Through consultation with families affected by rare disorders, RehabCare’s research examined the social support needs of individuals and families affected by rare disorders on the island of Ireland.
A rare disorder is classified as affecting five or fewer people in every 10,000 and it is estimated that between 5,000 and 7,000 rare disorders exist, the vast majority affecting children. Some of the better-known rare disorders include Prader Willi Syndrome, Williams Syndrome, Cornelia de Lange and Fragile X.
The research found severe deficits in the information available to health professionals and found that a centre of excellence on rare disorders would offer a key support service to GPs and other front-line health professionals by providing them with vital information for their medical teams, as well as for patients and their families. The research also highlights the need for a centralised information service to minimise the risk of families who experience rare disorders accessing worst-case scenarios, inaccurate and out-of-date information and feeling overwhelmed as a result.