What is SMA? The rare genetic condition that Jesy Nelson’s twins have
Former Little Mix star revealed her twin daughters had been diagnosed with Spinal Muscular Atrophy (SMA) Type 1
Former Little Mix star Jesy Nelson revealed her twin daughters, Ocean Jade and Story Monroe Nelson-Foster, had been diagnosed with Spinal Muscular Atrophy (SMA) Type 1, a rare genetic condition that may prevent them from ever walking.
The 34-year-old singer, who welcomed the twins prematurely last May with fiancé Zion Foster, revealed the diagnosis in an emotional Instagram video earlier this month, detailing the "gruelling three/four months" leading up to the discovery.
Nelson explained that after an "endless" series of appointments, her daughters were confirmed to have "a severe muscle disease called SMA Type 1."
She has since started to campaign for SMA1 screenings to happen from birth and started a petition to get the condition added to the newborn blood spot screening test, also known as the heel prick test.
In an emotional conversation with Health Secretary Wes Streeting on ITV’s This Morning, Nelson said: “It’s just madness to me that we are living in a day and age now where we have got three treatments that are life changing, and it’s still not part of the heel prick test.
“There’s going to be so many more babies that are going to be diagnosed with this and so many families that are going to have to experience what I’m going through right now when it doesn’t need to be happening.”
Recalling the prognosis from Great Ormond Street Hospital, Nelson shared the heartbreaking reality: "we were told that they’re probably never going to be able to walk, they probably will never regain their neck strength, so they will be disabled, so the best thing we can do right now is to get them treatment, and then just hope for the best."
She expressed profound gratitude that her daughters have received treatment, acknowledging that "if they don’t have it, they will die," but noted the relentless nature of their medical journey, feeling "the hospital has become my second home."
To shed light on this challenging condition, the Press Association spoke with Giles Lomax, CEO of Spinal Muscular Atrophy UK (SMA UK), who provided a comprehensive overview of SMA, its various types, and crucial early indicators.
Lomax described SMA as "a rare neuromuscular condition" affecting approximately "one in 14,000 births per year," characterised by "the loss of motor function across the whole body." He clarified its genetic and hereditary nature, explaining that "there’s a one in four chance that your mum and dad could pass on the faulty SMN1 genes, which is what then means that you have SMA."
There are four primary types of SMA, each with distinct characteristics.
Type 1, the most severe form, typically manifests in babies under six months old. Lomax noted that "babies with this tend to be really floppy infants that have difficulty breathing, coughing and swallowing," and "tend to never sit and don’t go past the lying phase."
Type 2 usually emerges between six and 17 months, with affected children often able to sit but unable to stand or walk. They may experience "big motor development, weaknesses and difficulty in coughing and potentially have scoliosis in their spine."
Type 3 is diagnosed in older children who initially follow normal developmental paths but may begin to lose the ability to walk after three years.
The rarest form, Type 4, develops in adulthood (18 years and above) and is often milder in physical capabilities but remains a serious condition, proving challenging to diagnose due to potential overlaps with other conditions.
While each case varies, Lomax highlighted several key signs of SMA Type 1. "Floppiness" is a significant indicator, particularly if a baby struggles to lift their head or has difficulty feeding. "Belly breathing," where breathing is more abdominal than in the upper chest, is another common symptom.
Additionally, these infants often exhibit "abnormally low muscle tone" in their limbs, meaning "they don’t kick and wiggle their arms" as expected.
Diagnosis of SMA is confirmed via a blood test to identify the faulty SMN1 gene. Lomax stressed the importance of early detection and treatment, stating that "if babies have that blood test done really early and are given the disease modifying therapies, in many cases these children can grow up to follow normal development pathways."
However, without treatment, the prognosis for Type 1 is grim, with "the likelihood of them surviving past two is very slim." Individuals with SMA often face a multitude of health challenges due to weakened muscles, especially respiratory ones.
This makes them susceptible to infections, as they "can’t cough as well," leading to frequent hospital admissions, particularly for Type 1 children who struggle to clear secretions. Living with SMA profoundly impacts daily life, necessitating numerous hospital appointments across various specialities, including occupational therapy, physiotherapy, and neurology, alongside reliance on equipment such as orthotics, spinal braces, respiratory aids, wheelchairs, and housing adaptations.
Fortunately, three disease-modifying therapies are available in the UK. Zolgensma is a "one-time infusion" gene therapy administered to babies under 12 months old. Risdiplam is an oral medication taken daily for life, suitable for patients from infancy to adulthood. The third option, Nusinersen, is an injection directly into the spinal cord, required every three to four months for life.
Jesy Nelson's candid revelation underscores the profound challenges faced by families navigating a diagnosis of Spinal Muscular Atrophy. While the journey ahead for Ocean Jade and Story Monroe will undoubtedly be arduous, the availability of disease-modifying therapies offers a beacon of hope, transforming the outlook for children born with this rare and severe condition.
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