Our children waited too long for same diagnosis as Jesy Nelson’s twins

Parents of babies born with a rare life-limiting condition say their diagnosis came months too late and after they 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; 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 left untreated.

The parents’ comments come days after former Little Mix star Jesy Nelson revealed that the twins she gave birth to prematurely last May had SMA. and “it’ll probably never work”.

The Welsh government said it was following 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 the committee’s future recommendations,” he said.

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

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

Dani’s father Charlie Brown, from Blackwood in Caerphilly, said Dani started showing symptoms when he was five months old but was diagnosed when he was 12 months old.

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

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

“Dani’s legs weren’t moving, she couldn’t move almost anything from her neck down,” he said, adding that she was treated quite late.

“If he had been screened and treated at birth, he could potentially be walking, running, playing and being just like your typical child.”

Mr Brown said Dani was now wheelchair-bound, “totally weak” and at constant risk of illness as his muscle wasting worsened.

Titled: “Nobody ever chooses this life. I don’t think anyone wants to put this life over anyone else. You wouldn’t put it over your worst enemy.”

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

There are four types of SMA, depending on the age at which symptoms begin and how it affects sitting, standing, and walking.

Most types of SMA are caused by an altered gene passed on to the child by his or her parents.

A blood test can be used to confirm a diagnosis of SMA, and there is currently no cure for this condition.

On Sunday, Nelson said in an Instagram video of her twin daughters, Ocean Jade and Story Monroe Nelson-Foster: there is a condition.

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

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

in videoNelson said her daughters weren’t showing as much movement in their legs as they should and were having trouble eating properly.

Samantha Williams, from Crumlin, near Pontypool, said Lucian was diagnosed with SMA at six weeks old after he developed symptoms in his womb.

“I was completely ignored. I started going to the GP from the age of four weeks. By the time I was five [weeks old] “He stopped carrying everything,” he said.

“I’ve been told I’m an overprotective mother, and that’s really frustrating.”

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

In 2018, the UK National Screening Committee (UK NSC) reviewed SMA screening and decided not to add it to this list as there was robust evidence of treatments and cost-effectiveness available at the time. annoyed.

In February 2025, the UK NSC approved an “in-service evaluation” (a pilot screening program) to collect UK-specific data.

But its launch was delayed because the National Institute for Health and Care Research (NIHR) was unable to find researchers until NHS England formally agreed to run a pilot; This is a prerequisite for starting the trial program.

NHS England said it currently supports further evaluation, adding that it was “committed” to making one-off treatments available as quickly as possible for all children and their families.

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

Giles Lomax, chief executive of the charity SMA UK, said: “Without early diagnosis and treatment, babies with the most severe forms of SMA can experience rapid and irreversible muscle weakness, which can lead 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 diagnosed and treated before symptoms appear have significantly better health outcomes.

“Many individuals are able to meet developmental milestones that would not be possible without early intervention. Once symptoms begin, damage to motor neurons is irreversible.”

A Welsh government spokesman 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 the UK NSC make a recommendation on whether SMA screening should be included as part of newborn blood spot screening programs across the UK.”

An estimated 47 babies will be born with the disease in the UK in 2024, according to SMA UK, but around one in 40 carry the altered gene that can cause the disease.