Ben Scott developed dementia at SEVEN
One family reveals their truly heartbreaking story
04th August 2008
Like any proud dad, Andrew Scott loves to take pictures of his son, seven-year-old Ben. There’s Ben running around a field playing catch with his three sisters; Ben screaming with delight on the water ride at an adventure park; Ben sitting on the back step, splashing a bucket of water.
But over the past three months Andrew’s photography has become something of an obsession. He has taken literally hundreds of pictures of Ben, trying to capture every day of his son’s life, part of a project he calls the Book Of Ben.
‘We went away on holiday recently and I took 400 shots, almost all of Ben. Click, click, click – I couldn’t stop,’ says Andrew. ‘It’s his smile I’m trying to get. I want it on film so we never forget . . .’
Fading: Ben Scott, here at the age of about 2, will lose his ability to smile or even recognise his parents
Two months ago Andrew and his wife Lyndsay, who live in Yeovil, Somerset, were told their son has a form of dementia.
At just seven, Ben is facing the kind of harrowing decline we associate with old age. But he’ll be lucky to live to 20.
Already, his speech is slurred, and within a few years he will be unable to walk, speak or recognise those closest to him, trapped in his immobile body, unaware of anything around him.
His parents will only be able to look on as their lively boy slowly but inexorably fades.
Ben’s condition has been caused by Niemann-Pick, a rare genetic disorder which affects only 500 children worldwide. It occurs as a result of the build-up of cholesterol in all the body’s organs, including the brain, effectively stopping them from performing their job, causing a progressive loss of mental faculties as well as problems with movement.
‘I don’t know which is harder, that Ben is going to die, or that it will get to the stage where Ben won’t know who I am,’ says Lyndsay, 30, a full-time mother.
‘I don’t want to think about the day that his eyes stop shining; the day I’m caring for Ben – cuddling, feeding and washing him – but the Ben we know isn’t in there any more. I dread the day he won’t smile at us.’
What makes the disease even more cruel is that the pace of deterioration is so unpredictable.
‘We know Ben will lose skills like eating, talking and smiling, but we don’t know when,’ she says. ‘It could be in six months or six years.’
But already over the past year the changes have begun to speed up, explains Andrew, 33, a sales manager.
‘Last summer Ben was able to go to the toilet; he is now incontinent. Two years ago he could run around with his sisters; now he needs the help of a walking frame. He is less responsive than he was. He can still communicate but his speech is slurred.’
Cruel family ties
To make matters worse, the genetic condition might also affect their daughter Lucy, who is 18 months younger than Ben.
Doctors have not yet been able to pinpoint the exact form of gene mutation Ben has. Until they do, they cannot test Lucy – it is a case of watch and wait.
‘At first we thought she’d be fine because she’s older than Ben was when he first developed symptoms, but now we’ve been told it can strike at different ages and she might not have symptoms until she is in her teens,’ says Lyndsay. ‘I’m trying not to think about it.’
Lyndsay had known from early on that there was something wrong with Ben (she has two other daughters, Gemma, 12, and Charlotte, ten, from a previous marriage).
‘Something wasn’t quite as it should be,’ she says. ‘I didn’t know what it was, but as a baby he didn’t feed well, wouldn’t put on weight but had a bloated tummy and was jaundiced. Whenever I mentioned my concerns to a doctor they’d just say: “Oh, it’s a boy thing, he’ll grow out of it.” ‘
‘We were seen as panicky parents,’ adds Andrew. ‘But we were sure something was wrong.
When it came to walking he took his first steps at 17 months, but by two-and-a-half he’d constantly fall over, as if tripping over something that wasn’t there. He always had bruises and cut knees. Again, the doctor just said he was clumsy and generally delayed.’
‘His speech was also slow,’ says Lyndsay. ‘By the time he started primary school, Ben could communicate and put three or four words together but they were quite slurred. His fine motor skills were also very poor. He couldn’t hold pencils.’
Ben’s teachers expressed concern, so the Scotts contacted their local child development centre. After an eight-month wait, they saw an occupational therapist, who referred Ben, then five, to a paediatrician.
When the paediatrician saw Ben seven months later, again the Scotts were told there was nothing to be concerned about, that his development was just a little bit delayed.
