When James and his wife Steph welcomed their son Casper in December 2021, they had no idea how quickly their lives would be turned upside down. Five months and five hospitals later, Casper was diagnosed with Congenital Central Hypoventilation Syndrome (CCHS), a rare genetic condition that causes children to stop breathing when they fall asleep or become emotionally distressed.
The initial prognosis they were given was bleak. “The doctor said, ‘This is it. The rest of your life. There is no treatment,’” James recalls. “We were told Casper would be on a ventilator every night for the rest of his life… and that we would never fly, never drive alone with him, because it was too high risk.”
Faced with overwhelming news, James and Steph made a decision that would define the years to come. “Within about a week of getting the diagnosis, we knew we were going to do something about it,” James says. “It wasn’t acceptable to us that there was no treatment for a disease that affects babies and children – especially our own”
After a complicated process to decide Casper’s treatment, James became even more determined to advocate for his family. “We were told we were being selfish if we didn’t get Casper a tracheostomy. That’s how they did it at that hospital. But they definitely didn’t consider the home life that he’d have. For example, not being able to go swimming, not being able to play in a sandpit safely, not being able to have both of your parents go out on the same evening, because you must have two trained medical professionals with a tracheostomy,” James explains. “Both clinically and from a quality-of-life perspective, that was very, very wrong for our child, and it was considered purely because it’s what it says in the textbook at that hospital. That is something that makes me angry to this day, even though we ultimately chose not to do it.”
That determination became Keep Me Breathing, a med-tech charity founded not only to support families like theirs, but to actively develop a treatment for CCHS. What began as an instinctive response to a personal challenge soon became James’s full-time job. “At 32, I was running a successful business, with my first child and planning our second,” he reflects. “At 33, I was running a charity trying to save the life of our second child.”
Central to that journey has been the power of support networks – and finding the right people. James speaks with deep gratitude about geneticist Alex Deng, who became an early collaborator. “Without him, we wouldn’t be nearly as far along as we are now,” James says. “He gave us his time, his expertise. In our first conversation, he sat down with us and said, ‘You are the expert.’” That partnership helped the family to challenge entrenched medical assumptions and opened the door to innovation.
Together, they developed the concept of a breathing pacemaker: a mechanical device that stimulates the diaphragm when a breath is missed, much like how a cardiac pacemaker supports the heart. “We asked one question,” James explains. “How do we make the biggest difference to children’s lives in five years?” After mapping every option – including drug repurposing, drug development, and mechanical solutions – the answer became clear. “Something mechanical was the least risky, the least expensive, and the most likely to work. Very simply, the way it works is like a cardiac pacemaker. So, when your heart skips a beat, a pacemaker beats for it, and I know this is simplifying, but when you miss a breath, this breathes for you.”
For James, this innovation is not an abstract concept or a distant dream – it is urgent, personal and driven by lived experience. “We run Keep Me Breathing like a med-tech start-up, not a traditional charity,” he says. “We focus on doing, not just awareness.” By combining parental expertise with clinical insight and entrepreneurial drive, Keep Me Breathing has deliberately challenged the slow pace that often defines rare disease research. “We’ve avoided anything that slows down innovation. Until we had a product that worked, we’ve avoided universities, because they typically want to do a PhD study or do something over years, and I’m all about weeks and months.” The breathing pacemaker now represents more than a single device; it is a new model for how families, clinicians and innovators can work together to accelerate change. His advice? “If you find someone great, hang on to them for dear life. And harass them, politely!” It is this relentless, collaborative approach that now offers real hope – not just for Casper, but for individuals with CCHS around the world.
Today, James and his family defy many of the early warnings they were given. “We’ve smashed all the expectations of what doctors told us we’d be able to do,” James says. “We even went to Australia. We live our lives – we just take precautions.”
