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 with SMA type 1. Health Secretary Wes Streeting responded quickly to Nelson's call, stating she was 'right to challenge and criticise how long it takes to get a diagnosis' and promising to look at screening for SMA as part of broader genomic medicine efforts.
However, advocates say Streeting's intervention feels 'bittersweet'. Portia Thorman, head of advocacy at SMA UK, whose nine-year-old son Ezra has SMA1, said she had been trying to raise awareness for four years and had written many letters to Streeting. 'It's a bit of a kick in the teeth because he has known about it for a long time,' she said. She noted that Streeting declined an invitation to visit a pilot newborn screening study at the University of Oxford.
Amy Moffatt, whose five-year-old son Oakley has SMA1, described the neglect as 'complete'. She said her family had to battle for a diagnosis and now faces tens of thousands of pounds in care costs. '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.
SMA type 1 is the most severe form of the condition, causing muscle weakness and wasting. Without treatment, babies typically live less than two years. England does not currently screen newborns for SMA, though Scotland will begin screening in April. Countries including the US, Germany, Japan and Ukraine already screen for the condition.
Molly Everitt, 23, who has SMA type 3, said the media narrative around SMA has been too negative, and that many people with the condition lead full lives. She described seeing SMA on the front page as 'surreal', adding that the campaign had been ongoing for years without attention until a celebrity spoke out.
