Rare disease plan aims to provide better patient care

Patients face long waiting times for diagnoses and problems accessing treatment, Reilly says

Minister for Health James Reilly said people with rare diseases and their families were ‘often the leading experts’ and must be central to policymaking. Photograph: Alan Betson / The Irish Times

Minister for Health James Reilly said people with rare diseases and their families were ‘often the leading experts’ and must be central to policymaking. Photograph: Alan Betson / The Irish Times

Thu, Jul 3, 2014, 15:04

A new plan for the treatment of rare disease in Ireland should lead to faster diagnoses, improved access to care and better support for patients and their families, Minister for Health James Reilly has said.

The National Rare Disease Plan, published today, outlines proposals for a new clinical care programme specifically for the treatment of rare diseases, which affect an estimated 6 to 8 per cent of people in their lifetime. Illnesses which affect fewer than five people in every 10,000 are considered “rare diseases”, with about 8,000 identified in Ireland.

The plan also recommends the establishment of a dedicated national office for rare disease, to coordinate access to medical expertise and provide information to patients and medical practitioners about new treatments and clinical trials.

A system to provide residential care for children with rare diseases is also recommended, as well as the development of a rare disease research network to enhance the quality of research in Ireland.

The plan, which is to be implemented over the next five years, is the result of an European Council recommendation in 2009 for all member states to develop an action plan for the treatment of rare diseases.

Speaking at the publication of the report today, Mr Reilly said rare disease poses a particular challenge for a small country like Ireland, where particular conditions may affect a very small number of people.

“In comparison to more widespread conditions, there is a scarcity of relevant knowledge and expertise available to facilitate a swift diagnosis,” he said.

This plan marks “a significant step towards making this process shorter and less frustrating”, he added.

Thanking the various patient groups for their contribution to the Rare Disease Task Force, Mr Reilly said the patients themselves must be at the centre of the new policy.

“At the very centre of the research, the planning and decision making, is the patient. People living with a rare disease and their families, especially parents of young children, are often the leading experts in their diseases.”

Speaking on behalf of the patient groups involved, chief executive of Cystic Fibrosis Ireland, who chaired the task force, said the plan “offers a beacon of hope for the thousands of people in Ireland who are born with or who acquire a rare disease”.

He said however that the plan must be viewed as “a good start, not as a good finish”, and it was vital that services are adequately resourced if the aims are to be achieved.

National patient representative for rare disease on the Minister for Health’s steering group Tony Heffernan, whose second child died from Batten disease in May, said that while the report was welcome, there must be “an increased effort by the government to ensure that health system can provide appropriate care, support and understanding to those affected”.

“A policy is only as good as the result it produces; I will personally monitor measure and report on the effective rollout of the plan by the national stakeholders responsible for its implementation,” he added.

Chair of the Special Needs Parents Association Lorraine Dempsey called for better support and State funding for small organisations working with patients of rare diseases and their families.

“Many rare disease support groups function as the only support and information provider for a particular rare condition,” she said. “Over half are voluntary, and don’t necessarily meet criteria for funding… Fundraising should not be the key goal for these organisations.”

Mr Reilly said the plan had been drawn up with the cooperation of health authorities in Northern Ireland, and will be discussed further at a meeting tomorrow between himself and Northern Ireland health minister Edwin Poots.