In 2004 Channel 4 aired a documentary called ‘The Boy Who’s Skin Fell Off’… The programme followed Epidermolysis Bullosa sufferer Jonny Kennedy. It was one of the most touching and saddening documentaries I had ever, and to this day, have ever seen. Despite the media coverage this film generated, I still feel that it is a charity less well known but in no way less deserving than others’. Therefore, I am delighted to be able to announce that DEBRA is our chosen charity and we hope to be able to offer our support for many years through fund raising events and donations.”
Should you wish to donate please see our Just Giving Page https://www.justgiving.com/Tiletec/
DEBRA is the national charity that supports individuals and families affected by Epidermolysis Bullosa (EB) – a painful genetic skin blistering condition which, in the worst cases, can be fatal. There are at least 5,000 people living with this devastating and currently incurable condition in the UK and 500,000 people worldwide.
There are three main types of EB: Simplex, Dystrophic and Junctional. These are defined by how deeply into the skin blistering occurs. Each type has multiple subtypes. In its least severe form, blistering is confined to the hands and feet but can still cause lifelong pain and disability. In more severe cases, the whole body is affected and wounds heal very slowly, giving rise to scarring, physical deformity and significant disability.
Blisters often have to be drained and dressed every day – a painful procedure which can take several hours. Excessive blistering creates scar tissue which can cause fingers and toes to fuse together, and could lead to an aggressive form of skin cancer. Blistering can also affect inner body linings, such as the mouth and throat and, in its most advanced form, EB is fatal in infancy. People with EB are often fighting infection, both internally and externally, which can prove impossible to overcome.
One in 227 of us carry a defective gene that causes EB. EB may be inherited in either a dominant (usually one parent carries a defective gene which results in EB, and is affected by the condition themselves) or a recessive form (both parents carry the gene but are usually unaffected themselves, so the birth of an affected child is totally unexpected). EB can also arise through a new spontaneous mutation whereby neither parent carries EB yet the gene mutates spontaneously in either the sperm or the egg before conception. In dominant EB there is a 50% chance of passing the condition to children, in recessive EB the chance is 25%.
Rarely, a severe form of EB can be ‘acquired’ as the result of autoimmune disease, whereby the body develops antibodies to its own tissue proteins.
DEBRA was founded in 1978 and provides an enhanced EB Healthcare Service, in partnership with the NHS, to deliver optimal healthcare to children and adults living with EB, community support staff to work directly with individuals and families providing information and advocacy in the face of red tape, support grants to help families with the day-to-day difficulties of living with EB as well as respite in the form of days out, events and the provision of specially adapted holiday homes.
The charity also provides real hope for the future by funding pioneering research to find effective treatments and, ultimately, a cure for EB.
For more information please visit www.debra.org.uk or telephone 01344 771961.