¨Good days, bad days. You know the story. Probably like most of us Batten parents. My children are my world and I felt it was falling apart, but I picked myself up and just got on with things. I tried to make life as good as we could for both the kids, but it wasn't easy.¨
Caitlind's Mum and Advocate
I sometimes have felt that when it came to planning a family my wife and I didn't do too good of a job. We already had two boys and we didn’t have a huge income. As usual, I was supporting my family on my own but we decided that we wanted to try for a girl. I sometimes tell people that we wanted a girl but got a Benjamin instead. We were young and never gave it a thought that it was likely that we would be parents to a special needs child. Our first two boys were born normal and healthy for the most part. We didn’t take into consideration that my wife had a known genetic disorder that ran in her biological family. She was adopted. And so, we received our special gift. Unlike a child with Batten Disease Benjamin did not reach all his early milestones. It did not come as a surprise that we had this challenge. We just didn’t know everything that it would entail. Trips to the doctor. Lots of phone calls. Seizures and medication changes. Medical equipment and braces for his legs early on. There have been challenges, yes. But you know what. We absolutely love the guy and we have no regrets. Not one! Along with the challenges, he has brought with him a constant source of joy. He is still very childlike in so many ways and he is such a teddy bear!
Things are different for a parent of a child with Batten or another rare and fatal disease. In their case, they are taken completely by surprise. As the child begins their life, the parents have no idea what will befall their son or daughter. The plans that they had are all at once change with the news that their child has a disease that they most often didn't even know exists.
Such is the case in this next story. This story takes place in Scotland. In Livingston, West Lothian to be exact. West Lothian is one of the historic counties within Scotland. This beautiful place has within it a mixture of old world charm and modern day culture. Once dominated by shale oil mining, Livingston is now the hub for much of the high technology and pharmaceutical industry in Scotland. Many of the pictures that I see include lots of green lawn and attractive architecture. Looks like a wonderful place to live. I am sure that with all the history that surrounds this place, there are many stories that could be told.
One of my most favorite names on Facebook is that of Sands Macphail. What I am about to write is part of her’s and her family’s story as it relates to Batten disease.
Colin and Sandra Macphail had a plan for a family. They wanted two children. Both felt that was a prudent number of kids for them because they could better provide for that number. Who could argue with that? They would go on to have two girls. Sometimes one gender or the other runs predominate in families. My wife’s sister Laurie and her husband Randy have three girls. I can recall Randy saying that he would have given anything for a son. That is except for one of his daughters! I wonder if Colin had thought along those lines? I know that he loves his daughters so very much. And Sands? Well I have often thought that there is nothing like a mother’s love. Even more so, there is no bond that exists like that which is between a mother and a daughter!
Caitlind Macphail was born on November the 17th of the year 1991. Sands gave birth to her baby girl at John’s Hospital in Livingston, West Lothian. Like all beautiful babies, Caitlind was so perfect in every way. She had all her little fingers and toes and, you guessed it. She came brand new to the showroom floor complete with that new baby smell. She would soon join her big sister Jade at the Macphail house and their family would be complete. Mom and Dad were so happy. Both of their daughters were beautiful and their world would begin to revolve around them. A huge part of their purpose in life was raising those two girls into adulthood. Although there was no way that Colin and Sands could see everything that lay ahead of them, they had a general idea of how they would want things to turn out. Success, good health, and prosperity for both of their girls. A little bit of rain must fall, as they say, into everyone's life. However, the Macphails had no idea how much rain that would include. Caitlind had every appearance of being a normal child. Sands would tell me that while Caitlind was not academically gifted, she had her way of showing people that she was bright and intelligent. Typical of a lot of kids, Caitlind’s room was often a little messy but she knew exactly where everything was. Her parents referred to her space as “Organized Chaos”. As Sands would tell me, Caitlind was good at reading pictures and knowing which DVDs were which. Sands would send her for a specific hair bobble and little Caitlind would know exactly which one was which. She was funny and sassy too. I take that to mean that Caitlind had a little bit of a cute and spunky attitude to her. The MacPhails had noticed that Caitlind’s eyesight was not the best but that didn’t deter them from placing her in the mainstream school system. Sands would tell me that they were a bit hesitant to send Caitlind at an early age but felt it was because she was their baby. So at the tender age of four, Caitlind started attending preschool and then early elementary. Caitlind’s older sister Jade had started school from an even earlier age and according to Sands, Jade had coped with school well from day one. Who would think anything other than that Caitlind would do just as well? In fact, Caitlind would do well as she began her early education and would continue to fit in well with many of her peers. Everything seemed to be falling into place for this family of four.
