A husband and wife team are aiming to raise £500,000 for charity to help awareness of the genetic disorder DHDDS.
Mel and Charles Dixon founded the charity CURE DHDDS, after they found out that two of their three children have the very rare DHDDS gene mutation, which causes a metabolic disorder.
The children, aged eight and 13, suffer with neurological symptoms such as learning difficulties, tremors, and myoclonus.
Other people also experience ataxia and seizures.
DHDDS mutation is a rare cause of refractory epilepsy and hyperkinetic movement disorder.
With only 70 cases recorded worldwide, there are currently no ways to treat DHDDS, as it has only recently been discovered.
Mel and Charles are taking steps to raise money to help find a treatment for this rare disease.
They have set up a GoFundMe page which has raised nearly £50,000 so far.
They have also done a sponsored 50km walk from Windsor to Mortlake which took place on 9 July.
Their first goal is to raise £500,000 to help fund research and expedite treatment, while their long-term goal is to look at therapies which they hope can cure DHDDS.
Funding is needed in order to research these mutations and get a good understanding of them.
Scientists hope that through new treatments and drug repurposing, they could find a way to replace the defective molecules with the right ones or avoid lipidic storage in neurons.
Featured image taken from Charles Dixon on YouTube
