"When we hung up from the call, I laid my head in my husband’s lap and wailed. How was I going to live? How could I care for my daughter, and now this small baby when I felt like I couldn’t breathe?"
~Gina Phaneuf Hubsch~
Scarlett's Mom and Advocate
It’s been a while now since the time that I first became aware of the kids that battle. Passing by my line of sight up until that time were many other things that would catch my attention. The political scene and current events to name a couple of things. Sporting events and movies that I might like to watch were also things that would draw my attention. Then there’s work of course. Enough said there! Awareness came to me in a roundabout manner but once it did, my attention was shifted dramatically through the life of one little girl. It was through sharing my feelings about her with others that I learned that I had a certain amount of talent as a writer. I only know this because I’ve been told that I’m at least okay at putting words together. I am a person that is given to extremes at times. By that I mean that I will go the extra mile, and even further, for something that has my interest. Passion for a particular cause will drive me to extend myself beyond a point that I would normally go to. Once I was made aware of the kids that battle rare diseases, I quickly grew to love them. I have a son who has an ultra rare disorder but never have we been told that his condition is fatal. Even so, the amount of love that I have for him is substantial because of the bond that exists between the two of us. What if we had been told when he was young that his condition was fatal and that we would one day lose him? The type of love that I would have for Benjamin might be different in that case. My love for him would then be mixed with grief over what the future held.
Can something be tragic and yet beautiful at the same time? It’s hard to imagine that it could be. It certainly wouldn’t seem that way to a person who finds themself in the midst of something considered to be tragic in nature. An outsider’s perspective may be different though. While doing their best to be empathetic to things noticed, a person on the outside might notice certain things. A person not involved might observe a type of love that is born out of the grief that is being experienced by others. I had done a story about a little boy and his sister earlier in my writing named Forever Royal. The brother and sister are from the UK and their names are Ollie and Amelia. Do you know who they are? I had used the term “A Beautiful Tragedy” at the beginning of the introduction to their story and then went on to talk about it. Here is some of what I shared (with minor changes in punctuation), “Concerning love, it is probably never displayed more boldly than it is in times of tragedy. Think about it! The emotions that pour out of these events are just so powerful, are they not? Something like Batten disease is so very ugly. Yes, it involves the most beautiful of persons and to me, their stories are the most beautiful. The course of the disease, however, is not so pretty. Even so, the bond that develops between the warrior and their caregiver is like none other. It produces the most beautiful details of pure love and devotion …. extraordinary devotion.” Over and over again, I’ve tried to describe a type of love that I’ve only been able to observe from a distance.
I’ll never forget an opportunity that I once had while at a Batten conference in Denver, Colorado. It was only to observe due to a timorous disposition that often holds me back. I was sitting at a table in the dining room across from a dad and his daughter who had Batten disease. She was perhaps pre-teen to teen in age, maybe older and I wouldn’t guess as to what variant of Batten that she had. Whatever it was, she was at the point in her journey where she was incapable of feeding herself and her father was there assisting her. For him, it was just another day, another meal as a Batten parent. He was just doing what he was supposed to be doing as a warrior father but I was able to see from a distance what a hero this man was. I could see through this simple act, the love that he was pouring out towards his child. It’s an unconditional, undying type of love that would go to any length to do what is best for one who battles. That was what I was seeing in this father as I looked on from a distance. It is tragic that any child would have to take this type of a journey and yet, there is a type of love that will be on display along the way. Can you love someone so much that it hurts inside? That would be a profound type of love. It has to come from love that is mixed with grief over what is expected. It’s there in most of the stories that I’ve been allowed to write. Parents will be given the news that their child has something called Batten disease. The search for answers may have been lengthy. Other times, the truth is quickly revealed.
The latter is only spared the agony of not knowing for a longer period of time. In both cases though, the diagnosis brings with it the knowledge that your child has a disease that is fatal and for which there is not yet a cure. You fall to the floor! Days will then go by with parents feeling despondent as the hope they once had was taken from them. In every case though, whether picking themselves back up or being picked up by others, they do get up. They realize that their child needs their parents to fight alongside them, and for them. That is when the stories of an undying type of love are written. Even if not recorded in print, these stories are written on the hearts of people that take notice. Can there be joy in the experience? To me, the answer is yes, there can be and there most always is. The kids that battle are so resilient and amazing as well. Their smiles light up any room that they find themselves in and there is just something that is special about them. Maybe it’s just my feeling, but I do think that most people would agree. The way that they handle the things that life throws at them. Always bouncing back from the frustrations and setbacks that the battle can bring their way. Watching these kids battle day to day, even from a distance away, and knowing their plight produces feelings in us that can’t be denied. That is if we choose to pay attention. Am I painting a picture with words that seem bleak or am I just being real? Without stating my focus specifically, I try to write concerning the love stories that these kid’s lives produce.
