Jonny's legacy

One man's death from a rare skin disease has provided other sufferers with real hope, reports Cayte Williams

It's easy to be cynical about the current glut of "real life" TV documentaries: we get to spy on a personal tragedy, the production company gets good ratings. However, one of these programmes has had a happy consequence, even if the show itself had no happy ending.

The Boy Whose Skin Fell Off aired in March this year and told the story of Jonny Kennedy, a 36-year-old man who suffered from a rare skin condition, dystrophic epidermolysis bullosa (EB), where his skin blistered and came away from his body. The Boy revealed a man, constantly in pain, who refused to give in to self-pity, and the documentary followed him in the final months of his life and ended with his death from EB-related skin cancer on 26 September 2003.

Viewers were so moved by his pluck that they donated in their droves. The programme was directly responsible for raising over £500,000 for the EB charity, DebRA, and now - six months after its broadcast - a specialist EB laboratory and ward opens today, paid for and spurred on by those donations.

Located at Guy's and St Thomas' Hospital in London, the lab will be able to test and diagnose skin swabs in a couple of hours (it took days before) but researchers are also hoping for the big breakthrough - a cure.

So what exactly is EB? A genetic disorder that affects about 5,000 sufferers in the UK, it has three forms: Simplex, the mildest form, causing blisters on the hands and feet, Junctional, the most grim, causes dissolution of the skin and body linings and sufferers rarely survive infancy, while Dystrophic causes blistering and dissolution of the skin over the whole body.

Edna Kennedy, Jonny's mother, says she hopes the lab will find ways to alleviate the symptoms of EB and hopes that her son's legacy will eventually find an effective treatment.

"When Jonny was small, no one knew how to handle the condition," she says. "I hope the lab will be able to give people some relief from the pain, something other than morphine. Jonny maintained that the drug didn't kill the pain, it was just that you didn't care that you were in pain. But if they did find a cure, it would be like winning the lottery ten times over."

Sam Hall, 21, a graduate from Warrington, has recessive dystrophic EB. Every morning a carer comes to her home, gives her pain-killers and a bath and bandages her skin. The whole process takes over three hours. "I don't let EB get me down," she says. "I drive, I go out with my friends, I try not to let it affect me, but it's really painful."

So what does the opening of the laboratory and ward mean to her? "It's really good that there's somewhere now that is purely just for EB," she says. "When I go to the doctors or casualty, people often think I've burnt myself, so it will be great to go somewhere I won't have to keep explaining my condition. That's always a nightmare."

So how will the lab try to find a treatment that works? "It is hoped that gene therapy will eventually lead to successful treatment of the disease," says Professor John McGrath, professor of molecular dermatology at King's College, London, and head of the new laboratory. "We're hoping we'll be successful with ex-vivo gene therapy, where we take a small skin sample, grow it in the lab, add an artificial copy of the missing gene - for Jonny's condition it is a gene called Collagen VII - then graft the skin back on like a patchwork quilt. With fine tuning, we should be able to use this treatment in two and a half years."

Apart from finding a cure, Professor McGrath points out that the ward will be "like a superstore for someone with EB. A patient will be able to stay overnight in the London ward and will be able to see all the people that can help with the condition - a dermatologist, physio, dietician, a plastic surgeon, an occupational therapist, etc."

The Boy Whose Skin Fell Off was originally intended for release only in the North-east after Kennedy approached the local TV company, Yipp Films. But Channel 4 was impressed and bought it for national scheduling. "Jonny was trying to write a diary," says Laura Jones, spokesperson for DebRA. "As soon as he found out he was going to die, he wanted to raise awareness so that other people wouldn't suffer the way he did."

The donations have kickstarted research that will require more funding, says Professor McGrath. "Jonny's vision that things would be better for the next generation is bearing fruit because the whole scale of EB research has been magnified due to his legacy," he says. "Public awareness is there and we're trying to deliver."

Jonny Kennedy died on 26 September 2003.

'The Boy Whose Skin Fell Off' will be broadcast at the end of September with an update from Edna Kennedy. To make a donation to DebRA or find out more about EBcall 01344 117961 or visit www.debra.org.uk