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 screening of all newborns for the condition. Portia Thorman’s son, Ezra, was diagnosed with spinal muscular atrophy (SMA) as an infant and was given a grim prognosis of not living past age two. Despite challenges with movement, speech, and breathing, Ezra, now nine, stands as a beacon of hope for parents facing similar diagnoses, including pop star Jesy Nelson.
Portia advocates for newborn screening to enable early treatment before symptoms manifest, emphasizing that SMA is no longer a death sentence. SMA type 1, the most severe form of the disease, results from nerve cell breakdown in the brain and spinal cord, leading to impaired muscle control, breathing issues, and swallowing difficulties.
The Mirror has been advocating for SMA inclusion in the NHS newborn screening program, as currently, the test does not cover SMA despite its inclusion in screening programs in many developed countries. This advocacy aims to prevent needless paralysis in children.
Jesy Nelson recently revealed that her newborn twins were diagnosed late with SMA, resulting in mobility challenges. In a message to Jesy, Portia empathized with the initial shock of the diagnosis but highlighted the joy and unique perspective that children with SMA bring to their families.
Pharmaceutical company Novartis estimates that 33 UK babies annually end up in wheelchairs due to late SMA diagnoses. Ezra’s journey reflects the importance of early detection, as he was nearly lost multiple times in infancy due to undiagnosed SMA symptoms.
Though SMA was previously considered fatal, new treatments like Nusinersen (Spinraza) have emerged, offering hope for extending life expectancy. However, these treatments often come after irreversible damage has occurred, as seen in Jesy Nelson’s twins.
While the UK lags in newborn SMA screening compared to many countries, Scotland has taken a proactive step by incorporating SMA screening into routine newborn tests. Portia urges swift nationwide adoption of SMA screening in the UK to prevent delayed diagnoses and complex care needs in children.
Portia, along with her husband Dan and their children, continues to advocate for universal SMA screening, emphasizing the urgency of timely interventions to improve outcomes for affected children.