Athlone campaigner calls for urgent action on rare diseases

An Athlone ‘Get Rare Aware’ campaigner is asking politicians to take urgent action to address the problems in Ireland’s health service negatively impacting people living with rare diseases.

Laura Egan from Athlone is part of a campaign group that has met with members of the Oireachtas to call for the urgent creation of six new genomic resource associate staffing roles at the Department of Clinical Genetics at CHI at Crumlin for the adequate delivery of diagnostic and support services for people with rare diseases.

Laura is a co-founder of Rare Ireland, a charity supporting families living with rare conditions, and her daughter is living with Koolen de Vries syndrome.

The Athlone woman is part of Rare Diseases Ireland’s Get Rare Aware campaign, which is highlighting the challenges facing people living with rare diseases in Ireland.

Laura, together with other patient and medical clinician supporters of the Get Rare Aware campaign, made the call for the new Genomic Resource Associate roles at a briefing meeting in Government Buildings with politicians on June 28.

Representing the medical clinician community at the Oireachtas Get Rare Aware briefing were Dr Sally Ann Lynch, Consultant Clinical Geneticist at the Department of Clinical Genetics at CHI at Crumlin and CHI at Temple Street; Dr James O’Byrne, Clinical Geneticist at the Mater Misericordiae University Hospital; and Professor Rachel Crowley, Consultant Endocrinologist at St Vincent’s University Hospital, Dublin.

According to Rare Diseases Ireland (RDI) — the national alliance for voluntary groups representing people affected by or at risk of developing a rare disease — there are estimated to be 62,893 people in regional health area B (RHA B), which includes Westmeath, living with a rare disease. RDI also estimates that 300,000 people in Ireland, or one in 17 people, are living with a rare disease, of which there are more than 6,000 types.

The Get Rare Aware campaign is calling on politicians to take action and press the government to deliver on its promise in the Programme for Government to “support the medical genetics service” at CHI at Crumlin by accelerating the allocation of resources to reduce the waiting list for routine genetic services.

According to research findings published by RDI in an ‘Ending the Wait: Actions to reduce the waiting list for Ireland’s genomics service’ report as part of the Get Rare Aware campaign, Ireland has approximately half the number of people employed in core clinical genetic services compared with international peers, resulting in a two-year waiting list for the services, which is in stark contrast to the three-month waiting list for genetic services in Northern Ireland.

Actions outlined in the report include the prioritisation of new Genomic Resource Associate staffing roles, as called out for in the HSE’s National Strategy, to manage the triage process for new referrals, and help people navigate clinical pathways and access post-diagnosis support.