Two Small Town Kids
There is always hope as long as there are people in the research and medical fields that care. They are doing some great work and they do it for children just like a little girl whose name is Scarlett. Thanks for hanging in there with me as I’d like to start telling her family’s story. Gina Phaneuf and Jason Hubsch first met when they were both kids attending the 3rd grade. They lived in a small town named Grafton in the state of Massachusetts. Even though Grafton was a small town, it had a rich history. Part of it stemmed from being involved in America’s industrial revolution starting as far back as 1793. In the course of time, people in Grafton would one day be involved in the manufacturing of such things as high performance aircraft parts and even a substantial portion of the space shuttle’s undercarriage. There were many other things that would make up the history of Grafton but for Jason and Gina, they were just busy being kids. Both of them, after all, were just 9 years old at the time. Gina would move away shortly after that and you would think that would be the end of hers and Jason’s friendship. It should be apparent to all that Gina had left an impression on Jason. They wouldn’t see each other for years but Jason would one day track Gina down over the internet. They would make contact once again long distance in 2006 as Jason was then living in Florida. They were now both 25 years of age! Their relationship would continue to grow over the miles and then, Jason would one day move back to Massachusetts. Gina stated that she and Jason were opposites in many ways but that they actually fit together quite nicely.
A friendship that had started all the way back in the 3rd grade had grown into something much more. Life would now be spent together as a couple that was in love. Both Jason and Gina were busy with their individual career goals and marriage didn’t seem like a high priority for either one of them. Things would one day change however, and it would happen as the result of a family tragedy. Gina shared that she would lose her younger brother as he passed away in the 3rd year of hers and Jason’s relationship. This would change Gina’s view on everything. She shared, “I was reminded of how short life was, and that I wanted to spend it with the guy who made me laugh on my saddest days. I didn’t care about when we got married, as long as we were on the same wavelength.” Gina went on to share that they would be married four years later, in 2013 and their marriage would take place in Cape Cod, MA. This was Gina’s “happy place” and the Cape would now become especially significant to this couple as their life together continued. Jason and Gina were happy in their life together and there was no place like home in Massachusetts. They were, however, a little tired of the snowy winters and had considered moving. This would happen when Gina was hired by an advertising agency in Texas. Jason and Gina moved there the next year, which was 2014. Still busy with fulfilling career goals, having children together was not high on their list of priorities. This is not to say that they didn’t want to have children at some point in the future.
Gina knew inside herself that she would make an excellent mom one day but at this point she and Jason were just enjoying being together. They were enjoying their work life and leisure time while thinking, “if it was meant to be, it will be,” concerning children. Time would continue for this busy couple and one day they would be given a pleasant surprise. Perhaps it was a woman's intuition at play but Gina decided to take a pregnancy test one day. This was “just for fun” as she put it to me while taking the test in July of 2016. As it turned out, the result was positive. Gina and Jason were going to be starting their family together. All would go well as the months and days passed in anxious expectation. Anxious was probably the operative word in describing the months that led up to her baby’s delivery. This was because, at 35 years old, Gina was considered to be at an advanced maternal age. Even with this though, she looked forward to experiencing the joy of motherhood for the first time. As a planner and a Project Manager by profession, Gina decided it was best to have her baby delivered at a hospital close by where she and Jason lived. They decided to have the baby at Baylor, Scott, and White Hospital. This hospital was located in Grapevine, Texas and it was just 5 minutes from their home. Being so close to home would eliminate any concerns over getting stuck in traffic while on their way to the hospital. With an abundance of caution in mind, Gina’s doctor informed her that it was best that they induce labor and he told Gina what week the baby would be delivered.
This would also allow them to pick the day that their baby would be brought into the world and the couple would choose the 11th of April. Why this date? There was actually a purpose behind it and that was that the day would be easily remembered. Those of us old enough to remember, know that we used to dial 411 on our phones to get the number for a business we wanted to call. We called it, “dialing information”. Gina chose the date of 4-11 in 2017 to deliver her baby, a date not easily forgotten. Another thing that is important to mention is the fact that Jason and Gina decided that they would like to go through Gina’s pregnancy without having the baby’s gender revealed to them. They instead wanted to be surprised and would choose both a boy and a girl’s name for their newborn baby. Except for Gina being nervous over her age (actually, she referred to it as being scared to death) her pregnancy would continue without any complications. The day would arrive for them to welcome their new little one into their lives and all would go well with the delivery. This was in spite of the fact that Gina was “scared out of her mind”. As the baby was delivered, her newborn was covered in a blanket and placed close by her. All Gina could see was a perfect little baby with chubby cheeks and dark hair. Her baby was indeed, perfect and flawless in every way but Gina still did not know the gender of her baby.