Ben’s unforeseen decline
But over the next year Ben fell more and more behind at school. At six, when other kids were reading and writing, Ben still couldn’t hold a pen because his fine motor skills were so poor and he could only recognise the letters B and E. He was also losing his ability to run and had become incontinent.
‘The incontinence was the last straw,’ says Lyndsay. ‘We knew that wasn’t right. Through a fantastic support group called Special Kids, I was advised to get Ben checked out by a neurologist. The paediatrician said there was no need, but we insisted.’
On April 29, Ben met Dr Philip Jardine at Bristol Children’s Hospital and was admitted for scores of tests including an MRI scan, and bone marrow, muscle and skin biopsies. Two weeks later Dr Jardine rang with the results.
‘He said he couldn’t talk over the phone but that we should come and see him as soon as possible,’ says Andrew.
‘The first appointment was short. Dr Jardine explained the tests showed Ben had deposits of cholesterol around his organs caused by Niemann-Pick. Then he said: “Ben will die from this between the ages of 15 and 20.”
‘We were speechless. Finally I asked him if he was sure and he said 99.99 per cent so.’
‘He handed Lyndsay some tissues and I asked for some, too,’ recalls Andrew. ‘We were numb and sat in the car on the way home without talking. How could our seven-year-old have dementia? That’s what old people get.’
There are three forms of Niemann-Pick Disease: Type A, B and C. Each affects the way the body breaks down fat and are caused by genetic mutations passed down from the child’s parents, who must both be carriers of the defective gene but may have no symptoms themselves.
Type A rapidly affects the brain and usually causes death before the age of three. Type B affects the liver, spleen and respiratory system and sufferers can survive into adolescence or adulthood.
Type C, which Ben has, is the most common. Because of a faulty gene, the body doesn’t produce the enzyme needed to break down cholesterol.
The build-up in the organs, including the brain, liver and spleen, causes a massive deterioration, leading to mental and physical problems (unlike adult dementia sufferers, whose problems are largely mental).
Symptoms set in
The Scotts have done all they can to find out more about the condition and what the future holds for Ben. But because it is so rare, it’s hard to gather information.
‘The doctors just don’t know how bad he is,’ says Andrew. ‘Some children develop it at two and live past 15, some get symptoms at 18 and live to 30, some die by the age of four.’
But the condition has a certain pattern – the cholesterol around the brain starts to disrupt the signals to do with movement, affecting coordination.
Ben already falls over a lot and finds it hard to walk. Eventually, he won’t be able to swallow properly and food will get into his lungs, raising the risk of pneumonia, so he will need to be fed through a tube. In some cases, the cholesterol around the liver can cause liver disease.
His memory will start to fade as his brain function deteriorates. Then he will suddenly lose the ability to walk, talk and feed himself. In the final stages the sufferer is immobile and unaware of the world around them.
As with adult dementia, there are currently trials into drugs that might help symptoms, but there is no cure.
‘Right now his symptoms are a bit like he’s drunk a bottle of vodka,’ says Andrew. ‘It’s quite hard work for him to do anything, even very small things. A small walk takes a lot out of him.
‘His memory about people and things is still pretty good. He knows exactly who we are and knows we are going on holiday soon, so every morning he asks: “Are we camping today?”
‘But eating is the area we really need to watch at the moment. He puts food in his mouth but he forgets to chew. We have to rub his mouth to remind him.
‘He also has learning difficulties; he can count to five, or ten on a really good day, but those were things he could do at three or four. And his mobility is much, much worse. When he stands up, we need to remind him to move one foot forward in front of the other.’
The only blessing
The only blessing in all this is that Ben doesn’t understand what’s going on – because of the disease, intellectually he’s never advanced beyond the age of four, and he now attends a school for children with special needs.
But he is a happy child.
‘Most of the time Ben is a very content little boy,’ says Lyndsay. ‘But sometimes he gets frustrated when he can’t do things he used to do. He loves building towers out of wooden blocks, but as he gets older and his skills become less, he’s finding it harder and harder to build the towers; they keep falling down.
‘Other times he’s like a normal little boy. We take him to an adventure park where there’s a log flume water ride and he loves it. He really loves the thrill, the adrenaline. His face lights up just like any other seven-year-old. It’s hard. The other day I was in the supermarket and I had tears streaming down my face. Some days it’s overwhelming.
