A mother whose son was one of the first babies globally to receive treatment for a severe muscle wasting disease is supporting The Mirror’s campaign for mandatory testing of all newborns for the condition. Portia Thorman, from Ramsgate, advocates for newborn screening to allow early intervention before symptoms manifest, emphasizing that the disease is no longer a death sentence.
Spinal Muscular Atrophy (SMA) type 1, the most severe form of the disease, results from nerve cell breakdown in the brain and spinal cord shortly after birth, impacting muscle movement and causing breathing and swallowing challenges. The Mirror has been advocating for SMA inclusion in the NHS newborn heel prick test, highlighting the need for preventive measures to avoid unnecessary paralysis in children.
Former Little Mix singer Jesy Nelson recently revealed that her newborn twins were diagnosed late with SMA, leading to irreversible mobility limitations. Portia empathizes with Jesy, acknowledging the initial shock and grief upon diagnosis but emphasizing the joy and perspective these children bring to their families.
Statistics from Novartis indicate that about 33 UK infants annually require a wheelchair due to delayed SMA diagnosis. Ezra, Portia’s son, faced numerous health challenges from infancy, narrowly escaping death multiple times before receiving a groundbreaking treatment called Nusinersen. While advancements in treatments have been made, the timing of diagnosis remains critical to prevent irreversible nerve damage and disability.
Despite international standards recommending SMA screening for newborns, the UK lags behind, with plans for nationwide screening not expected until 2031. However, NHS Scotland has taken a proactive step by incorporating SMA screening into routine tests starting in the spring. Portia urges for a unified screening approach across England, Wales, and Northern Ireland to ensure no child misses the opportunity for early intervention.
The delays in implementing widespread screening are concerning to Portia, who stresses the urgency of preventing late diagnoses and complex care needs. She criticizes the decision to conduct research trials on screening effectiveness, citing existing international evidence supporting the necessity of early detection. The call for nationwide screening aims to ensure all babies have equal access to timely intervention, regardless of their location.