Call for national plan for rare diseases

IRELAND NEEDS a national plan for dealing with rare diseases that affect about 140,000 people here.

That’s according to a recommendation adopted last week by the EU Council of Health Ministers, which calls for concerted action across Europe to code rare diseases, enhance research, identify centres of expertise and involve patients in policy decisions.

“With rare diseases the voice can be very small, sometimes because of the nature of the condition,” according to Avril Daly, head of public affairs at Fighting Blindness and chairwoman of the patient-driven Genetic and Rare Disorders Organisation (GRDO), which lobbied for the European strategy to be adopted.

“But the reality is that it’s not rare to have a rare disorder – there are between 6,000 and 8,000 of them, and 6-8 per cent of the population is, or will be, affected by a rare disease in their lifetime.” These include more familiar conditions such as cystic fibrosis, muscular dystrophy, childhood cancers and Huntington’s disease as well as lesser-known disorders such as cystinosis and retinitis pigmentosa, explained Ms Daly.

The adopted strategy recommends that all EU member states should have a national plan for rare diseases in place by 2013, but France and Denmark have been implementing their plans for several years, she noted.

“In those countries there has been huge economic benefit to the country, people have been getting access to therapies faster and there has been more investment into research into rare disorders.”

The new EU-wide strategy will also identify and link centres with expertise in rare conditions.

It’s a welcome move, according to Ms Daly, who pointed out that patients here can sometimes undergo time-consuming, costly and unnecessary interventions when they present with symptoms of a rare disease.

“If we had a centre of excellence here or in another country in Europe, where the patient could be referred to, this could be dealt with very quickly.

“Not only would you be saving money, but the patient themselves wouldn’t have to go through this process,” Ms Daly said.

She added that GRDO now wanted to work with the Government to implement an Irish national plan as soon as possible.