“To this day I remember the nurse placing this warm body onto my chest. I looked into his eyes and instantly felt an incredible bond. As quickly as this happened however our little boy who we named Ollie, our Olliebobs was taken off of me. I was not well and was rushed into theatre. A few hours later, and thankfully, I found myself holding this precious baby in my arms again. This time I had two more bundles of joy jumping on my bed desperate to meet the new edition. In that moment I didn't feel like life could get any better.” ~Lucy Faith~ A young mum from England. I may lose some people here but I would ask that you bare with me. I had these thoughts and although I was reluctant to share them in the context of Batten Disease, I felt that I would eventually have to get them into print. The phrase “A Beautiful Tragedy” came to me one day. It, of course, wasn’t a Greg Lopez original. I did not know at the time if I had heard it before so I did a search on the internet. As it turns out it has been used for a name of an album by a heavy metal rock band. It was also used as a title to a movie about a young ballet dancer. Who knows where else it may have been used. On this particular day I had thought of it in the context of Battens. There is nothing beautiful about a tragic occurrence! Tragedy leaves people feeling hopeless and in shock over what has transpired. Questions arise as to why the events have taken place and why it involved a particular individual or group. It leaves some feeling philosophical about life and some may have questions that are spiritual in nature. I was personally thinking in terms of tragic love stories, like Romeo and Juliet. Concerning love, it is probably never displayed more boldly than it is in times of tragedy. Think about it! The emotions that pour out of these events are just so powerful. Are they not? 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. As an example, my friend Christina Bouraimi of Greece and her handsome son Theodore. He has Juvenile, or CLN3, Batten Disease. Together, they have demonstrated a Face to Face kind of love and their life together is a rare kind of fairy-tale. There are, of course, many other stories that are also beautiful. Going through such a thing can make or break a person. Adverse circumstances and events often change people and shape their character. Sometimes for the better and sometimes not. Sometimes the changes in one person can affect another. In fact, some will take the adverse circumstances that are faced and will use the experience to help other people in a similar situation. Think about people that have gone into battle and who have survived. To them, the trials of everyday life are nothing to sweat over. This because their character was formed over adversity and they have learned to not sweat the “small stuff”. Those are often the kind of people that you want next to you in life. Those of you that have been through the Batten journey or who are facing it now, tell me that this hasn’t changed you. I know that it has! Why Batten Disease? Why keep writing about it? I was, at one time, made aware and I have been passionate about the details of these stories ever since. You may ask, well what about all the other types of journeys that families take together? I really feel that families that battle Batten Disease represent all the other families quite well. Of course, there is a connection that I feel with this community. The Batten journey, and others that are like it, can be the most tragic. This, because it involves innocent children and young adults. I hate Batten Disease because I know that it produces tragic results that reside with the families that have lost that which is the most precious to them. The details of the journey stir up my emotions. This because those details express the outpouring of love towards these young warriors in an unordinary way. It is also expresses the utter love and dependence by the young warrior upon the caregiver. The bond is absolutely like none other. It has to be the most heart wrenching experience when it is necessary to say goodbye. Only the love that was expressed through action remains along with a void that can never be filled completely. Only the sweet memories of the experience can carry a person through such a thing. That and the promise that is often made to carry on and work for a cure. These kids change people and most often it is for the good of others. Yes. It is tragic but many of the details are beautiful. I know that I am a bit naive, however this is the way this outsider views things. I hope that you will allow me this! It is a tragic thing whenever a child is diagnosed with a fatal disease. It is always a positive though when treatment and progress towards a cure comes about. It is also a positive when you see people get involved and do things that not only benefit their own family, but also help others that are involved in the same fight. Such would be the case when it comes to the couple that is Mike Carroll and his wife Lucy Faith. Anybody that follows children with Batten Disease knows them as Ollie and Amelia’s parents. Ollie and Amelia have two older brothers, Danny and Micky. Neither have Batten Disease but both Ollie and Amelia were diagnosed with CLN2 Battens. They are two of the most adorable little warriors that you will find. Ollie’s Army is a very familiar Facebook page and there is a website with the same name. I first learned about Ollie’s Army from my friend Sandy. It was when I had first started approaching families about blogging about them that I was told about the Carroll family. I went to the Ollie’s Army page and took a look. I can’t remember what my first thought was but it was something like, “Oh wow, what an attractive family.” My thoughts included the fact that they were from England and I immediately started drawing a comparison between Mike and Lucy and the couples from the Royal Monarchy. I felt that those people had nothing on this attractive young couple appearance wise and so I decided that I would call the blog, My Kind Of Royalty. It was a cute and simple blog, and it was one of my first concerning Batten families. It was meant to point out the things that have status with me. I love professional sports and definitely, I love music. Politicians and other dignitaries, well, I guess I like some of them. These days, I have things other than politics and the news cycle to worry about. The things that are most relevant to me these days are performing tasks at work correctly and my work as an advocate for those who have Batten Disease. I am also a veteran and a long time supporter of our military. You’ll see this in my blog, in several places. Here are some of the things that I had to say in my first blog about the Carroll family concerning the things that are important to me, “The people that really and truly get my attention are those who battle through hardship and adversity. They can be those who have put themselves in harms way like the members of the military have. Or, they can just be someone that has endured a difficult time in order to rise above their circumstances. These days, my focus has shifted to the little warriors and their families that battle through rare childhood diseases. These kids and their families have become some of my heroes! There are a few childhood diseases that have my attention but the one that has received most of it to this point is Batten Disease.” My writing and activities on social media are born out of these sentiments. My work has grown out of those first stories of which Ollie and Amelia’s is among the most prominent. I felt that I needed to do a larger story about this family because the first blog was simple in it’s content. There is so much more to their story than what the first one contained. One thing that I noticed while gathering information from Lucy, about her family, is that she herself is very well written. She doesn’t require the likes of me to tell her own story. It is for this, and other reasons, that I so appreciate her allowing me to place her family’s story in this blog once more. From the very beginning, Mike and Lucy have sought to be leaders in spreading awareness as they battle Batten Disease. Like the other families that have been forced to take up this battle, they find themselves in the midst of adverse circumstances. I know that there has to be many difficult days but also ones that provide so many priceless memories. After all, they are parents to both a prince and a princess. For that reason alone, they will forever be royal to me. Their story would be so beautiful, even if Batten Disease was not part of it. Like with so many of these stories, it all begins with two people that fall in love and this story is no exception to that. Mike Carroll and Lucy Faith met one another as teenagers. Lucy was sixteen and Mike was seventeen. They were both working at a leisure center as lifeguards in Lucy’s hometown of Poyntown. The town of Poyntown resides in Cheshire, England. Mike lived just up the road in a town named Bollington. Although so close to one another in the places they lived, it was not until this time that they would meet. Lucy thought that it might sound a little cheesy to say so, but for her it was love at first sight when it came to Mike. Isn’t that often the way it happens? In addition to Mike’s good looks, she found him to be incredibly funny. Lucy would tell me that she felt at the time that Mike wouldn’t look twice at her. You know what? I bet it didn’t take Mike more than one look to notice Lucy. The attraction was mutual and their future together would begin then and there. One of the other things that attracted her to Mike was that he had a driver’s license and she was still too young to have one of her own. This means that he was not only good looking but he was also useful! They would go on their first date with a group of their peers and from that time on they were inseparable. From then on, there would be a lot more dates and many late night conversations. There is no doubt that they discussed a future together and all that they would want in life. Things like career goals, marriage, and having a family. You just know that with both of them being lifeguards, they had to be somewhat athletic. That would be an understatement in Mike’s case as he was a professional footballer prior to meeting Lucy. What do I mean by that? Do I mean like with pads and a helmet? No, you silly Americans. In this country we have incorrectly labeled it soccer, but in the rest of the world the sport is known as Football. Go figure! You do use your feet to kick the ball. In various places throughout the world, Major league Football is associated with clubs that produce future players through a youth system. Kids who show promise are promoted through the ranks until they reach the top. Youths are actually signed to sports contracts. This just amazes me! As an example, Mike had been playing for a club in Everton at age 11 after which he was signed to a two year contract by a club named Oldham Athletic. Mike would be hampered by injury but he continued to pursue his dream of playing at the top level of his sport. It was not only a dream but also a very possible reality as he was just that good. In fact, At one point Mike met a scout that was sent to watch him. The scout was sent directly by the manager of the Manchester United, which is part of the Premier Football League. He was just that good and it doesn’t get any better. Unfortunately, he continued to have problems with injuries. Although he would sign for another club after recovering, he would have to give up the sport as a professional. Football was Mike’s life and a long career in it was his dream, but it was not to be. He would, however, press on with life and this is about the time that Lucy would enter it. Miked continue to play. First semi-professionally and locally after meeting Lucy. Together, Mike and Lucy would start their family and an entire life together. Lucy had been studying health and social care alongside working a part time job at the time that the two of them had met, She would later receive her degree. Mike would go on to receive training in school to become a bricklayer. Now, we are not talking about brick fences and retaining walls in your front yard, although it could include that. Construction in the UK with brick is obviously very popular in residential and commercial construction. Mike had a desire to, one day, have his own company as a contractor and bricklaying seemed like a good fit. Is that a pun? I am not sure. Anyways, as they wanted a family together, perhaps his children could be part of the business if they so desired. Mike would set up his business later, in 2014. First thing first though. It is a perfectly good and normal thing for a young couple to want to raise a family. Mike and Lucy would be no exception to that. In fact, they would want a fairly large family as they both loved kids. One of the things that attracted Mike to Lucy was her attitude towards caring for others. At the time that they had first met, Mike had a nephew who was two years old. He observed that Lucy took great care with the little guy and that impressed him. It was obvious that she would be a fantastic mum to his children and we all now know that to be true! We often times do not think about the possible challenges that may come along when the kiddos start to bake in the oven. You know what I mean? There can be complications then and, of course, during their birth. Lucy would face her fair share of difficulties to say the least. She and Mike would face the difficulties together and the whole thing would begin four years after they first met. It was then that Lucy found herself pregnant with their first child. She did not get off to a very good start as she found herself to be extremely sick. This would be a sign of things to come. Difficulties in her pregnancies. At the time, she was working full-time as a nurse in a baby nursery and she was working ten hours plus per day on her feet. Mike was also working full-time as a builder and they did not yet have a home of their own together. They needed to move quickly. Her sickness would die down and her pregnancy would begin to go smoothly. That is until the 34th week. Lucy started feeling very tired and the doctor signed her off from work so that she could rest. A day after finishing work, she went into premature labor. Their baby boy had decided that he couldn’t wait any longer and he needed to make his exit six weeks early. Lucy told me that as a mother to be for the first time, she was absolutely terrified. This thinking that their baby was going to die. That feeling was probably aided by the fact that the labor room was packed full of medical professionals. The outcome, however, would be challenging but overall positive! Their little man, which they named Danny (after the song Danny Boy) was born March the 13th of 2007. He weighed 5 pounds and 12 ounces. He was kind of a little guy but that was to be expected with his early entrance into family life. They were lovingly referring to him as their “little bag of bones Danny”. Obviously he was very adorable. So perfect and complete. He had all his fingers and toes plus, he was covered in brand new baby skin. Lucy had her first child and Mike had a son! Football! Oh yes. You just know that dad was thinking about that! No one ever forgets that first child being born and for that reason, Danny will always be special! Danny would struggle to feed and would end up dropping all the way down to five pounds even. Lucy said that he was the tiniest little thing they had ever seen. The staff at the hospital had to insert a feeding tube that went from inside his nose and traveled to his tummy. In addition, they gave him light therapy. Lucy described the love that she and Mike had for little Danny, “The love we felt for him was so powerful. I spent days crying, wishing that I could make him better and take his pain away.” Things would continue to improve though for Danny. He would get stronger with each passing day and at last, the doctors said that he could go home with mom and dad. The only problem was that because of Danny’s early arrival, they had no home to go to. The final details on the house that they were due to buy had not been finished. Mum and dad to the rescue! They brought little Danny home with them to Lucy’s mum and dad’s until they were finally able to move into their new family home. I am quite sure that they were more than welcome there. Danny would continue to face challenges with his feeding as he had severe reflux issues. He could not keep his feeds down after eating. He was, however, a very happy baby. Lucy said that, much like herself, he was a bit of a late night party animal, Danny liked to stay up all night and sleep during the day. Like any new parent that is adjusting to having a new baby, Lucy thought that life was a little crazy back then. However, the challenges that they had faced up to that point were only the beginning. There was much more that lay ahead. Life moved forward for this family of three. Mike was working lots of hours as a builder and he had started playing football again on the weekends. They were enjoying being in their new home and Lucy was caring for little Danny. Things were good but Lucy was noticing that she was tired all the time. She felt, at the time, that being tired was just part of being a new mom and it never occurred to her that something else could be going on. It was only six months since Danny was born but Mike and Lucy were given the news that she was pregnant again. This is how the news was received by the young couple, “We were over the moon that our children would be so close in age and even more so when we found out we would be having another boy.” Another boy and a playmate for Danny. Another little football player perhaps. Lucy said that she sailed through the pregnancy. That is until the completion of the 31st week. It was at that time that she felt like something wasn’t right. Lucy went straight to the hospital and it was confirmed by doctors that she was in labor. This time it was nine weeks before the baby was due to be born! Oh my gosh! Doctors gave her two options. The first one was to continue with the labor and deliver the baby. Delivering him this early in the pregnancy would bring a risk of death or other issues for the baby. The second option was to use drugs to stop the labor. They chose to try to stop the labor and thankfully it worked. Their newest little man had hung in there for thirty-nine weeks. He was born one week before he was due to make his appearance. It was on June the 17th of 2008 that baby Michael came into this world to join his family. They named him after his dad but Mike and Lucy would begin to call him Micky. The name really stuck to him and he has been called by that name until this day. Micky weighed in at 7 pounds and 11 ounces. It was, go figure, a bit of a rough delivery. Micky was a bit battered and bruised, but otherwise, he was absolutely perfect in every way. There is something to be said for staying in your place as one should. Because he was so good, Micky got to go home with his family the very next day. This was very different from Mike and Lucy’s first experience and they were so happy that things went the way that they did. They were home and had two little boys! Lucy stated that once they returned home that the real fun started to take place. These two little guys were only fifteen months apart and as Lucy would put it, she “no longer knew the difference between night and day”. She would also admit that she loved every minute of it. Just as Mike had observed with his little nephew, Lucy was good at caring for kids. She loved it! Not only that but Mike had two sons. He was overjoyed! With the exception of having the same reflux issues that Danny had as a baby, Micky was the perfect baby boy. Things were really shaping up. Their boys were not only a blessing to Mike and Lucy but also to all of the extended family and their friends as well. What do you think Mike did as the boys continued to grow? What else would he do but teach them about football! He taught them everything that he could about the sport that he loved. Both of his sons started walking just before their first Birthdays. Soon after, sounds could be heard coming from the garden as the boys ran after their father. With the the football being kicked you could hear the word “GOAL!!!” being sounded. Lucy said that she could remember how lucky that she felt at the time. She had Mike in her life and he was wonderful guy. She had two beautiful sons. Her feelings towards how life was at this time went like this, “Life was full of fun and laughter and it was more than I could of ever dreamed of.” They both had career goals and a nice place to live. Along with all of this, they had plans to increase the size of their family. First though, Lucy would return to work as Micky turned one. Life was good and it continued on for this family. One thing was for certain. This couple would have no issues with infertility. Just before Micky turned two years old, Mike and Lucy received the word that she was pregnant once again. Things would move along in the pregnancy and at twenty weeks they received the word that they were going to have another boy. Lucy said that it began to become a running joke that they were going to have their own football team at their house. Who could argue that things were starting to look that way. They were so happy with this news. They wanted to have a large family and they were going to have another son! As was the pattern for Lucy’s pregnancies, so it was with this next one. Things would go well for the first thirty-four weeks. Once again Lucy would go into premature labor. I wonder what her thoughts were at this time. Something like, “here we go again!” They were given the same option as before and that was to use the drug that is necessary to stop the labor. They went for it as it had worked well the previous time. It did work well only not without complications. Lucy said that all was fine with the baby but she herself had become unwell. She had to stay at the hospital for a few days after receiving the drug but would recover and return home. It was, however, after a few days that that she began to feel unwell again and she had to return. After receiving a few scans, it was decided that they should go ahead and deliver the baby. Their little baby boy was born four weeks early and he weighed 6 pounds and 5 ounces. This took place on the 13th of January of the year 2011. Ollie was born. A prince unaware. It never ceases to amaze me how mothers remember things about their children that are so specific. Of course Birthdates but sometimes also specific times and exact weights. Mums are like that. They remember specific things that happened with each child and feelings that were felt. I used the following as my opening quote but it fits perfectly here and it is so worth repeating. From Lucy, “To this day I remember the nurse placing this warm body onto my chest. I looked into his eyes and instantly felt an incredible bond. As quickly as this happened however our little boy who we named Ollie, our Olliebobs was taken off of me. I was not well and was rushed into theatre. A few hours later, and thankfully, I found myself holding this precious baby in my arms again. This time I had two more bundles of joy jumping on my bed desperate to meet the new edition. In that moment I didn't feel like life could get any better.” Due to issues with Lucy’s health, she and Olliebobs had to remain in the hospital for an additional four days before they brought him home. Lucy said that she was thankful for the time that she had with Ollie in the hospital. Four days for time spent just with Ollie. With each one of her boys, there was difficulty but the results made what she would have to go through so worth it. Three boys! She was definitely at this point, well outnumbered, but she was okay with that! Lucy said that even at the very young age that they were, Danny and Micky took very good care of their mum after her return home. She went on to say that they gave the best kisses and warmest cuddles. How wonderful these guys were as they continued to grow. They were and still are, great big brothers and man! Can they kick a football or what? Mike was continuing to work hard for his family and he had started working towards setting up his own business. As stated before, he felt that it would be possible for his boys to join him in the business one day if they so desired. That would include their new little man that they named Ollie! Lucy continued to care for Ollie and the others but also added to that the pursuit of another degree from the university. This one in Care and Education. She, along with Mike, was driven towards achieving their goals. They had three little boys and yet Lucy continued with her education. It was her third and last year of her degree. She said that she spent that last year juggling all her responsibilities. This included night feeds along with assessments for school. This not to mention potty training and all the other things that mums do for their kids. Just amazing! That is enough to wear anyone out but as Lucy began to get tired she knew something was up. It came as a complete surprise this time but she again received the news that she was pregnant. Lucy said that her and Mike felt a little nervous this time. After all, their boys were still so young. Soon, their nervousness turned to excitement over the fact that they were going to have another baby in the house. They loved kids and couldn’t wait. Lucy said that they were well aware of the need to keep a close eye on this pregnancy, given her prior history. They had a lot of extra scans done of this baby and the bond with this little one was intensified by having them done. Lucy put their feeling in this way, “We had lots of extra scans and bonded with our little baby even before it was born. We watched this little wiggle on the screen get bigger and bigger each week, waving its arms and kicking its feet! It was an amazing experience.” Twenty-Four weeks into Lucy’s pregnancy they received the news that their next baby would be a girl. With that, the family’s aspirations for raising up their own little football team were gone forever. There would be no team but they were having a GIRL and they were so very excited!! The excitement spread to all three boys and as a family, they were “over the moon!” A daughter and a little sister. Everyone was so happy! The joy, however, was short lived as only three weeks later complications set in. It was at that time that Lucy started feeling unwell again. This happened while out shopping and panic hit everyone. Lucy said that Mike, being the person that he is, was absolutely amazing. He kept the boys calm while getting in contact with Lucy’s mum who took her to the hospital. It was confirmed while there that Lucy was yet again in premature labor. Oh my gosh! This time it was 13 weeks before their little girl was supposed to be delivered. As Mike was rushing back to the hospital, Lucy received some very unsettling information. She was informed that if she was to deliver their baby at this stage, the baby would most likely die. She was again offered the drug that had been used twice now on her. She of course said yes! This time, however, there was an addition complication. Things went drastically wrong. Once given the drug Lucy was sent into anaphylactic shock. That being a life threatening allergic reaction. The hospital room was filled with medical staff who worked to save Lucy’s life. As Mike arrived, he stepped into a hospital room that looked like a scene from a movie. Lucy said that, like always, Mike was her rock as he brought comfort and helped her through her fear! The doctors and nurses managed to stabilize Lucy and her yet to be born girl managed to stay put. Over the next few days Lucy was ordered to bedrest. The doctors warned her that her baby could be born at any time and said that she needed to stay in rest. Lucy said that the days would turn into weeks and their unborn daughter stayed put. It was then that Lucy was allowed to return home with instructions to not move. Lucy stated that her ability to remain still enough with three little boys running around was nothing short of a miracle. Their baby girl hung on for thirty-eight weeks and it was then that she made her own little dramatic entrance into this world. It was an extremely difficult birth and their daughter had to be resuscitated. This was terrifying to her. Lucy's sister had accompanied her into the labor room this time. She still remembers the look of terror that was on her sister’s face and said that she will for the rest of her life. Lucy was not allowed to hold her baby girl as she had been so used to with her sons. Instead, she was taken away. They took her from her mum for an hour and while that doesn’t sound like a long time, to Lucy “it felt like forever”. She was in the theatre (labor room) and had not known where her baby girl was. All she knew was that Mike had taken off after her as their daughter was taken from the room by hospital staff. The baby princess would of course be returned to her mum and amazingly, the doctors informed Mike and Lucy that their daughter was perfect! I had quoted Lucy in the first blog that I did about this family concerning what she was feeling as she held her daughter for the first time. Here is what she had said, “Breathing in that amazing newborn smell, feeling that warm breath on your skin, counting them tiny little fingers and toes. We had just been handed our beautiful baby girl, after a complicated pregnancy, and nearly losing her during labor.” They were now a family of six as the final piece was delivered in the form of this most perfect little package. She was absolutely beautiful. Lucy had this to say about their daughter after her chaotic entrance into this world, “She lay there looking up at me and Mike completely oblivious to the drama which she had created. Little did we know that this would just be how our little girl would roll.” They had known in advance what they would name each one of their boys before they were born. Things were different with their new princess whom they had not yet picked a name for. Instead they spent hours looking through names trying to decide what would be a fitting name for her. She was to them so perfect in appearance! Finally, the name that was as perfect as their little girl was chosen. Amelia Faith Jasmine. She had been born on the 4th of March in the year 2013. She weighed 6 pounds and 13 ounces. Lucy said that they had never seen a more beautiful baby. This was confirmed by the fact that medical staff was stopping in to see her. They knew about her dramatic entrance into the world and were amazed by how utterly perfect she was. It was at this point that Lucy felt that their life as a family was complete and she looked forward to all of the precious memories that would be formed. So much had taken place during all of her pregnancies but they had all made it through. Lucy would tell me that the boys fell in love with their new little sister the moment that they laid eyes on her. In fact, they promised that they would look after her no matter what. There was no jealousy, just brotherly love and kindness. She went on to say that her and Mike felt blessed, thinking that they had the perfect little family. The running joke that they would one day have a complete football team had been broken up by the appearance of little Amelia. However, there were still three boys that most likely would pick up their father’s passion for the sport. As they continued to grow, it became apparent that football would be the king sport at the Carroll home. Even though it was early, so many memories were already being formed. The possibilities for what the future might hold were endless. A family formed by two hard working people, three charming little men, and a little princess. Lucy described the atmosphere in the home so perfectly as the children continued to grow, “Our house was always full of laughter, with children running around and playing. You couldn't walk a foot without tripping over toys. So many things got broken as the boys kicked their footballs around. Danny would spend hours training Ollie up to be just as good at football as he was. To this day I remember his shouting "Ollie heads, Ollie kick, Heads again Ollie. Yes that's it, yay, you have scored!" The cheers and the excitement that warmed our hearts.” Their life together was a beautiful story in the making. In fact, it was already beautiful. Every family faces problems along the way. That is always to be expected. Mike and Lucy had faced some significant challenges but had made it through. They had their family in place and the future looked nothing but bright. They had many a conversation about what the future might look like and they talked. They talked about all that they would look forward to as parents. It was the type of atmosphere that dreams are made of. In the back of their mind, and in the forefront of their conversations, were all the life events that one would think of for all of their children. Neither of them had any idea what the future would really hold, or what additional challenges that would lay ahead. These were sweet times for them and their days were filled with joy and laughter. Lucy would say as much using the following words, “Without wishing the time again we often spoke about what they would be like as they grew older. Three brothers and a little sister. We laughed wondering if Amelia would love or hate having her brothers looking out for her, making sure no boys could get near.” With only a couple of exceptions, the families whose stories I have shared had no idea that a wretched disease such as Battens even existed. Without any warning, life at the Carroll residence would soon change forever. What one would normally expect, was not to be. Lucy conveyed that truth with the following words, “Little did we know that the future which we dreamed of would never be.....” I will share the rest of their story in my next blog. Forever Royal. To be continued…..
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“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.” ~Claire Bradshaw~ 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!
