Families affected by spinal muscular atrophy (SMA) have expressed frustration that their years of campaigning for newborn screening were overlooked until former Little Mix star Jesy Nelson publicly shared her twins' diagnosis. Health Secretary Wes Streeting responded swiftly to Nelson's call, stating she was "right to challenge and criticise how long it takes to get a diagnosis" and promising to improve screening and genomic medicine.
Portia Thorman, head of advocacy at SMA UK, whose nine-year-old son Ezra has SMA type 1, described the sudden attention as "bittersweet." She noted that she and others had written multiple letters to Streeting over four years without significant action. "We have pretty much been ignored, especially by parliamentarians," she said, adding that Streeting had declined an invitation to visit a pilot screening study at the University of Oxford.
Amy Moffatt, whose five-year-old son Oakley was diagnosed with SMA1 at 10 weeks, said she had to fight for her son's symptoms to be taken seriously. Despite gene therapy stopping deterioration, Oakley requires full-time care and costly adaptations. "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.
England currently does not screen newborns for SMA, though Scotland will begin in April. The UK National Screening Committee has commissioned a reassessment. Countries including the US, Germany, Japan, and Ukraine already screen for the condition, which affects an estimated 10,000 to 14,000 babies worldwide each year.
Molly Everitt, 23, who has SMA type 3, said the media narrative has been overly negative, stressing that many with SMA lead full lives. She described seeing SMA on a newspaper front page as "surreal" after years of campaigning unnoticed. Charlie Mosey, mother to four-year-old Rupert with SMA1, echoed the sentiment: "It's fantastic Jesy has helped to raise the profile, but it's bittersweet."
