When former Little Mix star Jesy Nelson announced that her twin had been diagnosed with spinal muscular atrophy type 1 (SMA1), a rare genetic condition that causes muscle wasting, it quickly made front-page news.
The call to add spinal muscular atrophy to newborn screening drew national attention, and Health Secretary Wes Streeting was quick to respond, saying Nelson was “right to challenge and criticize how long it takes to get a diagnosis.”
“I am determined to look not only at screening for spinal muscular atrophy, but also to make better use of genomic medicine,” he said.
But for many families affected by spinal muscular atrophy, his intervention was bittersweet, with some saying their calls for the same kind of government action had been ignored for years.
Portia Thurman, head of advocacy and community at the UK charity SMA, said: “I’ve been trying to raise awareness about the need for newborn screening for about four years. We’ve written many letters to Wes Streeting, so it was like a kick in the teeth because he’s known about this for a long time.”
Her nine-year-old son Ezra has SMA1, ending up in intensive care as a newborn before being diagnosed, and the struggle they faced to get timely treatment has prompted her to continue to play a campaigning role on the issue.
“We have been largely ignored, especially by parliamentarians, and it is as if it is a rare disease and it does not affect the masses or affect their votes, they have actually ignored it,” she said.
Thurman added that Streeting had previously been invited to visit a pilot study of newborn screening for spinal muscular atrophy at Oxford University but declined.
Amy Moffat, whose five-year-old son, Oakley, was diagnosed with SMA1 at 10 weeks pregnant, said: “I think it’s complete negligence to not get the screening done yet – it’s been over six years of campaigning, and even more for some, of advocacy and talking to people and trying to get the message out there, and it’s been quite traumatic.”
“That it takes Jessie and her platform to raise awareness when people have been knocking on everyone’s doors for so long, it’s just so sad.”
She had to struggle to have her son’s symptoms taken seriously, before he was quickly treated with gene therapy that stopped his condition from getting worse. But he needs full-time care, including intensive physiotherapy and adaptation to his disability, which costs tens of thousands of pounds, and they have been raising money through the Tree of Hope platform to cover their expenses.
“He’s happy. He can do anything he wants. But we’ll have to talk to our kids about this one day and how different it would be if they were screened,” she said.
For which there is no cure, myocardial muscular dystrophy (SMA) causes muscle weakness and wasting over time, and if not treated, can affect movement, as well as breathing and swallowing. Type 1 It is the most serious form of the condition and without treatment, children live on average less than two years.
England does not screen newborns for spinal muscular atrophy, although the UK’s National Screening Committee has commissioned work to re-evaluate this, and Scotland has announced it will start screening in April.
Countries such as the United States, Germany, Japan and Ukraine have introduced screening, with around 10,000 to 14,000 babies born worldwide with SMA each year.
Molly Everett, 23, who is studying for a master’s degree in medical law at the University of Liverpool and has spinal muscular atrophy type 3, said the media narrative around the condition had been very negative, focusing too much on the negative aspects of the condition.
“So many of us with SMA have gone on to do really amazing things and live very full lives – having SMA doesn’t need to define your life,” she said.
She said it was difficult to bring this case to national attention, and she wanted to make sure the public knew that people had been campaigning about this for a very long time.
“My whole life I’ve had this unheard-of condition, and then I went into a store one day and SMA was on the front page of the newspaper. It’s just a very surreal feeling,” she said. “We campaigned for years but no one listened, and it took a famous person to speak out and suddenly everyone was listening.”
“It’s very bittersweet,” said Charley Musi, mother of four-year-old Robert, who has SMA1. “It’s great that Jesse helped raise the profile and get the news talking about it. But I think it’s a shame that it took so much fame to get it into the media.”
The family has raised more than £500,000 for clinical trials on spinal muscular atrophy since the birth of Robert, who was one of the first children in the country to receive gene therapy for spinal muscular atrophy.
“We are very close to a lot of doctors who have been campaigning for clinical trials of newborn screening for years, and it still faces continued opposition. But was Robert “If he had been tested at birth, he would have a different diagnosis,” Musi said.
A Department of Health and Social Care spokesperson said: “We are grateful to all those who have campaigned tirelessly on this issue, including SMA UK and the many families who have shared their experiences over the years. We have listened to their concerns and understood their frustration.”
“The UK National Screening Committee has recommended a large-scale study into newborn screening, and there is now a call for research. As part of a trial in the NHS, hundreds of thousands of babies will be screened for spinal muscular atrophy. We will continue to work closely with charities, doctors and families as this work progresses.”