Parents say babies failed by delayed diagnosis like Jesy Nelson’s twins

Parents of babies born with a life-limiting, rare condition say their diagnoses came months too late, and after they had initially raised the alarm about their symptoms.

Dani-Rae Brown was diagnosed with Spinal Muscular Atrophy (SMA) seven months after her first symptom and now has to use a wheelchair, while Lucian Neale was diagnosed at six weeks old despite showing symptoms in his mother’s womb.

SMA is a progressive muscle-wasting disease that can cause death within two years if untreated.

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

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

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

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

SMA UK, a charity which supports people affected by the condition, is calling on the NHS to include SMA on the list – as screening is only carried out on those who have a sibling with the condition.

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

“People weren’t paying attention enough,” he told BBC Radio Wales Breakfast.

“She was failed by the NHS because of how long it took to diagnose her.

“It went from Dani’s legs not moving, to pretty much from the neck down she couldn’t move anything,” he said, adding that she was treated quite late.

“Had she been screened at birth and treated, potentially she could have been walking, running, playing and being your typical child.”

Mr Brown said Dani now relied on a wheelchair, was “completely weak” and at-risk of illnesses constantly as muscle wasting got worse.

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

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

There are four types of SMA based on the age that symptoms begin and how they affect sitting, standing and walking.

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

A blood test 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 her twin girls – Ocean Jade and Story Monroe Nelson-Foster – have the condition.

She described it as the “most severe muscular disease”.

“It does affect every muscle in the body, down to legs, arms, breathing, swallowing,” she said.

In the video, Nelson said her daughters had not been showing as much movement in their legs as they should be, and were struggling to feed properly.

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

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

“I was told I was an over-protective mum which is really frustrating.”

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

In 2018, the UK National Screening Committee (UK NSC) reviewed screening for SMA and decided against adding it the list because, at the time, treatments and robust evidence on cost-effectiveness were limited.

In February 2025 the UK NSC approved an “in-service evaluation” – a pilot screening programme – to gather UK-specific data.

But a rollout has been delayed, despite positive progress, because the National Institute for Health and Care Research (NIHR) cannot find researchers until a range of health partners formally agree to deliver a pilot. This is a prerequisite for initiating the trial programme.

Among the agencies is NHS England which said it currently supported further evaluation, adding it was “determined to make one-shot treatments as quick as possible for all children and their families”.

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

Giles Lomax, chief executive of charity SMA UK, said: “Without early diagnosis and treatment, babies with the most severe forms of SMA can experience rapid and irreversible muscle weakness, leading to serious 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 can meet developmental milestones that would not have been possible without early intervention. Once symptoms begin, damage to motor neurons cannot be undone.”

A Welsh government spokesperson said: “We follow advice from 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 as to whether screening for SMA should be included as part of the newborn blood spot screening programmes across the UK.”

According to SMA UK, an estimated 47 babies were born with the condition in the UK in 2024, although about one in 40 people carry the altered gene that can cause the disease.