“Eventually I decided to read about the disease. I had to know. I didn’t want to give up. I had to live for Grace. There was no escape, so I started searching the internet. And, I didn’t just find out about the disease, symptoms etc., but also that there is a treatment, there is hope.”
Grace’s Mum and Advocate
I was having problems getting started with this story but then, it came to me. The pictures posted by the families that battle CLN2 Batten while living in the United Kingdom tell us much. These are especially stressful times. As if times like these didn’t have enough stress of their own. It doesn’t matter which of the 14 variants of Batten disease that we are talking about. Each one comes with news that brings great shock and dismay as the diagnosis is received. Watching as a child progresses into the disease, while helping that child to fight, brings stresses that most of us know nothing about. The circumstances that come with battling Batten takes ordinary people and turns them into those who are able to cope with some of the extremes that life can send our way. These types of circumstances come with the disease in every case but currently, there is the added stress of being in the middle of battling a pandemic.
Having to quarantine your family is something that is new to most of us. Isolating yourself and intentionally keeping your family at a distance to others is strange. It just seems so lonely and it can leave us with an eerie type of feeling. At times, it can almost feel like playing a part in a science fiction movie. For a care provider to a Batten warrior in the midst of cold flu season, this type of thing can seem like commonplace. Protecting a child or teenager that is medically fragile is of the utmost importance and this is a practice that takes place all the time in the Batten community. Those of us who are protecting our family members may have a glimpse of what these parents experience but for us, this will hopefully only take place for a time. The goal right now is to remain healthy and to stay away from hospitals. It is desirable to stay away from large population centers and to be removed from travel using public transportation. What if you have no other choice but to put yourself at risk for the benefit of your child’s health? This is what many of the families in the UK, and other places, are going through. Most any parent would do what is necessary for their child’s health and well being. Doing what is necessary sometimes involves taking risks. Enzyme Replacement is something families that battle CLN2 Batten disease are very thankful for. This life changing treatment greatly improves the quality of a child’s life as they battle Batten. The time commitment that a Batten parent renders for their child to receive ERT is noteworthy but they wouldn’t have it any other way. The increase in the quality of life for their child is so worth it.
Let’s face it though, any medical facility is a place that we would rather not be right now with this pandemic taking its toll on society. Those who are in need of any form of treatment are most always thankful for the doctors and medical workers that provide the treatment. It’s especially true at this time that these people are our heroes. They are placing themselves at risk in order to help those in need. Whether in a time like this or not, a hospital that specializes in the care of children is of great importance. In the UK, the world famous Great Ormond Street Hospital for children is a special place. It started from very humble beginnings and has grown into a leader in the treatment of conditions that affect children. There are many families in the UK that travel to GOSH so that their child (sometimes children) can receive Enzyme Replacement. Many of those do so via public transportation. After all, we are talking about a large city here. I know that the staff at GOSH, and facilities around the globe, are taking precautions. They truly are heroes by most anyone’s standards. So whether it be by public transportation or by another means, there are risks involved with traveling outside the home at this time.
Who wouldn’t, as a parent, take these risks? Parents of children that battle CLN2 Batten take this trip every two weeks. Some travel great distances in order to bring their child for treatment. It doesn’t matter whether we are talking about a family that battles CLN2 or one of the other variants of Batten disease. All of these families exhibit a type of love towards their children which, to me, is like none other. They all live with the news that they once received. That is that their child has a disease which is terminal in nature. There is no treatment and no cure for most of the variants, although CLN2 families have had Enzyme Replacement Therapy available to them for a while now (ERT is not a cure).
