Urgent Plea for Universal Newborn Screening as Families Decry Delays in Spinal Muscular Atrophy Diagnosis

The protracted diagnostic journeys faced by numerous infants afflicted with Spinal Muscular Atrophy (SMA), a devastating neurodegenerative disorder, are drawing intense scrutiny, with parents asserting that critical opportunities for early intervention are being lost due to systemic screening limitations and medical oversight. This growing concern is underscored by recent public disclosures, including those from prominent figures, spotlighting a profound gap in early detection protocols across national health systems.

Spinal Muscular Atrophy represents a spectrum of genetic conditions characterized by the progressive degeneration of motor neurons in the spinal cord and brainstem, leading to severe and debilitating muscle weakness. Without timely and effective therapeutic intervention, the most aggressive forms of SMA can result in significant disability, respiratory failure, and, tragically, premature mortality, often within the first two years of life. The insidious nature of the disease means that early symptoms can be subtle, yet the window for optimal treatment efficacy is notoriously narrow, making rapid diagnosis paramount.

Families across the nation recount harrowing experiences marked by initial dismissal of their concerns, prolonged periods of uncertainty, and ultimately, diagnoses that arrived too late to prevent irreversible neurological damage. Dani-Rae Brown, from Blackwood, Caerphilly, exemplifies this challenging path. Her parents first observed troubling symptoms when she was merely five months old, noting a concerning inability to move her legs. Despite these early indicators, a definitive diagnosis of SMA was not established until she reached 12 months of age. This seven-month delay proved critical, as her father, Charlie Brown, poignantly articulated, "People weren’t paying attention enough. She was failed by the NHS because of how long it took to diagnose her." The progression of the disease during this period was relentless, escalating from leg immobility to widespread weakness affecting most of her body from the neck down. Today, Dani-Rae is reliant on a wheelchair, a stark outcome that Mr. Brown believes could have been mitigated, or even averted, had she received a diagnosis and treatment at birth. "Had she been screened at birth and treated," he posited, "potentially she could have been walking, running, playing and being your typical child." The family’s daily life is now dictated by managing her profound weakness and constant susceptibility to illness, a burden they feel no child or family should endure.

Similarly, Samantha Williams from Crumlin, near Pontypool, faced significant resistance when raising alarms about her son, Lucian Neale. Symptoms of SMA were evident even before his birth, manifesting during her pregnancy. Postnatally, Ms. Williams persistently approached healthcare providers from Lucian’s fourth week of life, noting a complete cessation of movement by five weeks. Her urgent pleas were met with skepticism, with medical professionals reportedly dismissing her as an "over-protective mum." Lucian eventually received his SMA diagnosis at six weeks old. While he is now two years old and responding well to treatment, Ms. Williams firmly believes his developmental trajectory would have been significantly improved had her initial observations been heeded. "I was completely ignored," she stated, highlighting the profound frustration and impact of medical disbelief on parental intuition.

These personal narratives echo recent public disclosures, including those from former Little Mix artist Jesy Nelson, who revealed that her prematurely born twins, Ocean Jade and Story Monroe Nelson-Foster, have also been diagnosed with SMA. Nelson described the condition as "the most severe muscular disease," affecting "every muscle in the body, down to legs, arms, breathing, swallowing." Her account of her daughters showing limited leg movement and struggling with feeding underscores the early signs that often go unrecognized or are misattributed in the absence of a comprehensive screening program.

The core of the issue lies in the current approach to newborn screening for rare conditions. In the United Kingdom, the National Health Service (NHS) offers a standard blood spot test, commonly known as the "heel prick test," to newborns at five days old. This test screens for nine specific rare but serious conditions. However, Spinal Muscular Atrophy is conspicuously absent from this routine panel. Screening for SMA is currently only performed if a baby has a known sibling already diagnosed with the condition, a reactive rather than proactive measure that inherently misses the majority of new cases.

The Welsh government has indicated that its policy aligns with recommendations from the UK National Screening Committee (UK NSC), which presently does not endorse routine universal newborn screening for SMA. A spokesperson stated, "We are working to improve diagnosis of rare conditions and will consider any future recommendations from the committee." This position reflects a broader UK-wide stance, which has come under increasing criticism from patient advocacy groups and medical experts alike.

SMA UK, a leading charity dedicated to supporting individuals affected by the condition, is at the forefront of the campaign to integrate SMA into the standard newborn screening panel. Giles Lomax, Chief Executive of SMA UK, emphasized the critical importance of early detection: "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." He stressed that the advent of effective treatments has fundamentally altered the prognosis for SMA, transforming it from a universally fatal or severely disabling condition into one where early intervention can dramatically improve outcomes. "Today, we have effective treatments for SMA. But timing is everything," Lomax asserted. "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."

