Margaret Webbresponds to Dr Paul Carson's article in Healthpluslast week, entitled A child's life of endless suffering
FOLLOWING ON from Dr Carson's article I feel that it is important to give an accurate and full explanation of the condition, effects and treatments of the rare genetic skin condition Epidermolysis Bullosa (EB).
EB is not an allergy, it is not contagious and it does not develop in adolescence. EB occurs when two parents both unknowingly pass on the faulty gene (Collagen type VII gene) to their unborn child at conception.
This results in the child being born without sufficient levels of this important gene which helps the skin layers adhere to one another and so the skin layers and internal body linings separate and blister at the slightest touch.
Any type of friction from simply turning over in bed, bumping into something or even swallowing food can cause trauma to the skin which can result in blisters and open wounds.
These blisters and wounds require lancing and bandaging on a daily basis to protect the skin from infection and further erosion.
This condition is very distressing, painful and unrelenting.
One in 227 of us carries this defective gene but it is only when we meet a partner who also carries this gene that a child may be born with EB.
There is a one in four chance of this couple having a child with EB. More than 500,000 people have EB worldwide.
There are three types of EB, the most common being EB Simplex or EB Dystrophic, with EB Junctional being generally fatal within the first two years of life.
EB Simplex often presents itself with symptoms similar in severity to eczema or psoriasis. Many people may have this condition, but yet have not been probably diagnosed.
EB Simplex mainly causes blistering of the hands and feet and generally is worse in warm weather but can be quite debilitating in some cases.
For those living with EB Dystrophic, life is more challenging depending on the percentage of collagen in their skin, but most people lead very full and rewarding lives.
Thanks to developments in the management of EB, increasing numbers of children are surviving into adulthood.
However, unfortunately EB Dystrophic patients are more likely to develop a very aggressive form of skin cancer in their early adulthood called Squamous Cell Carcinoma, which is a malignant skin tumour.
This can be life-threatening if not detected in time and life expectancy of adults can be cut dramatically short.
The development of treatments and cures for EB is going to require large amounts of medical research into a variety of possible treatment avenues.
In no cases are children living in Perspex cubicles or indeed spending the majority of their lives in hospital.
Indeed all medical experts on EB from Great Ormond Street, London and Our Lady's Children's Hospital, Crumlin advise parents in supporting a child with severe EB to lead as normal a life as possible which includes attending mainstream school, going to university and holding down full-time employment.
Debra Ireland is a national charity set up in 1988 to raise awareness of and offer support to patients and families living with EB.
Through the work of the charity and thanks to the generous contributions from the public, Debra Ireland funded the development of the EB Nurse Liaison Service in Our Lady's Children's Hospital Crumlin and St James's Hospital and continues to part-fund the service in Our Lady's.
It is also the second largest contributor to EB research worldwide.
Debra Ireland is currently funding research in four research centres: Trinity College Dublin; National University of Ireland Galway; Queen Mary's Hospital London; and Stanford University in the US.
This research is helping to deepen the understanding of EB and is making solid progress towards the development of therapies for the condition.
• For further information on Epidermolysis Bullosa log onto www.debraireland.org
• Margaret Webb is chief executive of Debra Ireland
Dr Paul Carson writes:
My piece accurately described one boy's management with severe Epidermolysis Bullosa (EB) in 1986.
Nowhere in the article did I say EB was an allergic or contagious condition.
While it is good to have any inaccuracies clarified, the thrust of the article was not about EB, rather attitudes to chronic illness, religion and the twists of life.