Becoming a parent for the first time can be one of the most fulfilling experiences in a person’s lifetime. So many memories are formed from the experience of having a child for the first time. Whether we are talking about a young couple or someone that experiences childbirth while being single, there is nothing like bringing a child into this world. All of the new responsibility is thought of as you hold that child for the first time. You are met with the realization that you are no longer responsible for only yourself. You have this new life that is yours to care for and the bond is instantaneous. You sit there in wonder as you look at all of those fingers and toes. You ask the question, who does this baby favor in appearance. From that initial experience and through toddlerhood, having this little presence in your life brings the greatest type of joy. Life moves on and circumstances change.The joy that was experienced over time gives way to concern as trouble begins to develop. Great concern gives way to utter despair. To receive a diagnosis for a disease that has no cure leaves a parent without hope. That experience is surreal and it is not one that many will have happen. The end result is that you do everything in your power to help that child and those actions are the reasons that I write. That, and the details of a type of love that is undying.
This next story is about another young family living in the UK but this one is perhaps a little different in some ways. Doing their story brought a couple of things to mind. One is how much I have grown to love many of these little warriors from across the Atlantic. This would, of course, include their families. I don’t know that I have the resources that are needed in order to keep a bucket list going. I do know that I would love to travel more if I could. One of the things that would be so desirable for me is to be able to visit the families in the United Kingdom that I have had the opportunity to write about. There are other families there that I would like to meet as well. My reception by many of the Batten families there in the UK has been a very warm one and believe me, the feelings go both ways. In addition, who wouldn’t want to see many of the historic places that exist across the pond? Another place that I would like to visit, if possible, is the country of Poland. You may ask, why Poland? Well you see, hidden behind my hispanic sounding last name is the fact that I am half Polish in descent. I am very proud of that fact because of the love that I had for my grandparents on my mother’s side of the family. They were very honorable people and I have many fond memories of spending time with them. My grandfather, in particular, was a self-made man who was greatly successful in his endeavors. My grandparents were proud to be Polish and so am I. Poland looks to be a really beautiful country and that is another reason why it is a place that would be included in my travels. Why would I include all of this for a Batten family story? Please bear with me for just a moment.
Each Batten family story moves me in a special way and I am sure that this next story will be no exception. It begins with a young lady named Izabela, as she was growing up in Poland. The story begins in a town named Bydgoszcz to be exact. Izabela Swierczynska grew up there and had dreams and aspirations for her future. Bydgoszcz is a big city in the Northern part of Poland. It is a beautiful place, full of old world charm and modern day activity. There is much to do there in the way of leisure and cultural activities. Included in the opportunities available in this large city are those that involve higher education, both in science and in medicine. This would work well for Izabela as she initially had aspirations for being a medical doctor. One thing was for certain, she had a sense of adventure and part of that was to one day fulfill a dream to move to the United Kingdom. I better not get ahead of myself though as I tell the story. It was certain that Izabela was goal orientated and that she was willing to put in the hard work required to fulfill those goals. She would complete all the requirements of what was necessary to move through her primary and secondary education. This would be in route to a higher education and a better future, for the purpose of fulfilling her dreams. In many ways, Izabela’s upbringing was typical and her time growing up included playing with pets that were included in her family. Izabela loved animals from a very early age. This would stay with her and Izabela’s love for animals would eventually influence her career decisions.
Izabela’s desire for her future was to have a career in medicine and that would require attending medical school. She certainly had the drive and the aptitude for this and it would just be a matter of time before that would take place. In the course of time, and because of her love for animals, Izabela would change her career goals. That meant that she would work towards a career in veterinary medicine instead of practicing medicine on humans. Izabela would apply for veterinarian school at the University of Warmia and Mazury, located in Olsztyn, Poland. Olsztyn is another beautiful place on the map and that would make up the setting in which Izabela would attend school. Just as it is with attending medical school for humans, the training to be an animal doctor can be both intense and rigorous. Completing the curriculum to practice any form of medicine is no small task. Think of all of the areas of medicine that exist for physicians practicing medicine on humans. That is why we have specialists. Then think of all of the species that a veterinarian has to learn about while in school. In short, there is much to learn and completing the training is not easy. Izabela would be up for the task and she would complete the training. Her dreams were becoming a reality.