‘Initially I blamed myself, especially because it was genetic. And I’m trying to come to terms with the fact that I’ll outlive my child. It feels surreal. I have to keep reminding myself, that this is happening to us. It’s like I’m talking about someone else’s life.’
The only practical thing the Scott family can do is raise awareness of the condition so that other families don’t have to wait years for a diagnosis.
‘Having a diagnosis has made a huge difference, it’s meant we can get him all the help he needs,’ says Lyndsay.
The Scotts still get upset thinking about the days he was in a mainstream school, sitting in dirty nappies, unable to take part in what was going on around him. These days they do all they can to make the best of every day.
‘I find myself constantly looking at his face when he smiles, so I can remember him that way,’ says – Lyndsay.
‘As a mum, you could be up all night with your six-month-old, but one smile from your baby and everything is forgiven. I want to remember every one of Ben’s smiles. I want to remember that in his head, Ben is happy. Today is the best he is going to be, and we have to love every minute. Every day is about making memories of the time we have.’
And with that, Andrew strokes his darling boy’s legs and takes another photograph.
• For more information contact the Niemann-Pick Support Group (UK), 0191 415 0693 www.niemannpick.org.uk.
Her father, Jason, is an inspiration for all parents, especially me. His wife gave birth to Sawsan and passed away in childbirth and he takes care of Sawsan and two other children; a girl, 13, and a boy, 10. “After Sawsan showed symptoms of NPC, you can imagine how my life turned around, especially with her mother not here. Words cannot describe the agony and sadness I am going through,” he told me.
Sawsan is now on Keppra 500 twice a day. She has many, “narcolepsies and cataplexies: 5 to 6 times a day. And seizures too, even with the Keppra, she has them once a week.”
This is a medical story that is happening all over America – a story about doctors making medical decisions and not listening to patients (in this case an astute Mom). This is a story that is all too familiar to Niemann Pick Type C families — misdiagnosis for months or even years when symptoms seem to be clear cut. The Bouchard family of Frisco, Texas, is now stuck with a $40,000 dollar medical bill which is due to a breakdown in our medical system. This is a story that medical professionals should read and should also be put in front of Congress and the President. Twins Cathryn and Corynne have since died. Rest in peace little "angel twins!"
If Coping With Two Terminally Ill Children Is Not Stressful Enough (by Kristen Bouchard)
Our beautiful identical twin girls, Cathryn and Corynne (who were a surprise pregnancy), were born on September 7, 2006. Like many other twins, they were born prematurely at 34 weeks. They had no major complications at birth, but spent 2 weeks in the NICU as “feeder-growers” to work on feeding and gaining some weight. They were quite jaundiced at birth and spent a few days in the “tanning bed” under the bili lights. I remember one of the nurses sort of asking herself out loud, “Why are they so jaundiced?” I thought it an odd question since so many babies are born with jaundice, and especially premature babies. I didn’t think much of it at the time.
Before leaving the hospital, the doctors told me that we would need to follow up with the pediatrician about one of Cathryn’s bilirubin levels – it was her conjugated bilirubin level that was still high. They thought it was sort of strange, but didn’t worry about it too much at the time, and neither did I. Little did I know that what seemed like minor oddities at the time were actually signs that something was terribly wrong with my children.
In following up with blood work, the bilirubin level that was high got back to a normal level; however, one of Cathryn’s liver enzymes, the AST level, showed up elevated in the blood work. My pediatrician said that we should recheck it in another month. Two more months of rechecking brought the same result: an elevated AST level. At this point we went to see a gastroenterologist. He looked at Cathryn and evaluated her, and also sort of looked Corynne over, and thought that they seemed fine – we would recheck the bloodwork in 6-8 weeks. He did tell me that they both had an enlarged liver and spleen. I thought to myself – whoa – that doesn’t sound good. I’m going to have to do some research on that.
Being someone who worked as a research scientist for 2 years, I know how to find good information from reputable sites on the Internet. I typed in “enlarged liver and enlarged spleen” on a Yahoo search. I didn’t like what I found. One of the first things that came up was a rare disease called Niemann-Pick disease – a fatal neurological disease. I read some of the symptoms and signs of the disease, and I freaked out. I really felt like this was a strong possibility for my twins. After talking to my pediatrician about what I had found, she encouraged me not to worry about that yet, but she agreed that it was a possibility.
