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Parents of infants born with Spinal Muscular Atrophy (SMA), a rare and life-limiting condition, have expressed frustration over delayed diagnoses despite having raised early concerns about their children’s symptoms. For example, Dani-Rae Brown experienced muscle weakness starting at just five months old, but her SMA diagnosis only came seven months later. Now reliant on a wheelchair, Dani’s father, Charlie Brown, believes earlier screening and treatment at birth might have allowed her to walk and lead a more typical childhood. Similarly, Lucian Neale was diagnosed with SMA at six weeks old, even though symptoms were evident while he was still in the womb.
SMA is a progressive genetic disorder characterized by muscle wasting and weakness, often proving fatal within two years if untreated. The condition affects muscles involved in movement, breathing, and swallowing, with symptoms varying widely among those affected. The NHS currently offers a newborn blood spot test screening for nine rare conditions, but SMA is not routinely included unless there is a family history of the disease. SMA UK, a supporting charity, is urging the NHS to add SMA to the standard screening alongside other conditions, reinforcing the importance of early detection.
The UK National Screening Committee (UK NSC) has so far not recommended widespread newborn screening for SMA. This decision, initially made in 2018, cited limited treatment options and insufficient evidence of cost-effectiveness at the time. However, in February 2025, the committee approved a pilot screening program—the “in-service evaluation”—to collect data specific to the UK. Despite this, the rollout is on hold due to delays in securing researchers to conduct the study, contingent on NHS England’s formal agreement to support the pilot. NHS England has expressed commitment to exploring faster treatments for children with SMA and is involved in evaluating the potential of genomic sequencing as part of newborn screening in the future.
Families affected by SMA emphasize that timing is crucial. Giles Lomax, CEO of SMA UK, highlighted that early diagnosis and treatment dramatically improve outcomes for babies with severe SMA forms, enabling them to achieve developmental milestones otherwise unattainable once symptoms progress. He warned that damage to motor neurons caused by SMA is irreversible once the disease manifests. Meanwhile, Welsh government representatives confirmed they follow UK NSC advice and await further evidence from ongoing pilot programs in Scotland before considering routine newborn SMA screening. Approximately 47 babies were estimated to be born with SMA in the UK in 2024, a condition linked to gene alterations carried by about one in every 40 people
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