On June 8th, Sarah will be walking 20 km with Walter and Molly, while Jeff will walk 40km in support of those battling ultra-rare DHDDS genetic variants.

Two years ago, our great friends Mel and Charlie received the heart breaking news that two of their three children, now aged 15 and 10, have this condition, which is typically progressive. It causes neurological symptoms such as tremors, myoclonus, learning difficulties, ataxia, and seizures.

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

Over the past two years, thanks to the generosity and support of so many, Mel and Charlie have worked tirelessly to bring together a group of leading scientists who are spearheading research into DHDDS. Their goal is to deepen the understanding of these genetic variants and explore potential treatments.

Today, 16 research projects are 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 genetic variants 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 life-changing differences to those affected.

Cure DHDDS Fundraising Full Video

Thanks for taking the time to visit my JustGiving page.