Colin and Sands would have to make the usual types of decisions that parents normally have to make for their child. Then things would begin to become more complicated. Caitlind’s peers began to outgrow her in academic and social development. Caitlind was their baby and they were beginning to become concerned about her. The Macphails believed at the time that Caitlind was perhaps dyslexic. Having the family that they planned meant everything to them and there was nothing that Sands would not do for her little girl. Sands wanted to have Caitlind tested, however she was only five years old at the time. Normally, children in the UK are not tested until they turn seven. This was not acceptable to Sands and so after a lengthy fight, Caitlind was tested. It was found that she did have some dyslexic tendencies, however the testing would tell them that her problems were across the board. As a result, the education board decided that Caitlind did not have dyslexia. Sands explained to me that as Caitlind turned seven, she was still fighting for her as her problems were getting worse. Another concern that continued to be an issue was Caitlind’s eyesight. Sands would address this by taking her to an optician. She mentioned to the doctor that she thought that her daughter was dyslexic. With this the doctor gave her a full test and then referred Caitlind to a hospital that has vision problems as a specialty. The trip to the hospital would prove to be the unraveling of the Macphail’s world as they knew it. It was there that little Caitlind, now seven years old, would receive the diagnoses of Rod Cone Dystrophy. Rod Cone Dystrophy is the name given to a wide range of eye conditions. All of these conditions are linked to problems with the rod and cone photo-receptors. The photo-receptors either do not work when a child is born or else they stop working over a period of time. This disease most often leads to blindness.
The news of the diagnosis was devastating to Colin and Sands. This, after all, could cause Caitlind to go blind. The Macphails thought that perhaps that was the reason that Caitlind was having problems with her education. Caitlind would go for regular check ups for her eyesight at the hospital. She also sat closer to the teacher and received extra help. None of this, however, seemed to help and the family’s frustration and concern continued to grow. The stories that I know of and have written about often include accounts of misdiagnoses. It seems that doctors will usually place on a child a diagnosis that seems obvious to them. Perhaps this is understandable as Battens is rare. Sometimes, it seems that more could be done by a physician. More energy could be expended. Without all the symptoms showing at this point in Caitlind, Rod Cone Dystrophy must have seemed to be the proper diagnoses.
At nine years of age Caitlind had her first seizure. Can you imagine what things must have been like for Colin and Sands at that point? How was all the extra attention needed affecting Caitlind’s older sister Jade? Sands would tell me that it was at this point that her world would continue to fall apart! First Caitlind was having problems socially and academically, being passed up by her peers. She showed signs of being dyslexic but was not receiving a diagnosis as such. Then she had problems with her eyesight and received a diagnosis for a disease that would most likely leave her blind. And then, seizures. The confusion and heartache that must have surrounded the family at this point. Sands asked the doctor if the seizures were related to her eye problems and he assured her that they were not. According to Sands, it seemed that Caitlind’s seizures would continue until she was placed on a medication called Epilim.
Eventually Colin and Sands felt that they were making progress with Caitlind’s situation and so they refocused their attention on her education. Caitlind was becoming more and more isolated at school as her peers were all continuing to grow into maturity. Things were different for Caitlind. According to Sands, for her “time stood still where maturity was concerned”. And so the Macphails decided to get the ball rolling to place Caitlind into a more suitable school. At this time Caitlind was in the 4th grade and something needed to be done. The Macphails would pay a visit to the Royal Blind School in Edinburgh. Edinburgh is in a different region and this caused Sands to be concerned that Caitlind would not be able to attend. In fact, they were refused a place at the school. When it came to both her children, Sands was a fighter. She would not take no for an answer. She consulted with a Doctor Valentine in Livingston. According to Sands, he was a fabulous Doctor. At this point, the Macphails still did not know what Batten disease was but as Sands would put it, “That was only just around the next corner”. The family would next receive a phone call from a doctor at St. John’s hospital. He stated that the school doctor wanted Caitlind tested for Batten disease. Sands took Caitlind to the children’s hospital in Edinburgh for the tests which included a rectal biopsy. They had to wait several weeks to receive the results. I wonder what was going through their minds during that time? After all they had already been through only to sit and wait for the results of this testing. Sitting and waiting to see if Caitlind had this awful disease. Sands still remembers the date that they received the results of the testing. It was on the 26th of August in 2002 that they received the all clear. They were told that Caitlind did not have Batten disease. They were excited about the news to the point that they shared it with friends and family. They knew that something still wasn’t right but they gave themselves a mental break. They believed from the news they received, that Caitlind did not have Batten disease. Life would continue on for the Macphail family.
The next thing Sands knew, it was early December and Caitlind’s next appointment was approaching. Her regular physician, Dr. Valentine, was not available so she was seen by a Doctor Sha. The Macphails thought that this would be a routine appointment related to the seizures and Colin attended this one on his own with Caitlind. It was during this appointment that Dr. Sha proceeded to ask Colin how the family was coping with Caitlind having Batten disease? Colin informed the doctor that they had a letter stating that the test results had come back negative. The doctor, though, had a letter saying that Caitlind’s blood tests had come back positive. She in fact had Juvenile Batten Disease, CLN3. Caitlind had five different tests performed on her and four of them had come back negative. The blood test is the one that would reveal the truth. Princess Caitlind had Battens but for some reason the news of the results from the blood test had not reached the Macphails. And so it took from the date of the letter they received in August until the appointment in December for the family to receive the confirmation. Can you imagine? This is often the type of thing families face when it comes to Batten disease. Sands would tell me that as she got home, Caitlind and Jade were upstairs playing and Colin was downstairs in the sitting room. Understandably, he had been overcome with emotion. Wouldn’t you have been also? Not knowing what was happening, Sands contacted Dr. Valentine. He confirmed that the blood test was in fact positive for CLN3, Juvenile Batten disease. The doctor would look for answers as to why all the other testing had come back negative.
