Mel & Charlie have three children, Tom, Harry and Rosie. When they were born, both Tom and Rosie didn’t learn to speak quite as quickly as their friends, and both were diagnosed with mild learning difficulties and Dyspraxia, which affects their co-ordination, when they were at primary school.
“I started to notice that they were a little shaky, but I thought it was part of the dyspraxia. However, when Tom was about seven, it was getting more noticeable so we got referred to a neurologist.”
The family met multiple neurologists but no cause for the tremors, motor skill and learning difficulties were discovered so they decided to go to a private genetic clinic which screened for a range of relatively common genetic conditions.
“The tests came back negative which was good, but on the other hand we still had no answers.”
It was then that Mel & Charlie came under the care of the Clinical Geneticist at St. George’s Hospital in London. Dr Elmslie suggested that they might consider getting Tom & Rosie’s genome sequenced by a process called Whole Genome Sequencing which can detect changes in your genetic make up. This is offered by the NHS Genomics Service.
Whole Genome Sequencing identified that both Tom & Rosie have the same ultra rare DHDDS gene mutation. These mutations cause symptoms such as learning difficulties, tremors, myoclonus and seizures all of which can range from mild to severe.
As the DHDDS gene was only decided to be pathogenic in 2021, very little is known about it and so treatment is largely symptomatic. However, this new knowledge has opened doors for the family and they now hope to find a treatment that can treat the cause of the disease rather than just managing the symptoms.
We have focused our energy on giving our children the brightest future possible
The Dixons, supported by family and friends, have set up the charity Cure DHDDS and are working hard to inspire and stimulate research amongst the scientific community to understand more about what this genetic change means and how it can be treated.“Right now, very little is known about DHDDS. There is no treatment, so our focus is on encouraging Doctors and researchers to unlock the mysteries around our condition. Symptoms have shown to progress in many patients, so we are fighting against time to give our children and all those suffering with these mutations the brightest future possible.”
The genetic testing and subsequent diagnosis, although extremely difficult, has given the family a focus. They have already created a Facebook group to connect with other people who have a DHDDS diagnosis. They are also working with a range of medical professionals from across the world with the aim of starting active research into the gene and screening for potential treatments.
To learn more about DHDDS and get involved, visit www.curedhdds.org