Rare diseases need a generic approach

Editor—Dunkelberg describes the experience of looking after her child with a rare disease and an unknown diagnosis.¹ These experiences are all too common in people with rare disease and their families. A survey by the European Organisation for Rare Diseases (Eurordis) in 2005 showed that 25% of people with one of eight rare diseases experienced delayed diagnosis.² Forty five per cent had their diagnosis communicated unsatisfactorily, and common problems were experienced by patients with diverse diagnoses. It also estimates that 6-8% of people in Europe have a rare disease.³

Anecdotally, general practitioners are known to see people with rare diseases often,⁴ but there is no published information about the role of primary care in rare diseases. A generic approach is needed to people with rare disease that will avoid some of the problems commonly experienced by patients. We welcome comments on our proposed outline⁵ and how the common problem of rare disease should be managed in general practice. It's time for a discussion to start.