachers were concerned about her clumsiness. With the news from the school concerning Tessa’s frequent falls, Trista took Tessa back to the neurologist for an emergency appointment. This could not be ignored! It was decided that a 24-hour EEG be performed and a medication would be prescribed. They were hesitant to put Tessa on medication because they had yet to see evidence of seizures, however, they would end up putting her on a low dose of Keppra as a precaution. This, because of the abnormalities that they had observed in Tessa’s brain. All of this was taking place while Sean and Trista were in the process of purchasing a new home. Can you imagine that? Life never stops, although you wish that it would slow down during times like this!
It was just a little over a year ago, on April the 20th, that a major event would take place. The Bruner family had just moved into their new house and was returning from taking the kids on a walk to a lake that was in their neighborhood. Trista had just put Tessa at the table for a snack when something terrible would happen. Tessa started to fall sideways and Trista asked her if she was okay. Tessa then smiled at her mom but then, a large amount of drool started coming from her mouth. The poor thing then fell forward and hit her head on the table before Trista could get to her. Trista yelled for Sean, in fear that Tessas was choking. Right away, they got Tessa out of her chair and started sweeping her mouth for food as they checked her breathing. Trista stated that Sean then laid her on the floor as she was unresponsive. Sean breathed into Tessa’s mouth. She looked up at her daddy and smiled at him but then she started to convulse. One of the most terrifying things that a parent can witness is watching their child have a grand-mal seizure and this is what they were seeing. The entire thing lasted an entire seven minutes. I know, this is one of the most helpless feelings that can be felt by a mom and a dad. This is something that neither Sean or Trista had ever seen before, and you know what? It doesn’t matter whether you are male or female, dad or mom. It truly is a very frightening experience. Sean described what he went through that day and it should tell us all much about the man and father that he is. Here is what he had to say, “The first big seizure was the scariest day of my life. I remember holding her head and just kept talking to her. Her eyes rolling back and jerking, foaming from the mouth. I truly thought my daughter was going to die in my hands. After the paramedics came, Trista and Lisa went to the Hospital. I stayed behind until Ron was able to come watch Colten. Once I got to the Hospital and was in the room, it all hit me at once. I Had a pretty hard cry.” I’m right there with you Sean, if only in spirit!
Feelings of panic are normal during a time like this, however Trista was able to call 911. The operator felt that they were, in fact, witnessing a seizure and she dispatched paramedics to Sean and Trista’s house. The paramedics had arrived as Tessa was coming out of the seizure and they wanted to transport her to the emergency room at the hospital for evaluation. The ER doctors examined Tessa and would end up giving her a diagnosis of generalized epilepsy. They increased the level of Keppra that Tessa would take but that was it. Trista stated that the increased level of medication did not improve the situation as Tessa’s condition only worsened. Tessa was no longer having grand-mal seizures but the Bruners would soon realize, all of Tessa’s falls and her clumsiness could be attributed to seizure activity. Drop seizures or atonic seizures were suspected to be the culprit. What a person will experience while dealing with doctors can be varied at times. Most of the time, doctors are right on top of things and they know just what to do. Other times, the experience can lead to frustration, all the while suffering through the anxiety of dealing with a loved one that needs the very best attention. Tessa’s neurologist would go on to order a 48-hour EEG but that is not what would get the ball rolling in the Bruner’s quest to gain answers. It was during an appointment that the doctor had just mentioned a free genetic panel of tests that was being offered by a company name Invitae. The test was available for finding disorders that are genetically related to epilepsy. To this, Trista said yes, she was interested, and she asked the staff to do the testing.
Searching for Answers
The doctor decided to draw a sample for the test using saliva with the result ending in a failed test after the sample was sent. They needed a new sample and saliva would be used once again. It was during this time that they were giving Tessa juice to drink in order to produce more saliva and this would cause Trista to question their methods. She felt that giving Tessa juice could corrupt the sample, causing it to fail again. They assured her that this would be okay as long as they waited five minutes before taking the sample. The result of the test, once the sample was sent a 2nd time, was that the testing again resulted in failure. Trista never heard back from the doctor’s office but she would receive a call directly from Invitae. They were not having any success in contacting the neurologist office and that is why they contacted Trista. The representative of the company asked her if she would rather have a blood draw done to make things easier. To this, Trista quickly said yes. This experience would result in Trista’s not being too happy with Tessa’s current neurologist. She stated that they had never been readily available and they had no real answers as to why Tessa was getting worse.
Trista would go on a search for a new doctor as a result and she would find a neurologist that was in a smaller practice. The hope was that Tessa would get greater attention and that the answers would be found. This doctor would examine Tessa and would wind up ordering testing only for Angelman Syndrome and also for Rett Syndrome. In the meantime, Invitae had been running tests on an entire panel of things that are related to epilepsy. So out there in two different laboratories were two different sets of tests that were being performed and they would make their way back to the neurologists office. Trista had requested that Invitae send their results to the new neurologist office. All of this would lead up to what Trista would refer to as “the day our lives changed forever”. This happened on July the 17th of 2019, a day in which Tessa had a neurology appointment. I will let Trista tell you how the appointment went in her own words, “We knew that both genetic tests were back in, finally. Invitae had sent their results to the new doctor as well and they had informed us of that. We went in scared but hopeful to have answers, finally. We sat down with the doctor and he first went over his test results which cleared Tessa of Angelman Syndrome and Rett Syndrome. He was going to end the appointment after sharing that news. But then I said to him, I was notified you also had the results back from Invitae. He looked through his folder and sure enough they were there. He started reviewing them while we sat there waiting. We had no copy of our own to review at this point. He told us that the test had shown several different things but that genetic testing is so crazy these days every little issue shows. But in his mind these were all inconclusive results and nothing of concern. He said Tessa just has epilepsy and once we get a handle on it, she will be much better. We just need to figure out the right meds for her.”
