Wednesday, March 29, 2017

A Letter From A Muslim Mom to a Catholic Mom About Our Dying Children

November 11, 2008 by  
Filed under NPC Family Stories

Hisan Pakistan

Dear Chris,

I am not a very interesting person…and as of now only a brokenhearted one. I had a very nice childhood, a loving family and fun loving friends, got what I wanted, studied what I wanted or where I wanted. I was taught never to do anything bad with others, only to help the less privileged ones.  I was a top student, had many distinctions during my academic career and somehow or the other became the first on camera female reporter of the state run news television in Pakistan.

I was the youngest one in the media circles to have worked with the decision makers at the highest corridors of power and traveled with my country’s President and the head of the Government, the PM to their visits abroad.  During my international traveling, I met with the world leaders, was praised for my work for being the one who would not compromise on any news story for political expediency and yet was surviving well.  Whenever I used to go out with my family – people would recognize me and ask for my autograph.

But that was not what was the best thing that happened to me…it was Hisan….. who although lost his father very early in his life was a wonderful and delightful child.  Being a single mother, I thought I would give Hisan the best of everything so that no one would think that he did not get what he desired since he had no father.  I wanted so much to give Hisan and education abroad as I had to miss my scholarship when I got married.  I guess it’s the same unfinished agenda on my life that I wanted so much for have Hisan have.  I believe every parent looks towards his or her child in terms of their unfulfilled aspirations.  I had many offers in my hand but I regretted to all as I wanted Hisan to be near to me.  I left the most coveted beat and resigned from my media position when I thought I was missing Hisan on the way.  People thought that I was crazy for doing that…..a professional suicide. As for me, I never once regretted my decision.

You see it is not me who is important in this picture..it is Hisan…the ‘miracle boy’ who had left the most experienced and seasoned doctors in awe owing to his resilience and bravery to fight back this pathetic Niemann Pick Type C disease. Once in a code blue situation, Hisan came back after 45 minutes of CPR, all soaked in a pool of his own blood…and went home to spend some very memorable time with his family.

Hisan was the favorite of all…..be it doctors, nurses, therapists…he would have the pricks done on him without crying…would keep quiet even in extreme pain and his eyes would always exude compassion…tolerance and a certain peacefulness that would put me to shame. When everyone had lost hope Hisan would fight back and lead the doctors to think otherwise. His fighting spirit would prove everyone wrong.

I would become the proud Mom of a very special child.  He would never let me down..never..and it became an altogether different story that my heart would cut in shreds upon every needle that was poked in him.  Never mind missing Stanford.  One after another he lost everything except his beautiful eyes that would tell everything to his Mom and his beautiful spirit.  He died so peacefully.  So becoming of him.  I cry for him each time and I mourn him.  My world is not only blank, it is meaningless as I have lost the will to live anymore.  The only thing matters to me is the long drawn wait that I have to go through to meet him some time when he is happy and without the monster.   You ask for my religion?  For me it is probably not a bad bargain after all to give him back soon and then to have him forever…that’s my belief as a human being and as a Muslim too.
Love to your Princesses!
Nabiha, Pakistan

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Dementia At 7 Years Old

August 12, 2008 by  
Filed under NPC Family Stories

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 . . .’

Ben Scott

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.

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Funded Research Grants

July 23, 2008 by  
Filed under Funded Grants

Childhood Alzheimers, Hempel, Addi and Cassi, Dr. Larry Goldstein, Stem CellsDr. Lawrence Goldstein
Howard Hughes Medical Institute
University of California San Diego

Dr. Goldstein is working to generate true human neuronal models of Niemann Pick Type C in cell culture and plans to analyze neuronal phenotypes by applying many of the assays and insights he has been developing from his studies in Alzheimer’s Disease (e.g, amyloid precursor protein synthesis, transport, proteolysis, JNK activation and phophorylation of tau and other substrates).


Childhood Alzheimers, Hempel, Addi and Cassi, Dr. Larry Goldstein, Stem CellsDr. Christoper P. Austin
National Chemical Genomics Center National Institutes of Health

Dr. Chris Austin is working on a project using highly sophisticated robotic technology to test over 4,000 approved FDA drugs against multiple lines of Niemann Pick Type C skin cells to determine if off label drugs can be used to treat NPC. The use of small molecule tools and screening technologies has traditionally been restricted largely to the private sector.  Dr. Austin has begun an ambitious program in chemical genomics to bring the power of small molecule screening, chemistry and informatics to the elucidation of gene function in the public sector and for rare disease such as Niemann Pick Type C. Co-funded project with the Ara Parseghian Medical Research Foundation.


Dr. Jung Suh
CHORIs Center For Nutrition and Metabolsim
Dr. Jung Suh of Children’s Hospital Oakland Research Institute (CHORI) under the direction of Dr. Bruce Ames is working on a metabolomic analysis of amino acids and related metabolites in Niemann Pick Type C disease. CHORI will conduct mass spectrometric analysis of  plasma, red blood cells, buccal epithelial cells and saliva.  Analysis will involve the application of liquid chromatography-linked tandem mass spectrometric methods developed by Dr. Suh. All analytical sample preparation and mass spectrometric analysis work will be performed in the laboratory of Dr. Ames at CHORI.


Kings College London Dr. David J. Begley
Pharmacology and Therapeutics, Blood Brain Barrier Expert
Kings College London

Dr. David J. Begley is the author of more than 60 key peer-reviewed papers on blood-brain barrier (BBB) function and drug delivery to the central nervous system. Dr. Begley is currently studying hydroxy propel beta cyclodextrin (HPBCD) to determine if this sugar compound crosses the blood brain barrier. Co-funded project with The Hadely Hope Fund.


SOAR-NPC collaborative
Silicon Valley HealthCare Company Helping Patients Start Virtual BioTech Companies
CollabRx builds and operates Virtual Biotechsfor foundations and patients who urgently seek treatments and cures for their diseases.  CollabRx has helped a small group of families with NPC children create SOAR-NPC (Support of Accelerated Research for Niemann-Pick disease Type C).

The SOAR-NPC Virtual Biotech is a cutting edge research collaborative between four leading Niemann Pick Type C researchers and universities including Dr. Daniel Ory of Wasington University in St. Louis, Dr. Francis Platt at Oxford University in England, Dr. Yiannis Ioannou of Mt. Sinai and Dr. Steven Walkley of Albert Einstein College of Medicine.

The SOAR-NPC collaborative is financially supported by The Addi and Cassi Fund, The Hide and Seek Foundation, DART (Dana’s Angel’s Research Trust), and The Hadley Hope Fund.


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A Little Girl From Beirut

July 4, 2008 by  
Filed under NPC Family Stories

sawsan3
Sawsan Moubarak is 8 years old and lives 45 minutes South of Beirut, Lebanon, in a town called Zefta, District, Nabatieh.

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.”

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How Medical Decisions By Doctors Are Leaving Families In Financial Ruin

February 24, 2008 by  
Filed under NPC Family Stories

valentine08

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

 

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