Singer Jessy Nelson revealed this week that her twin daughters have been diagnosed with Spinal Muscular Atrophy (SMA) type one, a muscle-weakening disease.
The former Little Mix star is now campaigning for all babies to be tested for SMA at birth, a crucial time when irreversible damage to the nervous system can be prevented.
A journalist living with SMA shares what life is like with the condition.
Life began with a slight challenge for my parents when they noticed, around six months old, that my development wasn’t keeping pace with other newborns.
While other babies my age were kicking and crawling, I was perfectly content observing the world from my buggy.
Concerned, my parents took me to their general practitioner. Initially, the doctor found nothing amiss. But after my parents requested tests, he sat me on the edge of his examination table and let go.
I immediately fell over, unable to use my arms to catch myself. The doctor caught me and simply said, “Oh.”
On October 15, 2001, a neurologist diagnosed me with SMA type two. My parents were told I might not live beyond two years old.
The neurologist scheduled a follow-up appointment for the New Year. When we returned in early 2002, he observed me giggling and watching the world go by, remarking, “He’s a survivor.”
SMA significantly impacts the respiratory system, making common winter colds and chest infections potentially life-threatening for those with the condition.
My family connected with a charity called the Jennifer Trust, now known as Spinal Muscular Atrophy UK, which provided invaluable support. I’ve also found camaraderie with others living with SMA, sharing experiences and knowing we’re not alone.
Despite initial prognoses, I’m now 25, working as a journalist and living independently with the assistance of personal care assistants.
I use an electric wheelchair, which is a win when commuting on the Tube – no need to stand!
I require a ventilator overnight, as my breathing is shallower then. It might sound daunting, but it’s completely normal for me.
I take a daily medication called Risdiplam, which helps stabilize my condition. It differs from Zolgensma, a gene therapy drug approved by the NHS in 2021 for babies – that treatment is most effective when administered early in life due to its potential impact on the kidneys.
Four things to know about Spinal Muscular Atrophy (SMA)
- What is it? The NHS describes SMA as “a rare genetic condition that can cause muscle weakness” which worsens over time, but treatments are available to manage symptoms. The NHS lists five types – with type two often allowing survival into adulthood.
- How many people have it? NICE estimates SMA affects roughly one in 14,000 births globally. Approximately 47 babies were born with SMA in the UK in 2023, with 60% having type one. Between 683 and 1,366 people currently live with SMA in the UK, according to NICE.
- What are the treatments? Gene therapy for babies, using a drug called Zolgensma, aims to restore the missing survival motor neuron (SMN) protein. It isn’t a cure, but can reduce muscle damage when given early.
- What about testing? Scotland will begin routine SMA screening for babies this spring, and the National Screening Committee is reviewing whether to expand this to all babies in the UK via a heel prick blood test.
In 2003, my sister Emily was born, three years after me, and my parents faced the challenge of caring for us both. She doesn’t have SMA, but may be a carrier of the condition.
Emily has always treated me the same, regardless of my SMA. Though an operation to correct scoliosis halted my growth, she does enjoy being taller than me.
My father, a project manager, applied that skillset to my care, coordinating services like wheelchair provision, physiotherapy, neurology, and children’s services in quarterly meetings to ensure a unified approach.
I attended a mainstream primary school with a teaching assistant who provided support throughout the day, not with academics, but with accessing the curriculum. I took the same tests, received the same discipline, and socialized with my peers.
This careful planning has continued throughout my life, enabling me to achieve remarkable things.
I’ve raced at the London Stadium during a test event for the 2012 Olympics, spoken at 10 Downing Street to Samantha Cameron and Eddie Redmayne, and earned a journalism degree from the University of Winchester.
Nelson’s twins may well thrive even more, as treatments for babies have advanced. Many individuals with SMA have found success, including Kim Tserkezie, who played Penny Pocket in Balamory, Paralympian Sally Kidson, and US Youtuber Shane Burcaw.
Nelson’s openness is encouraging, and as my experience demonstrates, a fulfilling life with SMA is entirely possible.
