The mother of one of the world's first babies treated for a devastating muscle-wasting disease has thrown her support behind a campaign demanding a simple NHS test that could prevent infants from being paralysed.
A Life Defying the Odds
Portia Thorman, 46, from Ramsgate, was told her son Ezra would not live past the age of two when he was diagnosed with spinal muscular atrophy (SMA) as an infant. SMA type 1, the most severe form, breaks down nerve cells in the brain and spinal cord in the first weeks of life, halting messages that control muscle movement.
Despite profound challenges with movement, speech, and breathing, Ezra is now nine years old. He cannot walk, is fed via a tube, and requires a nightly nurse to monitor his breathing. "We just need newborn screening now so that people can get treated before symptoms start. It’s not a death sentence any more," Portia told the Mirror.
The UK's Screening Lag
The Mirror has campaigned for two years to add SMA to the NHS newborn heel prick test. Currently, the UK test checks for only 10 serious conditions, compared to 48 in Italy and 29 in Poland. Forty-five countries, including the US and most of Europe, already screen for SMA.
This week, the campaign gained urgency after former Little Mix star Jesy Nelson revealed her newborn twins were diagnosed late with SMA and will never walk. Portia offered her support: "I would say it feels like the end of the world when you first get the news... Your life will have plenty of hurdles but it will still have plenty of joy."
A Race Against Time for Diagnosis
Ezra's own diagnosis came tragically late. At five weeks old, a cold landed him in intensive care on life support. Though health visitors and a GP check missed the signs, Portia knew something was wrong. Irreversible nerve damage was occurring. A breakdown at an NHS clinic finally led to a professional spotting a tell-tale wobbly tongue, a sign of SMA type 1.
The family was referred to London's Evelina Children's Hospital and given the devastating prognosis. However, they learned of a new drug, Nusinersen (Spinraza), being trialled. Ezra became one of the first children to receive it, a treatment now funded by the NHS alongside two other therapies that can halt nerve damage if given early.
The Ethical Dilemma of Delayed Rollout
Despite available treatments, the UK National Screening Committee has not approved nationwide SMA screening. It plans an NHS pilot in some areas of England to compare outcomes, with a full rollout not expected before 2031. NHS Scotland, however, will add SMA screening this spring.
Pharmaceutical firm Novartis estimates 33 UK babies a year are needlessly paralysed by late diagnosis. Portia, who gave up her teaching career to care for Ezra, condemns the delay: "The committee are insisting they want it to be a research project... This is ridiculous because the evidence internationally is already there. This is horrible and completely unethical."
She warns of a postcode lottery, stating: "I can’t imagine having a baby diagnosed late and then finding out babies just over the border had been screened." The call is clear: to prevent paralysis, screening must be universal across England, Wales, and Northern Ireland, not subject to further years of study.
