Scotland becomes first part of UK to screen babies for rare muscle disease

Three year old Grayce from Glasgow had a condition called spinal muscular atrophy, a genetic neuromuscular disease that causes progressive muscle weakness.

She uses a wheelchair and has faced a number of health challenges in her short life because of it.

If Grayce was born today it’s very likely that wouldn’t be the case, and that in part is down to the tireless campaigning of her parents and others like them.

From Monday, SMA will become the 11th condition tested in Scotland via the newborn heel-prick screening test. That means the roughly three or four babies born in the country each year with it can be treated before developing symptoms.

Cystic fibrosis, sickle cell disease and congenital hypothyroidism are some of the conditions already tested for in the screening because all of them respond well to early treatment.

The change is being welcomed by the charity SMA UK and the families it supports.

Parents Carrie and Tony Pearson feared the worst when Grayce was first diagnosed, around six months old she stopped being able to kick her legs or sit-up on her own.

It was eight months after that when they were told their daughter had type-2 SMA. A lot of the stuff that is out there about it is quite outdated.” Carrie told STV News.

“We did ask ‘is our child going to die’ and they told us ‘no, there’s treatments there now.'”

Tony said: “You need to be that parent, to be in that room and have that anxiety going through you.

“We don’t want that for other parents, this can be stopped.”

The Scottish Government and pharmaceutical company Novartis are funding a two-year evaluation to assess how well SMA screening can detect the condition earlier, in doing so Scotland has become the first part of the UK to do this.

SMA UK have been campaigning for the same to be brought in by the UK Goverment – and that has been boosted by the voice of former Little Mix star Jesy Nelson.

Nelson revealed in January that her twin daughters Ocean and Story (born May 2025), were diagnosed with Type 1 Spinal Muscular Atrophy.

Giles Lomax, the chief executive of SMA UK, told STV News: “What Jesy’s done is two-fold. She’s magnified an existing campaign.

“She’s amplified that message to a wider public sphere, we’ve seen recently her petition she submitted with the government reached over 150-thousand signatures.”

If the trial period proves to have a significant impact, campaigners hope it’ll become a permanent feature of the screening.

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.”