Parents of SMA-Affected Babies Demand Timelier Diagnoses Following Jesy Nelson’s Revelation

Parents of infants diagnosed with a rare life-threatening condition are expressing their frustration over delayed diagnoses that came long after they flagged concerning symptoms. Dani-Rae Brown was diagnosed with Spinal Muscular Atrophy (SMA) a full seven months after her initial symptoms appeared, resulting in her reliance on a wheelchair. Meanwhile, Lucian Neale was diagnosed at just six weeks old, despite showing symptoms while still in the womb.

SMA, a progressive condition characterized by muscle wasting, can lead to death within two years if left untreated. The parents’ statements emerge shortly after former Little Mix member Jesy Nelson disclosed that her prematurely born twins, welcomed in May, are affected by SMA and may never walk.

Government Response and Screening Procedures

The Welsh government has stated that it adheres to guidelines set by the UK National Screening Committee, which does not advocate for routine newborn screening for SMA at this time. In their response, they emphasized their commitment to enhancing the diagnosis of rare conditions and will consider future recommendations from the committee.

Currently, the NHS provides a blood spot test at five days old to screen for nine rare but critical conditions. SMA UK, a charity dedicated to supporting individuals affected by the disease, is urging the NHS to add SMA to this screening list, as testing is presently only conducted for infants with a sibling diagnosed with the condition.

Personal Stories Highlighting the Need for Change

Charlie Brown, Dani’s father from Blackwood in Caerphilly, shared that she began showing symptoms at five months, yet was not diagnosed until she turned one. “People weren’t paying enough attention,” he remarked. “The NHS failed her due to the lengthy diagnosis process, which transitioned from Dani’s legs being immobile to a point where she lost movement from the neck down. Had she been screened at birth, she might have been able to walk and play like other children.”

According to Mr. Brown, Dani now relies entirely on a wheelchair and is at great risk of frequent illnesses due to worsening muscle weakness. He expressed, “No one would choose this existence; it’s a life no one would wish upon anyone, not even their worst foe.”

Understanding Spinal Muscular Atrophy

The NHS describes SMA as a rare genetic disorder that leads to muscle weakness. There are four variations of SMA, categorized by the age of onset and the severity of its impact on functions like sitting, standing, and walking. Most cases arise from a mutated gene inherited from parents.

A blood test can confirm the presence of SMA, but there is currently no cure available. In an Instagram video, Nelson shared that her twin daughters, Ocean Jade and Story Monroe Nelson-Foster, have been diagnosed with the disease, which she characterized as the “most severe muscular disease.”

In her video message, she noted that her daughters were not moving their legs as expected and faced difficulties with feeding. Samantha Williams, from Crumlin near Pontypool, recounted that her son Lucian was diagnosed with SMA at six weeks after exhibiting symptoms during her pregnancy. “I was dismissed. I sought medical advice from four weeks old, and by five weeks, he had ceased all movement,” she shared.

Calls for Enhanced Screening and Research

Despite Lucian now thriving at two years old, Williams believes he could have been in an even better condition had her concerns been acknowledged sooner. In 2018, the UK National Screening Committee reviewed the possibility of including SMA in routine screenings but decided against it due to limited treatment options and insufficient cost-effectiveness evidence.

Recently, the committee approved a pilot screening program designed to gather specific data for the UK, but the rollout has been stalled. This delay is due to the National Institute for Health and Care Research’s ongoing search for researchers willing to collaborate with various health organizations to implement the trial.

Among the stakeholders is NHS England, which has expressed its commitment to facilitating timely treatments for all affected children and families. A spokesperson mentioned, “The NHS Generation Study is also assessing the potential for broader adoption of genomic sequencing as part of standard newborn screenings, including SMA testing.”

The Urgency of Early Intervention

Giles Lomax, CEO of SMA UK, emphasized the critical need for early diagnosis and intervention. “Without timely treatment, babies with severe SMA can suffer from rapid and irreversible muscle deterioration, leading to significant disabilities and, in some cases, life-threatening complications. Evidence shows that those diagnosed and treated before symptoms emerge tend to have far better health outcomes,” he stated.

Lomax noted that early intervention can enable many children to achieve developmental milestones that would otherwise be impossible. Once symptoms manifest, however, the damage to motor neurons becomes irreversible.

A spokesperson for the Welsh government reiterated their adherence to the UK National Screening Committee’s guidance, stating that the ongoing evaluation in Scotland would help inform future decisions regarding the inclusion of SMA in newborn blood spot screening programs across the UK. According to SMA UK, around 47 babies were born with the condition in the UK in 2024, while approximately one in 40 individuals carries the gene that can lead to this disease.