Thomas Byrne (Meath East, Fianna Fail) | Oireachtas source

Gabhaim buíochas leis an Teachta as an t-ábhar seo a ardú anocht. I think all of us fully appreciate how devastating a diagnosis of a rare disease can be for patients, families, and carers. I believe that there is cross-party support for doing everything we can to help patients who live with these conditions on a daily basis.

In February, on Rare Diseases Day, the Minister for Health announced a plan to develop a revised national rare disease plan, in line with the commitment in the programme for Government. Initial work for the new plan has commenced and a steering group to progress the new plan is being convened next week to begin to develop a successor to the previous national rare disease plan. The development of a successor plan will allow the steering group to consider areas of the previous plan that need to be further progressed, while also looking to the future needs of those patients and families living with a rare disease diagnosis.

An update on the current state of each of the 48 recommendations in the National Rare Diseases Plan 2014-2018 has been completed by the Department of Health. While a number of areas for improvement remain, various actions have been implemented from the 2014-2018 plan and significant resources invested in this area in recent years. Principal among those actions was the establishment of the national rare disease office, NRDO. The NRDO is the national rare disease co-ordination hub and the HSE's main contact and driver of rare disease initiatives and projects. The NRDO is committed to informing, supporting and empowering people affected by rare conditions, their families, caregivers and healthcare professionals.

The HSE national clinical programme for rare diseases published the HSE Model of Care for Transition from Paediatric to Adult Healthcare Providers in Rare Diseases in 2018 and the Model of Care for Rare Diseases in 2019. The work of the national clinical programme for rare diseases has now been mainstreamed into standard operations under the NRDO.

Furthermore, last year, the HSE was nominated as the national competent authority in an EU Joint Action of European Reference Networks for Rare Diseases, which enables greater co-ordination and sharing of best practices in key areas such as genetic testing. As a result of this collaboration, Ireland is now a member of 18 European reference networks, ERNs, on rare diseases. These ERNs include representation from five academic hospitals and three universities and are co-ordinated by the national rare disease office.

In terms of medicines for rare diseases, the Minister for Health during his term of office has significantly increased the level of funding available for new innovative medicines, including medicines for rare diseases - a combined €100 million in the last three budgets. More than 100 new medicines have been approved including 39 for orphan medicines that are used to treat rare diseases. The medicines have provided new treatments for rare diseases, including cystic fibrosis, multiple sclerosis, spinal muscular atrophy, Duchenne muscular dystrophy, and Leber’s hereditary optic neuropathy.

While the new national rare diseases plan is expected to be launched by quarter 3 of 2024, it will be dependent on the work of the steering group in the development of the plan.

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