Call for action on under-resourced genetic services
A new campaign, Get Rare Aware, has been launched by Rare Diseases Ireland (RDI) to bring together politicians, medical experts and people living with rare diseases, including in Tipperary North, to take action on under-resourced genetic services at the Department of Clinical Genetics at Children’s Health Ireland (CHI) at Crumlin.
The campaign will see RDI hosting information events in each of the country’s new Regional Health Areas (RHAs) over the next two months to highlight the challenges people are encountering when seeking a diagnosis for a rare disease, including people in Tipperary North. The information event for RHA E, in which there are estimated to be 24,528 people living with a rare disease, and which covers Tipperary North, is taking place on Monday, May 8, at 12 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 E 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 E event is open to the public, including to people in Tipperary North.
Lived Experience of a Rare Disease – Anne and Ciara Micks, Limerick-Ennis
Anne Micks, who is originally from Limerick and lives in Ennis, Co Clare, cares for her daughter Ciara, age 21, who was diagnosed with Ehlers Danlos syndrome (EDS) in 2015. EDS is a little-known, debilitating genetic connective tissue disorder which affects the collagen. Collagen is in every part of the body from skin, blood vessels to organs.
Anne, who is Chairperson of Irish EDS and an RDI board member, will be speaking at the Get Rare Aware online information event for RHA E counties Limerick, Clare and Tipperary North on Monday (08.05.23). Anne will share Ciara’s and the family’s story of the impact of the challenges of accessing genetic services in Ireland.
Speaking about why she is involved in the RDI Get Rare Aware campaign, Anne Micks said: “As a parent and advocate for other individuals with EDS, I see regularly the challenges they face, not only with their condition but also their engagement with the medical profession in our country. Unfortunately, there is a significant lack of knowledge and understanding surrounding EDS and its comorbid conditions, which often results in those that are able travelling abroad for diagnosis/genetics and treatment plans.”
REGISTER FOR EVENT
Pre-registration for the Get Rare Aware RHA E information event, which covers Tipperary North, is essential at www.rdi.ie/gra, where further information about the event is also available. People can also register for the RHA E event directly on Eventbrite at www.eventbrite.ie/e/get-rare-aware-briefing-rha-e-tickets-623733903897.
Reduction in waiting lists and extra resources urgently needed
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 RDI, ‘Ending the Wait: Actions to reduce the waiting list for Ireland’s genomics service’.
Announcing the Get Rare Aware campaign, Vicky McGrath, CEO of Rare Diseases Ireland, said: “We are asking politicians, including in Tipperary North, to take urgent action to address the problems in Ireland’s health service negatively impacting the 300,000 people in the country living with rare diseases, their family members, and the healthcare professionals providing their care. Genetic services are massively under-resourced causing long waiting lists and adding to delays in diagnosis. Our 2022 ‘Rare Reality’ 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. Obtaining a diagnosis is a long and tortuous journey and is wasteful of resources right across the healthcare system, not to mention damaging to both the health and wellbeing of those seeking a diagnosis.
“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.”