During those next couple of months, I really started to notice some delays in what the girls were doing, or not doing, really. It seemed that it was taking them longer to learn to sit up and to roll over, unlike my son who had done these things quite a bit earlier. They also were not gaining weight at the same rate they had been. Corynne, my twin B, seemed to be stuck at the same weight for a couple of months. It was hard to determine if these delays were just due to their prematurity, or something else. I tried to keep the thoughts about Niemann Pick in the back of my mind.
I took the girls back to the GI doctor because of their failure to gain weight. At this point he agreed that something was clearly not right, and ordered a huge panel of tests for metabolic disorders, as well as hepatitis and even cystic fibrosis. Everything came back normal, except that Corynne’s AST was also high. I didn’t know what to think at this point – I was relieved that we hadn’t found anything, but also more worried, because we still didn’t know what was wrong. I did more research into Niemann Pick Type C, and really started to feel like this was a strong possibility for my twins. It had to be something genetic – it just had to be – otherwise, why would they both be affected the same way?
I mentioned my fears of a metabolic storage disease to the GI doctor, and he said he felt like they would have been so much sicker if that were the case. Again, I felt somewhat relieved that my doctors were telling me they didn’t think that our kids had a fatal disease, but at the same time, mother’s intuition was telling me something different.
The girls turned 1 year old. They still weren’t talking or babbling a lot, and neither of them was interested in putting weight on her feet. I thought of how my son was very close to walking on his own by this age, and how he could even say several words. By this time, my pediatrician had set up an appointment for us with a metabolics/genetics clinic at Children’s Medical Center in Dallas. It was scheduled for Tuesday, September 25th. We would never make it to that appointment.
On Friday, September 21st, I took Corynne to see our pediatrician. She had been breathing somewhat fast for maybe a week or so, and in that week had started refusing to eat. She cried a lot, and didn’t sleep well at night at all. The pediatrician sent us over to the hospital for a chest x-ray. I didn’t even make it back home before the doctor called me on my cell phone. She asked me if I was still near the hospital. I told her that I had made it back to my area and needed to pick up my son from preschool. She told me that the radiologist had called her about Corynne’s x-ray, and said that it looked really bad – like she had some kind of pneumonia. I was dumbfounded – how could the kid have pneumonia without a fever or coughing at all? This was weird. Since I couldn’t come right back to the hospital, the doctor told me she was going to call a pulmonologist and have him look at the x-ray. Within the next hour she called me again and told me I should bring Corynne to the hospital as soon as I could. I packed a few things, loaded all 4 of my kids in the car, and went to the hospital.
Upon arriving there, Corynne’s oxygen saturation level was found to be 69 – typically not high enough to sustain life. The nurses and doctor were amazed at how her body was compensating for the problems she was having. It became apparent that Corynne was going to need to be in a Pediatric ICU. We took her to a different hospital in an ambulance. My husband and Cathryn followed in the car. During the ambulance ride, my mind was racing. I was thinking back to all the articles and information I had read about Niemann-Pick disease, and how they said that the substances that can’t be metabolized are stored in the liver, spleen, lungs, and eventually, the brain. The part that stuck with me was LUNGS. I just knew that this had to be the diagnosis: now that her lungs were involved, it seemed like a “no-brainer.”
After arriving at the PICU, I had to recount the twins’ entire medical history to multiple doctors – the PICU doctors, the infectious disease specialists, and finally the geneticist. I expressed my concern to each one of them that I felt like they most likely had some type of metabolic storage disease, and that Niemann-Pick disease was one I felt strongly about from what I had read. I remember the geneticist saying to me, “Oh, your kids don’t look Niemann-Pickish to me.” I felt so relieved – I certainly didn’t want this to be the diagnosis – yet so confused. If it wasn’t that, then what in the world was wrong with my babies??
For almost a week, Corynne underwent countless procedures and tests to try to determine what was wrong with her. After one procedure she was put on a ventilator because the trauma of what she was going through was making her worse. After about 5 days of not being able to figure out what was wrong, the doctors came to us and said they needed to do a liver and lung biopsy to determine what was wrong. Again, I asked every doctor I spoke to about the possibility of a metabolic storage disease. Every one of them told me. “No, your kids don’t really fit that very well. They don’t have neurological problems.” I cannot express how frustrated I was with this answer. What were they reading that I wasn’t reading?? Everything I read seemed to fit my kids perfectly, especially now that the lungs were involved. But, we needed to get a diagnosis. Fine, let’s do the biopsies.
