Rare diseases need a generic approach

doi:10.1136/bmj.333.7568.602-a

BMJ 2006;333:602 (16 September), doi:10.1136/bmj.333.7568.602-a

Letter

Rare diseases need a generic approach

The first 150 words of the full text of this article appear below.

EDITOR—Dunkelberg describes the experience of lookingafter her child with a rare disease and an unknown diagnosis.¹These experiences are all too common in people with rare diseaseand their families. A survey by the European Organisation forRare Diseases (Eurordis) in 2005 showed that 25% of people withone of eight rare diseases experienced delayed diagnosis.² Fortyfive per cent had their diagnosis communicated unsatisfactorily,and common problems were experienced by patients with diversediagnoses. It also estimates that 6-8% of people in Europe havea rare disease.³

Anecdotally, general practitioners are known to see people withrare diseases often,⁴ but there is no published informationabout the role of primary care in rare diseases. A generic approachis needed to people with rare disease that will avoid some ofthe problems commonly experienced by patients. We welcome commentson our proposed outline⁵ and how the common . . . [Full text of this article]

Timothy P Senior, medical educator¹, Andrew W Knight, consultant medical educator²

¹ tim.senior@wentwest.com, ² WentWest, 20 Wentworth Street, Parramatta, NSW 2150, Australia