This all took place five days before Christmas. The season that is normally reserved for peace and good tidings brought with it news that would completely rock the Macphails world. Their beautiful daughter had a fatal disease. As Sands would put it, “This was one of out worst Christmases ever. We were all devastated. Once again our world was to come crashing down and to be honest it's never been fully rebuilt.” Depression and anxiety would become part of their life at that point. I have to believe that this is common among those families that deal with similar circumstances. Who could argue that this type of news would be devastating to any parent. I think that the Macphails must have been like so many other parents facing this situation. Faced with the news that Caitlind had Batten disease, they were initially devastated. Then, they asked themselves. What next? How can I care for my child in the best possible way? In fact Sands had this to say, “When we were given the diagnosis both Colin and I sank into depression. We were walking about like zombies. Both of us were grieving for a child that was still with us, and who was to be with us for a considerable amount of time.”
This is not to say that life would just go on for Colin and Sands. In fact Sands would share with me that the entire incident of her baby becoming a Batten warrior would cause her to develop clinical depression. She still deals with it to this day. They, however, did then and still do now put one foot in front of the other each and every day. I am sure that other Batten parents can relate to this type of thing. Caitlind would be accepted into the Royal Blind School after being denied access initially by the local council. They wanted her educated in her local area within West Lothian, however Sands fought for her daughter’s placement. Caitlind would do very well at the school and it was apparent that it was an excellent fit for her. She made many friends, the best of which was named Alana. The school catered to her needs and there were only four students in her class. She was getting the attention that she needed. Her teachers were and still are fantastic. In fact, some of them still keep in touch with the Macphails. In addition, Caitlind would go on to attend a social group called RNIB. It was led by a lady named Jane Coates. Caitlind absolutely loved this group and, according to Sands, she attended for a good few years. She felt like she belonged. Sands volunteered while Caitlind was attending.
So there were some positives in the midst of very trying struggles that came with Juvenile Battens. I can only imagine from a great distance, the ever deepening bond that was created between Sands and Caitlind. A mother and her daughter. Not only a daughter, but one in great need of help. Knowing what may lay ahead of them as a family, and yet trying to maintain as normal of a lifestyle as they could. The extra time, commitment, and activity, all while providing for the physical needs of a family.
The years would go by without a lot of changes. When Caitlind first started attending her new school she was walking and talking. Sands would tell me, half jokingly, that Caitlind was eating them out of house and home although for some reason she did not take in fluids very well. And then, one day, sweet Caitlind got out of bed crying. Sands said that this went on for 18 months. “She would cry and scream from the minute she got out of bed until the minute she went back to bed.... it was awful for her, and to be honest, for us all.” According to Sands, Caitlind was never violent, but in her words the screaming was “soul destroying.” I can understand how that type of thing over the course of the day would be absolutely unnerving. This is how Sands would put it to me, “I'm a very patient person but sometimes I'd had enough so I'd go into my laundry room, close the door, scream myself, then go back to Caitlind. It was all I could do to stay sane.”
Then came the stage where Caitlind was having problems swallowing her medication. Sands said that it would take 3 to 4 hours at times. It was so frustrating for Sands that she would raise her voice to get her to swallow and then she would feel guilty for doing so. As she would say, “I knew it wasn't her fault, but I'm human and was at the end of my tether.” You know what dear lady? We understand! It was suggested to the Macphails that they have a Mickey button, also known as a feeding tube, inserted in Caitlind’s tummy while she was still in relatively good health. After giving it much thought, they decided that it was the best thing to do. The surgery was performed but poor Caitlind didn’t cope well with it and was placed in children’s hospice for about a week. This was so that her and her family could get some rest. Sands would tell me that they were able to stay at the hospice with their daughter and she remarked about what a wonderful place it was. She said that they were all like one big family while staying there with the others.
Along the way, there were fun times mixed with the stressful times. When Caitlind was eleven years old, the family brought her home a black Labrador dog. They thought that doing so would help her stay as mobile as possible for as long as possible. Like with most teenagers, that didn’t work, and the adults ended up walking the dog. It seems like it doesn’t matter what country you are from when it comes to things like that! The dog’s name was Chuckie. They also had a cat named Tommy. Both were named after characters in the Rugrats cartoon, which was Jade’s favorite. Yep, it doesn’t matter where you are from lol. Caitlind was about 15 years old when mobility started to become an issue for her.
Sands said that at times life moved quickly and at other times it dragged on. It would drag for them when they were in the hospital with Caitlind but any other time it sped by so fast. The journey that a family such as the Macphails takes is as none other.
