Our kids waited too long for the same diagnosis as Jessie Nelson’s twins

Parents of babies born with the life-limiting, rare condition report receiving their diagnosis several months late, despite initial warnings about their symptoms.

Danny-Rae Brown was diagnosed with spinal muscular atrophy (SMA) seven months after her first symptoms and now has to use a wheelchair, while Lucian Neal was diagnosed at six weeks old despite showing symptoms in his mother’s womb.

SMA is a progressive muscle-wasting disease that can lead to death within two years if not treated.

Their parents’ comments come days after former Little Mix star Jesy Nelson revealed her twins, whom she gave birth to prematurely last May, have SMA and will “probably never walk.”

The Welsh Government said it follows the advice of the UK National Screening Committee, which does not currently recommend routine newborn screening to detect SMA.

It added, “We are working to improve the diagnosis of rare conditions and will consider any future recommendations from the committee.”

Currently, the NHS offers blood spot tests when a baby is five days old for nine rare but serious conditions.

SMA UK, a charity that supports people affected by the condition, is asking the NHS to add SMA to the list – as screening is only carried out on people who have a sibling with the condition.

Dani’s dad, Charlie Brown, from Blackwood, Caerphilly, said she started showing symptoms at five months old but was diagnosed at 12 months.

“People weren’t paying enough attention,” he said. bbc radio wales breakfast,

“He was failed by the NHS because of how long it took to diagnose him.

“Dani’s legs were not moving; even from the neck down, she was unable to move anything,” he said, adding that she was treated too late.

“If she had been examined and treated at birth, she probably would have been walking, running, playing and becoming your normal baby.”

Mr Brown said Dani is now wheelchair-dependent, “completely debilitated” and at constant risk of illness as the muscle wasting has worsened.

Chief: “No one would ever choose this life. I don’t think anyone would want to put this life on anyone. You wouldn’t put it on your worst enemy.”

According to the NHS, SMA is a rare genetic condition that can cause muscle weakness.

There are four types of SMA, depending on what age symptoms begin and how they affect sitting, standing, and walking.

Most types of SMA are caused by an altered gene that is passed on to a child by their parents.

Blood tests can be used to confirm an SMA diagnosis, and there is currently no cure for the condition.

On Sunday, Nelson said in an Instagram video that her twin girls, Ocean Jade and Story Monroe Nelson-Foster, have been diagnosed with the condition.

He described it as “the most serious muscle disease.”

“It affects every muscle in the body, from the legs to the arms to breathing to swallowing,” he said.

In the video, Nelson said her daughters’ legs don’t seem to move as much as they should, and they’re struggling to eat properly.

Samantha Williams, from Crumlin, near Pontypool, said Lucian was diagnosed with SMA when he showed symptoms in the womb when he was six weeks old.

“I was completely ignored. I started going to the GP at four weeks old. By five [weeks old], “He stopped moving everything,” she said.

“I’ve been told I’m an overprotective mother, which is really disappointing.”

Lucian is now two years old, and Williams said he is “doing really well” but “would be even better if they listened to me.”.

In 2018, the UK National Screening Committee (UK NSC) reviewed screening for SMA and decided against adding it to the list because, at the time, there was strong evidence on treatment and cost-effectiveness. Limited,

In February 2025, the UK NSC approved an “in-service assessment”—a pilot screening program— to gather UK-specific data.

But the rollout has been delayed because the National Institute for Health and Care Research (NIHR) could not find researchers until NHS England formally agreed to deliver a pilot – which is a prerequisite for starting the testing programme.

NHS England said it currently supports further evaluation, adding that it is determined to have a one-shot treatment for all children and their families as soon as possible.

A spokesperson said, “The NHS Generation Study is also evaluating whether genomic sequencing could be more widely adopted as part of standard newborn screening in the NHS, including testing for SMA.”

Giles Lomax, chief executive of the charity SMA UK, said: “Without early diagnosis and treatment, children with the most severe forms of SMA can experience rapid and irreversible muscle weakness, leading to severe disability and, in some cases, life-threatening complications.

“Today, we have effective treatments for SMA. But timing is everything. The evidence is clear: babies who are diagnosed and treated before symptoms appear have significantly better health outcomes.

“Many people can meet developmental milestones that would not have been possible without early intervention. Once symptoms begin, the damage to motor neurones cannot be undone.”

A Welsh Government spokesperson said, “We follow the advice of the UK National Screening Committee, which does not currently recommend routine newborn screening to detect SMA.

“The in-service evaluation in Scotland will help inform a recommendation from the UK NSC on whether screening for SMA should be included as part of newborn blood spot screening programmes across the UK.”

According to SMA UK, an estimated 47 children in the UK will be born with the condition in 2024, although one in 40 have the altered gene that can cause the disease.