I think it was the next day when the geneticist came to Corynne’s hospital room. She said that she had just talked to the pathologist, and that he had found “foam cells” in Corynne’s lungs. I didn’t need to hear anymore. At that point, I knew that mother’s intuition and internet research had been right all along. My kids were going to die. Not just one, but both of my beautiful, sweet babies. I wondered if Corynne would ever make it out of the hospital – if she would ever see her home and her siblings again. The geneticist told me she was going to send out a test for Niemann-Pick disease. I wanted so badly to say “I told you so.” She felt like it was probably Type A because it was showing up in infancy. Again, I was baffled. I remembered what I had read about type A, and didn’t think that described my kids like the other information I had read. But, we’ll just see what the tests say. She was also going to send out a test for Niemann-Pick type C, but that one would take 6-8 weeks before we would know anything.
The next week, the geneticist came and told me that Corynne’s test for type A had come back positive. My husband and I were devastated. Though it was somewhat expected, the finality of a diagnosis like that is difficult to cope with. Children with NPA typically don’t live past age 2 or 3. We sent off a test for Cathryn for Niemann-Pick type A also. I started calling specialists all over the country to find out as much as I could about this disease and potential treatments. The more I heard about type A, the more I felt like this was NOT what my kids had. Over the course of the next week, one particular doctor who believed strongly that Corynne could get better worked on weaning her off the ventilator and the strong oxygen support that she was on. Steroids seemed to be helping her lungs’ ability to transfer oxygen from her lungs to her blood. By the end of that week, she was off the ventilator and her oxygen saturation was slowly making an upward trend.
I could tell Corynne was starting to feel better, and I knew that if she were going to get much better, she needed to be at home. She was terrified in the hospital. I basically told the doctors that I was going to take her home on that Friday. I knew she would need a lot of attention at home, and that she would still have to be on oxygen, but I wanted her home. I wanted our family together again. Our family had not been together at the same time for 3 weeks. We took Corynne home that Friday afternoon. It was October 12th. Within a week she did not need her feeding tube anymore – she was willing to eat again. Sometime in that next week or so I got a call from the geneticist. She had Cathryn’s test results. Her test for Niemann-Pick type A came back normal. I almost fell over. Well, what does that mean? She told me that the lab manager thought that Corynne’s was probably normal as well, and the test had just been wrong.
I was thrown for a loop. Clearly, my kids had some type of metabolic storage disease – the foam cells in the lungs made that apparent. But I was filled with hope again – maybe it’s something else – maybe there will be a cure for it.The geneticist told me that there was still the possibility of Niemann-Pick disease type C, but that test was still pending and would take more time. Of course I started doing some research on type C and realized it was most likely the correct diagnosis. One article I read described the early lung failure that Corynne was experiencing, as well as the developmental delays, failure to thrive, and the enlarged liver and spleen.
We waited and waited and waited. On December 11th, the geneticist called me. She had the results. It was type Niemann Pick Type C. Though it was exactly what I expected at this point, I was completely devastated and began the grieving process all over again.
Over the past few months we have explored potential treatment options for our girls, but there isn’t much to be found. One experimental drug that was designed to treat a different disease seems to help prolong the lives of patients with NPC. We have started working with physical and occupational therapy, speech therapy, and a nutritionist. These wonderful people are part of a great support system that will do just that – support our girls through the course of this terrible disease that will take their lives. It won’t cure them, but will perhaps give them a better quality of life for the time they do have. Time – how precious it is. It’s all we have, and we can’t get it back. So at our house, we do what we can to enjoy every day. We don’t think too much about tomorrow and what it might bring, except to dream of a tomorrow where no parent has to wake up and face the fact that their child (or children in many cases) has a fatal disease called NPC for which there is no cure. That will be a great day.
If coping with having two terminally ill children is not stressful enough, we are constantly battling our insurance company or doctors about medical bills. Corynne’s 3-week stay in the hospital proved to be extremely expensive. While the hospital was in-network, all of the doctors who saw her and the surgeons who did those biopsies were out-of-network. We did not find out about this until we brought Corynne home. The doctors who saw her on a daily basis billed $2,058 per day, for 21 days. The surgeon billed $3,000 per cut. My insurance company paid small amounts, but we were left with a bill around $40,000. I was furious. If the doctors had listened to me in the first place and tested for the disease I suggested, the biopsies would not have been necessary. If one of the social workers or hospital billing staff had brought it to my attention that all of the doctors were out of network, we might have been able to work something out before it was too late.