I’ll let her tell you what she was soon to find out, “I looked down at this incredibly tiny little creature, and asked ‘what is it?’.... My mother, who was on one side of me while my husband was on the other, leaned close to my ear and said, ‘It’s a girl.’ I smiled at that pink baby, and said, ‘Hi, Scarlett. I’m your mama.’ And, I fell in love.” At that moment, life must have felt perfect and complete as this family welcomed little Scarlett into their lives. She was given a beautiful name and she was in fact, a beautiful baby. She was perfect in every way and her parent’s expectations for her life were without limits. There was, no doubt, a lot of joy over the experience of becoming a family of three. This as they brought Scarlett home for the first time. Life for Jason and Gina had changed with this event and they looked forward to life going forward as the parents of their little girl. Scarlett would grow and become more darling with each new day. Her early development would be right on track as she reached each milestone just as one would expect. She began to talk just when she should and would crawl and begin to walk right on time. It seems that raising a child is never free of difficulties and there are always things that happen along the way. This is part of parenting and it’s usually just a matter of handling the challenges as they appear. For Scarlett and her parents, a concern would arise at around 18 months of age. Up until that point, she had been a sound sleeper but then things changed.
At that time, Scarlett started to walk in the middle of the night while screaming and according to Gina, she would sometimes do it for hours. Gina said that she would not be able to calm Scarlett down. Sometimes, she would sleep for an hour and then she would wake and start back up with the screaming. This would be traumatic for any parent who experienced such a thing. Sometimes but not always, Scarlett would run to her parent’s bed and snuggle in. Occasionally, they would find Scarlett just standing in the hallway of their home acting as if she had been sleep walking. Scarlett’s parents would take her to a sleep specialist who would diagnose her with having Night Terrors. The specialist provided Jason and Gina with some tools that they could use with Scarlett. Sometimes they worked and sometimes they didn’t. Gina shared that the situation would leave her “exhausted and worried”. As for Scarlett, her mom shared that she was still a happy little girl who was full of energy during the day. She was also full of personality and Scarlett would show herself to be an outgoing little person. Gina explains and gives us a great example with this, “She was incredibly friendly, and loved to give hugs to everyone. At daycare they would jokingly call her ‘The Mayor’ because she would greet everyone who walked in the door with a big ‘Hi!’ and a hug.” I am sure that Jason and Gina were proud of their little girl as she continued to grow into the person she was becoming. This, even with the concerns over her sleep issues.
The other concern that they had with Scarlett was in her speech. Yes, she did begin to talk on schedule but she was difficult to understand at times. This was even though she talked a lot. As a result, Scarlett began to receive speech therapy as she was approaching 3 years of age. She would be diagnosed with speech articulation disorder in the Spring of 2019. This is common in kids within the United States with it affecting as many as 5 percent of children ranging from 3 to 17 years of age. Scarlett, in all likelihood, just needed some help with getting on track with her speech. There would be no way to know at this time that what they were seeing in their little girl could be signs of a larger problem. After all, Scarlett was just experiencing difficulties sometimes seen in other children. Although it wasn’t always a pleasant thing to deal with, the family became accustomed to handling Scarlett’s sleep issues as life moved forward. Things were good with Scarlett besides the challenges that had already been faced. That was up until the conclusion of Spring in 2020. The world had shut down in April of that year and everyone was dealing with the stresses associated with a worldwide pandemic. Of course this would include Jason and Gina and their families. There would, however, be another event that would take place in early June. This one would shake them as a family and things would never be the same afterward.
The scene played out as the family was eating on the evening of the 5th of June. Gina begins with this, “We were eating dinner together, and Scarlett had cleared her plate (hot dogs and macaroni and cheese - her favorite), and I asked her if she wanted some more. She said, ‘Yeah!’ But then I looked at her and it was like she was looking through me. I asked Jason if her eyes looked funny and then I asked her if she was ok, and she said, ‘No’. I scooped her up and sat her in my lap. Her eyes were kind of darting from side to side, as if she were looking for something but couldn’t find it.” That is when Gina decided to call her mom who was a nurse back in Massachusetts. Gina was talking to her mom about what she had seen so far and that is when things went from bad to worse. Gina shared that Jason had been holding Scarlett and all of a sudden, “she kind of spaced out and went limp”. Like most any parent would at that point, Gina hung up the phone and dialed 911. Scarlett’s lips then turned blue and she started to drool as she stared into space. The paramedics would soon arrive but as they did, Scarlett had returned to being her old self. What Gina had termed as an “episode” had lasted between 5 and 7 minutes and then it was over. As the paramedics arrived and examined Scarlett they found that everything looked normal. They suggested that Scarlett had perhaps experienced something called a focal seizure and they advised Gina to have a follow-up exam done by Scarlett’s regular doctor.
