Families affected by spinal muscular atrophy (SMA) have expressed frustration that their years-long campaign for newborn screening was ignored until former Little Mix star Jesy Nelson publicly called for it. Nelson announced her twins were diagnosed with SMA type 1, prompting health secretary Wes Streeting to pledge action on screening and genomic medicine.
Portia Thorman, head of advocacy at SMA UK and mother of nine-year-old Ezra who has SMA1, said Streeting had been aware of the issue for years but declined an invitation to visit a pilot screening study at the University of Oxford. 'It’s a bit of a kick in the teeth because he has known about it for a long time,' she stated.
Amy Moffatt, whose five-year-old son Oakley was diagnosed at 10 weeks, said it was 'painful' that campaigners had been ignored for over six years. Oakley received gene therapy but requires full-time care and extensive physiotherapy, costing tens of thousands of pounds. '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 added.
SMA type 1 is the most severe form of the condition; without treatment, babies live less than two years on average. England does not screen newborns for SMA, though Scotland will begin screening in April. Several other countries, including the US and Germany, already screen. The UK National Screening Committee is reassessing the evidence.
Molly Everitt, 23, who has SMA type 3, described the sudden attention as 'surreal' but bittersweet, noting that people with SMA can live full lives. Charlie Mosey, mother of four-year-old Rupert with SMA1, called Nelson’s campaign 'fantastic' but lamented that fame was needed to amplify the message.