~Greg Lopez~ Blogger and Advocate “He is by far defeating the odds and we are extremely proud of him. Please ask me anything else as I would like the world to see that James is the walking talking living proof that this treatment works. He needs to carry on with receiving it.” ~Kate Toohey~ James’ Mum What is Batten Disease? Just ask the parents and they will tell you. This because each one is forced to become an expert on the disease once their child is diagnosed with it. Previous to that point, most had never heard of Battens. While searching for answers, many will see several physicians and their child may be misdiagnosed more than once. In fact they most often are. Once the truth is found the diagnosis brings with it the devastating news that their child has a fatal disease for which there is no cure. Almost without exception, each parent starts to research the disease in hopes that knowledge of Battens will make a difference. It is also true, that they just want to know more about that which they previously didn’t even know exists. As a family, Batten parents were enjoying everything that comes with being the recipients of a young child’s love. Not just any child but the one that they had dreamed of having in their presence. Then, almost all at once, their lives were changed. Some go on exhausting searches in the beginning, while others find answers more quickly. Like with most anything else, the sooner the answer is found, the better it is. In the case of a child with Batten Disease, the benefits of knowing the truth early can make a big difference in their health and in knowing what care to provide. As I have stated previously, it is the love demonstrated by Batten families that has given me a desire to tell their stories. The amount of sacrifice that takes place is so noteworthy. Most often it involves a financial burden that requires private fund raising. It always involves time and an extensive amount of caregiving. Often times, there are procedures that have to be performed at home by the parents and there is usually several medications that have to be given. Many days are often spent away from home when medical care is required in a hospital. As a family, one or both parents do whatever is necessary to help their little warriors press on. Regardless of how the disease has progressed or what they are facing at the time, Batten families do whatever it takes to serve the best interest of their child. It is the details of this type of love that often brings me to a level of emotion that I otherwise would have never experienced. I want to empathize with Batten families as best that I can. Mostly, I want to honor the sacrifices and talk about them as a community. All of you, as families, experience the difficult circumstances and you feel the emotions personally as a result. For me, and the others that follow your journeys, we see the sweet details of your love towards your child. I think that I represent those of us that follow the Batten community well when I say that you are some of the best examples of sacrificial giving that one could offer. Yes, it is true that you are just being parents but you have been asked to do so much more than most will ever be asked to. It is my goal and my desire to tell as many people as I can about what you all go through. So again, what is Batten Disease? I am learning as I go. The disease involves things like seizures, blindness, and also progressive neurological impairment. I know that there are different variants of the disease and that it involves genetic material that is inherited from both parents. It is rare because both parents have to be carriers of the same defective gene and that rarely happens. I have read the statistic that says 2 to 4 cases occur in every 100,000 births in the U.S.A. While that does sound rare, the prevalence of the disease seems to be greater. The disease does not seem to be that rare if you follow these families and you personally know about the number of children with Battens. There is a severe lack of funding for research because of the fact that the disease is considered to be rare but some great progress has been made in spite of that. This because of the work being done by some concerned individuals both in the medical community and in the private sector. Gene Replacement Therapy offers hope for finding a cure for some of the variants but it carries with it a hefty price tag. I hope that one day the clinical trials that are being performed bring about real change. We need a cure! One of the most common forms of Battens is Late Infantile Batten Disease or the variant CLN2. It happens to approximately 20 precious children in the United States alone each year. Add in the rest of the world and the numbers are much higher. Although parents of these children are still looking for a cure, there is a form of therapy that has been made available to them in a clinical trial. It uses a solution that has been produced that serves as a replacement for a missing enzyme within the child. It is injected directly into the brain through a port, much like they would use in oncology. Many of the families that I follow, here in the U.S. and abroad, have children that are recipients of this therapy. It is working wonders. It is generally administered to the child every two weeks at a facility that is equipped for the procedure. It often times requires travel on a regular basis. Sometimes, it requires moving to a different area within the United States and some families have even moved to this country to have their child treated. Similar things happen in other places. Sacrifice! Every family’s story contains a mixture of difficult times and sweet details of tender care. As such, it is an absolute joy to see kids that are thriving as a result of this therapy. There are some stories that are exceptional and I would like to share one with you. My new friend Kate Toohey, of Liverpool England, contacted me late last year because she wanted her son’s story told. His name is James but he is referred to affectionately as Jamesy Boy. Now when the city of Liverpool comes to mind, it makes me think of a famous group of musicians. You may have heard of the Beatles, right? Maybe I am dating myself but I think that everyone knows who they are. Maybe you are a sports fan and you love Soccer. Um, it is actually called Football. Well two of the Premier League Football teams reside in or nearby Liverpool. That would be the Football clubs of Liverpool and Manchester. I could share more about Liverpool but I would rather talk about this little guy named James and the impact that he is having on his family. Let’s get to it. Kate has shared several videos of James running and playing as any child would. That is because she wants to place emphasis on the fact that her son is thriving and doing so well. This in spite of the fact that he has the CLN2 variant of Batten Disease. Things weren’t that way earlier on but after a quick whirlwind of events, Jamesy Boy is turning some heads and putting smiles on a lot of people’s faces. And Kate? Well, she has discovered a community that has had a tremendous impact on hers and James’ circumstances. I will do my best to give some of the wonderful details as I tell the next story. The following story belongs to James, his dear mother Kate, and their family. It also belongs to those caring individuals that work within the Batten community to affect change. James John Toohey was the most perfect little baby as he made his appearance into this world. This happened on a Saturday, the 7th of May 2011, at 12:46 pm. As life would have it, Kate would start parenting as a single mum. That doesn’t mean that she was all alone though. With her at the time of James’ birth was her own mum Margie and her close friend and sister-in-law Natalie. All together, they were elated over the presence of Kate’s little prince. He came to them with all his fingers and toes and yes, he was covered in brand new beautiful baby skin. So perfect! Kate had expected James to be a big baby, however he was delivered to her weighing in at 5 pounds and 13 ounces. His smallish size did not matter one bit except that he was swimming in the clothes that Kate had purchased for him. When the staff brought James back to Kate, he had a tiny white hat on his sweet little head. It was tipped slightly over one of his eyes and this made him look all the more adorable. She still remembers what she was thinking as she held her new little man in her arms, “So adorable, so innocent, and I was responsible for him…” Although she was a little intimidated by the new responsibility, Kate anticipated, with excitement, all that was ahead for her and James. Having baby James in Kate’s life fulfilled a desire that she had held for a long time and being a single mom didn’t bother her one bit. In fact, she welcomed the opportunity. In her own words, “I always wanted to be a mum. I was the one to go for the baby of the family at parties. I loved being a single mum to be honest, having him all to myself was amazing. He wasn't spoiled and slept in his own little room. We had a great routine.” According to Kate, James was a happy little guy who didn’t cry too much. He was a welcomed part of a good sized family. Kate would tell me that she has amazing parents. Married to her mum Margie is her wonderful father, Jim. she has a sister named Laura and two big brothers named John and then David. The marriages of her siblings brought nieces and nephews to this growing group of people. In other words, they were a family. As James continued to grow, he would add much joy to this growing family. Especially to his mum. He was such a happy little guy and and he was a pleasure to be around. I am sure that Kate had many thoughts and dreams about James’ future. Who would he grow up to be? What would he become? As part of the family James would of course have cousins to grow up with. In fact, Kate’s sister Laura had delivered a little boy just six weeks before James was born. His name was Thomas and he would become known affectionately as Tom Tom. The presence of Thomas would of course create an opportunity to draw a comparison between his and James’ development. It was at about ten months that Kate noticed that James was slower at reaching his milestones than Tom Tom was. Thomas was up and and trying to walk and he was eating a more varied amount of things than James was. James was up and walking at 20 months. It was also at that time that he had only begun to use a few words such as hiya, mummy, oh dear, and no. James and Thomas spent a lot of time together as both of their mums were quite close. The differences between the speed of their development was obvious. Being a small baby at birth, and having some minor issues early on, the family felt that James was just “catching up”. While some kids do develop their skills slower than others Kate had questions about what she was seeing. As she would put it, “I think deep down I knew there was a obvious difference.” She remembered speaking with her uncle concerning James and the differences that they were seeing, “I remember a conversation with my Uncle Peter and he didn't want to bring the subject up about James, thinking maybe he was slightly autistic. I was glad he did as he helped me admit it and at an early age. I think I knew, James was different and was his own unique person.” Perhaps at this point Kate was thinking that she had some special challenges ahead of her with James. Whatever the case might be, she would handle it with the support of a loving family. She had no idea that the differences that she was seeing were a precursor to a condition that she had never heard of. The future challenges were greater than one would expect. This little guy was more special than Kate could know at the time and his future impact on family and friends was yet unseen. This, not to mention the fact that James was just so adorable. His story would begin to complicate, but it would also bring with it details that are sweet and so very special. It was three months before James’ third Birthday that a major event would take place. He had a seizure while he and Kate were at her mum’s house, along with Laura and Tom Tom. The seizure was approximately 20 minutes in length. Kate was not sure what was going on at the time. She just knew that things were not right with her Jamesy Boy. At the time of the seizure, James was was lying on the floor and was stiff as a board. He had a strange smile on his little face and his eyes were locked to one side. Besides all that, he had a small groan coming out of him. Kate had picked James up as her sister jumped to the phone to call emergency services and she remained calm while holding him close. They were told by emergency services to lay him down as he could be having a seizure. Kate said that as she did that James’ little body started moving erratically with his arms flailing and foam coming down the side of his face. She would tell me that it felt like forever until help arrived. As the ambulance got there, James was blue lighted to Children’s hospital in Liverpool. How scary this entire event must have been for the entire family. The differences in James’ development and then the advent of the first seizure must have left Kate wondering what the future would hold. As James was seen at the hospital, the family was told that he had a high temperature and an ear infection. The seizure was attributed to that. This is all sounding too familiar. James was prescribed antibiotics and the family was sent home. Not knowing what was ahead of them, they were comfortable with what they were told and Kate was happy to leave the hospital. As a family, they carried on with life but Kate had a question stored in the back of her mind. That is, what if it were to happen again? She continued to keep her eye on James and checked his temperature routinely. James would have another seizure a week or so later. This while walking from the house to have a picnic with her sister Laura and Kate’s niece and nephew, Evie and Tom Tom. At the time that it happened, James’ head tipped back in his buggy and Kate knew right away that he was having a seizure. This was difficult as the two other little ones, Evie and Thomas, were also with Kate and Laura. They needed to stay calm for the children’s sake. They quickly returned home and James was seen by paramedics after which he returned to normal. Kate said that she knew that this occurrence was not having to do with just an infection and high temperature. A trip to james’ doctor was scheduled. I am positive that the level of concern that Kate had for her son was growing by the day. Obviously, there was something more going on. James had an appointment to see a doctor for a different issue at a local children’s hospital. While playing with another child in the waiting room, James would have yet another seizure. It was after this that doctors had James sent for an MRI. They also requested blood tests. After waiting for the results, Kate and family were informed that James had a form of epilepsy. They also wanted to look into autism. The neurologists who viewed the results of the the MRI scan had seen something that he didn’t like and he wasn’t sure what form of epilepsy he might have. This also resulted in more tests for James. It included more blood work being done and this time it would include Kate. Kate said that it was at this time that she was informed that James could have something called Batten Disease. She had never heard of it and had no idea what it was. Her mum, however, did. Margie had recently seen a television program that talked about a little girl named Amber that had Battens. (sweet Amber would eventually lose her battle to the disease). Margie, therefore, knew what the disease was and she was terrified over the possibility, however, she kept things to herself. I am certain that she kept it to herself in order to not upset her daughter and in hopes that the testing for Battens would come back negative. During this time, they were introduced to the neurologist. His name name was Dr. Iyer. According to Kate, Dr. Iyer was a very positive and pleasant individual. He informed Kate that there was a 50/50 chance that James had the disease. His testing was was first to include Battens in order to eliminate it as a possibility. The family had to wait 4 weeks or 28 days to receive the results. In one comment, Kate referred to this period of time as “28 days of hell”. Who could argue that it wouldn’t feel that way to any young mother. Kate was told to not research the disease but she knew that it wasn’t something that carried with it a good prognosis. It was time to learn of the results. Kate had planned on being accompanied by her mum, sister Laura, and her sister-in-law to receive the answer. Kate took the bus to meet her family at the hospital. She still recalls her feelings on that bus ride, “I remember the bus ride and not wanting to get to the stop”. Who could blame her for that? She would go on to say something that signifies what must have been felt at the time by all of them, “no words were said when I saw my family. We just walked together towards the hospital.” Their silence actually spoke volumes as to the tension that was being felt. Once there, Kate’s sister-in-law was asked to watch James in the reception area while the others talked to Dr. Iyer about the results. On this day, the normally upbeat doctor was not smiling. The doctor had news that no one would want to deliver to a young mum. Doctor Iyer never really told Kate that James had Batten Disease. When kate first saw the doctor she said, " he's got it, hasn't he?" With a tear running down his face, this very caring physician simply nodded his head, confirming the fact that James had Batten Disease. Kate said that with that her sister Laura fell to the floor and her mum screamed. As for Kate’s response, she simply stated over and over, "my baby's gonna die". She told me that she wanted to know how and when the end would come. Would she wake up one day and find James in his bed, gone to eternity? Kate describes what her thoughts were after receiving the news, “I always said that it felt like a soap opera where you see something tragic happen. The family is told and someone falls to the floor. It looks so dramatic. This time it wasn’t a soap opera. It was my life.” The diagnosis took place on 28th of July in 2014. I have done a number of these stories now. In the vast majority of them, the diagnosis of Batten Disease comes within a varying length of time and never quickly. In some cases, the truth is found out in a few months but there have been some that take a lot longer. When that happens it involves false diagnoses and a lot of tension and heartache for the parents. It seems that in those cases, the news gets worse as time moves forward. Think about the difference it makes when you receive a quick diagnosis. Even though Battens is fatal, you can deal with the symptoms more quickly in a more effective way when you have the answer sooner. There are stories out there that are just nightmarish. Long searches for answers. As stated at the beginning, James was diagnosed with CLN2 or Late Infantile Batten Disease. In a span of only four months from the time of his first seizure, the family had their answer and they were given some hope concerning a treatment that was available. It showed real promise. Not a cure, but something that would greatly improve longevity in hopes of a cure. Having a medical community that is well informed and is knowledgeable makes all the difference in the world. Doesn’t it? Kate would describe perfectly what transpired after receiving the diagnosis, “Straight away, Dr. Iyer wanted to inform me of a chance of hope, the trial. He asked me to return in a few days time and we could talk bout it. A few days later, myself and my oldest brother John along with James, returned to see the doctor. He informed us of the trial and that he had already spoken to the doctor leading it at Great Ormond Street Hospital. He had only just heard of the trial and wanted to make sure James had a chance of making the trial as he was the perfect candidate. To be part of the trial the child needs to be able to speak a certain amount of words and be able to walk unaided. As Dr. Iyer knew, James could do all this and more. In a way it was a blessing that he was tested for it first as it gave him the best chance with this treatment.” So bracing for the worst of what might happen, Kate had the hope of this clinical trial that was just starting. Thanks to a physician that cared greatly and progress that had been made, a treatment was available. The enzyme that was not being produced in Jamesy Boy’s body would be replaced by a material injected into his brain. Due to the quick diagnosis and the perfect timing, he would get started at just the right time. Would all this make a difference? You just know that the answer is yes! So Kate, with the support of her wonderful family, made plans to move to London. They would begin the trial in December of 2014. This would include surgery to implant the device needed for the infusions. It was right after the diagnosis that Kate was informed about an organization that could offer her assistance with what her and James were facing. The organization is BDFA or the Batten Disease Family Association. Concerning their mission, they state the following, “to enable everyone who is affected by Batten Disease to live life to the full and to secure the care and support they need until a cure is found.” Kate was soon to find out just how very caring and supportive the staff at BDFA was. In the process, she would meet a very special person. Kate would also discover a community full of compassion towards what she was going through. There is also no doubt the tender care of a medical community at Great Ormond Street would become a blessing to her and James. Everything changed for Kate in an instant as James was diagnosed with Batten disease. In her own words, “From then on life was different, everyone was different. Family and friends organized events and raised awareness and money for James and the BDFA. Then it was time to move to London.” They sent James off by first having a fancy dress party for him as they had no idea how long they were going to be living in London. Kate said that it turned out to be an amazing day for James and all the family. Initially, her sister Laura and her mum came to stay with kate and James. Her brother David drove them to London with all of their belongings. Packing everything up and moving to the other side of the country was a difficult task for her, however she really had no choice. Kate got down to business and got things done. She was, up to that point, always with family and friends but was soon to be alone with James in a city that was strange to her. This is how she would put it, “Always having another child or a mate with me, it was so hard moving so far away. At first it was like being on a different planet. Being from a pretty big city, I thought we would adapt but we couldn't. We had to get on with it though, we had no choice.” When I was talking to Kate about doing hers and James’ story, I had some ideas on who should be included. She thought things through and talked to family and she wanted to make sure that one individual in particular was included. She said that the name of the person that she wanted to include was a lady named Mel Hall. My eyes lit up when I saw this in my chat window. This because I was a facebook friend of Mel’s but I had never got to know her all that well. I knew that she was a Batten mum but that was about it. To Kate, Mel was a very important person and I wanted to know why. In fact, she referred to Mel as “her rock”. I learned why that was after reading what she had sent me on Mel. Kate said that she was numb from all that was going on at the time that she was told about BDFA. It was at that time that her sister Laura had decided to come and stay with Kate and James for a while in order to help. Laura had felt at a loss, watching Kate being so vulnerable and James just being James. Kate felt that she couldn’t face explaining things to the BDFA representative so Laura stepped in and explained their situation. Once they had gotten settled into London, Kate was asked if it was okay if she met with a BDFA support worker named Mel Hall. She was worried as she didn’t want to speak with a stranger. After all, how could she possibly understand what Kate was feeling at that time? She reluctantly scheduled a time for her and Mel to meet at their apartment in central London. Mel was having a difficult time finding the apartment so she rang Kate’s phone. This fortunately broke the ice, and once she arrived the conversation began. She wasn’t sure what it was but Mel had a presence about her and she took to James right away. She would later grow to adore James and I think there is a big reason for that. They talked over coffee as they began to chat (Mel loves coffee). Kate said that she can’t remember the exact words with which the conversation started with but she said that it went something like this, Mel said “How do you think me being here will help'” and Kate, in response said something like, “You can’t know what I’m feeling if you’re not going through it.” Mel, in response simply said “I do know”. In fact, Mel did know exactly what Kate was feeling! Mel had experienced much as she was a grieving mum that had lost her precious son Matthew at age 7. She had dealt with Battens in a much greater degree at the time her and Kate met. Matthew’s battle took place in a time when there was much less awareness in the UK and in other places. Like many other families, Mel had to go on a search for answers. She faced the agony of not knowing what was taking place with her son and then the devastation with the news. Matthew had Batten Disease. The clinical trial that was available to James at the very beginning was never available to handsome Matthew. When Mel expressed to Kate that she knew what she was going through, she really did and then some! All of that experience was available to Kate. This because Mel had taken the tragic circumstances that she had experienced and turned them into an opportunity to help others. She was there for Kate in a big way. This is the way that Kate explained it, “She didn't want to tell me but I did ask, was she a Battens mum. She then told me about her battle and the story of beautiful Matthew. She never pushed it, she let me ask questions. Things that were probably the worst things in her life to experience. She shared them with me. She didn't shy away from the truth and that's what I needed. She knew what type of person I was, and even as a young single mum. she was extremely shocked at how well I was dealing with a huge life change.” Kate would tell me that Mel became her go to person and she would become very active in Kate and James’ life. She helped to secure James’ first disability buggie and she got an Epilepsy alarm for if he had a seizure during sleeping hours. She arranged for them to all visit a beautiful hospice facility together and it turned out to be a wonderful day for Kate and James. Kate said that Mel arranged for James to receive an ipad from an awesome charity. James unfortunately lost it on a train so Mel arranged for him to receive another. James still has a pair of pink sunglasses that he took from Mel’s purse. Kate continues her sentiment about Mel with the following words, “She is and always has been the person I get my strength from. She is able to come and support, comfort, explain where it hurts. She also shows you a determination to not give up.” Mel exemplifies the character that I see in so many people within the Batten community. What impresses me about Mel is how she has taken her own experience and grief and has used it as motivation for a career that benefits others. She is truly special. Mel now works at a children's hospice full time. In fact, it is the hospice that helped her son Matthew while he was battling Battens. Kate goes on, “I miss her and really want her to see James and how fab he is now. I know he would remember her. She is a woman of strength and passion and she does that for Matthew. She has stuck to that promise she made to him to fight always and he would be extremely proud of her. I honestly love this lady with all my heart. I haven't seen her for a very long time but I know she's always there. She came into my life at a really hard time and she still doesn't understand how much she helped and still does. I knows she’s there all the time no matter what time and I’m always in awe of her.” You know Mel? I am a little in awe of you as well. Everything that Mel does is for her Matthew and the other children. Just amazing! Oh, and by the way Mel, I love coffee too. There would be other hurdles to jump over after moving to London. The biggest one was the surgery to implant the device. The night before was a sleepless one and there was much anxiety. Kate had questions. How bad would James be scarred? How much pain would he be in? How was all of this going to affect his life in general? Kate knew that these were questions that she couldn’t answer. When it came time for the surgery, there were only so many people that could go near the operating room. Accompanying Kate and James was Kate’s dear father, Jim. As they were leaving sister Laura and Kate’s mum behind, James shouted “Bye Laula”. According to Kate, this caused her sister, and no doubt mum, to hit the floor. She was so upset and who could blame her? After all, this is a family. Their fright was turned to pure joy though as Jamesy Boy’s surgery was a complete success. Kate would look on as the doctors worked on James. She described what she witnessed in this way, “That wasn't a nice experience. Watching doctors with all the medical gowns on. Seeing the tiny needle with the machine and wires. I was terrified.” The doctor returned to the family having a huge smile on his face. Everything went perfectly. Great news! James surprised everyone with the speed of his recovery. His family thought that perhaps he would be in bed for days after the procedure. That was not to be the case as he was up and running the next day! After that began the regiment of treatments which would take place every two weeks. It was time to settle into a routine and to live life away from home as best that they could. Kate’s family stayed involved long distance and I know that they would drop in as much as they were able. It was always her desire to return home and from there they would make the trip to receive James’ treatment every two weeks. They had figured on Kate and James needing to live in London for at least a year and it actually took almost two years before they could move back to Liverpool. One of the big obstacles is that they had to find a suitable dwelling place. One that met the needs of this little guy that loves to run and play. Kate had a desire to get James home to Liverpool and have him enrolled in school. She also joked that at that time, James was losing his Scouse Liverpool accent. She needed to get him home for that reason as well. Wink wink. This would all come in time. This is not to say that they did not enjoy their time in London. Family would visit and they would see the sights together. What was amazing to Kate is that which I already suspected was true. That is the relationships that were built with the hospital staff and the other families. Kate talked about what took place after they were moved to the research facility at the Great Ormond Street hospital, “After about eight months we were moved to the research facility at Great Ormond Street. No more intensive care. Being in the actual research part of the hospital we were all a big family. All the parents know each other and we’re all on first name terms with nurses and doctors. Families get to know each other from different trials but we’re all in it together. James has many friends at the hospital and it’s so adorable. To see all the amazing children who haven't got a clue what an influence they are having on the world.” You know what? I live in this world and yes, I have been heavily influenced by what I see in these children. Even from an ocean and a continent away. Everything would come together and the family would find the perfect place for meeting their needs. So after almost two years they would make the move back to Liverpool. James was enrolled in a special needs school and Kate says that it has worked wonders. They would not say goodbye completely to London though. Jamesy Boy is back at Great Ormond every two weeks. He puts smiles on everyone’s faces as they see him running down the halls of