Nine-year-old Digby is living with the rare genetic condition, Duchenne muscular dystrophy.
Digby’s journey with Duchenne began when he was aged two and his mum, Lisa, noticed he wasn’t reaching key developmental milestones: “He had a waddle when he walked, he couldn’t lift his neck properly and if he was lying down, he had to roll onto his tummy to sit up,” his mum, Lisa, recalls. “He was late to walk and was always falling, which we just thought was clumsiness.”
Digby’s older sister, Matisse, who was 11 at the time, had also been experiencing muscle pain and fatigue. She visited doctors many times over the years and after multiple tests to investigate her symptoms, a blood test revealed she carried the Duchenne gene. As a result, the entire family underwent genetic testing and it was discovered that Digby, the youngest of five, had the condition.
Children affected by this Duchenne muscular dystrophy suffer a relentless deterioration of their physical abilities. By 10 to 14 years of age, boys with Duchenne lose the ability to walk and require a wheelchair full time. Sadly, this disease is fatal and although some treatments are available to help slow its progression, they do not benefit all affected children
Little Digby is now nine years old but in his level of understanding – his behaviour and knowledge – his mum says he is “closer to four” – she describes him as “a little nine.”
The diagnosis was a devastating shock, made even more terrifying by Lisa’s knowledge of the condition. “I’d actually had a cousin on my father’s side who lived with Duchenne and tragically passed away at 21. When we got the diagnosis, I knew straight away what it was – it was absolutely terrifying.”
Schooling for Digby has been another challenge. Initially, the family hoped he could attend mainstream school and even delayed his start until he was five to give him a better chance of catching up. However, the onset of the COVID-19 pandemic disrupted his education, and it became clear that he was struggling to keep up. Eventually, they found the right fit at a special school which has been a blessing. “It’s been absolutely amazing there and he loves it,” Lisa says.
While Digby is aware that he is different from other children, he doesn’t yet fully understand Duchenne. He has, however, been a participant in a medical trial since his diagnosis, meaning he has always known that he needs regular treatment.
Lisa describes their fortune in securing a place in a clinical trial within two months of Digby’s diagnosis which involved receiving treatment at Great Ormond Street Hospital (GOSH). For three years, the family made weekly trips to GOSH, often staying overnight in London and when the pandemic hit, the trial adjusted to home dosing.
Though treatment is not life lengthening, it has significantly helped with mobility, making a meaningful difference in Digby’s life. “It’s a huge commitment – an infusion every week – but Digby is an absolute trooper,” Lisa says.
Whilst we take each day at a time, we're incredibly grateful that he's still got his mobility at this point and leads as normal a life as possible – but this can change overnight.
Action Medical Research and LifeArc are funding a research project which aims to transform the lives of many children and families affected by this devastating condition. The team, led by Professor Francesco Muntoni of UCL Great Ormond Street Institute of Child Health, are investigating whether combining gene-based therapies with existing medications could improve their effectiveness at targeting the root cause of the Duchenne. This laboratory work could help unleash the full potential of these cutting-edge treatments.
The hardest part, Lisa says, is knowing that time is precious. “The feeling that our son is on ‘borrowed time’ is heartbreaking. We know that everyday matters, but for so long, we haven’t been able to get out and make memories – first because of COVID and then because of my own health.” Now, they focus on making life as fun as possible for Digby, ensuring he experiences joy and laughter every day.
Lisa describes Digby as a ‘born entertainer’. “That’s how he gets by,” Lisa says with a smile. “He is a great showman and an enormous joy to be around.” Despite the challenges, Digby’s story is one of resilience and positivity. Through family support, groundbreaking medical trials and a determined spirit, Digby continues to light up the lives of those around him.