Launch Of Ireland's First National Plan For Rare Disease

Minister Reilly launches National Rare Disease Plan for Ireland 2014-2018

The Minister for Health, Dr James Reilly TD, today launched the National Rare Disease Plan for Ireland 2014-2018. The key recommendations include creating both a Clinical Care Programme and a National Office for Rare Diseases.

“This is good news for patients with rare diseases and the people who care for them. 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”, said the Minister.

The National Rare Diseases Office will identify Centres of Expertise for various rare diseases, provide a helpline function for patients and families and provide 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.

The Minister explained that the plan is vital because there are 8,000 different rare diseases in Ireland and it can be very difficult for patients to get a diagnosis and treatment, saying that the plan looked at “how to shorten that journey and reduce the frustrations that people experience trying to get a diagnosis, and then indeed organising the treatments”.

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

Avril Daly, CEO Fighting Blindness, Chair of GRDO (Genetic and Rrae Disorders Organisation) and Vice President of EURORDIS (European Rare Disease Organisation), commented on the launch of the plan saying: “On behalf of people living with a rare disease in Ireland, young and older, their families and carers, GRDO welcomes the publication of the National Rare Disease Plan today. This along with other key appointments such as a Clinical Programme for Rare Diseases is vital to improve the quality of life for our community. So much distress has been caused to families through a lack of information and unnecessary delays in receiving an accurate diagnosis, leading to feelings of isolation and frustration that small voices are not heard. A key issue highlighted by patients and medical professionals throughout the extensive consultation process is the need for a National Office for Rare Diseases. This will act as central point for information to all stakeholders, it will allow access to information on appropriate medical intervention, support services, available therapies, research and clinical trials. GRDO was established in 1988, by organisations including Fighting Blindness, to act as an umbrella group run by patients and their representatives who volunteer their time to be a voice for and provide support to the Rare Disease community. With more patients diagnosed with rare and ultra-rare conditions, now more than ever, organisations like GRDO need to be supported. We greatly look forward to this and other elements of the Rare Disease Plan being provided for in the HSE’s budget for next year”.

The key recommendations in the National Rare Disease Plan 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.

You can download a copy of the National Rare Disease Plan for Ireland 2014-2018 here.

Read about some of the milestones that paved the way for the publication of the National Rare Disease Plan here.