The achievement of one goal would soon lead to the realization of another. As I’ve mentioned previously, it was Izabela’s desire to one day move to the United Kingdom and that would include even more. From early in life, she had dreamed of marrying an englishman. In explaining this, she said that she didn’t know why that had been the case but she did know that it was true. Elizabela was on an adventure and she would seek employment in the UK. As would be expected, that would also soon become a reality. She would leave Poland in 2007 in hopes of making a better life for herself and also for future employment. She picked up and moved, making England, and eventually Chesterfield her home. Just as Izabela expected, she loved it there and it would very quickly become the place that she would want to spend her life. One of the places that a veterinarian might find employment at is an abattoir. That is another word for a slaughterhouse. We all have to eat, do we not? It would make sense that you would want these animals to be healthy. In fact, Izabela’s studies in school included classes that were geared towards caring for these types of animals and the teaching would include government regulations surrounding these facilities. Not only did she find a job at this place but she would also meet someone that would fulfill another part of her desires in life. This would take place in 2011.
David was a person that worked at the abattoir and he and Izabela would begin to gain an interest in one another. What I am trying to say is that they would fall in love and a growing relationship would begin! David was a fun loving and adventurous type of person and that is exactly the type of man that Izabela was looking for. All of Izabela’s dreams were coming true as she achieved the things that she set out to do in life. Not only would her relationship with David grow but so would her love for her new surroundings. She loved living in the UK, just as she thought that she would. Her work as a veterinarian was challenging but interesting and rewarding. She absolutely loved it and continues to up to this day. The long hours at work would be rewarded with time spent together with David. There are always many fun things for a young couple to do while being out and about together and they would do just that. As their relationship continued to grow, marriage began to become a consideration but it was not yet time. They also had a desire to have a child together and that would begin to be considered after a few years together.
Along the way and while in practice, Izabela would discover that she loved working as a veterinarian surgeon. That would be the area of medicine that she would settle into and it is the area that she continues in at this time. Her love for the type of work that she does has never left her nor has her love for David. It would be in the later months of 2014 that Izabela received some very exciting news. She and David were going to be parents. Izabela was going to be a first time mum and David was going to be a father. The bond between David and Izabela had been deepened by the time that they had spent together. This would be further strengthened by sharing in the experience of maternity. Plans for their future now included parenting a child and they waited in expectation as the weeks and months passed by. As the month of June in 2015 approached, so did the event that this young couple had waited for. It was time for this baby to make its appearance. Izabela’s time with carrying her baby would pass without any serious complications but the delivery would be another matter altogether. She would be in labor for four days and it would be the day before the baby’s delivery that Izabela’s midwife assured her that everything was fine. That actually was not the case and Izabela knew that.
A Princess is Born
She insisted that she be brought to the hospital where doctors could assist her and that is what would take place. This would turn out to be the right decision as the staff at the hospital determined that the baby was in the breech position. This means bottom-first (or feet-first). Many babies will be in this position during the pregnancy but they will turn themselves before making an exit from their mum’s tummy. You can only imagine what may take place if the baby does not. It was a good thing that Izabela asked to go to the hospital as her baby girl would be delivered by cesarean section. Yes, they had a baby girl and they would name her Grace. She was born so perfect and beautiful in appearance and that would take place on the 21st of June in 2015. Both David and Izabela were so excited by Grace’s appearance. Their new baby girl had all of her fingers and toes and she was covered in brand new baby skin. Grace’s appearance had been a traumatic one but she was here and she was so beautiful. David would tell Izabela upon laying eyes on his newborn daughter that she looked just like her mum. Izabela had a mini-me and David now had two beautiful girls in his life. Grace came to David during Father’s Day and he considered this little person to be the greatest gift that he had ever received. Life was at this point, so good for this little family.