the hospital. If it wasn’t for the treatment that he is receiving this would not be possible. A big part of why this article has been written is to help tell the world that this treatment works. It also tells people about the importance of being diagnosed early. Awareness is key! Kate is so proud of her guy and all that he can do. Here is how she puts it, “James has been on the treatment coming up to 3 years now and we can actually say it's working. James can still see perfectly. He can walk unaided and runs extremely fast. He can speak over 80 words and has small conversations with understanding. He can sing and dance, and he can count to 15. He can also eat everything orally.” More and more, Kate and her family are amazed by the strength of Jamesy Boy. The kids, in general, that are are being treated under this clinical trial are achieving amazing results. James’ memory is off the chart when it comes to kids with Battens. He constantly repeats the things that he hears his mum say and he remembers who people are. One example is his nurse Jodie. She had gone away for a maternity leave for over 12 months. James recognized her the instant that she returned. He inspires everyone that he meets and he is such a charming young fellow. Can you tell? People who know what Batten Disease is and who meet him for the first time are amazed. He is very inspiring! The most important people that James inspires is his own family. Everything that he achieves, every day that he amazes, is another day of very special memories. Memories that would otherwise be replaced by different (although still very special) ones if this treatment was no longer available. We still need a cure to CLN2 and the other variants of Batten Disease. Until then, the clinical trial that James is undergoing is doing wonderful things. Each one of these kids is an individual treasure and they need to be treated as such. Yes, it is a fact that these kids have no idea how much they inspire the people that follow them. I know that I am greatly inspired, from an ocean and a continent away. In fact, this blog has become dedicated to telling their stories. It will continue to be that way for as long as I am allowed to do so. That is a heavy commitment but this is where my heart is. This is all because of kids like Jamesy Boy and parents like Kate. Thanks for taking the time, ~Greg Lopez~ Blogger and Advocate “My life was completed that day. We had two girls and finally, my boy. My life was at the highest. Grade School hottie as my wife. He was gonna be my fishing, hunting and farming partner.” ~Brad Scarpetta~ A Warrior’s Daddy When it comes to this blog and it’s content, what you have read is genuine when it comes to expressing my feelings. If you know me the way that I would like to be known, you will feel that my heart is in the right place when it comes to the families in the Batten community. I think that for the most part, the feedback has been positive and most people appreciate what has been done so far. Those that know me can see that I love my special needs son Benjamin to the moon and back. Yes, I guess it is true that perhaps I talk about him a bit much. He is, however, the center of our world at this house. Benjamin had genetic tests and an evaluation done on him when he was much younger. The doctor could not give him a diagnoses at the time but she felt that there was evidence that his disorder was degenerative. As he has gotten older, things like his mobility have been affected. He now needs help getting around for even the shortest distances. There are other issues that cause concern. Where I am going with this? My point is that he needs us in a big way for his daily care. I don’t ever want to think of him as a burden. He can be just a pure joy to be around and the bond between us is so very strong. He will be with us for as long as we are able and it may be a race to the finish line. Having Benjamin has increased my sensitivity to people with special needs and I think that lends itself to my sensitivity to those with Batten Disease. That, of course, came after I was first made aware. My heart goes out to Batten families, and actually, you have a big piece of it. The journey that you take is one that is unique. I repeat details about how I feel concerning the Batten community routinely. It is normal to repeat things when you want to place greater emphasis on them. Is it not? So when I repeat my feelings about the course of events that take place in your journey, I do so because I feel they are noteworthy. The undying love that is shown. The initial trama of receiving the diagnosis and how it gives way to determination. Determination to do your very best for your child. It is easy for me to over simplify things because I have not been there. I can, however, make observations. You were told that your child has a fatal disease and what do you do? I know that initially you may have been totally despondent over what seems to be a hopeless situation. Your heart breaks but it is your deepest desire to do the very best that you can in providing the richest experiences for your young warrior. You provide everything that is needed to the best of your ability. I have done enough of these stories now and each one has turned out to be an amazing account of sacrificial love and care. It is not because of my words. All I have done is to use the details that I was given in order to put them into words that tell the story. The story is yours, not mine. Awareness? Yes, but my greater purpose has been simply to share the details of what is faced and how the love that I often speak about is displayed. My foremost purpose has also been to honor the little warriors that face this battle so bravely. In their innocence, they press on while displaying a smile until they are no longer able to. They are just so resilient and I am amazed at how they are able to teach us about the indomitable human spirit. I am truly moved by each one’s story and I was truly blessed, over the course of last year, by all those who had placed their trust in me. It is true that you can’t please everyone, all the time. It is also true that this blog is not for everyone. Several families have said “No thanks.” For others, the timing wasn’t appropriate and I completely understand. For others, they have been more than willing to be included and they have been very appreciative at the time of their story’s completion. Batten parents will express the gratitude before going back to the challenges that lie before them. Finally, there are those that have offered me a great deal of encouragement and support. This has happened through various means and sometimes it has just come through subtle comments and kind words. One such case is comments received from the Scarpetta family via Brad Scarpetta, the dad. His kind words have not gone unnoticed. He has had several nice things to say about what I do with the blog and so I thought that I would ask if he would allow me to tell his family’s story. He said yes! As I write this I am thinking, duh Greg! Maybe you should have asked sooner. I hope that my readers will have a sense of humor in regards to some of what is to follow. Sometimes laughter is the best medicine. This story could have taken place in any town in America, but this particular one is taking place in a town within the state of Illinois. In a small town named Shirland to be exact. At the time of the last census that was taken the town had less than a thousand people. This sounds like a great place to hide. Maybe get married and raise a family. I am sure that there is space enough to enjoy all kinds of outdoor fun with the family that you dreamed about having as you made plans. As the years pass and time moves on, the memories that are made together stay with you for a lifetime. There are so many things that can be bought but the memories that come from being a family are priceless. These memories carry more value than anything money can buy. Brad Scarpetta and Christina Jobson grew up in this little town and both attended Shirland Elementary all the way through the 8th grade. According to Brad Christina was one of the most popular kids, while he was not. She had Brad’s attention at an early age but it sounds like poor Brad went unnoticed by Christina. I feel your pain Brad! I wasn’t one of the popular ones either. As it is in most small towns, the kids follow each other from grade school to the local high school. Brad was one year behind Christina and so he literally followed her to Hononegah High School. I am sure that Brad still had his eye on Christina as according to him, she was “the hottest chic in their hometown.” Christina did everything in school activity wise. She played sports like basketball, volleyball, and she was a gymnast as well. Brad would tell me that she continued most of these into high school. Christina went on to attend Junior College and she earned her Associate's degree before going to full time employment. Brad, on the other hand, began work life right out of high school but he would later attend technical college for heating and air-conditioning plus refrigeration. This turned out to be an excellent move as he now works full time servicing equipment for large retail stores in the area. Christina would work for a single company for 14 years before taking a job as a school bus driver part-time. This so that she could have more time at home with her kids. She would later decide to return to full-time employment and she now works for the postal service. She has been there for three years and loves it. Oh, did I leave something out. I am getting ahead of myself here. It was while they were in their mid-twenties that Brad and Christina started to date. Finally, that girl that caught Brad’s eye back in grammar school started to become interested in him. Brad told me that it was at the Boone County Fair that they dated for the first time. Gee, I wonder if it was Brad’s Harley Davidson that attracted Christina at first. Hmmm, maybe! It was in 2004 that Brad and Christina started to date on a regular basis. They both had a love for horseback riding and would frequently ride the trails together on horseback. Their fun in the country together had to include conversations about memories of their time as kids growing up. Having grown up in the same town and attending the same schools gave them much to remember and discuss. Their relationship continued to grow and a wedding date was set. They would get married in November of 2005. Memories of the past would soon be connected to new memories made in a life spent together. Memories, and yes, challenges unseen as they began their life together. Christina would bring her daughter Karly into the marriage and Brad would adopt Karly in 2006. As his relationship with Christina has continued to grow, so has the one that he has with Karly, his adopted daughter. That is special! Karly is now twenty years old! Brad said that June the 1st of 2005 was an extremely happy day for him. That is the day that their daughter Cloe was born. She was so perfect and perfectly beautiful. The Scarpetta family was starting to really look just like that, a family! Brad would tell me that he had just taken a severance package from a company at the time that Cloe was born. This allowed him to spend everyday with baby Cloe for the first six months of her life. For him, it was an amazing experience. Brad had been working a lot of hours when he was younger but it was during this time that he attended school for refrigeration. Going to school and settling into a stable career would give him more time with his growing family. Christina’s own steady employment added to the family’s standard of living. They had two beautiful daughters and life was pretty good! Sometimes, one gender runs predominant in a family. My wife’s sister Laurie and her husband Randy had three girls as they completed their family. I can remember Randy saying that he would have given anything to have had a son. He went on to say, that is except for one of his girls. In our case, we had three boys as Rosie gave birth to Benjamin. I have said in a joking fashion before and I will say it again. We were trying for a girl but we got a Benjamin instead. Life has never been the same for us and it was soon to change again for the Scarpetta family as Brad again heard those famous words, “I am pregnant”. Brad told me that they decided as a couple that they would not seek to know the baby’s gender but would wait to be surprised. Surprised they would be! That was on April the 9th of 2007. That was the day that baby Brock was born. Just like his sister Cloe when she was born, he was perfect. He had all his fingers and toes and you guessed it! He was delivered brand new to the showroom floor complete with that new baby smell! Was this a big deal to Brad? Oh, you betcha it was. Here is how he would put it to me, “I’ll never forget the joy! When the doctor said it was a boy. I was overwhelmed! I love my two girls, but a little partner to get into mischief with was my dream come true!” As I have been preparing to do this story, it has become apparent to me that Brad is a character. He loves to laugh and make other people laugh. I like that! Having little Brock in his life would allow him to mold his son into his image. That image included being a character and that would soon be the case! As Brock continued to grow he would bring mom and dad much joy. He would develop and reach his milestones on time. This would provide memories for their future together. Memories that are priceless and wonderful to remember. As Brock grew, he began to show off his charismatic personality to all that he was in contact with. Brad said that Brock developed a fondness for tormenting his sisters. Go figure! In concluding every sentence after a fight with the sisterhood, he would use the word duh! He used that word generously! You know Brock-man, as I was thinking about this, the question came to mind. What else are sisters good for other than tormenting? After all, they don’t like the things that us guys like and they don’t think like us. They are made of sugar and spice and all that stuff. You can have all of it girls! Yes, you torment them in the most endearing fashion that you can. Then as you grow up and sit and enjoy the holidays with family, you share in the memories of the time that you spent together. Those memories would include those of tormenting your sisters with much love and affection! Brock made sure to let people know that he was the smartest person in the house. Brad said that Brock loved making faces at people. No doubt, he loved using this tactic on his sisters. More memories. In all seriousness, little Brock loves his family so much and that would include his sisters. As Brock continued to grow, he enjoyed time spent outdoors with his family. Brad said that he would take the kids fishing together all the time and the first fish that Brock caught was a Largemouth Bass. Brad would go on to say that the Bass was over half as big as Brock. That is no fish tale! Brock loved hunting for mushrooms, being on the the family tractor, and helping with chores. Just like their parents, both Cloe and Brock love horses. Growing up, they both had ponies. Cloe’s pony was named Princess and the name of Brock’s pony was Star. The family has always had livestock of some type. That would include horses and donkeys. Brad and Christina made sure that there were plenty of activities to help increase the bond as a family. It was also just plain fun! Brad said that they would travel to Wisconsin, when Brock was five years old, to attend Little Britches Rodeos. Brock rode Bare Bronc Ponies and according to his dad, he was pretty good at it. Perhaps we are talking about a future Rodeo star in Brock. This was taking place in 2012. According to Brock’s dad, there was one white pony that Brock would draw frequently. Brock got bucked off of that pony three different times, after which he referred to her as a mean pony. Sounds pretty mean to me too Brock-man! You can tell from all of this that this couple sought to do everything that they could do to give their children outlets for growth and learning. They were doing their best to make sure that the kids were experiencing life to the fullest. With living in the same area that they were raised in, time together included time spent with their extended families. You remember that Brad talked about having someone to get into mischief with. You just know that Brock was going to pick up some of his dad’s character traits and it sounds like he was developing some of his own. According to Brad, Brock would have him rolling on the floor laughing at an early age. He had this to add, “He just did funny things all the time. He was gonna be the class clown and give me lots of gray hairs, Lol.” Brad recalled one incident in particular that happened when they were driving with Brad’s dad and uncle. Brock was in the middle of the two of them in his car seat and he had control of the radio. Brad would go on to say that Brock loves country music. By my own admission, so do I! Anyhow, what took place is that Brock turned up the radio and when he did it happened really fast and it was turned up extremely loud. Brad reached for the radio quickly and turned it down as fast as he could. As this happened little Brock looked at Brad’s uncle Dennis and uttered a phrase starting with the word “Oh”. It ended with the choice word that starts with the letter “S”. Get it? (Now this whole scene reminds me of a country song and this would not be the first time that talking to Brad would do that for me. He he!) Brad said that he would have disciplined Brock for the use of that word but all the adults in the car were too caught up in their laughter to do anything about it! Every family has their struggles but you have the feeling that up to this point, things were pretty good at the Scarpetta house. They had a solid work ethic and were receiving the benefits of that. Their emphasis on family was where everyone's should be. Life wasn’t perfect but it was really good. Looking forward, one would only expect that Brock’s life would hold a ton of promise for the future. All the time spent together only served to increase the bond that was felt, and this also is the way things should be. Nobody would have suspected the challenge that would lie ahead for this family. Things can sometimes change in an instant, and for the Scarpetta's they did. Brad remembers that it was on May the 1st of 2014 that Brock would have his first seizure. The seizure would be called a Febrile seizure which can be brought on by a change in body temperature. This assumption was due to the fact that Brock had a cold and a fever at the time. This, in fact, happened the night before Brad’s graduation from technical college at two o’clock in morning. Brock had a Grand-Mal seizure while sleeping with Brad and Christina. Brad had told me that this was extremely scary and who would argue that it would be. The family was at the hospital until 7am and no testing had been performed. Brad said that at the time, they had bought the false diagnoses “hook line and sinker”. No one can blame them for that. Why would they suspect anything different at that point? There was no way of knowing that they were entering the world of those that deal with a rare disease in their child. A disease that they had, most likely, never heard of. As one would expect, the next seizure came and it happened on June the 26th of 2014 while Brock was watching cartoons with his mom. He was transported, again, by ambulance after having back to back Grand-Mal seizures. Brad said that they were persistent this time, believing that Brock’s body was trying to tell them something. This was taking place at Rockford Memorial Hospital in the city of Rockford. It was there that Brock would be kept for two days while the staff performed EEGs, brain scans, and various other tests. As might be expected, he was prescribed the medication Keppra for seizures but the pediatric Neurologist was too busy to see Brock right away. Instead, he was given an appointment for 3 months later. Brad’s response to this shows the type of father he is and it also shows the love that he has for Brock, “I flipped out. Nope not my child. Not 3 months. We gathered all the information from the hospital that Friday while still there. I called the UW of Madison Wisconsin. I cried and begged them to help my child. They complied and got him in the following Monday.” Some of what happened next sounds all too familiar as I have written other stories. One in particular about a beautiful warrior princess named Montanna. She lives in Wisconsin, of course, with her very wonderful family. Anyhow, it was on Brock’s very first appointment at the university that the family conferred with a Pediatric Neurologist named Dr. Hsu. They were also seen by a Geneticist named Dr, Rice. They had both reviewed Brock’s file previous to the appointment and had questions and things that they wanted to test for. Batten Disease was mentioned but, at the time, the family didn’t think that was possible. By the end of 2014, a blood test for Batten Disease had come back negative. Doctor Rice wanted to have a skin biopsy performed just to make sure. Perhaps he had seen blood tests come back before with a negative reading, only to be proven wrong at a later date. One thing that is frustrating for many people in this country is having to deal with insurance companies who refuse to pay for testing that is needed. As Brad would put it, they had to play the “insurance game”. Do you think that the people order this type of testing for the fun of it? I wish this kind of thing didn’t happen. Brad and Christina had something happen in relationship to this. I’ll let you read what he said, “In the meantime we visited Mayo Clinic. I’ll never forget this. It was a Wednesday night and I was taking Cloe to softball practice. It was February of 2015. At 7:30pm, I get a call from a Wisconsin area code. It startled me as I knew I wasn’t on call for work. It was Dr. Rice. He stated that his secretary had never submitted Brock’s paperwork because she “knew” insurance would deny it. I lost it on him. We needed them to deny it so we could appeal it. He asked this question and I’ll never ever forget the feeling. He asked me if I wanted to fire her?” Initially, Brad wanted that to happen. After he had cooled down and thought through the situation, he felt different. People make mistakes and he felt that since she probably had a family to feed, he said no to her firing. In the end, they just got the whole process moving again. It took Unitedhealthcare a long time to approve as the testing was denied twice. That is so wrong! I can only imagine what the Scarpetta family was feeling as they had to wait during this period of time. It was in June of 2015 that the testing was finally performed. In July of the same year, they received the awful diagnosis that must have brought with it devastation. Brock in fact, had Batten Disease. He was at the beginning of his battle with the CLN8 variant of Batten. He is a warrior and a courageous champion. Not to mention, a darling of a young man! The family was told that the only thing that would help is Gene Replacement Therapy. They have done fundraising for the therapy but it brings with it a price tag of 3.5 million dollars. I think that for the average family, this would seem like an unattainable amount of money and the treatment is not covered by private insurance. Most parents would do everything that they possibly can for their child no matter how big the challenge is. Some challenges are so big that all you can do is to do the very best that you can do and know for yourself that you did. No matter what, for now, Brock’s care is the most critical thing and this family is giving it their all. Christina is Brock’s main caretaker and she does this very lovingly, just like you would expect from a mom. I love knowing how involved Brad is with his children. He is a great dad! Why would he not be though. This is what he longed for. This and the memories that come with raising a family. The priceless ones. In regards to moms, you have heard me say that there is no love like a mother’s love. I have also said that momma feelings are the best feelings. By that I mean, in part, that moms are often the best at putting their feelings into words. Christina started her comments to me like this, “It’s definitely been a roller coaster of emotions, from the day he was diagnosed in 2015 until now. The first few months were horrible. Who do we call? What do we do? How can we help Brock?” The effects of Battens on Brock were gradual at first. According to Christina most of 2016 was pretty good and Brock was seizure free. However, by the end of 2016 Brock’s balance and walking began to decline. As time goes along, he is needing more and more help getting around so that he doesn’t fall. Brock’s mom says that there are days that he will take steps without assistance and that is considered to be an extremely good day. Christina said that his eyesight is gradually getting worse. First signs were that he was having problems seeing when the lights were dim or it was dark outside. Lately, as of 2017, his eyesight in the light and in the daytime is declining. They have their ups and downs with the disease and Brock’s appetite is hit or miss. Some days he eats non-stop and others he will just pick at his food. Mom now feeds Brock and he drinks using a straw. Christina bathes and dresses Brock and they now use pull-ups under his clothing. Concerning the seizures associated with Battens, she said that at one point they had gone two years without any seizure activity. Then, all of a sudden, there were four seizures in a week and a half. Christina recounted one experience with that and I will leave in her own words, “I remember two seizures when I was home alone with Brock. It was the worst feeling I’ve ever had, Helpless.” Getting enough rest was difficult for this heartbroken momma. As she stated, “I didn’t sleep very well, often crying myself to sleep.” Brock battles like a warrior but the family has seen some big declines with him. Like with any Batten family, medicine changes take place almost routinely for Brock. As I stated earlier, one of the continuing themes that I have seen in doing these stories has to do with the determination that is shown in the midst of very trying circumstances. Christina would confirm this in her comments. She stated how difficult that it is to stay strong while dealing with the heartache associated with Brock’s circumstances. She is her son’s primary caretaker. Like any child with special needs, the Batten warrior requires special care. I see what my special needs son requires in the way of help but for the Batten parent, I feel that the demands are greater in many respects. Christina takes Brock to all of his doctor and therapy appointments. I have no doubt that there are many that they attend. Brock is a battler! Christina said that Brock will decline to the point that the therapist will not know what to try next. Then, after a change in medication, he will bounce back a few days later. He will be his “spunky self”. You go Brock-man! The level of devotion displayed by the Scarpetta’s, and others within the Batten community, to me is without equal. Yes, I know that there are other rare diseases that affect children. There is pediatric cancers for which more needs to be done. I believe that the parents of Batten warriors represent those in the other communities quite well. Moving past the heartache and just getting on with each day. Yes, I’ll say it again, the undying love that is shown. I know that Christina cherishes every single moment that she spends as Brock’s caretaker. Each little victory or achievement on any given day brings with it pure joy. As she put it to me, “I shed tears on the littlest things he does or a word he spits out.” This, I am sure, is true even when the fatigue sets in. It has to be tiring at times but I don’t think that she would want to give that responsibility to anyone else. She shares some of the experience in this way, “I sing the star spangled banner to him every night. That was one of his favorite songs he loved to sing. If he’s having a rough morning, we sing and dance in the kitchen. I do anything to make him laugh and smile. There are nights where I just watch him sleep and kiss his forehead until I can’t keep my eyes open any longer. He was up all night one time and wouldn’t stop crying. I drove him around the countryside and we listened to music to calm him down and make him smile. I take him everywhere I go. Shopping movies, etc. Some trips are better than others.” Christina stated that she doesn’t like it when people stare or make comments. We get plenty of stares with Benjamin when out in public. You can take a quick glance but staring shows that you are more handicapped than you may be aware of. Christina is not shy about voicing her opinion when people exhibit this type of behavior. She is, after all, the mother of a warrior and a warrior mom! She said that she tries not to think about the toll that the disease is taking on her son’s health. Like all warrior moms, she places one foot in front of the other each day and she gives it her all. I know from following this family that Brad can’t wait to arrive home each day to spend time with the son he dreamed of having. His little warrior and champion. He lives to hear the laughter that comes out of Brock as they horseplay together in the evening. He roughes his boy up as much as he can get away with in the most adoring fashion. This family rocks the house! Moving forward there will be big challenges and some more heartbreaks. The Scarpetta family will do absolutely everything that can be done to help their son have maximum success and the greatest longevity that can be found. Just like with any family, there will be bunches of sweet memories. Ones that are priceless. Would it not be priceless to know that Batten Disease was easily treatable? That the science is there and clinical trials are over and successful? That people were well educated on it and a diagnosis was always determined quickly? Insurance companies paid the bills, and on and on? I know that I am a bit of a dreamer. The message in this video is priceless to me. Because of the challenges that are faced, Brock’s story is even more priceless. No matter what the future holds, Brock’s life will impact the lives of his family members like no one else’s. These kids teach us things about ourselves that we never would have known and they change our perspective on many counts. Their stories have changed me! Brock-man you are a warrior of the most adorable kind. Please battle on and kick Batten Disease square in the teeth to the best of your ability! Scarpetta family, thank you so much for letting me tell your story which is among the best because that is what you are! Like father like son as the saying goes. I am a firm believer that people need to laugh a little or life often gets to them. In my case, I like to laugh a lot and Brad is just the guy to help me with that. He gave me a few funny things that have happened with Brock while in his presence. I’ll close with one of the real cute ones. As told by his dad, this happened when Brock was five years old: “We would be in Walmart. I’d put him in the cart and talk to him. I used to ask him about hot chics at school and wherever he was that day. As we are headed to the checkout here comes, well, hot chics. He hollers, ‘Dad look at those hot chics.’ Pretty sure I power walked looking at the ground while they giggled and laughed, talking about how cute Brock was lol” Brad then went on to finish the story by acknowledging a fact. That is that there are things that he and Brock have missed out on because of the disease. “Greg he was a lot of fun. I miss them days. I miss seeing what else he was gonna come up with.” There are some memories that will not get made because of Batten Disease and there are others that will never be taken away. There will be other memories made and you can bet on one thing. Those are the ones that will be priceless! Families like this are why I am doing what I do! That is why my time and energy away from my job is spent here and it will continue to be, for as long as you will have me. Thanks so much! ~Greg Lopez~ Blogger and Advocate My faraway friend, Jessica Montville, became a member of the Batten community when her beautiful little daughter Nora Skye was diagnosed with the disease. This happened after she began experiencing symptoms. Jessica’s search for answers was not as long and exhausting as many of the others were although the answer that she received was nonetheless very distressing. I love her daughter’s name! Nora Skye is a name that could have easily been taken by an actress who wanted to be known as someone more than of the ordinary. It is the type of name that would endure through time and would be associated with someone who possessed great beauty of a rare kind. The name will always be remembered because of who it belongs to! There have been several blog stories that I have done in which I have drawn a comparison between my own experience as a father of a special needs child and one who has a child with Batten Disease. In the truest sense, there is no comparison. The knowledge of the fact that a child has a disease for which there is no cure brings with it circumstances that stand alone. The only reason that I have written in this way is to try to relate my own experience as best that I can in an attempt to try and understand what those in the Batten Community go through. I know that my attempt falls short of this.There are of course, other types of little warriors out there that deserve to have their stories told. My son Benjamin has a seizure disorder that is, for the most part, controlled by medication. We suspect that he still suffers from absence seizures in times when things are out of order. His mobility, among other things, has become an issue. I have mentioned it in brief before that there was a time that Benjamin experienced a bout with aspiration pneumonia. Benjamin came down with the stomach flu or a virus when he was seven years old. Without giving too many details I will tell you that he aspirated into his lungs and not just a little. Whereas this was a one time event for Benjamin it was a very serious one. I know that young children with Batten Disease often experience aspiration pneumonia and it is always a very serious thing. When this happened to Benjamin, we called 911 and our son was taken by ambulance to the nearest hospital. He was almost immediately Life Flighted to a hospital that had the type of equipment needed to treat him. This consisted mainly of a special type of ventilator. Within a few days, he was transferred to a to another facility and put on a less aggressive machine. After he had settled into the first hospital, we consulted with the physician that was treating him. The doctor said that Benjamin couldn’t be any sicker than he was at that time. Of course, he would recover and I am so glad that he did. Where am I headed with all of this? During the time that we were at that first hospital, we received a pastoral visit. He stopped by to offer support and to check on us and Benjamin. It has been a long time now but I can remember how he had commented about how upset or alarmed we must have been by what was going on. It was a fact that, prior to this time, we had already spent a lot of time with our son at the doctors and at hospitals for a variety of reasons. So our response had apparently taken him by surprise as we might have appeared over confident in our own ability to handle the situation on an emotional level. Perhaps our attitude seemed a little flippant or out of character. It was like if we were saying, “don’t worry, we’ve got this.” I am sure that if things had become worse and we were to have lost Benjamin, we would have been devastated. I think in hindsight, that perhaps we were a little bit naive. For the child with Batten Disease, if aspiration happens, it comes in a time when the disease has progressed into a later stage and the damage can be irreversible. Something like aspiration comes at a time when the family has been through the earlier stages of the disease and all the devastating circumstances that go with it. There is no way that a Batten parent can posses a flippant or careless attitude when this happens, and they never do. I have often talked about the bond that has developed between me and Benjamin as time has gone by. It has been mentioned before that I actually have three sons and that Benjamin is the youngest. Even if I haven’t always demonstrated it by my actions, I would like to think that I love all three of my son’s equally. In the case of Benjamin, things are a little bit different though. Both his brothers are on their own and are self sufficient, while Benjamin has been under our care his entire life. All the time that we have spent together has, of course, created a special bond. How much more intense is the bond between a Batten warrior and the family? The bond that is created as a result of giving everything that is required for a Batten warrior’s care cannot be broken. This is my observation. Such is the case with Jessica and Nora. The following is a brief account of their story and some of it comes from a previous blog that I did. I felt that Nora deserved a little better than I had previously done for her in February of last year. I wanted to give a little more detail and make it a little bit sweeter because she more than deserves that from me. Here goes, Baby Nora must have been something to behold as her parents held her in their arms. They were so happy to see her after welcoming her into this world. She was born at Heywood Hospital in Gardner Massachusetts on April 21, 2005. There was only one thing keeping her parents from looking ahead to all that she could accomplish in her life. That was the fact that they were mesmerized by her tiny and most perfect appearance. She was flawless and beautiful. Nora Skye had all her tiny fingers and toes and she was covered in brand new baby skin. It was no small thing that this baby girl had made her entrance into the world as her mother, Jessica, was having problems conceiving. After consulting with doctors and after much time and difficulty the purest of perfection was delivered. There is no bond that exists like that which is between a mother and her child. Especially between a mother and her daughter. As little Nora Skye continued to grow she captivated her family by all the the very cute and precious things that they observed in her. They had no reason to believe anything other than that she would fulfill all of the dreams that they had for her. Certainly she would make her own decision one day for her future but her family thought nothing other than that her future would be bright. There was no way that Jessica could know what would lie ahead for them. I have now heard the testimonies and comments made by many parents that are either facing the daily struggle of caring for a child that has a rare disease or one who has lost a child to such. The absolute heartache that has been told to me by the now many is heartbreaking to the reader if it is allowed to sink in. I feel that I am personally drawn into these families stories as I write and I do my best to empathize with what they face. My emotions often get the best of me as I think about each one. Jessica had to be treasuring every moment of little Nora's life as she watched her grow. I am sure that the strong bond between the two of them continued to develop as Nora reached all the normal milestones that each parent looks forward to seeing their child achieve. Each new day would bring another memory to be treasured as the entire family continued to look forward to the future. It wasn’t until the age of three that a sign of what was to come appeared. Nora told her mommy that she could not see. This would be alarming to any parent. It should also be noted here that Nora as a baby experienced tremors and that Jessica was told that Nora was merely vitamin deficient at that time. She did not know that what her baby was experiencing is a piece of a puzzle that no parent would want to have to put together. The truth, however, would soon be found out as changes started to take place. Nora was taken to her primary care doctor who felt she was fine. It was while she was at a neurology appointment that Jessica was advised that she should have Nora’s eyes checked and that was not all. The most notable, and certainly the most alarming, concern was that Nora began to have seizures. Not just one or two, but more than could be counted accurately. This would lead to an early diagnosis of Uncontrolled Seizures. Like a lot of parents that go through such an experience, the exact day becomes etched in a person's memory. Jessica remembers that day which she will never forget. June the 25th, 2009. You’ve heard the stories before about how a parent will go on an exhausting search for answers, however for Jessica, that would not be the case. The Neurologists that were consulted would be quick to determine what was going on with precious Nora Skye. The early diagnoses would eventually give way to the news that Nora had Late Infantile Batten Disease (CLN2). Jessica was informed that her daughter has a disease that is fatal and for which there is no cure. She was all of a sudden faced with the knowledge that her child could be gone as early as age 6. The variant of Batten Disease that Nora had would bring with it a life expectancy of no more than twelve years at the time she was diagnosed. What would you do if this was your child? How would you respond? Jessica was seized by emotion after receiving the diagnosis. Nora was her firstborn child and one that she had dreamed about having. She came into this world through a fair amount of difficulty and she was Jessica’s darling Nora Skye. Jessica would tell me that she spent the first day overwhelmed and in tears after receiving the news. Those emotions, however, would give way to determination. That determination would drive her to do whatever she had to do to save her daughter. Jessica would tell me that her thinking at that moment in time was that she would save Nora, even if it killed her while doing so. As somebody that doesn't know Jessica and her family really well, I can only use the examples of others whose stories I have heard in understanding what the news they received did to them at that time. How devastated they must have been to know that their most perfect little person would go through all the stages of a most dreadful childhood disease such as Battens. My heart aches for any parent that receives this kind of news. Anybody that is a parent of a Special Needs child understands that strength of the bond that develops as a result of their child's dependency on them. However, for the parent of a child that has a rare and incurable disease it becomes even stronger. I am thinking that the constant care for the child's very survival on a daily basis and the time spent by their side only serves to increase the bond exponentially. We are not at all members of the Batten Disease community, but I love my special needs son Benjamin so much! I have to tell all of you that are parents of a rare child how much I respect you. The love and respect increases with each story that I hear or read about. To know that there is a clock that is ticking and that your time is limited. To know the eventual outcome and to make every moment together memorable. The determination to fight for your child in every way possible. There is nothing to compare it with. When it comes to Nora and Jessica, it needs to be said that Jessica battled for her daughter in every way that she could. If you were a doctor or a nurse, a teacher or a bus driver, you better have had your act together when it came to your care for Nora. Professionals of all kinds needed to have their facts straight or this momma bear would see through everything. It was apparent to those who followed the journey of Nora Skye that emotions often ran high. This was due to all of the frustrating circumstance that surrounded mother and child as they sought to fight off the monster that is Batten Disease. Nora Skye often led a lonely existence as other children and adults avoided her out of pure ignorance. These people do not understand what a tremendous gift that each one of these children are to us. Each carries with them the title Prince or Princess. They are rock stars, each and everyone. To stand in service to them is indeed a great privilege that should never be taken for granted. They are little warriors in the truest sense. Nora Skye was and forever will be beautiful to those who followed her journey. I know that she is to this guy. She would understand the love that those who knew her best had for her. There was never any doubt! Nora would go through all of the decline that one would expect with Late Infantile Battens. This included loss of most all of her abilities, seizures, and lung congestion. But you know what? She battled hard and she did so with a smile on her sweet face for most of her life. Jessica tells me that she battled through the later stage of Battens for many years. She was a fighter and Jessica was a warrior mom because she loved the daughter of her dreams. Jessica did everything possible to help Nora fight. This would include the use of Cannabis derivatives for the control of seizures. To this day, Jessica is an advocate for their use and she is an expert on the subject. Even with the physical decline, Nora’s mind stayed sharp for a very long time. Jessica would tell me that everytime Nora was tested, her mental capacity was way above average. Sometimes I think about what it would be like to no longer have Benjamin in our house. Benjamin always has his little space or room no matter where we live. His room is cluttered with all his favorite things. At the center of it is his computer which he uses to play his John Madden football game. He doesn't play it like a normal 27 year old person would but he does so to his satisfaction and pleasure. He is surrounded by all his favorite stuff. Magazines and books with pictures. Toy cars and school buses. New England Patriot signs, football cards, and stuffed animals he has received over the years. What would it be like if he was missing and his room was still filled with this stuff. More days than not, I walk into his room after returning from a long day at work. I will wrap both arms around him and put my face right up next to his. I tell him things like what an awesome person he is and how lucky I am to be his dad. I like to kiss him on the bridge of his nose and then back away slightly as I continue to talk to him. Most of the time he will push his face close to mine as if to tell me to give him another. What if he was no longer there? What if I couldn't wrap my arms around him anymore? What would it be like to be the parent of a child with a rare incurable disease. Your days are filled with the constant care of your child. As the disease progresses the level of care needed increases. The trips to the doctors and the stays at the hospital increase. The level of home care and procedures increases but you do it because of your love for your child. Simple things like bathing become increasingly more difficult. The number of procedures required on a daily basis and the medications needed for the child's very survival go up. Your house may become more cluttered with medical equipment and perhaps the gifts from friends and well wishers fill your child's room. As a result, the bond gets stronger as you battle through each day. Your child is a little warrior and you warrior on as well. And then....some have had to say goodbye, while others have precious warriors that continue to battle. I am so glad that progress is being made but much more needs to be done. Many families that are dealing with CLN2 are benefitting from Enzyme Replacement Therapy. I am so happy that this became available to them. These kids are just amazing to me! Nora Skye Montville completed her journey on February the 2nd of 2017. It was well over three thousand miles away from Jessica’s home that one of my favorite stories took place. This in Plymouth of the United Kingdom. It is the story of Elsie Clark and her grandson Marshall. Elsie was very lovingly given the care of Marshall by his awesome mum, Lara Clark, because of the special bond between Marshall and Elsie. This and also because of the qualifications that Elsie had as nurse by profession. She left her job in order to care for Marshall full time. The entire story, called No Ordinary Love, is so incredibly sweet and it will always be an out of the ordinary kind of beautiful to me. What is most special is how Elsie spoke about what Marshall had waiting for him as he completed his journey. She spoke of the freedom and pure enjoyment that he would experience once he had finished his battle. The words that Elsie spoke about Marshall as he was soon to gain his reward will always stay with me. I would like to think that her mention of things like strawberries and playground slides are just the tip of the iceberg for these kids. Both Elsie and Jessica exemplify the love relationship that exists between Batten warriors and their closest caregivers. This is especially true when we are talking about their closest of family members. That is a special bond that cannot be equaled and it is one that never fades away. There is no love like that which exists between a mother and her child. And yes, this same kind of love can exist between a grandmum and her most suave little grandson. Nora Skye, I know just where you are. As I was preparing to post this story, I received word from a friend that little Brianna Skriver had gained her wings. Her family has a page for her on Facebook called Friends of Brianna. As I looked at my news feeds I saw many people reacting to the news of her loss. I also saw that some of the other Batten mom’s had the opportunity to meet Brianna and her mom. No doubt, it was at a Batten conference. How beautiful is Brianna! One very special video was taken of Dixie Bergeron’s Jacoby as he met Brianna. Oh my gosh! Another very special pic is one of Jessica with Brianna and her mom Tammy. The love that these families have for each other is evident. Only they can truly understand what they go through. It is true, however, that this outsider does the best that he can to understand. I hate Batten Disease but I love the families that battle it. Fly high Brianna! It is the natural outcome that this blog would spread awareness. Anytime you put something on the world wide web, people will see it. That, however, was never my original thought. My original intent was to tell the stories of love and sacrifice that come as a result of caring for these kids. Their lives are truly special to me. They change people. They will have the biggest effect on those around them even when their lives are cut short. To me, they have the awe factor like none other. The love that exists between Nora and her momma will never fade away. Jessica would go on to have four additional children within Nora’s lifetime. Wow! There is no doubt in my mind that each one is special to Jessica, each in their own little way. The bond between her and Nora is different though. The strength of it cannot be compared to any other. Nor should it be. Batten families may think that they are just regular people that are trying to survive the day. You may have been pretty regular as the journey started, however, you became anything but that along the way. At least you became that to me. You are extraordinary! I hope that I did good for you this time baby girl!. Nora Skye, you ARE beautiful and I know just where you are! Greg Lopez Blogger, Advocate, and Benjamin’s Daddy As I am getting started, it is the Saturday before Christmas and I felt like writing. I am enjoying what is the beginning of four days off. Oh how I love time away from work. It has been a busy fire season for my company which fights fires with helicopters and I am thankful for the steady work that my job has provided me this year. We are not getting rich by my being there but it overall affords us a reasonable standard of living. Benjamin has his little space in our little rental house and he seems to enjoy his time in the “Man Cave”. Rosie stays really busy caring for him and she does an excellent job with the house and all the household responsibilities. She often works harder than I do! The three of us really enjoy being with one another. I can remember times when I thought that I was slighted by my situation. That being a single income family and the father of a special needs adult. There are other things as well. I had often felt like I had missed out on things because of decisions that I had made or ones I had failed to make. For example, I could have made better decisions with my career. Decisions for life in general. I really do not think that way anymore though. As I have learned, things often happen the way they do for a reason. People are often placed in our lives to effect change and I believe that has happened to me. Blogging about Batten families has changed my life in a very profound way. It has given me a purpose in life that I never could have imagined possible and it has shown me some things about myself that were unknown to me. I could be writing about a lot of different things I suppose. I have had suggestions by people at work. Suggestions about how to use the blog to make money and different types of audiences that I could gain by creating stories. For example, maybe blog about the aviation field. That would be enough to make anybody want to take a nap! I actually never had a plan for being a writer. It all just happened. Well, maybe it all didn’t “just happen”. I have already told my audience how the entire thing went from sharing my own experiences to sharing the stories of the wonderful people that make up the Batten community. Why the Batten community? Well read the blog entries titled The Blog About My Blog and Those That Are Like Them, if you want to know. Writing about these dear families has changed my life. Now there is always room for improvement when it comes to my motives. It is not as if I am completely unmotivated when it comes to serving myself. I will say that overall, I do gain from knowing that what I write is a help to others. One thing that I hear people say is that the blog helps to spread awareness about Batten Disease. I cannot tell you how satisfying it is to hear things like this. I gain a lot from knowing that I have carved my own niche for spreading awareness. It was never my intention to do that though. It just happened. Well, maybe it didn’t “just happen”. Like anyone that writes, I like to know how many people are viewing my blog. When I look at the statistics that are provided, the average page views are around 230 per day after a new blog entry is made. Of course, the numbers can be much higher right after an entry is made and sometimes they are. Much higher. On a slow day, there is 100 plus views. So yes, it does help spread awareness but that has not been my complete purpose for writing. In fact it was not my original thought. I have said it in the past and I will say it again. It is the details of what Batten families go through that inspires me to write. Do you want people to know who your child is? Some have said that they don’t want their son or daughter to be forgotten. I think that having their precious stories in writing helps with that. Can you imagine the shock of being told that your child has a disease for which there is no cure. You are told that the disease is fatal and it will take the child through various stages of decline. The course of it is unstoppable. What these families go through. The love for their child and the bond that motivates them to keep going is without parallel. It is only equaled by the families who care for the other types of little warriors that battle a different disease. I was talking to our dear friend Sandy Garrett today and she was devastated over the loss of one of the cancer warriors that she follows. This happened on the 23rd of December. Two days before Christmas. She was crushed and was looking for answers. I am not sure that I was able to help her make sense of it but I listened to her and tried to help. Both of us have health issues but we are both still here. Why do these kids have to suffer the way they do? As for me, I know that heaven is real for these kids but I still question why more isn’t being done to find cures for childhood diseases. Why isn’t there more emphasis placed on America’s greatest assets. Why don’t more people care. It is Christmas and I am so sorry that there are families out there that are grieving the loss of a child over the course of the year. There have been some very notable losses within the Batten community this year and I know in other childhood disease communities as well. It is the goal of those of us that are advocates to get more people involved through greater awareness. That right there is one of the things that I want for Christmas. More awareness. More funding. More research. More hope! I am a cancer survivor but so are a lot of other people. In my case, it was caught early and I have lived an additional 30 years. I have other health concerns, one of which is diabetes. I just need to be sensible and take the best care that I can. I feel that part of my reason for being on this planet is being Benjamin’s Daddy and I hope to be so for as long as I can. The thing is that I have had plenty of time to live my life. I am growing into oldguyhood now. It seems like something is not right when a child has to face something like Battens or cancer. Children and their perfect little faces are something that all but the most cynical enjoy looking at. Their little features are unobscured by the lines that age and life’s difficulties bring. Yes, they have their little ways of showing us that they belong to the human race but their childlike innocence is something that we all enjoy. The total cuteness and the innocent questions should not include a look that seems to ask the question, why do I hurt so bad? So yes, a desire to spread awareness has been a big part of what I do. But there is more. I feel deep in my heart, that there is something very special about a family that faces the challenges of caring for a child with a fatal disease. To know what the eventual outcome could be if no cure is found and to move forward while facing the many challenges is truly something courageous. I will always be blown away by the fact that my work as an advocate started because I followed the legacy of a fallen member of SEAL Team Six. I will forever hold the people in our military in a very high regard. Especially those that make up the Special Operations community. But there is another group of individuals that have a special status with me. That is the parents that care for these kids. The demands are great. Most people that follow Batten families know that there is an enzyme replacement therapy available for some of the families that face the CLN2 variant. I am so happy that this progress has been made and I wish more would take place. This treatment requires that the families travel to the hospital every two weeks for the treatment. It often requires hours of travel time and sometimes requires that a family changes geographical locations. There are many other sacrifices that could be mentioned. All Batten families are dedicated to helping their child to live the highest quality of a life as they battle the disease together. I have this vision of a father leaning over the top of his child who suffers from pneumonia or uncontrolled seizures. What about the mom that has spent hours, over and over again, with her child at the hospital. This time she hopes and prays that her little warrior will be well enough to make it home for Christmas. What about those families that have faced loss this year. Their child is spending his or hers first Christmas in heaven and mom and dad are experiencing the emptiness of a missing child. Not just any child but one they have cared and sacrificed for. The bond cannot be broken! I am really mindful of those families this Christmas. Awareness? Yes, but there is something that I really appreciate about being given the opportunity to write about these dear families. That is honoring their sacrifices by telling others about what they have gone through or what they currently face. Honestly, you have my love and respect, whether or not you want it. So that is really what the purpose of my writing is. It is for honoring the families and their brave little warriors. Some are little children. Some are teens and some are even young adults. I have shared the words by an outstanding Batten mom before and I will do it again here. Bekah Bowman wrote this, in part, concerning the goal of this blog. She could see it by reading the words and here is what she said, “Every time I feel a little like a broken record as I share, whether in person somewhere or on social media, I run into yet another person who has never heard of this disease. There is more to sharing our stories than just the awareness, as you stated so well. While you share "batten stories", each family has their unique journey of traveling through such brokenness and every one of those kids and their families have something valuable to teach the world. I love that you continue to share my fellow batten family's stories. They are all incredible stories of courage, pain, joy, beauty, grief, love and more. All deserve to be told.” Thank you SO much Bekah. So another thing that I really want for Christmas is the opportunity to tell more of these family’s stories. I am always open to being contacted by parents who would like me to write about them and their child’s journey. I will also look for those who I feel might be interested but please don’t be afraid to ask. I have talked to a couple of my fellow advocates about doing the stories of other types of little warriors. I hope that this happens because their stories deserve to be told too and again, it would be my privilege to do so. Over the course of this last year, I have blogged about families from all over the world. All while working full time. This has become my passion. Do you know what a privilege this has been for me? The more that I have done, the more detailed they have become. It takes a lot of mental work and preparation but I love doing it. I have shed a lot of tears over this year and I am not afraid to tell people that. I really get moved by the details and I begin to feel connected to those that I write about. Thank you so much to those that have placed their trust in me. Thank you also to those that take the time to read these stories. You have no idea how much I appreciate all of you. I have said it already but will say it again. From Greg, Rosemarie, and Benjamin. We wish you a Merry Christmas and a Happy New Year. So did you get what I want for Christmas? I want a cure to Battens and other fatal childhood diseases. I also want the opportunity to write about the little warriors who will battle until those cures are found! Sincerely, Greg Lopez Blogger and Advocate Noel İçin Ne İstiyorum
