The new Rare Diseases Strategy 2025 -2030 strives to set Ireland on a course to become a global leader in addressing the needs of people with rare diseases, creating a transformative environment that ensures equitable access to care and supports, improves quality of life and accelerates advancements for individuals living with rare diseases.
It says it is first and foremost about people and building trust between all stakeholders through engagement, communication and partnership.
“Where possible, it is about People Living With A Rare Disease (PLWRD ) and their circle of support including caregivers and their representative patient advocacy.
“It is about organisations working in partnership with healthcare professionalsin the community, in hospitals and in the Health Regions across Ireland to drive person-centred care and better outcomes for PLWRD, with researchers and healthcareservice innovators, to deliver on the promise of new technologies and health system innovations that meet the needs of PLWRD and with health service leadership, policy makers and Governmentto adopt and put into action national and international policies that support implementation of this strategy in full.”
It says the Strategy should seek to harness the expertise, knowledge and enthusiasm that exists across the rare disease community and health and social care providers to deliver on the ambition of preventing rare diseases, enabling earlier diagnosis of rare diseases and providing optimal care and support across the life course to PLWRD to enable them to reach their full potential and to live their best lives.
Key elements of the Strategy are Early diagnosis, Timely Access, Fostering an environment of innovation and Implementing robust and transparent leadership, governance and accountability.
There are between 6,000 – 8,000 known rare diseases affecting up to 6% of the total EU population (at least 30 million Europeans). This means that, approximately 300,000 people in Ireland are living with a rare disease.
It outlines a comprehensive framework designed to enhance diagnosis, treatment, and support for people living with rare diseases, aiming to improve quality of life, promote equitable access to healthcare, and foster innovation in rare disease research and treatment.
The strategy contains 11 recommendations to achieve its vision, including:
- Putting people with rare diseases at the centre of service design and delivery.
- Establishment of an Implementation Oversight Group.
- Expansion of the National Rare Diseases Office.
- Establishment of a National Rare Disease Registry, to help improve the planning, coordination, and monitoring of services for people with rare diseases.
- Increased international cooperation, particularly through the integration of European Reference Networks (ERNs) into the Irish healthcare service.
- Improved care coordination.
- Increased education and awareness of rare diseases among health professionals.
The Strategy’s recommendations also emphasise the importance of developing and enabling earlier diagnosis, integrated care, data and registries, research and innovation, and access to orphan medicines. By addressing these areas, the Strategy aims to create amore inclusive healthcareservice that meets the complex needs of people living with rare diseases.
The Strategy was developed following engagement with a broad range of stakeholders, including patients and families affected by rare diseases.
Health Minister Carroll MacNeill said, “This Strategy affirms our commitment to improving the lives of the one in 17 people in Ireland living with a rare disease. It has been informed by the views and lived experiences of patients and their families, and designed not just to meet their needs, but to enable better health outcomes through earlier diagnosis, optimal care and support right throughout the life course.
“I am determined that in implementing the Strategy, we will continue this strong collaboration, and in this regard I will be establishing a new People Living With Rare Diseases Partnership Advisory Group to ensure that the voices of those most affected are continuously heard.
Deputy Chief Medical Officer Professor Ellen Crushell said:, “The launch of this Strategy reflects our commitment to improving supports, care and outcomes for all those living with a rare disease in Ireland. It sets out a clear roadmap for building a more coordinated, person-centred system that recognises the unique challenges faced by people living with rare diseases, their families and their circle of support.
“Crucially, the impact of this Strategy will depend on its effective and sustained implementation over the next five years, ensuring that the commitments contained within are translated into real and meaningful action.”
