Tandem challenge to fundraise for ultra-rare disease affecting 70 worldwide, including two siblings
Two friends are set to take on a tandem challenge from John O’Groats to Lands End.
Kenny Baillie and Charlie Dixon will set out on the race tomorrow (August 30) and continue to Carrbridge, finishing on Saturday. Charlie will then carry on to Lands End.
The duo are raising funds for Cure DHDDS. Dehydrodolichol diphosphate synthase (DHDDS) is a rare genetic condition, with only 70 people in the world being diagnosed with it.
Charlie and his wife Mel from Sheen in London have three kids – Tom, Harry and Rosie. Tom and Rosie have both been diagnosed with DHDDS.
Charlie and Mel set up Cure DHDDS to try and fund research into this very much unknown disease.
Mel Dixon said: “We set up the charity after finding out that two of our children carry an ultra-rare and newly discovered DHDDS mutation that causes an often-progressive neurological condition.
“Key symptoms include learning difficulties, tremors, seizures and balance and coordination difficulties, and without therapeutic intervention can get worse over time making the simplest of tasks a challenge.
“There is no clinical pathway for DHDDS mutations, and as they are so rare and no government funding is available.
“Before Cure DHDDS was formed only one research project was happening into this gene mutation which was paused for scientists to focus on more common conditions such as Parkinsons.
“We are working hard to change our research landscape and bring individuals suffering with these mutations hope of a therapy that can bring them a brighter future.”
Since founding Cure DHDDS they have instigated and co-funded 12 projects across the globe with researchers from GOSH, UCL, Cardiff University, Mount Sinai Hospital in New York, Perlara in the USA, Saint Justine University Hospital Canada, Heidelberg University and Sapienza University in Italy.
Mel added: “We are making great progress in understanding this disease but this comes at a huge financial cost and we cannot do it alone.
“There is no-one more driven than parents fighting for their kids, and our realistic hope for our charity is that our research can translate into therapies that will improve the lives of this unserved patient community who have huge unmet medical need.
“Any support in helping our rare warriors in this battle will bring us closer to our vision of a treatment pathway and cure.”