Burada otururken, Noel öncesi Cumartesi ve yazmaya bayılırım. Dört günün başında olanın tadını çıkarıyorum. Oh işten uzakta zaman seviyorum nasıl. Helikopterlerle çıkan yangınları savuşturan şirketim için yoğun bir yangın sezonu oldu. İşimin bana bu yıl vermiş olduğu sürekli iş için müteşekkirim. Orada bulunmakla zenginleşmiyorum, ancak genel olarak bize makul bir yaşam standardı sağlıyor. Benjamin küçük kiralık evinde küçük bir alana sahiptir ve "Man Mağarası" nda vaktini yaşamaktadır. Rosie gerçekten ona bakmakta çok meşguldür ve ev ile tüm ev sorumluluklarıyla mükemmel bir iş çıkarır. Sık sık benden daha çok çalışır! Üçümüz birbirimizle olmaktan gerçekten keyif alıyoruz. Durumum tarafından incitildiğimi düşündüğüm zamanları hatırlıyorum. Tek gelirli bir aile ve özel bir yetişkin babası olmak. Başka şeyler de var. Yaptığım kararlar veya başaramadığım kararlar yüzünden çoğu kez şeyleri gözden kaçırmışım gibi hissettim. Örneğin kariyerimle daha iyi kararlar verebilirdim. Hayat için genel kararlar. Artık böyle düşünmüyorum. İşler sıklıkla yaptıkları gibi olurlar. İnsanlar çoğu zaman hayatımıza değişiklik yapmak için yerleştirilir ve bunun bana olduğuna inanıyorum. Blogumum hayatımı çok derin bir şekilde değiştirdi. Hayatta asla hayal edemeyeceğim bir amaç veriyor ve bana göre bilinmeyen bazı şeyler gösterdi. Herhalde çok farklı şeyler hakkında yazıyor olabilirim. İş yerinde insanlar tarafından önerilerim oldu. Para kazanmak için blog'u nasıl kullanacağınız ve hikayeler oluşturarak kazandırabilecek farklı kitlelerle ilgili öneriler. Örneğin, havacılık alanıyla ilgili blog yazabilir. Bu, kimsenin kestirmesini istememek için yeterli olur! Asla bir yazar olmak için bir planım olmadı. Her şey oldu. Belki de hepsi "başımıza gelmedi". Kitlenize, kendi deneyimlerini paylaşmaktan, Batten topluluğunu oluşturan harika insanların hikayelerini paylaşmaya kadar her şeyin nasıl gittiğini çoktan söyledim. Neden Batten topluluğu? Bilmek istiyorsanız, blogum Hakkında Yazıları ve Blogum Hakkında Blogu ve Bunlara Ait olanlar'ı okuyun. Sevgili aileler hakkında yazdım hayatımı değiştirdi. Dürtülerime gelince, gelişme için her zaman yer var. Kendime hizmet etmeye gelince tamamen motive edilmez gibi değilim. Genel olarak, yazdıklarımın başkalarına bir yardım olduğunun farkında olarak kazanacağımı söyleyeceğim. İnsanlara duyduğum şeylerden birisi, blogun Batten Hastalığı hakkında bilinçlenmeye yardımcı olması. Bunun gibi şeyleri duymanın ne kadar tatmin edici olduğunu söyleyemem. Farkındalığı artırmak için kendi mihrabım oymuş olduğumdan çok şey kazanırım. Bunu yapmak benim niyetim değildi. Henüz oldu. Belki de "daha önce olmaz". Yazan herkesi beğenirim, blogumu kaç kişinin görüntülediğini bilmek isterim. Sağlanan istatistiklere baktığımda, yeni bir blog girişi yapıldıktan sonra ortalama sayfa görüntüleme sayısı günde yaklaşık 230'dur. Elbette, sayılar bir giriş yapıldıktan hemen sonra daha yüksek olabilir ve bazen de öyle olabilirler. Çok daha yüksek. Yavaş bir günde, 100 artı görüntüleme var. Öyleyse evet, farkındalığın yaygınlaştırılmasına yardımcı olur, ancak bu yazının tam amacım değildir. Aslında bu benim özgün düşüncem değildi. Geçmişte söyledim ve tekrar söyleyeceğim. Batten ailelerinin bana yazdıklarından esinlenerek verdikleri ayrıntılar bu. İnsanların çocuğunuzun kim olduğunu bilmesini ister misiniz? Bazıları, oğlunun veya kızının unutulmasını istemediklerini söyledi. Bence kıymetli hikayelerini yazılı olarak yazmak bu konuda yardımcı oluyor. Çocuğunuzun tedavi edilmediği bir hastalığı olduğunu söylenmenin şokunu hayal edebiliyor musunuz? Hastalığın ölümcül olduğu söylenir ve çocuğu çeşitli düşüş evrelerine götürür. Tabii ki durdurulamaz. Bu ailelerin geçtiği şey. Çocuğa duydukları sevgi ve onları sürdürmeye motive olan bağ paralel değildir. Buna yalnızca, farklı bir hastalığa karşı savaşan diğer küçük savaşçı tiplerine bakan aileler eşittir. Sevgili dostum Sandy Garrett'le bugün konuşuyordum ve takip ettiği kanser savaşçılarından birinin kaybedilmesi üzerine harap olmuştu. Bu 23 Aralık'ta oldu. Noelden iki gün önce. Ezildi ve cevap arıyordu. Ona mantıklı gelmesine yardımcı olduğumdan emin değilim ama onu dinledim ve yardım etmeye çalıştım. İkimizde sağlık sorunları var, ama ikimiz de hâlâ buradayız. Bu çocuklar neden yaptıklarıdan acı çekmeli? Bana gelince, cennetin bu çocuklar için gerçek olduğunu biliyorum, ancak neden hala çocukluk hastalıkları için iyileştirme bulmak için daha fazla şey yapılmadığını sorguluyorum. Amerika'nın en büyük varlıklarına neden daha fazla önem verilmiyor? Neden daha fazla insan ilgilenmiyor? Noel'dir ve yıl boyunca bir çocuğun kaybolması için üzülen aileler var için çok üzgünüm. Bu yıl Batten topluluğunda kayda değer bazı kayıplar yaşandı ve diğer çocukluk dönemi hastalık toplumlarında da biliyorum. Daha bilinçlendirmek yoluyla daha fazla insanın yer almasını savunanlarımızın amacı budur. İşte doğru Noel için istediğim şeylerden biri. Daha fazla farkındalık. Daha fazla para yardımı. Daha fazla araştırma. Daha fazla umut! Ben kanserden kurtuldum, fakat diğer insanlar da öyle. Benim durumumda erken yakalandı ve 30 yıl daha yaşamıştım. Bir diğeri şeker hastalığı olan diğer sağlık endişelerim var. Sadece mantıklı olmalı ve elimden gelen en iyi bakımı yaptırmalıyım. Bu gezegende olma sebebimin bir kısmının Benjamin'in babası olduğunu hissediyorum ve elimden geldiğince uzun süre devam etmeyi umuyorum. Mesele şu ki hayatımı yaşamak için çok vaktim oldu. Artık eski güce dönüşüyorum. Bir çocuğun Battens veya kanser gibi bir şeyle yüzleşmesi gerektiğinde bir şey doğru değil gibi görünüyor. Çocuklar ve onların kusursuz küçük yüzleri, en alaycı bakışların tadını çıkarmanın keyfini çıkaran şeylerin hepsidir. Onların küçük özellikleri, yaş ve yaşam zorluklarının getirdiği çizgilerle belirsizdir. Evet, insan ırkına ait olduklarını bize göstermek için onların küçük yolları var ama çocuksu masumiyet hepimizin keyfini çıkarabileceğiniz bir şey. Toplam şirinlik ve masum sorular, neden bu kadar çok incinirim soruyu soran bir görünüm içermemelidir? Yani evet, farkındalık yaymak isteği, yaptığımın büyük bir parçası olmuştur. Ama daha fazlası var. Ölümcül bir hastalığı olan bir çocuğa bakmanın zorluklarıyla yüzleşen bir aile hakkında çok özel bir şey olduğumu kalbimde derin hissettim. Hiçbir tedavinin bulunmaması durumunda nihai sonucun ne olduğunu bilmek ve birçok zorluklarla yüz yüze ilerlemek gerçekten cesur bir şeydir. Bir savunucusu olarak çalışmalarımın başladığı gerçeğinden daima uzaklaşacağım, çünkü SEAL Takım Altı'nın düşen üyelerinin mirasını izledim. Askeriyedeki insanları sonsuza dek çok yüksek oranlarda tutacağım. Özellikle Özel Harekat topluluğunu oluşturanlar. Ancak benimle özel statüye sahip başka bir grup insan var. Bu çocukları ilgilendiren ebeveynler budur. Talepler harika. Batten ailelerini takip eden çoğu insan, CLN2 varyantıyla yüzleşen bazı ailelerde mevcut olan bir enzim replasman tedavisinin olduğunu biliyor. Bu ilerlemenin gerçekleşmesinden çok mutluyum ve daha fazla gerçekleşmesini diliyorum. Bu tedavi ailelerin tedavi için her iki haftada bir hastaneye gitmesini gerektirir. Genellikle saatlerce yolculuk süresine ihtiyaç duyar ve bazen bir ailenin coğrafi yerleri değiştirmesini ister. Bahsedilebilecek başka pek çok fedakârlık var. Tüm Batten aileleri, çocuğun hastalıkla birlikte savaşırken en yüksek kalitede yaşamanıza yardımcı olmaya adamıştır. Zavallı pnömoni veya kontrol edilemeyen nöbetler geçiren çocuğunun üstünde eğilen bir baba vizyonuna sahibim. Çocuğunu hastanede geçirdiğinde, birkaç kez, tekrar tekrar harcanan anneye ne oldu. Bu sefer küçük savaşçısının Noel'e ev sahipliği yapacak kadar iyi olacağını umuyor ve dua ediyor. Bu yıl kaybedilen ailelere ne oldu? Çocuğu ilk Noel'i cennette geçirirken annesi ve babası eksik bir çocuğun boşluğunu yaşıyor. Sadece herhangi bir çocuk değil, bakım ve fedakarlık yaptıkları bir çocuk. Bağ tahrip edilemez! Bu Noel'teki ailelere gerçekten dikkat ediyorum. Bilinci? Evet, ama sevgili aileler hakkında yazma şansını değerlendirdiğim için minnettar olduğum bir şey var. Bu, fedakarlıklarını, başkalarına neler geçirdiklerini veya şu anda yüz yüze olduklarını anlatarak onurlandırıyor. Dürüst olmak gerekirse, ister istemesen de sevgime ve saygıma sahip olursun. Yazığımın amacı gerçekten de öyle. Bu, aileleri ve cesur küçük savaşçılarını onurlandırmak içindir. Bazıları küçük çocuklar. Bazıları genç, bazıları da genç yetişkinlerdir. Kelimeleri olağanüstü bir Batten annesi tarafından paylaştım ve burada tekrar yapacağım. Bekah Bowman, bunu kısmen bu blogun amacıyla ilgili olarak yazdı. Kelimeleri okuyarak görebiliyordu ve burada şöyle dedi: "Ben şahsen bir yerde ya da sosyal medyada paylaştığım gibi kırık bir rekor gibi biraz hissettiğim her seferinde, bu hastalığı daha önce hiç duymamış bir başka kişiye rastlıyorum. Hikayelerinizi çok iyi ifade ettiğiniz gibi yalnızca farkındalık kadar paylaşmak için daha fazla şey var. "Çöp hikayeleri" ni paylaşırken, her ailenin böylesi kırılmalarla eşsiz yolculukları vardır ve bu çocukların ve ailelerinin her birinin dünyayı öğretmek için değerli bir şeyleri vardır. Diğer pilavın hikayelerini paylaşmaya devam etmenizi seviyorum. Hepsi cesaret, acı, sevinç, güzellik, keder, sevgi ve daha fazlasıyla ilgili inanılmaz hikayeler. Tüm söylenecek hak. " Çok teşekkür ederim Bekah. Noel için gerçekten isteyeceğim başka bir şey, bu ailenin hikayelerini daha çok anlatma fırsatı. Onlarla çocuklarının yolculuğu hakkında yazmamı isteyen ebeveyne her zaman açıktır. İlgini çekebileceğini düşündüğüm kişileri de arayacağım, ancak sormaya çekinmeyin lütfen. Birkaç arkadaşım savunucusuyla, diğer küçük savaşçılar hikayelerini anlattığım için konuştum. Umarım bunun nedeni, hikayelerinin çok ve tekrar söylenmesi haklısın, bunu yapmak benim ayrıcalıklarım olacaktır. Geçtiğimiz yıl boyunca, dünyanın her yerinden aileler hakkında blog yazdım. Tam zamanlı çalışırken. Bu benim tutkum oldu. Bunun benim için bir ayrıcalık olduğunu biliyor musun? Ne kadar çok şey yaptıkça, onlar da o kadar detaylı hale geldi. Çok zihinsel çalışma ve hazırlık gerektirir, ancak bunu yapmayı çok seviyorum. Bu sene çok göz yaşarttım ve insanlara söylemekten korkmuyorum. Gerçekten detaylarla ilgileniyorum ve hakkında yazdığım kişilere bağlı hissetmeye başlıyorum. Bana güvenenlere çok teşekkür ederim. Bu hikayeleri okumak için vakit ayıranlara da teşekkür ederim. Hepinize ne kadar minnettar olduğum hakkında hiçbir fikriniz yok. Ben zaten söyledim ama tekrar diyecekler. Greg, Rosemarie ve Benjamin'den. Mutlu bir Noel ve Mutlu Yıllar Dileriz. Noel için istediğimi aldın mı? Çatalılara ve diğer ölümcül çocukluk hastalıklarına karşı bir çare istiyorum. Bu kürler bulunana kadar savaşacak küçük savaşçılar hakkında yazma fırsatı da istiyorum! İçtenlikle, Greg Lopez Blogcu ve Avukat It is Christmas time! Christmas is for families to celebrate being together. Many from all over the world will celebrate the birth of a very special baby! Adults look forward to having time off and winding down for a bit. We look forward to spending extra time with one another. We look forward to the activities that come with the holiday. Everything about Christmas lights up our senses. Christmas is for everyone but it is especially for kids. For children, Christmas time is magical. The anticipation that it holds for them is both precious and a provider of priceless memories. I have made it clear in my previous blogs that I love kids. Equally, it could be said that I love people with special needs. I also have come to love children and young adults with rare diseases. Mainly, there is a community that I care about. That is the families and their children that make up the Batten community. This doesn’t mean that there aren’t others. I love little warriors in general. Anybody that knows me personally, knows that I love my son Benjamin to the moon and back. He is a really special guy. Benjamin has two brothers, and they are very special as well. They are special in the normal sense. Both are successful in their own way. Daniel is the oldest and Kenny is the middle son. Benjamin is our baby at age 27. We always have joked that we wanted a girl on our third try but got a Benjamin instead. I am so happy that we did. He brings so much joy into our house. Dad is getting older and more sentimental as time has gone on. This is all being fed by following kids with Battens but it has always been there in relationship to Benjamin and those that are like him. Is Benjamin responsible for my sensitivity to the people in the rare disease community? Does my involvement on social media with the Batten community make me appreciate my special needs son more? The answer to both questions is a big YES. It is because of the fact that I have a sensitivity to special needs people that I am also sensitive to Batten warriors and other warriors that are like them. I have shared Benjamin’s life with others on social media and the outpouring of love towards him has touched me. This has increased my appreciation for those who battle Batten Disease, as well as, other types of little warriors. I see the love that some people have for Benjamin and it makes me love my son and those that are like him all the more. Benjamin’s story is a big part of who I am as a person. His story though, begins with that of another. Both stories are about people that are a gift to me. There was a little girl that lived in the state of Oregon in the USA. Her parents loved her and of this there was no doubt. She had dark blonde hair and big brown eyes. She looked so sweet and her appearance held no deceit. She really was just like that. Although her parents loved her they were unable to care for her in the way that was needed. Sad as it may have been, she had to be placed in foster care. So it was that she appeared on the front door step of a home belonging to a minister and his family. The family was large and there was so much need already. There was, however, no way that she could be turned down once her appearance was made known. She became one of seven siblings and she would grow up in a very happy home. Within all those years spent with her adopted family there were no doubt truckloads of priceless Christmas memories. This because after all, Christmas is for kids and those that are like them! Although life had its struggles for her she would go on to overcome and achieve. She had many things that she enjoyed as she grew. One of the most important of which was being with and caring for children. That is where Benjamin’s story begins because his story begins with his mom’s story. That being Rosemarie Jean, or as she is better known, Rosie! That she happens to be my sweet wife is no accident! Does that sound a little bit like a fairy tale? I am sure that there are many that have stories of their own to tell. Like I have already stated, all of my kids are special to me but Benjamin is special because his needs are special. His story comes out of my wife’s own special circumstances. That is why I am including a few of her details. Rosie grew up on the Oregon coast and then central Oregon. I grew up in California. In San Jose to be exact. We met each other while serving on active duty in the Navy. That was all the way near New Orleans Louisiana at NAS New Orleans. She caught my eye and that was it. To this day she is my best friend and it was 37 years ago that we met. Just like most any couple we wanted to have a family and so we did. You could tell that our first son Daniel was brilliant from a very young age. He is a successful IT professional now. Daniel’s middle brother Kenny is highly intelligent as well. He is self employed and does quite well. Trust me when I say that they do not get their intelligence from me. Benjamin was born on April the 4th of 1990. We had moved from San Diego to Gilroy California and that was where Benjamin came into this world. He was born at South Valley Hospital. It never dawned on us that we might become parents to a special needs person. My wife’s biological mother was affected much like Benjamin would turn out to be. We however, were fixed on the fact that both his brothers were fine. Whereas Benjamin’s older brother Kenny had met or exceeded all his milestones, Benjamin did not. He was sick a lot. In fact, it wasn’t until we were told about a special baby formula that he began to get better. Constant ear infections and congestion were the biggest concerns at the time. He was just slower in everything that he did. Slow to pick his head up and to sit up on his own. He was slow to stand up and slow to walk. He would need a wheelchair to get around. We received help from Shriner’s hospital in attaining custom AFOs for ankle support and this helped him to learn how to walk. They did for us what our private insurance often failed to do. In the course of time we would become aware of the fact that Benjamin was developmentally delayed. That is, in fact, a big part of his condition to this very day. While being seen at Shriner’s hospital, he was seen by a geneticist who would do testing to determine a diagnosis. While she found evidence to suggest that Benjamin has a degenerative disorder, she could never give him a diagnosis. Benjamin would have his first seizure when he was about nine months old. That was a complex or grand mal seizure. These days they are well controlled by medication but the amount that he needs would be of concern to most parents. Which is worse? The medication or the seizures? Along the way, he has experienced, grand and petit mal seizures, as well as absence seizures. One type, which name escapes me, involved him starting out in a deep belly laugh. He would then go into a grand mal. We love to laugh together but in that case you had to be careful. At age seven Benjamin Had an incident that landed him an extensive stay in the hospital. He aspirated into his lungs. He was taken by ambulance to the hospital and then life flighted to another facility that provided the care that he needed. The doctors said that he couldn’t be any sicker and we have never come any closer to losing him. Benjamin is a gift. I know that Aspiration is a common problem with children that have certain variants of Batten Disease. We understand but we would never compare our situation with someone in the Batten community. Your plight is as rare as the disease itself and you have our love and respect in the biggest way. Over the course of time, Benjamin has been placed in several classifications by school systems and county programs. Cerebral Palsy, Neuromuscular disorder to name a couple. He is Autistic for sure and he functions at different levels in various areas of development. He is mostly non verbal but uses a combination of signs and single words. As time has gone on, and his weight has increased, he has become unsteady on his feet. He has issues with his equilibrium. You can sense his frustration at times with his inability to control his body’s function. He tends to get over stimulated and excited at times. This is revealed by a violent form of rocking and flailing of his arms. He can also use these same gestures to show happiness and excitement. There have, for sure, been problems along the way. There have been challenges and concerns. Only God knows how long we will have him. Benjamin is a warrior of a rare kind but his longevity is as unknown as his disorder. My son is a gift. One thing was evident through all of this. That is that Benjamin has his mother’s sweet disposition. Many times, people that have met him talk about what a sweet spirit he has. I know one thing. Mom and dad are crazy about him. Yes, it is true. We should be enjoying the benefits of an empty nest. The benefits of having him in our home are to us, so much greater. Benjamin is his mom’s mini-me even though he now towers over her. I call them the twins or ‘My Two Faces’. We are very closely knit together. Can you tell? Yes it is true that I love kids. I love kids and I also love those that are like them. The biggest and most present characteristic of Benjamin’s disorder is the fact that he is developmentally delayed. When it comes to his development he is varied in how far he has advanced in any particular area. One thing is for certain. He has kept his childlike innocence for a lot longer than a normally developing person would. Oh yes, he can get his grouch on, but there usually has to be a reason for it. When he is in a good mood, which is most of the time, he is oh so sweet. He loves to smile and his smile is infectious. The two of us are especially close and there has been tons of laughter while spending time together. Some of the best pictures have come as a result of dad making Benjamin laugh. I couldn’t imagine him missing from my home and so this makes me think of all of you who are missing a loved one. You may be one of the many that have lost their young warrior to Batten Disease. I could be talking about someone like my friend JoAnn Caudle who lost her special needs son Tommy to cancer. Whoever you may be, it is my heart’s desire that you would find peace during this holiday season. Just like any other one who is childlike, Benjamin enjoys the wonders of Christmas. When the decorations go up, the anticipation begins. Benjamin has a room full of toys and many of them come from Christmases past. It seems that most of the time the toys just sit there unnoticed. He loves buses and stop signs more than anything. I had bought him a toy city bus one year and I thought that he would absolutely love it. He opened it and just set it off to the side. I was like oh well, I tried. You know what though? He came back to it and he often keeps it on his desk right where he plays. He is aware of things but you cannot always tell. He will take it with him from time to time. Benjamin has a lot of school buses. He rode on them frequently when younger, so thus, the fixation. There is an end table and a chair in his little playroom or ‘man cave’ as we like to call it. I like to eat my breakfast in there early before going to work. It is always dark when I go in and I have to feel my way through to the end table and the lamp that is on it as I go to put my cereal bowl down. Sometimes the little table has a lot of toys on it and I will think that my wife has rearranged things. I will mutter something under my breath but as It turns out it is actually Benjamin that is responsible. He is paying attention but you would never know. That is an aspect of his autism and his delay. One year, I was thinking to myself that he had enough toys and that we should only get him clothing and other things for Christmas gifts. As he finished opening all of his gifts he looked at me and said the words ‘toys’. My heart sunk within me. In his deep voice he said ‘toys’. Christmas is for kids and those that are like them. Benjamin, you will always get toys on Christmas from now on. I promise! When it comes to Christmas, I love to give gifts. In fact, I love it more than anything. I can’t think of much that I would want for myself except to help others. I wish I had more to give. Well, maybe a new laptop would be nice. Ha ha! Anyway, this year we will send out something for our kids that are away. Benjamin will have presents by the tree on Christmas day. As far as me and Rosie, we don’t plan on doing anything much for each other. We will, however, be sponsoring a child. We will be doing this through an organization called Mito Wishes Upon A Star. Each year they help find sponsors for children with Mitochondrial Disease. My dear friend Christen Brawley has done an excellent job of finding sponsors and we decided to help. There is one other person that we have in mind and there could always be last minute additions and changes in plans. The idea for this particular blog entry came as a result of a chat that I had with my friend Donna Brown. She is one of the many friends that I gained through following a special little girl named Ali. Most anyone that follows kids with rare diseases knows who Angel Ali is. Ali, of course, had Batten Disease but has since made her home in heaven along with the many others (Batten Disease really isn’t that rare). At it’s height, Ali’s page hosted 134K likes. That is a lot of people. It is not a contest to see who has the most likes on their Facebook page but there is something that I would like to point out. If a 134 thousand people are out telling all their friends about Batten Disease, that creates a lot of awareness. Not only did it create a lot of awareness but it also created a lot of friendships that have endured. There are a lot of people that I really care about whose friendship with me came about because of Ali and her mom, Donya Catlett. One such friendship is with Donna. Donna has created a page and an organization through Facebook called Teddy’s Angels. I was so pleasantly surprised when I learned about all that she is doing in the way of spreading awareness about childhood cancer and rare diseases like Battens. She has created characters using costumes that she uses for getting the message out to others. She goes out in public places and spreads awareness to people who do not yet know. Donna gives talks to children at the schools in her area. Her husband is a truck driver and they have placed Teddy Angel’s ribbons and logos on the truck. This helps them to spread the word wherever they go! Donna has also raised money directly to give to families whose children are battling cancer. You go girl!! This Christmas she and her team have set a goal of sponsoring 85 children to receive a Christmas gift. Last time we talked, she was oh so close to achieving that goal. How cool is that! After all, Christmas is for kids and those that are like them. Donna attributes the inspiration that she received for doing all of this to following two special children. One with childhood cancer and the other with Batten Disease. The child with Batten Disease was none other than Angel Ali or Ali Vise. Ali was loved by so many people, one of which was Donna. Like so many others, she had a dream of meeting Ali in person. That dream became a reality when she, along with her husband Jeffry, attended an event put on by Ali’s mom, Donya. You can only imagine that being a very special meeting for Donna and in fact that is what she would tell me. Meeting someone who is so loved and followed by so many is a great privilege and it comes to very few. When it happens you know that you are experiencing something special and it often times can have a profound impact on you. Much of what Donna is doing is being done because of an angel that she met who had Batten Disease. There are a very few things in the way of material objects that I would like to have as a gift. I really receive so much more by doing for others and seeing the joy that comes to those that gain from something I was able to do. My writing is really for others although I have received so much by doing so. So I want to acknowledge that like Donna, my life was changed because of Ali’s life. It has been a gift given to me. It didn’t happen on Christmas although it may be one of the best gifts that I have ever received. Ali’s image has adorned our home during every Christmas since we first became aware. I started to follow Ali in what had to be the year 2013. It was through a series of Facebook pages that I was led to Ali’s Angels. Up to that point, I didn’t know what Batten Disease was. I had heard it said by others that when it came to Donya and Ali, it only took one look and you were done. I can testify that to be the case because the same thing happened to me. Now since that time, there have been other Batten warriors and their families but it all started with Ali and her family. It was through Ali that her grandparents received the sweetest nicknames. Donald and Doris Catlett became Papa Cat and Nini Cat. I just thought that the entire family was so neat. I was taken by Ali’s plight and the sacrifices that were being made on her behalf. I read every post and made comment. Like so many others, I did my best to get to know Donya and her family on the deepest level that I could from across the country and I tried to help in every way that I could. I started writing posts on Facebook about Ali and Donya and it showed people how we felt as a family. I can remember people making comments about the posts as if to say, wow, who is this guy? The same type of feelings that I have shown in my blogs about Batten families first existed in those posts about Ali and her sweet family. It was in those original posts that I discovered that I love to write. Like Donna Brown, I felt like I needed to meet Ali and so in June of 2014 we would make the trip. I have shared that the trip to meet Ali was made in conjunction with the opportunity to dive an underwater memorial that is dedicated to a Navy SEAL who gave his life in service to our country. His name is Adam Brown and he was from Ali’s hometown of Hot Springs Arkansas. It was actually through Adam Brown and his memorial, named Fearless Rock, that I learned about Ali and Batten Disease. That has always amazed me. My perspective and motives in life were all changed by these events. At the time we were selling a rental house. I had to plan the trip and take diving lessons while staying well during cold flu season. Everything had to go according to plan and it did. In all our years of marriage we had never been on a long distance vacation but we were going to Hot Springs. It was Benjamin’s first and only airplane ride. We told him that he was going on the ‘bus with wings’. He did a great job and we were so proud of him. It was exciting and there are so many details that we could share. You will often hear people talking about Christmas being a magical event. In fact it is. Especially if you are a child or one of those that are like them. Meeting Ali and her family was a magical event for us and it was one of the greatest gifts that we ever could have received. It was Donya that told me that I should blog about the event. This has led to greater understanding about expressing myself through writing. It was only a lunch date but the time spent was priceless. The love that Donya had for Ali was even more evident as we met in person. Ali was flawlessly cared for and was in fact pure perfection. The conversation was rich and the memories will always be sweet. It is hard to know what impact the event had on Benjamin but it is very clear that it had a profound effect on me. This is my Christmas blog! One of the best gifts that I have ever received is having my perspective in life changed. Coming to the realization that it is not all about me has changed me. It is so much better if we are in this world to help others. Especially if we are talking about Kids and those that are like them. Especially if we are reaching out to those that need extra attention or a source of encouragement. That is why I so enjoy being involved in the Batten community, as well as those communities that are like them. Being a servant to my son has taught me much. Being a part of his story and sharing it with you means a lot to me. I look forward to what is coming up in this blog and I’ll do it for as long as I am able. I so appreciate the families that have allowed me to write about their precious warriors. Batten Disease is not that rare, is it? I have written about a family from Newfoundland and one from South Africa. Maybe the sweetest one of them all comes from Plymouth in the UK. Greece and Turkey are the homes of two really good friends that care for wonderful warriors. My Royal Family lives in England and of course there have also been many families here in the USA that have placed their trust in me. All of their stories have been written in the blog because I have been allowed to do so. All of them are special to me. So this is my Christmas blog. It has been written at Donna Brown’s request because she is honoring my Benjamin as one of her little warriors for Teddy’s Angels! After all, he is little at heart. We have included both of our families meeting Angel Ali because her sweet life has impacted both of our lives in a very big way. I hope it makes sense to you. I have stuffed this blog like a Christmas stocking. Packing it carefully with a lot of different things. Please remember that you are important to me and please remember this…. Christmas is for kids and those that are like them. It is, however, a time for us all! Merry Christmas! From the Lopez family Greg, Rosie, and Benjamin “....then I broke as I realized I was also writing down a bucket list for him. No parent should ever have to think of the worst case scenario or have to write bucket lists and try to rush memories. It does also make you think of what is precious and what matters more. Where it's up to us to decide what's important. In other words, what fights I want or don't want.” Valerie Trayner ~Kayden’s mum~ For most people, it is the normal thing to seek a mate and to want a family. It is what we were created to do. Some people are different in that respect and that is fine as well. I never had made any real concrete plans concerning a family. It was just the natural thing to do as life moved along. I met this really sweet girl 35 plus years ago and we wanted a family together. She was one of seven children and my parents had three boys. I was born in the middle of two other sons. Having children generally goes hand in hand with marriage although there are exceptions. It never dawned on us as we were having a family that we might have a special needs child one day but it happened. We have no regrets as we absolutely love our Benjamin. Our lives were changed though when he came into this world. Even if we had developed plans for the future, they would have been altered by his appearance. In the beginning, there were lots of doctor appointments and trips to the hospital. It took some time to get his seizures under control and there were, of course, other issues that needed to be addressed. Things have really settled down now even though Benjamin still does require a lot of attention. The amount of joy that he brings to this house cannot be measured. I have no idea what the future holds for him, but the memories that he is supplying us are things that we will always treasure. I have always had a sensitivity to people with special needs. Well, at least for the 27 years that Benjamin has been on this planet. Something About These Children When it comes to kids in general, I have not always paid that much attention. By that, I mean that I haven’t always put that much emphasis on little people. What I am saying is that they haven’t always been my focus. It is true that you have to be a pretty hardened individual to look at a young mother and her child and not be affected by what you see. The difference for me these days is