Summary
Scotland is now testing newborn babies for Spinal Muscular Atrophy (SMA), a rare condition that weakens muscles and limits life expectancy. This two-year pilot program uses a simple heel prick test to identify SMA early, allowing for treatment that can prolong the lives of affected infants.
Key Facts
- Scotland is the first part of the UK to test newborns for SMA.
- SMA causes muscle weakness and can reduce life expectancy to about two years without treatment.
- The condition was highlighted by Jesy Nelson's twin daughters, who have been diagnosed with SMA.
- The heel prick test can detect SMA early, allowing treatment to start sooner.
- Grayce Pearson, a child with SMA, was diagnosed too late for gene therapy.
- Her parents are advocating for SMA testing at birth to start treatments early.
- Grayce now takes medication to improve her symptoms and uses a wheelchair.
- Around three to four babies are born with SMA each year in Scotland.
- The Scottish Newborn Screening Laboratory in Glasgow tests about 50,000 samples annually.
