A mother whose son was one of the first babies worldwide to receive treatment for a severe muscle-wasting disease is supporting a campaign for mandatory testing for all newborns. Portia Thorman’s son, Ezra, was diagnosed with spinal muscular atrophy (SMA) as an infant, with doctors initially predicting a short life expectancy. Despite facing challenges with movement, speech, and breathing, Ezra, now nine years old, serves as a symbol of hope for families dealing with similar diagnoses.
Portia advocates for newborn screening to enable early intervention before symptoms manifest, emphasizing that SMA is no longer a terminal sentence. SMA type 1, the most severe form, results from nerve cell degeneration in the brain and spinal cord shortly after birth, leading to impaired muscle control and respiratory difficulties.
Recent efforts by the Mirror have shed light on the lack of SMA screening in the UK’s newborn heel prick test, a vital procedure that is standard in many other developed countries. The campaign urges the government to rectify this gap to prevent unnecessary paralysis in children.
Jesy Nelson, a former member of Little Mix, made headlines when she revealed the late diagnosis of SMA in her newborn twins, underscoring the urgent need for comprehensive screening measures. Portia empathizes with Jesy, acknowledging the initial shock but emphasizing the enduring joy and perspective shift that children with SMA bring.
Pharmaceutical company Novartis estimates that 33 UK infants annually suffer from delayed wheelchair dependence due to late SMA diagnosis. Ezra’s journey, marked by multiple near-death experiences in infancy, underscores the critical importance of early detection.
While SMA was once considered fatal, advancements in treatments like Nusinersen (Spinraza) have offered hope. Ezra was among the first beneficiaries of this drug, which boosts the production of a crucial motor neuron protein. Although Ezra’s initial treatment was privately funded, subsequent therapies are now available through the NHS to halt nerve damage progression.
Despite these advancements, many children still endure irreversible disabilities due to delayed diagnoses, exemplified by Jesy Nelson’s twins. The UK’s limited newborn screening, which overlooks SMA and other critical conditions, contrasts with more comprehensive screening protocols in other countries.
The UK’s National Screening Committee’s cautious approach to SMA screening has drawn criticism for its delay in adopting effective measures. While England’s screening rollout is postponed until 2031, Scotland has taken proactive steps to include SMA screening in routine tests from the upcoming spring.
Portia, along with her family, including her husband Dan and their children, advocates for nationwide SMA screening to prevent future cases of delayed diagnoses and complex care needs. She deems the current research-focused approach unethical, emphasizing the urgency of implementing widespread screening to safeguard all infants across the UK.
