Róisín Shortall (Dublin North West, Social Democrats) | Oireachtas source

Last week, along with other Members of the House, including Deputy Naughten, I had the pleasure of attending the "I Am Number 17" exhibition launch in St. Stephen's Green. The exhibition features 17 people living with rare diseases, reflecting the fact that one in 17 people will be affected by a rare disease at some point in their lives. Putting their stories on display in the heart of our capital city, just a stone's throw from the Oireachtas and Government Buildings, is certainly a powerful statement and I encourage Members to visit it.

Recently, rare diseases policy reform has been put back on the political agenda thanks to the advocacy of patients and their families. I also acknowledge the commitment of the Minister to addressing this issue. Six years after the last rare disease plan expired, a new plan is finally being developed and that is very welcome. However, implementation of that plan is the key thing. After all, many of the recommendations from the last national plan remain unimplemented. That cannot be repeated this time around. One of the key actions must be reducing the length of time it takes to receive a diagnosis. As of May 2023, the waiting time for a clinical genetics outpatient appointment was up to two years. However, getting a final diagnosis for a rare disease is often an even longer and more convoluted process. A 2022 Rare Diseases Ireland survey found that 21% of patients waiting two to five years for a final diagnosis, while 14% waited between five and ten years. Incredibly, for 23% of patients, the wait was a staggering ten years or more.

One of the key findings from the research was that a lack of rare disease awareness, particularly among GPs and emergency doctors, led to delayed diagnoses and treatments. A recent 10% increase in genetic service referrals between 2020 and 2022 would suggest that the tide is beginning to turn. However, we still have some way to go before bridging the knowledge gap in primary care, emergency care and social care. If the new plan is to deliver for patients, increased capacity in genetic and genomic services is also required. According to 2023 Rare Diseases Ireland report, the Republic of Ireland has 4.3 genomics staff per million population, well below Northern Ireland's 8.4 staff per million population. The wait time for a first clinical appointment in this jurisdiction is a staggering 24 months, eight times longer than the North's three months. I acknowledge that some progress has been made following the publication of the national strategy for genomics and genetic medicine but it is regrettable that the 2023 recruitment targets were not met. Now, a recruitment freeze is in place so it is very hard to know where we stand in terms of implementing that commitment.

People with rare diseases also experience very fragmented care, with limited and disjointed access to services. Some 73% of respondents to Rare Diseases Ireland's survey in 2022 said that their care was not co-ordinated effectively, while only 15% had a personalised care plan in place. This lack of co-ordination should improve with the implementation of the regional health areas but a strategy for rare disease management at national level will still be needed to address quite specific shortcomings in service integration. Undoubtedly, there are many other relevant issues such as investment in rare disease research, implementation of e-health and access to orphan medicines but my time is limited. In conclusion, I would like to state the Social Democrats' support for the development of a new rare disease plan. An updated roadmap for the prevention, diagnosis and treatment of rare diseases is long overdue and I look forward to its publication this year at some point, we hope sooner rather than later.

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