My Skin Could Kill Me
Harlequin Ichthyosis is a very rare, incurable, genetic skin condition. In it, the skin grows far faster than normal. The whole body becomes completely encased in a very thickened, scaly suit of skin armour. The skin becomes very tight causing restriction of movement of the arms and legs and, particularly, the fingers and toes. The face is deformed, the eyelids are inverted, the ears are bound down, and the mouth is very tight.
Lucy Betts, at eighteen years old, is the oldest surviving harlequin ichthyosis sufferer in Britain. Her survival is down to a life-saving ritual of scrubbing, bathing and creaming to keep the skin growth under control. Correction: apparently Nusrit "Nelly" Shaheem, born 1984, is older.
Harlequin ichthyosis only occurs when both parents carry the same defective gene, the chances of this are one in a million. However, the chance of these parents producing a harlequin child are 1 in 4. Despite these odds, the Betts chose to have a second child. Sadly they could not defy the odds and Hannah was born, also with harlequin ichthyosis but with the added complication that she also has cerebral palsy.
Overnight, Lucy and Hannah's bodies grow as much skin as a normal body would grow in 14 days. Every morning and every night they have to bathe for up to 2 hours. The top layers of excess skin have to be rubbed off and softened with skin cream to prevent it cracking and causing infection. This can be a very painful process which the girls have undergone since birth. Between them, Hannah and Lucy use one 12kg tub of skin cream every 5 days.
The condition has affected Lucy's sight leaving her blind in one eye with only 10% vision in the other. This has been caused by the flaking skin behind the eyelid which scratches the cornea.
For years, the Betts believed they were the only harlequin family in Britain, but when Lucy was ten, they found out to the contrary.
The Bowen family gave birth to Dana who has the harlequin skin condition, they too chose to ignore the odds and have a second child. Lara was born with the same dreadful skin condition.
Dr David Atherton a consultant paediatric dermatologist says: "Most children with harlequin ichthyosis die within a few days of birth. The first big problem they have is massive fluid loss. The main purpose of skin is to keep liquid in th body so many, in the past, died of renal failure in infancy."
Dana Bowen was unfortunate, the skin on her fingers and toes was extremely tight, early on, and interfered with the blood flow so she has lost the tips of several of her fingers.
Eight years after their first meeting, the harlequin families come together again. There has been a medical breakthrough and for the first time the families have been given hope of a possible cure.
Lucy looking every bit the young Woman
All four girls have been involved in a world-wide research project. Last year they supplied DNA samples for analysis, and now the results are due to be released. Scientists have managed to identify the harlequin gene and identified a defective protein in all of the girls. They believe a fat can be added to the skin cream they use to compensate for the defective protein and slow the skin growth.
They also revealed that both families share the same genetic mutation meaning that, in the distant past, they are related.