Our Son Has A Rare Brain Disease – But We Are Determined To Help Him Live Life To The Full

Allyson and her family were devastated to learn her son has a rare neurological condition that affects just a handful of people worldwide.


Our son, Sam, was a completely normal child for the first two years of his life. Sure, he tended to trip and fall over quite a lot, but didn’t most small kids? It certainly wasn’t something we thought was a problem.

Then, on February 23, 2013, Sam was playing on our bed when he suddenly fell off it. He didn’t cry. Instead he was limp and unresponsive – as though he’d passed out. Then, after about 30 seconds, he opened his eyes and began to scream.

We calmed him down and checked him over. He didn’t seem to be in any pain, but he couldn’t stand up – he just collapsed, unable to bear his own weight. Worried now, we called 999 – the UK equivalent of 911. (We were living near London at the time.)

The EMT called an ambulance to take us to hospital

The Emergency Medical Technician (EMT) who came to our home couldn’t find anything wrong – until we tried to get Sam to stand again. He just couldn’t do it. The EMT called an ambulance to take us to hospital.

Some of Sam’s strength returned when we there, although he was still unable to stand or walk alone. It never occurred to me that this might be something serious – after all, just a few hours earlier, Sam had been a perfectly healthy two-year-old. The emergency room doctor said he thought it was a hip sprain. We should go home and just wait a few weeks for it to heal. I was confused as Sam didn’t appear to have any pain, but then I wasn’t a doctor. I had to trust his professional opinion.

After a week Sam could walk and stand, although not like he did before. His legs crossed when he walked, and one dragged behind and caused him to fall. After another week, when he still hadn’t recovered, I took him back to the doctor. Once more we were sent home. These things can take time, we were told. This happened a couple of times until, around five weeks after the initial fall, my husband came with us. He insisted they run some tests and, finally, the doctor agreed to refer Sam to a pediatrician.

That was the start of the worst few weeks of our lives

For those unfamiliar with the UK healthcare system, it works a bit like a Health Maintenance Organization (HMO). You have to go through your primary care doctor – your GP, or general practitioner – to be referred to a specialist. Then you wait. It can take a while. Our GP said he’d put a note in that mentioned developmental delays to make sure we were seen.

As a result, we spent a few days taking Sam for tests. They took his blood, X-rayed his hips and did a CT scan of his head. Just before Easter, we had a call asking us to go in on Good Friday so Sam could see a neurology specialist. That was the start of the worst few weeks of our lives.

The doctor pointed out some large white areas that shouldn’t have been there

The hospital was empty – Good Friday is a national holiday in the UK, so appointments aren’t routinely scheduled. That was the first sign something was seriously wrong. We were with the specialist for hours, answering questions about Sam’s medical history and his symptoms. He was examined thoroughly again, there were more blood tests.

Then we were shown the results of the CT scan. The doctor pointed out some large white areas that shouldn’t have been there – even to our untrained eyes, it looked abnormal. I can remember saying something like, “That can’t be good.” We had no idea just what ‘that’ might be. The doctor had some idea, we could tell, but he wasn’t sharing. He said he’d contacted a pediatric neurologist.

And that’s when I really started to worry. What was wrong with Sam? What if he didn’t get better? How could a little bump to the head mean he was suddenly sick? It hadn’t even left a mark! In fact, I wasn’t even sure he had hit his head.

This was far more serious than we’d imagined

The call came the next day. The details are burned into my brain. I can remember exactly where I was standing, what I was wearing, where everyone else was. The neurologist had looked at Sam’s scans, we were told, and there was something very wrong. We had to take Sam for an MRI and a lumbar puncture on the Tuesday, Easter Monday being another holiday. We’d planned to go on vacation but were told we had to cancel. I broke down, then, and handed the phone to my husband. This was far more serious than we’d imagined. Sam wasn’t going to just get better and be ‘fine’.

Waiting for the day of the appointment was torture. We scoured the internet, searching for clues and information as we tried to second-guess what might be wrong with Sam. Finally, Tuesday came. We went to the hospital to prepare – the procedures would be carried out on Wednesday morning. 

Family and friends kept trying to reassure us everything would be ok

During the night, Sam developed a fever. I noticed his speech was slow and slurred, although at the time I didn’t realize the two were linked. Because Sam was an emergency and not a scheduled case, we had to wait until they could fit him in for the MRI and lumbar puncture. Finally, on Wednesday afternoon, we were allowed home. We’d return the next day to discuss the results.