I was able to appeal the insurance decision and they paid more, but they are still leaving me with a hefty sum. I find this totally inappropriate, and it causes us undue stress on top of the devastating situation we face daily. If a hospital is in-network, then the people who work there should be as well. If insurance companies would stop causing people so much stress about their medical bills, the population would be a lot healthier. I’m pretty sure that would cut down on insurance companies’ costs. I know my story is not the only one like this, that that just infuriates me more.
A lot of people ask me how I keep going – how I’m not totally falling apart. I feel like God is giving me the strength to do this – he chose me and my husband to be the girls’ parents because he knew we would take the best care of them no matter what. So that’s what we do, and we take it one day at a time. I am so thankful for my children, and I wouldn’t trade them for anything. I just wish there were more I could do for them – but that’s why we will keep fighting for a cure, and we won’t stop until we find one.
- Kristen Bouchard
Niemann Pick Type C is generally referred to as "Childhood Alzheimer’s" disease but apparently in rare cases there is adult onset NPC. Yesterday, I exchanged emails and phone calls with Jennifer Field, a 34 year old former nurse and happily married Mom with four beautiful children, who was diagnosed in November 2007 with NPC.
This whole Niemann Pick Type C nightmare is getting more insane by the minute! I am now convinced that NPC and Alzheimer’s are closely related and NPC is not as rare as everyone seems to think it is — it must be going misdiagnosed. Over the past two years, Jennifer was misdiagnosed with Lupus, MS, and even cancer and now she is facing the biggest battle of her life: the war on Niemann Pick Type C disease. Please take a moment read Jennifer’s story.
Jennifer Field: A Mom’s personal battle with NPC:
I have not yet met any other adults with NPC disease. I can’t imagine having to watch one of my children go through this illness. I am, however, having a hard time looking at my family knowing that it is likely that I will not see proms or my grandchildren. My husband is having a hard time trying to care for me and the kids while trying to cope with his own feelings. Over the last 18 months or so I have gotten ill enough that I am no longer able to work. I seem to have serious memory problems, twitching, short term memory issues, rashes, eye movement problems, upper respiratory difficulty that never goes away and horrible migraines. The migraines are the worst. Nothing helps. I have tried with my doctor several medications and narcotics, and nothing works!
I also don’t sleep correctly anymore. It seems that my brain just can’t shut down. I will go 3 or 4 days without sleeping at all, then spend 2 days sleeping. I guess my world is just unpredictable now. I was told by Cedars Sinai that there are no research studies available right now, they just tell me that I need palliative care. I would love to participate in anything that will prolong my life. I was diagnosed after they found sea-blue histiocytosis in my bone marrow. I also have the normal (for NPC) calcification "sprinkling" in my brain along with larger calcifications in my parietal, temporal, and occipital lobes. I have some frontal lobe thickening, and they said that those results were conclusive, but that they suggest the advanced stages of the disease.
My speech is slurred when I am cold, drowsy, or sometimes for no real reason at all. The migraines are matched with the feeling that my head is shaking. Sometimes I can’t keep my eyes open because it looks like an earthquake is happening all around me. I have fluid retention issues, and my gait is different some days. Other days I am free from any symptoms at all, but mostly I have symptoms every day. Starting IV’s and being able to handle patients is not really feasible anymore due to hand tremors. I am losing my drug knowledge and I don’t really trust what I know to work in such an acute setting anymore.
I am ready and willing to fight!
An email popped into my inbox from my new friend, Danielle LaVerde, who has a sweet little girl named Gabrielle who has Niemann Pick Type C like Addi and Cassi. Danielle lives in Florida and like me she is doing everything possible to save Gabrielle from this horrible disease. Her letter makes me cry and cry and cry. Someone else is going through the same nightmare. I am putting together a donations package so we can raise money for Niemann Pick Type C research and I am asking scientists, researchers and parents of NPC children for submissions to help us raise awareness and money. Danielle submitted Gabrielle’s story and I ask that you to take a moment out of your busy day to read it. If you have not made a donation, please consider making one for our children. Even the smallest amount helps. And please help us get the word out about our kids. We are Mom’s on a Mission – curing Niemann Pick Type C!
