Denis Naughten (Roscommon-Galway, Independent) | Oireachtas source

Last week, I attended the launch of the I Am Number 17 campaign, a determined initiative by 17 change-makers who shared their stories thereby shedding light on the realities faced by patients with rare diseases in Ireland. They are committed to enhancing our understanding of rare diseases and demonstrating that such conditions are more common than any of us believe. Rare diseases include cystic fibrosis, Duchenne muscular dystrophy and Huntington's disease, alongside most cancers, especially those affecting children. Rare diseases are collectively common and affect at least one in 17 people in Ireland, which equate to at least 300,000 people. This figure very likely underestimates the true prevalence when considering rare disorders. In a nation as small as ours, it is almost certain that we know or have encountered someone affected by a rare disease yet the path to an accurate diagnosis is fraught with challenges. The lack of specific knowledge and expertise often leads to significant delays in receiving proper treatment, thereby placing a heavy burden on families and carers. Many rare diseases emerge early in life with a staggering 30% of the children affected passing away before their fifth birthday although many cases are not identified until much later.

The anguish of being ill without a diagnosis or witnessing a child suffering without recognition is profound. Thus, securing an accurate and swift diagnosis is critical. However, 37% of patients endure a gruelling five-year quest for a diagnosis, often after being treated for unrelated conditions due to the complex nature of diseases. Irish research reveals that children with rare diseases occupy hospital beds 25 times more than other children, not to mention the significant care and cost burdens placed on adults with rare diseases.

The potential of genomics in addressing these challenges is immense. It offers hope for quicker, more precise diagnoses yet our efforts to harness this potential through a national strategy for genetics and genomics medicine have been hampered by recruitment issues and the absence of a designated home for the new central genetics and genomics laboratory. That laboratory is vital for the future of genetic testing in Ireland yet plans for its relocation from CHI Crumlin when the new children's hospital opens remain unclear, with no alternative site identified. This oversight jeopardises the effectiveness of our health service, leaving a crucial component of our national strategy in limbo and exacerbating existing inequalities.

I implore the Taoiseach to personally address this critical issue. Let us ensure that the I Am Number 17 campaign leads to meaningful and lasting change, improving the lives of those affected by rare diseases in Ireland.

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