I am drawn to these families because of what they face and what they have to endure. Knowing what the outcome will be and yet doing everything it takes to make life as happy and normal as they can for their child. All in hopes that there will one day be a cure. Sands fought for Caitlind anytime it was required. Colin and Sands showed their daughter the undying love that has been mentioned on a few occasions. Sands would describe Caitlind’s journey in a very succinct fashion, “Caitlind was such a happy little girl and she always stayed our little girl. After all, this illness took away her ability to grow up. She played with her dolls until she could physically play no more. Seizures put a stop to that.” She would tell me that one of the scariest times for them is when Caitlind had more than one seizure. She had over 40 seizure in about 3 hours. On this occasion Caitlind was taken directly to the resuscitation area of the hospital and the Macphails were allowed to go with her. They were told by the doctor that Caitlind may not make it, however Sands knew her baby girl! She told the doctor that Caitlind was not going anywhere. In fact, Caitlind did make it through. Sands told me that this particular doctor was kind of a grumpy guy. She said that it was a great feeling to tell him otherwise and to have it come to pass. Caitlind was in the hospital for ten days before going into the children’s hospice. Sands would stay with her the entire time as she had little trust in others when it came to Caitlind. On the other hand, Sands said that the hospice was an amazing place. Laughter does a person a world of good even in the most stressful of times. Sands had shared a couple of funny stories with me, one of which took place at this time. I'll put it to you in her words, “Because we went to the hospice in a bit of hurry, and with such a long time in the hospital, Colin had forgotten to pack his socks. So while we were at the hospice and Caitlind was resting well, we decided to go to the nearest town to get him some socks and some fresh air. Well can I say I'm not taking him shopping again. We came back with a new lazy boy suite, kitchen table and chairs, and rocking chairs for the garden. Oh, and yes we did get socks lol.” Do you know how they tell you that you should never go grocery shopping when you are hungry? Well I think that the moral to the Macphail’s story here is that you should never go shopping for socks when you are under a lot of stress.
When times are difficult good friends and family are there for you in the biggest way! Such was the case for Sands’ childhood friend, Kim Martin. Kim told me that her and Sands have known each other since they were about 15 years old and they see each other as family. When Sands needed help, Kim stepped up and became Caitlind’s caretaker. You can only imagine that a bond would develop between Kim and Caitlind and I know that such was the case. Kim would would help in Caitlind’s care for almost six years. She was a witness to the resilience of these Batten warriors and everything that they teach us. She also can testify to the type of care that that Colin and Sands had provided Caitlind. Kim said this in her words concerning sweet Caitlind and the Macphails, “She became non-verbal, yet we could still see her personality shine through in the way she laughed and smiled at the world around her. We all tried to do as much as possible with her, as we wanted her to experience as much life as she could. As I said, Sandra and I have been friends for years, and so seeing her, and her family, having to suffer such a great loss is difficult, however, I feel Caitlind couldn't have had a better, more supportive family and we are all lucky to have been blessed with such a genuinely lovely person, even if her time on this earth was over too soon.” Kim was not the only person at the Martin home that would sacrifice her time by giving special attention to Princess Caitlind. There were many occasions in which Kim's daughter Robyn would take time for her. Sand's would tell me that Robyn would spend time with Caitlind at the cinema or she would take her out bowling. This goes to show that family doesn't always share the same bloodline. I have heard it said over and over again. You never get over a loss such as the Macphail family has experienced. You only learn to move forward while living with a wound that never heals completely. I cannot say it enough when I tell you that I have the upmost respect and appreciation for Batten families. That certainly would include Colin, Sands, and big sister Jade. I believe that they can take comfort in the fact that their princess is in a much better place. She is free and experiencing great things. Caitlind also lives on in the sweet memories that she has provided her family and also the things that she taught them about life. Caitlind lives in their hearts and minds as well. She will always be part of the Macphail house and she will always be Sands’ baby girl. I have had it in mind for a long time now to have Princess Caitlind in my blog and I am so happy that she is. In that regard she will always be here as well for as long as this blog exists.
Things don’t always go according to our plans but we overcome as we do the best that we can! Awareness, funding, battle Batten, find a cure! Every one of these stories that I have written has had this kind of test that they go through. I call it the tear test. I feel that if I start to tear up, the story will most certainly touch other people. Trust me when I tell you that, up to this point, they all have passed the test. As with all the little Batten warriors that went before her, Caitlind gave life everything that she had. She fought bravely and in the process she left an indelible mark on everyone that was a part of her life. You know what? These kids have collectively left a mark on my life that will never be erased. I promise! Caitlind’s seizures became almost impossible to control. As her journey was nearing completion, medical staff had to sedate her and keep her on life support with a tube down her throat for four long weeks. Her condition deteriorated to the point that she did not make it. Sweet Caitlind became heaven’s gain on March the 31st of 2016. Sands again talked about her baby girl. She both talked about the disease and its effect, as well as, the impact that her daughter had on people. “Caitlind was walking before the first episode of seizures but by the time we got home she was never able to weight bare again. From then on it was hoist and wheelchairs all the way. This story sounds a bit harrowing at times, and yes it was at times, but the memories I have of Caitlind are amazing ones. She had such a wicked sense of humor. Nothing got Caitlind down for long. I've never known anyone as courageous as Caitlind, or as strong. She never asked why me, never! I asked why my baby so so often. We had some really great times. She would wind her sister up, but in a good way. Especially when she couldn't talk, her sense of humor shone through, right up to the end.”
