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 condition that causes muscle wasting, the news quickly made headlines.

The call for SMA to be added to newborn screening attracted national attention and Health Secretary Wes Streeting was quick to respond, saying Nelson was “right to challenge and criticize the time it takes to get a diagnosis.”

“I am determined not just to screen for SMA, but also to make much better use of genomic medicine,” he said.

But for many families affected by SMA, his intervention was bittersweet, with some saying their calls for the same type 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. We’ve written lots of letters to Wes Streeting, so this is a bit of a kick in the teeth because he’s been aware of it for a long time,” said Portia Thorman, head of advocacy and community at the charity SMA UK.

Her nine-year-old son, Ezra, suffers from SMA1 and ended up in intensive care as a newborn before he was diagnosed, and the struggle they faced to get treatment in time led her to play a role in campaigning on the issue.

“We’ve been virtually ignored, especially by parliamentarians, and it’s like, because it’s a rare disease and it doesn’t impact the masses or their votes, they’ve just brushed it aside,” she said.

Thorman added that Streeting had previously been invited to take part in a pilot study into newborn screening for SMA at the University of Oxford, but had declined.

“I just think it’s an act of complete negligence that screening hasn’t been introduced until now – it’s taken over six years of campaigning, more than that for some, of advocacy, talking to people and trying to get the message out and it’s been so painful,” said Amy Moffatt, whose five-year-old son Oakley was diagnosed with SMA1 at 10 weeks.

“It took Jesy and her platform to raise awareness when people have been knocking on every door for so long, it’s so sad.”

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

“He’s happy. He can do whatever he wants. But we’ll have to talk to our kids about it one day and how different it could have been if they had been tested,” she said.

SMA, which has no cure, causes muscles to weaken and waste over time and, if left untreated, can affect mobility, as well as breathing and swallowing. Type 1 is the most severe form of the disease and, without treatment, babies live less than two years on average.

England does not test newborns for SMA, although the UK’s National Screening Committee has commissioned work to reassess this and Scotland has announced it will begin screening in April.

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

Molly Everitt, 23, who is studying for a Masters in Medical Law at the University of Liverpool and has SMA type 3, said the media narrative around the condition had been very negative, focusing too much on the downsides of the condition.

“Many of us with SMA have gone on to do truly amazing things and live very full lives – having SMA doesn’t have to define your life,” she said.

She said the national attention to the disease has been difficult to understand and she wanted to make sure the public knew people had been campaigning on this issue for a very long time.

“My whole life I suffered from this disease that no one had heard of, and then one day I walked into a store and SMA was on the front page of the paper. It’s just the most surreal feeling,” she said. “We’ve been campaigning for years, but no one is listening, and it took someone famous to speak out and suddenly everyone is doing it.”

“It’s quite bittersweet,” said Charlie Mosey, mother of four-year-old Rupert, who has SMA1. “It’s fantastic that Jesy has helped raise awareness and get this in the media. But I think it’s a shame that it took a celebrity to get this publicized.”

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

“We are very close to many clinicians who have been campaigning for clinical trials for newborn screening for years and this continues to attract retaliation. But did Rupert been tested at birth, he would have such a different prognosis,” Mosey said.

A Department of Health and Social Care spokesperson 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 into newborn screening, and a call for research is now out. As part of a trial across 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.”