Matthew was born on 14th November 1989. He was a good weight and all early developmental milestones were met. At around the time of his second birthday we noticed that he was a little unsteady on his feet and wanted to hold on to your hand a lot of the time. I became concerned so went to see our family doctor who despite Matthew running around his surgery wreaking havoc, took my concerns seriously and referred us to the Physio department of a local children hospital.
On that first visit to the physio department the word ‘neurological’ was mentioned and my heart filled with dread. I knew then that this was quite possibly something very serious.
After this there were blood tests to check for various things, muscular dystrophy was considered first, but ruled out with tests coming back normal as did all the others. Matthew finally had CT and MRI scans and from these it was obvious that there was very little white matter in his brain.
After this we were referred to Great Ormond Street Hospital in London and a Consultant Paediatric Neurologist for more tests. We were told that Matthew had a leukodystrophy a very rare disease and tests now were to find out which type. Test after test after test ruled out all the known leukodystrophies…perhaps they had got it wrong…all the tests were coming back normal!!
I researched as much as I could into leukodystrophy as although Matthew had an Undiagnosed Leukodystrophy his disease was following the course of several known ones. Matthew was able to go to a wonderful school for physically disabled children in our area, his motor skills were declining at that stage, and as best we could we tried to live a ‘normal’ family life….we went to DisneyWorld in Florida and had other holidays abroad in Europe and tried to not let what was happening in our world stop us doing anything. He had periods of being really well and almost seemed to be improving at times.
I joined the United Leukodystrophy Foundation (ULF) in America, the Myelin Project in the UK and learned as much as I could. I attended several ULF Conferences with different family members accompanying me for support. I took Matthew’s test results and scans and these were reviewed by Doctors there but still came back as Undiagnosed. In July 1997, I attended the ULF Conference and met Dr Marjo van der Knapp. She reviewed Matthew’s tests and scans and confirmed that he had a newly identified leukodystrophy — Vanishing White Matter/CACH (VWM).
In early December 1997, Matthew went into hospital…he was very poorly…he had a high temperature, lots of tests were run, a virus possibly. We stayed there over Christmas and New Year, it was not the best time, and we lost him on the evening of the 11th January 1998.
When the gene was identified for VWM we were contacted by Dr van der Knaap’s team and Matthew’s father and I sent blood over to Amsterdam where it was confirmed that we were both carriers.
Recently, I have now joined the Find a Cure for VWM on Facebook and will consent for Matthews details to be included in the new VWM registry which is being compiled in Holland. I have always believed that there will be a cure for this devastating disease one day. I think I knew in my heart that it wouldn’t be in time to help Matthew but it will be there, in the hopefully not too distant future.
My son Matthew gained his angel wings on 11th January 1998, 21 years ago today. It’s a long, long time ago but still feels like yesterday….
Written by Matthew’s mom