A Real Problem
Focal seizures involve just one side of the brain instead of both and they tend to be less severe in nature. With Covid-19 in full effect, no one wanted to be anywhere near a medical facility, especially a hospital and yet, Gina would contact the on-call physician. She told the person on staff what had happened and what Scarlett’s present state was. Gina explained that Scarlett was acting extra clumsy and unlike her normal self, she was crying. Gina stated that they suggested that Scarlett be brought to the Children’s hospital, which was thirty minutes away in Fort Worth. The initial challenges, night terrors and a speech delay, were issues that could be dealt with over time. The occurrence of a seizure, however, brought the concern over Scarlett’s situation to a level that was distressing. Were these three different issues or was each issue part of something much larger in scope? In other words, were all three issues tied together? I don’t even know if a parent would be thinking in those terms at a time like this. After this first occurence, Scarlett would be scheduled to meet the Initial Onset Seizure Team in about ten days. This appointment would take place at Cook Children’s hospital in Fort Worth. Jason and Gina were asked to deprive Scarlett of sleep in order for them to perform an EEG. What they weren’t told is that the medical team was planning on inducing a seizure during the EEG. Much to Gina's dismay, they would be successful in inducing a seizure and Scarlett would have to be given rescue medication 5 minutes into the test.
One can only imagine what it had to have been like to have had all of this thrust upon a first time mom. This, let alone any mom! Many of the details concerning what would take place during the EEG were not given until the event unfolded and there was still more trauma to come. Gina begins to explain, “We had an appointment with the neurologist immediately following the EEG, and it didn’t go at all as I expected. This was during COVID, so only one parent was allowed in the room with Scarlett. My husband was in his car in the parking lot attempting to listen in via video conference. Here, in this small room with a hungry child, I was told that my daughter had epilepsy and that they wanted to admit her to do an MRI and a longer EEG. I was a disaster. I didn’t know what any of this meant. I mean, if they wanted to keep her overnight, it had to be serious, right?” Receiving the news that your daughter had epilepsy would be bad enough but it would only get worse from there. So many times, the stress over dealing with the health concerns of a loved one can be made worse through issues with medical insurance. In Jason’s and Gina’s case, their type of coverage would lead to more stress and heartache. Because they had been a healthy family in the past, they had chosen to use a Health Share plan over conventional medical insurance. There was no way that they could have seen what was coming next. The family would be left in a room at the hospital for an entire 3 hours while hospital staff worked to sort out issues over their insurance.
Gina stated that normally, they would always be admitted and the facility would send the bill to the health share who would then pay it. In this case though, Cook Children’s hospital didn’t recognize the health share and they refused to talk to them. While still in that room, and in tears, Gina received a call from the billing office of the hospital asking if she had $15,000 to pay for Scarlett’s admission. The average person would never have that amount of money available at their disposal and that would include Gina. She was then asked if she had at least half that much, or $7,500. Of course, the answer was still no and ultimately, Scarlett was not admitted after all of the time that was spent waiting. So instead of Scarlett undergoing additional testing at that time, she was simply sent home. The neurologist prescribed medication for her seizures and released Scarlett. Gina was also given a pamphlet on epilepsy to read at home. The staff member handing her the pamphlet was sure to point out the last page which talked about a condition named SUDEP. As if she didn’t feel bad enough at that point, Gina would learn about Sudden Unexpected Death in Epilepsy right as she was leaving the hospital. I can’t imagine how shaken Gina was with this experience but she in fact said that it was horrible and that she was “devastated”. Gina was devastated, but nonetheless, she wasn’t about to sit still! Jason and Gina made the decision to seek a 2nd opinion and do so with a trusted source.
The family of three would return home to Massachusetts for an eight month stay in order to get help from Boston Children’s Hospital. This was intended to be a temporary move in order to get Scarlett the help she needed. Of course, COVID-19 would be a source of frustration but that wouldn’t keep them from getting help. Gina would get in contact with a great neurologist at Boston Children’s, doing video calls and calls over the phone anytime that Scarlett had a seizure. The neurologist would adjust Scarlett’s meds as needed and she would even do ambulatory EEGs. These are simply EEGs that are recorded at home while being monitored by the doctor remotely. These have the ability to be recorded for up to 72 hours. Getting MRIs and blood draws done was also possible but an actual in person appointment with another doctor wouldn’t take place until later in February of 2021. Prior to that time though, another event that needs to be mentioned would take place in September of 2020. That would be that Gina would become pregnant with their 2nd child. One can only imagine that the joy over the good news of a 2nd pregnancy would be mixed with the concern over Scarlett’s situation. You see it would be in December of that same year that Scarlett would begin to show other symptoms, learned later to be associated with myoclonic seizures. Scarlett’s first in-person appointment in Massachusetts would be with an epileptologist. Gina had requested this help after she and an evaluation team at Scarlett’s preschool noted that she was regressing in her skills.