I find this confusing. What was the doctor thinking by not considering the findings of the panel of tests that were performed by Invitae? What was his reasoning? Whatever the case may be, Sean and Trista left his office with a copy of the test findings in their hands. Trista said that she left the office with a sense of relief, knowing that her baby girl was going to be okay. Once they got out to the car, Sean started looking at the reports and much to his dismay, he saw something that was puzzling and of great concern. Trista begins by quoting her husband as he looked over the findings from Invitae, “‘I’m confused by this first part. I feel sick reading this. It says Batten Disease, CLN2, positive. Why does it say positive when the doctor just said inconclusive?’ I told Sean to calm down and it’s probably fine. Why would the doctor tell us not to be concerned if there was a problem? But my whole drive home I was dwelling on it and feeling just sick over it. When I got home I ended up calling Invitae myself.” As Trista did so, they transferred her to a genetic counselor and that individual was also confused as to why the doctor had told them what he did. The counselor told Trista that their little girl did, in fact, test positive. Tessa had two genetic mutations for CLN2. The results of the test would include a statement that says that children with CLN2 do not normally live beyond the age of 12 years old. What is it like to be a mom and to be given this kind of news? Trista said that she started sobbing upon reading this. She could not believe that this was happening. It was all a very surreal experience.
Trista explains, “To go from this feeling of relief after the doctor straight down to devastation is something I can’t even describe in words. I immediately called Sean and I remember just saying to him ‘Our little girl is going to die’”. For Sean’s part, he had left work for that appointment and had gone back to finish his obligations for the day. In the back of his mind was what had transpired previous to his return. Here is how he put things to me, “We had left the Neurologist feeling better, as we thought we just had Epilepsy to battle. Except for that paragraph about CLN2. I couldn’t stop thinking about it. I went back to work as I had left to meet up for the appointment. I was in a home owners house (I work as a warranty rep for David Weekley Homes) when Trista called me. I quickly excused myself and ran to my truck and balled my eyes out. Just wanted to get home and hold everyone in my arms.” As men, we should instinctively choose to hold the women that are placed in our lives in a position of honor. Tessa was Sean’s little princess and he had just received the worst possible news that a father could. Trista’s next action was to break the news to her mom and dad. This took everyone by surprise and Trista explains with this, “I called my parents next and told them. We were all just in absolute shock. We had never heard of Batten disease. Not once did this show up in my google searches over the months when I tried to find out what Tessa might be suffering with.” The shock that Ron and Lisa felt was equal to that felt by Sean and Trista. As a family, they were incredibly close. Sean’s family, both local and out of state would also be very concerned upon hearing the news.
Those closest in proximity to Sean and Tessa would be by their side as their journey continued. There were none closer than Ron and Lisa and they would be there constantly to provide support. Here is some of what Lisa had to say concerning the time in which they first learn of Tessa’s diagnosis, “Our world as we knew it changed in an instant … We had never heard of Batten disease. Then we heard the word no one ever wants to hear, FATAL. I thought I would never be able to breath again. I thought, where am I going to get the strength to go on.” That first night at home was understandably, very difficult. It was just too much to digest. This little person that was so perfect in appearance had a disease that was fatal. Things that were first of concern, had now become something that is tragic. Trista described that first night in this way. “That night I just laid in bed wide awake crying. Tessa came to our room in the middle of the night like she always did and I just laid next to her trying to imagine what our future will hold.”
Renewal Of Strength
The myriad of feelings that one goes through when given a diagnosis such as Batten disease does not go away quickly. There is heartbreak that is intense. A parent starts to grieve over the child that they still have with them. Most often though, a process takes place in which there is a renewal of strength and determination. Hope for future clinical trials is something to cling to. These days, a parent that is given the diagnosis of the CLN2 variant of Batten disease will receive the news concerning a treatment that is available. Enzyme Replacement Therapy is available in regions across America, as well as in other countries. The Bruners would find out that they had hope for a treatment and this news would come very quickly. This happened as Trista researched the disease that she had just learned of. That would be very significant to Tessa’s battle with Batten. Trista would learn that this treatment was available through a company named Biomarin and without waiting, she filled out a form that was available to gain entrance into the program. Time is of the essence for getting a child started with this program and it would be the very next day that Trista would receive a call from Biomarin’s Nurse Consultant. This person made it possible for little Tessa to gain quick access to the treatment. Very soon, the surgery to implant a port into Tessa head for receiving the treatment would be set up. A doctor, who we will just call Emily, from Nationwide Children’s Hospital in Columbus, Ohio would be instrumental in having the surgery set up quickly. Within the matter of two weeks, they would be on their way to having the surgery done.
This meant that Trista, Lisa, and little Tessa would have to leave the others behind as they left Florida so that the surgery and initial treatments could take place in Ohio. This was difficult for Sean and Colten, as well as Ron, to be separated from the ones that they love. Especially under these circumstances. There were some tear filled nights for everyone. That is to say the least. All of this had to be explained to young Colten. He had been present while all of this had taken place with his little sister and now, they were absent. Sean and Trista tried to explain the situation to Colten and he would be a little champion about things, even though this was so hard for everyone. There were so many unknowns, such as when they would return. Everyone has to put on a brave face and do what was in the best interest of Tessa. She is so special and was so worth whatever cost might be incurred. Both financial and otherwise. Lisa’s sister lived in Northern Kentucky, just two hours away from Columbus in Ohio. Lisa and Trista decided that it would be good to stay with family as all of this was taking place, so Kentucky would be their initial destination. It would be from there that they would make their way to Nationwide Children’s in Columbus for the surgery. Successful surgery to implant the port would take place and it couldn’t have come soon enough. Trista explains, “On August 6th 2019 Tessa had brain surgery to place the port for her infusions. It went well and she recovered quickly. But throughout this time her seizures had picked up significantly. There were days where she wouldn’t even try to walk because she knew she’d fall down again from seizures.” What could be more challenging to have happen as a parent? Sean wouldn’t have missed the surgery for anything and had flown up to be present at that time.
