When former Little Mix star Jesy Nelson announced her twins had been diagnosed with spinal muscular atrophy type 1 (SMA1), the news quickly made front page headlines. The call for SMA to be added to newborn screening sprang to national attention, and Health Secretary Wes Streeting responded swiftly, saying Nelson was 'right to challenge and criticise how long it takes to get a diagnosis'. He added that he was determined to look at screening for SMA and make better use of genomic medicine.
However, for many families affected by SMA, Streeting's intervention was bittersweet. Some said their calls for the same kind of government action had 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 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 had previously 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, said: 'It’s been over six years of campaigning... 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.' Oakley was diagnosed at 10 weeks and treated with gene therapy, but requires full-time care and costly adaptations.
SMA, which has no cure, causes muscles to weaken and waste over time. Type 1 is the most severe form, and without treatment babies typically live less than two years. England does not screen newborns for SMA, although the UK National Screening Committee has commissioned work to reassess this, and Scotland has announced it will start screening in April. Countries including the US, Germany, Japan and Ukraine have already introduced screening.
Molly Everitt, 23, who has SMA type 3, said the media narrative around the condition had been too negative. 'So many of us with SMA have gone on to do really amazing things and live a very full life,' she said. She noted the national spotlight on SMA was surreal, adding: 'We have been campaigning for years but no one has been listening, and it’s taken someone famous to speak out and suddenly everyone is.'
