Scotland becomes first in UK to test newborns for rare genetic condition

Scotland has become the first part of the UK to test newborn babies for Spinal Muscular Atrophy (SMA).

The rare genetic condition causes progressive muscle weakness and, without treatment, can limit life expectancy to just two years.

Babies can be identified as having SMA through a heel prick test and early treatment can prolong their lives. As part of a two-year pilot, this test will now be given to all babies born in Scotland.

The test has come too late for Grayce Pearson, now three, from Milton, Glasgow, who was diagnosed with SMA when she was a baby.

She lacks a protein vital for muscle development which affects everything from walking to swallowing and breathing.

Her father Tony said: "Overnight she stopped kicking her legs and wasn't attempting to crawl. She wasn't trying to reach out for things."

Getting a diagnosis is a race against time because as nerve cells die, treatment options and outcomes change.

After raising concerns about her six-month-old baby's decline in movement, her mother Carrie said she was at first told she was just being an over-anxious mother.

"A child just doesn't stop being able to physically move her legs altogether," she said.

Grayce was eventually diagnosed with SMA type 2 - which is less severe than SMA type 1 - when was 14 months old.

Carrie said: "Grayce's age when she was diagnosed, she couldn't get gene therapy, which would have been a one-off and she probably would have been making her milestones."

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Source: BBC News, 23 March 2026