When love hurts

This was the experience of Rachael and Andy Grist on the birth of their second daughter Isla. The couple, who now live close to where Rachael grew up in North Kessock, near Inverness, were based in Lancashire when Rachael went into a very swift labour. Andy, 38, who is in the RAF, arrived home 20 minutes before Isla was born on the bathroom floor. The paramedics made it with minutes to spare.

The scene is seared on Rachael's memory. "When Isla was born the paramedics said she was in a lot of pain. Her hands and feet were red raw and the skin had just been completely removed. They didn't know what the problem was."

Andy and the new baby were rushed to hospital while Rachael waited for the midwife's arrival, before following in a second ambulance. At hospital, Andy was reassured that rubbed-away skin was not uncommon. "Then Rachael arrived and one of the pediatricians said: 'If it's what I think it is, she could die really quickly,'" recalls Andy. "So it went from 'it's normal' to 'she's going to die' in the space of a day."

"For us it was a big shock," says Rachael, 36, whose elder daughter Emily is aged six and does not have the condition. "We had no idea that anything was going to be wrong. It was a healthy, normal pregnancy."

The couple barely slept that night. Within a few days a specialist had confirmed that Isla had the genetic skin blistering condition Epidermolysis Bullosa or EB. They then had an agonising two week wait to discover if Isla had Junctional EB, which could mean that she might die as an infant. Half of the children with this type of EB die within two years as the result of malnutrition and anaemia caused by serious blistering in the pharynx and the oesophagus. A diagnosis of Dystrophic EB would mean that she could survive to early adulthood.

"They told us not to do any research because it's limited what you can learn on the internet and also because you get the worst stories," says Rachael. "For two weeks it was all very unknown."

Finally, the news came that Isla had Dystrophic EB, which means she should live beyond childhood into her teens but would need a lifetime of care. It is described as recessive because both Andy and Rachael were, unknowingly, carriers of a genetic mutation which causes EB.

After 10 days, Rachael was sent home to face the terrifying prospect of being responsible for not just a new baby but one who was going to need special care.

An expert in EB from Birmingham Children's Hospital taught the couple how to handle Isla and deal with her dressings, but they were still so scared of tearing her skin when they picked her up that they carried her around on a padded mattress. "In the first six weeks she must have really missed out on cuddles and all the normal things that babies get but we learned," says Rachael.

People with the more severe types of EB have an exceptionally high risk of developing skin cancers.

Today, aged three, Isla is a vision of loveliness with big brown eyes and cherubic strawberry blond curls like her mum and elder sister. She's dressed in pink – to match her much-loved Pippa Pig. Rachael describes her as an inquisitive and watchful child, but she is also prone to quiet, animated chatter and displays a glint of mischief as she tries to make Magic, the family dog, dance with her.

Her days are shaped by her condition. Getting dressed in the morning always takes a lot longer because Rachael has to check her body for blisters and change dressings and apply cream. Isla can only have a bath twice a week and such is the pain it causes she has to be medicated beforehand with oral morphine. Eating is a slow and often painful process.

There is a heart-breaking stoicism about Isla as she pulls back her clothes to show her mum where the blisters are today and opens her mouth to reveal several on her tongue.

All her skin is infected but some bits are worse. Her feet, which were stripped when she was born, have never not been bandaged which means she has problems with her balance. Itching is a big problem and Isla is now crying as she pulls off a large flap of skin on her wrist because the area is so itchy.

"Some days there might be two blisters, some days there might be 20, but generally we have to be careful how we hold her," explains Rachael. "If she's playing with other kids, they are all aware not to knock her or push her because her balance isn't brilliant and falling is a big issue."

Isla goes to nursery three mornings a week, which she loves, and will soon join her sister Emily at the adjoining primary school.

Rachael tries to strike a balance between fun times and medical chores. "I don't know how I could cope if life was just about hospital visits and bandage changing. Life goes on and we've still got all the other things to do and we don't want to get too caught up."

When Isla was born Andy and Rachael were put in touch with Debra, the national charity working on behalf of people with EB. Debra sent of one their social care managers to help fill out forms for disability benefit forms. Andy was posted to RAF Kinloss when Isla was three months old, and they were introduced to Pippa McCartney, the EB specialist nurse for Scotland, who is employed by Debra. Pippa helped coordinate moving Isla's medical support from Lancashire to Inverness and continues to visit the family every month.

"I can't imagine life without Debra," says Rachael. "I suppose we would have muddled on as best we could but we wouldn't necessarily be using the best bandages or know how to hold Isla or protect her skin. If we've got a problem we can just phone them up and ask. They are always coming up with different advice and suggestions."

Both Andy and Rachael are keen at sports and together have raised thousands for Debra. "Initially the fund-raising gave us a channel for overcoming the helpless feeling," says Andy. "When it's happening you don't really know what to do, you're not in control, so by undertaking fund-raising you grab an element of control back. You say; 'Right I'm doing something constructive, I'm raising money to allow the doctors and professionals to look for a cure and provide treatment'. Psychologically, for us, it was useful to raise £20,000."

Although there are very few children in the north of Scotland with the same type of EB as Isla, through Debra the Grists have made contact with them. There were two girls in the Aberdeen area who were both 12 years older than Isla. Both have now passed away.

Rachael still keeps in touch with the mother of one of the girls. "She was coming up for her 14th birthday [when she passed away]. It's not old and it will be here before we know it. We just hope there is more for Isla, but we just don't know.

"The illness was difficult to come to terms with and it still is. The end is going to come sooner than we would want and we've always got to come to terms with that. It is difficult because she is fantastic but we're aware that she's got a limited life expectancy and it's difficult sometimes just to keep on top of that emotionally. But I'm very much a day-by-day kind of person and I think we'll just enjoy now, we'll just have fun now, and not think too much about tomorrow."

But sometimes it's hard to stay positive. "It's the family stuff that, as she becomes older and becomes less able to do, is upsetting. Things like cycle rides and the big walks. We really feel remorseful in many respects, that we can't lead that normal life that other families lead. I suppose that was the picture I had in my mind about what we would be doing as a family."

"You have to throw away your life plan," says Andy. "Having a kid with a terminal or life-limiting condition makes you think about things differently." He plans to leave the RAF this summer and re-train as a teacher or nurse. He is keen for Isla not to have to start all over again, in terms of both medical care and friendships, every time the family was relocated with his work. "The key reason about not moving is the continuity that Isla gets so that she is no longer the weird kid with funny shoes and funny skin. It's Isla and they all know her."

Becoming a father to Isla has altered his outlook on life, he says. "Although on the face of it, it's not a good outcome, it can be a very good outcome in other ways. You think, I'll stop planning for retirement; I'll stop planning for next year; I'll stop thinking about what happened yesterday and I'll stop thinking about what might happen tomorrow. I'll start enjoying what's happening now and enjoying it and everything just becomes a bit more intense and real."

www.debra.org.uk; DebRA Scotland, 01698 424210.