that children (and sometimes young adults) have become my focus. As a result, we will be in a public place and will see a little person that has just learned to walk or one that is especially adorable and I will take notice and watch. There is a reason for this. The parents, If they happen to notice me, would have no idea why. They wouldn’t know how following children and young adults with Batten disease has affected my sensitivity towards children in general. But it has! I notice kids more now. I have used a phrase before that is quickly becoming my motto. It goes like this, “I hate Batten disease, but I love the families that battle it.” I cannot tell you the amount of tears that I have shed on behalf of the families. Their stories create a mixture of emotions in me and feelings that are now a part of who I am as a person. I will never be the same. As I write this, It has been a few days since I had placed a post on social media concerning my writing about Batten families. I am always pleased to see positive affirmation from those inside the Batten community concerning this which has become so important to me. One set of comments that I received was from Bekah Bowman. Her comments concerning these stories showed her appreciation towards them, but they also revealed much about her own experience. Bekah and her husband Danny are parents to not one, but two boys that were diagnosed with Late Infantile Batten disease. Their beautiful son Titus has gained his wings and Ely continues to battle. What an inspirational family they are! In the post I had this to say, “It is a very difficult thing to be told that your child has a rare disease for which there is no cure. There is nothing worse. I am inspired by the way that each family handles their situation and they are so appreciated.” They are in fact, all dear to me. Bekah, in part had this to say in response, “...While you share 'Batten stories', each family has their unique journey of traveling through such brokenness, and every one of those kids and their families have something valuable to teach the world. I love that you continue to share my fellow Batten family's stories. They are all incredible stories of courage, pain, joy, beauty, grief, love and more. All deserve to be told.” Two People Meet Bekah is so right. Not only that but she speaks from experience that can only be gained by walking in a Batten parents shoes. These stories do deserve to be told. They are all incredible for the very reasons that she pointed out. Telling these stories has become a big part of my purpose and this is definitely my passion. This next story takes place in the capital city of Edinburgh, Scotland of the United Kingdom. There are so many stories that could be told in such a beautiful and important place. A place that is rich in history and culture. None of those stories, however, has the importance of the one I would like to tell. This particular story is about John Trayner and Valerie Mcneill. Two young people that met and fell in love. They were both 18 years old when they met. John and Valerie worked at the world famous Edinburgh Zoo and that is where their relationship began. John worked in maintenance and security, and Valerie was a catering assistant. They were very much attracted to one another and a bond was formed that included the desire to have a family. Their hearts desire would soon come true in the form of a special little bundle. As November the 4th of the year 2008 approached John and Valerie were anticipating one of the biggest events of their young lives. That is the birth of their first child. They were so terribly excited as the day approached. This couple was uncertain about what the future held for them but they did know one thing. They wanted to be a family. Three, maybe four children was a number that they felt would make their family complete. It was on that day in November that their plans would begin to take shape as little Kayden made his appearance into the world. He was so perfect in every way. He had all his little fingers and toes and you guessed it. He came brand new to the showroom floor complete with that new baby smell. As Valerie held Kayden in her arms for the first time, she knew that her life was changed forever. She felt that it was for the better and who could argue with the fact that was indeed the truth. Valerie was never the type that was career driven and she was constantly changing her mind as to what she wanted to do in life. With her newborn son in her arms, she felt that she had purpose. As she would tell me, she felt that unconditional love that she had never known before. Kayden was born without any complications. He was healthy and he was a perfect size baby at 7 pounds and 15 ounces. Sounds a lot like an eight pound baby to me! Valerie would tell me that he was a really happy little guy from the start. As he continued to grow, he filled the house with joy and his happiness spread to all who spent time with him. He always had a smile on his little face and as such, a family friend nicknamed him “Smiler”. The nickname spoke volumes about Kayden and why would it not be true. A childhood should be filled with lots innocent fun and laughter. Having a smile on your face should be the order of the day and for Kayden it was. I am sure that he was the center of attention and everybody’s focus. Kayden would achieve all of his milestones and this pleased mum and dad. Everything looked wonderful for this little guy and his parents were so pleased. The future was bright and they must have had big dreams for their son at this point. What would he achieve in life? There was nothing unusual about him that stood out and the possibilities for Kayden were without limit. He was a busy little man as you might expect. When it came to the terrible twos, Kayden was all about that. In fact, he loved that stage of his development so much that he kept going with it. This according to his mum! She remembers that she would tell other people that the terrible twos were just continuing on. She heard this was the case from other mums about their children, and so she didn’t think too much about it. Kayden would of course grow to love activities that were physical in nature. He loved things like tennis and football, and according to his mum, anything “Sporty”. Valerie would go on to say that he would try anything once! His most favorite thing of all was and still is professional wrestling. His love for wrestling was fostered by the fact that it was a favorite of the entire family. Kayden is also a lover of dogs. His mum said that he was and still is to the degree that perhaps he should have been one himself. She would refer to Kayden as her “dog whisperer”. As Kayden’s fourth Birthday was approaching his mum and dad decided that it was time to make things permanent and official. They would wed on August the 3rd of 2012. It was a big event and it was done in Scottish tradition. Kayden was their Page Boy and he looked so handsome in his kilt. Handsome yes, but perfectly adorable too. Look for yourself. Not only did he look handsome but he performed his littles duties so well! Things were really shaping up and you can sense the love that was felt among all of them at that time. A life together. As a family. It had just begun and the future looked so bright. A little over a year later, on August the 24th of 2013, Kayden would become a big brother to a little guy named Kodie. For the Trayners, the entire experience of holding a newborn baby would happen all over again and it was beautiful. They were so excited as their offspring grew by a multiple of two. Not only that but Kayden now had a little brother. Their family felt complete and Kayden had someone to spend his time with. He had a playmate and a companion. His mum saw a tag team partner and someone he could teach his love for wrestling to! Valerie had visions of Kayden being a doting and protective big brother to Kodie. A life companion to him, no matter what. This is so very special! There was no way that at that time they could have imagined taking a journey of a rare kind together. At this time Kayden had a command of the alphabet. He could read and write in large part and he knew his colors. Valerie said that Kayden knew the theme of most of the wrestlers by age three. That had impressed her and those that were around them as a family. She thinks about this often. It was at age 6-7 that Valerie started to notice that things were not quite right with Kayden. She put it like this, “I couldn't quite put my finger on it but just certain things didn't make sense.” Something's Different Valerie first thought that the things that she was seeing in Kayden were related to behavior. This lead her on a search to find answers with Kayden’s behavior in mind. She compared symptoms she would find to what she was seeing in order to find an answer. She told me that it was as if there was a tennis match going on in her head. She would think one thing and as she searched on Google, she would undermine herself. Did Kayden have ADHD? Perhaps, but he wasn’t hyper. Was he then just suffering from Attention Deficit Disorder or ADD? Was she looking at Autism or was it nothing at all. There were several people that were telling Valerie that he was just a typical kid who was approaching seven years old. She felt that maybe that was the case but her motherly instincts were telling her otherwise. At that time the family was in temporary housing and all of this was adding more stress to the situation. She kept running through the things that were taking place and was thinking through the situation. Valerie commented on some of the things she was seeing in Kayden, “It was things like him getting excited over a bus pass and his need to tell everyone, everywhere we went. His need of wanting your constant attention no matter what else you were doing or if you were talking. It was also a constant worry as he liked to tell everyone, especially when on the bus. He's a chatty boy, like his mum, and would tell people where we were going and who he was with. He would still do this after the constant chats with him about stranger danger and the pros and cons, etc. He was doing this at school also.” Kayden also suffered from a lack of concentration unless the subject was something that he was focused on himself. Valerie would ask Kayden to recite his contact information to which he would become confused when trying to do so. This happened while Kayden’s friends from school could rattle the same thing off without any problem. Concerning his concentration, Valerie said, “It was as if there was a switch being flicked on and off continuously.” Like any parent would have, she consulted with doctors but she was told that he was just a “typical boy”. I think that doctors often times make judgements based on observations made during a 15 minute appointment. Often times, they dismiss comments made by the parents because they feel that the parent is not educated enough. The time spent at home is invaluable though, as no one knows a child like a parent does. No one could possibly know Kayden like John and Valerie. It amazes me how mothers will watch their children and observe them and their behaviors like no one else can. They know their child better than anyone else. The term “Doctor Mom” comes to mind. In Valerie’s case, Dr. Mum is perhaps a better fit! As was already stated, she knew something was up and she would continue to look for answers. The next thing that would cause her to be concerned about Kayden was issues with his eyesight. Valerie stated that on a day when she was visiting her mum that they observed Kayden sitting literally right in front of the television. When Kayden was asked to move back his response was that he was sitting that close because he could not see. Valerie went on to say that she looked at her mum while being confused over what Kayden had just said. According to her, he had passed his eye test at school and he was doing well there. Even with his homework. Valerie’s mum urged her to take Kayden to the optician for peace of mind and so she did. Tesco Opticians was near their house so it made sense to drop in. Kayden was tested and Valerie noticed how much the testing had changed since the time she was little. She tried to explain the problems that she was seeing with Kayden’s concentration, however the lady helping them just smiled and went on with the testing. The optician told kayden what to do step by step as Kayden would talk to her in between about his life. Valerie became concerned as Kayden started to guess about things that he should know the answers to. Things related to shapes and the alphabet. Valerie again mentioned Kayden’s concentration. It was suggested that Valerie wait outside as another lady entered the room, thinking that it would be better to work with him one on one. In the end, She was told that Kayden needed glasses. Kayden was excited about that but in time Valerie would realize that the glasses were not helping as he was forgetting them. Valerie would go on to say that homework was becoming more difficult and the level of frustration was increasing. Kayden was turning lights on a lot and his reading was slowing down. Again, as his mum, she could see these things happening. To her it seemed like everything was going backwards. The road to a diagnosis is often long and difficult and she was concerned. Thinking that perhaps the strength of his prescription was wrong, Valerie got him in at a different optician. This time she went to Specsavers to see if they could help. Again, she brought everything up to them. The testing was basically the same, only the room was darker this time. Kayden would guess at the answers unless the things he was looking at were big and bold. Valerie was told that all was fine and that Kayden just needed a slightly stronger prescription. However, after a couple of weeks had passed she realized that nothing had really changed. It was during this time that she received some advice when she was having a conversation with another mum and explaining her frustration. The mum told her that she needed to keep fighting for Kayden if she felt something wasn’t right. This no matter how many times she has to repeat herself. She went on to state that Valerie is Kayden’s mum and she is the one that knows best. That was rock solid advice gained through experience! The mum that Valerie was talking to worked eight years to receive a diagnosis for her own child. She went through many different professionals to do so. Valerie knew that she was right and that she had to continue to fight. She proceeded to take Kayden to the doctor and this time she would put her foot down while keeping herself together. This in order to make herself heard! Searching for Answers It was the first part of 2016 by this time when Valerie received a referral from the doctor to go to CAHMS (Children and Adolescents Mental Health Services). Valerie was relieved that she was apparently getting somewhere. This even though the doctor may not have fully understood what Valerie was trying to tell her. The day of the appointment with CAHMS was also the day that the Trayners would be moving again. This made for a stressful situation but they had no choice in the matter. Valerie was the person that needed to provide the information. Kayden was asked to draw in order to occupy himself. Instead, he wanted to chat with the case worker and he kept rushing the pictures. Valerie, then handed her phone and headphones just so that they could talk. As the conversation concluded Valerie was told by the worker that she definitely wanted to see Kayden again. This however would have to wait as there was a six month waiting period. What? This family needed answers now! During the visit she told Valerie that it didn’t seem like Kayden had ADHD as his teacher would have said something. She did see that there was truth to what Valerie was telling her and the Trayners were advised to come back. In six months. In talking to Kayden’s teacher, Valerie was told that if Kayden could have the teacher’s attention the entire time that he would take it. She said that there were times that Kayden would interrupt and then go on to tell her what color of shirt he was wearing. It had to be perplexing to try to understand what was going on inside of Kayden’s mind at this point. How frustrating it must be when you are trying to correct something and you don’t know what it is you are dealing with. Valerie would tell me that her and Kayden’s teacher discussed using a reward chart with him because his behavior was up and down. They were also still dealing with the glasses issue. Valerie’s frustration continued to grow but she remained determined. As she would tell me, “I was starting to feel that maybe it was me and I was just doing and going about everything the wrong way. I had to keep going though. I was on the right path. I just had to keep fighting so I made ANOTHER appointment with Specsavers.” My admiration for Valerie at this point in the story continues to grow! Valerie recalls that it was March or April of 2016 that she would return to Specsavers. This time she repeated herself while giving more details. She stressed how she felt about the way that the original testing was performed. Valerie stated that she did not feel that it was working for Kayden and as such, she got results. The result was that she was given a referral for Kayden to go to the Princess Alexandra Eye Pavillion. While there, they would be able to spend more time with Kayden and would perform more extensive testing. Valerie agreed that this was needed and she felt that it was another step in the right direction. She was just taking things one step at a time while being firm as she fought for Kayden. She knew that something more was taking place and she needed answers even though the outcome might bring distress. As she would tell me, “Not once did I stop to try to think of what the worst case scenario could be. Maybe I didn't want to know. Maybe I just knew there was something but didn't want to know what.” The appointment for the Eye Pavilion was made for June 17th of 2016 and they were on time at ten o’clock. Valerie said that she will never forget what was said as the appointment progressed. The physician turned to Valerie and stated that it appeared that Kayden could not see out of his right eye. If he could, then his vision had to be blurred. Things continued to become more telling. Kayden was asked to put a tissue in the trash bin. When directed to do so, he tried to put it in a box instead. He then was redirected to the bin. The following is more of what Valerie would tell me, “Things started to makes sense but why hadn't I picked up sooner, why hadn't the opticians. She also proceeded to tell me that no matter what age the child, if the glasses were working he would have kept them on, even a newborn. Hence why he kept taking them off.” Drops were put into Kayden’s eyes and additional testing was done. They were very thorough. The pieces to this puzzle were beginning to come together. After the testing a conversation took place in which it was told that Kayden most likely had a form of Retinal Dystrophy. The family was then told that Kayden needed to be referred to Children’s Hospital in Glasgow. There, they would have the type of equipment that would allow more extensive testing to be done. Unfortunately they were told again that it would take a few months. In the meantime, the family looked for ways to assist Kayden in performing tasks throughout the day. The appointment at Children’s Hospital would take place sooner than expected. On July the 21st of 2016. There they would perform Electrodiagnostic testing on Kayden’s eyes. This type of testing measures the amount of electrical activity in a particular part of the body. In this case, it was used to measure the amount of function in Kayden’s retinas and optic nerves. If an abnormality was to be found during the tests, brain and retinal disorders could be investigated further. John would accompany Valerie and Kayden as they made their way to Glasgow. They had explained to Kayden, at his level of understanding, what was to take place. Valerie said that Kayden did a brilliant job while there, even to the point that the doctor was impressed. Unfortunately, they would have to wait until early August to get the results as the doctor was not able to give them to the Trayners at that time. It was also in July that John and Valerie would find out that she was pregnant for the third time. They were excited but Valerie also had mixed feelings with her concern over Kayden. They always said that they wanted three children and that a girl would be nice. What was going on with Kayden though? In Valerie’s own words, “ We were scared and nervous and excited as you get anytime you find out you are pregnant. However, when I thought about Kayden, I felt dread only because I didn't know what was in store for him. Would he go blind or was it more? Would his brother end up the same. It was hard to decide and concentrate on the future when we didn't know about the now. But I kept saying to myself to be positive and all may just be okay.” Piecing the Puzzle It was on the 6th of August that the Trayners had an appointment at the Princess Alexandra Eye Pavilion to discuss the test results from the hospital in Glasgow. At the appointment they were told that most of the retina at the back of Kayden’s eyes weren't functioning. It was the part that recognizes colors and pictures. Valerie would say that again, another piece of the puzzle was found. This helped them to make sense of what they were seeing at home and at school. As they were being seen, John and Valerie mentioned the pregnancy and their situation in temporary housing. The consultant said that he would write a letter for them to give to the council. This in order to help explain their situation with Kayden’s condition. The changes in housing had to be extra difficult while dealing with Kayden’s condition. In many of the stories that I have done so far, there have been several instances of misdiagnosis and delays that have wasted precious time. The fact that Valerie fought for Kayden made a lot of difference in him getting the attention that he needed. It is not that the other parents hadn’t fought. It’s just that the physicians in their community were sometimes slower to figure things out. In this case, the puzzle pieces were being fit together and genetic testing would fill in the remainder of the puzzle. While at this same appointment, the referral was given to have the testing accomplished. Valerie would emphasize the importance of this taking place, “‘.....he referred us to the genetic testing as he was most certain that this was genetic and testing for this was of great importance for Kayden, his siblings, and of course for us.” And so it was on the 26th of August that Kayden and his family would attend an appointment with a Dr. Lampe at the Genetic Services. While there they explain to the doctor what they were seeing in their son in relationship to his Retinal Dystrophy. Valerie also informed the doctor about her current pregnancy. Her first scan was scheduled to take place in the middle September. The doctor explained that these investigations were done by taking one step at a time. She did share that they would try to speed things up because of Valerie’s pregnancy. At this time the family was unaware as to whether or not Kayden’s brother Kodie or the baby would inherit what he had. John and Valerie would have a blood sample drawn for testing. Valerie explained in her own words what she was feeling as new information was given to them by the doctor, “She also spoke about investigating the possibility of metabolic and neurological conditions. She explained that some of these are progressive in nature and affect the brain in addition to the eyes. I broke between the seriousness of what I was hearing and my hormones. I couldn't believe what she was saying. Suddenly I got flashes of my boy from birth until now. What if kodie was to go down the same route? After all there was no significant signs with Kayden. I remember us walking out of that hospital, looking at each other and John just hugging me and us both saying how that definitely wasn't what we were expecting.” Kayden would, of course, take things in stride. He had an appointment on the 29th of August to have blood drawn at the sick kids clinic. Valerie was nervous over this, but not Kayden. As it turns out, he loves getting poked and getting blood drawn. I am sure that other parents would love that to be the case. Valerie remarked that his bravery brought her peace of mind. Kayden was even more excited that blood had to be drawn from both arms. As a result he left that day with an extra prize for having done so! Just like any other young couple that desires to have a family, there is no way that the Trayners could have anticipated the type of difficulties that would lie ahead. Difficult decisions and hardship are not the types of things that we normally plan for. It was now the beginning of September of 2016 and it was little Kodie’s turn to be in the spotlight. He was starting nursery school and this filled him with a mixture of nervousness and excitement. John and Valerie’s little man was starting out in the big world. Later, having completed his first day, Kodie returned home skipping with excitement. It should have been a happy occasion but Valerie had been having problems throughout the day with morning sickness. By that evening the problem had become so severe that she had to be taken to the hospital by ambulance. Valerie was suffering from hyperemesis. She ended up being in the hospital for three weeks. Valerie stated that she was unable to eat and drink, and she was even having problems swallowing. She was weak and said that her head was all over the place. She was missing her children. John was left with working in the night, taking care of the kids, and making trips to visit Valerie. How difficult this must have been, especially with Kayden’s condition still being unknown. What about the extra attention that Kayden required? They had Valerie on an IV drip to get fluids and she stated that she was feeling like a pincushion. It was during her second week, on the 14th of September, that a nurse brought news to Valerie’s room. Dr. Lampe was coming to talk to the young couple. Valerie said that her heart sank within her. This because she knew that the situation had to be serious for Doctor Lampe to visit the hospital to discuss things. Valerie went on to say that she sat there watching the clock until she was wheeled to a private room for privacy. Dr. Lampe made it to the room and once there went over the findings of the tests. The news and Valerie’s reaction is as follows, “...she told us that Kayden had Juvenile Batten disease, also known as CLN3. How myself and husband both carried a faulty gene. I had never heard of it. The majority of what she said was a blur. I couldn't process what she was telling me I just kept looking at John then holding my belly. She explained how I needed to think on what to do now and that they could provide prenatal diagnosis if we wanted. The doctor said there was a 1 in 4 chance of Kodie and this pregnancy to be the same as Kayden. I wanted my boys and to hug them so tight. Once she left I kept looking at the leaflet which broke it down but I still couldn't process it.” Valerie said that she felt responsible. Questions came to mind. Could she manage a newborn when she didn’t even know what dealing with Kayden’s condition would entail? What if one of the other children had it? What if she was in the hospital for the entire pregnancy? Her boys needed her. What John had been managing for a couple of weeks, may turn into months. The possibilities would result in the Trayners having to make the most difficult decision of their young lives. This is a couple that wanted three or four children. The thought of terminating a pregnancy would have never entered their minds but the decision had to be made.The following quote allows us to understand what this mum was feeling at that time, “It was the toughest decision I ever had to make. I was slowly starting to understand Kayden’s condition but we still didn't know what the next stages would be and when or if his brother had the disease. However, I did know that I had to put Kayden first. I couldn't manage all this and a newborn. I felt horrible for even thinking or making termination an option but my boys needed me. I cried and cried every day and night. Being on a ward with other pregnant women and having a woman giving birth on the ward tore me even more.” Living with Batten While they were still in the hospital a friend that the couple had worked with decided to open a gofundme account for Kayden. This so that the family could raise as much money as they could in order to make memories with Kayden. That is where my opening quote, which is from Valerie, comes from, “....then I broke as I realized I was also writing down a bucket list for him. No parent should ever have to think of the worst case scenario or have to write bucket lists and try to rush memories. It does also make you think of what is precious and what matters more. Where it's up to us to decide what's important. In other words, what fights I want or don't want.” And so it was on September the 26th, after a very painful decision, that they terminated their pregnancy. Valerie returned home to John and her children. You know as I was preparing to do this story, I came across this part of the Trayner’s information and I was concerned as It provides some controversy. They wanted to tell it because it is part of their journey and I have to say that I greatly admire this couple for doing so. To be placed in that position and have to make that decision is more than I can wrap my head around. So where do I stand on this? I will simply tell you. I hate Batten disease, but I love the families that battle it. In fact it is true that I may love this family a little bit more. Kayden, with all of that comes with CLN3, is a two man job and Kodie is a typical toddler. John and Valerie would find out that while Kodie doesn’t have Batten disease, he is a carrier. Kayden’s story is still in the process of being told. Some of Bekah’s words come back to mind as I begin to close. When it comes to these stories, she said, “They are all incredible stories of courage, pain, joy, beauty, grief, love and more. All deserve to be told.” There is no doubt that many, if not all of these, will be experienced by John and Valerie. I am glad that they have the support of the entire Batten community, as well as, that of family and each other. I know that they have mine. They attended their first BDFA (Batten Disease Family Association) conference in November of 2016 and as I write this, they are at their second. Valerie had this to say about the first time that they attended, “we made some lovely friends and it was a relief to be around people who understood or “got it”. Although we walked away feeling like we had been hit by a bus, we knew we needed the information. We needed to see fully what this monster would do to our warrior.” The Trayners have been told that Kayden is unique in that he was the first to be diagnosed on the behavior side of Battens. Kayden has not experienced any seizures but his dementia is a constant concern. They battle with Kayden’s poor sleeping patterns and behavior issues. Kayden is doll of a boy. He is a hero and a rockstar to me. Valerie says that Kayden still loves dogs and other animals. Of course, he also still loves WWE professional wrestling. His long term memory is fantastic. His mum stated that the last time he was tested on the wrestler’s themes, he got 123 out of 138 correct. Kayden, you put me to shame little man. Kayden started at Braidburn primary school this past summer and it is having a big impact on him. I am so happy to know that Kayden is loved and that he is being cared for. He is so deserving! Best wishes Trayner family. Thank you for sharing your story with me and for helping me to tell it to others! ~Greg Lopez~ Blogger and Advocate “I don’t understand why, when Batten parents reach out to me and tell their child’s story, it always starts out so similar to mine. How their child was so healthy and so active and happy when little. Even a few of the kids have a laugh like Lydia’s that’s so contagious. They were enjoying life and love and family and their child was and is the center of all this goodness. Then major symptoms start to show, and you are told your hopes and dreams will just remain hopes and dreams. There’s all these what ifs and fears and nightmares, and any new possible