A National Rare Disease Plan for Ireland (2014 – 2018) was launched by the Minister for Health in July 2014. This is a generic policy framework for rare diseases. The scope of the plan is broad given that there are approximately 8,000 rare diseases affecting millions of EU citizens; and consequently, there can be a dearth of expertise and knowledge about some rare diseases, simply because they are so rare.
Many of the major recommendations of the plan have already been implemented and in December 2013 the National Clinical Programme for Rare Diseases was established as a joint initiative between the HSE and the Royal College of Physicians of Ireland. A Clinical Advisory Group was established to oversee the programme, a Clinical Lead and Programme Manager were appointed, and a multidisciplinary National Working Group was established to provide support to the programme workstreams and the National Plan was firmly embedded in the Programme.
The opening of the National Rare Disease Office, (NRDO) in 2015 was a significant milestone for people living with a rare disease, their families and their healthcare professionals. Prof Eileen Treacy is the Director of the National Rare Diseases Office, whose purpose it is to provide current and reliable information about genetic and rare diseases to patients, families and healthcare professionals.
On foot of the HSE Chief Clinical Officer’s (CCO), review of all the national clinical programmes in April 2019, it was recommended that the National Clinical Programme for Rare Diseases be operationalised and incorporated into the National Rare Disease Office. From 01 September 2020, the NRDO will be the main contact point and driver for national HSE rare disease projects and initiatives. The work of the NRDO will be overseen and governed by HSE Acute Operations. This means that the National Clinical Programme for Rare Diseases will be wound down and any outstanding projects will be transferred to the NRDO.
Building on the significant progress to date, themes for inclusion in a roadmap for the coming period have been agreed with the Rare Disease Task Force, which comprises the main rare disease advocacy groups; Rare Disease Ireland, the Medical Research Charities Group (MRCP), and the Irish Platform for Patient Organisations, Science and Industry (IPPPOSI). Meetings, to ensure that the input and the voice of the patient is represented in the continuing work ongoing in relation to Rare Diseases will continue to take place with the Rare Disease Task Force, the HSE and the Rare Disease Office.
A number of key themes have now been identified for progression in the coming period, including: Patient Awareness; European Reference Networks; Research & Registries; Access to Services; Access to Medicines; Diagnosis; Education & Training and Legislation & Policy. This will form the basis for work in this area in the time ahead.
As the Deputy will appreciate, it would not be appropriate to discuss the details of the individual case which he mentions but I can confirm that I am in communication with the person concerned and that their case is under the care of appropriate clinical expertise.