Former Little Mix singer Jesy Nelson announced on Sunday that her twin daughters, Ocean Jade and Story Monroe Nelson-Foster, have been diagnosed with spinal muscular atrophy type 1 (SMA1). This announcement brings further public attention to SMA, a genetic neuromuscular disorder, as national discussions continue regarding screening and treatment for the condition in the UK.
Jesy Nelson's Announcement and Twins' Condition
Nelson, 34, confirmed the diagnosis via an Instagram video, stating that the medical prognosis for her daughters, born prematurely in May, indicates they are unlikely to develop the ability to walk or regain neck strength due to SMA1. She reported that both twins have received treatment for the condition, which she described as critical for survival. Nelson has stated her intention to raise awareness about SMA1 and the importance of early detection and timely medical intervention. She listed symptoms for parents to observe, including general floppiness, an inability to hold themselves up without support, a "frog-like" positioning of the legs with limited movement, and rapid breathing originating from the abdomen, urging immediate medical consultation if these signs are present.
The Diagnostic Journey
The diagnosis followed four months of hospital appointments for the twins. Initial concerns arose when Nelson's mother observed reduced leg movement in the infants, which was later followed by feeding difficulties. The couple had initially been advised that developmental delays could be plausible given the twins' premature birth. Nelson had previously disclosed complications during her pregnancy, including twin-to-twin transfusion syndrome (TTTS), a condition affecting 10-15% of identical twins who share a placenta. She underwent an emergency procedure and was hospitalized for ten weeks before delivering the twins prematurely at 31 weeks on May 15.
Understanding Spinal Muscular Atrophy (SMA)
Spinal Muscular Atrophy (SMA) is a rare genetic condition defined by progressive muscle weakness and loss of movement.
- Types and Characteristics: There are five types of SMA, with SMA type 1 being the most severe and prevalent form, and type 2 often allowing individuals to survive into adulthood.
- Prevalence: According to NHS figures, approximately 70 children are born with SMA annually in the UK. The National Institute for Health and Care Excellence (NICE) reports that SMA affects approximately one in 14,000 births globally. In 2023, an estimated 47 people were born with SMA in the UK, with 60% being type 1. The total number of people living with SMA in the UK is estimated to range from 683 to 1,366.
- Symptoms and Prognosis: For SMA type 1, without treatment, fewer than 8% of affected infants survive to two years of age. The charity SMA UK emphasizes that early detection is critical for improved outcomes in infants.
Treatment and Screening Initiatives
Since 2019, three new disease-modifying SMA medicines, including gene therapy, have been introduced on the NHS. These treatments include Zolgensma, a gene therapy drug approved by the NHS in 2021 for babies, which delivers a healthy copy of the affected gene. Its efficacy is considered time-sensitive due to the potential for irreversible nervous system damage. Risdiplam is another treatment available, taken daily for stabilization.
Currently, SMA is not included in the standard NHS newborn blood-spot screening test in the UK, which is typically offered to babies at five days old and screens for nine other rare but serious conditions. However, NHS Scotland initiated a two-year pilot program in September of the previous year to incorporate SMA into its newborn screening process. This initiative notes that babies treated before symptom onset could often follow normal developmental pathways. The UK National Screening Committee is evaluating whether to introduce universal SMA screening for all babies across the UK via a heel prick blood test.
Living with SMA: A Personal Account
Ben Morris, a 25-year-old BBC journalist, lives with Spinal Muscular Atrophy type 2. He was diagnosed on October 15, 2001, at approximately six months of age. Doctors initially informed his parents that he might not survive beyond two years old due to the severe impact of SMA on the respiratory system. Despite this prognosis, Morris was later described as a "survivor" by his neurologist.
Morris currently works as a journalist and lives independently with the support of personal care assistants. He utilizes an electric wheelchair for mobility and requires a ventilator overnight to assist with breathing. He manages his condition by taking the daily drug Risdiplam to maintain stability. His family received support from Spinal Muscular Atrophy UK (SMA UK) following his diagnosis. His father coordinated various support services, including wheelchair services, physiotherapy, neurology, and children's services, to ensure comprehensive care. His sister, Emily, born three years after him, does not have SMA but is a potential carrier of the altered gene.