Minister for Health marks Rare Disease Day 2026

The Minister for Health Jennifer Carroll MacNeill TD has today highlighted the areas of progress made since the publication of the National Rare Disease Strategy 2025-2030 and re-affirmed her commitment to improving services for the estimated 300,000 people in Ireland living with a rare disease.

Minister Carroll MacNeill said:

Since its launch in August 2025, progress on the implementation of the strategy include:

• The Implementation Oversight Group held its first meeting in February and meetings are expected to be quarterly. Two people with lived experience of rare diseases among its membership and additional patient partners will be invited to support the strategy’s wider implementation.
• An implementation plan is in development and will be published in 2026, regular updates will be shared with the rare diseases community.
• The first in a series of symposia on Rare Diseases will take place in Galway on 21 May and will focus on improving diagnostic, care pathways and supports.
• A Rare Diseases Education Programme has been developed by the Health Service Executive’s National Rare Disease Office (NRDO) and is available to all healthcare professionals. This is helping improve awareness and knowledge of rare disease among healthcare professionals.
• Work on the expansion of the national newborn bloodspot screening programme continues, with screening for both Severe Combined Immunodeficiency (SCID) and Spinal Muscular Atrophy (SMA) expected to commence in April this year.
• Additional resources have been provided to support greater care coordination for patients improving the patient experience by supporting them in navigating the health service.
• €30m has been allocated for 2026 to new drugs funding.

The Department of Health building in Dublin is lit up in blue today as part of the Light Up for Rare” campaign, acknowledging the estimated 300 million people globally living with a rare disease.

Chief Medical Officer Professor Mary Horgan said:

“On Rare Disease Day I want to recognise the tireless work of people living with a rare disease, their families and representative advocacy groups in raising awareness of the challenges they face. Living with a rare disease can pose many, often unseen, challenges. This underscores the importance of the rare disease day initiative to shine a light on these challenges and bring them to the fore. Building greater awareness and knowledge across the public and healthcare professionals will be a core component of the implementation of the National Rare Disease Strategy.”

The Health Service Executive’s National Rare Disease Office (NRDO) provides national leadership and coordination across a range of HSE functions that are central to supporting and empowering patients and people affected by rare diseases.

The NRDO’s achievements and ongoing programme of work is aligned with the recommendations of the National Rare Disease Strategy 2025–2030 that provide a strong foundation for its implementation and include the following:

• Delivery of the National Rare Disease Information Service, providing trusted, evidence-based rare disease information to patients, families and healthcare professionals.
• Development of integrated rare disease care pathways ensuring more coordinated care for people living with rare conditions, with several already developed and approved.
• Advancement of education and awareness initiatives for both people living with rare diseases and healthcare professionals; a Rare Diseases Education Programme has been developed and is available to all healthcare professionals.
• Supporting Ireland’s participation in the European Reference Networks for rare diseases, embedding Irish clinical expertise within a wider European framework of collaboration and specialist rare disease knowledge exchange.