Scandal of NHS England’s refusal to provide simple tests for newborns that can identify numerous conditions that can kill or cause severe disabilities – as Jesy Nelson’s twins receive heartbreaking diagnosis

The plight of Jesy Nelson’s twin babies has brought the NHS’ lacklustre infant screening programme into the spotlight – and revealed how failing to genetically test for a slew of rare diseases has left thousands of children living with severe disabilities or dying before they reach double digits.

Last Sunday, former Little Mix singer Jesy, 34, revealed that her eight month old daughters, Story and Ocean, had been diagnosed with spinal muscular atrophy (SMA), a rare genetic condition which causes muscle wasting.

The girls, who she welcomed prematurely with her fiancé Zion Foster in May last year, have Type 1 (SMA1) of the condition, which is the most severe, and will need 24-hour care for the rest of their lives.

It took several months for the girls to be diagnosed, with their symptoms dismissed by health visitors as being typical of babies born prematurely.

Speaking on This Morning on Tuesday, an emotional Jesy explained that the girls stopped kicking their legs as vigorously in the few weeks after she first brought them home from intensive care, and that their tummies became distended and bell-shaped, both typical symptoms of SMA.

She said: ‘When I watch back videos of them now from when I came home from NICU to now, they are moving their legs and then week two, week three it gets less and less and after a month it just stops.

‘And that’s how quick it is, and that is why it’s so important and vital to get treatment from birth.

‘When I took them home, I was focused on checking their breathing, checking their temperature, I wasn’t focused on checking if their legs were still moving.

‘I remember laying them down on their mat and thinking “isn’t their belly an unusual shape” and they breathe from their belly, and we were like ‘well that’s just because they are premature’ and that’s what’s frustrating.’

Giovanni Baranello, Professor of Paediatric Neuromuscular Disorders, Honorary Consultant in Paediatric Neuromuscular Diseases at Great Ormond Street, where Jesy’s twins were treated, told the Daily Mail that the girls had all the telltale signs of the disease. 

‘Parents of SMA1 babies notice at the beginning, in the first few weeks of life, that they were kicking or bending their legs, but then they started to just to keep them flat on the on the bed with very little movement,’ he said. 

‘And another very specific symptom is this tummy breathing. This is because the upper chest mass respiratory muscles are weaker, and they basically breathe with the diaphragm muscles. 

‘This makes the tummy muscles move quicker, and the chest takes this bell shape that is very typical of the condition. 

‘They are normally very bright and smart babies, so there is a huge contrast between their awareness of what is happening around them, and the very limited movements that they may be able to do, like moving their legs or holding their head upright.

‘Some struggle to keep their head upright and they just keep falling down when the parents keep them on their lap or on their shoulder.’

Despite being reassured the babies were fine, Jesy was convinced that something was wrong, and encouraged by her mother, convinced doctors that further investigations were warranted.

And unfortunately, she was right.

After four months of tests, the girls were diagnosed with SMA1, and began treatment, including gene replacement therapy which delivers a functional copy of the missing SMN1 gene straight into a baby’s body.

Professor Baranello explained that when it comes to gene replacement therapy, timing really is everything.

He said: ‘Type one is the most severe form where you have an early onset, usually in the first few months after birth.

‘Typically these children, without any treatment, will never acquire any major motor milestone, like sitting unsupported or standing or walking and they will just start to deteriorate progressively and to lose their strength.

‘Before we had the approval of gene therapy and the other treatments these children used to pass away before the age of two.

‘If they are treated immediately, in a few days, even sometimes one or two days after birth, they can be ‘normal’.’

But without access to newborn screening, a diagnosis can only take place once symptoms appear, which is usually within the first six months, at which point the damage caused to the baby’s muscles is irreversible.

As a result, even once treatment is initiated, most babies diagnosed with SMA will never walk independently, and many will need mechanical ventilation, nutritional support and 24/7 care.

Jesy admits that she will forever be wracked with guilt for not getting the twins diagnosed and treated sooner.

She said: ‘They’ve had treatment now, thank God, that is a one-off infusion.

‘It essentially puts the gene back in their body that they don’t have and it stops any of the muscles that are still working from dying. But any that have gone, you can’t regain them back.

‘We’ve been told that they will probably never walk. They’ll probably never regain their neck strength. They are going to be in wheelchairs.

‘I just want to reiterate that if this is caught from birth, it’s just life-changing.

‘I could have prevented this from happening if I’d have seen a video and caught it early enough.

‘I potentially could have saved their legs. I don’t think I’ll ever be able to get over or accept it. All I can do is try my best and make change.’

Frustratingly for Jesy and her partner, had their daughters been born in one of the many countries where SMA screening happens as standard, including the US, France, Germany, Ukraine or Russia, the condition would have been detected early enough for it to be reversed and they could have grown up living normal, healthy lives.

