“Our hearts dropped but at this stage we knew we could deal with this and still give her a beautiful life. We went home still blessed we could stabilize this.”
Before the correct diagnosis
How would you feel if you were me and you were provided the details of all of these stories? How would it change your way of thinking? Would it change the way that you looked at life? Would it cause you to look more at the circumstances of others instead of just your own? Would it increase your sensitivity towards children, especially those that are battling an incurable disease?
This blog has become so important to me. Telling the stories of those that face Batten Disease has become my passion. I feel a connection through my writing and it will always be felt that I am privileged to be able to do so. I know that I always sound like a little bit of a broken record when I say that I am moved by the details of your journeys. It has happened on every story that I have done. My mind will wonder and there will be a certain detail that causes me to well up with emotion. Sometimes it happens in the most inconvenient places. Is there a more important use of my time? I really do not think so. It is so much better when we choose not to live our lives in a vacuum. It is much better to care than to not. I know that the families that battle Battens are so appreciative of those that follow their journeys. Some would otherwise feel very alone.
It was not my original thought but part of my goal in writing is to help spread awareness. This has turned out to be, perhaps, my own unique way of doing so. I am happy to be able to do my part. The other reason for why this blog continues to exist is to let Batten families know why I feel that they are so very special. Although there are other journeys experienced by children and their families, there are not many like the one traveled by a Batten warrior. The constant care and the sacrifices demonstrate an unordinary type of love on the part of the caregiver. The heartache is pushed off to the side as determination to do the very best for the child takes over. It may sound like I am being overly dramatic but I don’t think that I am. The way that you press on each day is worth noting. We all love our kids. I know that I love all three of mine, however the needs of my special son Benjamin have caused the bond between the two of us to be off the chart. It makes a difference when somebody really needs you. For the parent of a child with Battens, the feelings go even deeper as the little warrior becomes the center of attention while they battle.
Being involved with Batten families has most definitely heightened my sensitivity towards children. I have talked about this before. When you think about a child’s appearance you may realize that it hasn’t been that long since they were covered in that brand new baby skin. Their little faces are free of any of the lines that age and life’s difficulties bring. Their actions, although sometimes a little naughty, are so adorable and fun to watch. Their childlike innocence should charm the hardest of individuals and it most often does. Although there are lessons to learn, a child’s existence should be free of stresses that are brought on by childhood cancer or rare diseases. Sometimes that is not the case though. A lot of people know my friend and fellow advocate, Sandy Garrett. She gets completely despondent when she loses a child whose journey she has been following closely. Sometimes we chat about all our health issues and how, in spite of them, we are still here. Then we talk about how unfair it seems that one of these kids will have their little lives cut short by something like Batten Disease.
I know that disease is part of the human condition but it really does seem unfair at times. Kids are supposed to be able to run and play. They are supposed to be able to enjoy their innocent fun as they learn life’s lessons. Being a warrior of this type should be left to people other than children. Anyhow, where I would like to go with all this is that I never thought about these types of things before I started following the journeys of kids with Batten Disease. Now, these kids are sometimes all I think about. The value of their lives cannot be measured in terms of dollars and cents. They are priceless to me and I know that I am far from alone in believing that! I can’t say it enough. The opportunity to write these stories is perhaps the best gift that I have ever been given. I don’t think that it is just a coincidence that I have opportunity at this time to blog about some of the families beyond the Atlantic Ocean and in the United Kingdom. Everybody in the Batten community is special to me. I hope that you know that. There are many that I admire and there are some that I have connected with in a big way. Some are my favorite characters and one of those characters is Claire Bradshaw from St. Helens, England. She is a Batten mum to one of the most adorable little faces in the UK. Her daughter Kaycee has CLN2 Battens and she is receiving the enzyme replacement therapy that is now available in a clinical trial. Little Kaycee is yet more evidence that the therapy works. The following is a little bit of hers and her mum’s story and I am so happy to tell it with Claire’s help.
