On June 8th, we’ll embark on a 40 km walk, wearing warrior face paint, from the Thames Barrier to Mortlake. Our mission is to raise funds and awareness for individuals battling ultra-rare DHDDS genetic variants.

Two years ago, Mel and Charlie received the heart breaking news that two of their three children, now aged 15 and 10, have an ultra-rare DHDDS genetic variant, which causes a metabolic disorder. This condition causes neurological symptoms such as tremors, myoclonus, learning difficulties, ataxia, and seizures. Unfortunately for many with the genetic variant it is progressive with worsening conditions as they get older.

At the time of diagnosis they were told that as DHDDS genetic variants are so rare (only 70 cases have been recorded in the world so far), and because they have only recently been discovered, there was little to no research into them, no plans to research DHDDS in the UK and no treatment in the pipeline for them.

Over the past two years, thanks to the generosity and support of so many, they have worked tirelessly to bring together a group of leading global scientists who are spearheading research into DHDDS- with the aim to deepen the understanding of these genetic variants and explore potential treatments, including drug repurposing and cutting-edge therapies like ASO and gene therapy.

Today there are 16 research projects underway, exploring disease mechanisms, drug repurposing, and ASO and gene therapies, all bringing us closer to finding a treatment, and one day, a cure for DHDDS.

Without fundraising events like this, families affected by DHDDS would be left with little to no hope for research or consequently treatments. Please join us in supporting this important cause. Every penny raised will go directly towards vital research that has the potential to make a life-changing difference—to all those affected by DHDDS genetic variants.