What is spinal muscular atrophy (SMA)?

SMA is a rare, progressive genetic disease causing severe muscle wasting and weakness, potentially leading to death if untreated.

Why is early testing for SMA crucial for babies?

Early testing and treatment at birth, like for Meadow, allow children to develop normally and avoid severe disability.

What is the SMA UK campaign asking for?

SMA UK is campaigning to include SMA screening in the standard newborn blood spot test to ensure early diagnosis for all babies.

Home / Health / Two Children, Two Futures: The Power of Early SMA Test

Two Children, Two Futures: The Power of Early SMA Test

30 Nov

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Summary

Meadow received gene therapy at birth, ensuring a normal life.
Marley, diagnosed late, faces severe breathing and mobility issues.
Parents urge mandatory newborn screening for spinal muscular atrophy.

Two Children, Two Futures: The Power of Early SMA Test

Two young children, siblings Marley and Meadow, present a dramatic illustration of the life-altering impact of early diagnosis for spinal muscular atrophy (SMA). While four-month-old Meadow is meeting developmental milestones after receiving gene therapy shortly after birth, her five-year-old brother Marley, diagnosed at five months, has significant mobility and breathing challenges.

Their parents, Rosie and Wes from East Yorkshire, are now advocating for mandatory newborn screening for SMA. They emphasize that early detection, ideally through a birth screening test, allows for timely intervention, preventing the severe muscle-wasting progression that Marley experiences. Meadow's healthy development serves as a powerful testament to the benefits of prompt treatment.