My Dreams For My Daughter Gabrielle
All I ever wanted to be was a Mom. From an early age, I knew that was what I wanted to be when I grew up. On career days at school, while my friends aspired to be teachers, nurses, lawyers, and even astronauts, I wanted to have children and stay at home to raise them – - four of them to be exact. My goal was to raise, kind, secure, loving children. I wanted to know them and I wanted them to know me. I wanted to talk with them and watch them play baseball and dance. I wanted to laugh with them, read to them, dance with them, and have dinner each night while hearing about their day at school.
Motherhood did not come easy, though. After over five and a half years of trying to conceive, including a positive pregnancy test discovered to be false the day after my husband’s father suddenly died, medication, surgery, and swallowing 40 herbs a day, I finally found myself pregnant. My husband and I were in complete disbelief. We were overjoyed that we would finally have the child that we’d waited so long for. We had already loved this child for years and now she was real. We thought we had survived the most horrible event of our lives.
After a relatively uneventful pregnancy and delivery, we had our precious baby – Gabrielle. We gave her that name because she was our beloved angel, new and fresh from God’s very hands. She was a miracle, prayed into existence. She was a tiny little thing, only 5 pounds, 15 ounces and 19 inches long. The first eighteen months or so of her life were wonderful. She was a happy, sweet, smiling little girl, with big, sparkling eyes and she had the best belly laugh we’d ever heard. She was everything we’d ever dreamed of and more. She developed normally and hit her milestones on time, including her first words. She pointed at everything asking, “Watsat?” “Watsat?” She started walking later than most, but was toddling around by 15 months, well within the standard time frame.
Somewhere around 18 months we began to notice that she was not quite keeping up with other kids her age. They were picking up new words, she was not. They were growing more stable on their feet, she was not. By the time her second birthday rolled around, we knew something was wrong. Her pediatrician, however, thought she was “perfect” and that she would “catch up” by the time she turned three.
By her third birthday, it was even clearer to us that she was having difficulty with her speech and gait. It was obvious that her balance and coordination were not what they should be. Finally receiving a referral from her pediatrician, we took her for a complete evaluation. Her fine and gross motor skills, as well as her speech, sight, and hearing were all tested and it was determined that she was “developmentally delayed”. Mild Cerebral Palsy was even mentioned as a possibility. The recommendation was that she begin classes as well as speech, physical, and occupational therapy at the local elementary school.
Months went by and it was apparent to us that while she greatly enjoyed school, the classes and many therapies were not helping her progress. By her fourth birthday, we were very frustrated with her pediatrician. It was plain that Gabrielle was having a medical problem and that her doctor was not going to help us determine what was wrong. She must have felt we were being obsessive, over-protective, first time parents making something out of nothing. Her four year check up with a new pediatrician brought us new information and new hope for an answer. She told us several things about Gabrielle that her previous doctor had never shared with us. For instance, that she has connective tissue issues – - hyperflexible hip joints and nearly flat feet. The doctor did not have any idea what was wrong, but agreed that it was unmistakable she had a medical problem and recommended that we immediately schedule appointments with a Behavioral Pediatrician, a Geneticist, and a Neurologist to aid with diagnosis.
The Behavioral Pediatrician worked with us for about one year, offering helpful suggestions and testing her for conditions she knew Gabrielle didn’t have simply to rule them out, such as Autism. In the meantime, we also worked with a Geneticist and a Neurologist. For two years, Gabrielle was subjected to countless blood tests. I used to count how many vials of blood were taken from her, but stopped around 50. Holding down my terrified, screaming child along with 4-5 other people so a nurse could draw blood was one of the hardest things I’ve ever had to do. I would beg God to make it stop; crying as hard as she was by the time it was over. She also endured EEG’s, MRI’s and CT scans. All tests returned normal with the exception of the EEG’s which showed that she was having absence seizures while she slept. Four attempts at different seizure medications failed. One in particular had horrible side effects – - by the third day on the medication, she could no longer put a fork to her mouth and by the fourth day, she could not sit up. All medications were stopped as her doctor felt her system was just too sensitive to tolerate any anti-seizure medication.