There are many wonderful qualities that make Claire Bradshaw the person that she is. My favorite is the fact that she is oh so funny. It is my belief that laughter in life is so very important and Claire feels the exact same way. Don’t you Claire? She is funny and she makes me giggle. One of the other things that I love is the fact that she loves kids. When it came to having children, Claire was busy. She had 5 children already but there was room for one more. Four of her kids are not really kids anymore. Bryan is 27 and his younger sister Natasha is 25. Callum is 22 and his younger brother Tyler is 16 years old. Claire, please don’t tell anyone this but my oldest son Daniel will be 34 this month. Oh wow! I’m getting old. If her hands were not full enough, she would have another. She brought little Tamzin into the world and she is now 9 years old. So cute she is and makes her mum so happy! Each and every one of her children are so special to Claire and they help to make this family just that, a family. There would then come one who is royal beyond compare. A princess of a most rare kind. That would be little Kaycee Louise Bradshaw who was born on the 26th of April in the year 2012. Claire would tell me that she herself is a type I diabetic and that was perhaps responsible for Kaycee showing up two weeks early. There was no reason to wait. Right Princess? Kaycee was born so healthy and a pretty healthy size at 6 pounds and 14 ounces. It didn’t matter to Claire that this was her sixth time around. The whole experience brought a lot of joy to her as she welcomed this tiny princess into her family. Kaycee was so perfect in appearance. She had all her fingers and toes and you just know that she was covered in brand new baby skin. So beautiful. She was the newest citizen of St. Helens, which had been her mum’s home for all of her life. Of course our kiddos don’t come about without a daddy and there would be no exceptions with Claire’s children. As life would often have it though, relationships don’t always flourish. Claire would spend some of her time raising her children as a single mum and that is commendable. I know how much her kids love their mum and it is easy to see why. Good things would come for Claire in the future!
As Kaycee would continue to grow, her families adoration for her would grow right along with her. She constantly had a smile on her adorable little face and she caused everyone around her to smile. One thing would become apparent and that is, that she is Claire’s mini-me. Looking at that smile it was so easy to see that she has her mum’s personality. Little Kaycee was up and running in no time at all, and she would reach all of her milestones on time. When it came time to start visiting everyone’s favorite room, wink wink, she was right on target. That right there would make every family happy! The only thing that was of concern to Claire was that Kaycee’s speech was not developing as soon as she expected it to. Claire had plenty of experience at this point with observing developing children and she had her eyes and ears wide open when it came to her tiniest princess.
The pace with which her speech was developing was enough of a concern that Kaycee was scheduled to have a hearing test. This, after attending a routine medical check at two and a half years of age. Kaycee passed her little hearing test with flying colors and Claire was told that her princess was just a little slower. Could this, however, all have been a sign of other things to come? Of course, time would move on and Claire, along with Kaycee and her siblings, would forge ahead. As a family, they had no idea what they had in store for the future. They knew nothing about the challenges that would be out of the ordinary. The only thing they knew is that Kaycee was so cute and her smile brightened the entire room on the dreariest of days. She was endeared by the entire family and her charming little self was so loved. If you could hear her laugh, you would know just why! As the summer of the year 2014 approached, Claire and the family began to notice more things that would be symptomatic of a bigger problem. They noticed that Kaycee’s eyes would flicker. This darling little girl was a livewire and she would run like the wind, but things began to change. That would be most disheartening to all that knew her. Kaycee’s legs were beginning to collapse when standing, and Claire said that she had to be picked up more and more throughout the day. Claire was told that Kaycee could have a form of epilepsy, and an appointment to see a specialist was set up. There was no way that anybody could be sure of what was going on before more tests were performed.
How traumatic it must be for any parent when problems with their child arise. Each and every little person is a gift and a treasure. It is difficult to watch a child struggle as you hope for the best but prepare for the worst. The search for answers can come sometimes comes with ease, however sometimes the answers come with greater difficulty. False answers can bring optimism that doesn’t belong. A lack of answers can bring increased tension and worry. In doing the stories that I have so far, one thing is repeated over and over. That is that parents do not give up until they know what is happening with their child. In general, they do not quit. Their determination is always worth noting. For little Kaycee the testing would include brain scans, blood tests, and and a lumbar puncture. Poor sweet thing! The test results came back and it was determined that little Kaycee had Eyelid Myoclonia. This is a form of epilepsy that was thought to be causing the flickering of Kaycee’s eyes. It is often accompanied with brief absences. Perhaps this was what was causing her little legs to collapse as well. It was on September the 14th of 2014 that this news was delivered. Was it a correct diagnosis though? Claire’s reaction, in her own words, was that their “hearts dropped” with the news. Her little girl was special in a different way. She would bring an additional challenge to the family, but one in which they could handle the situation. They could deal with Kaycee having a form of epilepsy. She could be stabilized and perhaps have a close to normal life.