There are often health concerns that children have to overcome as they develop. Little Grace was perfectly beautiful but there were a couple of things that she had to overcome soon after being born. It would soon be discovered that she suffered from hip dysplasia and that would be treated by her having to wear a pavlik harness. Hip dysplasia takes place when the hip joint doesn’t form properly. The ball is loose in the socket and this allows the hip to be easily dislocated. The harness keeps everything together in the proper location while the hip continues to develop. Grace would have to wear the harness from 10 weeks of age to 6 months. This did not keep her from displaying plenty of smiles but there was something that caused both her and her mum great discomfort. That being that little Grace was tongue tied. Grace would have to have her tongue cut twice. The first time her tongue was cut was also at 10 weeks. The first cut was very traumatic because Grace would not quit bleeding. She would have her tongue cut again at the age of 6 months and this time, it was barely noticed. All throughout this time, Izabela had been breast feeding her baby and the issue with Grace’s tongue had made the feedings painful for Izabela. Even with this, Izabela said that she wouldn’t have changed anything. The time together during feedings only served to increase the bond between mum and daughter. This is a beautiful thing!
One of the most wonderful things, and something which provides the sweetest memories, is the experience of having a little person in your life. The innocent laughter and all the cute little actions that are observed as a child figures things out. Imagine a father having to clear the smile off of his face before correcting a child who was caught doing something naughty and adventurous. I have one particular event in mind as I think of this and it took place at the family refrigerator. It didn’t happen at my house but it is a precious memory, pretty comical all the same. More memories are formed watching a child develop physically as they reach each milestone. A roll over turns into a crawl and the crawl, in combination with standing up, brings the big event. The child takes flight and begins to walk. Izabela would tell me that little Grace would begin to walk at age 11 months. She went on to describe Grace’s level of energy and her disposition as a baby with this, “And actually, she never walked. She would run all the time. She was a very busy baby. Happy and smiley.” This is evident in looking at the pictures of Grace and why wouldn’t she be happy? She had a dad and a mum that loved her and they were providing her every need. Much of their world was now centered around this little princess. David and Izabella would do everything that they could to aid in Grace’s development. Grace started to talk a little bit later than her peers but that was nothing to be alarmed about. Afterall, she was developing well in all other areas. Izabela said that Grace could soon count to ten. She also learned her colors and animals very quickly. That’s a good thing since her mummy took care of animals for a living!
The first couple of years were as normal as one might have expected for a busy young family. There was plenty of fun to be had and lots of good times for this family of three. Every couple has challenges along the way as they raise their children. Different types of events can be encountered at various ages and it seems that the challenges often begin to develop as a child approaches the age of two years. We call this time in a child’s life the terrible twos, of course. It would be at two and a half years of age that little Grace started having nightmares. Izabela explained that they would last anywhere from ten minutes to sometimes two hours. This was very traumatic for little Grace. This poor little person didn’t know what was happening and the whole thing was so frightening for her. It was also traumatic for Izabela, who would try to calm her tiny daughter. Grace would be hitting and screaming during these events and even bit Izabela a few times. Izabela thought that these were simply night terrors and she stayed patient, not yet investigating to find a cause. Who could possibly know that there was more going on with little Grace at this time? Very quickly, Grace’s behavior changed as well. Izabela stated that Grace’s behavior became horrible, seemingly overnight. She started screaming and shouting. It lasted an entire day on one occasion. Was the abrupt change in this little girl just a by-product of the terrible twos or was something serious taking place?
These events left David and Izabela confused as to what to do. One neighbor asked Izabela if her daughter was autistic and that caused her to start questioning things. It did seem that these behaviors were beyond what one would expect to be normal. It was then, when Grace was three and a half years of age, that the night terrors stopped. David and Izabela could breathe again, thinking that they had come through something that was just a phase in Grace’s development. Is that, however, all that was taking place with her? David and Izabela were relieved but that relief would be short-lived. Not even a month later, the next challenge, or rather symptom, would occur. All of a sudden, little Grace would start falling to the ground and her body would jerk uncontrollably. How alarming this would be as it happened before your eyes. The feeling of helplessness! From one occurence to the next, something very serious was taking place with their little girl. Grace was their princess and the center of their world. All of this was becoming very frightening to David and Izabela. Grace would also start to become clumsy and her speech started to slur. Was this a result of the falls that she was taking or were these symptoms of a condition that was yet unknown? At first, these things would take place only on occasion. As time went on, the regularity of the events increased. All of this was of great concern and like most any parent would, Izabela reached out for help.
