Our Story

Matt and JoeOn 13 July 2008 I completed the Ironman Switzerland triathlon (3.8km swim, 180km bike, 42km run) and raised money for research into finding a cure for my son, Joseph, who has been diagnosed with an incurable neurological genetic disease called Leukodystrophy, and for others affected by similar demyelinating diseases.  Since this event, we have had many requests to keep the blog alive.  Some family and friends want us to keep them updated on Joseph’s progress and others want to do their own fundraising efforts so that we can keep the money coming in for our chosen charity: The European Leukodystrophy Association (ELA).

For those of you who are visiting our blog for the first time, here is a summary about our son’s illness. Joseph was born on the 5 October 2006. He was perfect and my wife, Colette, and I couldn’t have been any happier. However, after only a few months, it was clear that Joseph was not developing properly. He looked beautiful, but he just wasn’t happy, nor was he meeting any of his milestones – he wasn’t grabbing things, holding his head, rolling, sitting up, smiling, laughing, babbling and so on.

When we started to wean him at about 6 months of age, he started to have major feeding difficulties and every mealtime was a struggle.  Joseph was constantly crying, he was not sleeping, he was refusing to drink, and all sorts of strange things were happening him, from jerky eye movements to body spasms. After expressing our concerns to our pediatrician, Joseph was referred onto a neurologist for an assessment. A couple of weeks after this, we admitted him into hospital where he stayed for 8 days and a long list of tests started, including various brain scans, a CT scan, an MRI scan, a lumbar puncture, various blood tests, food allergy and metabolic tests.

Three months later Joseph was diagnosed with having Leukodystrophy.  The next search was to find out which one of the 34 different types of Leukodystrophy Joseph had. Genetic test results have confirmed that Joseph has Aicardi Goutieres Syndrome, an extremely rare form of Leukodystrophy.  There are only 200 known cases in the World and the genes for this syndrome have only recently been discovered (2006) by Dr Yanick Crow of Manchester University and the Necker Clinic for sick children in Paris.

Joseph is now 8 years old.  He attends a special social, medical, educational centre 5 days a week. He is tube fed via a hole in his tummy (gastrostomy). He continues to have very little control of any muscle in his body.  He still cannot sit up, stand up, walk or talk.  Despite all his challenges, he is a charmer and has a wicked sense of humour.

I hope that you will keep in touch from time to time and find out how Joseph is progressing and to see what fundraising efforts are going on around the World.

We have been overawed by the support, generosity and goodwill that we have received from so many people.  For anyone who has not yet donated, it is not too late.  No matter how small a donation, maybe one day we may be able to find a cure for this horrendous debilitating disease.  Thank you.

Matt Swift