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Health - February 27, 2025
In many respects the term ‘rare diseases’ is a misnomer as it fails to adequately capture the prevalence of the conditions classified under this heading.
For instance, although a rare disease is defined in the EU as a disease or disorder affecting fewer than 5 in 10,000 of the European population it is estimated that there are between 5,000 and 8,000 distinct rare diseases in existence, affecting more than 6% to 8% of the population of the EU.
In real terms this means that anywhere between 27 million and 36 million people in the EU are affected by rare diseases.
The situation in Ireland according to its National Rare Diseases Office (NRDO) is that an estimated 300,000 people will develop a rare disease at some stage in their life. Indeed, it has long been recognised in Irish health policy that although specific groups of rare diseases may be included in well-established commissioning models, (e.g. rare epilepsy in the context of the neurology/epilepsy clinical programmes) “cohorts of ultra-rare groups of conditions frequently have poor visibility with very poor national coding and identification systems and are under-resourced and under-funded nationally.”
This is not to suggest that the complex web of issues relating to rare diseases has failed to receive significant political attention. Historically speaking however the process has been largely driven by campaigning organisations such as The Genetic and Rare Disorders Organisation (GRDO). This non-governmental is now known as Rare Diseases Ireland and it has effectively laid the foundation for organised patient-led advocacy in Ireland on the issue.
The GRDO as it was then known was incorporated in 1988. It lists its first achievement as the successful procurement of a dedicated national centre for medical genetics (NMCG) which was established at Our Lady’s Children’s Hospital in Dublin in 1994. This centre became Ireland’s main hub for diagnosing and managing rare genetic conditions, marking Ireland’s first major institutional response to rare diseases.
Subsequently Ireland was to joins EURORDIS (European Organisation for Rare Diseases), a step that connected Irish advocates with a broader European network, influencing EU policies like the 1999 Orphan Medicinal Products Regulation. This rapidly expanded Ireland’s access to international expertise and advocacy resources.
In January 2011, a high-level national conference was held in Ireland in conjunction with EUROPLAN, which brought together patients, patients’ organisations and healthcare professionals. The conference was notable because while it recognised the positive steps that had been taken it also explicitly called for major reform of the Irish health service to ensure it was capable of delivering better access to high-quality rare disease related services.
The Farmleigh meeting was followed by the Health Service Executive (HSE) commissioning of the ‘Have Your Say’ on-line public consultation in 2012.
Key points that emerged from the consultation process included the following: delayed diagnoses, difficulties for General Practitioners in accessing quality information, lack of appropriate diagnostic services and lack of a system for review of the diagnostic journey. Lack of awareness of rare diseases evident at all levels of the healthcare system as well as in relation to access to public and private services and entitlements both within the clinical setting and beyond. Better access to specialist care and improvements in accurate and timely diagnosis were considered the areas which could bring most benefit to rare disease patients in Ireland.
However, it was not until 2013 that a formal national rare diseases framework emerged in Ireland with the establishment of the HSE’s National Clinical Programme for Rare Diseases. This program aimed to improve coordination and care delivery for rare disease patients across Ireland. A critically important recommendations that was put forward by the National Clinical Programme was the urgent need to ensure that disease-specific registries, both existing and developing, should continue until the eHealth strategy is completely implemented in all fields of healthcare in Ireland. It was also strongly recommended that these registries should be future proofed in terms of technology and changing demographics and should be integrated nationally and within the European registries including ERN registries.
Action by the Irish Government continued in 2014 with the launch of Ireland’s first National Rare Disease Plan 2014–2018.
The Plan included 46 wide-ranging recommendations focusing on diagnosis, treatment pathways, and European collaboration (e.g., European Reference Networks – ERNs). The Plan also provided a strategic roadmap toward the delivery of the National Rare Disease Office (NRDO) which was eventually established in 2015.
The NRDO lists its central role as being the ‘coordination hub’ and the HSE main contact and driver of rare disease initiatives and projects in Ireland in accordance with the National Rare Disease Plan.
It also states that its aim is to support people with rare conditions and their families by improving accessibility and quality of services, specifically through a number of services including the provision of evidence-based information and acting as Orphanet Ireland host and curator.
The importance of Orphanet can be overstated. Established in France in 1997, it has become the premier gold standard reference source of information on rare diseases. The initiative became a European project in 2000 and is currently supported by grants from the European Commission. It now encompasses a network of 41 countries, within Europe and across the world.
As part of Ireland’s attempts to build on the progress it had achieved the HSE published a Model of Care for Rare Diseases in 2019. Essentially the Model of Care outlined best practices for delivering integrated care to rare disease patients while also taking significant steps to strengthen the practical implementation of the 2014–2018 plan.
One of the most important elements of the Model of Care was its attention to the express need to deliver a transition plan for children with rare diseases into multi-disciplinary and targeted adult services.
There has been a number of additional positive developments in 2024 and 2025 with respect rare disease management and services for which Ireland can be commended. These include the first ever reference to rare diseases in a government budget. In Budget 2025 €1.5 million was allocated to rare diseases (growing to €3 million in 2026).
In addition to this a further €5 million was allocated to rare diseases prior to the 2024 general election. This ensured that rare disease services moved from a situation of no ring-fenced investment in rare diseases to a total annual recurring budget of €8 million.
There is also much anticipation that a new National Rare Disease Strategy will be finalised in 2025. Advocacy groups representing persons living with rare diseases have stated that they are confident that the new strategy and implementation plan will provide the road-map to allow us to implement further positive change;
However there has also been widespread frustration within the rare disease advocacy community. This has focused on delays in providing six Genomic Resource Associates to be employed at the Department of Clinical Genetics at CHI, Crumlin.
This situation has arisen in part due to the recruitment moratorium imposed by the HSE CEO on hiring administrative roles.
We can say that while Ireland has demonstrated a significant and determined health policy focus on the issues surrounding rare disease diagnosis and awareness, clear gaps are still present when it comes to delivering specialist personnel. Moreover, the challenges of rare disease care in Ireland extend beyond funding and staffing constraints. There remains a critical need for better integration of rare disease expertise within the broader healthcare system, ensuring that primary care professionals are equipped to identify and manage rare conditions early. Furthermore, access to cutting-edge treatments—particularly gene therapies—remains a contentious issue, with slow approval processes and high costs often delaying life-changing interventions. While the recent budgetary allocations mark progress, long-term sustainability will require structural reforms, enhanced research funding, and a more agile response to the evolving landscape of rare disease treatment and management.