Dr Grace McMacken is setting up the first specialist clinic in Northern Ireland for people who have symptoms of a muscle wasting condition but don’t yet have a genetic diagnosis. The clinic aims to improve diagnosis, care, and access to treatment.
On Tuesday (22 March) the Northern Ireland Department of Health/An Roinn Sláinte published the Northern Ireland Rare Diseases Action Plan.
We urgently need a commitment from the Northern Ireland government to start newborn screening for SMA. Because every baby deserves the same chance of early diagnosis and early treatment. We’ll be at Stormont on 2 November and need people to invite their MLAs to attend.
Today, Thursday 1 October, marks a defining moment for newborn screening as the first laboratory in England will start testing for spinal muscular atrophy (SMA) to assess the feasibility of adding it to the NHS newborn blood spot test on a permanent basis. However, as England follows Scotland, who started screening in March, there are currently no plans in place in Wales or Northern Ireland.
MDUK will today call for improved multidisciplinary care in Northern Ireland at an All-Party Parliamentary Group.
Yesterday, Thursday 10 September, we were in Belfast alongside our partners SMA UK, taking our campaign for newborn screening for spinal muscular atrophy (SMA) to the Northern Ireland Assembly.
We have joined forces with Spinal Muscular Atrophy UK (SMA UK) and Pathfinders Neuromuscular Alliance to raise concerns of people living with muscle wasting and weakening conditions as a result of potential significant changes at the Belfast Health and Social Care Trust adult neuromuscular service in the coming weeks.
We’re delighted to invite you to our Northern Ireland Paediatric Information Day, a free, in-person event for parents and carers of children living with a muscle wasting condition.
Suzanne is a researcher at the University of Sheffield and Pathfinders Neuromuscular Alliance. She lives with spinal muscular atrophy (SMA). Suzanne shares her latest research projects on what it truly means to breathe, her own experiences of bone health and why this study is important, and her excitement about being back on our Northern Ireland Council.