A new campaign, Get Rare Aware, is calling on people in power to take action on under-resourced genetic services at the Department of Clinical Genetics at Children’s Health Ireland (CHI) at Crumlin.
The region of Donegal, Sligo, Leitrim, Roscommon, Mayo, and Galway has an estimated 44,654 people living with a rare disease.
Nationwide, there are 300,000 people living with rare diseases. A recent report found that 37 per cent of people wait over five years for a diagnosis and that 73 percent are seeing three or more different specialist consultants while seeking a diagnosis.
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, according to a research report recently published by Rare Diseases Ireland (RDI).
The RDI alliance aims to bring together politicians, medical experts and people living with rare diseases together for the Get Rare Aware campaign.
The campaign will see RDI hosting information events in each of the country’s new Regional Health Areas (RHAs) over the next two months. The information event for RHA F, which covers Co Donegal, is taking place on Monday, 17th April at 12.00 noon.
The information event, which is taking place online, is designed to share the experiences of people living with rare diseases and their healthcare providers while they seek access to genetic services at CHI in order to get an accurate genetic diagnosis.
The event will be addressed by RDI CEO Vicky McGrath, together with people living in RHA F affected by delays with genetic services at CHI at Crumlin and medical professionals seeking to refer their own patients to genetic services for an accurate diagnosis. RDI member organisations that support people living with rare diseases and their families in each of the RHAs will also attend the information events. The RHA F event is open to the public, including to people in Co Donegal.
Pre-registration for the RHA F information event, which covers Co Donegal, is essential at www.rdi.ie/gra, where further information about the event is also available. People can also register for the RHA F event directly on Eventbrite at www.eventbrite.ie/e/get-rare-aware-briefing-rha-f-tickets-603747393707.
Announcing the Get Rare Aware campaign, Vicky McGrath, CEO of Rare Diseases Ireland, said: “We are calling for additional resources for the Department of Clinical (Medical) Genetics at CHI, to at least cut in half the waiting list for genetic services for people living with rare diseases in the next one to two years. The impact of an under-resourced genetics service is that without the capacity to see people referred to the service, they are added to waiting lists and they are treated for diseases they do not have. They also miss the opportunity to receive the most appropriate treatment and their health continues to deteriorate. The Programme for Government specifically commits to supporting the genetics service at CHI at Crumlin. We need this support to be delivered now.”