So, on Thursday, April 4, 2013, back we went. Family and friends kept trying to reassure us everything would be ok, but by now I knew it would be bad news. That attitudes of the doctors, the speed with which things were happening – none of it suggested a positive outcome.

She couldn’t tell us how long Sam would have to live

The neurologist told us Sam had Vanishing White Matter Disease (VWM). This is an incredibly rare condition that destroys myelin – the brain’s white matter – and permanently affects the transmission of brain signals to the rest of the body. It is progressive, untreatable, incurable and terminal. While the diagnosis wasn’t 100% confirmed, she said, anything that could cause the results Sam had would have the same outcome.

We learned that the younger a patient is when diagnosed, the more severe the case tends to be. She couldn’t tell us how long Sam would have to live – it might be two years, it could be ten. But we had to face the knowledge that, at some point, we’d have to bury our son. “I don’t really know what to say,” she told us. “Would you like a cup of tea?”

There are only around 250 people worldwide who suffer from VWM. A bump on the head, a fever, even anesthesia can cause a sudden and severe deterioration. Few people survive more than five to ten years after diagnosis.

It’s hard to describe just how terrible the next few days were. We took endless photographs and videos of Sam. Hours were spent searching online for information, which was scarce – after all, there were only 250 cases in the world. We tried to work out how we would cope, mourned for the life Sam would never have, for the family that would be incomplete.

After the initial grief, it was easier to cope than I expected

I spent a lot of time sleeping, whereas my husband barely slept at all. I’d wake in a panic, suddenly convinced we’d made a mistake. We’d told everyone Sam was dying when he wasn’t. Then I’d realize that would be a dream come true. Sam wasn’t fine, he never would be fine.

After the initial grief, it was easier to cope than I expected. At least we knew, now, what we were dealing with. I felt calmer. There was nothing to be done. We would be spared the stress of endless hospital visits, wondering whether they could cure Sam this time. As I saw it, there were two choices. I could accept the situation, learn to cope with it, and carry on. Or I could let it consume me. I knew the second choice would destroy not only me, but also my family.

I have never known someone smile and laugh as much as he does

We got official, genetic confirmation of Sam’s diagnosis a few months later – VWM is a recessive genetic disease. I was out shopping at the time and fell to my knees, crying, right there on the sidewalk. Even though we’d never questioned it, I realized there was a part of me that had kept hoping they’d got it wrong. Now, there was no doubt.

Sam can no longer stand, walk or even crawl. His speech is slow and he has hand tremors that make writing impossible. Even eating is a challenge. He has some learning difficulties and can’t read or recognize the letters of the alphabet. It’s likely he’ll wear diapers all his life. And yet Sam is the physical embodiment of joy.

I have never known someone smile and laugh as much as he does. He is
loving, kind and unfailingly positive. We are thankful for every day we have with him, and grateful to him for teaching us so much about what is important in life.

We made a very conscious decision to give him the best life we could

It’s a struggle, too. Any parent with a disabled child will tell you that. It takes its toll, mentally and physically. During the day, you get on with things. Life is happy, almost normal. At night, you’re exhausted. That’s when the sadness comes. It’s hard to describe, but it’s like you’re constantly balancing between tears and joy.

We were very clear on the choices we had when Sam was diagnosed. We could enclose him in a bubble, protect him and do all we could to keep him with us. Or, we could let him live life to the full, experience as much as possible – even if that meant we’d lose him sooner. We made a very conscious decision to give him the best life we could.

Sam has been to his first concert – the American rock band, Train. They are his favorite, and he got to meet them. He’s eaten pizza in Naples and ridden a gondola in Venice. One birthday was celebrated in Budapest. He’s sat on Santa’s lap and met his favorite Formula 1 racing driver, four-time world champion Sebastian Vettel. He’s been skiing and water-skiing.

He’s visited 42 states and 22 different countries. In his eight years, he’s done more than many people do in a lifetime. And although it will get more difficult as he gets older, we’ll carry on making sure he experiences as much of life as he can.

A few years back, we started the VWM Families Foundation to fund VWM research projects around the world. Some of them are showing positive results. Doctors have found drugs they believe will stop the disease progressing, although not undo any damage already caused.

We’re doing all we can to raise enough funds to accelerate testing, bring them to market, and support VWM families. Whatever happens with Sam, we’re determined he will have a meaningful legacy.

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