Families affected by spinal muscular atrophy (SMA) have expressed frustration that their long-standing calls for newborn screening were overlooked until former Little Mix star Jesy Nelson spoke out. Health Secretary Wes Streeting responded to Nelson's announcement about her twins' diagnosis with SMA type 1, saying she was 'right to challenge and criticise how long it takes to get a diagnosis'. However, campaigners say they have been ignored for years.
Portia Thorman, head of advocacy at SMA UK, whose nine-year-old son Ezra has SMA1, said: 'I have been trying to raise awareness of the need for newborn screening for about four years. 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 added that Streeting declined an invitation to visit a pilot screening study at the University of Oxford.
Amy Moffatt, whose five-year-old son Oakley has SMA1, said: 'It’s a complete act of neglect that screening hasn’t been brought in by now – it’s been over six years of campaigning.' Oakley received gene therapy after diagnosis at 10 weeks, but requires full-time care and costly adaptations. The family fundraises through Tree of Hope.
SMA type 1 is the most severe form, causing muscle weakness and wasting; without treatment, babies typically live less than two years. England does not screen newborns for SMA, though Scotland will start in April. The UK National Screening Committee is reassessing the evidence. Countries including the US, Germany, Japan and Ukraine already screen.
Molly Everitt, 23, who has SMA type 3, said the media narrative has been too negative, noting many with SMA lead full lives. Charlie Mosey, mother to four-year-old Rupert with SMA1, called the attention 'bittersweet', adding: 'It’s fantastic Jesy has helped to raise the profile.'
