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

I return to a topic I raised with the Tánaiste here on Leaders Questions last May regarding the diagnoses and care pathways for patients with rare diseases. Despite their name, rare diseases are not rare at all. We all know someone with a rare disease. In Ireland, about one in 12 people are or, at some stage in their lives, will be affected by such a condition. This means that approximately 825,000 Irish people are impacted by a rare disease when family members, many of whom are carers, are included. The west and north west of Ireland has one of the highest incident rates of rare disease in Europe.

While most rare diseases appear early in life, with sadly about 30% of children passing away before their fifth birthday, many are not diagnosed until adulthood when it can take ten years to get a diagnosis. Over the interim years, incorrect diagnosis leads to expensive and often pointless medical interventions including psychological care on the assumption that the symptoms are all in their heads. In some instances there is inappropriate surgery.

There is nothing worse than being unwell and not believed even though you know there is something fundamentally wrong, except, of course, when it is your child who is unwell. Then you can be dismissed by the doctors as just an over-anxious parent. When patients are treated over the years for the wrong condition, it delays access to the appropriate care that could make a real difference to their quality of life or even their life expectancy. It also places huge, yet futile, costs on our health budget and denies other patients vital tests and treatments that could transform their care. That is why getting an accurate and timely diagnosis is so vital for children and adults with a rare disease. But Ireland has about half the number of people employed in core clinical genetic services when compared with our international peers. This results in a two-year waiting list for diagnostic services that can revolutionise care for patients and particularly children with rare conditions. This is in stark contrast with the three-month waiting list for the same genetic services in Northern Ireland.

To help address this situation, the Minister for Health allocated €2.7 million this year to commence the implementation of a national strategy for accelerating genetics and genomic medicine in Ireland. This was to invest in the establishment of a national office for genetics and genomics and to appoint 16 staff to build capacity in the field of genomics within our health service. But we are now informed that some of these posts have not even been advertised because of the HSE moratorium on recruitment. Obtaining the diagnosis is a long and tortuous journey. It is wasteful of resources in our health service if they are not targeted properly. I ask the Taoiseach to personally intervene to address this deplorable situation which is compounding the cost overruns in our health service.

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