The Call for SMA Screening: A Story of Advocacy and Neglect
The Impact of SMA on Families: A Heartbreaking Reality
Spinal muscular atrophy (SMA) is a rare genetic condition that causes muscle wastage and has a devastating impact on families. When Jesy Nelson announced her twins' diagnosis with SMA1, it sparked a national conversation about the need for newborn screening. But for many families affected by SMA, the call for action has been falling on deaf ears for years.
A Long-Fought Battle for Awareness
Portia Thorman, the head of advocacy and community at SMA UK, has been trying to raise awareness of the need for newborn screening for SMA for about four years. She has written many letters to Wes Streeting, the health secretary, but her efforts have been met with little response. Her son, Ezra, who is nine years old, was diagnosed with SMA1 and spent time in intensive care as a newborn. The struggle to get timely treatment led her to pursue a role in campaigning on the issue.
The Pain of Ignored Calls for Action
Amy Moffatt, whose five-year-old son, Oakley, was diagnosed with SMA1 at 10 weeks, has also been fighting for awareness. She had to battle to have her son's symptoms taken seriously before he was quickly treated with gene therapy. But the struggle to get timely treatment and the financial burden of full-time care, including extensive physiotherapy and adaptations for his disability, have been a constant source of pain. She has been fundraising money through the Tree of Hope platform to make ends meet.
The Media's Role in Shaping Perceptions
Molly Everitt, 23, who is studying for a master's degree in medical law at the University of Liverpool and has SMA type 3, said the media narrative around the condition had been very negative, focusing too heavily on the downsides of the condition. She believes that the national spotlight on SMA has been difficult to get her head around, and she wants to make sure the public knows people have been campaigning on this for a very long time.
The bittersweet Impact of Celebrity Advocacy
Charlie Mosey, mother to four-year-old Rupert, who has SMA1, believes that the national conversation about SMA has been bittersweet. She is grateful that Jesy Nelson has helped to raise the profile of SMA and get the news talking about it. But she also thinks it's a shame that it's taken a celebrity to get SMA into the media.
The Need for Newborn Screening
SMA has no cure, causes muscles to weaken and waste over time, and can affect mobility, breathing, and swallowing. Type 1 is the most severe form of the condition, and without treatment, babies on average live less than two years. England does not screen newborns for SMA, although the UK National Screening Committee has commissioned work to reassess this. Scotland has announced it will start screening in April, and countries like the US, Germany, Japan, and Ukraine have already introduced screening.
The Call for Action Continues
The Department of Health and Social Care spokesperson has acknowledged the efforts of those who have campaigned tirelessly on this issue, including SMA UK and the many families who have shared their experiences over the years. They have heard their concerns and understand their frustration. The UK National Screening Committee has recommended a large-scale study into newborn screening, and a call for research is now live. As part of a trial in the NHS, hundreds of thousands of babies will be screened for SMA. The department will continue to work closely with charities, clinicians, and families as this work progresses.
