Imagine discovering your newborn has a devastating condition that could have been treated earlier, but wasn’t because of a lack of routine screening. This is the heartbreaking reality for many families affected by spinal muscular atrophy (SMA), a rare genetic disorder that causes progressive muscle weakness and wasting. But here’s where it gets controversial: despite years of advocacy, it took a celebrity’s voice to finally bring this issue to the forefront. When former Little Mix star Jesy Nelson revealed her twins’ SMA diagnosis, the media erupted, and Health Secretary Wes Streeting vowed to address the issue. Yet, for families like Portia Thorman and Amy Moffatt, this response felt like a slap in the face. They’ve been pleading for newborn SMA screening for years, only to be met with silence—until now.
Thorman, whose son Ezra was diagnosed with SMA1 after a harrowing stint in intensive care, has been advocating for screening since 2020. ‘We’ve written countless letters, knocked on every door, and yet it’s as if our voices didn’t matter because SMA is rare,’ she said. Moffatt’s son, Oakley, was diagnosed at 10 weeks, but only after a battle to have his symptoms taken seriously. Gene therapy halted his decline, but he still requires round-the-clock care, costing tens of thousands of pounds. ‘It’s heartbreaking that it took Jesy’s platform to get attention,’ Moffatt said. ‘We’ve been fighting for this for years.’
And this is the part most people miss: SMA, particularly type 1, is relentless. Without treatment, babies rarely live past two years. Yet, England still doesn’t screen newborns for it, despite countries like the US, Germany, and Japan already doing so. Scotland, however, will begin screening in April, leaving English families wondering why their children are being left behind.
The Department of Health and Social Care insists they’re taking action, with a large-scale study into newborn screening underway. But for many, it’s too little, too late. ‘It’s a complete act of neglect,’ Moffatt said. ‘Six years of campaigning, and it took a celebrity to make it matter.’
Molly Everitt, a 23-year-old with SMA type 3, highlights another overlooked aspect: the negative media portrayal of the condition. ‘SMA doesn’t define your life,’ she said. ‘Many of us lead full, amazing lives.’ Yet, the sudden spotlight on SMA feels surreal to her. ‘I’ve lived with this condition my entire life, and now it’s front-page news because of Jesy. It’s bittersweet.’
Charlie Mosey, whose son Rupert was one of the first infants to receive gene therapy for SMA1, echoes this sentiment. Her family has raised over £500,000 for clinical trials, yet progress remains slow. ‘Had Rupert been screened at birth, his prognosis would be so different,’ she said. ‘It’s a shame it took a celebrity to get the media’s attention.’
Here’s the burning question: Why does it take a famous face to drive change for a condition affecting thousands worldwide? SMA impacts 10,000 to 14,000 babies annually, yet advocacy efforts have been largely ignored until now. Is it because SMA is rare, or because its victims are often too young to vote? The Department of Health’s response, while promising, leaves many families skeptical. Will this momentum last, or will SMA fade back into obscurity once the headlines move on?
What do you think? Should rare diseases like SMA receive more attention, even without celebrity involvement? Share your thoughts in the comments—let’s keep this conversation going.
