Few of us have heard of EB, a terrible and little-known incurable disease. But a new TV documentary being screened next week could change all that, says Health Correspondent Barry Nelson

When Jonny Kennedy finally made it to 10 Downing Street last year, he fulfilled a life's ambition. But the 36-year-old Geordie was so ill that he was barely aware of meeting Cherie Blair at a reception for a small charity called DebRA.

Within 24 hours of being pushed around No.10 in a wheelchair, Jonny's long-suffering life had come to an end. Poignantly, the tireless charity campaigner died peacefully on the train back to the North-East.

His determination to get to Downing Street, despite being so close to death, typified Jonny's spirit and refusal to give in to his terrible illness, dystrophic epidermolysis bullosa (EB).

Very few people have heard of EB yet it affects 5,000 Britons, including around 60 in the North-East.

An incurable, untreatable hereditary disease, EB turns the sufferer's skin into a blistering, suppurating, painful mess. Many sufferers have to have their entire body surface dressed with bandages every day of their lives.

Apart from being disabling and disfiguring, the condition often leads to skin cancer, which in EB patients is extremely difficult to treat.

On Thursday viewers across Britain will get the chance to hear Jonny's moving story first hand, thanks to a collaboration between DebRA (the RA stands for Research Association) and Channel 4. DebRA is hoping that the film will raise the profile of the charity and help raise cash for research into treatment and, eventually, a cure.

Film maker Patrick Collerton was introduced to Jonny a few months before he died last September. The resulting documentary, entitled The Boy Whose Skin Fell Off, will be most viewers' first experience of EB.

Anyone watching will also be struck by Jonny's determination to go down fighting, despite being diagnosed with a fatal form of skin cancer linked to his condition.

"I like to see it as the skin is like Velcro, but the hooks are missing," says Jonny in his blunt style. "Any knocks or friction pull the skin off and then you're knackered,"

Apart from talking about his attitude to life and death with EB, Jonny is shown chatting to model Nell McAndrew at a DebRA charity do, choosing a coffin with a baked-bean can motif, and deciding to leave home to live on his own during the final months remaining to him.

He is heard speculating about his imminent demise and the practical aftermath. "Is it going to be painful? How long will it last? Am I going to drag on and be a dribbling old fart?"

He comes to the conclusion: "I'd rather just go to bed go to sleep, pop me clogs, over with."

A spokeswoman for Channel 4 says, "In this film Jonny displays a devilish humour, an acute intelligence and an unwillingness to suffer his fate, or fools, gladly."

The film includes interviews with Jonny's friends and family, including his mother Edna, who has been his life-long carer. Because of the suffering experienced by her son, she explains that she has mixed feelings towards Jonny's death.

"If I had been in a more modern situation (there is now a pre-natal test for EB) and found myself pregnant, I would have aborted the baby and not felt guilty about it as some people do, having seen what these children have to go through."

Edna, who also comes from Newcastle, is devastatingly honest about carrying an EB baby: "I was asked one time if I would carry on with a birth knowing than an EB child would be born and I said 'no', I would terminate. It's not just a disabled child that's being born, it's disabling a whole family."

She also talks about her mixed feelings at her son's impending death.

"It'll be a relief for Jonny, a release, but it'll be a relief for me as well, so I'm going to feel that. Then I'm going to feel terribly guilty, feeling relieved that he's not there. And on top of all of that, I'm going to miss him desperately."

Mark Smith, director of fund raising with DebRA, hopes that Jonny's story will put the condition on the medical map and lead to much-needed support.

"Because of Jonny's commitment and bravery, it will raise awareness of this condition. On the back of the programme we are going to launch a direct mail campaign," says Mark. "EB is a condition that has been described as the worst thing you have never heard of, but as soon as you do hear about it there is something rather compelling about it which makes you want to help."

Due to progress in genetic medicine and the deciphering of the human genome it has never been more important to support research, he adds.

"In the last eight years, the family of ten genes responsible for causing EB have been identified. In the last four years, there has been more progress and we now know that a gene which produces a particular protein in the skin is missing."

On the treatment side, there are high hopes that patient trials could get underway in the near future. "We are realistically hoping to develop new ways of treating EB within the next two to three years. Meanwhile, the fight goes on to determine an effective overall cure," he adds.

Apart from limiting life-expectancy in severe cases, the condition also leaves sufferers vulnerable to skin cancer. In Jonny's case the options for treating his cancer were so traumatic that he preferred to die.

In the film Jonny expresses his irritation that death still frightens people.

"They won't talk about it and it's such a shame because it's part of life," he says. "So why not organise it like you would organise an anniversary or a birthday? Let's get it right."

* For more information about EB or if you want to make a donation go to www.debra.org.uk or telephone 01344 771 961