Imagine being told your child might not live past their second birthday. That’s the devastating reality Jessy Nelson faced when her twin daughters were diagnosed with Spinal Muscular Atrophy (SMA) type one, a rare genetic condition that weakens muscles over time. But here’s where it gets controversial: Nelson is now advocating for mandatory SMA testing for all newborns, a move that could prevent irreversible damage but raises questions about healthcare resources and parental choice. Should every baby be screened, or is this a step too far? Let’s dive in.
As someone who’s lived with SMA for 25 years, I know firsthand the challenges and triumphs of this condition. Doctors predicted I wouldn’t make it past two, yet here I am, a BBC journalist living independently with the help of personal care assistants. My journey began when my parents noticed I wasn’t developing like other babies my age. While my peers were crawling and kicking, I was content just observing the world from my buggy. And this is the part most people miss: SMA isn’t just about muscle weakness; it’s a condition that impacts the respiratory system, making something as simple as a winter cold potentially life-threatening.
After a series of tests, I was diagnosed with SMA type two at 18 months old. My parents were connected with the Jennifer Trust (now Spinal Muscular Atrophy UK), a charity that provided invaluable support. Over the years, I’ve befriended others with SMA, sharing experiences and reminding each other that we’re not alone. Today, I rely on an electric wheelchair, a ventilator for shallow breathing at night, and a daily medication called Risdiplam to keep my condition stable. It’s a far cry from the grim prognosis I received as a toddler.
Here’s a bold statement: SMA isn’t a death sentence. With advancements like gene therapy (Zolgensma, approved by the NHS in 2021), babies diagnosed early can reduce muscle damage significantly. But it’s not a cure, and it’s only effective in newborns due to its impact on the kidneys. Scotland is leading the way by introducing routine SMA screening for babies this spring, but the UK’s National Screening Committee is still reviewing whether to roll it out nationwide. Why the delay? Is it cost, logistics, or something else entirely?
Let’s break it down further. SMA affects approximately one in 14,000 births worldwide, with about 47 babies born with the condition in the UK in 2023. There are five types, with type two allowing most individuals to survive into adulthood. Treatments like Zolgensma restore some of the missing survival motor neuron (SMN) protein, but they’re not accessible to everyone. And while I’ve achieved incredible things—racing at the London Stadium, speaking at 10 Downing Street, and earning a journalism degree—my story isn’t the norm. It’s a testament to early intervention, family support, and sheer determination.
My sister Emily, born three years after me, doesn’t have SMA but may be a carrier. She’s never treated me differently, though she jokes about always being taller (thanks to a spine surgery that stunted my growth). My dad, a project manager, took a systematic approach to coordinating my care, ensuring teams like physiotherapy and neurology worked together seamlessly. This level of organization allowed me to attend mainstream school, take the same tests as my peers, and socialize like any other kid.
Jessy Nelson’s twins may have a very different experience than I did, thanks to advancements in treatment. Success stories like Kim Tserkezie, Sally Kidson, and Shane Burcaw prove that a fulfilling life with SMA is possible. But the question remains: Are we doing enough to support families facing this diagnosis? Should SMA screening be mandatory, or is it a decision best left to parents and healthcare providers?
Here’s my challenge to you: What do you think about universal SMA screening for newborns? Is it a necessary step to save lives, or an overreach of medical intervention? Share your thoughts in the comments—let’s start a conversation that could shape the future of healthcare.
