A Hove family has launched a charity to find a cure for their son’s rare life-threatening illness which means he stops breathing when he’s asleep.
Casper Oakley-Roberts, now 14 months, was born with Congenital Central Hypoventilation Syndrome (CCHS), also known as Ondine’s curse.
His parents Steph and James registered Keep Me Breathing last month, and already have a packed schedule of fundraising events to help research cures.
Steph Roberts and James Oakley, who live with Casper and his three-year-old brother Max in Rowan Avenue, say that the technological capacity to dramatically improve the lives of people with CCHS is out there, but the funding is not.
Steph said: “Setting up Keep Me Breathing really wasn’t a choice.
“Neither myself or James have any experience in setting up or running a charity, but 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 said: “We want to raise funds to keep building the breathing pacemaker at the speed we’re doing it, because we have invested our life savings, but that will run out before we get to the stage where we’re eligible for the much bigger rounds of funding.
“That’s why we want the community on board, because at some point we’re going to run out.”
Casper and his parents spent the first 10 months of his life, exactly 273 days, in hospitals starting off at the neonatal Trevor Mann Unit at Royal Sussex County Hospital and the Royal Alexandra Children’s Hospital.
First diagnosed with meningitis, it wasn’t until Casper was four months old that the delayed results of his genetic sequencing test confirmed his diagnosis of CCHS.
He also developed a rare brain cancer, neuroblastoma and has received four rounds of chemotherapy due to the high-risk inoperable tumour.
Along with life-long mechanical ventilation to keep him breathing while asleep, and in some cases when awake, Casper needs constant care from trained nurses.
The cancer treatment has also made Casper immunocompromised, and he is still having three-monthly MRI scans to monitor his tumours.
Steph and James had to learn how to care for Casper’s specific medical needs, with neither of them having any previous medical background.
Steph said: “When he’s unwell it’s really intensive nursing, lots of nebulizers, oxygen, position rotation, changing masks, changing pressures, altering the ventilator – a really intense job.
“You have to make sure that you’ve got two ventilators whenever you leave the house in case one breaks, plus your SATS monitor and all the equipment that comes with it like spare tubings and spare masks.”
James said: “We travel really heavy just to go 15 minutes down the road.”
There are around 1,500 people worldwide with CCHS, and the parents say the oldest survivor they know of was 33 years old.
The charity’s medical advisory board, including a team at Cambridge University, are in the gateway stage of investigations.
A “world class” team of engineers are presenting options for the design of a pacemaker-type ventilator which will help CCHS patients breathe while asleep.
James says this mechanical ventilator for the diaphragm might one day be used to help other respiratory illnesses once developed and available.
As a best-case scenario the charity has about five years of the ventilator’s development left that they need to fund.
James said: “If people donate, every single penny of their donation goes directly towards the development of the breathing pacemaker.
“It doesn’t go on fundraising or staff costs or admin or the website – 100 percent goes directly on that.”
The first official Keep Me Breathing fundraiser is yoga event at The Grand Hotel in Brighton this Saturday.
The family also has a YouTube channel where medical professionals help them explain and raise awareness of CCHS.
Planned fundraising events throughout the year include a Music With Mike event in March, runners in the Brighton Marathon and 10K, as well as a 100 mile cycling challenge on the Tarka Trail in Devon.
To book a place on the yoga fundraiser or to find out more information on Casper and CCHS visit: www.keepmebreathing.com