Scarlett, in fact, was regressing quickly and this was alarming to all who knew her. The epileptologist told Gina that they had to figure out the reason why Scarlett was having the seizures. She knew that there could be more than simple epilepsy at play here and she recommended that Gina speak with a geneticist. Scarlett needed to undergo an epilepsy panel genetic test in hopes of finding the answer so that a plan could be formed. Gina shared that she had joined a Facebook group for Epilepsy shortly after Scarlett was diagnosed with the disorder. She would stay connected to the group initially but then ended up blocking the group’s post. This was because of the horrible things that she would read. Gina shared, “One of the posts that I had read was from a mother who posted a picture of her daughter and said that they had just received a diagnosis where the doctor said that her daughter was not going to learn any new skills, and what skills she did have, she would lose. I remember getting that pit of nausea in my stomach over that post. For whatever reason, I was petrified, and later convinced that whatever that little girl had, my daughter had.” Gina would never go back to find out what this girl was diagnosed with. It was all, just becoming a bit difficult to digest but Jason and Gina would move forward with what had to be done. A week following the appointment in February of 2021 with the epileptologist, Jason, Gina, and little Scarlett would move back to their home in Texas.
The staff in Boston would continue to monitor Scarlett and it would be in Texas that a sample was collected for genetic testing. Scarlett’s parents would use what is called a buccal swab kit for collection after it was ordered in Boston. A juxtaposition has to be one way to describe what Jason and Gina were going through at this time. There had to be feelings of happiness as Gina was getting closer to her delivery date. In strong contrast, there were anxious feelings associated with what may come with Scarlett’s situation and her future. Joy and anxiety intermixed and both present. Even with this, Gina’s 2nd pregnancy would go well and she would deliver her next baby without major complications. She and Jason would welcome a baby boy to join their family on May the 18th of 2021. He was born a perfect little man and the couple would name him Cody. Now present again would be all of the work associated with being new parents. At the same time they had a child who was regressing in her skills and who needed to be constantly monitored for seizures. The rest of life’s responsibilities didn’t stop for them either as life moved forward. Jason and Gina would also have to undergo genetic testing with saliva samples being collected for each of them. Just six weeks after Cody was born, on July the 2nd of 2021 a diagnosis was given by the epileptologist at Boston Children’s Hospital. This was done over a Zoom call in which Gina’s mom was included. With everyone together on the call, the family was given the news that Scarlett had the CLN2 variant of Batten disease.
Batten is a rare disease for which there is yet no cure and it is fatal. Devastation is a word that one might use to describe what would be felt at a time like this. Gina shared what she was feeling with these words, “I was numb ….. Nauseous. My immediate questions were, ‘how long is she going to live and what about Cody’, who at the time was only six weeks old?” Gina continues, “This was a Friday, and I was scheduled to return to work from my maternity leave on that Monday. Our epileptologist cried with us. My mom had joined the Zoom call from her home in Massachusetts and was stunned silent.” As the call ended, the silence in the air was deafening except for the tearful emotions that poured out of Gina …. this as she had laid her head in Jason’s lap. It had been Gina’s intuition as Scarlett’s mom that something much more serious than epilepsy was responsible for what they were seeing in Scarlett. Now it was confirmed and life would never be the same again. With this news in front of them, Jason and Gina knew that there was only one place for them as a family and that was home in Massachusetts. They had once felt that they would be their own little family, placing their roots in Texas. The diagnosis of Batten disease changed all of that. Gina shared, “We agreed then and there that we would sell our home in Texas and move back to Massachusetts, not only to see one of the top neurological children’s hospitals in the country, but to be near family and make as many memories together as possible.”
Dealing with something like Batten disease can be a very lonely experience and having family nearby can be a big help. Being home was best in this case and going home is what they would do. Gina had been anxious and worried at the beginning of her pregnancy with Scarlett. I had shared earlier that some of those feelings were due to her “late” maternal age but there was more to it than that. When Gina found out that she was pregnant for the first time, her thoughts included the passing of her brother who had passed from this life at only 20 years of age. She remembered how painful it was for her whole family and she didn’t want that type of tragedy to be possible again. Gina shared, “I was so afraid to open my heart like that, and to be vulnerable to that kind of hurt.” And now, Batten disease was present in the family. Gina stated that she was “paralyzed with fear” after the diagnosis. She thought about what the future would bring because of Batten disease. Gina went as far as to avoid looking up the Batten on the internet for fear that it would reveal things that she would rather not Know or think about. That being the things that concerned her daughter’s fate. In every story that I have written about the families that battle alongside their young warriors, there is always a type of transformation that takes place. Bewildered, dismayed, and heart-broken are all words that would describe how a parent might feel in the days after being told that their child has Batten disease. Dazed and feeling hopeless, the realization will always set in. As a parent, you have to fight for your child. You have to help them battle and that is always what is realized.
