Scotland becomes first part of UK to screen babies for rare muscle disease
All parents will now be offered spinal muscular atrophy screening for their newborns.
Scotland has become the first part of the UK to screen babies for a rare condition that causes progressive muscle wastage in a move parents have described as a “game-changer”.
Spinal muscular atrophy (SMA) can result in muscle weakness, breathing and swallowing issues and a loss of mobility in children.
If caught early, the most devastating effects of the condition can be avoided.
On average, three to four babies a year are born with SMA in Scotland.
All parents will now be offered SMA screening for their newborns through the existing blood spot test which is taken around day four after birth.
Tony and Carrie Pearson’s daughter Grayce was around six months old when she stopped being able to move her legs and began losing her strength.
After several referrals, doctors in 2024 confirmed it was SMA type two. Since then, the parents have been campaigning for a national screening programme.
Carrie told the Press Association: “We wish it came out sooner, obviously, but we are grateful now that every other child isn’t going to go through all those issues.
“They’re going to get treatment sooner and be able to meet their milestones, and all families aren’t going to have to go through that anxiety and stress that we did, and other families went through.”
She said it was “only logical that the rest of the UK falls behind” Scotland before adding: “Can you really put a price on a child’s life?”
Tony said the pilot is “history being made in Scotland”. He went on: “It’s £4 to test a baby for SMA. Is a child’s life worth £4? Definitely.”
He said he hoped the rest of the UK would follow Scotland, adding: “It’s a gamechanger.”
Dr Sarah Smith, director of the screening laboratory in Glasgow where all the tests will be conducted, said the aim of the pilot was to reveal whether a baby has SMA before they showed any symptoms and before any muscle wastage took place.
The lab, next to the Queen Elizabeth University Hospital, already screens for 10 disorders and the new scheme would add SMA to that list.
Dr Smith said: “It will mean these babies are picked up pre-symptomatically.
“With SMA, unfortunately, once the symptoms are present, you can’t easily reverse them. Our aim is to stop the symptoms from actually happening in the first place.
“So, we’ll be able to pick up the baby as having SMA pre-symptomatically, and we’ll be able to put them on treatment, and then hopefully they won’t present with some of the symptoms that this disease can have, so they’ll have a much better quality of life.”
Former Little Mix star Jesy Nelson has campaigned for all babies to be tested for SMA, after disclosing her twins, Ocean Jade and Story Monroe Nelson-Foster, were diagnosed with the rare condition.
In February, she announced she had become a patron of SMA UK and urged her fans to donate to the charity, which aims to improve the lives of people with the condition.
Giles Lomax, chief executive officer of SMA UK and the father of twins living with SMA, said the Scottish pilot project was a “huge moment for the SMA community”, who he said have been campaigning for newborn screening for a decade.
He added: “With all three treatments now routinely available through NHS Scotland alongside newborn screening, the future for anyone diagnosed with SMA is very different compared to their peers who were diagnosed symptomatically.
“These babies will now have the opportunity to grow up without lifelong health care needs and the complexity and challenges of living with SMA.”
The two-year scheme is being funded by the Scottish Government, which will provide £95,000, and the pharmaceutical company Novartis, which will provide £435,000.
Health Secretary Neil Gray said: “SMA can have devastating implications for babies and their families, and this investment demonstrates our commitment to early detection through our screening programme.
“I thank SMA UK and local campaigners who have worked so hard to highlight this issue, and Novartis for its funding.
“By detecting SMA before symptoms develop, screening could allow earlier treatment which could be life-changing and help secure the best possible care and support for babies and families.”