As anyone might guess, and as I have already spoken about it, a situation like this could be very stressful on a family. It could also be stressful on a new relationship. In fact, that is where Claire would find herself. It was six to eight weeks before all the circumstances concerning darling Kaycee hit, that Claire would meet her future husband, Greg Riley. They clicked right away and would begin to spend time together. A lot of men would see something developing as it was with Kaycee, and decide that the situation was not for them. This was not to be the case for Greg. He saw the situation as one in which he could help and that is what he did! I have no doubt that the love that had developed between him and Claire, along with her kids, left him with no other choice. How could you walk away from little Kaycee in this time of need? In fact Claire said that she told Greg on many occasions that her situation was not his problem. Claire stated that her Greg in response, just looked after her and her daughters all the more. Outstanding. What a stand up gentleman! Oh, and did I mention that his name is Greg? Why yes I did. He is the other Greg. Or, maybe I am.
As suggested before, early diagnoses are not always correct. It was only a few weeks later that more changes started taking place in Kaycee. Ones that would heighten everyone’s concern. This darling little girl started falling harder and harder. This would occur anywhere from 8 to 10 times a day and things were getting worse by the week. Can you imagine the increasing anxiety as the situation grew worse? There was no way that this mum was going to give up until she had an answer. Doctors would continue to give the family false hope and wrong answers concerning Kaycee’s plight. Claire knew that there was more to what she was seeing than just epilepsy. I am certain that she was receiving strength from the fact that Greg and her kids were standing alongside of her, but little Kaycee was in the forefront of her mind. She was insistent that the doctors dig deeper. The answer would eventually be found, and here is how Claire would describe receiving the news, “Almost a year to the day of Kaycee getting worse. Of watching her mobility go from zooming around everywhere to relying on mummy and daddy carrying her everywhere. Receiving enormous amounts of tests on her little tiny body, we were blown away by the worst news ever.”
That news brought with it the knowledge that little Kaycee had Batten Disease, the variant CLN2 or Late Infantile Battens. Just like any parent would wonder, Claire and Greg would ask. What is this disease? What will happen? How do we cure this? Claire said that their heads dropped along with the nurses that were in attendance. Their lives were changed all of a sudden by news concerning a disease that they had never even heard of. They went from having hopes of being able to control Kaycee’s symptoms to being completely hopeless. Darling Kaycee’s life expectancy was all of a sudden anywhere from 6 to 12 years of age. Their priceless princess had a terminal disease. Claire put it like this, “Our life's stopped there and then. On that Friday, August 31st, 2016. Not even our nurses knew what Batten Disease was as Kaycee was the first child they have ever seen with it.”
Can you imagine the shock of being told that your child has a rare disease for which there is no cure? Like with all parents, Claire’s reaction shows the devastation that this kind of news brings, “Our world was shattered. I couldn't walk, couldn't move, just tears and waiting for them to tell me it was a joke. We went home knowing we had 5 other children as well as family to give this devastating news to. How were we gonna tell all the other children?”
What could they do but return home and try to make sense of things? The family was sent home with information about BDFA (Batten Disease Family Association) and were encouraged to contact them. Perhaps Claire and family could receive the support that they would need from the workers there and other families that were going through the same thing as they were. This is exactly what would happen. All of sudden, they were part of a community that they knew nothing about. They would soon discover that they were not alone in this. There was help out there from a very caring circle of support. People that understood. One could only imagine the reaction of family members, especially Kaycee’s siblings, as the news was given. The princess of the family. The one that they all adored was in trouble. After a couple of weeks, they regained their focus and contacted BDFA. Can you imagine all the things that were going through Claire’s mind at that time.
