The Story of Sam’s Rare Diagnosis

April 28, 2015

Until February 2013, our two-year-old son, Sam, was a completely normal child.  There were no problems during my pregnancy or his birth, he met every milestone, and overall was healthy.  He would trip and fall a lot when walking or running, but we never thought anything of it.

On February 23, 2013 , Sam was playing on our bed, he for some reason, decided to jump off and landed on his side onto two layers of carpet.  I was only a few feet away and watched this happen.  He didn’t start crying immediately so my husband and I rushed over, he was unresponsive and limp, like he had passed out.  After about thirty seconds (though it felt like forever) he woke up and started screaming.  We calmed him down and looked him over; he seemed fine, he had stopped crying and did not appear to be in any pain.  After a few minutes we tried to stand him up and he collapsed in a heap.  We tried a few more times but he couldn’t stand, he was not able to bear weight on his legs at all.  We called 999 (911 in the UK – we were living just outside London at the time).

An EMT came to the house, he examined Sam while he was sitting on the sofa and couldn’t find anything wrong with him.  Then we stood him up, and again he immediately collapsed.  The EMT said something like “oh, that’s not right”.  He called an ambulance and Sam and I went to the hospital.  At the hospital I noticed that he was getting a little better, some of his ability to bear weight on his legs was returning, though he still couldn’t walk or stand up on his own.  I remember Sam saying over and over again “Mommy, I can’t walk” in the waiting room.  Never did it occur to me that this was a problem that couldn’t be fixed, he had been a perfectly healthy two-year-old just a few hours before.


When we finally got the see the ER doctor he looked Sam over quickly, said it was probably a hip sprain, wait a few weeks to see if it got better and sent us home.  No tests were run at the hospital.  A hip sprain seemed unlikely as Sam did not seem to be in any pain, but I am not a doctor so we went home and waited.

Sam did start to recover.  After a week he was able to walk and stand, but not like he could before. He was dragging one of his legs and crisscrossing them when he walked, causing him to fall a lot.  Two weeks after the initial fall he still wasn’t back to normal so we went to the doctor.  We were again sent home, told these things can take a long time to heal.  A week or so later I took him back to the doctor and was again sent home.  Finally about 5 weeks after the initial fall, my husband came with me to the doctor to insist tests be run to find out what was wrong with our son.  After much convincing on our part, the doctor did finally put in a referral  to a pediatrician.  The health system works a bit like an HMO in the UK, you have to go through your primary care doctor (GP) in order to be referred to a specialist, which include pediatricians.  The GP told us he didn’t think they would pick it up at the hospital, but he did us a favor and put a note in the referral about developmental delays.  This is what caused the hospital to follow-up.

We were contacted by a pediatrician, and I spent the next few days taking Sam to the local hospital for tests.  They took blood, an x-ray of his hips and a CT scan of his head.  On the Thursday before Easter, the hospital called us and asked us to come in on Good Friday so Sam could see a pediatrician that specializes in neurology.  This was the beginning of the worst few weeks of our lives.

We went to the hospital (which was completely empty, Good Friday is a holiday in the UK – the first sign that things were much worse than we initially thought).  We spent hours with the pediatrician (who was wonderful).  There were detailed questions about Sam’s history and symptoms, a thorough examination and more blood tests.  Then the doctor showed us the results of the CT scan.  It was obvious even to our untrained eyes that the CT scan was abnormal, I remember saying something along the lines of “that can’t be good”, though what this actually meant we still couldn’t imagine. We could tell the doctor had some inkling of what the problem was but wasn’t telling us.  We now know why.  He had already contacted a pediatric neurologist at a hospital in London, and would call us to let us know about next steps.

This is when I started to worry, though I was still unable to imagine what was to come, I was starting to think that Sam wouldn’t get better.  I still couldn’t fathom how Sam could suddenly be sick with only a small bump on the head? The bump hadn’t even left a mark and I wasn’t even 100% sure he had hit his head.

The next day we were at my in-laws for Easter when I got the call.  I can remember exactly where I was standing, what I was wearing, where everyone else in the house was, every little detail about that call.  The neurologist had looked at Sam’s scans.  There was indeed something wrong with our son, we needed to bring Sam in for an MRI and lumbar puncture on Tuesday (Monday was a holiday in the UK for Easter).  We had planned to go on vacation on Easter Monday, and were told that we would have to cancel our trip.  That is when I broke down, I had to hand the phone to my husband because I was shaking and could no longer speak coherently.  That was also when I knew without a doubt that there was something very, very wrong with our son and everything was not going to be fine.

