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Two Children, Two Futures: The Power of Early SMA Test
30 Nov
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 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.
The family is supporting SMA UK's campaign to add SMA to the standard newborn blood spot test, which currently screens for ten other rare conditions. This initiative aims to ensure that all babies, not just those with a family history, have the chance for an early diagnosis and life-changing treatment.
