Imprisoned by pain

By Kiundu Waweru

Watching the documentary The Butterfly Children is a tearful experience. The film kicks off at a birthday party of Colley, who has just clicked 14. Colley’s body is covered in bandages and he sits on a wheelchair. Colley’s mother never dreamt that her son would live to see this day.

Colley Alex and his sister Brandi suffer from Epidermolysis Bullosa (EB), the most painful genetic skin disorder known to human kind. Children suffering from this disorder are known as butterfly children as their skin is as fragile as the wings of a butterfly.

In the documentary, Dr Alfred Lane of Stanford University, USA explains that while in the uterus, the skin is protected but upon birth, simple acts like putting a diaper leaves the child with big painful blisters.

"EB can be very severe and 99 per cent of the children die within their first year," he says.

Asked where he has sores, Colley, coolly and stoically points to most of his bandaged body saying, "here, here, here…"

The slightest touch, rub or knock causes the skin and the internal linings of sufferers to blister, resulting in painful open wounds.

In another film, My Shocking Story, siblings Sarah — now deceased — and Joshua Thurmond also suffer from the rare genetic skin condition. Sarah died aged 20.

The documentary filmed in their home in Detroit, US, when they were teenagers, showcases the siblings’ struggle of learning to live with the severe pain and the time-consuming practice of wound care and bandage wrapping. My Shocking Story shows Sarah and Joshua constantly visiting the hospital and also receiving home medical care; and bravely trying to live a normal life.

This involves getting up at 3.45am every morning to cover open wounds with bandages and getting to school on time, while trying concentrate in class amid constant pain. There is no cure available for EB, with the numerous skin therapies having failed. Consequently, the children grow with another type of pain, the emotional pain of knowing that they are different.

In the Butterfly Children documentary, Colley says that a couple of times, he feels life is too hard and it would be "cool" to be with the angels. In their study rooms, a painting of winged creatures seem to peacefully flutter from the walls. Brandi, Colley’s sister, says she painted it for her brother; "That picture is the angels. I think that is what angels looks like in heaven." Brandi then adds, "I think heaven is beautiful, like butterflies."

In 1991 Gary and Lynn Fechser Anderson established EB Medical Research Foundation that strives to find a cure for the disease.

Both their children, Chuck and Christine, died of EB. Due to the rareness of the disease, there has been little research in EB, but with corporate sponsorship, the EBMRF is making inroads. Dr Alfred Lane, Professor and Chair, Department of Dermatology at Stanford University, is leading the research that involves transferring a new gene into a cell. It has been discovered that type VII collagen gene is the weak link in a chain of genes that holds the skin together.

Thus, the research plans on replacing the correct type VII collagen gene into the cells of EB patients who do not make effective type VII collagen.

They have already done research on a mouse model and Dr Lane says the results are exciting. "The future looks bright for the patients who have been sentenced to a life of pain by EB," says Dr Lane.