Violet-Anne Wynne (Clare, Independent) | Oireachtas source

I will begin by acknowledging the various constituents who took the time to reach out to me to inform me and relay their personal stories, in some cases, reliving the inevitable trauma they experienced. They encouraged me to support the Get Rare Aware campaign and Rare Diseases Ireland. I thank them for their continued passionate advocacy. I also remember the 12% of children with rare diseases who pass away before they turn 18, their families and all the people affected by rare diseases.

I will talk about the rare reality survey for a minute. Survey responses indicated that the journey to diagnosis is far too long, often too fragmented and far too stressful. Some 37% of respondents waited longer than five years for a diagnosis, 53% were assessed and in some cases treated for three different conditions on the journey to diagnosis, and 72% saw three or more consultants in different specialties on their journeys to diagnosis. Some 77% of those who accessed genetic testing received a definitive diagnosis and, highlighting the significance of the issue, three quarters of respondents received genetic testing results within three months when they went to a private healthcare provider and only 38% did so in the public system.

Another report, Ending the Wait, made four main recommendations, which I support in the House this afternoon. First, we must accelerate recruitment and expand the types of roles that staff genetic services. This will allow senior clinical staff to focus on the complex tasks such as diagnosis and create an important resource pipeline. Second, we must equip clinical teams with the resources to achieve further efficiencies in pathway management. Third, we must empower clinical teams to implement interim technology solutions; and finally, we must utilise accessible capacity and build cross-Border services on the island of Ireland through collaboration with services in the North.

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