Babies in the UK are suffering from avoidable paralysis due to delays in testing for a muscle-wasting disease known as spinal muscular atrophy (SMA). Gene therapies have shown the ability to prevent paralysis in newborns with SMA if administered at birth before irreversible damage occurs. Pop star Jesy Nelson shared the heartbreaking experience of her twin babies losing the use of their legs shortly after birth due to delayed diagnosis and treatment.
To address this critical issue, the Mirror has launched a campaign urging the NHS to include SMA testing in the standard newborn heel prick test. SMA patients have a genetic mutation affecting the SMN1 gene, which leads to a lack of SMN protein production crucial for maintaining nerve cell health and muscle function. Without this protein, motor neurons die off, causing muscle atrophy in areas like the legs, chest, and arms.
While there are three approved treatments for SMA on the NHS, including Nusinersen (Spinraza), Evrysdi, and Zolgensma, these therapies are most effective when administered early before irreversible nerve damage occurs. Despite the availability of these treatments, the UK lags behind other countries in newborn SMA screening, with only a limited number of serious health conditions being tested for in newborns.
The UK National Screening Committee initially decided against adding SMA to the newborn screening program in 2018. Subsequent evidence from global studies highlighted the benefits of early treatment, leading to the availability of effective gene therapies. However, the committee has delayed implementing national screening, citing the need for further studies and an in-service evaluation.
While Scotland has decided to proceed with SMA screening for newborns, parts of England still lack comprehensive screening. The delay in starting the in-service evaluation means SMA may not be routinely screened for until at least 2031, potentially resulting in late diagnoses and preventable disabilities among newborns.