Jesy Nelson’s SMA diagnosis Ignites Debate Over Newborn Screening in the UK
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The recent diagnosis of spinal muscular atrophy type 1 (SMA1) in former Little Mix star Jesy Nelson’s twins has thrust the critical issue of newborn screening for the rare genetic condition into the national spotlight, prompting renewed calls for government action and exposing years of frustration among affected families. While Health Secretary Wes Streeting acknowledged Nelson was “right to challenge and criticise how long it takes to get a diagnosis,” many advocates say their pleas for proactive screening have been consistently overlooked.
Years of Advocacy, a Bittersweet Response
For families living with SMA, a condition causing progressive muscle weakness and wasting, the Health Secretary’s response, while welcomed, feels belated. “It’s a bit of a kick in the teeth because he has known about it for a long time,” stated Portia Thorman, head of advocacy and community at the charity SMA UK, explaining that she and others have been writing letters to streeting for approximately four years advocating for change.
Thorman’s nine-year-old son, Ezra, was diagnosed with SMA1 as a baby. “We had to fight for his diagnosis, and then we had to fight for his treatment,” she saeid. “it’s exhausting. It’s heartbreaking. And it’s something that could have been avoided if he had been screened at birth.” She added, “I have to talk to our children about this one day and how different it could have been if they had been screened,” Moffatt added.
SMA, which currently has no cure, severely impacts mobility, breathing, and swallowing. Without treatment, babies with Type 1, the most severe form, typically live less than two years.
A Patchwork of Screening Policies
Currently, England does not include SMA in its newborn screening program. Though, the UK National Screening Committee has initiated a reassessment of this policy, and scotland has announced plans to begin screening in April.this disparity highlights the evolving understanding of the benefits of early detection. Several other countries, including the US, Germany, Japan, and Ukraine, have already implemented worldwide newborn screening for SMA, with an estimated 10,000 to 14,000 babies born with the condition worldwide each year.
Beyond Diagnosis: The Importance of Narrative
Molly Everitt, a 23-year-old medical law student living with SMA type 3, expressed concern about the media’s tendency to focus solely on the negative aspects of the condition. “So many of us with SMA have gone on to do really amazing things and live a very full life – having SMA doesn’t need to define your life,” she said. She emphasized the long-standing advocacy efforts that preceded Nelson’s public announcement.
“For my entire life I’ve had this condition no one has heard of, and then I went into a shop one day and SMA was on the front page of the newspaper. It’s just the most surreal feeling,” Everitt remarked. “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.”
Charlie Mosey, mother to four-year-old Rupert, who also has SMA1, shared a similar sentiment. “It’s fantastic Jesy has helped to raise the profile…But I think it’s a shame that it’s taken a celebrity to get it into the media.” Rupert was one of the first infants in the country to receive gene therapy, thanks to his family’s fundraising efforts – they have raised over £500,000 for clinical trials. “Had Rupert been tested at birth, he would have such a different prognosis,” Mosey stated.
A spokesperson for the Department of Health and Social Care acknowledged the tireless efforts of campaigners and families.”We have heard their concerns and understand their frustration,” the spokesperson said. “The UK National Screening Committee has recommended a large-scale study into newborn screening, and a call for research is now live. As part of a trial in the NHS, hundreds of thousands of babies will be screened for SMA. We will continue to work closely with charities, clinicians and families as this work progresses.”
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