Auto Amazon Links: No products found. Blocked by captcha.
Rosie and Wes, residents of Driffield, East Yorkshire, share a poignant story about their two children, Marley and Meadow, both diagnosed with spinal muscular atrophy (SMA). This rare genetic disorder causes progressive muscle weakness, and without treatment, type 1 SMA can lead to death within two years. Marley, now five, was diagnosed at five months old after symptoms appeared, while Meadow, their four-month-old daughter, was identified at birth through screening. Consequently, their lives are taking markedly different paths.
Marley’s diagnosis came as a shock, and his condition requires significant daily support. Rosie explains, “Marley has to have respiratory support every single day. He cannot eat orally so he’s fed via a tube. He has a ventilator at night-time. He can’t walk or talk.” Despite receiving the gene therapy drug Zolgensma at 16 months, started well after symptom onset, irreversible nerve damage had already occurred. In contrast, Meadow’s early detection allowed for administration of the same therapy within weeks of birth. Rosie observes with hope, “She is already rolling over back to front and front to back at four months old.” Meadow is meeting developmental milestones and may lead a life with minimal medical intervention.
The family is advocating for nationwide newborn screening for SMA, a move supported by the charity SMA UK. Currently, screening is only performed if there is a sibling with the condition, leaving many undiagnosed until symptoms emerge. SMA UK estimates that approximately 47 babies in the UK were born with SMA in 2024, though about one in 40 people carry the altered gene. Given that early treatment can drastically improve outcomes, the couple believes that introducing a simple blood spot test as part of routine newborn screening could be transformative for many families.
Experts and advocates agree that broader screening is both feasible and ethically necessary. Professor Laurent Servais of the University of Oxford notes that many countries, including the US, Japan, and Australia, already test all newborns for SMA regardless of family history. He emphasizes that the testing process is “extremely easy to implement” and that early treatment can change children’s futures profoundly. Meanwhile, the UK National Screening Committee continues to review evidence for screening SMA, with plans for further assessments and a pilot programme scheduled to begin in Scotland in 2026. Rosie and Wes remain hopeful that such measures will prevent other families from enduring the struggle they faced with delayed diagnosis
Read the full article from The BBC here: Read More
Auto Amazon Links: No products found. Blocked by captcha.