Health: Handle with care

Published on Friday 16 May 2008 13:29

Jim Jim's parents could never cuddle their son or wipe away his tears. But the short life of this fragile little boy, born with the rare condition EB, has left a lasting impression

WHEN Viola Lynch hears new mothers complaining about their lack of sleep, she wants to tell them how lucky they are. "I would like to say, 'You don't know how much I want to be there for my son, to watch him every night.'"

Viola's son James, known as Jim Jim, died on September 11 last year, aged just four months. He suffered from epidermolysis bullosa (EB), a rare genetic condition that makes the skin as fragile as a butterfly's wing, and means it can blister and tear at the slightest knock or rub. His parents were only able to hold their son twice – once, just after he was born, and again just after he died. They could never bathe him, or stroke his face, or wipe away his tears.

When Jim Jim was born, after an uneventful pregnancy, Viola and Martin, from Stepps, Glasgow, could see something was wrong – there were red patches all over his body and his fingers looked sore. But it was two weeks before the results of a skin biopsy confirmed he had junctional EB – the most serious kind, which is fatal in infancy. The consultant told them the boy would probably die before his first birthday.

"I'd never seen my husband cry before," says Viola softly. "But he said that for the first time in his life he felt he was beaten, he couldn't do anything to help his son."

Even in the hospital, no one knew quite how to take care of Jim Jim. If you can't touch a baby, how do you change its nappy? "I remember in the hospital, the first time I changed his nappy, I started crying and said I couldn't do it," says Viola. "The nurse said, 'I understand, I've been nursing for years and I still find it difficult. But he needs you and you have to do it.' So I did."

When it was time to leave the hospital, the nurses told them: "Take him home and enjoy him." They did their best, though it wasn't easy. He needed nine different drugs a day, had dressings that took four hours to change, and Viola would spend every night sitting by his bed and watching that he didn't damage himself while he slept. Even rubbing his eyes, as every baby does, could have caused terrible blistering. "Sometimes I'd want to hold him so badly, but I couldn't," she says. "He had a special mattress which was really soft and didn't cause friction and when we nursed him, or he cried, we'd pick him up with the mattress as well. One time when I was giving him his bottle, I was holding his head with my hand to support him and a huge piece of skin and hair came off – it was like he was falling apart."

And yet there were some happy moments. "I would push him in his pram outside, I'd sing him songs and we'd sit in the garden together," says Viola. "At about three months he started to smile. It felt like winning the lottery."

Viola had spoken to another mother whose baby had died from EB a few years before. "She said, 'At the end they will stop feeding and you know it's coming.' One day at the beginning of September I gave Jim Jim his bottle and he tried to avoid it. I knew something was wrong."

It quickly became clear his condition was deteriorating fast. His parents drove him to Robin House, a children's hospice in Balloch, where he died with Viola and Martin by his side. "My husband and I placed our hands on his chest. I could feel his heartbeat and all of a sudden it just stopped.

"Then the nurse asked if we wanted to hold him without his mattress and we were finally able to hold him properly, and kiss him, like you do with your child."

People say things happen for a reason, but Viola doesn't know what that reason is. "The way I look at it is Jim Jim made me a different person, a stronger person. I'll think, 'I can't do this,' and then I'll think of Jim Jim, who was so brave.

Next Sunday, Viola and Martin are taking part in Glasgow's Great Scottish Walk. Their aim is to raise 25,000 in Jim Jim's memory, to go towards DebRA, the charity seeking to find a cure for EB which also provides parents like the Lynches with expert help when they need it most.

"We want to raise funds for DebRA because, of course, we want to find a cure, but until then we still need their expert help to make people's quality of life better. Even now the DebRA nurse visits all the time to make sure we're okay. We'd never donated a penny, never even heard of them, but they were there for us when we needed them."

There is a one in four chance that any future child Viola and Martin have will have EB but, as Martin says, that's a three in four chance that it won't. "I always used to think I wanted three children," says Viola. "Now I'd settle for one. Someone said to me, 'Do you want him back?' and I said, 'Only if he could be healthy.' It wouldn't be fair for him to live like that.

"But I'm still so glad that he came along. I'm glad I had a son like Jim Jim."

• To sponsor Martin and Viola, visit www.justgiving.com/jim_jim

• To find out more about the work DebRA does, visit www.debra.org.uk

What is EB?

Epidermolysis bullosa (EB) is a very rare genetic condition in which the skin and internal body linings blister at the slightest knock or rub.

The term 'butterfly children' is sometimes used to describe those born with the condition.

It affects around one in 17,000 live births and it is estimated there are currently 5,000 people with the condition in the UK – between 300 and 400 in Scotland.

In its mildest form, the blistering is confined to the hands and feet, making holding objects and walking extremely painful. In more severe forms the whole body is affected.

Although there is no known cure, research at the University of Dundee by Professor Irwin McLean is "moving rapidly". His team hopes to be able to switch off the abnormal gene that causes the mildest form of EB and is aiming for clinical trials on humans within the next two years.

Living with EB: one girl's story

Hannah McKandie, from Aberdeenshire, will be 11 in October. She was diagnosed with dystrophic EB shortly after birth. At an age when other children are starting to assert themselves, Hannah, though fiercely independent, is forced to rely on others 24 hours a day. Although she attends mainstream school, she can't be left alone and so has three carers who take it in turns to look after her.

The scarring from her blisters is causing her fingers to fuse together and her mouth to narrow so that her speech is hard to understand. Her feet are now so painful she can only walk short distances, otherwise she travels around in an electric wheelchair. She's fed through a tube and has just come out of hospital after a serious infection. Before she can even get out of bed she needs a strong painkiller – the first of 40 drugs she takes each day.

But, says her mother Amanda, "If you ask her how she's doing, she'll say, 'Fine.' She wouldn't say anything else."

Though wary of crowds in case she gets knocked, Hannah enjoys school and playing with her best friend Shannah. She loves to read. "She wants to be a librarian when she grows up, because she likes her books," says Amanda, "or there's a back-up plan to be an artist."

She and her sister Natalie – who doesn't have EB but is a carrier – are very close. "Natalie doesn't like it when her sister has to go into hospital and isn't there to boss her around," says Amanda.

Despite her condition, Hannah's parents are keen she experiences as much of life as possible. "It's the little things you don't think about," says Amanda, "like the fact that she's never had sand between her toes." Hannah has, however, managed to go swimming both in the sea and in a pool thanks to a special wetsuit that was made for her.

How each family copes, says her mother, is up to them. "Everyone has their own way of doing things, but I believe that life is what you make of it yourself. We're trying to make it as normal as possible."