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

Parents of babies born with a life-limiting rare disease say their diagnosis was made months late and after they initially raised alarm about their symptoms.

Dani-Rae Brown was diagnosed with spinal muscular atrophy (SMA) seven months after first showing symptoms and now relies on a wheelchair, while Lucian Neil was diagnosed at six weeks despite having symptoms in the womb.

SMA is a progressive disease that causes muscle wasting and can lead to death within two years if left untreated.

Their parents' comments come days after former Little Mix star Jesy Nelson revealed she had twins born prematurely who may have SMA. and “probably will never walk”.

The Welsh Government said it was following the advice of the UK National Screening Committee, which does not currently recommend routine newborn screening for SMA.

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

The NHS currently offers a five-day-old baby's blood test for nine rare but serious conditions.

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

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

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

“The NHS turned her down because it took so long to get a diagnosis.

“It started with Dani’s legs not moving, and practically from her neck down she couldn’t move anything,” he said, adding that she received help quite late.

“If she had been tested at birth and treated, she could potentially walk, run, play and be your typical baby.”

Mr Brown said Dani now uses a wheelchair, is “completely weak” and is at constant risk of illness as muscle wasting worsens.

He added: “No one would ever choose this life. I don't think anyone would want to put this life on anyone. You will not lay it on your worst enemy.”

According to the National Health Service, SMA is rare genetic disease this may cause muscle weakness.

There are four types of SMA, depending on the age at which symptoms begin and how they affect 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 the diagnosis of SMA, and there is currently no cure for the disease.

On Sunday, Nelson revealed in an Instagram video that her twin girls, Ocean Jade and Story Monroe Nelson-Foster, have a fortune.

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

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

In the videoNelson said her daughters weren't moving their legs as much as they should be and were having a hard time eating normally.

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

“I was completely ignored. I started seeing a therapist at four weeks. By five [weeks old] he stopped moving everything,” she said.

“I've been told I'm an overprotective mom and it's very frustrating.”

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

In 2018, the UK National Screening Committee (UKNSC) reviewed screening for SMA and decided not to add it to the list because treatments and robust cost-effectiveness evidence were not available at the time. limited.

In February 2025, the UK NSC approved a 'operational assessment' – a pilot testing program – to collect UK-specific data.

But the implementation was delayed despite positive progressbecause the National Institute for Health and Care Research (NIHR) cannot find researchers until a number of health partners formally agree to carry out the pilot. This is a prerequisite for starting the test program.

Agencies include NHS England, which said it currently supports further evaluation, adding that it is “committed to providing one-time treatment to all children and their families as quickly as possible.”

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

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 serious disability and in some cases life-threatening complications.

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

“Many can reach developmental milestones that would not have been possible without early intervention. Once symptoms appear, the damage to the motor neurons cannot be reversed.”

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

“The in-service assessment in Scotland will help inform the UK National Security Committee's recommendations on whether SMA screening should be included in newborn blood screening programs across the UK.”

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