Sussex couple launch charity to develop prototype pacer after son diagnosed with rare neurological condition

Steph Roberts and James Oakley from Hove learned their son Casper Oakley-Roberts had CCHS (Congenital Central Hypoventilation Syndrome) when he was four months old. He had been intubated at birth by doctors at Worthing Hospital but because the condition is so rare, the reason for his breathing difficulties took time to diagnose.

The couple discovered that the technology to dramatically improve Casper's life existed but the funding was not available to develop it, so they set about launching the charity Keep Me Breathing. Working with experts at The Cambridge University Consulting Network, they have already started building the prototype breathing pacemaker that could change Casper's life and help others with the same condition.

Steph said: "We quickly realised that it wasn't a case of the technology not exisiting, the funding wasn't there because it is so rare – there are only 2,500 cases in the world. Setting up Keep Me Breathing really wasn't a choice. When you learn that your son's treatment is insufficient and life limiting purely because of the lack of investment, we just had to do something.

"James is an incredibly driven person and he doesn't take no for an answer. We do have such a drive because he is our son and we want the best for him. Although we have never run a charity before, we have both always run our own businesses.

"The charity is building an advanced diaphragm pacer, like the cardiac pacer but it stimulates the phrenic nerve. It will be implanted so Casper can live like a normal person. We have started building the prototype and we are raising £250,000 to fund it, then we will be able to approach the NHS for grants."

The biggest fundraising event so far was a swimming challenge to complete 2,500 lengths at Arundel Lido on Sunday, April 16, which raised £7,000. More than £2,000 has also been raised ahead of a sponsored Perch to Perch Walk on Saturday, April 22. Maria Swift from Littlehampton, James' mum, will be walking from Perch on Lancing Beach to Perch on Worthing Pier with ten nursing colleagues from Worthing Hospital, friends and family.

Maria said: "I wanted to do a fundraising event so that children like my wonderful grandson Casper with CCHS can breathe on their own. Children with CCHS stop breathing the moment they fall asleep and there is no cure or treatment except artificial life support. Casper's parents James and Steph are changing that, working with Cambridge University and medical teams to build a breathing pacemaker. This will change the lives of thousands of children by breathing for them while asleep."

Visit www.gofundme.com/f/perch-to-perch-walk-for-keep-me-breathing to make a donation.

Casper was born at Worthing Hospital in December 2021 and is now 16 months old. He is a happy little boy who has just started nursery and has a three-year-old brother, Max.

Steph said: "He is the happiest little boy and it is because he is unaware. Our aim is to solve the problem before he is too aware of the fact his life is different. If we can change it before it impacts him, it would be incredible. With the pacer, to a large degree he would lead a very normal life.

"It is a neurological condition so when he falls asleep, his brain does not communicate that he needs to continue breathing. He uses a ventilator when he sleeps, which weighs 5kg. Wherever we go, we take two because he is totally dependent on it and as he is a baby, he likes to sleep whenever he fancies. At night, nurses and carers keep an eye on him while we sleep.

"We got the diagnosis when he was four months old, because it is such a rare condition. He was intubated shortly after he was born in Worthing Hospital. He was taken over to Brighton because he wasn't breathing and then to Evelina London Children's Hospital. Up to that point, he was being supported with his breathing but they didn't know the reason why until they did genetic sequencing in London. It is not inherited, it is a fault in the gene."

Steph, who was brought up in Shoreham, and James, who grew up in Durrington, hope the prototype will be finished by the end of the year. The goal is to implant within five years.

Steph said: "It is based on a pacer that was designed 50 years ago but needs tweaking for children and for the condition. For such a long time, they have really struggled to get funding. For the NHS, there is a huge incentive to use these because with the ventilators, the cost is huge. We have calculated they would break even in three years.

"We have set up Keep Me Breathing with 100 per cent of donations going directly towards discovering and developing treatments and cures for CCHS. And we really are making progress. We have spoken to the very best medics from around the world and formed a leading medical advisory board."

On the charity's advisory board is Prof Debra Weese-Mayer from Lurie Children’s Hospital in Chicago, who has patented a genetic test to diagnose CCHS and done a huge amount of research but her 'stumbling block' has been the funding.

Visit keepmebreathing.com for more information.