Tessa would have her first treatment performed on August the 21st of 2019 and the second one would take place on September the 4th. The hard work done by the representative from Biomarin would prove to be invaluable as Tessa’s next treatment would take place in their home state of Florida. She had made it possible for the staff at a facility in Orlando to get trained and proficient with administering the treatment. The staff at Biomarin is wonderful and caring, to say the least. This is not even to mention the professionals that work hands on with these children. All three of the ladies were able to return home within six weeks of leaving. What a whirlwind of events this all had to be. Sean explained his gratitude towards everyone at Biomarin and the experience of missing his girls with this, “Everyone involved at BioMarin were amazing. We went from zero hope to learning of an actual treatment for CLN2. While we knew it wasn't a cure, there was something. Before we knew it, the girls were all heading to Columbus while Colten and I stayed behind. It was pretty hard but thanks to technology we were constantly talking and Facetiming. Colten and I hit our groove for sure. He surprised me how well he handled everything. We definitely had many cries together when we were sad and missed the girls.” Both Sean and Trista do not know what they would do without the support of Ron and Lisa. Sean and Trista have continued to work while all of this has been taking place and that would otherwise not be possible without Lisa’s help.
At this time, Tessa has now received over twenty infusions. Her seizures have stabilized although she is still having one to two per week. Together, Trista, Lisa, and Tessa make the trek to Orlando every two weeks for the infusions. It takes them about an hour and a half one way to get there. They have a routine which includes bringing Tessa’s favorite pillow and blanket, plus, they bring their own food from home. Tessa loves playing on her tablet during her travels to Orlando. The family has adjusted Tessa’s medications in order to calm her while they access her port. Their little warrior seems to be very shaky after each infusion and she runs a slight fever afterwards but she always bounces back. Like the others that battle Batten, little Tessa is the model of a resilient warrior. Batten has it’s predictive stages of progression but every child is different in some way. For Tessa’s family, the rapid loss of her eyesight has been a big source of heartache. Who couldn’t understand this? What would it be like to be a child and to have this happen to you? Signs of her vision loss first started to show up at two years of age. This as she would hold books very close. They would fit Tessa with glasses but that seemed to just make things worse. Poor Tessa would run into things and it has been so hard to watch it all happen while having no control over the situation. Tessa has been a warrior through all of it! There was testing performed in March to see how bad her eyesight had become. The doctor would report that Tessa cannot see anything in her direct line of vision. She can only see things peripherally. Everything is blurry to her.
Trista describes her reaction to being told that her princess is now legally blind, “I knew her vision had declined, I could see it myself, but hearing that my 4 year old is legally blind was another devastating blow. I remember as her vision got worse she would rub her eyes constantly and tell me ‘mommy eye boo boo’. I would just sit there and cry. It was harder for me to know that she noticed the change. And so hard to know I could not save her from all of this. If I could give her my eyes I would, without hesitation.” And still, Tessa has remained cheerful and the love of everyone that is around her. Her presence lights up any room in which she is present. Can you see how that would be the case? Lisa describes her granddaughter in a very special way, “Tessa is a very loving child. She loves to give hugs and kisses and she tells us all the time I love you. It doesn't come out quite like that but we know what she is saying. She absolutely adores her Pop. Since she has lost her vision we do what we call ‘roll call’ when you walk in the room. She always wants to know who is there. Her smile is like sunshine and her laugh will make you laugh. Tessa is a trooper even though she has lost her vision.” You get the idea, Tessa is a very special warrior princess! She loves to play outside. Swimming and going down the slide are her favorite things to do. When it comes to kids that battle Batten disease ... Is it us, or is it them? I think that Tessa’s life is a testament to the fact that it is them. These kids can steal your heart, never to give it back. It happened to me!
A Special Kind of Love
Sean and Trista both have a special kind of love for Tessa. Always in the back of their minds are thoughts of what the future holds for their princess. She has her challenges with the infusions and, of course, there is the vision loss. All in all, Tessa continues to thrive on ERT and the hope is that Gene Replacement will soon be available in the form of a clinical trial. Would that not be wonderful if the hope for a cure would be realized very soon? There is no way that Tessa could be replaced in this family, even so, something would take place with Trista that would soon change the dynamic of her little family. Her and Sean talked about it over the phone in the time that Trista was waiting in Kentucky for Tessa’s port placement surgery. Trista explains, “I just had this overwhelming need to try for another baby. Sean was not agreeable in the beginning.” After months of talking things over and also talking with members of other Batten families, they decided that they would give it a try. Here is what Sean said about his part in the decision making process, “I was definitely apprehensive at first when Trista said she wanted to have another little one. I did feel guilty and felt like we would be replacing her (Tessa). I am extremely thankful that Trista let me go through my own process with dealing.” I think that any father that loves his daughter as much as Sean loves Tessa would have the same apprehension about such a thing. I am happy to tell everyone who does not already know, Trista is expecting a new baby girl. A sister for Tessa! She is due to deliver the new baby bundle on the 18th of August.
This little one has been cleared of having Batten disease and everyone is very excited. Trista says as much with this, “I can’t wait to see Tessa become a big sister. I know she doesn’t quite understand it when I tell her a new baby is coming. But once the baby is here, Tessa will give her endless hugs and kisses.” That’s the way Tessa rolls. Trista says that she has the biggest heart and gives so much love to those that are close to her. She counts every day that she has with her Tessa to be a true blessing. To watch a four year old experience the things that Tessa has been through is heart-wrenching. She is an adorable little girl and knowing what she has endured just melts you inside. Her smile, I mean it is still there in abundance and she finds the joy in living regardless of what she has been through. These rare kids are the most special, and they are the most amazing. It is them! Both Sean and Trista will tell you that life as they know it would not be possible without Trista’s parents in their life. This is a family that functions just as one would hope that it would. Yes, they struggle a bit with the realization of what they are dealing with but they are dealing with life as it is, together. There is no doubt that going through this rare set of circumstances has made them stronger in their bond with one another. There is so much to deal with as a Batten family and that is why I hold all who battle Batten in a very high regard. My feelings run deep. These families are special and especially these kids.
