Wednesday, 20 March 2013

Born With Too Much Skin.



   Harlequin ichthyosis is a rare genetic disorder which is painful and incurable, and carries a constant threat of infection. Research shows that this genetic disorder makes sufferers grow more skin in one day than a healthy person does in two weeks has identified a mutation which may lead to development of new treatments. People with this condition have to painfully exfoliate twice a day and live in a sterile environment, while many sufferers die within days of birth.


However, research led by Professor David Kelsell of St Bartholomew and the Royal London Hospital School of Medicine and Dentistry has identified a mutation in a gene known as ABCA12 as a major cause of the disease. It is hoped that the discovery will lead to new treatment options and the possibility of prenatal screening. 

Mr Clive Betts’s daughters Lucy and Hannah have this rare condition. 

According to a documentary shown on channel 5, Lucy and Hannah’s father Clive tells of his shock at his daughters' appearance at birth, saying that they looked "like something from space - like an alien", and admitting that he did not expect them to live. Their pediatrician  Professor John Harper, feels similarly, saying that “sufferers of the rare condition are just not compatible with living."

But with constant exfoliation of the skin and sterilization of the environment, children with this rare condition are turning into beautiful teenagers.

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