There are many phrases that I have come up with, over time, to help describe these priceless warriors and the love that exists between them and their families. All throughout the battle, we see a type of resilience displayed by those who battle Batten disease. They continually go through series of setbacks but they usually bounce back and remain happy for as long as the disease permits. When it comes to the love that exists between them and their families, it is one that is undying and a bond that could never be broken is created. The bond never ceases to exist. You wouldn't want it to! These kids have such a profound impact on those that love and care for them. They change people's lives and their presence is felt long after they leave us for heaven. In that way, it's like they stay with us forever. They truly are the most special and the most amazing. They are the reason that I write and my life too, has been changed by them. Once you give a piece of your heart to those who battle, they come close to taking all of it. Caitlind is beautiful, for all of eternity. Thanks for taking the time to read a little bit about her and her family!
Blogger and Advocate
“I still remember the phone call many years ago. My mother answered the phone, and I was sitting on the couch. When I heard the words Battens Disease – my heart sank to my toes. Although I didn’t know much about the disease at that time, I did know it was fatal. I couldn’t come to terms with what it would mean over the next few years, and as I held my daughter (who is only a year younger) I cried and I cried. My heart went out to my cousin Natalie – who I knew would face the next years bravely, but at the same time – It would be the hardest thing she would have to do.”
The above quote was taken from a short article written by Chantelle Mac Isaac of The Gulf News. The Gulf News is a newspaper that is based out of Port Aux Basque, Newfoundland. For her the short article was very personal, and for me, very moving to read.
Why do I continue to tell these stories in my blog? What could possibly be the benefit of taking the time to write about children and young adults whose stories generally end the same way? Batten disease has no cure. Yes, there are some very positive things happening in the community and there is reason for guarded optimism but a cure seems so far away. When a child is diagnosed with the disease, they along with their families, begin a journey that will end with the child gaining their wings.
Although the outcome is generally the same, each story is filled with details that I am moved by. They create these “moments” that I experience with every story that I have done. I was chatting with my friend Pamela about this and I stated that I fall in love, one family at a time. In reply she said that “Yes it will do that to you, one family at a time.” She would also say that “tears are part of our life....this coming from a lady who never shed tears till Casen” (her grandson that was lost to Battens). She added that now, for her, they never stop. That to her is also for every child that has faced the disease.
There is plenty to be concerned with and to be moved by these days. I often spend other parts of my day reading war stories. They are most always filled with sadness, sacrifice, and dying. Why is it that I am so moved by the stories of these children? It’s the details of love and devotion on the part of the families that I find so compelling. It is also knowing what these children go through and how they battle through each day with dignity, honor, and grace. Each day they fight like the little warriors that they are. Often times they do it while keeping a smile on their little faces. Each child and each family create a story in which the details are different. They take place all over the world, under varying conditions and circumstances. These children and young adults are the reason! Telling their stories has become my passion. If you read my blog on a regular basis you might think that I sound like a broken record by repeating thoughts like these. All I can say is to get used to it because I feel as if they are always worth including.
Even from as far away as here in the Pacific Northwest in the United States, Channel-Port Aux Basques appears to be an extremely beautiful place. It is a town that is growing and which has a population of just over 4300 residents. It’s shoreline views are just breathtaking and the channel is home to a port that has provided a means for major shipping to Newfoundland and Labrador since the late 1890s. It is a proud part of the country of Canada, our neighbors to the North. Within the larger story of such a busy place, there are always other stories that for me are no less significant and therefore worth telling. The life of little John Mac Isaac Harvey is one such story.
John was born in Cambridge, Ontario on April 21st of the year 2007. He was a healthy and beautiful baby boy. He had all his little fingers and toes and he was covered in that pink and perfect baby skin. His appearance into this world brought with it a lot smiles from his all family, but especially from his mother Natalie. She had every expectation that John would develop and grow into the little man that she had dreamed of. In fact little John would continue to achieve all his milestones except in the area of his speech. In that area he was a little off but Natalie was assured that John’s speech would come around as he continued to grow.
At eight months of age John would move with his mother back to Newfoundland where she would begin to raise John as a single mother. Life happens and it almost always brings challenges with it. Like any little person John was the center of attention. All the things that he did were just adorable to watch. You could see his inquisitive little mind at work.
As he played, he began to take in all the wonders of his surroundings. There is no doubt that he was filled with questions that began with the words What and Why. His big cousin Chantelle would say this about little John in her article for The Gulf News,
“When John was born he learned to walk, to talk, to play and to laugh just like any other child. You would not know or suspect an underlying disease. Like many children, he would jump into your lap to show off his toys, to be read to, to snuggle and to be tickled.”
It has been a long time but I still remember what it was like to have little people around. With the exception frequent illness’ that they sometimes bring, they are a constant source of joy and amazement. Kids running and being kids in public still bring a smile to my face. I can visualize what it must have been like to have little John in the house. The future looked so bright for him and who would expect anything else?
That was until March 5th of 2010, which was just before his third birthday. That was the day that John had his first Grand Mal seizure. He would go on to have up to 20 in less than a year. His mother, Natalie, would of course seek medical help for getting answers.