Having to wait days until we could go to the hospital for tests was sheer torture.  We of course scoured the internet trying to figure out what was wrong with Sam, Cerebral Palsy seemed to have similar symptoms but didn’t quite fit, he didn’t bump his head very hard and his symptoms had improved after the initial fall.  I barely slept, tried to put on a brave face for our kids, but was terrified and knew our lives were about to change.  Finally, we were called into the hospital on Tuesday afternoon in preparation for the MRI and lumbar puncture on Wednesday morning.

At the hospital we met our neurologist and her associate (I think we were up to the 4th specialist we had seen in a week), they spent hours examining Sam and asking us questions.  It was obvious that whatever he had was very serious, it was also obvious that they knew what it was, and just weren’t telling us.  Never a good sign.  I stayed overnight in the hospital with Sam, during the night Sam started developing a fever.  I remember that bizarrely his speech was slowing and he was more difficult to understand, but I of course couldn’t link the fever with the speech at the time, why would I?  Because Sam was an emergency case and not scheduled (again a bad sign), we had to wait until they could fit him in late morning.  We finally went home Wednesday afternoon and had an appointment to come back the next day with Sam to discuss the results.


On Thursday, April 4, 2013 we went back to the hospital.  By this point I knew the news was going to be bad; friends and family kept trying to reassure me that everything would be ok but I knew it would not.  I could tell by how the doctors had all tiptoed around us, the way they were spending so much time with us, the way that things were happening so quickly (the National Health Service is a lot of things, quick is not usually one of them).  While we sat in the waiting room there was a child in a wheelchair, my husband remembers thinking “well at least it won’t be that bad”.

We were called into the neurologist’s office and she showed us Sam’s MRI.  There were large white areas on the scan that should not have been there, in a very clear pattern radiating our from the center of Sam’s brain (See the picture below, this isn’t Sam’s MRI but his looks very similar, A is a normal brain, B is a VWM patient’s brain).  She then went on to explain to us that Sam has an extremely rare brain disease called Vanishing White Matter Disease.  It is progressive, untreatable, incurable and terminal.  At this stage the diagnosis wasn’t 100%, but anything that could cause an MRI like Sam’s would have the same outcome.  She told us that the younger a patient diagnosed the more severe the disease tends to be.  Sam was diagnosed young for a VWM case and seemed to be progressing rapidly.  She didn’t know how long he had, but it was unlikely he would live to his teens, we could have as little as 3 years.   She then said “I don’t really know what to say, would you like a cup of tea?”.  I replied “I think I might throw up if I have a cup of tea”.

mri of two brains (healthy and VWM).jpg_SIA - JPG - Fit to Width_172_true

The first few days after Sam’s diagnosis were horrible, days spent taking endless photos and videos of Sam, scouring the internet for information on VWM (there was very little naturally – with only 250 cases worldwide information is scarce), and trying to figure out how we were going to cope.  We mourned the life Sam would never have, the life we thought our family would live. We were painfully aware that our life had just been divided into before the diagnosis, and after.  Nights for me were spent sleeping long hours, though my husband was not so lucky and barely slept at all.

I knew that I had to tell people, I wanted to tell people, I also knew there was absolutely no way I could call anyone or tell them in person, it was impossible.  We sent emails to our close friends and announced it on facebook.  The emails and messages we received after that announcement were a huge source of comfort.  I wasn’t able to reply to them all, but I remember and appreciated every single message.  During this time, my husband and I made a very conscious decision to give Sam the very best life we could, to let him live his life fully while he can, even if that meant he was taken from us sooner.

Once the fog of grief lifted (this took 3 days for me, 2 for my husband) I found it was actually easier to cope after the diagnosis than before.  Now that I knew what I was dealing with I was much calmer.  It was helpful for me to know that there was nothing to be done, we wouldn’t have the stress of endless hospital stays, we wouldn’t have the stress of wondering, hoping and not knowing what was wrong with Sam.  I now knew what we were facing and had to learn to live with it.  As far and I could see it, I had 2 choices; I could cope with it and keep living, or I could let it consume me.  The latter was never an option.  Not only would it destroy me, it would destroy my family as well.

Things went back to “normal” surprisingly quickly.  We found a facebook group of VWM families that became a lifeline, we found the amazing people at Shooting Star Chase Children’s Hospice, who were a huge source of support, comfort and understanding when we needed it the most.

Continue reading on their website here.

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