New specialist clinic aims to give better access to advanced genetic testing

A 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.

It comes as scores of people in the region face travel to Great Britain in hopes of finding a diagnosis.

Access to advanced genetic testing has been described as more difficult in Northern Ireland compared to other parts of the UK.

To tackle these challenges the clinic, led by doctors at Queen’s University Belfast and the South Eastern Health and Social Care Trust – 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.

Among patients who say they have had an “uphill battle” for answers is Roseagh Terrins-Hutchinson, 29, from Lisburn.

She said she first experienced symptoms of her undiagnosed neuromuscular condition in her early teens.

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.

She said she has visited many doctors over the years seeking answers, and has had experiences she felt were dismissive of her symptoms.

“For 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,” she said.

“So, 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.”

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.

She is now awaiting further tests in London, which may take up to a year to secure an appointment due to high demand.

She described the experience as “like fighting an uphill battle”.

“I 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’t know what is causing my symptoms, they can’t screen an embryo,” she said.

“This gene or a mechanism that is causing my symptoms, isn’t known yet and no individual has reported it yet.

“I feel angry and isolated about how gruelling it’s been to even reach the stage where I have received a clinical diagnosis.

“My condition may not be life limiting but it is enormously life changing for so many factors.

“It’s been great to receive support from Muscular Dystrophy UK, as I navigate this challenging journey.”

She added: “I 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 – that they receive a timely diagnosis and the support they deserve for their neuromuscular condition.”

Dr Grace McMacken, at Queen’s University, welcomed the funding to support the launch of Northern Ireland’s first dedicated clinic for people with undiagnosed neuromuscular conditions.

“This 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,” she said.

Kate Adcock, director of research and innovation at Muscular Dystrophy UK, said the project marks real progress towards faster diagnoses.

“We’re proud to be increasing our investment in research year after year – reaching new areas, exploring more conditions, and supporting a growing community of scientists,” she said.

“The new project at Queen’s 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.

“It marks real progress towards faster diagnoses and more personalised care for people living with muscle wasting and weakening conditions.”

More details and information on Muscular Dystrophy UK’s research projects: musculardystrophyuk.org/research