Help for Grace
She started out by consulting with a general practitioner and the result would not be to her satisfaction. This particular doctor just stated that it is normal for a child Grace’s age to struggle with speech. Izabela said that the doctor completely ignored the fact that Grace was falling to the ground frequently with violent jerking taking place. How could this possibly be? Was this doctor not aware that she was speaking with another trained observer and a medical professional? Izabela moved on. It would be a week later that she and David met with another general practitioner. This doctor examined Grace and also tried to get in contact with a pediatrician. She was more helpful than the first doctor but she also asked if Grace’s behavior might be associated with a tantrum. Izabela stated that this doctor told her to record the events as they happened. This made her feel as if the doctor was questioning her honesty. Izabela started to record the events as they happened and then went to an appointment with yet another GP. By this time, both hers and David’s patience with doctors was growing thin. At this appointment, David insisted that they be referred to the department that handles epilepsy. He refused to leave until this was accomplished and as a result, the referral was made.
Finally, there was a bit of a breakthrough. The only problem was that the wait for that appointment was six weeks. Life doesn’t stand still when difficulties come along. The world continues to move around us and other responsibilities have to be dealt with. Izabela would continue to work during all of this and it had to be difficult to leave the house each day, knowing that Grace was struggling with something that her parents did not yet understand. Fortunately, Grace was being left in David’s capable hands each day. It had been earlier in their relationship, after Izabela’s maternity leave, that they decided that it was best to have David stay home to be with Grace. He became a stay at home dad. This was a bit of a role reversal but it worked well for this family because of Izabela’s training. This time in the life of this family was not only difficult for Izabela but for David as well. Grace was his little princess and he was there at home with her for every event that would take place. The answer as to what they were dealing with had to be found out.
It was on a Sunday in late June of 2019 that things would take a drastic turn. Grace’s situation appeared to be getting much worse and Izabela was understandably, very upset. She insisted that Grace be brought to the emergency room and so, she and David would load Grace into the car. They went to the hospital and once there, Grace was triaged and admitted to the pediatric ward. It had finally become obvious to others that there was something drastically wrong with little Grace. Izabela said that finally, someone believed her and David. The pediatrician may have had something in mind during a thorough examination but he would not say what that was. Instead, he only said that he would refer Grace for an MRI. Again, there would just be more waiting as David and Izabela were sent home with their daughter. Izabela said that it would be two days later that the phone would ring. The doctor was on the line and he said that he needed Izabela to bring Grace to the hospital that evening. This, in preparation for an MRI the following morning. So it was on the 26th of June that Grace would receive the MRI. Seeing her daughter undergo the test was difficult in itself and Izabela said as much with this, “I thought it was the worst experience, seeing my little girl going under general anaesthetic. But, the worst was still to come.” The doctor said the images did not reveal the presence of fluid or a tumor. While that was a relief to a certain extent, Izabela had a feeling that something much worse was taking place.
There would be more testing that would be performed and blood would be drawn for these tests. At the time that Grace was examined at the pediatric ward, Izabela felt that the doctor had something in mind. This, even though he did not say what that was. One of the tests that blood would be drawn for following the MRI was used to check for the proper level of the TPP1 enzyme in Grace. This doctor had apparently known that the possibility of Grace having Batten disease was present at the time he had initially examined her. The deficiency of the TPP1 enzyme exists when children have the CLN2 variant of Batten disease. As it turned out, beautiful little Grace was deficient in TPP1. This was allowing an abnormal build-up of proteins and lipids in the cells of Grace’s brain. Izabela instinctively felt that there was something very serious taking place with her daughter and that was in fact, the case. Just like the vast majority of the rest of us, David and Izabela had never heard of Batten disease. It was on July the 4th of 2019 that they were informed of Grace’s diagnosis. It took only a short time to receive the grim news after the initial trip to the emergency room. The young couple was told that there is no cure and no form of treatment and they were informed of the course that the disease would take. Izabela’s suspicions were correct, much to her dismay.
