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.

Approximately 800 Irish people have Ehlers Danlos Syndrome, a genetic disease characterised by skin fragility and loose joints, varying from mild instances to life-threatening.

The European Organisation for Rare Diseases (Eurordis) survey, the most extensive ever conducted on diagnostic delays of rare diseases, found incorrect diagnosis led to medical interventions including surgery for 16% of patients, medicinal treatment for 33%, and psychological care for 10%.

The survey also found:

* 25% of patients needed to travel to a different region to obtain the diagnosis, and 2% needed to travel to a different country.

* The diagnosis was announced in unsatisfactory conditions in 33% of cases, and in unacceptable ones in 12.5% of cases.

* Patients or family were not told of the genetic nature of the disease in 25% of cases. This is paradoxical, given the genetic origin of 80% of rare diseases.

* Genetic counselling existed only in 50% of cases.

* In only 40% of cases, an effort was made to discuss the diagnosis and the genetic risk but 80% of patients or their parents spontaneously engaged a debate in the family to help diagnosing or preventing other cases, and when this happened, it helped diagnosing others in 30% of cases.

Eurordis chief executive Yann Le Cam said rare diseases have to be tackled at European level due to the “relatively small number of people affected by each disease nationally and the limited number of researchers who work on the pathologies.”

Eurodis president Terkel Andersen said healthcare systems across Europe are mainly unable to deal with rare diseases. Results will be presented today at the European Conference on Rare Diseases in Luxembourg.

Eurodis, which represents over 225 rare disease associations in 23 countries, is calling for a co-ordinated European policy to include provisions for Crohn’s Syndrome, cystic fibrosis, Duchenne Muscular Dystrophy, Ehlers Danlos, Fragile X, Marfan Syndrome, Prader Willi Syndrome, and tuberous sclerosis.