Mel Dixon is the Founder of the charity Cure DHDDS.
Her rare disease journey began when two of her three children were diagnosed with an ultra rare DHDDS gene variant in November 2022.
The DHDDS gene variant is ultra rare, newly discovered and appears to be neurodegenerative. This presented Mel’s family with numerous challenges.
Very few scientists had heard of the gene, and due to limited research, funding and the progressive nature of the condition, they needed to act quickly.
How did you overcome these challenges?
“We overcame these challenges by not giving up and juggling lots of balls at the same time! There is no greater motivator than fighting for your children’s future.
We’ve connected with every scientist who wrote a paper on DHDDS, fundraised relentlessly to raise money for research, organised conferences with the support of Costello Medical to bring our scientific community together, done media awareness campaigns and grown our patient community from just one other person to over 70 affected families.”
How has Beacon supported you?
“Beacon came highly recommended by a close friend who following their mentorship programme founded the charity Acrodysostosis Support and Research. So in January last year I signed up to the same program to give me the tools to set up our charity, Cure DHDDS.
Beacon gave me lots of practical advice on setting up the charity, but also introduced me to a rare community that is truly wonderful. They connected me with a fantastic mentor who supported and advised me throughout the steep learning curve of our charity’s first year.
Beacon helps make what seems impossible possible. I never would have thought I could form a charity with a scientific advisory board that helps to both support families and drive research, not least because I have no scientific experience and three children to look after. However, Beacon breaks tasks down into more manageable chunks to make it much more accessible to novices like me.”
A huge well done to Mel and the Cure DHDDS team, we’re excited to see what you achieve next!