In 2022, our friends Mel and Charlie found out that two of their three children, now aged 16 and 11, have a DHDDS gene mutation which causes a metabolic disorder. Children with these mutations suffer with neurological symptoms such as tremors, myoclonus, learning difficulties, ataxia and seizures. Unfortunately for many with the genetic mutation it seems to be progressive with worsening conditions as they get older.

Through very kind donations to date Cure DHDDS have been able to coordinate a number of ground breaking research projects around the world to investigate the cause and potential treatments for this ultra rare disease (details of which are on our website www.curedhdds.com)

As with many ultra rare diseases a lot of the onus to fund these projects sits with the families and we are so grateful for any support that you can give to further our research.

In June a group of 30 of us will be taking on the infamous 3 Peaks Challenge climbing the three tallest peaks in Scotland (Ben Nevis), England (Scafell Pike) and Wales (Snowdon). The challenge involves a total ascent of approximately 3,000 to 3,064 meters (9,800 to 10,052 feet) and about 23–26 miles of hiking across Ben Nevis, Scafell Pike, and Snowdon within 24 hours.

Any donations that you make to the charity will be very gratefully received and enable us in the next 12 months to fund a research project at UCL focused on establishing a biomarker for the disease - key to helping any future treatments

We are all incredibly grateful for any level of support.