Babies in the UK are facing unnecessary paralysis due to delays in testing for a muscle degenerative disease. Gene therapies offer a way to prevent newborns with spinal muscular atrophy (SMA) from becoming paralyzed if administered promptly at birth. Singer Jesy Nelson shared the experience of her twins losing leg function in the early weeks of life before receiving a delayed diagnosis and treatment.
To address this issue, a campaign led by the Mirror calls for the inclusion of an SMA test in the NHS newborn heel prick test. SMA patients have a genetic mutation affecting the SMN1 gene, leading to a lack of SMN protein crucial for nerve cell health and muscle function. Without this protein, motor neurons die off, causing muscles in various body parts to weaken.
While three treatments are available on the NHS to halt SMA progression, including Nusinersen (Spinraza), Evrysdi, and Zolgensma, timing is critical as these treatments cannot reverse nerve damage once it occurs. The lack of routine SMA screening for newborns in the UK sets it apart from other countries, with only a few regions implementing such tests.
Despite evidence supporting early treatment benefits, the UK National Screening Committee has delayed the decision to include SMA screening in the newborn testing program. The committee’s insistence on further studies has led to a delay in implementing national screening. However, NHS Scotland has taken the initiative to introduce SMA screening in their routine heel prick test.
The ongoing delay in conducting the necessary in-service evaluation may postpone the inclusion of SMA in routine screening until at least 2031. This delay raises concerns among medical professionals and experts regarding the ethical implications of not screening all babies for SMA.