Butterfly Skin is a beautiful name for an horrific disease that can lead to an aggressive cancer. Even a hug can be painful,reports.
THIS,” says Deirdre Callis, bluntly, “is the worst disease you’ve never heard of.” Callis is talking about Butterfly Skin, or epidermolysis bullosa, an excruciatingly painful and distressing condition. It causes the skin and internal body linings to blister and tear at the slightest touch. Patients with a severe form of the condition are susceptible to a very aggressive form of skin cancer, from as early as their teenage years.
Callis knows just how awful EB can be — she’s had years of experience of this horrific genetic condition, in her capacity as family support manager (she was formerly a family support worker) with Debra Ireland, the organisation which provides patient support and drives research into the condition.
“Essentially, the skin is a barrier to the outside world. When a baby is born with EB, that barrier doesn’t work, so the child is susceptible to infection and disease, and also to damage from being picked up and hugged.
“The people who love and who care for the babies can, unknowingly, pick up or hug a child in a way that causes damage, such as blistering or damage to the skin on a new-born baby. This is hugely upsetting for many new parents,” says Callis (42), who says that most parents have never heard of EB until their child is born with it.
EB, which is caused by a fault in one of a number of genes responsible for holding the layers of skin together, varies from debilitating to devastating. Some forms are so severe that babies do not survive and others result in dramatically reduced life span.
It’s very rare — affecting only about 1 in 18,000 babies, or 300 people, in Ireland — but so catastrophic is its impact, says Callis, that it can tear families apart.
“It’s very complex, and it has a huge impact on relationships and on families. It’s very hard for new mothers to realise that every time you lift your baby, you could be potentially causing damage.” For any new mum, things can be difficult, but, as Callis says, “knowing that every time you lift your baby, you hurt it so much, is a huge stressor.” When an EB baby is born in an ordinary maternity hospital, the condition is so rare, she says, that, nine times out of 10, doctors will have had no previous experience of it.
However, once it is — usually very quickly — diagnosed, the baby is sent to a special paediatric EB unit in Our Lady’s Children’s Hospital in Crumlin (the service for adult EB sufferers is located in St James Hospital). A biopsy is carried out and the diagnosis confirmed, after which, depending on the severity of the condition, the baby will spend up to six weeks in the specialist unit.
“The Crumlin care team usually advises the family to get in touch with Debra Ireland,” says Callis, who lives in Dublin, but is a native of the Cork suburb of Togher.
“At that point, either myself or a colleague will meet the family in hospital.
“People are often desperately upset,” she says, adding that when the Debra Ireland support workers arrive, they’re usually greeted by two reactions.
“There’s enormous relief, because we know about this condition and are familiar with it.
“However, also, it can be very upsetting, because meeting me or my colleague is an acknowledgement that your baby has this terrible disease.
“I’ve walked into Crumlin and seen a beautiful baby bandaged head to toe with only its face showing, and with wounds on the face where the blisters have been.
“It can be harrowing and the parents are very upset.
“It’s like a deep sadness; you can taste it. You can literally feel the grief hanging in the air.
“We usually see the babies in the first six weeks of life and, on the part of the parents, there is huge relief, but also sadness,” says Callis, who travels to families all over Ireland from the organisation’s Dublin base — there are sufferers in almost every county.
“We get into the car and go to the house, whether it’s in Valentia Island or in Derry.
“I live in my car; most of any working week is based around home visits anywhere”.
In consultation with hospital staff and parents, the organisation provides a diverse range of free equipment and supports, including special baby packs with silk-covered pads or pillows, which minimise damage to the baby’s skin and enable them to be — very carefully — lifted.
“Depending on what the hospital staff recommend, we source everything from special pillowcases to seamless babygros or sheepskin liners for buggies. It’s all free to parents, from Debra Ireland.
“We also help organise nursing care, if needed, and we have provided funding for the provision of nursing care,” Callis says.
This is crucial — every second day, an EB child has to endure four hours of excruciatingly painful dressing changes.
“Imagine having no skin on your body and the bandage that acts as the skin having to be removed, head to toe, every day,” Callis says.
Unsurprisingly, the organisation fund-raises exhaustively; one of its most important events is the forthcoming three-day Kerry Challenge, a daily, 25-kilometre run walk or hike, which involves up to 100 participants and takes place in Dingle, Co Kerry, between May 18 and 20.
Many of the participants have been regularly involved for years, says Judith Gilsenan, Debra Ireland’s head of fundraising and marketing, often because they’ve come to know families with EB.
“Every year, an EB family will join the participants at the hotel. People hear, first-hand, what it’s like to live with EB.
“It really hammers home the importance of the fundraising event and the fact that the blisters you get from hillwalking will fade, but the blisters you get from EB never will.” Importantly, says Callis, Debra Ireland also provides much-needed emotional support — the organisation remains in touch with families whose babies have died as a result of the condition.
Debra Ireland holds a memorial service every two years and, if families desire it, will put them in touch with other parents of EB children.
“We believe there is a cure out there and that it will be found and we will champion that to the last breath in our bodies. Until that cure is found, we will be the support for these families,” Callis says.
*To register or to find out more about Debra Ireland’s Kerry Challenge, May 18-20, see www.debraireland.org; email firstname.lastname@example.org or email@example.com, or call (01) 412 6924.
*To donate money to Debra Ireland: Text BUTTERFLY to 50300 to donate €4