Identifying, managing and supporting patients with a rare disease

Abstract

Rare diseases (RDs) are defined as diseases that affect less than 1 in 2000 people, 71.9% are genetic and 69.9% have symptom onset in childhood. There are an estimated 8000 rare diseases, and although individually rare, collectively they are common, with a prevalence of 3.5–5.9%, similar to diseases such as asthma and diabetes. Although rare diseases may be considered the domain of specialists, the identification, management and support of ‘rare disease’ patients and their families falls within the competence of GPs.