Those that love one of these children would do anything in their power to make their young life as wonderful as it can be. Here is what Lisa says about that fact, “I never knew I was going to have to know more medical terms then some doctors know. I never knew how hard I can fight for someone when that someone doesn't have a voice to fight for themselves. So, we are family and we take care of each other no matter what. Tessa's Journey is my journey. As long as I am breathing I will go to her infusion, her therapies and her appointments. I will travel wherever I have to travel if it is best for Tessa. Tessa is sunshine and her smile will make you smile. She gives the best hugs and when she says I love you it is music to my ears.” You see there truly is something special about kids that battle a rare disease like Batten. Have I convinced my readers of that? I’m trying. When it comes to answering the question, it will be one that I continue to ponder but it is a fact that it is them and they do produce feelings in us that are like none other. Tessa’s life will, no doubt, affect the lives of her family like no one else’s can. She has already taught her family things that they may have never learned otherwise and they have loved at a depth that may have otherwise never been reached. Are you having difficulty in your own life? Look at how Tessa has handled adversity. I am so glad that this family has each other and I am grateful for their willingness to tell their story to others. It was nice to take part in doing so. Have I said it enough? Another special family for sure. Thanks for reading Tessa’s story!
Blogger and Advocate
“Eventually I decided to read about the disease. I had to know. I didn’t want to give up. I had to live for Grace. There was no escape, so I started searching the internet. And, I didn’t just find out about the disease, symptoms etc., but also that there is a treatment, there is hope.”
Grace’s Mum and Advocate
I was having problems getting started with this story but then, it came to me. The pictures posted by the families that battle CLN2 Batten while living in the United Kingdom tell us much. These are especially stressful times. As if times like these didn’t have enough stress of their own. It doesn’t matter which of the 14 variants of Batten disease that we are talking about. Each one comes with news that brings great shock and dismay as the diagnosis is received. Watching as a child progresses into the disease, while helping that child to fight, brings stresses that most of us know nothing about. The circumstances that come with battling Batten takes ordinary people and turns them into those who are able to cope with some of the extremes that life can send our way. These types of circumstances come with the disease in every case but currently, there is the added stress of being in the middle of battling a pandemic.
Having to quarantine your family is something that is new to most of us. Isolating yourself and intentionally keeping your family at a distance to others is strange. It just seems so lonely and it can leave us with an eerie type of feeling. At times, it can almost feel like playing a part in a science fiction movie. For a care provider to a Batten warrior in the midst of cold flu season, this type of thing can seem like commonplace. Protecting a child or teenager that is medically fragile is of the utmost importance and this is a practice that takes place all the time in the Batten community. Those of us who are protecting our family members may have a glimpse of what these parents experience but for us, this will hopefully only take place for a time. The goal right now is to remain healthy and to stay away from hospitals. It is desirable to stay away from large population centers and to be removed from travel using public transportation. What if you have no other choice but to put yourself at risk for the benefit of your child’s health? This is what many of the families in the UK, and other places, are going through. Most any parent would do what is necessary for their child’s health and well being. Doing what is necessary sometimes involves taking risks. Enzyme Replacement is something families that battle CLN2 Batten disease are very thankful for. This life changing treatment greatly improves the quality of a child’s life as they battle Batten. The time commitment that a Batten parent renders for their child to receive ERT is noteworthy but they wouldn’t have it any other way. The increase in the quality of life for their child is so worth it.
Let’s face it though, any medical facility is a place that we would rather not be right now with this pandemic taking its toll on society. Those who are in need of any form of treatment are most always thankful for the doctors and medical workers that provide the treatment. It’s especially true at this time that these people are our heroes. They are placing themselves at risk in order to help those in need. Whether in a time like this or not, a hospital that specializes in the care of children is of great importance. In the UK, the world famous Great Ormond Street Hospital for children is a special place. It started from very humble beginnings and has grown into a leader in the treatment of conditions that affect children. There are many families in the UK that travel to GOSH so that their child (sometimes children) can receive Enzyme Replacement. Many of those do so via public transportation. After all, we are talking about a large city here. I know that the staff at GOSH, and facilities around the globe, are taking precautions. They truly are heroes by most anyone’s standards. So whether it be by public transportation or by another means, there are risks involved with traveling outside the home at this time.
Who wouldn’t, as a parent, take these risks? Parents of children that battle CLN2 Batten take this trip every two weeks. Some travel great distances in order to bring their child for treatment. It doesn’t matter whether we are talking about a family that battles CLN2 or one of the other variants of Batten disease. All of these families exhibit a type of love towards their children which, to me, is like none other. They all live with the news that they once received. That is that their child has a disease which is terminal in nature. There is no treatment and no cure for most of the variants, although CLN2 families have had Enzyme Replacement Therapy available to them for a while now (ERT is not a cure).
Becoming a parent for the first time can be one of the most fulfilling experiences in a person’s lifetime. So many memories are formed from the experience of having a child for the first time. Whether we are talking about a young couple or someone that experiences childbirth while being single, there is nothing like bringing a child into this world. All of the new responsibility is thought of as you hold that child for the first time. You are met with the realization that you are no longer responsible for only yourself. You have this new life that is yours to care for and the bond is instantaneous. You sit there in wonder as you look at all of those fingers and toes. You ask the question, who does this baby favor in appearance. From that initial experience and through toddlerhood, having this little presence in your life brings the greatest type of joy. Life moves on and circumstances change.The joy that was experienced over time gives way to concern as trouble begins to develop. Great concern gives way to utter despair. To receive a diagnosis for a disease that has no cure leaves a parent without hope. That experience is surreal and it is not one that many will have happen. The end result is that you do everything in your power to help that child and those actions are the reasons that I write. That, and the details of a type of love that is undying.