The medical advancements in SMA treatment are indeed revolutionary. Historically, there was no cure, and management focused primarily on palliative care. However, in recent years, three transformative therapies have emerged:

1. Nusinersen (Spinraza): An antisense oligonucleotide that modifies the splicing of the SMN2 gene, increasing the production of functional SMN protein, which is deficient in SMA patients. Administered via intrathecal injection (into the spinal fluid), it has shown significant improvements in motor function and survival, particularly when started pre-symptomatically.
2. Onasemnogene abeparvovec (Zolgensma): A one-time gene therapy that delivers a functional copy of the SMN1 gene via an adeno-associated virus vector. This treatment aims to halt disease progression by enabling the body to produce the missing SMN protein. It is most effective when administered very early in life, ideally before symptom onset.
3. Risdiplam (Evrysdi): A small molecule drug taken orally daily, which also modifies SMN2 gene splicing to increase functional SMN protein levels. Its oral administration offers convenience and systemic distribution, benefiting various muscle groups.

The efficacy of these treatments is highly dependent on the timing of administration. Pre-symptomatic treatment can prevent the irreversible loss of motor neurons, allowing infants to achieve motor milestones that would otherwise be impossible. This scientific reality forms the bedrock of the argument for universal newborn screening.

The UK NSC’s cautious approach stems from its rigorous criteria for adding conditions to the national screening programme, which include considerations of the condition’s seriousness, the accuracy and reliability of the screening test, the availability of an effective treatment, and the overall cost-effectiveness and ethical implications. In 2018, when the UK NSC last reviewed screening for SMA, the committee decided against its inclusion due to perceived limitations in available treatments and robust evidence regarding cost-effectiveness. However, the therapeutic landscape has dramatically evolved since then, with the approval and demonstrable success of the aforementioned treatments.

In February 2025, recognizing these advancements, the UK NSC approved an "in-service evaluation," essentially a pilot screening programme, designed to gather UK-specific data on the feasibility and impact of newborn SMA screening. This was a significant step forward. However, the rollout of this crucial pilot has been inexplicably delayed. The National Institute for Health and Care Research (NIHR) has reportedly been unable to secure researchers for the evaluation because NHS England has not yet formally agreed to deliver the pilot, which is a prerequisite for initiating the trial programme. This bureaucratic inertia at a critical juncture is deeply concerning to families and advocates, who see it as a missed opportunity to prevent further suffering.

NHS England has stated its support for further evaluation, affirming its "determination to make one-shot treatments as quick as possible for all children and their families." The organization also highlighted the ongoing "NHS Generation Study," which is exploring the broader adoption of genomic sequencing as part of standard newborn screening, potentially including SMA testing. While these initiatives indicate a recognition of the problem, the tangible implementation of immediate, widespread screening for SMA remains elusive.

The global context further accentuates the UK’s lagging position. Several other developed nations, including parts of the United States, Germany, and other European countries, have already integrated SMA into their routine newborn screening programmes, recognizing the profound benefits of early detection. These international precedents demonstrate the practical viability and clinical imperative of such screening.

Beyond the direct medical outcomes, the economic and societal implications of delayed SMA diagnosis are substantial. The lifetime costs associated with managing severe SMA, including specialized equipment, ongoing therapies, hospitalizations, and social care, are immense. Furthermore, the emotional, psychological, and financial burden on families is immeasurable. Proponents of universal screening argue that the upfront investment in early detection and treatment could lead to significant long-term savings in healthcare costs and, more importantly, vastly improve the quality of life for affected individuals and their families. An estimated 47 babies were born with SMA in the UK in 2024, a relatively small number that makes the condition "rare," but the devastating impact on these families is profound. Given that approximately one in 40 people carry the altered gene that can cause SMA, the potential for future cases remains constant.

The current situation presents a critical ethical dilemma. With effective, life-changing treatments now available, the continued delay in implementing universal newborn screening for SMA means that some infants will inevitably endure preventable disability and suffering. The scientific and clinical evidence advocating for early detection is compelling, and the administrative hurdles appear increasingly untenable in the face of such high stakes. As families continue to share their experiences of delayed diagnoses and the irreversible consequences, the pressure on health authorities to act decisively and expeditiously is mounting, demanding a recalibration of priorities to ensure that no child waits too long for a diagnosis that could fundamentally alter their future.