The testing on little John would include blood work, an MRI, and a CAT scan. All of the tests results were inconclusive. The neurologist wanted John to be tested for ALS, however Natalie insisted that he be tested for Batten Disease. What? Why Batten Disease?
All the stories that I have done so far have talked about families on a search for answers. Their search would lead them to the shocking revelation that their child had a disease that was fatal and had no cure. The search most often times leads to a misdiagnosis and then to finding out that their child has Batten Disease. It often takes a long time and is agonizing to the parents and family. But this time things were different. You see Natalie knew what Batten Disease was and it was in the back of her mind as being a possibility. Why?
Well you see Batten Disease ran in her ex-mates family. His father's first cousin had two children that had been diagnosed with Battens long before she would get pregnant with John. At that time they were told that in order to pass Battens on they had to be closely related.
Counting thirty years of family history, there have been six confirmed cases of Battens. All who were affected were 3rd and 4th cousins. This is what led Natalie to demand that her son be tested. She had first hand knowledge. There's another little girl in their town that is John's 3rd cousin. She was diagnosed a year ago. All of them had or have CLN2 (Late Infantile Batten Disease).
The MRI and other testing was performed during October of 2010. The means of testing for Batten Disease came in the form of a muscle biopsy. The test results would come back in less than two weeks and they would confirm Natalie’s worst fears. They revealed that little John had Batten Disease. Just like with every other young mother of a Batten child, the date of diagnoses would be firmly placed in her memory forever. That day was March 23, 2011.
Regardless of the fact that Battens was in the back of Natalie’s mind, she was totally in shock and completely devastated upon receiving the news. She knew exactly what the diagnoses meant. Natalie knew the road that they would travel as a family and what the outcome would be for little John. She was thinking at the time that no parent should have to watch their child die a slow painful death. There were so many questions that filled her mind. Natalie had no idea how she could get through it as a single parent. The entire situation brought on feelings of sadness and concern for the future.
Together the family would begin a journey. It would be tragic in a sense but it would also be one that would teach them so many things. Things about love and life. Things like how to serve and care for the most precious of possessions under the most difficult of circumstances. Sacrifice.
Natalie would become a warrior mother. Like every other responsible parent that is called to this type of action. She would stay by John’s side when needed, day and night. Whatever he needed, she was there. The medical community often times brings with it a mixed bag when it comes to physicians and their level of compassion. Natalie would tell me that the neurologist would suggest that John be placed in a home or hospital.
She put it to me like this, “I Won't lie, I flipped out at the doctor as he suggested, and continued to suggest every time we went for appointments, that I should really consider placing John in a home or hospital and leave him there. His reasoning was this was going to be a long battle and I should not put myself or my family though it. Needless to say he found out who I was.” That wasn’t going to happen! Way to go Natalie!!!
She would go on to say this, “The last time he suggested it I totally lost it and said things that I honestly don't remember”. Natalie would tell me that she used some pretty choice words and scared everyone that had accompanied her on that visit. How do you spell warrior mother? The same way you spell Natalie!
While on this journey Natalie would find real love. She would meet a man named Kelly Francis. Most men, I think, would have been afraid of the level of commitment necessary to be in a relationship with Natalie at such a time in her life. To a lot of men, taking on a woman's children in a relationship is a necessary inconvenience. What if one of them is a child with special needs? Even more challenging, what if the child has a terminal disease? Natalie has told me that Kelly not only took on the role of stepfather to little John but that he would do an excellent job of it. I have no doubt that he helped to steady Natalie during a most difficult time. This could say a couple things. One is that Kelly is a very caring and selfless individual. The other is that Natalie was well worth the extra commitment. From what I can see, both statements are true!
The biggest challenges would be met by little John. Like all the other little Batten warriors before him he would show people his strength and resilience throughout his time in the battle. John would first lose his ability to walk unassisted within two months of being diagnosed. He was able to walk with help and crawl and his mom said that he could get around faster than she could. Natalie would tell me that his first six months after the diagnoses were not really that bad. Then in November of 2011 little John would end up getting Kawasaki disease. Kawasaki disease causes inflammation in the walls of medium-sized arteries throughout the body. It primarily affects children. The inflammation tends to affect the coronary arteries, which supply blood to the heart muscle. Natalie almost lost him at that point but amazingly, he recovered. She would put it like this, “He showed everyone just how strong he was. He bounced right back.”
In doing these stories, I am constantly amazed at how tough and resilient these little people are. How they hang in and persevere. They teach us, in their innocence, how to face battles of the most difficult kind. Little John would be no exception as the disease continued to takes it’s course. Soon, he no longer could even walk with assistance but was still able to crawl. “He did amazing for a long time, with the normal ups and downs.”
Natalie would tell me that by April of 2012 his doctors were worried about his weight and the seizures he was having. He was having severe jerking from Myoclonic seizures. Little John could not gain weight. That is when they decided it was time for his g tube. This is a familiar event in the course of the battle that is Battens. She would go on to say that he was still doing great physically and health-wise. Natalie would recall yet another date. On May twelfth of 2012 his tube was put in. Little John, however, was still able to eat orally for about a year after that. At that point, he was starting to have trouble swallowing. The disease continued to take it’s course but John would continue to show everyone what a fighter he was.