This next story is about another young family living in the UK but this one is perhaps a little different in some ways. Doing their story brought a couple of things to mind. One is how much I have grown to love many of these little warriors from across the Atlantic. This would, of course, include their families. I don’t know that I have the resources that are needed in order to keep a bucket list going. I do know that I would love to travel more if I could. One of the things that would be so desirable for me is to be able to visit the families in the United Kingdom that I have had the opportunity to write about. There are other families there that I would like to meet as well. My reception by many of the Batten families there in the UK has been a very warm one and believe me, the feelings go both ways. In addition, who wouldn’t want to see many of the historic places that exist across the pond? Another place that I would like to visit, if possible, is the country of Poland. You may ask, why Poland? Well you see, hidden behind my hispanic sounding last name is the fact that I am half Polish in descent. I am very proud of that fact because of the love that I had for my grandparents on my mother’s side of the family. They were very honorable people and I have many fond memories of spending time with them. My grandfather, in particular, was a self-made man who was greatly successful in his endeavors. My grandparents were proud to be Polish and so am I. Poland looks to be a really beautiful country and that is another reason why it is a place that would be included in my travels. Why would I include all of this for a Batten family story? Please bear with me for just a moment.
Each Batten family story moves me in a special way and I am sure that this next story will be no exception. It begins with a young lady named Izabela, as she was growing up in Poland. The story begins in a town named Bydgoszcz to be exact. Izabela Swierczynska grew up there and had dreams and aspirations for her future. Bydgoszcz is a big city in the Northern part of Poland. It is a beautiful place, full of old world charm and modern day activity. There is much to do there in the way of leisure and cultural activities. Included in the opportunities available in this large city are those that involve higher education, both in science and in medicine. This would work well for Izabela as she initially had aspirations for being a medical doctor. One thing was for certain, she had a sense of adventure and part of that was to one day fulfill a dream to move to the United Kingdom. I better not get ahead of myself though as I tell the story. It was certain that Izabela was goal orientated and that she was willing to put in the hard work required to fulfill those goals. She would complete all the requirements of what was necessary to move through her primary and secondary education. This would be in route to a higher education and a better future, for the purpose of fulfilling her dreams. In many ways, Izabela’s upbringing was typical and her time growing up included playing with pets that were included in her family. Izabela loved animals from a very early age. This would stay with her and Izabela’s love for animals would eventually influence her career decisions.
Izabela’s desire for her future was to have a career in medicine and that would require attending medical school. She certainly had the drive and the aptitude for this and it would just be a matter of time before that would take place. In the course of time, and because of her love for animals, Izabela would change her career goals. That meant that she would work towards a career in veterinary medicine instead of practicing medicine on humans. Izabela would apply for veterinarian school at the University of Warmia and Mazury, located in Olsztyn, Poland. Olsztyn is another beautiful place on the map and that would make up the setting in which Izabela would attend school. Just as it is with attending medical school for humans, the training to be an animal doctor can be both intense and rigorous. Completing the curriculum to practice any form of medicine is no small task. Think of all of the areas of medicine that exist for physicians practicing medicine on humans. That is why we have specialists. Then think of all of the species that a veterinarian has to learn about while in school. In short, there is much to learn and completing the training is not easy. Izabela would be up for the task and she would complete the training. Her dreams were becoming a reality.
The achievement of one goal would soon lead to the realization of another. As I’ve mentioned previously, it was Izabela’s desire to one day move to the United Kingdom and that would include even more. From early in life, she had dreamed of marrying an englishman. In explaining this, she said that she didn’t know why that had been the case but she did know that it was true. Elizabela was on an adventure and she would seek employment in the UK. As would be expected, that would also soon become a reality. She would leave Poland in 2007 in hopes of making a better life for herself and also for future employment. She picked up and moved, making England, and eventually Chesterfield her home. Just as Izabela expected, she loved it there and it would very quickly become the place that she would want to spend her life. One of the places that a veterinarian might find employment at is an abattoir. That is another word for a slaughterhouse. We all have to eat, do we not? It would make sense that you would want these animals to be healthy. In fact, Izabela’s studies in school included classes that were geared towards caring for these types of animals and the teaching would include government regulations surrounding these facilities. Not only did she find a job at this place but she would also meet someone that would fulfill another part of her desires in life. This would take place in 2011.
David was a person that worked at the abattoir and he and Izabela would begin to gain an interest in one another. What I am trying to say is that they would fall in love and a growing relationship would begin! David was a fun loving and adventurous type of person and that is exactly the type of man that Izabela was looking for. All of Izabela’s dreams were coming true as she achieved the things that she set out to do in life. Not only would her relationship with David grow but so would her love for her new surroundings. She loved living in the UK, just as she thought that she would. Her work as a veterinarian was challenging but interesting and rewarding. She absolutely loved it and continues to up to this day. The long hours at work would be rewarded with time spent together with David. There are always many fun things for a young couple to do while being out and about together and they would do just that. As their relationship continued to grow, marriage began to become a consideration but it was not yet time. They also had a desire to have a child together and that would begin to be considered after a few years together.
Along the way and while in practice, Izabela would discover that she loved working as a veterinarian surgeon. That would be the area of medicine that she would settle into and it is the area that she continues in at this time. Her love for the type of work that she does has never left her nor has her love for David. It would be in the later months of 2014 that Izabela received some very exciting news. She and David were going to be parents. Izabela was going to be a first time mum and David was going to be a father. The bond between David and Izabela had been deepened by the time that they had spent together. This would be further strengthened by sharing in the experience of maternity. Plans for their future now included parenting a child and they waited in expectation as the weeks and months passed by. As the month of June in 2015 approached, so did the event that this young couple had waited for. It was time for this baby to make its appearance. Izabela’s time with carrying her baby would pass without any serious complications but the delivery would be another matter altogether. She would be in labor for four days and it would be the day before the baby’s delivery that Izabela’s midwife assured her that everything was fine. That actually was not the case and Izabela knew that.
A Princess is Born
She insisted that she be brought to the hospital where doctors could assist her and that is what would take place. This would turn out to be the right decision as the staff at the hospital determined that the baby was in the breech position. This means bottom-first (or feet-first). Many babies will be in this position during the pregnancy but they will turn themselves before making an exit from their mum’s tummy. You can only imagine what may take place if the baby does not. It was a good thing that Izabela asked to go to the hospital as her baby girl would be delivered by cesarean section. Yes, they had a baby girl and they would name her Grace. She was born so perfect and beautiful in appearance and that would take place on the 21st of June in 2015. Both David and Izabela were so excited by Grace’s appearance. Their new baby girl had all of her fingers and toes and she was covered in brand new baby skin. Grace’s appearance had been a traumatic one but she was here and she was so beautiful. David would tell Izabela upon laying eyes on his newborn daughter that she looked just like her mum. Izabela had a mini-me and David now had two beautiful girls in his life. Grace came to David during Father’s Day and he considered this little person to be the greatest gift that he had ever received. Life was at this point, so good for this little family.
