FLG: Tell us a bit about yourself, what it is you do, and the journey that’s led you to where you are now.
James: I’m the CEO and Chair of Trustees at Keep Me Breathing. We’re a med‑tech–based charity that supports children with Congenital Central Hypoventilation Syndrome, or CCHS for short. CCHS means that when children fall asleep – or sometimes when they become emotionally upset – they stop breathing. That’s essentially the consistent problem. There are various other symptoms, but that is the hallmark of the disease.
FLG: And what was it that led you to the decision to found Keep Me Breathing and go down this route?
James: Our son Casper was born on the 2nd of December 2021. We received his diagnosis five months later, five different hospitals later. The diagnosis was delivered by a doctor, not a geneticist, who said, “This is it for the rest of your life. There is no treatment. Your child will go home and sleep on a ventilator or artificial life support every night for the rest of their life, whether they are two, twenty, or eighty years old.” We were also told there were extreme risks: that we would never be able to fly with our child, and that we would never be able to drive alone with our child because it was considered too high‑risk. Luckily, we’ve since gone on to disprove most of those statements. However, the issue remains that Casper stops breathing the moment he falls asleep.
Within about a week of receiving the diagnosis, my wife Steph and I knew we were going to do something about it. It wasn’t acceptable to us that there was no treatment for a disease that affects babies and children, especially our own. We knew very quickly, and it was literally just about picking a name. And Keep Me Breathing felt quite relevant.
FLG: It’s incredible that, during such a difficult time, you chose to take action like that. I imagine those first few days and weeks after diagnosis must have been incredibly challenging. What were some of the biggest challenges you faced at the start?
James: Honestly, when I say this, I don’t really remember. We received the CCHS diagnosis on the same day as a cancer diagnosis for Casper, so he was dealing with both at the same time. I don’t know if it was because of that, or because we decided so quickly what we were going to do, but I don’t remember us ever really wallowing in self‑pity or worry. We had other very immediate things to deal with. And once we decided to start the charity, that took up a huge amount of our focus. For the first year, that’s essentially all we did, alongside caring for our children. Now it’s very much my full‑time role.
It’s also really important to mention that we asked to meet a geneticist – not to ask what the disease was, because we already knew that, but more to ask how you cure a disease that has no cure. We were incredibly lucky to meet a brilliant geneticist called Dr Alex Deng, who we’re still close friends with today. From the very beginning, he understood our motivations and supported us in everything we did. For the first six months of the charity, we encountered some doctors who were frankly awful, and Alex was the best we could have asked for. It’s thanks to him that the charity got such a good start. Without him, we wouldn’t be nearly as far along as we are now
FLG: It’s really good to hear that there have been people like that supporting you. How has all of this impacted your daily lives? Not just your son’s diagnosis, but also running the charity?
James: I often say that at 32, I was running a successful business, had one child, and was planning our second. At 33, I was running a charity trying to save the life of our second child. It was a transition, but an easy decision: we knew what was most important. I scaled my business down and moved into Keep Me Breathing full‑time over about six months. There were of course financial penalties,, but we were fortunate enough to be able to absorb them. And I still run my business one day a week. It’s also changed our ambitions. Previously, goals were more financial; now everything is focused on developing a treatment.
In terms of day‑to‑day life, we were very determined, because we never wanted it to affect our first son, Max. But life did change a lot at the start. Of course, you’re naturally nervous when you’re carrying life‑support equipment just to go to the park. But it has become normal. We know what equipment we need, we have it on us, and it doesn’t affect us.
We’ve also smashed all the expectations of what the doctors told us we’d be able to do. We’ve even travelled to Australia on holiday, to the US for conferences, and done things we were originally told would never be possible. It’s lovely. We live our lives. Aside from taking extra precautions, we don’t let the condition change our lives anymore.
FLG: What do you think enabled you to break those barriers and do things like travel to Australia and the US?
James: At first, you naturally believe the expectations you’re given. But over time, you realise your child is more capable than initially assumed, both clinically and physically. A big part of it is simply getting used to it. Steph and I are both very determined, and we wanted Max and Casper to have the same life they would have had without illness.
What you’ll find is many people with this diagnosis, they’ll often fly once or not at all, and after the first time, never again. Because flying is incredibly stressful at first. There are always things that come up, problems with batteries for example, but after four or five flights, we learned how to manage it. You learn the answers to the common questions, and even though there are still things that come up, you get better at it.
Sometimes it really is about forcing yourself to do something horrible a few times until it becomes normal. There’s a phrase about “eating the frog” – it’s the worst thing you’ll do, and it feels like eating a giant frog, but then everything else feels easier.
I’m also aware that CCHS has different levels of severity, although it is severe for everybody. And so I don’t tell these stories to gloat. It’s more to say, don’t just believe that it’s impossible. Because at one point, we believed it was impossible, and look where we are three, four years later. You’re going to feel awful when you get that diagnosis, you’ll think life is over, like we did. But it’s not. You can eat that frog, you can do it.
FLG: What do you wish clinicians, researchers, or even the general public understood better about living with a rare condition?
James: Specialists are usually very good, and I want to be clear about that. The issue is with doctors who give a diagnosis without understanding the impact it has at home.
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 didn’t look at clinical research from other hospitals, like Great Ormond Street, where we eventually moved to, where they support mask ventilation. And evidence from countries like Japan, who have seen equal if not better outcomes from mask ventilation. And 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.
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.
FLG: You’ve talked about developing a breathing pacemaker. How did that idea come about?
