What is a rare disease?

A rare disease is sometimes referred to as an orphan disease, it is any disease that affects a small percentage of the population. In Europe a condition is considered rare when it affects less than one in 2,000 people.

Rare diseases are characterised by a broad diversity of disorders and symptoms that vary not only from disease to disease, but also from patient to patient affected by the same disease. These conditions are often chronic, progressive, degenerative, disabling and many can be life-threatening.

There are between 6,000 and 8,000 classified rare diseases, collectively affecting around 300.00 people in Ireland and 30 million people in the EU. Eighty per cent of rare diseases are genetic in origin and the majority have no effective cure. A high proportion of rare diseases, approximately 75%, present in childhood.

Common issues facing people and families living with any rare diseases include delayed diagnosis, inadequate access to appropriate care and medication, and feelings of isolation.