A mother whose son was among the first infants worldwide to receive treatment for a severe muscle-wasting disease is supporting a campaign calling for mandatory screening of all babies for the condition. Portia Thorman’s son, Ezra, was diagnosed with spinal muscular atrophy (SMA) as a baby and was initially given a grim prognosis of not living past age two. Despite facing challenges with movement, speech, and breathing, Ezra, now nine years old, stands as a beacon of hope for families dealing with SMA diagnoses, including pop star Jesy Nelson.
Portia advocates for newborn screening to enable early intervention before symptoms manifest, emphasizing that SMA is no longer a death sentence. SMA type 1, the most severe form, results from nerve cell breakdown in the brain and spinal cord early in life, leading to impaired muscle movement and difficulties with breathing and swallowing.
The Mirror has been championing a campaign urging the UK government to include SMA in newborn screening tests, as currently, the NHS does not test for SMA despite its inclusion in screenings in many other developed countries. This initiative aims to prevent unnecessary paralysis in children.
Jesy Nelson recently shared the late diagnosis of her twins with SMA, reinforcing the importance of early detection and treatment. Portia empathetically advises parents facing similar circumstances, highlighting the emotional journey of accepting and adapting to the challenges while finding joy in their children’s presence.
Pharmaceutical company Novartis estimates that 33 UK babies annually are left wheelchair-bound due to delayed diagnoses. Ezra’s health struggles began at just five weeks old, leading to numerous life-threatening incidents before the SMA diagnosis. Early treatment with Nusinersen, also known as Spinraza, has significantly improved Ezra’s quality of life, and subsequent therapies have been introduced to halt nerve damage progression.
Despite advancements in SMA treatments, the issue lies in delayed diagnoses resulting in irreversible damage, as seen in Jesy Nelson’s twins. While the UK lags in SMA screening compared to other countries, efforts are being made to introduce screening, with Scotland set to implement it soon. However, delays in nationwide implementation raise concerns regarding the ongoing impact on affected families.
Portia, along with her family, continues to advocate for comprehensive newborn screening across the UK to prevent more children from suffering due to late diagnoses. She stresses the urgency of implementing screening nationwide to ensure all babies have equal access to early detection and treatment, emphasizing the ethical imperative of prioritizing children’s well-being over research considerations.