The national call to add spinal muscular atrophy (SMA) to the UK's newborn screening programme, propelled into the spotlight by former Little Mix star Jesy Nelson, has been met with a bittersweet response from families who have campaigned on the issue for years.
A Long-Ignored Campaign
When Health Secretary Wes Streeting responded to Nelson's news that her twins were diagnosed with SMA type 1, he said she was "right to challenge and criticise how long it takes to get a diagnosis." He pledged to look at screening and genomic medicine. For many families, this intervention came after years of their own pleas being ignored.
Portia Thorman, head of advocacy at SMA UK, has campaigned for about four years. Her nine-year-old son, Ezra, has SMA1 and was in intensive care as a newborn before diagnosis. "We've written many letters to Wes Streeting so it's a bit of a kick in the teeth because he has known about it for a long time," she said. Thorman added that Streeting was previously invited to visit a pilot study for SMA newborn screening at the University of Oxford but declined.
Amy Moffatt, whose five-year-old son Oakley was diagnosed at 10 weeks, described a "painful" journey of advocacy. "For it to take Jesy and her platform to raise the awareness when people have been knocking on everyone's doors for so long, it's just so sad," she said. Oakley received gene therapy but requires full-time care, with costs running into tens of thousands.
The Impact of Delayed Diagnosis
Spinal muscular atrophy is a rare genetic condition that causes progressive muscle weakness and wasting. SMA type 1 is the most severe form; without treatment, babies typically live less than two years. Early diagnosis through screening is critical for effective intervention.
England does not currently screen newborns for SMA, although the UK National Screening Committee is reassessing this. Scotland has announced it will start screening in April. Other nations like the US, Germany, Japan, and Ukraine already have programmes in place. Globally, between 10,000 and 14,000 babies are born with SMA each year.
Charlie Mosey, mother to four-year-old Rupert who has SMA1, echoed the mixed feelings. "It's fantastic Jesy has helped to raise the profile... But I think it's a shame that it's taken a celebrity to get it into the media." Rupert was among the first UK infants to receive gene therapy for SMA.
Beyond the Headlines: Living with SMA
Molly Everitt, 23, who has SMA type 3 and is studying for a master's degree, urged for a more balanced narrative. "So many of us with SMA have gone on to do really amazing things and live a very full life," she said. She found the sudden media focus surreal after a lifetime of the condition being unknown.
A Department of Health and Social Care spokesperson stated: "We are grateful to all those who have campaigned tirelessly on this issue... The UK National Screening Committee has recommended a large-scale study into newborn screening, and a call for research is now live."
The spokesperson confirmed that as part of an NHS trial, hundreds of thousands of babies will be screened for SMA, with work continuing alongside charities and families.