As was previously mentioned, there are 14 different known variants of Batten disease. Each one is caused by a different gene that is defective. In example, there is a gene that was named CLN1, after being identified, that is responsible for one variant. CLN2, CLN3, and CLN7 are other examples. What makes Batten disease so rare is that each of the child’s parents has to be a carrier of the same defective gene that is responsible for that variant. The disease is rare when compared to the total number of children born into the world but the number of children that the disease affects cannot be ignored or underestimated. The narrative of many stories are similar to David and Izabela’s. The challenges that they were facing with Princess Grace was due to CLN2 Batten disease. The night terrors, the behavioral issues, and certainly the falls to the floor were all due to a battle with Batten. They were given no hope and were simply told that their little girl would not live into her teens. They were told that the outcome of Grace’s life would be horrible and that they should go home and read about the disease. What is it like to be a parent at times like this? To look into your child’s eyes, knowing what the outcome will be. In shock and in disbelief, you wonder if something like this could be possible. How can it be that there is no treatment, no cure? Izabela said that their world had collapsed and who wouldn’t understand that to be the case?
From Helplessness to Resolve
Izabela had felt that there was something terribly wrong taking place before the diagnosis had been confirmed and she had not been incorrect. Nothing, however, could have prepared her and David for what they had been told concerning little Grace.The news left them without hope and with an inability to cope with the situation. Over a three week period, the couple was in a state of hopelessness. They could not sleep and crying constantly, they sat with eyes filled with tears. Then, things began to change. Whereas, initially, Izabela was unable to read about Batten disease, she eventually pulled herself together in order to gather the information that was available. With a bit of resolve and renewed strength, she began to research CLN2 Batten. It was at that point that Izabela had determined that she would live for Grace. She couldn’t give up and her ability to help had to be based in knowledge. Her perspective would change greatly once she started to do her research. Not only did she read about the symptoms of CLN2 but she would also also learn about a treatment that was available.
Along with the shock comes a feeling of loneliness. Especially if the medical staff leaves the parents alone and feeling helpless. Being left alone to deal with the feelings is the most difficult thing that can be imagined. It is always the case that these families find out that they are not alone. At some point and usually very soon, the parents discover that they are part of a community that exists world-wide. They are nowhere near being alone, even if separated by distance. Izabela would find and get in touch with the Batten Disease Family Association (BDFA). She would also make contact with other families that are going through, or have been through, the same thing. They were not alone. Not at all! They had found the support that had been available to all of the other families and they now had help. The treatment that Izabela had learned about was Enzyme Replacement Therapy (ERT). A solution that takes the place of the Enzyme that is deficient in Grace’s little body had been developed by researchers. The treatment had not yet been approved for funding by the National Health Service (NHS) in the United Kingdom. There were however, children that had started to receive the treatment. This was due to a clinical trial that had been started by the chemical’s developer, a company named BioMarin. Some of the children had been selected for the trial and others had been brought in on a compassionate use basis. There were however, children that were being denied because of the fact that funding had not yet been approved. Izabela joined the fight to have the funding approved. Everything that Izabela and David did, they did for Grace and all the others that needed this therapy.
The wait was a difficult one. Knowing that CLN2 was taking it’s natural course while the fight for funding took place motivated this family, along with all the others. Here is some of what Izabela had to say in her own words, “By the time the treatment got approved and Grace had her first assessments and surgery, she lost her ability to walk. Her speech became really difficult to understand most of the time. She became withdrawn and distant. She wasn’t herself anymore. It was hard to accept. And, hard to believe a fast disease was progressing.” Common sense and human decency would eventually prevail. The Funding of the treatment would be approved by the NHS. David and Izabela had hope as their child would now receive Enzyme Replacement Therapy. Like many of the children receiving the treatment, little Grace would have an Ommaya reservoir implanted in her head for the purpose of delivering the solution. This would take place on the 30th of October in 2019. Her first infusion was on November the 14th. It would be 11 infusions later that Grace would start to walk again. How exciting! Princess Grace, like her old self, would want to run but she would tire easily. Still, her parents were grateful for the positive changes that they were seeing in their daughter. Grace is a little wobbly when she walks and her speech is not what it was. Even if her words are perfect, this darling little girl talks all of the time. She slurs her words a lot and speaks only 2-3 word sentences but hearing her talk is a very wonderful thing. Grace is a happy little girl and she is engaged with others. She is such a pretty little thing. Is she not? Her smile is able to melt your heart instantly. These kids and their resilient ways is something that stands out for all to see. All they need is a little help and lots of love. A love that is undying. Grace is at this time, going to mainstream school with all of her little friends and that is wonderful to know.