sign or symptom of regression sends such a terrible feeling straight into your heart.” ~Lilly’s mom~ I was at lunch in the middle of the workday, and was reading through the first email that was sent to me by a Batten mom. I had to stop because I found myself becoming overwhelmed by what I was reading. That is not out of the ordinary these days but it hasn’t always been that way. Sure there were things in the past that brought tears to my eyes. My father-in-law’s funeral that finished with Amazing Grace being played on the bagpipes is one example. That got to me. Especially as the hymn ended and the cemetery became silent and still. Yes, I guess I have always been a little on the sensitive side but not to this extent. Our friend Pamela Cameron lost her grandson Casen to Batten Disease and she still stays involved in the Batten community. Pam said that she never use to cry but now, she sheds tears for every child lost to Batten Disease. For me it seems to happen with every new story that I write. There is this young mother that I have grown to respect a great deal. She has told me that anyone would have done what she is doing. People should know better than to tell me something like that and I have to disagree. She is not an ordinary mother and what she is doing is extraordinary to me. In fact, some would say that she possesses a rare type of character. Being a single mom is difficult enough in any day and age. To try to live on your own and maintain a home environment for your child while providing for their needs is a most difficult thing all by itself. What if on top of that, your child has a rare disease? What if the only way to get that child the treatment that they need requires you to pick up and move away from your family. You have to be driven by love. I have said it before and I will say it again. There is no love like a mother’s love and there is no love like the one which exists between a mother and her daughter. What is it about this particular journey that has my attention? Why Batten Disease? There are so many other rare diseases that I could focus on. Perhaps one day. What about some of the forms of pediatric cancer that plague children. They are all worthy of increased attention. Certainly more needs to be done in the way of funding and research. When a parent finally receives the diagnosis of Batten Disease, it generally comes after an exhaustive search for answers. Sometimes they have had to deal with a number of different doctors to get answers and it takes a long time to get through the maze. Once the cause is determined, the news brings devastation. It is a struggle that I can in no way relate to. Afterwords, what is demonstrated in the way of very determined love is so profound to me. The plain truth is that I just feel drawn to you as families. I have a severe amount of appreciation for all that you go through. Do you find that to be a little creepy? I’m sorry, but I am pretty certain that I am not the only person that feels this way. I love having the opportunity to tell these stories as each one affects me in a very profound way. This next one perhaps more than any so far. Perhaps you’ll see why! Lydia Rose would make her appearance into this world in the ordinary way but to this young mother and her family, it would be no ordinary event. I am certain that she was not the only baby that was born in the city of Chattanooga on the day of August the 27th, 2011. She was however, the most beautiful. That was the opinion of her family and you won’t get an argument from me on that point. She had all her fingers and toes and she was covered in brand new baby skin. She was Alicia’s princess from the very first sight of her. As she held little Lydia Rose, Alicia pondered the possibilities of what life would entail for her beautiful little baby girl. All the events that enter a young girl’s life were before her in waiting. As life would have it Alicia would begin parenting as a single mother. She, however, had very loving parents who supported her from the beginning as Lydia Rose entered their lives. Grandpa Wayne and Grandma Lisa were there, and not just there. They adored little Lydia from the very start. Lilly, as she would come to be known, was the center of the families world and she most certainly had their attention. As she continued to grow, so did the entire families love and affection for her. If you had to describe her in only one word that word would be “cute”. If you were to add to that a little bit, you might say that she was “total cuteness”. When she learned how to talk the sweetest things came out of her little mouth. One example is how she would pronounce her colors. For Lilly, yellow wasn’t yellow. It was Lellow! As she continue to reach new milestones, her vocabulary increased. She would say the cutest things, and as such she had special names for her grandparents. Those names would be Granny and Papaw! Granny and Papaw loved their Lilly as they still do today. There is the saying concerning grandparents and their grandkids. Spoil them and send them home. Well there was a lot of that going on as their house was Lydia’s home. Lisa recalled to me the first time that she was trusted by her daughter to watch Lydia so that mom could go out. Granny was instructed to not hold her granddaughter the entire time. She however, could not help herself as the bond was too strong. She never put Lilly down. You’re so busted Granny! As far as Lydia’s Papaw was concerned, his Princess Lilly was and still is his ray of sunshine on a cloudy day! Granny Lisa would tell me that Lydia was just like her momma Alicia when she was young. Lilly was adventurous and always on the go! She loved to run and especially loved to swing. She kept the family busy as she had so many activities that brought her joy. Painting and singing, as she loved music. Simple things like stacking blocks or feeding the ducks. What child doesn’t love feeding ducks? Running and jumping, hopping and climbing. Princess Lilly was on the move. She loved to blow bubbles and to draw with chalk, but maybe her most favorite thing was playing with play doh. Her Granny was careful to keep the house stocked with play doh because you can never have too much of that around. Not when Lydia is the center of your attention! Of course Mickey and Minnie were and still are her favorite Disney characters. Granny and her had a game that they called pink ball blue ball. They would spend hours playing together at Wayne and Lisa’s house. Granny and Princess Lilly played kick the ball down the hallway and Lilly would laugh and giggle when the ball hit the wall or ceiling. Um, Granny, I thought you weren’t supposed to kick balls in the house. Hmmm! Lydia loves spending time with her family. One of her favorite people on the planet is her cousin Julie. According to Granny, Lydia thinks that Julie “hung the moon!” I take that to mean that she has her cousin Julie way up high on her list of favorite people. Lydia loved her early childhood walks with her cousin and Granny. She hadn’t started walking yet, and so she would kick back in her stroller enjoying the ride with her feet on the tray. These are the kinds of things that grannies remember and cherish their entire lives. As Lydia learned to walk, she was constantly on the go! She loved Moon the cat! Poor Moon recently went the way of feline but when she was still with us Lilly would often ask for Moon Moon! Lisa says that she would find Moon and bring her to Lydia for a few minutes of torture after which Moon would run off until the next time. That sounds so familiar to me for some reason. Lydia’s laugh is infectious and that is one of the many things that her family loves about her. That laugh and all the giggling! You could only imagine that all this activity would tucker Granny out and she would just be exhausted. As she put Lilly to bed and tried to get there herself, their princess would get a burst of energy. That’s where Papaw would come in. Lisa said that Papaw Wayne would stay with the two of them tickling Lilly for at least an hour. As she was tickled by her Papaw she would kick him and he would pretend to be hurt and act like he was going to toss her off of the bed. That would finally wear her out and then it was time for bed! Whew! There is nothing as treasured as the purity and innocence of a young child. The memories of that stage of life never go away. They are only built upon by the memories that are formed as a result of watching your child grow into adulthood. All while enjoying all the various stages of growth. Are you able to get a picture of what this little person means to this family? I bet that you are. After all, we have all experienced the joy of having little people in our midst. Watching all the adorable things that they do. The questions that they ask, the giggles and innocent laughter are all things that are treasured for all of time. Alicia, or Ally as her friends call her, was and is an independent person. As such, her and Lydia would live outside the home while Ally worked at establishing herself in a career. They would, however always spend time at Granny and Papaw’s house. To say that Ally loves her daughter is an understatement. The dreams that she had for her young daughter were without limit. Starting out as a single parent is indeed a challenge, but with the moral support of a loving family, that can most always be overcome. Getting to know Ally, I have come to realize that there are not too many things that she wouldn’t be able to accomplish. This because of her level of motivation and drive. She seems like a very intelligent and articulate individual. She is someone that could meet the challenges that lay ahead and there is no reason that the dreams that she had for Lilly could not be realized. Whether single or married one day, Ally could visualize Lilly achieving all the things that lay in wait for her. Grammar school through High School and into college. Sports, or Cheerleading, High School dances and Prom Night. What parent who loves their child wouldn’t be thinking ahead at least just a little bit? As time would continue, however, events would take place that would be a cause for real concern with Lilly. This would change everything for Ally and her family. As early as one and a half years old Ally saw things in her daughter that may have been precursors to a disease that at the time she knew nothing about. Little Lydia was having sleep issues. She was waking early and staying awake until very late on many occasions. Ally said that she would often wake up crying and would be inconsolable. She went on to say that it seemed liked Lydia’s whole body would stiffen if she was touched. This made her wonder if her daughter was in pain. Ally was also noticing things in relationship to Lydia’s speech. She could not pronounce several letters or speak in sentences with over three or four words back to back. When Ally brought it up to the pediatrician, she was told that this was normal and not to worry about it because Lydia was meeting her other milestones. Gradually her speech improved but this, however, would not be the end of it. Ally remembers that it was on May 22, 2015 that Lydia had her first Grand Mal seizure. This an hour after she sent her to daycare on the day care bus. She would of course take Lydia to the hospital but was advised that one seizure does not mean that she would have another. This however, was not to be the case. Lydia would have her second Grand Mal on June the 1st of 2015. Epilepsy was the early diagnoses after testing was performed. The drug Keppra was prescribed for Lydia but it was not effective. Even with the maximum dosage, Lydia was having one Grand Mal seizure per month. Alicia stated that by August of the same year Lydia had developed noticeable, uncontrollable movements, stuttering of speech, plus sudden and complete muscle loss. The Grand Mal seizures would continue through December. Lydia began to develop abnormal movements and was falling frequently. Ally stated that at the time, she had no idea what was going on and neither did the Neurologists. Was it a side effect from medication or a new type of seizure? Ally had not yet received the actual diagnosis for her daughter and was going under the assumption that Lydia had Epilepsy. She looked at what the side effects are for the current medication and compared them to what she was seeing in Lydia. She felt that she may have the answer. The procedure for handling seizure disorders in general is to add more and or different medications until the seizures are under control. Topamax in capsule form was tried next. The doctor recommended that the powder be sprinkled on Lydia’s food even though Ally explained that her daughter was having issues with speaking, swallowing, and eating in general. This not to mention that the medication would not dissolve on the food. Lydia was receiving next to none of the medication. Nothing was working for relieving little Lydia’s of her seizures. According to Ally, Lydia continued to have movements that were out of control and dangerous. She would have a body part jerking quickly every three to five minutes or she was dropping to the ground. Is there any way that we could possibly imagine what it was like for this young mother at that point in time? What about sweet Lydia? What was all of this like for her? What was the damage she was seeing in her daughter as a result of all the seizures. She said that eventually, things would build up until Lydia had another Grand Mal seizure. The totality of what all this was doing to Lydia was so disturbing to this momma. In her own words, “She was bruised, scraped, and cut up by now, but the hit her spirit took from constant physical limitations, her own little person minded misunderstandings of her condition, and mistreatment she received by less than par local daycares is what I saw hurt her the most. My happy child thought her seizures were people she cared about pushing her down, and she made it clear she felt this way, and that her feelings were hurt worse than the trauma her body was experiencing.” I can only imagine the concern that Ally had for her daughter at that point. What about Granny, Pappaw, and the rest of the family? This little person had become such an integral part of the family and the center of their world. This little person brought so much joy to their home and now all of a sudden her health had declined and things were out of control. They did not have answers for what was going on. Ally’s own anxiety was growing to the point that she reached out for help. The trauma all of this was creating was startling: “I pleaded for help, because Lydia was beginning to be covered in bruises and the daycare was not comfortable with what she was going through either. She was losing coordination, sleep, and the ability to even walk without dropping flat on the ground. She still suffered one grand mal a month. She seemed to have no control over her body anymore. She had potty accidents, when before she began having seizures she was potty trained. I needed help for Lydia because nothing was working. We rode public transportation for two years. Even though she used to walk up the bus steps and wave to the driver, and even sing her abc's on the bus, she was now at the point where she couldn't walk without holding my hand. She was too tired to sing, and was weary from falling down all the time.” It would soon be determined that sweet little Lydia was experiencing Myoclonic, Drop, and Absence seizures. She would at one point have been through several different medications in the search of relief and eventually she would be on a cocktail of medications. Alicia had seen enough and needed answers. Obviously, there was more going on than just Epilepsy and she had reached her limit. She commented in an email what she was feeling at the time, ”I repeatedly and frantically called the neurologist til we were scheduled to go to Vanderbilt on October 22nd, 2015 for a better understanding of Lydia's sudden change in movements.” It was on that day that little Lydia was checked into Monroe’s Children’s Hospital for a two to three day video EEG. Ally stated that Lydia had to stay in the hospital long enough for the Neurologists to determine what kind of seizure activity she was experiencing. This would also allow time needed to perform any other testing that would help them determine the root cause of the seizures. In the course of trying to determine what was going on with Lydia it was thought that she may have what is called Doose Syndrome. Doose Syndrome is also known as Myoclonic Astatic Epilepsy. This syndrome affects people in their early childhood and the disorder is characterized by difficult to control generalized seizures. The types of seizures that Lydia was experiencing, i.e., Drop and Absence seizures, are included in that category. Ally described her feelings concerning that possibility, as well as, learning what was causing the abnormal movements seen in her daughter, “...my heart broke again that day when reading about Doose, and learning that her abnormal movements were due to myoclonic, drop, and absence seizures that had begun to be noticeable after her 2nd grand mal in June.” Doose would eventually be ruled out much to Ally’s relief, however the results of the EEG were revealing. According to Ally, Lydia's test showed seizure activity all over her brain. It even included nocturnal seizure activity. She would describe it in such a way as to say that her daughter’s brain was like a storm. The drug Depakote was added and other medication adjustments were made. This helped for almost two months. The seizures were under control and the abnormal movements had stopped. Alicia was concerned about the side effects of all the medications that Lydia was on at this point, but she had to have been somewhat satisfied by the improvements she was seeing. This however, was temporary. Two weeks before Christmas, the seizures would return. This time however, they returned twice as bad. Whatever this monster was, it was relentless. Can you imagine what this family was experiencing during this holiday season? The level of anxiety that was being experienced by Ally? Ally said that further testing was declined by the insurance company for, quote, “lack of importance”. The only option that was made available was to add another medication, one that is named Onfi. Again, Ally not only had the concern for what the seizures were doing to her daughter’s health. She was also concerned about the effects that the cocktail of pharmaceuticals was having on her daughter’s little 37 pound body. This is what Ally had to say, “…she suffered another grand mal, and I watched all four seizure types return. My little girl was back on the floor after getting knocked down again by another drop seizure.” Can you imagine what this family was experiencing during this holiday season? The level of anxiety that was being experienced by Ally? Alicia said that it was at that point, while being agitated and frantic, that she requested more testing. She went on to say that Lydia had labs taken for genetic testing. Tests that would look for any mutations that may be causing all the seizures. Fearfully, she had no idea what was happening to Lydia. Around the time that the results were to be given, Ally received a letter from the insurance company. Payment for the testing was declined. What? Words like “experimental” and phrases such as “not helpful to assist in her treatment” were used. Wasn’t she going through enough at that point? To have that come from the insurance company at that time seems so cold and inhumane. She said that she was floored by the wording in the letter. Who could not understand how she must have felt at that time? More phone calls were made and it was determined that they would return to Nashville to have genetic tests that the hospital’s program would pay for. The geneRx test was performed, however they would have to wait three months to receive the results. While waiting for the results, Lydia was regressing. She began to wear a helmet for her safety and she had to wear pull-ups due to accidents. Ally kept Lydia close by her side for fear of her getting hurt while having a seizure. Her speech was slurred and she was stuttering. She no longer sang songs and was barely able to use a spoon to feed herself. Lydia was Ally’s baby girl. Her reason, and the center of her world. The months that it was taking to get a diagnosis had to have been so difficult. To witness the regression was more than what most any person her age would normally encounter. Ally would spend many nights awake due to Lydia’s broken sleeping patterns. She would observe her daughter, watching her body shake and her eyes flutter. Her words concerning those occurrences are so moving to me as I try to visualize those moments in the hours of the night. Her and Lydia together. She commented on little Lydia as she would awaken, “In the mornings, her body was shaky and unstable, but she continued smiling and trying to communicate, and I kept up hope that the test would give us answers and she would eventually be ok. We went to meetings to develop an IEP, for which she did qualify for, and we tried to adjust to all the changes happening all at once, it seemed.” I am heartbroken by this comment as I know what would soon lie ahead for this young momma and her baby girl. For her entire family for that matter. I have been doing these stories for close to a year now and I have been moved by each individual one. Each story conveys the feelings that are experienced by the families as the diagnoses is found out. Almost all of them express what is the depth of despondency, grief, and sometimes rage that is felt by the parents and family. When you love someone as much as this mom and her family loves their Lydia, their princess Lilly, the emotions displayed are completely understood. These are Alicia’s own words which are honest and telling: “April 16, 2016. Vanderbilt called and explained they did find a genetic mutation, and we would need to see our local neurologist for the test results. After my insisting, I learned the mutation was in the Cln2 Gene. Both copies were mutated. The TPP1 enzyme was not being produced. I researched and found Batten Disease, CLN2-Late Infantile. I read the words NO CURE, NOT ENOUGH FUNDING FOR RESEARCH, CHILDHOOD DEMENTIA and EARLY DEATH.That was the day I will never forget because the world stood still. My heart and soul was forever changed and so damaged, and Lydia had no idea what I had just learned. I couldn't face her for hours. I told my family and I watched my strong Dad cry, and my mother broke down, and every day after was the same. I quit my job. I was cracking and so broken. I isolated as much as possible. I felt forsaken by God. I cursed him while standing in my kitchen many days with my fists raised to him.” You know what? God understands the anger! This story doesn’t end here. No not even close. Like the other stories, the parent is overwhelmed with the news that brings devastation and hopelessness. Things then change. I don’t think it is that the feelings of brokenness go away. It is just that added to that comes feelings of resolve towards helping their child battle the monster that is Battens. Ahead are so many sweet memories that come along with the challenges. Such was the case with Ally. Sometimes, it is just time to take action because of love. I don’t mean to wear the phrase out, but “undying love” comes to mind. I have now seen it displayed so often! This quote was taken from an email that was sent soon after the diagnosis. “Even with such a grim diagnosis we have much to do. She's being referred to have leg braces fitted, Speech, PT, OT therapy, and vision testing. She's already passed her hearing test. I requested a geneticist, and am waiting for them to fit us in.” This young Momma jumped to action out of love for princess Lilly and it is why this young lady has my respect. Batten Disease is a battle. Just ask the parents. Ally continued to care for her Lydia after receiving the diagnoses. The symptoms that the disease brings to little Lydia are a constant challenge to this mommy and her baby girl. Little Lydia, or Princess Lilly, continues to face the daily struggles with a smile on her little face. She is just so precious to this old blogger! Lilly would go through spells of crying and yelling, sometimes at a level that was deafening and with her hands clenched. She would go through cycles. Three or four good days and then bad days that lasted about the same amount of time. Emotions would run from high to low for both mommy and her little girl as Lydia would sometimes be inconsolable. Even so, Lydia continued to laugh and display that smile that is just SO darling. Even now, she gives everything that she has to give. Each and everyday. This is testified to by Ally’s comment concerning the character qualities that she sees in her little princess, “Lydia's stubbornness and free spirited nature are beautiful qualities to possess, and most importantly it'll help her to continue to fight. it'll help me continue to fight with and for her.” The disappointment in this young mom over what has happened is difficult to overlook. She has felt that their entire lives have been ruined by Batten Disease. Her dreams of Lydia becoming a productive member of society have been undermined and achieving the things she had dreamed of for Lydia are in all likelihood never to come about. The following quote is something that sounds so familiar. I had heard the same type of thing come from Sands Macphail when I had blogged about her daughter Caitlind. This concerning the loss that Sands knew would come with her own daughter. Similarly, this is what Ally had to say, “I grieved her losses before they even happened. I grieved the loss of her before she was even gone. I had no idea what my purpose was in life other than to be a mother, Lydia's mom, and now I had no reason to live if she wasn't with me. Still, she needed me and I had to pull myself out of death's grip, to keep fighting for her til the end.” How very brave! This is why I hate Batten Disease but love the families and their little warriors. Just think about it for a minute! In her search for help with her daughter, Ally found out about an experimental drug trial while on Clinical trials.gov. This, she felt, was their “last hope”. All the while she was witnessing her daughter’s continued decline. Lydia’s variant of Batten Disease is the only one for which this treatment is available. Ally would, of course, apply for the program. In July of 2016, Ally and Lydia would attend the Batten Disease conference that is put on each year by the Batten Disease Support and Research Association (BDSRA). While there, she had the opportunity to talk to representatives from BioMarine. That is the company that supplies the drug that is used in the treatment. A week after the conference Lydia had lost her ability to walk. She hadn’t eaten for a week and wasn’t moving around. This all led Ally to write an impassioned email to the reps at BioMarine. The email was a plea for help. It seemed at the time that she did not have hopes of Lydia being accepted for the next trial that was coming up. Among other things in her plea for help, she talked about Lydia and the other children at the conference, “ I looked into these beautiful children's eyes at the conference in St. Louis and they are the most beautiful children I've ever met. Even the ones who have declined so much are so full of life and smiles. That's my Lydia, too. She was an energizer bunny. Always running, always smiling, and always socializing. She is slowly fading from me. Her adventurous, daring, and free spirit is barely noticeable these days. She's taken to sitting around when she used to run from the time her feet touched the floor in the morning. To think I used to complain about how tiring it was chasing after her. Now I don't have to chase her, and I'm even more tired. I am mentally and physically exhausted from watching her suffer.” That is just a small portion of what I read. This impassioned mommy said that she felt out of her mind and had written to BioMarine out of anger. In response she received an opportunity to conference over the phone with a couple of the reps from the company. Ally told me that their response to her was compassionate and sweet. How very wonderful is that? A week before Lydia’s 5th Birthday, they received a call stating that the extended trial was open to five children who had CLN2 Batten Disease. They wanted Ally to bring Lydia up to Ohio so that she could be seen by staff members. On August the 29th, two days after her 5th birthday, they were in Ohio getting an eval to see if Lydia qualified. They found out that day that she did and a week later, the shunt was implanted. Two weeks after that, in September of 2016, Lydia had her first infusion. “Looking back now, and after hearing other rare disease stories from amazing parents, I learned that we had/have more to be thankful for that I didn't even notice!” This from Alicia, better known to her friends as Ally. She is thankful that Lydia’s diagnoses came relatively soon compared to others. Her little warrior princess is in a clinical trial that is available only to kids with CLN2 and along the way she is meeting some very wonderful people. “Batten's Disease is an absolute living nightmare. It is hell, and it doesn't discriminate against anyone from anywhere. The only good thing about Battens is the people we have met in the same situation and have become long distance family to. This includes the wonderful therapists who actually have passion for their career, and the compassionate Batten's disease specialist and her pro-active staff in Ohio. The uplifting support of the Batten's Disease Research Association, also in Ohio. They have made their presence known from the very beginning, and it is such a light in our darkness.” In fact she refers to some of the people that they have gone on to meet as lifelines. That is in fact, literally true! This story is still being written. I was chatting with Ally one day in Instant Messenger and I told her that what she was doing for her daughter was wonderful. She is separated by the miles from her family in Tennessee and is by and large alone with her daughter. Yes, I am sure that they have made friends along the way. I know that the people at BDRSA have been a tremendous help and support to her. Her response to me concerning their being in Ohio and undergoing the treatment is that it was not going to save her daughter. That is in all likelihood the truth. We need an actual cure and our hope is that one would be found. You see though, that is what makes the story all the more sweet. This mommy will do anything to help improve her daughter’s quality of life. Anything to relieve her of the symptoms and progression of the disease. If you had seen the amount of information that I had to work with for this blog. If you had seen all of it’s content. You would have the same amount of respect and appreciation for Ally that I do. She is an amazing young lady! I wish them all the best. Granny and Papaw too! Like the rest of us, Princess Lilly is here for a time. Hopefully a very long time to come! She will impact the lives of this family like none other. She will teach people how to love more deeply. How to surrender and sacrifice. How to show Undying Love! The things that she and others like her teach us will be hopefully passed on to those with whom we make contact. The lessons learned should be passed on. Yes, there will be heartbreak along the way but the memories that are formed will be so sweet that they should carry this mommy and her family through the difficult days. Let that be the case! Ally said that anyone would have done what she is doing. What would you have done? When most young women are shaping their careers or finding true love, Ally has another agenda. Her priorities surround the health and welfare of her daughter. While she says that anybody would do what she has done, I can’t help but to be completely impressed by her. Dear Lydia, you are so precious. Our heart's desire is that you continue to fight this monster for a long time to come. We want a cure for Batten Disease. Our prayer is that the treatments that you are receiving help to keep you whole. What we hope and pray for more than anything is that a cure is found for all of the approximately 13 to 14 variants of Batten Disease. Until that time there is love that is unparalleled. Lydia, you are so loved. By your mommy, Papaw, and Granny too. I am sure by your entire family and many others for that matter. You know what Lydia? I love you too! Lydia, I love you! ~Greg Lopez~ Blogger