Currently, there are about 100 families in the whole of Malaysia who are affected by epidermolysis bullosa (EB), said Dr Sabeera Begum, consultant paediatric dermatologist at the Institute of Paediatrics in Hospital Kuala Lumpur.
“I use the word ‘families’ because this condition is genetic. It runs in the family and some people are not even aware that they are carriers of this gene.
“Sometimes the disease skips a generation or two,” she said.
EB is a rare condition whereby the skin blisters and tears at the slightest touch.
Dr Sabeera explained that there are different types of EB: simplex, junctional, dystrophic, and some would consider Kindler Syndrome to be the fourth type.
The type of EB depends on how deeply the skin blisters penetrate, and each classification has a number of sub-types under it.
“Currently there is no cure for the condition. Some have done genetic studies, gene therapy, bone marrow therapy, stem cell therapy, but these are all in the experimental stages.
“The Debra organisation is actively doing a lot of research to hunt for a cure,” she said.
The Debra organisation provides information, research funding and support for all forms of EB, with national groups in over 40 countries.
Dr Sabeera explained that although it is a skin disease, EB is a complex condition which has a lot of complications.
“Patients may get chronic wounds and non-healing ulcers. They may get broken skin, sores, and they’re always in a lot of pain.”
She explained that it is not just the outer skin that is affected.
“We have skin in other parts of the body, like the lining of our eyes, the lining of our oral cavity, lining of our internal organs.
“Some suffer from malnutrition as they have blisters in the lining of the gastrointestinal tract.
“Because of the blisters in their tract, they suffer from malabsorption of nutrients. And because they lack nutrients, they are then not strong enough to fight the blisters and wounds, so it becomes a vicious cycle.”
She added that because of a lack of nutrients, their physical growth is retarded and they have poor weight gain.
However, she said that their mental development is normal. Children with EB are on the same intelligence level as their peers.
“For now, the treatment is to reduce blister formation. The most important thing is educating parents to reduce the blisters and to properly nurse the wounds,” she said.
Dr Sabeera explained that a special type of dressing is needed to bandage the wounds so that the skin would not be torn further when the dressing is taken off. “The blisters can be very bad. When they dry up they tend to stick to the dressing, so it’s going to be very painful to take off and they may tear the skin further.
“So special dressing is needed, which is quite pricey. This process of dressing the wounds is also not very straightforward – you need at least an hour a day to just focus on the dressing and you need an extra pair of hands to assist you.”
According to Dr Sabeera, the life expectancy of people with EB varies according to the type of the disease they have.
“We usually gather the patients for a Family Day event, which is organised by Debra. One of the patients is now 42 years old, a few others are in their late teens.
“But if the patients have a really severe condition, they won’t survive the first two years of their lives.”
Dr Sabeera also talked of the huge responsibility parents face in caring for a child with a rare disease such as EB.
For example, patients usually would have their follow-up appointments with their doctors every four to eight weeks.
“You need a lot of commitment from the parents, and they in turn need a lot of psychosocial support.
“We do send them for counselling. It’s also very important to get families together every few months, to get to know each other, and support each other, spiritually and emotionally,” she said. – Clarissa Chung
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