There are often health concerns that children have to overcome as they develop. Little Grace was perfectly beautiful but there were a couple of things that she had to overcome soon after being born. It would soon be discovered that she suffered from hip dysplasia and that would be treated by her having to wear a pavlik harness. Hip dysplasia takes place when the hip joint doesn’t form properly. The ball is loose in the socket and this allows the hip to be easily dislocated. The harness keeps everything together in the proper location while the hip continues to develop. Grace would have to wear the harness from 10 weeks of age to 6 months. This did not keep her from displaying plenty of smiles but there was something that caused both her and her mum great discomfort. That being that little Grace was tongue tied. Grace would have to have her tongue cut twice. The first time her tongue was cut was also at 10 weeks. The first cut was very traumatic because Grace would not quit bleeding. She would have her tongue cut again at the age of 6 months and this time, it was barely noticed. All throughout this time, Izabela had been breast feeding her baby and the issue with Grace’s tongue had made the feedings painful for Izabela. Even with this, Izabela said that she wouldn’t have changed anything. The time together during feedings only served to increase the bond between mum and daughter. This is a beautiful thing!
One of the most wonderful things, and something which provides the sweetest memories, is the experience of having a little person in your life. The innocent laughter and all the cute little actions that are observed as a child figures things out. Imagine a father having to clear the smile off of his face before correcting a child who was caught doing something naughty and adventurous. I have one particular event in mind as I think of this and it took place at the family refrigerator. It didn’t happen at my house but it is a precious memory, pretty comical all the same. More memories are formed watching a child develop physically as they reach each milestone. A roll over turns into a crawl and the crawl, in combination with standing up, brings the big event. The child takes flight and begins to walk. Izabela would tell me that little Grace would begin to walk at age 11 months. She went on to describe Grace’s level of energy and her disposition as a baby with this, “And actually, she never walked. She would run all the time. She was a very busy baby. Happy and smiley.” This is evident in looking at the pictures of Grace and why wouldn’t she be happy? She had a dad and a mum that loved her and they were providing her every need. Much of their world was now centered around this little princess. David and Izabella would do everything that they could to aid in Grace’s development. Grace started to talk a little bit later than her peers but that was nothing to be alarmed about. Afterall, she was developing well in all other areas. Izabela said that Grace could soon count to ten. She also learned her colors and animals very quickly. That’s a good thing since her mummy took care of animals for a living!
The first couple of years were as normal as one might have expected for a busy young family. There was plenty of fun to be had and lots of good times for this family of three. Every couple has challenges along the way as they raise their children. Different types of events can be encountered at various ages and it seems that the challenges often begin to develop as a child approaches the age of two years. We call this time in a child’s life the terrible twos, of course. It would be at two and a half years of age that little Grace started having nightmares. Izabela explained that they would last anywhere from ten minutes to sometimes two hours. This was very traumatic for little Grace. This poor little person didn’t know what was happening and the whole thing was so frightening for her. It was also traumatic for Izabela, who would try to calm her tiny daughter. Grace would be hitting and screaming during these events and even bit Izabela a few times. Izabela thought that these were simply night terrors and she stayed patient, not yet investigating to find a cause. Who could possibly know that there was more going on with little Grace at this time? Very quickly, Grace’s behavior changed as well. Izabela stated that Grace’s behavior became horrible, seemingly overnight. She started screaming and shouting. It lasted an entire day on one occasion. Was the abrupt change in this little girl just a by-product of the terrible twos or was something serious taking place?
These events left David and Izabela confused as to what to do. One neighbor asked Izabela if her daughter was autistic and that caused her to start questioning things. It did seem that these behaviors were beyond what one would expect to be normal. It was then, when Grace was three and a half years of age, that the night terrors stopped. David and Izabela could breathe again, thinking that they had come through something that was just a phase in Grace’s development. Is that, however, all that was taking place with her? David and Izabela were relieved but that relief would be short-lived. Not even a month later, the next challenge, or rather symptom, would occur. All of a sudden, little Grace would start falling to the ground and her body would jerk uncontrollably. How alarming this would be as it happened before your eyes. The feeling of helplessness! From one occurence to the next, something very serious was taking place with their little girl. Grace was their princess and the center of their world. All of this was becoming very frightening to David and Izabela. Grace would also start to become clumsy and her speech started to slur. Was this a result of the falls that she was taking or were these symptoms of a condition that was yet unknown? At first, these things would take place only on occasion. As time went on, the regularity of the events increased. All of this was of great concern and like most any parent would, Izabela reached out for help.
Help for Grace
She started out by consulting with a general practitioner and the result would not be to her satisfaction. This particular doctor just stated that it is normal for a child Grace’s age to struggle with speech. Izabela said that the doctor completely ignored the fact that Grace was falling to the ground frequently with violent jerking taking place. How could this possibly be? Was this doctor not aware that she was speaking with another trained observer and a medical professional? Izabela moved on. It would be a week later that she and David met with another general practitioner. This doctor examined Grace and also tried to get in contact with a pediatrician. She was more helpful than the first doctor but she also asked if Grace’s behavior might be associated with a tantrum. Izabela stated that this doctor told her to record the events as they happened. This made her feel as if the doctor was questioning her honesty. Izabela started to record the events as they happened and then went to an appointment with yet another GP. By this time, both hers and David’s patience with doctors was growing thin. At this appointment, David insisted that they be referred to the department that handles epilepsy. He refused to leave until this was accomplished and as a result, the referral was made.