and Advocate I HAVE TO TELL YOU: What I have to tell you is how completely impressed that I am with Lydia's mom, Alicia Headrick. I was very challenged by doing this particular article because of the volume of information that she provided me. Right from the start, I could see that she is a very intelligent and articulate young lady. Being a single mother away from home combined with being a mom to a daughter that has Batten Disease provides her with a most difficult challenge. It doesn't matter what your financial situation is, married or single. Having a child like Lydia is expensive. A lot of families are able to do fund raisers to help pay for expenses. Ally though, is Lydia's caretaker 24/7 and she doesn't have the time. I don't always ask that people give of their resources in support of a Batten family but in this case I will. Alicia is a very responsible person and will use everything given in the help of her daughter very dilligently. So what I am asking is that people look at the link to her gofundme account that I am providing. Please consider helping. Thanks so much!! www.gofundme.com/lifting-up-lydia “Every day I get to be with Sebastian I am completely amazed and grateful to have the time with him, for he teaches me many things about what is really important in this life.” ~Chris Velona~ Sebastian’s Daddy It had been my intent to start a chat with a particular mom from the Batten community at an earlier date, however I had always been busy or it was too late in the evening. Finally, on a Saturday I made contact with her and I was so happy that I did. The conversation just flowed and it was very meaningful to me. We talked about her precious daughter and how she was such a fighter. This mom was so happy that was the case and appreciative of the fact that they still had her daughter present in their home. She expressed to me her appreciation for what I was doing with my blog and for the fact that I have taken up the cause of the Batten community. It is so easy for me to be involved because I truly love being given the opportunity to do my part in everyway that I can. May I never forget that it is an extreme privilege that I am being granted with each story that I am allowed to write. You have no idea how much I appreciate being allowed to do this! Have you heard enough from me yet about my son Benjamin? Have I gone too far with the explanation of what it means to be Benjamin’s Daddy? I’m sorry if I have overdone it a bit but I would ask that you bare with it for a while longer. Benjamin is rare in a sense although he does not necessarily have a fatal condition. I have never meant to give you the impression that he has a rare disease. Like I have already stated previously, I only use his example to show the ways in which we can relate to parents that have a child with a truly rare and fatal disease. Benjamin only has a genetic disorder that has never received a diagnosis. It is inherited, however we do not have a complete history and therefore do not know what the future holds for him. I have failed as a parent in many respects. We had a lot going on in the house when the kids were in their formidable years. I feel like there are many things that I may have done better and differently if I had it to do over again. We survived though and here we are. When it comes to Benjamin, it was easier to be his dad in many respects. Some of the challenges that came with raising his two “normal” brothers didn’t exist with him. I have always adored this guy Benjamin. Can you blame me? His happy disposition and total charm speak for themself. I have said it before and I will repeat it here. Being a parent to a son with special needs has increased my sensitivity to children and young adults with rare and fatal diseases. In particular, Children with Batten Disease. It is also true that being involved has helped me to appreciate him all the more. Does this mean that I am unaware of things such as pediatric cancers and things of that nature? No, not at all! It’s just that I have now written about those in the Batten community enough that I have developed a special appreciation for the journey that they face as families. I love my son Benjamin, and I don’t mean just a little bit! He is much of what is the center of our world. Much of our day is spent helping in ways that he is not capable of helping himself. Parents of children with Batten Disease do the same thing. Only for them, the amount of help and sacrifice is often much greater. In fact, as the journey continues, more and more is asked from mom and dad. When it comes to the position of being an advocate for greater awareness and a cure, it seems that women often take on the larger role. Often times when I write the story, we are talking about a single mom. It makes me wonder if having a special needs child puts a strain on a marriage. What if your child has a fatal disease? Does the stress of being in that situation get transferred to the marriage? Well I won’t discuss that at the moment, but it is worth thinking about. The point that I wanted to make is that when it comes to advocating for a cure for something like Batten Disease, women seem to be having a more active role. All of this is based on my own observations of course. There are some exceptions. Many of the households that are involved still have complete families and maybe dad has to work a lot of hours. I think that a lot of what I am basing my assumption on is the fact than most all of my friends who are co-advocates are women. There are, of course, dads that are strong advocates for their children who have Batten Disease. Christopher Velona is an advocate for finding a cure. He is that, and so much more! Chris is a very active member of the Batten community. We originally met on Facebook of course. It was very easy to tell how much he loves his son, Sebastian, who has Batten Disease. Christopher is one of the exceptions to the norm that I was thinking about when it comes to advocacy work. He is on a journey with his son and is taking action in a most extraordinary manner. To say that he loves Sebastian profusely would be an accurate statement and the action that he is taking, is in large part, the subject of this particular blog entry. I did all the usual things in introducing myself to Chris and in getting information for the blog. He told me that anything in addition could be discussed over the phone. We ended up doing an interview over Skype and I am so glad that we did. It was quite an experience for me! I feel that I was able to get a better idea about the person that Christopher is, but there was something more to it. I got to meet Sebastian! What a rock star this kid is to me! As the interview went on, Sebastian would pop in and out, asking his dad questions. Chris was very patient with him and it just left me with a smile on my face. At one point, Chris asked if Sebastian would like to say hello and so he did. This to me was just priceless! There was two or three times that Sebastian appeared in the screen to check in, only it was at different angles that he looked at me as he spoke. This just made me giggle inside. What a rare character this kids is! I have to tell you that this left a real impression on me. It was an extreme pleasure to meet him! Perhaps part of it is that I have grown to love these kids in a big way. It is, however, also because Sebastian is a rock star all by himself! Let’s tell his story. Sebastian Paul Velona was born to Christopher and Teresa Velona in the city of Glendale California. Just like any young couple, they had big plans for their future. A life together, success, and a healthy family were all part of the plans that they had envisioned. Many of those plans started with the entrance of their little bundle into this world. That all began as they first held Sebastian on July the 18th in 2003. He was perfect in every way. He had all his fingers and toes, and yes, you guessed it. He was delivered to the showroom floor complete with that new baby smell! As Sebastian continued to grow into their little man, he would meet many of his milestones and their expectations for him were without limit. Chris and Teresa’s pride in their little family was multiplied by two as they welcomed Sebastian’s little brother Gage to the family in June of 2005. How excited they must have been! Both of the boys would go through that stage of life that every parent longs to see. Yep. The Terrible Twos! Chris would tell me that other than that, Sebastian and Gage were two of the funniest kids that he had ever had the pleasure of being around. As the boys continued to grow their parents took every challenge in stride. This after all was part of being a family. Chris said that Sebastian was just like any other toddler and as he continued to grow, so did his list of favorite activities. He liked sports such as baseball, soccer, and golf but Chris said that he truly loved riding his bicycle, his razor, and little cars. Innocent childlike fun was the order of the day for little Sebastian and all was just fine. No one would suspect that there was a hidden challenge in store for this family. The beginning of what would become a journey that would never have been suspected took place. This was while the family was on vacation in Maui. Sebastian had his first seizure. This took place in the late summer of 2009 and it would change everything. All of a sudden, they had a health concern for which they sought answers. Chris and Teresa consulted with a doctor that treats epilepsy and he examined Sebastian. They were told that their son was just fine but they would talk about placing Sebastian on medication if another seizure occurred. Sebastian would, of course, go on to have another seizure. He was immediately placed on seizure medication but it would not be as simple as that. Sebastian had a terrible time when it came to the side effects associated with the medication. As Chris would put it, “Sebastian is the poster child for all things, side effects… If it was a warning on the side of the medication bottle, Sebastian had it. Just awful.” Chris would go on to tell me that with some of the meds, Sebastian’s seizures seemed to actually get worse. This is not the first time that I have heard this from a parent that was looking for answers to their child’s seizure problem. The medications would also cause behavioural issues in Sebastian. According to Chris there were also issues with weight gain and weight loss. My own son, Benjamin, takes meds for a seizure disorder and has for a very long time now. For him, things were always much simpler and the medications have done their job for the most part. How frustrating it must have been to try to control the symptoms for a disease that had not yet been properly diagnosed. The seizures would begin to become more severe and more frequent. My heart goes out to Sebastian and his parents as I think about what life was like at that point with all the problems and uncertainty. Sebastian would at this point be diagnosed as having Tonic-Clonic (also known as Grand-Mal) seizures by a UCLA Neurologist. These seizures can cause a loss in consciousness along with muscle spasms and jerking. They are very alarming to any parent or caretaker. Christopher stated that the seizures would sometimes result in injury from a fall. As he would put it, “Often times we were rushed to the emergency room to stitch him up…” What this family would go through sounds all too familiar to someone that has been on the same type of journey. Chris said that they began mixing different medications into Sebastian’s daily schedule in hopes of curtailing the behavioral issues and frequency of seizures. There was a six months period in which this seemed to show promise but their optimism was short lived. In Chris’ words, “ We thought we were out of the woods as they said that most children grow out of seizures or epilepsy all together, but things were changing and it was not his Epilepsy.” Sebastian’s vision was changing and he was having problems seeing things. The Velona’s did what any parent would do. They took Sebastian to the eye doctor at which time he was prescribed glasses. The glasses would do nothing to help Sebastian’s vision. According to Chris his son was not able to do simple things like catch a baseball or find things that were right next to him. This was taking place as Sebastian was approaching his eighth birthday. Sebastian’s parents decided to take him to the Jules Stein Eye Institute where they were told that he had Retinitis Pigmentosa. Much like with Rod/Cone Dystrophy the term covers a broad range of eye conditions. In Sebastian’s case, the rods and cones are missing completely. According to Chris, the family was told that Sebastian was going to go blind at a rapid rate. As it is, there are several different colors that Sebi cannot distinguish. He also suffers from night blindness. Battens is a cruel disease in many respects. One is that it shares symptoms with other diseases and conditions. It masquerades itself as being something other than what it is until the truth is eventually found out. There was just too much going on with Sebastian and his symptoms did not match up with what those experience with normal epilepsy. As a result, his parents decided to have him tested genetically. The results of the testing would bring with it news that was devastating to this family. Sebastian had CLN8, a variant of Batten Disease. These are Christopher’s own words, “Of course we were devastated to learn that Sebastian was properly diagnosed months later in late 2012 with Battens Disease and with the variant CLN8. What we learned was that everything that Sebastian had gone through up to this point of his life, now age 9, were symptoms of this horrific disease.” Chris went on to say that at UCLA, Sebastian was seen by some of the top geneticists in the country. They did not sugar coat their words as the disease was explained to the Velona family. The plain truth was that Sebastian had a crippling neurological disease for which there is no cure. The family was told that their son would in all likelihood be gone by his late teens or early twenties. I can only imagine how they must have felt upon learning the news. Chris and Teri were told that they should make Sebastian’s life as amazing as possible for the time that he had left. Christopher shared more of his feelings in a simple statement, “This type of news puts things into perspective. We had lost many years with a improper diagnosis and felt cheated that our son was going to die well before he had a chance to live.” In fact, that is often the case in finding the answers that these families seek. It seems that change is taking place through things like greater awareness but it is too slow in coming. I have heard of changes just in the time that I have been following Batten families and that is a great thing. In most all cases though, time is lost in determining what is really taking place in a child’s health. Perhaps it is because Battens is still considered to be a rare disease, but it really doesn’t seem to be that rare. Does it? The action that was taken by Sebastian’s parents is so very similar to what I have heard from other families. Being faced with the news that Sebastian has Batten Disease must have left them stunned. Christopher would say that they attempted to keep Sebastian’s life as normal as they possibly could. Sebastian stayed in school, attending special education classes. Fortunately, the school system in their home city of Santa Clarita is very accommodating. In fact, Chris would tell me that the people that work, with special needs kids, at Sebastian’s school are amazing. Maintaining a sense of normalcy is important. Like a lot of parents that are faced with the type of thing the Velona’s would encounter in Sebastian, they would decide to take action in the fight against Batten Disease. Especially when it comes to battling the variant that their son has. This however would have to happen as individuals and not as a couple. You remember what I have said in a number of my blogs in regards to couples and what sometimes happens in marriages. Life happens! Sometimes marriages do not survive the stresses that life can bring. I asked the question earlier, can the impact of having a special needs son or daughter affect a marriage? What if a child has a terminal disease? The answer is that yes, it can often have that kind of an affect on a relationship. All it took was a simple Google search and there were several articles that came up. They validated that answer as being yes, it certainly can. For whatever reason, whether finances or otherwise, it happens. The stresses that can come from having a child with special needs can add to others that already exist. For Christopher and Teresa, life happened and they each went their separate ways while remaining friends. Teri is now happily remarried. While this particular story is a collaborative effort between Chris and myself, It needs to be said, that Sebastian’s mom Teri is a fabulous mother to him. She not only shares the custody of Sebastian, but also the passion that Chris has for spreading awareness and finding a cure for her son. This is testified to by her own activity on social media and her efforts that are aimed at increasing funding for a cure to CLN8. Two people that have gone their seperate ways can always still work for a common goal. In this case, the goal is helping their rock star son and others that are like him! Both of Sebastian’s parents are very actively involved in his life and their shared love for him is readily apparent! Chris co-founded the company Sequoia CBD and he works from home. This allows him to work for the benefit of others, while spending a greater amount of time with Sebastian. CBDs are marijuana extracts that can be used in the treatment of numerous diseases. The one in particular that I would want to highlight is, of course, epilepsy. It can also be used to treat seizures related to diseases like Battens. By my own admission, I have in the past been a little skeptical of this type of thing but I have really changed my mind. There have been cases where it is known that allowing the use of alternative medications for seizures in Batten children could have made a difference in the quality of their lives. In those cases, it was not legal in their particular state, but it should have been! That needs to change. I have a buddy, named Jeff, at work, whose wife Jenni suffers from epilepsy and also has issues with anxiety. The doctors had her on a number of different pharmaceuticals to treat these conditions. The side effects for her were just unreal and they created a situation that was unbearable for the family. Fortunately for us here in Oregon products derived from marijuana are legal like they are in California. Jenni now uses CBD oil for her epilepsy and THC for her anxiety. This was with her physician's blessing, and is achieving results. While we have Benjamin on standard pharmaceuticals for his seizure disorder, I am in favor of these alternatives. Christopher said that they used CBD with Sebastian from 2014 to 2015. He had this to say, “...he did really good on those. Cognitively, we were able to reduce around 15% of the pharmaceuticals due to the fact that the oils were working in his favor.” He went on to say that while using CBD didn’t necessarily reduce the number of seizures, cognitively he had a much more alert child. Chris also created Project Sebastian. In the beginning, Project Sebastian was created by Chris to help parents with free medication alternatives. This took place during clinical trials using CBDs at a major university. Remember that Sebastian was initially diagnosed with Epilepsy. Chris has since curtailed his activities with Project Sebastian to helping to find a cure for Batten Disease. The change of direction, of course, took place after Sebastian received his diagnoses. Chris is a handsome guy. Is he not ladies? He works out and takes care of himself. He is a confident individual that could be climbing the ladder of personal success, and it is my impression that he could accomplish just about anything he set his mind to. His goals however, are not self-centered. They are centered around helping his son and others that are afflicted with Batten Disease, as well as other diseases, like epilepsy. He is really serious about creating alternatives for people that suffer from the side effects that can come with the use pharmaceuticals. In my conversations with Chris, I find that he is moved by news concerning other Batten families just as any of us that follow them would be. Perhaps more than us because he walks in their shoes. He wants a cure to this dreadful disease. Not only for Sebastian, but also for others that have Battens. If you go to his website for Project Sebastian you will see the following statement: “We have partnered up with the world’s leading researchers studying gene transfer approaches to pediatric orphan diseases. These groundbreaking and innovative approaches allow us and others a real chance at eradicating this disease. A first of its kind clinical trial has begun at Nationwide Children’s Hospital to evaluate this investigative treatment, providing hope for children with Batten disease all around the world. Helping others and sharing this info is a must!” How is he going to get this done? Many, if not all, of my readers are aware of a non-profit organization called the Charlotte and Gwenyth Gray Foundation, or curebatten.org. The Gray’s story can be seen by going to their website or even by doing a google search. Gordon Gray is a Hollywood producer who had been handed an extra-ordinary challenge. For him and his wife Kristen, the news that both of their beautiful daughters had CLN6 Batten Disease, brought total devastation. Faced with this mountain of a problem, they took action. They sought out the help of researchers who had achieved results in laboratory trials. They then created their foundation in order to fund clinical trials that have thus far brought tremendous results. The Grays have an incredible ability to raise funds and have achieved much in that area. So far they have treated several children in clinical trials that bring REAL hope! By my own admission, I am not a big movie watcher and so I do not pay a lot of attention to the Hollywood scene. This is due in large part to the fact that it doesn’t meet my current lifestyle. I will tell you this. When it comes to the Gray family, I have them, and all those associated with their foundation, on a bit of a pedestal. This world needs more people like the Grays! They are like movie stars to me because of all they are doing. Wonderful people! Christopher says that he had taken a tip from Teresa concerning the Gray family and acted on it. Chris Googled the Gray’s foundation and made a call. Two days later, he heard from Kristen and a lunch date was set up. Over lunch, they put together a plan to help Sebastian. Teri also has a non-profit set up to help her son. It is simply called the Sebastian Velona Foundation. So between all three of these organizations, work is being done to help Sebastian as well as other children with Batten Disease. Chris had this to say concerning the therapies that he learned about during that lunch date and the hope that he now has, “At this time I had no idea what this was or what it could do to help with many different neurological and physical ailments. I firmly believe that this will change the face of medicine and it will start with Sebastian.” The Charlotte and Gwenyth Gray Foundation has given Project Sebastian and the Sebastian Velona Foundation access to the same team of doctors that are providing therapies to the other children. So whether funds are given to Project Sebastian or the Sebastian Velona Foundation, all funds will go to helping Sebastian receive what he will need to be treated successfully. This is truly amazing and ground breaking stuff! Chris says that the Gray family has been instrumental in them pursuing treatment for Sebastian. It costs a sum that is in the low millions of dollars to treat each child and it is not covered by insurance. As a blended family Christopher and Teri work to raise these funds through their specific organizations. Chris had the following to say, “….monies need to be raised to put science to work and to do all of the proper testing which takes months to years to accomplish. We are very hopeful that we as a blended family can raise the money to help Sebastian and others. So we are doing what we can to get attention via newspapers or the TV and local fundraisers. But to be honest we really need national support if not worldwide support through other foundations and very wealthy businesses or individuals. I will not stop until we do find enough money to cure this disease for everybody.” Unfortunately, what works for one variant of Batten Disease, does not work for another. The basis, though, of Gene Replacement and other therapies shows promise towards all of the variants. Hope is in the air. For all of the families that are facing Batten Disease, you have my heart completely. You obviously have Christopher’s too! And how about our rock star Sebastian and the battle that he is facing personally? Chris admits that the challenges are great. Sebastian is affected by declines, physically and cognitively. He has issues behaviorally and then there are the seizures. It has been a while since Benjamin has had a grand-mal seizure. I can tell you that it is scary stuff to see your child shaking from a seizure. It creates a feeling of helplessness. Christopher’s comments about his son and what a warrior that he is really moved me as I read them. Especially what he said about the understanding Sebastian has for his own predicament. “….Sebastian is a warrior! I know a lot of normal kids that do not have this kids type of will, drive and spirit just for life in general. Sebastian fully understands what is to happen to him if there is no cure and this, although it may worry him, has not changed him one bit. If anything it's made him a better human. He helps everyone that he can by hugging them or pushing other kids in their wheelchairs during class or just checking in with you to see if you're OK. He is a true kindred spirit. An old soul if you will. One of very far and few between.” You have to understand what it is like for me personally to write these stories for this blog. I put the table of contents on the right hand side of the blog so that each story can be found. None of them will be lost and forgotten. The details of what each family goes through has effected me in a profound way. I have in the past had two or three families that tell me that they would be willing to work with me in putting their little warrior’s story in this blog. As I am finishing the last one, a couple more will show interest. I am in a sense, sorry that these stories exist. I so wish that Battens and other rare diseases did not happen to children and kids in their teens. I really want there to be a cure and one of my purposes for writing is to raise awareness. These stories are a little sad because they often have to do with the loss of a child. They are, however, meant to be a way to show my appreciation for what the families go through. They are also meant to be a way to celebrate a life, and the impact that it has had on all of us even though it is shortened by this wretched disease. The details of the undying love that is shown is to me unparalleled in beauty. Yes, Christopher Velona could be doing other things with his time. He is however, doing the right thing and the thing that is best for Sebastian. I have heard it said that to a kid the word love is spelled differently. Instead of L-O-V-E it is spelled T-I-M-E. Sebastian knows how much his parents love him. Everytime I tell one of these stories, I try to capture the feelings that come with facing this type of a journey as a family. I do so because I want to provide the reader with that insight. I also ask those questions because I want to know the answers for myself. Most of the time, I am dealing with the information provided by moms. I get what I like to refer to as “Mamma feelings”. They are the best! The answers usually result in statements that are full of deep emotions. I usually ask questions that draw out what the person was feeling at the different stages leading up to the diagnoses, and what it is like to learn of the diagnoses that is so devastating? I have never hidden the fact that I get worked up personally when I think about the information I am given. I expected less emotion as I was interviewing Sebastian’s father but that was not to be the case. As the conversation went on, Christopher talked about the fact that he could lose Sebastian if a cure is not found. He was deeply moved by the fact that he could lose his son, and I was moved as well by his words. As a result, he spoke about his commitment to doing everything that he could do to find a cure all the while spending every minute that he can with Sebastian. It was so easy to see the depth of love that he has for his son. By the end, my reaction ended up being no different than when a mom is involved. The Pappa feelings ended up having the exact same effect on me! I video chatted with Christopher on Facebook again briefly one evening so that I could get an answer to a question. I got to talk to Sebastian once more in the process. It is so easy to see what the big fuss is all about. I am from California originally and do not live far away. I might show up some day to get one of the hugs that Sebastian is famous for. It is really nice to know these two. I am behind them 100% in their push to find a cure and it has been a real pleasure to get to know them. Thanks Chris for all that you do and for your help with this story. It has been a pleasure and I wish you all the best. Get ‘er done for Sebastian! ~Greg Lopez~ Blogger and Advocate Check out the following from Sebastian's Daddy! "We recently did a podcast discussing my son’s rare neurological Gene disorder called Battens Disease, with one of my scientific community members, Dr. Jill Weimer from Children's Hospital in Ohio. This is the link to the Podcast. It was really great!" drdrew.com/2017/wi-38-inside-battens-disease/ |
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. ~Greg Lopez~ 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). Batten Family
Titles - 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 - *Austin Smiles *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 February 2018- *Jamesy Boy and The Treatment - CLN2 March 2018- *The Priceless Princess From Beyond - CLN2 June 2018- *That Kind of Love - Conner's Story - CLN2 August 2018- *Lasting Impressions September 2018- *What I See (She is a Butterfly) - CLN1 October 2018- *No Longer Alone - Kristiina's Story - CLN2 November 2018- *Things We've Talked About - Oscar's Story - CLN7 *The Reason Why - Hannah's Story - CLN3 December 2018- *Kayla's Perfect Princess - Breanna's Story - CLN2 February 2019-
*Warriors Unaware - Mia and Kaleb - CLN2 April 2019- *Her Little Story - CLN1 May 2019- *Someone Like Raelynn *Forever Royal - The Final Version - CLN2 August 2019- *Awfully Beautiful - The Life of Noah and Laine - CLN2 September 2019- *A Lifetime of Love - Tegen's Destiny CLN1 December 2019- *Forever Beautiful - Gabi's Story - CLN7 January 2020-
*The Miracle Baby - Amelia's Story - CLN1 March 2020- *Dylan's Life - A Small Town Story - CLN2 May 2020- *Princess Grace and the Challenges - CLN2 June 2020- *Anything for Tessa - Her Story - CLN2 September 2020- *Haley Bug's Battle - A Family Story - CLN1 November 2020- *Journey Unexpected - The Rich Family - CLN2 January 2021-
*My Life, My Everything - Lydia Rose - CLN2 February 2021- *A Love That Hurts - Shashka's Story - CLN2 July 2021- *The Things Looked Forward to - Addy’s Story - CLN3 November 2021- *Love Complicated - Bailey Rae's Story - CLN3 April 2022- *So Many Questions - Evelyn's Story - CLN2 January 2023-
*The Feelings They Produce - Violet's Story - CLN2 February 2023- *Because of Love - Frankie's Story - CLN2 April 2023- *The Need to Breathe - Scarlett's Story - CLN2 MPS Family
Titles - July 2020-
*The Beautiful Light of Haidyn Grace - MPS3 August 2020- *Any Distance Traveled - Reagan's Story - MPS3 September 2020- *The Missing Someone - Kiernan's Story - MPS3 March 2021-
*The Transformation - Victoria's Story - MPS3 April 2021- *Not by Accident - The Charlie Grace Story - MPS1 June 2023-
*The Difference They Make - Harvy's Story - MPS6 September 2023- *Love Profound - Veda Rae's Story - MPS3 Archives -
April 2024
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 Letter to Larry - February 2017 |