A child’s parent has criticized the NHS for not testing for a muscle wasting disease at birth, leading to severe disability. The Mirror has launched a campaign advocating for spinal muscular atrophy (SMA) to be included in the newborn heel prick test in the UK. Ollie Williams, a five-year-old boy, suffered significant health issues due to a delayed SMA diagnosis, resulting in the deterioration of his motor neurons.
Concerned about the impact of delayed diagnoses, Ollie’s parents urge for broader screening to prevent similar cases. While Scotland is set to implement SMA screening for all newborns, the UK National Screening Committee has opted for a pilot program, creating disparities in screening practices across different regions.
The committee’s cautious approach has drawn criticism for causing unnecessary disability and even fatalities. The delayed diagnosis of Jesy Nelson’s twins, who were diagnosed late with SMA, underscores the urgent need for comprehensive screening measures.
Ollie, diagnosed with Type 1 SMA, requires extensive medical support, including oxygen assistance and specialized equipment. Despite challenges, the family remains hopeful, especially after the recent birth of Ollie’s sister, Hailey, who was fortunate to undergo screening due to familial history of SMA.
The ongoing debate about SMA screening highlights the need for timely interventions to prevent lifelong disabilities. The lack of universal screening in the UK contrasts with practices in other developed nations, where SMA testing is standard procedure. The government’s emphasis on research delays the implementation of widespread screening, impacting the lives of affected children and families.
Novartis estimates that 33 UK babies annually face unnecessary disabilities due to delayed diagnoses. The disparity in screening practices between the UK and other countries underscores the urgency for comprehensive newborn screening programs.
Despite advancements in SMA treatments, early detection remains crucial for effective management. The Department of Health and Social Care acknowledges the importance of swift diagnoses and support for families affected by SMA, emphasizing ongoing efforts to enhance screening protocols.