By September 2012 John lost most of his ability to speak. Even with this, John continued to laugh until about late 2013 or early 2014. At that point he ceased to do so and that was another very sad event for Natalie and the family. During this time he would begin to lose his eyesight and Natalie noticed that John would begin to get withdrawn.
One of the many things that these little warriors and their family have in common with one another is the amount of equipment needed to care for them. When the battle is over the equipment remains. By the middle of 2013 Natalie was unable, due to his size, to carry John up and down stairs. He became bedridden. As she would put it, “My living room was turned basically into a hospital room for him.”
This is something that I have talked about before. The amount of care that is required and the amount of love that is shown by these young mothers, as well as, other members of the family. You remember that John’s neurologist suggested that he be placed in a home or hospital. I know that in some situations, there may be no choice. However, for Natalie to do that would have completely erased the beautiful picture that is painted by her actions. Undying love demonstrated on a daily basis. John also had a caretaker.
These kids are so precious.They battle and continue to show their tremendous worth. Every bit of care received is so worth it. In her article Chantelle talked about this very thing, “He became bed ridden and in need of home-care support. But he still went to school, gaining friends, many he might not have known about, but they all knew him. Right up until his passing, he knew the voices of those closest to him. You could see the sparkle in his eye when being spoke to, or having his hair played with.”
In the fall of 2013 John had his first round of pneumonia. It was scary and very sad for Natalie and it would not be his last bought with it. John ended up on oxygen permanently in 2014. He would, however, fight and continue to show his resilience. Natalie put it like this, “He was a major fighter. He fought hard and bounced back after every round of pneumonia and hospital stay.” To live the story day in and day out would make it understandable in regards to the level of recall by Natalie. By 2015 John was legally blind in left eye. He could, however, see bright colors and lights in his right eye until the very end.
Some people might raise questions as to why we would include all the details of the disease as it took it’s course with John. Well for starters it helps people to know what a wretched disease Battens is. It also shows what this family went through. Words like “warrior” and “battle” are not used lightly. It is truly a battle and these kids are true warriors. They are precious in God’s mind and they are in mine as well. Awareness, awareness, awareness!
I have three sons and I love each one of them equally. However, my youngest son Benjamin has special needs. He relies on us for help in things like meals and bathing. We spend a lot of time together and therefore the bond is extra strong between us. The bond exists because of the joy that he brings to the house but it is also because of the fact that he needs us for help in the most basic things. I assume that he will be with us for a long time. This raises a question. What is it like to care for a child that has Batten Disease? To help with the most basic needs of life? To do it for the child's very survival knowing what the eventual outcome will be? To pour yourself out for that child and then to have to say goodbye? This while holding them in your arms or being close by their side.Those questions are what drives my passion for these kids and their families. This is why we advocate for a cure and spread awareness. This is also why I want to honor these families with my writing.
According to Natalie, Little John got sicker more often in the last year of his journey. He would always bounce back (warrior) but the disease really began to take it’s toll on his body. He was slowly getting weaker causing more seizures and pain.
I think that for a parent in this situation they have to be completely torn in two. They anguish over the thought of losing the little person that they had poured themselves out for while caring for them. And yet they want to see the suffering come to an end. They want their child to be at peace. They so wished that their child could be whole again but they realize that the journey is almost over.
I asked Natalie if she could tell me about her final time with John. She said that the end was more than difficult for her. The neurologist took little John off of one his meds in order to add three more. One was morphine and the other two were for seizures. Since the drug that was removed was a narcotic, John suffered wicked withdrawals.
The day that they lost John, Natalie took him to the hospital because he had a high fever (41 degrees centigrade) that would not come down. With the fever came convulsions and seizures. Mercifully John’s family doctor managed to make him comfortable after administering three lots of rescue meds and an IV for pain. Natalie said that the testing they did came back normal, however, the fever would not go away.
It was then that Natalie, along with Kelly and John’s doctor, would have to make a decision that no parent should ever have to consider. Natalie wanted what was best for John. Together they decided that it was in John’s best interest that they not resuscitate him in the event he passed. It was time. He had fought this monster so bravely. It was time for him to receive his heavenly reward.
It shouldn’t amaze me but it does that Natalie remembers specific times of the day for certain events. I have left some of them out. At 12:30 pm John’s doctor (Dr. Thomas) and the nurses urged Natalie to go home to shower and get some rest. John’s personal care giver was there and he was being checked on frequently. Natalie had been up for over 36 hours at this point. She agreed to go home and shower. She wanted to be right back but ended up falling asleep for a couple of hours. At 3:23 pm the nurse called and told her that little John’s breathing had changed. Within the 5 minutes that it took Natalie to get back to the hospital John left for heaven.
It bothered Natalie that she wasn’t there at the time, “That was the hardest thing ever. I wanted to be with him when he went. To hold him and let him know it was okay, and that we would be okay”. Natalie told me that she wanted to tell John that she loved him with every beat of her heart!!
