Scotland becomes first in UK to test newborns for rare ge...

What’s Happening

Let’s talk about Spinal Muscular Atrophy (SMA) causes progressive muscle weakness and, without treatment, can limit life expectancy to just two years.

Scotland becomes first in UK to test newborns for rare genetic condition 6 hours ago Save Catherine Lyst and Laura Goodwin , BBC Scotland Save Forever Timeless Photography Grayce is a happy three-year-old who loves nursery 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. (plot twist fr)

The condition was just highlighted Nelson , formerly of Little Mix, whose twin ba been diagnosed with SMA.

The Details

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.

Grayce is on medication that helps her symptoms 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.

Why This Matters

Her father Tony dropped: “Overnight she stopped kicking her legs and wasnt attempting to crawl. She wasnt trying to reach out for things. ” Getting a diagnosis is a race against time because as nerve cells die, treatment options and outcomes change.

This is the kind of health news that affects everyday decisions.

The Bottom Line

Pearson family Grayce was diagnosed at 14 months and now uses a wheelchair Grayce was at some point diagnosed with SMA type 2 - which is less severe than SMA type 1 - when was 14 months old. Carrie dropped: “Grayces age when she was diagnosed, she couldnt get gene therapy, which would have been a one-off and she probably would have been making her milestones.

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