The Minister for Health, Dr James Reilly launched the National Rare Disease Plan yesterday (Tuesday 3 July, 2014) . Among the plan’s key recommendations are that a rare disease research network be developed to enhance the quality and relevance of rare disease research in Ireland and the establishment of a National Clinical Programme for Rare Diseases.

“This is good news for patients with rare diseases and the people who care for them,” Minister Reilly told the launch. “The significance of this plan cannot be overstated because it provides us with a roadmap for the prevention, diagnosis and treatment of rare diseases. The key recommendations of the Rare Disease Plan include the creation of both a Clinical Care Programme and a National Office for Rare Diseases. A designated Clinical Care Programme for rare diseases will improve specialist services and allow for the development of a joined up model of care for patients.”

“Meanwhile, the principle functions proposed for the National Rare Diseases Office include the identification of Centres of Expertise for various rare diseases, providing a helpline function for patients and families, and the surveillance of national rare diseases.”

Centres of Expertise will provide expert care for rare disease patients. They bring together and co-ordinate, within the specialised healthcare sector, multi-disciplinary competencies and skills in order to service the specific medical, rehabilitation and palliative needs of rare diseases patients. These centres also provide education and training to health care professionals from all disciplines. They contribute to and provide accessible information adapted to the specific needs of patients and their families and of health and social professionals in collaboration with patient organisations.

“I fully endorse this plan as the means to positively shape how we look after people with rare diseases in Ireland”, concluded the Minister.

The key recommendations in the National Plan for Rare Diseases are:

• the establishment of a National Clinical Programme for Rare Diseases. A key role for this clinical programme will be the mapping, development and implementation of care pathways for rare diseases;

• the establishment of a National Office for Rare Diseases to facilitate the coordination and timely access to Centres of Expertise nationally and internationally, and to provide up-to-date information regarding new treatments and management options, including clinical trials;

• residential respite care be available for children with rare diseases;

• applications for the use of a fair and transparent means to access orphan medicines and technologies in hospitals through a national budget;

• the HSE and non-governmental organisations (NGOs) providing ongoing support for people living with rare diseases and that they cooperate and promote awareness of rare diseases;

• a rare disease research network be developed to, among other things, enhance the quality and relevance of rare disease research in Ireland;

• patient empowerment and the support of patient organisations the establishment of monitoring and reporting mechanisms on the rare disease plan in accordance with the reporting requirements under the national service plan and the EU key performance indicators on rare diseases.

 A copy of the National Rare Disease Plan for Ireland 2014-2018 can be found here