Babies in the UK are at risk of unnecessary paralysis due to delays in screening for spinal muscular atrophy (SMA), a genetic disorder that affects muscle function. Early 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 leg function shortly after birth before receiving a belated diagnosis and treatment.
To address this issue, the Mirror has launched a campaign urging the inclusion of an SMA test in the NHS newborn heel prick test. SMA results from a faulty SMN1 gene that hinders the production of SMN protein crucial for nerve cell health and muscle function. Without this protein, motor neurons deteriorate, leading to muscle weakness in areas like the legs, chest, and arms.
Currently, three NHS-approved treatments can halt SMA progression: Nusinersen (Spinraza), Evrysdi, and Zolgensma. However, these treatments are most effective when administered early as they cannot reverse nerve damage once it occurs. The UK lags behind other countries in newborn screening for SMA, with only ten health conditions checked compared to up to 50 in other nations.
Despite evidence supporting early treatment benefits, the UK National Screening Committee has hesitated to add SMA screening to the national program. While Scotland has decided to implement SMA screening, England remains divided due to research project requirements, causing delays in the in-service evaluation process. It is estimated that routine SMA screening may not be in place until 2031, potentially leading to delayed diagnoses for about 11 SMA babies annually.
The urgency for SMA screening highlights the need for timely action to prevent unnecessary suffering and disability among newborns.