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

"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."

"Getting a diagnosis is a race against time because as nerve cells die, treatment options and outcomes change. Grayce was eventually diagnosed with SMA type 2 when she was 14 months old."

"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."

"Even the fact that she's twisting around and reaching for stuff, she couldn't do that at all. Grayce is a happy three-year-old, who loves going to nursery, playing music and whizzing about in her wheelchair."

Scotland has initiated a pilot program to test all newborns for Spinal Muscular Atrophy (SMA) using a heel prick test. SMA leads to progressive muscle weakness and can significantly reduce life expectancy. Early detection allows for timely treatment, which can prolong lives. The Pearson family shares their experience with SMA, highlighting the urgency of diagnosis and the impact of delayed treatment. Grayce, diagnosed at 14 months, now takes medication that improves her symptoms, allowing her to engage in activities her parents feared she might never achieve.

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