You know what Natalie? He knew. He knew how much you love him and he still does. Your voice is the one that comforted him more than any other through his journey. You were there for him like no one else. You are the one that fought for him. Your bond with little John is one that is like none other and one that will never be broken. To little John there is no person more special or more important that his mommy. He knows!
Natalie, Kelly, John’s big sister Caitlyn, family and friends stayed with their little warrior man until 8:30 pm. Then they had to go.
In Natalie’s words, “John taught so many people so many things about themselves. Things about life and love. He was and will always be A HERO to everyone that knew and loved him.”
I believe in heaven. We often speak in metaphor when describing what we think a child is experiencing when they are taken from us. Please have no doubt, they are experiencing things that the human mind cannot comprehend. Things that are wonderful and beyond words. The type of thing we do understand is spoken so eloquently by John’s cousin Chantelle in her article for The Gulf News,
“He is no longer suffering. That part is left now to family and friends as they mourn the loss of a fighter, who persevered beyond his life expectancy. John has taught us many things in life including just how precious it is, and that at any time it could be taken away from us. John, I know you are up there running, laughing and playing, just as you did years ago and that leaves me with a smile.”
Little John’s family includes his mom Natalie and his stepdad Kelly. His big sister is Caitlyn. She is almost 14 and is pretty as can be. She will be tested to see if she is a carrier of Batten Disease when she is 16 years old. John’s littlest sister is Alexandra. She is three and a half and she is cute as a lady bug! Together they ARE John’s family!
This is little John's story. It was written with the help of two cousins, Chantelle and John's mom Natalie. It was, however, mostly written by the life of little John. His life is and will always be the reason this story exists. These stories change us. At least they change me. Little John, you are the story and you are the reason this story exists.
Little Lydia is one of the little sweet people whose journey I am following. Her mom Alicia Headrick is a single mother who is trying to gather funds to help with Lydia's needs. Lydia is such a Princess!! I just wanted to make people aware of the GoFundMe account that her mom set up for her. The amount is not astronomical and can be done if people help. Here is the link:
I hope that you were touched by this blog article. I know that I was.
Blogger and Advocate
Is it them or is it us? Is it the feelings that they produce in us or is it that there is something truly special about them? I think that the answer has to be all of the above. It is them, but they also do something to us. Once you give a little piece of your heart to these kids and their families, they come close to taking all of it. Let it happen!
I would like to welcome to my blog Sanfilippo families, as well as, families in other MPS communities. I am grateful for every opportunity to write about those who battle an MPS disorder. This, of course, alongside their special children. This is a labor of love that is extended to each one of you! Scroll down to see MPS family titles.
Highlighting a previous blog that might interest you:
Forever Royal - The Final Version
One child in a family with a rare disease is a challenge. What if there is two? Heartbreak multiplied you pick up the cause and do your very best to make a difference. That is how a normal family becomes Forever Royal ...
Take the titles listed below and go to month and year listed in the archives.
January 2017 -
*The Story Between The Lines
February 2017 -
*I Know Just Where You Are
*My Kind Of Royalty
March 2017 -
*The Caring Type
*Face to face: A Fairy-tale
April 2017 -
*No Ordinary Love
*A Rare Friendship
May 2017 -
*Tyrell and The Rare Love Story
June 2017 -
*Seth and The Healing
July 2017 -
*Little John and The Reason
*Sands and The Scottish Princess
August 2017 -
*A Rare Kind of Devotion
*The Giggle Box
September 2017 -
*Sweet Montanna and The Status
October 2017 -
*The Blog About My Blog
November 2017 -
*Lydia, I Love You!
*Kayden And The Change In Plans
December 2017 -
*Those That Are Like Them
January 2018 -
*Nora Skye - I Know Just Where You Are
*Brock and The Priceless Memories
*Jamesy Boy and The Treatment
*The Priceless Princess From Beyond
*Forever Royal - Part One
*Forever Royal - Part Two
*That Kind of Love - Conner's Story
*What I See (She is a Butterfly)
*No Longer Alone - Kristiina's Story
*Things We've Talked About - Oscar's Story
*The Reason Why - Hannah's Story
*Kayla's Perfect Princess - Breanna's Story
*Where Do I Go From Here? - An information only blog
*Warriors Unaware - Mia and Kaleb
*Her Little Story
*Someone Like Raelynn
*Forever Royal - The Final Version
*Awfully Beautiful - The Life of Noah and Laine
*A Lifetime of Love - Tegen's Destiny
*Forever Beautiful - Gabi's Story
*The Miracle Baby - Amelia's Story
*Dylan's Life - A Small Town Story
*Princess Grace and the Challenges
*Anything for Tessa - Her Story
*Haley Bug's Battle - A Family Story
*Journey Unexpected - The Rich Family
Sanfilippo Syndrome and other MPS family titles -
*The Beautiful Light of Haidyn Grace
*Any Distance Traveled - Reagan's Story
*The Missing Someone - Kiernan's Story
Archives - Use title listed above with the applicable month and year.
Highlights from the beginning of gregster60.com -
Benjamin's Daddy - March and June of 2016 - Revised May 2017. Titled Benjamin's Daddy Revised.
My Fearless Adventure - April and May of 2016
A Different Type of Warrior - January 2017
Larry - February 2017