MORE THAN A quarter of a million people in Ireland have a rare health condition, according to an umbrella group representing patients.

Sufferers often find it difficult to access proper care and advice on their conditions, with many turning to the internet as a source of information, the Genetic and Rare Disorders Organisation said.

As Europe marks Rare Disease Day today, the GRDO has called on the Government to establish a national Rare Disease Office to co-ordinate care for patients. It has released a video featuring eight Irish sufferers, aged from 8 to 53.

“The lack of clearly defined healthcare pathways for those affected  puts this already
marginalised group of people at even greater disadvantage,” said GRDO chair Avril Daly.

The GRDO represents individuals with a range of unusual disorders, including genetic condition 22Q11, connective tissue disorder Marfan syndrome, Batten’s disease, and the inherited condition Alpha-1.

It also covers more well-known conditions such as haemophilia and cystic fibrosis, and estimates that six to eight per cent of Irish people – or around 270,000 – suffer a rare condition.

‘It’s literally a handful of people’

GRDO spokesperson Kathy Tynan said the organisation was set up to give people with rare conditions a voice. “In some cases they would have small support groups,” she said. “But a lot would have no support group at all because it’s literally a handful of people in Ireland.”

A survey of people with rare disorders carried out by the group showed that almost one in seven had waited more than 10 years for a diagnosis, while 37 per cent got a wrong diagnosis initially. More than 60 per cent said the internet was their main source of information on their condition.

A National Rare Disease Office would help make healthcare more efficient and save money by reducing the time spent shuttling patients between doctors, Daly said, adding:

Providing high quality services to rare disease patients in a cohesive way through a central office can be cost-effective and will lead to better management of services and, most importantly, better outcomes for patients and their families.

A 60-second video produced to mark the day across Europe was filmed in Ireland, and features eight Irish people with rare conditions. The project aims to raise awareness of these rare disorders:

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