Calls for SMA screening ignored before Jesy Nelson campaign, say families | Health

When former Little Mix star Jesy Nelson announced that her twins had been diagnosed with spinal muscular atrophy type 1 (SMA1), a rare genetic disease that causes muscle wasting, the news quickly became front-page news.

The call for SMA to be included in newborn screening attracted national attention, and health minister Wes Streeting was quick to respond, saying Nelson was “right to question and criticize how long it takes to get a diagnosis.”

“I am committed not only to SMA screening but also to making better use of genomic medicine,” he said.

But for many families affected by SMA, his intervention was both bittersweet; Some said their calls for the same kind of government action had been ignored for years.

“I’ve been trying to raise awareness of the need for newborn screening for about four years now. We’ve written a lot of letters to Wes Streeting, so it’s been a bit annoying because he’s known about it for a long time,” said Portia Thorman, head of advocacy and community at the charity SMA UK.

Her nine-year-old son Ezra had SMA1 and was admitted to intensive care as a newborn baby without being diagnosed, and the struggle they faced to receive timely treatment led her to take part in campaigns on this issue.

“We’ve been largely ignored, especially by MPs, and it feels like they’ve really pushed it aside because it’s a rare disease and it doesn’t affect the masses or influence their votes,” he said.

Thorman added that Streeting had previously been invited to visit a pilot study of newborn screening for SMA at Oxford University but declined.

Amy Moffatt, whose five-year-old son Oakley was diagnosed with SMA1 at 10 weeks, said: “I think it’s a complete oversight that screening hasn’t been done until now; we’ve been campaigning for over six years, and for some beyond that, advocating, talking to people and trying to get the message out, and this has been very painful.”

“It’s so sad that Jesy and her platform are raising awareness when people have been knocking on everyone’s door for so long.”

She had to fight to have her son’s symptoms taken seriously before he was quickly treated with gene therapy that stopped his condition from worsening. But he needs full-time care, including extensive physiotherapy and adaptations for his disability, costing tens of thousands of pounds, and they are raising money through the Tree of Hope platform to help him make ends meet.

“He’s happy. He can do anything he wants. But one day we’re going to have to talk about it with our kids and talk about how different things might have been if they had been screened,” she said.

Without treatment, SMA causes muscles to weaken and waste over time, and if left untreated, it can affect breathing and swallowing, as well as mobility. Type 1 It is the most severe form of the condition, and if left untreated, babies live less than two years on average.

England does not screen newborns for SMA, but the UK National Screening Committee has launched a study to re-evaluate this and Scotland has announced it will begin screening in April.

Countries including the United States, Germany, Japan and Ukraine have introduced screening, with approximately 10,000 to 14,000 babies worldwide being born with SMA each year.

Molly Everitt, 23, who is studying for a master’s degree in medical law at the University of Liverpool and has SMA type 3, said the media narrative around the condition was very negative and focused too much on the negative aspects of the condition.

“So many of us with SMA have done really great things and lived very full lives; having SMA doesn’t have to define your life,” he said.

He said it was difficult to get national attention to this situation and he wanted to make sure the public knew people had been campaigning on this issue for a very long time.

“I’ve had this condition my whole life that no one has ever heard of, and one day I walked into a store and SMA was on the front page of the newspaper. It’s just a very surreal feeling,” he said. “We had been campaigning for years but no one was listening and we needed someone famous to speak and suddenly everyone was speaking.”

“It’s pretty bittersweet,” said Charlie Mosey, mother of four-year-old Rupert, who has SMA1. “It’s great that Jesy is helping to raise the profile and get the news talking about it. But I think it’s a shame it took a celebrity to bring this to the media.”

The family have raised more than £500,000 for clinical research into SMA since the birth of Rupert, who became one of the first babies in the country to receive gene therapy for SMA.

“We are very close to many clinicians who have been campaigning for clinical trials into newborn screening for years and they have been repeatedly pushed back. But so was Rupert.” Had he been tested at birth, he would have had a very different prognosis, Mosey said.

A spokesperson for the Department of Health and Social Care said: “We are grateful to everyone who has campaigned tirelessly on this issue, including SMA UK and the many families who have shared their experiences over the years. We have heard their concerns and understand their frustration.”

“The UK National Screening Committee has recommended a large-scale study of newborn screening and a call for research is now live. Hundreds of thousands of babies will be screened for SMA as part of a trial in the NHS. We will continue to work closely with charities, clinicians and families as this study progresses.”