Dear Deputy/Senator,

Are you aware that people living with a rare disease wait over 2 years for a diagnosis after a referral for genetic testing and can be treated for the wrong condition while they wait? However, in comparable health systems the wait time is only 12 weeks. I need your help to improve the system for the 300,000 people living with a rare disease in Ireland and ensure that the commitment in the programme for government to support genetic services in Our Lady’s Children’s Hospital, Crumlin is delivered.

Genetic services in Ireland are drastically under-resourced. Your constituents rely on our only national genetic testing site, at the Department of Clinical Genetics of Our Lady’s Children’s Hospital Crumlin. This centre is the most under-resourced when compared to other health systems. Due to the lack of capacity and delays in receiving a diagnosis, people living with a rare disease are on multiple waiting lists and are typically initially treated for the wrong diseases.

As 72% of rare diseases are genetic in origin, giving people suspected of living with a rare disease and their families’ access to genetic testing will help them get the right diagnosis faster. Earlier access to genetic testing will also free up resources within the health system as people suspected of living with a rare disease should no longer have to meet 3 or more different consultants before getting an accurate diagnosis.

This issue is of vital importance to your constituents and directly impacts a quarter of all families who are supported by Regional Health Area B. I request that you support people living with a rare disease, their families and carers, by asking the Minister for Health to provide adequate resources for genetic services in Our Lady’s Children’s Hospital, Crumlin. A genetics service that seeks to realise its clinical potential, provide a quality experience for people living with a rare disease and pursue an efficient allocation of resources should set waiting lists as a key measure of performance. Other health systems have a turnaround time of 12 weeks; we can and should set the same ambition.

I’m asking you to Get Rare Aware and support our campaign to improve the health system for the 300,000 people living with a rare disease in Ireland and their families.

Yours
faithfully,

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