Anne Dempsey talks to Clare man Robert O'Neill on "let's get on with life" despite EB
Robert O'Neill didn't watch last Thursday's documentary on Channel 4, The Boy Whose Skin Fell Off, which chronicled the last four months of Jonny Kennedy's life. Jonny (36), a remarkable stoic (in the very best sense) and campaigner from Northumberland, suffered from the rare genetic skin condition EB and died of skin cancer.
But Robert (23), from Clonlara, Co Clare, who also suffers from EB went out that night. "I didn't need to see it to know how bad EB can be. I know about the daily struggle he would have gone through. It is a horrific condition, but there would have been nothing in the programme that I don't know about, so I don't think it would have offered me anything."
Epidermolysis Bullosa (EB) is a defect in the structure that holds the layers of skin together causing it to break down, blister and wound with the least friction.
Points of contact such as hands, feet and joints take the most punishment and many sufferers have large body areas dressed and bandaged daily.
Nor is the scarring and wounding merely external, and people can become malnourished due to an inability to swallow. With its harrowing images, the Channel 4 programme must have made upsetting viewing for some of the 200 plus Irish families involved with EB.
But there is another side to the story. The trick, says Robert, is to find a balance between managing limitations without being foolhardy.
"As a kid I used to have a kickabout outside with my pals and suffered the consequences, but the more I did it, the more able I was for it. Today all contact sports are out, but I play pool. I can't walk for long distances, but I can get about, I can drive.
"I go clubbing, I've friends and hobbies like everyone else. I make model cars, it's not easy because my hands are bandaged but I usually find a way, and if necessary, ask for help.
"I have to watch my diet. I can't eat steak and I wouldn't want it now. The problem is not the digestion, it's getting the food past my throat in the first place.
"My parents were fantastic and gave me a very positive attitude. It was a case of 'yes, you're different, but so is everyone, so let's get on with it', while providing me with whatever was available in terms of cutting edge technology. I didn't miss a day of school. Because a long written exam would have been too much for my hands, I did my Leaving Cert orally with the help of voice recognition software.
"After school, I took Business Studies and last month began work as liaison officer with the Central Remedial Clinic. Part of my job will be assessing people with a range of disabilities in order to match them with appropriate assistive technology. Having been through it myself, I understand the issues."
Robert is also studying for a H.Dip, currently doing teaching practice in Castletroy, Co Limerick. "With each new class I stand up, explain my disability in simple terms and let them know they can ask me anything they want. I find the kids are great and you need to give them credit and not hide things."
Traditionally, people with EB had poorer life expectancy but Robert says this is changing too. "When I was born I was giving 24 hours to live, but 23 years later, I'm not going anywhere. EB doesn't kill, but complications such as cancers, malnourishment and poor immune systems can. I don't see myself succumbing to any of those. I eat well, I have regular check-ups and I am extremely healthy.
"I think it's important for parents to know that there is hope for young people with EB today. I would say to parents, don't hold them back, let them do everything they are capable of. It will be difficult when you feel so protective, but trust them to be realistic and responsible too, and let them go."
q Debra Ireland, which represents and supports patients with EB and their families, is currently funding research into wound healing and EB at Cork University Hospital - research which will have wider benefits. The organisation has a 'Trek to the Pyrenees' as a research fund-raiser over the June Bank Holiday weekend.
For more information regarding support, research or the Trek, contact Debra Ireland, 10 Burgh Quay, Dublin 2, tel: 01-6776855, e-mail info@debraireland.org - website: www.debraireland.org