Needing to Breathe
In Gina’s case, a change of perspective is what would bring her to where she needed to be. She explains, “I knew I couldn’t live like this. Especially since I now had a newborn to take care of as well. The only way that I was going to be able to move forward, to breathe again, is to not look at Scarlett like a ticking time bomb.” Gina shared that for her and Jason, they just decided to take each day, one day at a time. Even with the feelings of being overwhelmed, Jason and Gina would do whatever they possibly could do for their daughter. If there was a silver lining at all, it is that there was a treatment available for Scarlett. CLN2 is the only variant of Batten disease that has this treatment available. Damage takes place with Batten because of an important enzyme that is missing in a child’s brain. The enzyme is responsible for ridding brain cells of wastes that instead build up and do great harm. Understandably, doctors urged Jason and Gina to move quickly in getting Scarlett started with enzyme replacement therapy. Gina shared, “The problem is trying to absorb all of the information. You’re told that your child is dying and it’s the worst type of death that is slow and painful. But now you also are told that they need brain surgery where a port is going to be put into their brain. They will then receive a full day of enzyme replacement every other week for the rest of their lives.” What a whirlwind of events it sometimes is for the parents that receive this type of news. The need to rush without stopping to assess the situation completely rubbed against the grain for Gina.
Her entire career involved planning and careful consideration and now, Gina was being told that they needed to act quickly. She hadn’t even had time to absorb the information and it was …. a lot of information. Their daughter needed a surgery that involved placing a port in her brain. What parent wouldn’t be alarmed by this? Gina shared that there would be hurdles to jump over to even get started. They first needed to find a doctor that was familiar with doing infusions. Of course, one of those hurdles would be getting insurance approval. A good thing is that the surgery for placement of the infusion port could take place first. This could be done while the rest of the details were ironed out. Gina continued with this, “Batten is so rare that we were told if you find a doctor that has dealt with two patients, they are considered an expert. While it was ‘easy’ to get started with the infusions (BCH did have one other patient that had been getting them for the last 6 or 7 years) it was still a learning process for all of us. This included the nurses and nurse practitioner that does our infusions.” If all of this wasn’t enough, an incident would take place roughly five months into the infusions. What happened was that Scarlett would wind up with meningitis. Jason and Gina almost lost their daughter at that time because of it. Gina shared that Scarlett’s port had to be removed, and the infection cleared before a new port was put in. The area had to heal before Scarlett could resume the infusions and this would have consequences. Scarlett missed three infusions and in that time, she would lose her ability to walk on her own.
It was devastating to Jason and Gina to have this happen to their little girl. Like most families who battle Batten disease, the Hubsch family would settle into a new normal of sorts. This as Scarlett settled into her regiment of bi-weekly infusions. Scarlett is another one that will amaze you and also melt you inside. Have you noticed her smile? These kids are the most special. The way that they will maintain a kind of joy that is possessed by the average child. Even with all the adversity that they face, they always bounce back to reclaim that childlike joy. The battle that is Batten can’t keep these kids down. And yes, they do produce in us feelings like no others can. What about Scarlett’s little brother Cody? Gina shared that he is, in many ways, an opposite to Scarlett. Much like Jason and Gina, Scarlett and Cody compliment each other because of their differences. Cody sounds to this writer to be the Mister Personality type. Gina says that he is super chatty and kind of sassy, even though he also loves a good hug. Oh, and he loves food. In fact, Gina shared that he is a black hole for food in general. Concerning Batten, the coast is clear for Cody. They also did a buccal swab genetic test on him and that revealed that he is only a carrier of the mutated gene that causes Batten. Gina says that she is thankful that Cody came into their lives at the time that he did. Had they known of Scarlett’s diagnosis beforehand, their decision to have another child may have been influenced by this news. One could certainly understand why.
Battling Batten is not easy! It is demanding on everyone in the family, even siblings. This battle has changed things for the Hubsch family. They thought, at one point, that they would continue to live and grow as a family in Texas. They loved it there and loved the house that they had bought but they felt that it was best to return to Massachusetts. This was only because of Scarlett’s diagnosis. The move back home would entail finding new doctors and new schools while searching for that “new normal”. At least now, they had familiar friends and family nearby to lend them the support that they had sought. Batten changed the way that they live their lives. Gina explains, “We no longer really ‘dream’ about the future like we used to. I have no idea what the future has in store for us, and it’s beyond my control for the most part. We have no ‘goals’ to really strive for like we did prior to Scarlett’s diagnosis. We live for today and the now, and are very conscientious about the kinds of memories we’re making for Scarlett and as a family.” I feel that their outlooks may change over time but Batten’s impact has made a difference in this family’s plans. How can you know how to plan when the future seems so uncertain? You just know that there has to be good times to go along with the bad. I am certain that sweet memories are being made most days. I know that the love that they have for one another as a family grows with each new day. Their bond with Scarlett will grow into a love that is undying and there will be a lot of sweet time spent together.
