My health experience: Living with butterfly skin

Sisters Alison (12) and Erica Hyland (6) were both born with epidermolysis bullosa (EB), a severe rare genetic skin blistering condition. Their parents – Mark and Ger – had never heard of the condition before Alison was diagnosed as an infant.

The couple, from Swords, in Co Dublin, were told the girls would have to live a sedentary life because children born with EB have extremely fragile skin that blisters at the slightest touch. EB is also known as “butterfly skin”, because the skin is said to be as fragile as a butterfly’s wings.

Skin layers and internal body linings separate, leading to blistering, and the only treatment is constant bandaging to prevent infection. The condition affects one in 18,000 babies born in Ireland every year.

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Erica Hyland’s knee, showing the blistering caused by epidermolysis bullosa (EB). Photograph: Dave Meehan/The Irish Times

“When Alison was born she seemed perfectly healthy until about three weeks later when we noticed her toe was bleeding. Looking at it closely, we saw she had a blister so took her to our local GP, who prescribed some antibiotics.

“Initially this seemed to clear things up but then we noticed more blisters and wounds appearing on both of her feet. We thought she must have cut herself and kept looking for where it could have happened as she was so young and wasn’t moving around so we were baffled as to how she was getting the wounds.”

Dermatology referral

After initial treatment for impetigo, they were referred to the dermatology department of Temple Street hospital when the blisters kept re-appearing.

After a number of consultations and blood tests, the diagnosis was EB.

“We were told that Alison would have to live a sedentary life and were then referred to Crumlin children’s hospital, because it has a specialist EB section,” explains Mark. After more blood tests, the couple were told their daughter had recessive dystrophic EB – the most severe form.

“She was about six or seven months old at this point and we were totally shocked . . . but also determined that we’d do our best for Alison so she wouldn’t lead a sedentary life. We wanted to ensure she lived life to the full and not be treated differently.

"The nurses and doctors in Crumlin put us in touch with Debra Ireland who introduced us to other parents of EB children. That really helped us as they were going through similar experiences to us."

The couple were told that they both carried a gene which caused EB and there was a one-in-four chance that they would pass it on to another child. When Alison was five and coping well, they decided to try for a second baby.

Erica was born in March 2009 with no skin on the top of her right foot, so they knew straight away that she had same EB as Alison. The girls, now 12 and six, are in school in Holy Family National School. Alison is in sixth class and will be going to secondary school next year. Erica is in first class.

Daily bandaging

On a day-to-day basis, the girls’ feet, knees, elbows and fingers are bandaged because extremities suffer the worst from the condition. The main worry is in the playground where a fall can cause serious injuries. On occasion, Ger has been called to the school to apply a dressing.

“Not a day goes by without us having to bandage a wound or burst blisters with sterile needles,” says Mark. “Both girls suffer pain on a daily basis from all their wounds and blisters, and this is the hardest part for us as parents. It’s awful having to see the girls in pain.”

But, Mark says, the girls “live normal lives like other children. The school has been excellent in looking after both girls – they both have SNAs [special needs assistants] in their classroom to assist when needed.”

Alison plays keyboard and is a competent swimmer. As she is older, she can manage her injuries and bandaging herself. And while there are times when she can’t swim due to blistering, in general she copes well.

Erica runs around like any other six year old and generally has more injuries than Alison because of this. She is is also learning to swim and loves drama.

Neither of the girls can participate in impact sports, so activities such as GAA, football, basketball and tennis are ruled out.

“The girls can’t join running clubs or do gymnastics or athletics, or any activity with more chance of injury such as ice skating and roller skating, but otherwise they are doing well,” says Mark.

“My advice for parents who suspect their baby may have EB is to wait for proper diagnosis. Don’t look EB up the internet as it may be very frightening and overwhelming, it’s better to get advice and information from the EB team.”

About Epidermolysis bullosa (EB)

• Epidermolysis bullosa (EB) is a genetic skin condition which causes the skin layers and internal body linings to separate. It causes a breakdown in the natural proteins which hold the skin together. In people with EB, the two skin layers lack the anchors that hold them together, and any action that creates friction between the layers (like rubbing or pressure) will create blisters and painful sores.
• The slightest touch can cause severe pain, blistering and sores.
• The skin blisters have to be lanced and dressed.
• There are 300 people living with EB in Ireland.
• EB is genetic and classified as a rare disease.
• Over the past 15-20 years, 13 major genes responsible for the majority of cases of EB have been identified.
• Butterfly children is a term often used to describe younger patients with EB because their skin is said to be as fragile as a butterfly's wings. Sometimes, children with the condition are also described as Cotton Wool Babies. And in South America, Crystal Skin Children is the term used.
• An estimated one in 18,000 babies born in Ireland is affected by EB with more than 500,000 sufferers worldwide.
• EB is passed from parent to child.
• EB is incurable and the only treatment is constant bandaging of the skin to prevent infection.
• Debra Ireland is the only charity in Ireland dedicated to supporting families affected by EB. The eighth annual Debra Ireland Wicklow Mountains Half Marathon and 10km takes place on Sunday, March 13th, and is open to both professional and amateur participants. Funds raised will help provide services to those affected by EB.
• See debraireland.org