A simple test could have given our son a very different future
Summary
This article discusses the impact of early screening for spinal muscular atrophy (SMA), a severe genetic condition, on two siblings' lives in the UK. One child, diagnosed at birth, received treatment early and is developing normally, while the older sibling, diagnosed later, faces significant challenges. Their parents are advocating for universal newborn screening for SMA in the UK.Key Facts
- Marley and Meadow, siblings, both have spinal muscular atrophy (SMA), a serious muscle-wasting disease.
- Marley was diagnosed at five months and requires extensive medical support as he can't walk, talk, or eat normally.
- Meadow was diagnosed and treated immediately after birth, allowing her to develop typically.
- Their parents are campaigning for all newborns in the UK to be screened for SMA.
- Currently, SMA screening is only done for those with a family history of the condition.
- SMA UK is pressing for the disease to be included in standard newborn blood spot tests.
- In the UK, about 47 babies were born with SMA in 2024, and roughly 1 in 40 people carry the gene mutation.
- Scotland plans to begin a pilot program for SMA screening in 2026.
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