One in three sufferers of rare diseases receive wrong diagnosis

ONE third of Irish patients with rare diseases are given a wrong diagnosis and suffer serious unfounded medical interventions such as surgery and medicinal or psychological treatments, a survey has found.

The survey of 6,000 patients with rare diseases in 17 European countries found 25% of them waited five to 30 years between early symptoms and having the disease confirmed.

Before receiving the correct diagnosis, 40% were incorrectly diagnosed and others were given no diagnosis. This was the case for a quarter of the patients surveyed who had Marfan Syndrome and half of those surveyed who had Ehlers Danlos disease. There are an estimated 1,000 sufferers of Marfan Syndrome in Ireland, a genetic disorder which may effect the skeleton, lungs, eyes, heart and blood vessels. Sufferers tend to be exceptionally tall.