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<\/p>\nA new specialist clinic is aiming to support faster diagnoses and more personalised care for people living with muscle wasting and weakening conditions in Northern Ireland.<\/p>\n
It comes as scores of people in the region face travel to Great Britain in hopes of finding a diagnosis.<\/p>\n
Access to advanced genetic testing has been described as more difficult in Northern Ireland compared to other parts of the UK.<\/p>\n
To tackle these challenges the clinic, led by doctors at Queen\u2019s University Belfast and the South Eastern Health and Social Care Trust \u2013 and funded by Muscular Dystrophy UK, aims to give people better access to genetic testing, more personalised care, and the chance for answers about their condition.<\/p>\n
Among patients who say they have had an \u201cuphill battle\u201d for answers is Roseagh Terrins-Hutchinson, 29, from Lisburn.<\/p>\n
She said she first experienced symptoms of her undiagnosed neuromuscular condition in her early teens.<\/p>\n
Experts believe it may be spinal muscular atrophy with lower extremity predominance, and Ms Terrins-Hutchinson is hoping further tests will help to confirm this.<\/p>\n
She said she has visited many doctors over the years seeking answers, and has had experiences she felt were dismissive of her symptoms.<\/p>\n
\u201cFor years, I had carried a deep sense of shame and embarrassment about my symptoms, feeling as though my body was betraying me which made it incredibly difficult to even seek medical help,\u201d she said.<\/p>\n
\u201cSo, when I finally found the courage to speak up, only to be dismissed, it left me feeling defeated and questioning whether there was any point in trying to advocate for myself.\u201d<\/p>\n
Her symptoms have become worse, and she now struggles to climb the stairs and has regular falls, muscle weakness and fatigue, and has been recommended genetic testing and taking part in nerve conduction studies.<\/p>\n
She is now awaiting further tests in London, which may take up to a year to secure an appointment due to high demand.<\/p>\n
She described the experience as \u201clike fighting an uphill battle\u201d.<\/p>\n
\u201cI would love to one day start a family but feel we are living in limbo. Having an unknown condition causes huge implications for family planning, mostly if they don\u2019t know what is causing my symptoms, they can\u2019t screen an embryo,\u201d she said.<\/p>\n
\u201cThis gene or a mechanism that is causing my symptoms, isn\u2019t known yet and no individual has reported it yet.<\/p>\n
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\u201cI feel angry and isolated about how gruelling it\u2019s been to even reach the stage where I have received a clinical diagnosis.<\/p>\n
\u201cMy condition may not be life limiting but it is enormously life changing for so many factors.<\/p>\n
\u201cIt\u2019s been great to receive support from Muscular Dystrophy UK, as I navigate this challenging journey.\u201d<\/p>\n
She added: \u201cI hope that by sharing my experience, I can raise awareness of these symptoms and help others in Northern Ireland who see themselves in my story feel truly validated in insisting on the care and treatment they deserve, and to ensure they are not left waiting \u2013 that they receive a timely diagnosis and the support they deserve for their neuromuscular condition.\u201d<\/p>\n
Dr Grace McMacken, at Queen\u2019s University, welcomed the funding to support the launch of Northern Ireland\u2019s first dedicated clinic for people with undiagnosed neuromuscular conditions.<\/p>\n
\u201cThis funding will help us bring cutting-edge genetic testing directly to patients, shorten the diagnostic journey, generate new insights into rare diseases, and lay the foundations for future research and improved care,\u201d she said.<\/p>\n
Kate Adcock, director of research and innovation at Muscular Dystrophy UK, said the project marks real progress towards faster diagnoses.<\/p>\n
\u201cWe\u2019re proud to be increasing our investment in research year after year \u2013 reaching new areas, exploring more conditions, and supporting a growing community of scientists,\u201d she said.<\/p>\n
\u201cThe new project at Queen\u2019s University Belfast reflects that ambition, bringing advanced genetic testing closer to home and helping people get the answers they need without travelling hundreds of miles.<\/p>\n
\u201cIt marks real progress towards faster diagnoses and more personalised care for people living with muscle wasting and weakening conditions.\u201d<\/p>\n