It never ceases to amaze me, although it shouldn’t. The support and understanding within the Batten community is so remarkable. Only the families themselves and those that work on their behalf can truly understand what it is like to be given this news. Claire received a call back almost immediately after she contacted BDFA. The result would continue to bring about a whirlwind of events but also some hope for a course of action. The family was informed about a form of treatment that was available. It would replace the enzyme that was missing in little Kaycee’s brain, and it was part of a clinical trial that was showing a lot of promise. This was not a cure but it would improve Kaycee’s longevity and quality of life greatly. This was something that was so important. Granting her time in hopes that a cure could be found. This of course brought up some questions. Things like, how does it work and will this princess do well with it? You would have to think that Claire’s head was spinning with all this new information. Can you imagine beng Greg and having this on your mind as you try to function at your job. As for Kaycee herself, she was, of course, unaware of all that was going on around her. There was only innocent laughter and continued smiles as this was taking place. Claire was informed that there were five spots open under the compassionate use program and her princess would be one of those five. Most any parent faced with this situation would jump at the opportunity to help their child. This is how Claire would describe her reaction, “I couldn't take and hold it all in. But one thing I kept ahold of was them saying it's been proven to be able to prolong our baby's life. With holding onto those words, I knew we were going to London for the compassionate use of this drug.”
Yes, they would go to London and not to just any place. The Great Ormond Street Hospital is part of the leading edge of the medical community when it comes to children’s health. In fact the hospital is quite famous. It was founded originally in 1852 and at the time it had only ten beds. It quickly grew into something much larger. According to Wikipedia, it is the largest centre for childhood heart surgery in the UK but it doesn’t end there. The list of things that have been accomplished at GOSH is immense and their commitment to children includes those who have Batten Disease. To that, their contribution is vast. Families that have children in a number of clinical trials travel to GOSH on a regular basis at specific intervals. I am told that the families that go there become extended family to one another and Claire and Kaycee would soon find that to be true.
So it was at the beginning of December of 2016 that little Kaycee would have brain surgery to implant a shunt. The shunt would be used for delivering the chemical that replaces the missing enzyme. It was later in the month of December that princess Kaycee would begin receiving her treatments. This required that Claire and others travel on the train with their darling to London every two weeks. The level of dedication that is shown by her and all the parents is amazing. Feelings run deep, I am sure, as one might expect. I have seen so many pictures of these darling faces with bandages wrapped around their heads. This after each child peacefully receives the enzyme replacement therapy. Claire and family lovingly refer to it as the “Miracle juice”. This because it works! It cleanses the brain of wastes that would otherwise be impossible to get rid of. It has been proven to be safe and it is very effective. To me it seems that any rational parent in the same situation would do what it takes to get their child this therapy. I, however, completely respect each family that has made the commitment to help their children. As I am writing this article, it has been 14 months since Claire and other family members started accompanying princess Kaycee to London. She is such a strong little girl and did I already mention her smile? You should hear her laugh, just priceless. According to Claire, the Great Ormond Street Hospital has become their second home and I can believe that. We need a cure to CLN2 and all the other variants of Batten Disease. In the meantime, there is this wonderful treatment available. What wouldn’t you do for your own child? Claire can’t be certain what the future holds, but she wouldn’t do anything different at this point. She shared that her purpose right now is to keep Kaycee alive and pain free for as long as possible. Wouldn’t you do the same thing?
It would be wonderful if the only thing that Greg and Claire had to be concerned about was getting Kaycee to her treatments every two weeks. There is, however, a very major concern. That is whether or not the cost of the treatment will be covered in the future. Yes, that’s right. The treatment that is now being received by Kaycee and other children with CLN2 Battens could be taken away. In fact, there are children that could benefit from the treatment that are not receiving it. This because of a recent decision made by two agencies in the UK. I reached out to my friend, Lucy Faith, in an attempt to make sure that I had all my facts straight. Most people that follow children with Batten Disease know who Lucy is. For those that don’t I will tell you that Lucy and her husband Mike Carroll are parents to two of the most adorable Batten warriors that you will find (I actually adore all of these little warriors). They are actively involved in work as advocates on behalf of all the kids with Battens in the UK and abroad. She explained that the two organizations are the National Health Service or NHS and the National Institute for Health and Care Excellence or NICE. NICE is responsible for giving recommendations to the NHS on whether or not to fund new drugs and treatments. Even though there is clear evidence that this treatment works NICE recommended that it NOT be funded by NHS. This according to Lucy was based on the fact that they felt it was not a good use of NHS resources. They also felt that there was a lack of evidence, long term. Ollie’s Army (the Carroll family) along with others in the Batten community are now involved in a Battle that is seperate from the fight against the disease. They are not giving up and are joining forces to get this decision overturned. I think that this entire issue points to the fact that government agencies can be so very impersonal in their decision process. Lucy talked about the process of evaluating the evidence and I will let her share it herself,
“The pharmaceutical company, doctors, BDFA and the parent representative (us) have put in all our evidence to NICE. We then attended the meeting in January where we were met with a panel of 18 professionals from NICE. We were all questioned on our opinions, and all the evidence and proof from the trial were shown.”
