The Fight for SMA Screening: A Story of Neglect and Awareness
The announcement that Jesy Nelson's twins had been diagnosed with spinal muscular atrophy type 1 (SMA1) brought a rare genetic condition into the spotlight. But for many families affected by SMA, the call for SMA screening has been ignored for years. Portia Thorman, whose son Ezra has SMA1, has been campaigning for newborn screening for four years, writing letters to the health secretary, Wes Streeting. Yet, her efforts and those of many others have been met with little action.
Thorman's struggle is not unique. Many families have faced similar challenges, with SMA being a rare disease that doesn't impact the masses or their votes. The media narrative around SMA has been negative, focusing on the downsides of the condition. But Molly Everitt, who has SMA type 3, believes that SMA doesn't need to define one's life, and many with SMA have gone on to do amazing things.
The intervention of a celebrity like Jesy Nelson has raised awareness, but it's bittersweet. Charlie Mosey, whose son Rupert has SMA1, is grateful for the increased attention but wishes it hadn't taken a celebrity to get it into the media. The family has raised over £500,000 for clinical trials, and Rupert was one of the first infants in the country to receive gene therapy for SMA.
The Department of Health and Social Care acknowledges the efforts of campaigners and families, and the UK National Screening Committee has recommended a large-scale study into newborn screening. However, the process has been slow, and many families feel neglected. The question remains: will the addition of SMA to newborn screening finally become a reality?