Finally, there was a bit of a breakthrough. The only problem was that the wait for that appointment was six weeks. Life doesn’t stand still when difficulties come along. The world continues to move around us and other responsibilities have to be dealt with. Izabela would continue to work during all of this and it had to be difficult to leave the house each day, knowing that Grace was struggling with something that her parents did not yet understand. Fortunately, Grace was being left in David’s capable hands each day. It had been earlier in their relationship, after Izabela’s maternity leave, that they decided that it was best to have David stay home to be with Grace. He became a stay at home dad. This was a bit of a role reversal but it worked well for this family because of Izabela’s training. This time in the life of this family was not only difficult for Izabela but for David as well. Grace was his little princess and he was there at home with her for every event that would take place. The answer as to what they were dealing with had to be found out.
It was on a Sunday in late June of 2019 that things would take a drastic turn. Grace’s situation appeared to be getting much worse and Izabela was understandably, very upset. She insisted that Grace be brought to the emergency room and so, she and David would load Grace into the car. They went to the hospital and once there, Grace was triaged and admitted to the pediatric ward. It had finally become obvious to others that there was something drastically wrong with little Grace. Izabela said that finally, someone believed her and David. The pediatrician may have had something in mind during a thorough examination but he would not say what that was. Instead, he only said that he would refer Grace for an MRI. Again, there would just be more waiting as David and Izabela were sent home with their daughter. Izabela said that it would be two days later that the phone would ring. The doctor was on the line and he said that he needed Izabela to bring Grace to the hospital that evening. This, in preparation for an MRI the following morning. So it was on the 26th of June that Grace would receive the MRI. Seeing her daughter undergo the test was difficult in itself and Izabela said as much with this, “I thought it was the worst experience, seeing my little girl going under general anaesthetic. But, the worst was still to come.” The doctor said the images did not reveal the presence of fluid or a tumor. While that was a relief to a certain extent, Izabela had a feeling that something much worse was taking place.
There would be more testing that would be performed and blood would be drawn for these tests. At the time that Grace was examined at the pediatric ward, Izabela felt that the doctor had something in mind. This, even though he did not say what that was. One of the tests that blood would be drawn for following the MRI was used to check for the proper level of the TPP1 enzyme in Grace. This doctor had apparently known that the possibility of Grace having Batten disease was present at the time he had initially examined her. The deficiency of the TPP1 enzyme exists when children have the CLN2 variant of Batten disease. As it turned out, beautiful little Grace was deficient in TPP1. This was allowing an abnormal build-up of proteins and lipids in the cells of Grace’s brain. Izabela instinctively felt that there was something very serious taking place with her daughter and that was in fact, the case. Just like the vast majority of the rest of us, David and Izabela had never heard of Batten disease. It was on July the 4th of 2019 that they were informed of Grace’s diagnosis. It took only a short time to receive the grim news after the initial trip to the emergency room. The young couple was told that there is no cure and no form of treatment and they were informed of the course that the disease would take. Izabela’s suspicions were correct, much to her dismay.
As was previously mentioned, there are 14 different known variants of Batten disease. Each one is caused by a different gene that is defective. In example, there is a gene that was named CLN1, after being identified, that is responsible for one variant. CLN2, CLN3, and CLN7 are other examples. What makes Batten disease so rare is that each of the child’s parents has to be a carrier of the same defective gene that is responsible for that variant. The disease is rare when compared to the total number of children born into the world but the number of children that the disease affects cannot be ignored or underestimated. The narrative of many stories are similar to David and Izabela’s. The challenges that they were facing with Princess Grace was due to CLN2 Batten disease. The night terrors, the behavioral issues, and certainly the falls to the floor were all due to a battle with Batten. They were given no hope and were simply told that their little girl would not live into her teens. They were told that the outcome of Grace’s life would be horrible and that they should go home and read about the disease. What is it like to be a parent at times like this? To look into your child’s eyes, knowing what the outcome will be. In shock and in disbelief, you wonder if something like this could be possible. How can it be that there is no treatment, no cure? Izabela said that their world had collapsed and who wouldn’t understand that to be the case?
From Helplessness to Resolve
Izabela had felt that there was something terribly wrong taking place before the diagnosis had been confirmed and she had not been incorrect. Nothing, however, could have prepared her and David for what they had been told concerning little Grace.The news left them without hope and with an inability to cope with the situation. Over a three week period, the couple was in a state of hopelessness. They could not sleep and crying constantly, they sat with eyes filled with tears. Then, things began to change. Whereas, initially, Izabela was unable to read about Batten disease, she eventually pulled herself together in order to gather the information that was available. With a bit of resolve and renewed strength, she began to research CLN2 Batten. It was at that point that Izabela had determined that she would live for Grace. She couldn’t give up and her ability to help had to be based in knowledge. Her perspective would change greatly once she started to do her research. Not only did she read about the symptoms of CLN2 but she would also also learn about a treatment that was available.
Along with the shock comes a feeling of loneliness. Especially if the medical staff leaves the parents alone and feeling helpless. Being left alone to deal with the feelings is the most difficult thing that can be imagined. It is always the case that these families find out that they are not alone. At some point and usually very soon, the parents discover that they are part of a community that exists world-wide. They are nowhere near being alone, even if separated by distance. Izabela would find and get in touch with the Batten Disease Family Association (BDFA). She would also make contact with other families that are going through, or have been through, the same thing. They were not alone. Not at all! They had found the support that had been available to all of the other families and they now had help. The treatment that Izabela had learned about was Enzyme Replacement Therapy (ERT). A solution that takes the place of the Enzyme that is deficient in Grace’s little body had been developed by researchers. The treatment had not yet been approved for funding by the National Health Service (NHS) in the United Kingdom. There were however, children that had started to receive the treatment. This was due to a clinical trial that had been started by the chemical’s developer, a company named BioMarin. Some of the children had been selected for the trial and others had been brought in on a compassionate use basis. There were however, children that were being denied because of the fact that funding had not yet been approved. Izabela joined the fight to have the funding approved. Everything that Izabela and David did, they did for Grace and all the others that needed this therapy.
