List of rare diseases in Ireland
On a beautiful sunny 3rd March, over 100 people gathered at Stormont, Belfast for our second annual Rare Disease Day event in Northern Ireland and the national launch of our report Improving Lives, Optimising Resources: A Vision for the UK Rare Disease Strategy. The group was made up of a wide range of stakeholders from the rare disease community including patients, families and carers, clinicians, researchers and representatives from the Department of Health, Social Services and Public Safety (DHSSPS). It was hosted by Jim Wells MLA, Chair of the Health, Social Services and Public Safety Committee, who we’re very grateful to for standing in at (very) short notice when Michelle O’Neill MLA was called away due to a family emergency. There were also a number of other MLAs in attendance including Samuel Gardiner, Kieran McCarthy, Conall McDevitt, Alex Easton, Anna Lo and Trevor Lunn.
Jim Wells MLA began by welcoming everyone to the event and said he was heartened by the great turnout. He explained that his interest in rare diseases began when his daughter was diagnosed with retinitis pigmentosa, which led to him learning more about the extent of rare diseases in Northern Ireland. He has found this to be an issue which the general public tend to know very little about and so the importance of an alliance, such as Rare Disease UK (RDUK), to campaign for the needs of rare disease patients is crucial. He passed his thanks to everyone for attending and wished all the best for future work to benefit those that require help and support.
Our next speaker was David O’Prey, carer for Mr Begley who has Loeys-Dietz syndrome, a rare genetic condition that affects the connective tissue in the body. Mr Begley was misdiagnosed for 17 years and in 2001 had to undergo a 14 hour heart operation. David explained his opinion that the health services don’t understand this condition and that it is time the health authorities in Northern Ireland learnt how to deal with rare conditions. David had to fight to get a meeting with a professor in London after his request ‘fell on deaf ears’, yet he feels that without the connection that was eventually made with the Royal Brompton, Mr Begley would not be here today. He made a plea for the DHSSPS to better help those with rare diseases and explained his frustration at how difficult it can be to access services and support that should be readily available. He added that the health service is letting people down and he believes that a strategy for rare diseases is essential to improve the experiences of these patients and reduce the problems they currently face. He believes that people with rare diseases need to work together, speak out and ask questions to ensure the situation is improved.
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