Cork couple campaign to highlight rare diseases

JONATHAN and Julie Sweeney from Mallow, are part of Rare Diseases Ireland’s ‘Get Rare Aware’ campaign, which is highlighting the challenges facing people living with rare diseases in Ireland.

Their eight-year-old son Connor is living with the rare condition called 22q11 deletion and following Connor’s diagnosis, they also received a parental diagnosis.

Members of the ‘Get Rare Aware’ campaign, made the call for the new genomic resource associate roles at a meeting in Government Buildings with politicians on June 28.

Rare Diseases Ireland (RDI) 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.

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.

CEO of RDI, Vicky McGrath, told Oireachtas members that two out of the six new genomic resource associate roles that it is calling for are going to be rolled out as part of the HSE’s National Strategy, since the launch of the ‘Get Rare Aware’ campaign in late-March.

“We are one-third of the way there with our call for six new genomic resource associate roles, as we have been informed that two of these new roles are to be rolled out.

“However, we are urging Oireachtas members and politicians, including in Cork city and county, to urgently take action to put in place the other four,” Ms McGrath said

For more information about the ‘Get Rare Aware’ campaign visit www.getrareaware.ie.