The parents of two children afflicted with an untreatable genetic disorder have successfully raised £70,000 by embarking on a nine-hour walk through London.

In 2020, Mel Dixon, 46, and her husband Charlie, 47, residents of East Sheen in south-west London, received the devastating diagnosis that two of their three children—Tom, aged 15, and Rosie, aged 10—carry a mutation in the DHDDS gene.

Initially informed that there were only 59 confirmed cases globally—though this number has since increased to 80—they were heartbroken to discover that there was no available treatment or cure.

This neurodegenerative disorder leads to bouts of seizures, tremors, and developmental delays, and concerning the specific mutation affecting Tom and Rosie, Mel indicated that there are only seven identified cases around the world.

To raise funds for research into potential treatments and therapies, the couple hosted a charity event dubbed the “warrior walk” on June 8, which attracted 130 participants who traversed the Thames Path in London, covering distances of 40km, 20km, or 7km.

Reflecting on their experience, Mel described the nine-hour walk as both taxing and emotional, yet noted it was “incredible” to witness the community coming together for the cause.

Alongside their 13-year-old son, Harry, Mel and Charlie have initiated various fundraising events through their organization, Cure DHDDS, including a 50km walk in July 2023 and a planned 950-mile tandem bike ride in August 2024.

Mel expressed, “The contributions mean everything because without them, we can’t support research, and without research, there won’t be any treatments—it’s as straightforward as that.”

Tom and Rosie faced delays in achieving milestones like walking and speaking, and during their primary education, both were diagnosed with mild learning difficulties and dyspraxia, impacting their coordination.

They underwent whole genome sequencing, which revealed the alterations in their genetic structure, leading to the identification of the DHDDS gene mutation.

“They have a ‘spelling error’ [mutation] in a crucial segment of their DNA,” Mel explained.

When initially told of their children’s condition, the couple learned that it was both neurodevelopmental and neurodegenerative, and alarmingly rare, with no treatments available.

In the absence of intervention, symptoms such as psychosis, Parkinsonism, and cognitive deterioration could manifest in many individuals with DHDDS.

“The geneticists made it clear that it was our responsibility as parents to fund and drive the hunt for a cure,” Mel recounted.

“They both have so much happiness to offer the world and are worth every bit of this struggle.”

Mel and Charlie have observed improvements, believing that biotin, a vitamin, has helped lessen their children’s tremors, making tasks like drinking from a cup “much more feasible.”

Through their charity work, they are aiming for a fundraising target of £1.5 million to facilitate research into repurposing existing drugs and developing gene therapies.

“For us, the key element is maintaining hope,” Mel said.

“Lack of hope feels akin to giving up on our children, denying them the chance of a brighter future.

“Every leap forward in science has occurred because someone refused to accept the limitations that currently exist.”