Family of boy with rare muscle condition welcome 'life-changing' newborn tests

The family of a boy with a rare genetic condition have welcomed government plans to introduce “life-changing” screening tests for newborn babies.

Nathanael Mitchell, six, was just 11 months old when he was diagnosed with spinal muscular atrophy (SMA), a rare genetic condition that causes progressive muscle wastage.

The Edinburgh youngster has SMA type 1, the most severe form of the disease.

Although a range of treatments is now helping him to thrive, much of the damage had already been done by the time his condition was detected.

His mum, Bernadette, told STV News: “There were signs from really early on. Knowing something was wrong and not knowing what it was for a long time. It was so horrible. A lonely place to be, the months of worry.

“If we’d known at the beginning, it could have been so different for Nathanael.

“It’s a horrible thing to be told after your baby is born, but knowing there are treatments and the future is bright and you can have a normal life.”

The current image has no alternative text. The file name is: 3a4c75502bae90fa8334b3c71155d336-1758292871.jpeg — Nathanael was diagnosed with SMA at 11 months old

Each year, around 47 babies in the UK are born with SMA, which occurs because of altered SMN1 genes that cause the lower motor neurons in the spinal cord to deteriorate. Around 60% of those children will have the most serious form of the condition.

Bernadette has spent years campaigning for the condition to be added to the UK’s newborn screening programme, which already tests for conditions like cystic fibrosis from as early as five days old.

Beginning in 2026, Scotland will become the first country in the UK to begin national screening for Spinal Muscular Atrophy (SMA), which affects movement, breathing and swallowing.

In a landmark move, Scotland will become the first country in the UK to introduce national screening for SMA, starting in 2026.

Until 2019, there were no approved treatments for SMA in the UK, but now three are available – and starting them early in life can make a huge difference.

Bernadette said the decision will spare future families the pain and uncertainty she experienced.

“I was in literal tears hearing the news. We’ve been waiting for so long.

“It means you don’t have that worry. This decision will change lives.

“The SMA community are fantastic – it can be devastating, but there’s so much positivity. There’s so much more that can be done.”

Despite the challenges, Nathanael is thriving. Now in Primary 2, he’s received a glowing school report and enjoys life like any other six-year-old.

Bernadette added: “He’s doing really well – they’re so happy with him. He’s doing well in his subjects, he’s popular, he just loves being there and loves learning.

“The school have been so amazing and supportive.”

The charity SMA UK has been lobbying governments across the country to make the change.

Its chief executive, Giles Lomax, said Scotland’s move would “set an example for the rest of the UK to follow.”

“We’re absolutely delighted. It’s going to be such a game-changer for so many families in Scotland.

“We’re really fortunate to have three disease-modifying therapies available. In many cases, the children can now grow up to follow normal development pathways. It’s a huge difference from where we were before.

“It really is profound, how much of an impact this will have.”

Health secretary Neil Gray added: “This pilot is an important step towards giving children the best possible start in life, and ensuring families get the support they need as early as possible.”