A father will cycle nearly 1,000 miles on a tandem bike wearing a lab coat to fund research into treatments for his two children who have an ultra-rare condition which affects just 70 people worldwide.
Mel Dixon, 45, and her husband Charlie, 47, who live in East Sheen, London, received the “devastating news” that two of their children – Tom, 15, and Rosie, nine – have a DHDDS gene mutation in November 2022.
Of Tom and Rosie’s particular DHDDS gene mutation, which can cause children to experience developmental delays and seizures, Mel said currently there are only seven cases confirmed worldwide.
The neurodegenerative condition can cause tremors, co-ordination issues and learning difficulties, and potentially lead to Parkinsonism, so the couple are racing against time to find treatments.
In July 2023, Mel and Charlie raised £15,000 with a 50km charity walk, but now the father-of-three has challenged himself to cycle from John O’Groats to Land’s End – around 950 miles – on August 30 to raise further funds for their charity Cure DHDDS, which aims to support patients and drive research.
Charlie told PA Real Life: “There is no funding for ultra-rare diseases, such as ours, and we couldn’t watch our children deteriorate without knowing we’d done everything in our power to help them.
“I’ve got friends, family, and colleagues taking part at different stages, so there will probably be 20 of us through the 10-day cycle.
“I will be the one constant on the tandem bike and it’s just a reflection of the challenge of what we’re facing and the teamwork that we have to put in to drive it forward.”
Mel added: “For us, the more we raise, the quicker we can research, the quicker we can get some treatment, and, throughout all of this, our big thing is time – you feel they’re ticking time bombs.
“The cycle will be the longest time Charlie has been away from us, so I think it will be incredibly emotional seeing him cross the finish line because the reason he’s doing it means so much.”
Mel and her husband Charlie, who works in fund management, have three children – Tom, 15, Harry, 12, and Rosie, nine.
When Tom and Rosie were diagnosed with a DHDDS gene mutation, the couple were told that there were only 59 confirmed cases worldwide – although there are 70 documented now – and there is no treatment available.
Their diagnosis came after the couple noticed the two children were “late with all the milestones”, such as walking and speaking.
Both were diagnosed with mild learning difficulties and dyspraxia – which affects movement and co-ordination – while at primary school, and Tom was later diagnosed with autism.
It was only after Tom and Rosie underwent whole genome sequencing testing at St George’s Hospital, which can detect changes in genetic make-up, that the DHDDS gene mutation was discovered in November 2022.
“We got the call from the geneticist, and she said they’ve both got identical variants. They’ve got one spelling mistake (a mutation) in a very important part of their DNA,” Mel said.
“We’ve all got spelling mistakes, but it’s where they are, and their mistake is in the wrong place.”
Mel described the diagnosis as “overwhelming” and “devastating” and said her only source of information was a medical paper, which contained details of 25 case studies with the DHDDS gene mutation.
Children with these mutations suffer with neurological symptoms such as tremors, sudden muscle movements, seizures, learning difficulties, and ataxia – a group of disorders that affect co-ordination, balance, and speech.
For Tom and Rosie, they use weighted cutlery to eat because their hands are not “steady enough” and thick pencils to aid with their grip, and they struggle with their balance and learn at a slower pace.
Without treatment, symptoms of psychosis, Parkinsonism, and cognitive decline can affect DHDDS patients – but, currently, the two children are seeing improvements by taking supplements, such as the vitamin biotin.
“It’s pretty all-encompassing, but I think we just try to make it as normal a situation as we can for the kids,” Charlie said.
“We’ll do bike rides, holidays, dog walks to try to make sure their condition doesn’t interfere with their enjoyment of childhood.”
With little to no support available, the family took matters into their own hands and founded the charity Cure DHDDS, which celebrated its one-year anniversary in April and raised £220,000 in its first year.
The charity has brought together scientists from around the world to accelerate understanding of this gene mutation, and Mel has presented at four conferences since March this year.
They will be holding another conference in October, where scientists will gather to discuss the DHDDS gene mutation, drug repurposing, and gene therapies.
“There is a complete lack of pathway and opportunity for ultra-rare diseases,” Mel said.
“As a family, you have to push and become mini professors in your child’s own condition to be able to access research.”
Since Mel said research is essential to be able to access grants and pay for clinical trials, which can cost between £2 million and £5 million, the couple are doing everything they can to raise money and awareness.
This, therefore, inspired Charlie to take on his “biggest personal challenge” to date with the tandem bike ride, with a fundraising target of £50,000.
Charlie and his team will start in John O’Groats on August 30 and cycle, against the wind, in lab coats through the Scottish Highlands, Lake District, Welsh Borders and Dartmoor, staying at bed & breakfasts along the way, before arriving in Land’s End on September 8 where he will be “in need of a beer”.
As part of his training, Charlie’s son Tom has been joining him on the tandem bike, cycling around Richmond Park – but he feels the biggest challenge he may face is mechanical issues.
Speaking about how much the donations mean to them, Mel said: “There is no therapy available, there is no pathway for DHDDS … but hitting the target would be huge.
“Every bit of research we do takes us a step closer to a treatment for the kids.
“If we weren’t able to do this, no-one would be doing it, so there would just be no hope of a better future for them.”
Charlie added: “What I’m doing (with the bike ride) is pretty straightforward relative to what Tom and Rosie have to face.
“It will be a massive challenge, but also, hopefully something which I can look back on and enjoy.”
To donate or find out more, visit Charlie’s fundraiser here: justgiving.com/page/curedhddstandemjogle.
To find out more about the charity, visit: curedhdds.org.