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What Is A Rare Disease?

A rare disease is any life-threatening or chronically debilitating disorder or condition which, as the name suggests, is uncommon in the general population. Rare diseases typically exhibit a high level of symptom complexity and as a result, they very frequently require special combined treatments.

Worldwide, 6,000 to 8,000 rare diseases have so far been identified, with new disorders diagnosed and described in the medical literature on a weekly basis. The actual prevalence of rare diseases can vary between populations, making it difficult to provide a precise numerical definition. However, a widely cited definition agreed and adopted by the 28 member countries of the European Union is that a rare disease is a specific, clinically serious disorder affecting fewer than 1 in 2000 people, i.e. less than 0.05% of the population.

On this basis, current conservative estimates indicate that approximately 6-8% of Australians are affected by a rare disease.

Some 80% of rare diseases are genetic in origin, with the age of onset of symptoms ranging from early childhood to adulthood. The diagnosis of a rare disease is often delayed because of their individual small numbers and complex nature.

Rare diseases include rare childhood cancers and other better known conditions both present from birth, such as Cystic Fibrosis and Phenylketonuria or, as with Huntington’s disease, with symptoms arising in adulthood.

For further information on specific rare diseases please see Orphanet, the portal for rare diseases and orphan drugs, or check the A-Z Rare Disease Patient Organisations List of all the RVA member patient organisations.