She receives her Brineura treatments at the Great Ormond Street Hospital in London every two weeks. The cost of travel is very expensive but necessary. As it is with many of the families, they were initially traveling by train to London for the infusions. Now, because of COVID-19, they travel about 300 miles by car to get there. This takes about three and a half hours each way. Whether by train or by car, traveling to London is difficult but they are doing what they have to do for Grace’s sake. Of course, the practice where Izabela works is very understanding and they work with her as this is very necessary for Grace. Izabela loves her job but it is also necessary that she works in order to afford the costs associated with travel. As was stated previously, David is a stay at home dad. He just loves his little princess, sacrificing any ambitions he may have personally for the good of his family. Simply put, Izabela said this,“We cope. We have to. There is no other way.” I know that it has to be challenging but I bet that there are many sweet memories being formed as time is spent together during their travels. And still, this regimen has to be very tiring. Another precious family that is battling Batten disease. They are all so easy to write about although what is experienced is difficult to put into words.
The lives of David and Izabela have been greatly changed by the events brought on by Batten disease. They have planned on getting married for some time now. Their marriage plans had been postponed when Grace’s condition worsened last year. Now, COVID-19 has gotten in the way but they will get there. I have to believe that the experience of having Grace in their lives will only serve to draw them closer together. I bet that it will. Batten families will often say that they live in the moment and they try not to look too far ahead. Sometimes in life, all you can do is put one foot in front of the other and do the best you can. This special family is doing that and I know that being together is so important. Izabela shares a little bit about coping with this, “The Diagnosis changed all our lives forever, but we stay strong for our little girl. Me? I try to stay strong. I have to for both of them. My work and work friends keep me going. I have a getaway. I can forget when I’m there. When I’m the vet. I love Grace unconditionally.” Grace knows that her mummy works with animals and she loves that about Izabela. Izabela spends a lot of time at work but she has long weekends with David and Grace. There are a lot of special moments that are spent together.
A Difficult Kind of Love
Grace, even with the treatment, is not perfect when it comes to her behavior. She however, is a very beautiful child and so sweet when Batten disease leaves her alone. Here is what Izabela has to say about her daughter, “Grace is still very difficult emotionally and she has behavioural issues. She cannot focus. She can be very aggressive at hitting and biting. But, she’s very loving and caring when Batten lets her be herself. She’s emphatic and very strong. And that’s probably why we argue a lot. She's very much like myself. She wants to be independent and thinks for herself. And what she wants she has to have no matter what. She’ll do fine in life.” In the back of everyone’s mind when they battle Batten is what the future holds for them and their child, or children. Izabela has those concerns but the treatment is buying them time together and there is always hope that a cure will be found. A very real possibility is the advent of Gene Replacement Therapy. Especially in the case of CLN2. It is supposed to be on the horizon, coming very soon. Izabela is cautious in her thinking. She would want to know that it will work and that there are no dangerous side effects that would harm Grace. ERT is working for now, and greatly improving Grace’s quality of life. Whatever the case may be, I know that David and Izabela will do their very best for their daughter. They love Grace in a very big way.