Gina continues with this, “I should add that our days are not all filled with sadness and dread. We’ve learned to find the simple accomplishments … A new word, independent steps, and eating without incident to be some of our greatest pleasures. We’re proud of our girl and her fight and persistence. And her love for everyone that she comes into contact with.” These kids, I’ve told you, are the most special and the most amazing! Like many of the parents who have children that battle Batten, Jason and Gina seek to be advocates. This is for the others in the Batten community, as well as their daughter Scarlett. Gina especially is being stretched by all of this and she explains a little here, “As a mom, I’ve always been very organized. I now feel as though I’m drowning all the time. For every success that I have with Scarlett’s advocacy, there are three items that I didn’t get to on my list.” Remember, Gina is a project manager by profession. She continues, “I feel so behind, and like I’m never doing enough. I’ve had to put myself so far out of my comfort zone as it relates to asking for and receiving help. I’m a fairly private person by nature, and I’ve had to expose these very personal situations and feelings to the public.” Gina adds that she does it gladly knowing that telling others will only do good things for Scarlett. She knows that spreading awareness can help impact her family and the others that are a part of the Batten community. Gina adds concerning Scarlett. “She is a happy, social, and loving girl, and what a shame it would be for someone to not get to meet her because I chose to keep our sadness hidden. I do it for her. The more people that surround her, the happier she is.”
Gina shared that Jason is also involved in spreading awareness concerning Scarlett and Batten disease. Jason had business cards made up with Scarlett’s picture on them. He and Gina hand them out to people that they meet, telling them about their daughter’s battle with Batten. Jason also maintains a website that tells others about Scarlett. People can follow Scarlett’s journey while getting updates at www.scarlettstribe.com. Merchandise is also available on the website in the way of t-shirts, stickers, and yard signs. The proceeds are used to support Jason and Gina’s “mission of joy” for Scarlett. Again, a lot of this takes Gina out of her comfort zone but she does all things willingly out of the love that she has for her daughter. Just like with every family that battles CLN2 Batten, there is a regiment of extra activities that is constantly evolving. There are the infusions that take place every two weeks and doctors appointments. Medications can change frequently for seizure control and other things. There are therapies and a host of special needs. The need for new pieces of equipment can come into play in the course of the child’s journey as well. The list goes on. There is so much to this story that is yet to be written. The details of a love that is undying are yet to be filled in and the bond created will then be stronger than most any other. There will be times of great joy as Scarlett will amaze those who take notice. Hearts will be changed as people are made aware. Then they also will know that these kids are the most special and the most amazing.
There will also be times of difficulty that will bring with them the love and respect of many. Scarlett’s life will change the lives of others, especially the lives that make up her own family and friends nearby. Gina shares more, “This child has brought out emotions in me like I could only imagine. I would (and still do) belly laugh when playing with her. I did (and still do) cry when I’m worried about her. I would give anything to my daughter. Anything to make her happy, or in this case, to make her feel better. Unfortunately, the only thing that I really can give her is my heart, making sure her joys become my joys and her pains become my pains.” There is always hope and good things can happen. There are people whose life work revolves around looking to bring about a cure for CLN2 Batten disease. This variant is among the most common, affecting little people like Scarlett across the globe. Gene replacement therapy seems to be the thing that brings the greatest hope for a cure and a clinical trial for it has been said to be taking place soon. It can happen. Hope is alive! In the meantime, kids like Scarlett will continue to produce in us feelings like no others can. This is especially true when it comes to people like Scarlett’s mom and dad. Gina shared what a friend once told her, “‘Having a child truly is like walking around with your heart outside of your body’ …. and now I know exactly what she meant.” This is actually a well known phrase in mom circles. I had to look it up! Your own heart is extended outside of your body to your children when you are a mom. Their hurts can make a mom’s heart ache in a fierce type of way. This is especially true when you have one that battles. It’s difficult to breathe while taking each day, one day at a time. Especially when that child is one like Scarlett! Thanks for taking the time to read Scarlett’s story!
Blogger and Advocate
Concerning kids who battle Batten disease (neuronal ceroid lipofuscinoses or NCLs), “Is it them or is it us? Is it the feelings that they produce in us or is it that there is something truly special about them? I think that the answer has to be all of the above. It is them, but they also do something to us. Once you give a little piece of your heart to these kids and their families, they come close to taking all of it.” That is what happened to me!
