Babies in the UK are at risk of unnecessary paralysis due to delays in testing for spinal muscular atrophy (SMA), a debilitating muscle-wasting disease. Early detection of SMA through gene therapies can prevent paralysis if administered at birth before irreversible damage occurs. Pop star Jesy Nelson shared the story of her twin babies who lost mobility in their legs before receiving a belated diagnosis and treatment.
The Mirror has launched a campaign urging the NHS to include an SMA test in the routine newborn heel prick test. SMA patients have a genetic fault affecting the SMN1 gene, leading to a lack of SMN protein production crucial for nerve cell health and muscle function. Without this protein, motor neurons die off, causing muscle weakness in areas like the legs and arms.
Currently, three treatments approved by the NHS can halt SMA progression, including Nusinersen (Spinraza), Evrysdi, and Zolgensma. However, these treatments are most effective when administered early, as they cannot reverse existing nerve damage. Despite the availability of effective treatments, the UK lags behind other countries in newborn SMA screening, with only a limited number of serious health conditions being checked at birth.
While many countries worldwide conduct routine SMA screening for newborns, the UK National Screening Committee delayed adding SMA to the screening program. Despite evidence supporting the benefits of early treatment, the committee opted for further studies instead of immediate implementation. NHS Scotland has taken the lead by deciding to include SMA screening in their routine heel prick test.
However, some regions in England do not conduct SMA screening due to research requirements, causing concerns among healthcare professionals. The planned in-service evaluation for SMA screening is expected to begin in 2027, potentially delaying routine screening implementation until 2031. This delay raises concerns about late diagnoses and missed opportunities for early intervention to prevent paralysis in newborns.