The UK is a global outlier in relation to newborn SMA screening, which is currently in place within the United States (in all states bar Nevada and Hawaii), Russia, Turkey, Qatar, Taiwan and Ukraine.

Furthermore, all babies born in France, Germany, Switzerland, Portugal, Denmark, Belgium, Norway, Czech Republic, Slovakia, Lithuania, Latvia, Estonia and Hungary are tested.

Other countries, such as Australia, Canada, Japan, Finland and Spain either offer the test regionally or are running pilot programmes with a view of rolling out screening nationwide.

Scotland has announced it will start screening babies for SMA from the spring, but the test is not currently available for newborns elsewhere in the UK.

At present, because it is genetic, the NHS only tests for SMA at birth if the baby’s sibling or a close relative of either parent has been diagnosed with, or had, the life-limiting condition – but often, the babies being born with SMA are the first in their families to have it. 

Professor Baranello said: ‘SMA is a recessive condition, meaning that the parents are, in the vast majority of cases, healthy carriers and they are not aware. 

‘They carry one faulty copy of the gene, but they have a one in four chance to have an affected baby if both the abnormal genes are inherited by the baby.

‘Typically these are the first cases in their families and there is no huge family history. 

‘If siblings are both affected, it’s just random genetics but we have had a few cases. 

‘Normally, the siblings inherit the same genetic variant.’ 

The preventative approach works, and Professor Baranello cites previous studies which have seen younger siblings be effectively cured of SMA by replacing the missing gene as quickly as possible.  

He said: ‘We have examples of children who have taken part in clinical trials with us [at GOSH] and in other in other countries, and children identified because they had a sibling affected, and after they were treated early they never showed the symptoms of SMA.’  

Jesy is now campaigning for SMA to be added to the NHS’ newborn blood spot screening test, also known as the heel prick test.

The test is offered to every baby at five days old, and involves taking a blood sample to find out if they have one of nine rare but serious health conditions, but at present SMA, which affects around 70 children born in the UK every year, isn’t one of them.

 At present, only Sickle Cell Disease (SCD), a blood disorder affecting red blood cells; Cystic Fibrosis (CF), which affects the lungs and digestive system; Congenital Hypothyroidism (CHT) which causes underactivity of the thyroid gland from birth and six Inherited Metabolic Disorders (IMDs) are tested for.

In 2018, the UK National Screening Committee (NSC) recommended against including SMA in the list of diseases screened for at birth.

They cited a lack of evidence which could show how effective a screening programme would be, limited evidence of how well the test for the condition performs, and a general lack of information about the total number of people affected by SMA.

Five years later, in 2023, the NSC announced that they would reassess newborn screening for SMA, and the following year they announced they were planning a pilot research study to evaluate whether SMA should be added to the list of diseases screened for at birth. 

It’s not just children who pay the price for a lack of SMA screening; the cost of caring for critically disabled children also becomes the responsibility of the NHS, with research from drugs manufacturer Novartis estimating that between 2018 and 2033, the cost to the NHS for not offering SMA screening will top £90m, and condemn 480 children to a ‘sitting state’.

And that’s the cost of just one type of disability – there are hundreds of others which also heap pressure on health services and support networks.  

Parents and campaigners have long called for more illnesses, diseases and conditions to be tested for at birth and a research project which commenced in 2024 could potentially prevent children and families of the future from being condemned to a life sentence of pain, angst and discomfort.

The Generation Study, which is being run by NHS England and Genomics England, aims to recruit up to 100,000 babies born in around 40 NHS hospitals in England, and screen them for more than 200 different genetic conditions. 

The test is simple and painless, with a blood sample taken from the baby’s umbilical cord shortly after birth.

The findings could provide enough evidence for health chiefs to agree that it’s worth increasing the scope of conditions tested for, and prove that earlier diagnosis can allow for life-changing early intervention and treatment before severe symptoms develop.

However, the research project has come too late for Jesy and thousands of other parents who have been told that their babies are seriously unwell or dying.

Among them are Susie and Justin Thorndyke whose son James died from severe combined immunodeficiency (SCID14042395), a genetic disorder that causes major abnormalities of the immune system.

Without extremely early intervention, children usually die within the first two years of their life – and little James passed away just five days before what would have been his first birthday. 

‘We couldn’t quite believe what was happening,’ Susie told the Daily Mail in 2024. 

‘It was surreal, devastating. Suddenly we were effectively watching our baby die.’

For while James did receive treatment in the form of a bone marrow transplant, it came too late, and his condition continued to deteriorate.  

Had James received a simple blood test at birth — a specialised version of the routine heel prick test offered to all newborns, the condition could have been diagnosed and treated early, with a 90 percent chance of long term survival.