Touching Lives - June 2004
The boy whose skin fell off
Many of us will have seen the moving documentary on Channel 4 in the Spring about Jonny Kennedy — a man with the rare skin condition Dystrophic Epidermolysis Bullosa or EB. 36-year-old Jonny was quite extraordinarily courageous as he battled with the terrible condition which made his skin liable to shed at the slightest touch. His body was covered in agonising sores which eventually led to his final fight against skin cancer.
What you may not have realised is that Action Medical Research has a track record in funding research into this and other closely related skin disorders. Professor John McGrath of the St John’s Institute of Dermatology in London and a former Action Medical Research grantholder advised the makers of the documentary.
He told Touching Lives: “Jonny was under the clinical care of a close colleague, so I was involved in some of the clinical decision-making for Jonny too. Jonny was a remarkable individual. He was incredibly brave. I saw him in his quieter moments, living day to day, and in agony, with EB. He was the life and soul when people were around, but otherwise he was largely suffering great torment, both physical and psychological.”
Many of the skin-related conditions that Professor McGrath has researched are genetically similar to EB. For his second Action Medical Research grant, Professor McGrath investigated Kindler syndrome. It’s a variant of EB, and the project led to the discovery of a brand new protein (called kindlin-1) which is very important in holding skin together and preventing blisters.
There’s still a great need for medical research into EB and related skin disorders. “Without medical research you’d be completely in the dark on how to diagnose, manage and treat these conditions,” Professor McGrath says.
“We can now pinpoint the causes of EB to deficiencies in the skin’s structure and its proteins. With this knowledge we can make accurate diagnoses, ascertain which treatments might help, provide better counselling, offer families pre-natal diagnosis, and, importantly, begin to look at gene replacement therapies.
1.5million Euro grant
“Our consortium has just been awarded a 1.5million Euro grant from the EU to look at gene therapies. We hope to run the first clinical trials in two to three years. Then we’ll either be back to the drawing board or be set for a rapid expansion of these new therapies!”
Important as this new funding stream is for EB sufferers and their families, Professor McGrath values the role charities can play in the fight against these terrible conditions. He says, “The money often isn’t there to fund work into rare diseases. Charities like Action Medical Research have an essential role to play in increasing our knowledge about these disorders.”
And what of Jonny’s legacy? “This amazing man not only raised thousands of pounds for research into EB, he crucially raised awareness into what is a cruel but largely unknown disease. He has surely made things better for future generations who will have EB, by fighting against ignorance of the disease, and by fighting for better treatments.”