In spite of clearly showing that the treatment works, a vote to recommend funding was denied. I wonder what it is like to have to live with yourself after making that kind of decision. I personally wouldn’t sleep well after that. These kids are priceless and it is the right thing to do in making sure that this treatment is available to them. A petition has been started and at this time it has approximately 82,000 signatures. They would like to have at least 100k. If you are reading this and have not signed the petition, I would ask that you follow the link provided and PLEASE sign. It only takes a few minutes.
Kaycee is one of only five children in the UK that are on the compassionate use program for this treatment. There are, however, others that receive the therapy, and there are also many here in the United States. As I mentioned earlier, there are kids that should be receiving this treatment but who are not because of the decision that was made only a couple of weeks ago. Can you imagine what it would be like to be a parent and have to face this type of thing? Claire is not sure where they stand, and princess Kaycee could be taken off of the treatment at any time. Of course kids like Kaycee are completely unaware of the circumstances that surround them. It would be our hope and prayer that this decision would be reconsidered. It needs to be.
My last blog was about James Toohey and his mum Kate. Like Claire and Kaycee they travel to London every two weeks for the treatment. Kate talked about what it is like to go and spend time with the other families while their children receive this life changing therapy. One of the things that she included was how amazing these kids are. She brought up the fact that these little people haven’t a clue as to what an influence they are having on the world. More and more, people are learning about kids with Battens and other rare diseases through social media and increased awareness. To the caring of heart, these stories captivate the individual. They are stories of undying love and sacrificial giving. (BROKEN RECORD ALERT). Yes, and the indomitable human spirit that is displayed by these kids along with the smile that each one possesses. These children are something that you cannot put a price on. Not only that, but there is something else, in my humble opinion. When it comes to human life, you do whatever it takes to preserve it. Especially when we are talking about the most precious of children. The fact that there is no long term evidence concerning the success of this treatment means one thing. You need to create it or it may never exist. Just look at these kids and you will see that it is working! IT WORKS!
I’ve said it over and over again but will continue to make my point. Every little bit helps when it comes to raising awareness, and I have my little part in that. My real reason for writing though, has always been to honor these families in telling their stories and what they face. They move forward each day under difficult circumstances. This, while demonstrating an extraordinary kind of love. There is something about these children that I find so very special. It is difficult to put my finger on exactly what it is, but they have a big piece of my heart. The words often escape me, but it is there. Maybe it, in part, is what they teach us about ourselves and how they change us. Claire told me that Greg and her children are her rocks. They steady her. It is difficult for her to be everything all at once. That is a mum, nanny, nurse, and partner. Claire keeps her sense of humor because she feels that is the best way to deal with things, and I like that about her. Greg has the challenge of holding down his job and supporting his family with all of the distractions that take place. I know that he gladly accepts the challenge. Claire says that he is a great daddy to her two younger girls and has stayed close them throughout. He is the family’s guardian angel. As a family, they will do what is necessary in support of princess Kaycee. They are so blessed to have her in their house, and she is loved by everyone that knows her, including me. That, even though I live an ocean and a continent away.
As I was drawing close to the completion of this story, I was chatting with Claire and gathering more details. It was her bedtime there in England and I wished her a restful sleep. She said thank you and told me that she would rest well all snuggled up next to Kaycee. I wish her a ton load of days and many years with Kaycee in their midst. She is so very special (as is her entire family). In fact, she is the Priceless Princess from beyond the Atlantic Ocean. As for me, I am a blogger of a different sort, and a friend to the families that make up the Batten community. This means more to me than you could know. Thanks for having me!
Blogger and Advocate
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...