Hello Everyone. These kids changed my life to a large degree as I was taken over the plight of one little girl. Through these kids, I have learned that it is important to look beyond ourselves and take notice. I've stated that Kids that battle are the most special and the most amazing and I believe that this is true. They are strong and resilient, even if unaware of the plight that they are involved with. I first became aware of kids that battle Batten disease as I learned of a little girl who fought the disorder. She really caught my attention and I began to write through a series of events …. never looking back. Hidden in between the titles of all of the stories is my own. These kids taught me how much I love to write. I’ll never win an award but the kids that battle taught me that I have a passion for sharing their stories with others. They are stories that are full of heartache and grief. From a distance though, you can observe a love that is profound and undying.
I have now branched out a bit to include some of the families whose lives have been changed by having a child who battles MPS (mucopolysaccharidoses).
The science behind how the cells of the human body work is fascinating. That being said, the result of what takes place when those cells don’t function correctly is devastating. Lysosmal Storage Disorders are my area of focus and these two groups of diseases are both LSDs. Perhaps I will add another lysosomal storage disorder community as time continues. Whatever the case may be, this all started because I was made aware of the plight of one little girl who changed me. I hope that you will take the time to look within. Thanks for doing so.
Blogger and Advocate
HOW THIS BLOG WORKS -
Take the titles listed below and go to month and year listed in the archives below (way below).
January 2017 -
*The Story Between The Lines
February 2017 -
*My Kind Of Royalty - CLN2
March 2017 -
*The Caring Type - CLN2
*Face to face: A Fairy-tale -CLN3
April 2017 -
*No Ordinary Love - CLN2
*A Rare Friendship
May 2017 -
*Tyrell and The Rare Love Story -CLN2
June 2017 -
*Seth and The Healing - CLN2
July 2017 -
*Little John and The Reason - CLN2
*Sands and The Scottish Princess - CLN3
August 2017 -
*A Rare Kind of Devotion -CLN2
*The Giggle Box - CLN2
September 2017 -
*Sweet Montanna and the Status - CLN3
October 2017 -
*The Blog about my Blog
*Sebastian's Story - CLN8
November 2017 -
*Kayden And The Change In Plans - CLN3
December 2017 -
*Those That Are Like Them
January 2018 -
*Nora Skye - I Know Just Where You Are - CLN2
*Brock and The Priceless Memories - CLN8
*Jamesy Boy and The Treatment - CLN2
*The Priceless Princess From Beyond - CLN2
*That Kind of Love - Conner's Story - CLN2
*What I See (She is a Butterfly) - CLN1
*No Longer Alone - Kristiina's Story - CLN2
*Things We've Talked About - Oscar's Story - CLN7
*The Reason Why - Hannah's Story - CLN3
*Kayla's Perfect Princess - Breanna's Story - CLN2
*Warriors Unaware - Mia and Kaleb - CLN2
*Her Little Story - CLN1
*Someone Like Raelynn
*Forever Royal - The Final Version - CLN2
*Awfully Beautiful - The Life of Noah and Laine - CLN2
*A Lifetime of Love - Tegen's Destiny CLN1
*Forever Beautiful - Gabi's Story - CLN7
*The Miracle Baby - Amelia's Story - CLN1
*Dylan's Life - A Small Town Story - CLN2
*Princess Grace and the Challenges - CLN2
*Anything for Tessa - Her Story - CLN2
*Haley Bug's Battle - A Family Story - CLN1
*Journey Unexpected - The Rich Family - CLN2
*My Life, My Everything - Lydia Rose - CLN2
*A Love That Hurts - Shashka's Story - CLN2
*The Things Looked Forward to - Addy’s Story - CLN3
*Love Complicated - Bailey Rae's Story - CLN3
*So Many Questions - Evelyn's Story - CLN2
*The Feelings They Produce - Violet's Story - CLN2
*Because of Love - Frankie's Story - CLN2
*The Need to Breathe - Scarlett's Story - CLN2
*The Beautiful Light of Haidyn Grace - MPS3
*Any Distance Traveled - Reagan's Story - MPS3
*The Missing Someone - Kiernan's Story - MPS3
*The Transformation - Victoria's Story - MPS3
*Not by Accident - The Charlie Grace Story - MPS1
*The Difference They Make - Harvy's Story - MPS6
*Love Profound - Veda Rae's Story - MPS3
Highlights from the beginning. When the blog was named gregster60.com -
Benjamin's Daddy - March and June of 2016 - Revised May 2017, titled Benjamin's Daddy Revised.
My Fearless Adventure - April and May of 2016
A Different Type of Warrior - January 2017
Larry - February 2017