What kind of love is it? I had seen something while reading through the answers to the questions that I had sent Izabela and it stayed with me. I wanted to bring it up in closing and I will do so at the risk of using it out of context. Izabela simply said this, “But there isn’t a harder love.” I think that I understand what she is saying although it is difficult to put into words that are adequate. In regards to the sacrifices that are made on behalf of these children, they are definitely great in size and number. That is one way that love for a Batten child is difficult. To know the eventual outcome and to stay focused and present in the battle is something that has always caused me to admire the parents. Undying love in the midst of it all. The bond that develops has to be stronger than any other. Is it the actions on the part of the parents, or is it the depth of love that they have for their warriors? I think that the depth of love that they possess for their children causes them to do whatever is necessary. It’s love poured out of oneself, even though doing so makes life difficult. When it comes to these children, is it us or is it them? They produce a type of feeling in us that is like none other. I still don’t know if I have answered the question but I will continue to try to understand. The kids that battle Batten are to me especially beautiful. It might be what we know about them, reflected back on the little persons that they are. It is difficult for me to put into words that which I have felt for some time now but I give it my best. Little Grace, you are beautiful and so very special! Best wishes to David and Izabela and thanks to both of you for this opportunity.
Blogger and Advocate
Is it them or is it us? Is it the feelings that they produce in us or is it that there is something truly special about them? I think that the answer has to be all of the above. It is them, but they also do something to us. Once you give a little piece of your heart to these kids and their families, they come close to taking all of it. Let it happen!
I would like to welcome to my blog Sanfilippo families, as well as, families in other MPS communities. I am grateful for every opportunity to write about those who battle an MPS disorder. This, of course, alongside their special children. This is a labor of love that is extended to each one of you! Scroll down to see MPS family titles.
Highlighting a previous blog that might interest you:
Forever Royal - The Final Version
One child in a family with a rare disease is a challenge. What if there is two? Heartbreak multiplied you pick up the cause and do your very best to make a difference. That is how a normal family becomes Forever Royal ...
Take the titles listed below and go to month and year listed in the archives.
January 2017 -
*The Story Between The Lines
February 2017 -
*I Know Just Where You Are
*My Kind Of Royalty
March 2017 -
*The Caring Type
*Face to face: A Fairy-tale
April 2017 -
*No Ordinary Love
*A Rare Friendship
May 2017 -
*Tyrell and The Rare Love Story
June 2017 -
*Seth and The Healing
July 2017 -
*Little John and The Reason
*Sands and The Scottish Princess
August 2017 -
*A Rare Kind of Devotion
*The Giggle Box
September 2017 -
*Sweet Montanna and The Status
October 2017 -
*The Blog About My Blog
November 2017 -
*Lydia, I Love You!
*Kayden And The Change In Plans
December 2017 -
*Those That Are Like Them
January 2018 -
*Nora Skye - I Know Just Where You Are
*Brock and The Priceless Memories
*Jamesy Boy and The Treatment
*The Priceless Princess From Beyond
*Forever Royal - Part One
*Forever Royal - Part Two
*That Kind of Love - Conner's Story
*What I See (She is a Butterfly)
*No Longer Alone - Kristiina's Story
*Things We've Talked About - Oscar's Story
*The Reason Why - Hannah's Story
*Kayla's Perfect Princess - Breanna's Story
*Where Do I Go From Here? - An information only blog
*Warriors Unaware - Mia and Kaleb
*Her Little Story
*Someone Like Raelynn
*Forever Royal - The Final Version
*Awfully Beautiful - The Life of Noah and Laine
*A Lifetime of Love - Tegen's Destiny
*Forever Beautiful - Gabi's Story
*The Miracle Baby - Amelia's Story
*Dylan's Life - A Small Town Story
*Princess Grace and the Challenges
*Anything for Tessa - Her Story
*Haley Bug's Battle - A Family Story
Sanfilippo Syndrome and other MPS family titles -
*The Beautiful Light of Haidyn Grace
*Any Distance Traveled - Reagan's Story
*The Missing Someone - Kiernan's Story
Archives - Use title listed above with the applicable month and year.
Highlights from the beginning of gregster60.com -
Benjamin's Daddy - March and June of 2016 - Revised May 2017. Titled Benjamin's Daddy Revised.
My Fearless Adventure - April and May of 2016
A Different Type of Warrior - January 2017
Larry - February 2017