A parent of one of the initial infants worldwide to undergo treatment for a severe muscular degenerative illness is supporting the Mirror’s campaign advocating for a crucial screening test for all newborns. Portia Thorman, mother of Ezra, diagnosed with spinal muscular atrophy (SMA) as an infant, was informed that he might not live past two. Despite challenges with movement, speech, and breathing, Ezra, now nine, symbolizes hope for other parents facing similar diagnoses, like pop artist Jesy Nelson.
Portia, aged 46 from Ramsgate, emphasized the necessity for newborn screening to enable early treatment initiation before symptoms manifest, transforming what was once viewed as a terminal prognosis into a manageable condition. SMA type 1, the most severe form, results from nerve cell deterioration in the brain and spinal cord early in life, disrupting communication between the brain and muscles, severely restricting movement, and causing breathing and swallowing difficulties.
The Mirror has been advocating for the inclusion of SMA in the NHS newborn screening program, as most developed nations have already adopted it. The campaign urges the government to implement this change to prevent unnecessary paralysis in children.
Jesy Nelson, former Little Mix member, recently revealed that her twins were diagnosed late with SMA, leading to irreversible mobility impairments. Portia empathized with Jesy, highlighting the initial shock and subsequent adjustment to a new reality when receiving such news, emphasizing the enduring joy that these children bring despite the challenges.
Pharmaceutical company Novartis estimates that around 33 UK infants annually require wheelchairs due to delayed SMA diagnoses. Ezra’s journey, marked by numerous life-threatening episodes in his early years, underscores the critical importance of early detection and intervention to prevent irreversible nerve damage and disabilities.
While SMA was previously considered a fatal condition, the introduction of innovative treatments like Nusinersen (Spinraza) has offered a lifeline for affected children, including Ezra. Despite the progress, the delayed implementation of comprehensive newborn screening for SMA in the UK compared to other countries remains a concern, with potential solutions like gene therapies awaiting further research and pilot testing before full-scale adoption.
Portia, along with her family, continues to advocate for nationwide newborn screening for SMA, emphasizing the urgency to prevent unnecessary suffering and disabilities in infants. The decision-making process surrounding SMA screening in the UK remains under scrutiny, with Scotland taking proactive steps to incorporate SMA screening into routine tests.
In conclusion, the push for comprehensive SMA screening in the UK reflects a global effort to enhance early detection and intervention strategies, ensuring that children like Ezra have access to life-changing treatments from the outset.