A mother from South Wales is urging the NHS to introduce a simple, £5 newborn test that she believes would have dramatically altered her son's life, sparing him the worst effects of a devastating muscle-wasting disease.
A Campaign for Change
Samantha Williams, 38, is giving her full support to The Mirror's campaign calling for the heel prick test for Spinal Muscular Atrophy (SMA) to be rolled out across the NHS. Her two-and-a-half-year-old son, Lucian Neale, was diagnosed with SMA Type 1 at just seven weeks old. This condition, without treatment, can have a life expectancy of around two years.
Soon after the diagnosis, Samantha and her partner, mechanic Justin Neale, 39, were told to prepare for palliative care. Against the odds, Lucian survived. He can now sit up unaided, stand with leg splints, propel his wheelchair, and has started saying his first words. He is due to start nursery in September.
"I wholeheartedly back the Mirror’s campaign to roll out the heel prick test," Samantha stated. "The later SMA is diagnosed, the more severe the symptoms. Days, even hours, count."
The Difference a Diagnosis Makes
Samantha, a supermarket worker from Sofrydd, Newport, emphasises that early treatment is crucial. "It not only saves lives but halts the muscle degeneration in its tracks. It’s incredibly hard to regain," she explained. "My son would be living a normal life now if he’d been given that heel prick test. Lucian’s quality of life is down to a £5 test."
The campaign gained further prominence after pop star Jesy Nelson revealed her seven-month-old twins, Ocean and Story, were diagnosed with SMA Type 1 following months of tests. Samantha said seeing Nelson's video "broke my heart," but offered a message of hope, noting her own son's progress against the dire initial prognosis.
Lucian's Fight for Life
Samantha's pregnancy with Lucian in October 2022 followed the tragic loss of another baby, Carson, at 30 weeks. Lucian was born by C-section at 37 weeks. Concerns arose early when he slept through the night immediately and, at five weeks, developed odd, chesty breathing.
"Then at five weeks and five days, he stopped moving at all or lifting his head," Samantha recalled. A Google search led her to SMA. Rushed to hospital, Lucian had a feeding tube inserted and genetic testing confirmed SMA Type 1 two weeks later.
Doctors warned it was time for palliative care. "He could only move his fingertips. I felt like the bottom dropped out of my world," Samantha said.
Seeking a second opinion at their local hospital in Cardiff, they were encouraged to try Risdiplam, an at-home oral medication. Within four days, Lucian showed slight movement. After 35 days in hospital learning complex care, Lucian was allowed home in August 2023. That October, he received "miracle" gene therapy.
"Over the months he started to sit independently. While he hasn’t hit milestones at the right time, he has some words, he goes around in his wheelchair and is a beautiful, happy, cheeky little boy," his mother said. "There’s no guarantee, but there is hope."
The family's story underscores the urgent call for the NHS to adopt this affordable screening, potentially preventing other children from facing similar battles with paralysis.