The wait was a difficult one. Knowing that CLN2 was taking it’s natural course while the fight for funding took place motivated this family, along with all the others. Here is some of what Izabela had to say in her own words, “By the time the treatment got approved and Grace had her first assessments and surgery, she lost her ability to walk. Her speech became really difficult to understand most of the time. She became withdrawn and distant. She wasn’t herself anymore. It was hard to accept. And, hard to believe a fast disease was progressing.” Common sense and human decency would eventually prevail. The Funding of the treatment would be approved by the NHS. David and Izabela had hope as their child would now receive Enzyme Replacement Therapy. Like many of the children receiving the treatment, little Grace would have an Ommaya reservoir implanted in her head for the purpose of delivering the solution. This would take place on the 30th of October in 2019. Her first infusion was on November the 14th. It would be 11 infusions later that Grace would start to walk again. How exciting! Princess Grace, like her old self, would want to run but she would tire easily. Still, her parents were grateful for the positive changes that they were seeing in their daughter. Grace is a little wobbly when she walks and her speech is not what it was. Even if her words are perfect, this darling little girl talks all of the time. She slurs her words a lot and speaks only 2-3 word sentences but hearing her talk is a very wonderful thing. Grace is a happy little girl and she is engaged with others. She is such a pretty little thing. Is she not? Her smile is able to melt your heart instantly. These kids and their resilient ways is something that stands out for all to see. All they need is a little help and lots of love. A love that is undying. Grace is at this time, going to mainstream school with all of her little friends and that is wonderful to know.
She receives her Brineura treatments at the Great Ormond Street Hospital in London every two weeks. The cost of travel is very expensive but necessary. As it is with many of the families, they were initially traveling by train to London for the infusions. Now, because of COVID-19, they travel about 300 miles by car to get there. This takes about three and a half hours each way. Whether by train or by car, traveling to London is difficult but they are doing what they have to do for Grace’s sake. Of course, the practice where Izabela works is very understanding and they work with her as this is very necessary for Grace. Izabela loves her job but it is also necessary that she works in order to afford the costs associated with travel. As was stated previously, David is a stay at home dad. He just loves his little princess, sacrificing any ambitions he may have personally for the good of his family. Simply put, Izabela said this,“We cope. We have to. There is no other way.” I know that it has to be challenging but I bet that there are many sweet memories being formed as time is spent together during their travels. And still, this regimen has to be very tiring. Another precious family that is battling Batten disease. They are all so easy to write about although what is experienced is difficult to put into words.
The lives of David and Izabela have been greatly changed by the events brought on by Batten disease. They have planned on getting married for some time now. Their marriage plans had been postponed when Grace’s condition worsened last year. Now, COVID-19 has gotten in the way but they will get there. I have to believe that the experience of having Grace in their lives will only serve to draw them closer together. I bet that it will. Batten families will often say that they live in the moment and they try not to look too far ahead. Sometimes in life, all you can do is put one foot in front of the other and do the best you can. This special family is doing that and I know that being together is so important. Izabela shares a little bit about coping with this, “The Diagnosis changed all our lives forever, but we stay strong for our little girl. Me? I try to stay strong. I have to for both of them. My work and work friends keep me going. I have a getaway. I can forget when I’m there. When I’m the vet. I love Grace unconditionally.” Grace knows that her mummy works with animals and she loves that about Izabela. Izabela spends a lot of time at work but she has long weekends with David and Grace. There are a lot of special moments that are spent together.
A Difficult Kind of Love
Grace, even with the treatment, is not perfect when it comes to her behavior. She however, is a very beautiful child and so sweet when Batten disease leaves her alone. Here is what Izabela has to say about her daughter, “Grace is still very difficult emotionally and she has behavioural issues. She cannot focus. She can be very aggressive at hitting and biting. But, she’s very loving and caring when Batten lets her be herself. She’s emphatic and very strong. And that’s probably why we argue a lot. She's very much like myself. She wants to be independent and thinks for herself. And what she wants she has to have no matter what. She’ll do fine in life.” In the back of everyone’s mind when they battle Batten is what the future holds for them and their child, or children. Izabela has those concerns but the treatment is buying them time together and there is always hope that a cure will be found. A very real possibility is the advent of Gene Replacement Therapy. Especially in the case of CLN2. It is supposed to be on the horizon, coming very soon. Izabela is cautious in her thinking. She would want to know that it will work and that there are no dangerous side effects that would harm Grace. ERT is working for now, and greatly improving Grace’s quality of life. Whatever the case may be, I know that David and Izabela will do their very best for their daughter. They love Grace in a very big way.
What kind of love is it? I had seen something while reading through the answers to the questions that I had sent Izabela and it stayed with me. I wanted to bring it up in closing and I will do so at the risk of using it out of context. Izabela simply said this, “But there isn’t a harder love.” I think that I understand what she is saying although it is difficult to put into words that are adequate. In regards to the sacrifices that are made on behalf of these children, they are definitely great in size and number. That is one way that love for a Batten child is difficult. To know the eventual outcome and to stay focused and present in the battle is something that has always caused me to admire the parents. Undying love in the midst of it all. The bond that develops has to be stronger than any other. Is it the actions on the part of the parents, or is it the depth of love that they have for their warriors? I think that the depth of love that they possess for their children causes them to do whatever is necessary. It’s love poured out of oneself, even though doing so makes life difficult. When it comes to these children, is it us or is it them? They produce a type of feeling in us that is like none other. I still don’t know if I have answered the question but I will continue to try to understand. The kids that battle Batten are to me especially beautiful. It might be what we know about them, reflected back on the little persons that they are. It is difficult for me to put into words that which I have felt for some time now but I give it my best. Little Grace, you are beautiful and so very special! Best wishes to David and Izabela and thanks to both of you for this opportunity.
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Highlighting a previous blog that might interest you:
Journey Unexpected - The Rich Family
One child in a family with a rare disease is a challenge. What if there is two? Heartbreak multiplied you pick up the pieces and will yourself to do your very best. A love that is profound and a bond that is stronger than any other is formed. Two little beauties in one family is two, too many but you seek to make a difference! A journey unexpected...