James: It came from about six months of research between myself, Steph, and Dr Alex Deng. We almost had a crime map, where you have the things on the wall like spider webs. We looked at everything, what was available, what was going on in other diseases, and we asked one question: how do we make the biggest difference to children’s lives in five years? Because that meant we could make a difference to Casper’s life. We considered mechanical solutions, drug repurposing, drug development. Ultimately, 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. We’ve just finished stage one of three of the build, the external part (VENTO).
And also we’re not just looking at CCHS but also COPD and at-home wearing to diagnose if you need a CPAP mask. It comes back round to my original career, we want this to become a commercial device, used both clinically and for wellness, and that will fund everything. Then I don’t have to keep running marathons!
But we wouldn’t have been able to make any of these decisions in an informed way without Alex’s support.
FLG: What’s been most surprising about collaborating across different fields?
James: If I look back now, I was extremely shocked at how much time Alex gave us. He gave us his time, and he gave us his expertise. I was shocked in a good way! Because I would never have expected him to do as much as he’s done and still continue to do to this day. So, that’s surprising in a sense.
I’ve also learned that the charitable world can be incredibly slow compared to the commercial world, which is my background. We run Keep Me Breathing like a med‑tech startup. We focus on ROI, and we don’t just focus on awareness – we do the ‘doing’.
I didn’t really have any surprises about working with the clinicians, with the exception maybe of the difference in care quality based on expertise. We’ve dealt with clinicians who were very open about the fact they weren’t experts, or maybe they were respiratory experts but not for CCHS specifically, and that was a very bad experience for us. But being at an expert hospital with an expert clinician, it’s an extremely positive experience.
In rare diseases, having a true condition‑specific expert makes an enormous difference. And it also surprised me that in the UK, there is only one paediatric CCHS specialist and one adult specialist. That leaves us so thin on the ground should they retire.
FLG: How do you ensure that expertise isn’t lost when specialists retire?
James: That’s something we actively worry about. About a year and a half ago I wrote an email saying ‘how do we make sure your legacy is continued?’ We’re exploring funding training positions so that knowledge is passed on. It’s unbelievable that we have to do that, that charities have to step in to ensure continuity of care, but that’s the reality.
FLG: What makes a successful collaboration between families and researchers?
James: With clinicians: being really strong, pushing back. Ask questions. Don’t accept the first answer if it doesn’t feel right. Be polite, but be relentless. It isn’t how to be liked, but it’s for your child. Threaten to do whatever it takes for your child to get what they need.
With researchers: politely harass them, but with credibility and integrity. Integrity matters. Once you have that, doors open. For example, I’ve communicated with a top CCHS researcher by politely harassing her after being introduced by Alex, so that lent us credibility. She’s now joined the advisory board. And then in turn we were able to approach the only other CCHS network, where they’re looking to develop treatments, and we had a leading researcher on our team.
I understand people are busy, and they won’t necessarily listen to you unless you have something behind you. So, I’ve always said polite harassment, lots of it, but with credibility. That’s how we’ve always tried to do it.
Just yesterday we were doing extreme environment testing in a research collaboration with Portsmouth University. We’re testing the external part of the device, which monitors CO2, and seeing how it responds in heat chambers and humidity and low oxygen levels. Having a university backing that gives us credibility.
FLG: It sounds like you have a lot of people behind you who are really dedicated to this.
James: Yes. Firstly, 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. Now we have a device that works, we can do things very quickly. The other thing is that once you find a good clinician, hang onto them for dear life.
FLG: How has this experience changed your definition of the word ‘expert’?
James: In our first conversation, Alex sat down with us and said, ‘You are the experts in this condition. You will be the expert more than any doctor in this hospital within the next couple of months’. And he was right. You can very quickly become an expert, especially in rare disease, because you know more than 90% of people very quickly. But it is nuanced, because that expertise changes. You want an expert clinician, expert geneticists, experts in different areas. So, if I’m looking from a patient perspective, I would say patients and parents equally are true experts in the condition, and then you get the odd person who dedicates themselves to it, too. And again, once you find them, hang onto them. But I don’t know if I have good definition of what ‘expert’ means.
FLG: What advice would you give to innovators who want to meaningfully involve patients and families in their work?
James: My honest answer is that in rare disease, 10% of families do 99% of the work. When you find those families, hold onto them. They are the driving force behind everything. They will raise 99% of your money, give you 99% of your contacts.
I understand how overwhelming this can all be. What typically happens is when you get a diagnosis, one parent stops working, and I understand that’s unbelievably hard. But it also makes me angry that no one has done anything before [for CCHS], and that even now, as I say, it’s 10% of people doing 99% of the work. I’m very passionate about this. We do have some families we work with and they do so much, they’ve raised 10s of 1000s of pounds. They’ve run events. But it’s hard to get people involved, so my advice is hang onto them when you do. If you find someone and they immediately say ‘yes, I’m interested,’ then you know they’re brilliant.
FLG: It sounds like support is a running theme throughout this journey, one of the most important things, be that from clinicians, researchers or other families.
James: Yeah, and support is rare. I’ve met probably 100 clinicians, and I can pick out 4 or 5 who are truly fantastic. Same with families. Many have very good reasons and are unable to contribute, but the ones who do, they really contribute.
FLG: Is there anything else you’d like to add?
James: We’re a med‑tech‑run charity, and that’s given us real advantages. We operate commercially, even though we’re charitable, and that’s helped us move faster. And VENTO is now an investable opportunity. If anyone wants to reach out or connect, I’m always happy to talk. We’ve relied on others, and I’m keen to pay that forward.
