Background: Approximately 8% of the Australian population live with any one of about 10,000 known rare diseases. This is similar to the proportion of people living with diabetes or asthma.
Objective: The aim of this article is to review the impact of rare diseases on families and health services, and the role of the general practitioner (GP) and policy response in Australia.
Discussion: Research from the Australian Paediatric Surveillance Unit indicates that people living with rare diseases face significant challenges, including diagnostic delays, lack of available treatment and difficulty in finding the right health service. Families feel isolated, under-supported, and often face economic hardship. All GPs see people with rare diseases and have a crucial role in making appropriate referrals, coordinating care, supporting families, and linking them with psychosocial and other supports. GPs require access to current, relevant resources to assist them to help patients with rare diseases. A coordinated national approach to rare diseases is also needed in Australia.