We had consulted with literally the best doctors in Orlando, yet no one knew what was wrong. We took her to Jacksonville to meet with a Neuro-Muscularist as her Geneticist was convinced she had a mitochondrial disorder. After waiting weeks to see him and spending four hours at his office, we left with another list of tests. With four more months of testing under out belts, we returned to the Neuro-Muscularist with results in hand – - all negative. The doctor’s response was that he was very glad to see she didn’t have any of those conditions … and that he would see us in a year. We were astonished and shocked that he could offer us nothing else. After pressing him for help, he finally offered that if she were his child, he would take her to the Kennedy-Krieger Institute at Johns Hopkins.
Developmentally, Gabrielle was continuing to decline. Walking, coloring, running, playing, skipping, riding a bike, and jumping were impossibilities for her. Emotionally she became increasingly frustrated, shaking her fists and gritting her teeth while growling in protest at her own body. She knew what she wanted and she knew her body would not cooperate with her mind to achieve it. She understood everything that was said to her, responding appropriately if asked to choose between two items or pick something up, and laughing at what she thought was funny. There were times she would sit next to us on the couch and open her mouth to speak; only nothing would come out. She’d try and try, but simply could not talk. It was heartbreaking. My husband and I cried so many tears. The pain and heartache of doing everything you can think of to help your child and come away without an answer or any improvement was more than we could bear.
We felt helpless as we watched our beloved little angel fall further behind and loose the few skills she did have. She used to count to 13. She used to fill in the next letter when singing her a-b-c’s, and the next word when reading familiar books. She had looked at everything with a sparkle in her eyes. She always appeared to be pondering something very important … the wheels in her head were always turning. As my friends talked, as all parents do, about how well their kids were doing, learning new things on a daily basis and relaying funny stories about things their kids said and did, my precious child was slipping further and further away. And nothing we did seemed to make any difference.
We applied to and were accepted by Kennedy-Krieger Institute. By then, Gabrielle had stopped talking entirely and all we had was a 3-inch thick notebook full of test results that told us every illness, ailment, syndrome, disorder, and disease she didn’t have. Not knowing whether to have her seen by the Movement Disorders Department or the Neurology Department, they scheduled her with both. We went to Baltimore in early 2007. By now, she was 5 years old and we were no further ahead than when we’d begun. Once again we left with a list of suggested tests – - and a warning that it was their opinion that she had a progressive, degenerative disease. Devastation does not begin to touch how we felt. It was huge blow that we were not prepared for. We tried to convince ourselves that they were wrong. This could not happen to our precious girl. After all we went through simply to have her, this could not be her fate. It just wouldn’t be fair.
After a few more tests, and a consultation with another specialist in Brandon, Florida, we moved forward with the skin biopsy necessary to determine whether or not she indeed had Niemann-Pick. The six week wait was relatively painless. Two of her doctors (including the ordering Geneticist) assured us that this was just another test they were performing in order to rule out yet another disease. No one seemed to think this test was going to be any different than all the others. But this one was. This was the answer we’d been searching four years to find … but this was not the answer anyone would ever want. Our daughter’s answer was a death sentence.
Heart-shattering, soul-crushing pain was all we knew at that point. We felt completely helpless. I found myself begging God to take her quickly. I couldn’t stand the thought of watching her slowly disappear … watching her suffer … watching as she looked to me for relief and being powerless to give it to her … watching her endure the end of her life before she had any real chance to live. My dreams of happiness for her were gone. Her whole life she would only know frustration, disappointment, grief, pain, and despair.
Hope was nowhere in sight. We were destroyed. But my friends, family, and coworkers offered a sliver of hope when they ran to my side. They cried with me, held my hand, and let me borrow their strength. They promised to stay with me through whatever came our way. Gabrielle’s doctor offered us another sliver of hope when he suggested several treatment options. So we decided to fight with all we have. We had been fighting for her all her life and we were not about to stop.
My dreams for my daughter have changed. Now my dream is that she will be able to tell us her wants … what she needs … what she feels. My dream is that she will be able to walk wherever she wants without help. My dream is that she will be able to ride a bike. My dream is that she will not die.
The four children I wanted will never happen. I feel I don’t get the choice of whether or not to have more children. I could never take the chance of giving this disease to another child. All I have is my sweet Gabrielle, who still has big, sparkling eyes and the best belly laugh I’ve ever heard.