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OBTAINING A RARE disease diagnosis can take years, but I don’t think my doctors struggled to connect the dots and conclude that I had the same rare, genetic disease as my younger brother was diagnosed a few years before me.
Friedreich’s ataxia (FA) is a neuromuscular condition that progressively causes muscle weakness and nervous system damage. There are under 200 people in Ireland with this condition.
FA is just one of the over 6,000 recognised rare diseases. The exact number of people with rare diseases in Ireland is unknown, but it is estimated to be 300,000 by Rare Diseases Ireland (RDI), the national alliance for rare disease patient organisations in Ireland.
Rare diseases are classified as such because they have a very low prevalence, and are often chronically-debilitating, progressive and life-threatening. 72% of rare diseases are of genetic origin, and the other 28% are the results of infections, rare allergic reactions and rare cancers.
The intrinsic pain and difficulty associated with rare diseases has been compounded by years of government neglect, a lack of awareness and inadequate services.
When he was growing up, Alex Ó Conaill (20) thought he was just double-jointed: he was easily able to ‘pop’ his shoulders and fingers out of place and back again. After ending up in A&E many times, physiotherapy appointments and genetic testing, Ó Conaill was finally diagnosed with hypermobile Ehlers-Danlos syndrome (hEDS), a rare genetic connective tissue disorder.
“I think there’s a dangerous lack of awareness of rare diseases in Ireland — amongst the general population but also the medical community.” said Ó Conaill, expressing frustration that the HSE has only one specialist for Ehlers-Danlos Syndrome: “I’ve seen first hand how this entirely eliminates specialised care for people suffering from these conditions.”
Because of the low prevalence, rare disease experts are few and far between. This lack of knowledge represents a huge barrier for people with rare diseases.
Rare diseases are often misdiagnosed or go undiagnosed for years. The difficulty with diagnostic processes is a big barrier for rare disease patients in Ireland that stops them from accessing specialised therapies and possible treatment. But the problems don’t stop there.
Ciara Dunne’s son Sam (16) has neuromuscular scoliosis, epilepsy and autism spectrum disorder of an unknown cause. Sam’s condition is so rare that it has no recognised global diagnosis, and Sam is the only one in the world at present.
“Having a child with a rare disease in Ireland has been a long and difficult road” said Dunne, describing her experience with trying to get a diagnosis for her son’s condition. The diagnosis timeline was long, and without any clear answers, the Dunnes faced referral after referral.
“The biggest challenge has been navigating the system — pushing for the right support, dealing with delays, and trying to access services,” said Dunne, “It can be exhausting, but we’ve also met some incredible professionals who have really helped along the way.”
Experiences like the Dunnes’ are not uncommon. Last year, Adelaide Health Foundation published a report following a study of genetic counselling and testing in Ireland which identified major flaws in the system.
The study found that people who require access to genetic testing and clinical genetic expertise are facing significant challenges in their personal lives due to the lack of access to expertise and ongoing extended waiting times for appointments and results.
“Given the numbers that are impacted [by rare diseases], I do believe that with some thought and consideration around diagnostic pathways, we could probably alleviate the burden of rare diseases greatly in the next couple of years if we really thought about what’s the best way of doing this”, said Vicky McGrath, Chief Executive of RDI. Even with a diagnosis, accessing the necessary care and therapies can be a difficult, long process.
John Paul Cuneen (45) was born with spina bifida, a condition caused when the spine and spinal cord do not form properly in the womb. Whilst praising hard-working health professionals who have helped him throughout his life, Cuneen recalls there was no transition set in place for him when he aged out of children’s services.
This is a very common experience. Although Ó Conail, Dunne, Cuneen and myself have very different rare diseases, we have all, at some point slipped through the cracks of the health service.
The publication of the National Rare Disease Plan (NRDP) in 2014 was the first major policy that focused on rare diseases. The NRDP covered the period between 2014-2018 but Ireland failed to renew the plan in subsequent years.
In the 2020 Programme for Government, the government pledged to publish a new NRDP but slow-moving progress never saw it come to fruition in the lifetime of the previous government.
The creation of a new NRDP was a key point for many parties during the election period, and I was relieved to see it included in the 2025 Programme for Government but also sceptical it would ever be published.
Regarding the publication of the new rare disease policy, the Minister for Health, Jennifer Carroll MacNeil said, “The health and wellbeing of all people in Ireland is among the most fundamental priorities for me and of Government. This is highlighted in the Programme for Government commitment to launch and implement the new Rare Disease Strategy.
“The development of the Strategy has involved extensive engagement with the rare disease community through the Patient Forum and the public consultation (with approximately 600 submissions received) and I hope that it can be published in the coming weeks.”
I am glad to see the government finally taking action and that publication is imminent. I hope progress won’t stop there. The Programme for Government also pledged to improve access to orphan drugs, which are usually designed to treat rare diseases.
This issue is of particular interest to me. Last February, the European Medicines Agency approved the first ever treatment, Skyclarys, for FA. Early access programmes for Skyclarys are open in France and Germany, and there are plans to expand to more counties soon but the prospect of it being available on the Irish market is still quite far off because Ireland is lagging behind the European standard when it comes to drug approval.
There are thousands of rare disease patients who need easier, faster access to treatments. Investing in and improving access to orphan drugs would literally change lives.
Cuneen shared that his own experience of having a rare disease in the health service has not been positive, saying “The government and health service do leave a lot to be desired.”
I agree with Cuneen. As a person with a rare disease, I feel totally disregarded by the government. In the 15 years since my diagnosis, I have become well-acquainted with the government, and I feel a certain type of exhaustion having to advocate for my needs as a rare disease patient.
I have to question the government’s alleged commitment to people with rare diseases. It’s worth noting that €6.5 million was provided for rare diseases in Budget 2025. In the same Budget, greyhound racing, a controversial ‘sport’ that other countries are sensibly banning, received €19.82 million euro in funding, just over three times the amount that was given to rare diseases.
I think it’s understandable that I’m reluctant to take the Government at its word on this occasion, given their blatant disregard for rare diseases, especially in recent years.
Feeling more optimistic than I do, McGrath said that between the patients, advocacy organisations and clinicians “there’s a lot of people out there all pushing in the same direction, and I think that that kind of pushing can only but achieve the type of change that we’re looking for.” Overall, McGrath feels very positively about how rare diseases will be treated in Ireland.
While I can’t exactly say I share McGrath’s positivity, I am hoping for better.
Niamh Ní Hoireabhaird is a disability advocate, activist and freelance journalist. You can follow her on X at @niamhnih. Today, 28 February is Rare Disease Day.
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