Evan, a transition year student, has a form of EBS, or epidermolysis bullosa simplex, a rare genetic condition which causes the skin to be extremely fragile. It leads to painful blisters and sores as a result of even minor friction to the skin.
'EB gets in the way of simple, everyday tasks such as walking and wearing shoes’, Evan explains.
He gets around by cycling as much as possible and he has a very positive outlook, despite the constant pain he is in. Evan volunteers his time and acts as Youth Ambassador for the national charity DEBRA Ireland. DEBRA Ireland provides patient support services and drives research into treatments and cures for those living with EB.
On a national level, Rare Disease Day is being widely promoted by GRDO, the Genetic and Rare Disorders Organisation. GRDO act as the national rare disease patient alliance in Ireland and helped to coordinate the rare disease video. Together with GRDO and other Irish organisations representing rare disease patients, DEBRA Ireland is calling for the establishment of a National Office for Rare Diseases. This office would act as a focal point for patients and all involved in their care, facilitating faster diagnosis, access to better information and improved medical care.