This week, singer Jessy Nelson opened up about a deeply personal issue: her twin daughters have been diagnosed with Spinal Muscular Atrophy (SMA) type one, a condition that weakens muscles. As a former member of Little Mix, she is now advocating for universal testing for SMA at birth—a critical intervention that can prevent irreversible nerve damage in infants.
Ben Morris, a BBC journalist living with SMA, shares his own journey with this condition, emphasizing the challenges and triumphs he has faced.
"When my parents first noticed I wasn't developing like other babies, it was a concerning moment for them," Ben recounts. At around six months old, while other children were kicking and crawling, he preferred to observe from his buggy. Concerned about his development, his parents consulted a doctor, who initially dismissed their worries. However, after a simple test where Ben fell over without attempting to catch himself, the doctor's reaction changed dramatically. "Oh," he said, realizing something was amiss.
On October 15, 2001, after further examinations, a neurologist confirmed that Ben had SMA type two and sadly informed his parents that he might not survive past age two. Yet, in early 2002, during a follow-up visit, the neurologist noted Ben's laughter and curiosity, dubbing him a "survivor."
SMA significantly affects the respiratory system, making common winter ailments like colds potentially life-threatening for those affected. Thankfully, Ben’s family found support through the Jennifer Trust (now known as Spinal Muscular Atrophy UK), which provided valuable resources and helped him connect with others facing similar challenges.
Defying expectations, Ben is now thriving at 25 years old, working as a BBC journalist and living independently with the assistance of personal care aides. His electric wheelchair allows him to navigate public transport comfortably, eliminating the need to stand on crowded trains, which he considers a significant advantage.
At night, he relies on a ventilator due to shallower breathing, a routine he finds normal, even if it might be daunting to others. He takes a daily medication called Risdiplam to manage his condition, which stabilizes his health. Unlike Zolgensma, a gene therapy approved by the NHS that must be administered early in life due to potential kidney side effects, Risdiplam can be taken later.
For those unfamiliar with SMA, there are key points to understand:
Definition: The NHS defines SMA as a rare genetic disorder that causes progressive muscle weakness. While there are several types of SMA, treatment options are available to assist in managing symptoms, especially for type two, where many individuals live into adulthood.
Prevalence: According to NICE, SMA affects approximately one in every 14,000 births globally. In 2023 alone, around 47 babies in the UK were born with SMA, with 60% diagnosed with type one. Currently, the total number of people living with SMA in the UK is estimated to be between 683 and 1,366.
Treatment Options: Gene therapy like Zolgensma aims to restore the missing survival motor neuron (SMN) protein essential for muscle function. Although it is not a cure, administering it to newborns can significantly reduce muscle degeneration.
Testing Initiatives: Scotland is set to implement routine screening for SMA in newborns starting this spring, and the National Screening Committee is evaluating the possibility of expanding this testing across the rest of the UK.
Ben's sister Emily, born three years later in 2003, does not have SMA but may carry the gene responsible for the condition. Despite her brother's challenges, she has always treated him like any sibling, although she jokingly relishes the fact that she will always be taller than him due to his scoliosis surgery, which halted his growth.
Ben's father adopted a project management approach to navigate the various support services required for Ben's care. He coordinated meetings among different healthcare teams, ensuring they collaborated effectively rather than working in isolation.
Ben attended a mainstream primary school where a teaching assistant supported him throughout the day—not academically, but to help him engage with the curriculum. He participated fully in school activities, socializing with peers and completing assignments like everyone else.
This meticulous planning has opened doors for Ben, allowing him to achieve remarkable feats. He has raced at the London Stadium for an Olympic test event, delivered speeches at 10 Downing Street to notable figures like Samantha Cameron and actor Eddie Redmayne, and earned a journalism degree from the University of Winchester.
With advances in treatment, Jessy Nelson's twins may grow up in a world where they can benefit from better medical interventions than those available during Ben's childhood. Inspiring success stories exist, such as those of Kim Tserkezie, Paralympian Sally Kidson, and YouTuber Shane Burcaw, who all thrive despite SMA.
Jessy’s openness about her daughters’ diagnosis is commendable, and it sheds light on the possibilities of leading fulfilling lives with SMA.
What do you think about the advancements in SMA treatment? Can we do more to support families facing this challenge? Share your thoughts below!
