Parents Establish Charity : to Drive Treatment for Rare Genetic Condition

Parents Establish Charity

Parents Establish Charity : Tom and Rosie Dixon, two young children aged 13 and 8 respectively, have been diagnosed with a rare genetic condition that affects only 70 people worldwide. The Dixon family received the devastating news that their children carry a mutation in the DHDDS gene, resulting in neurological symptoms such as tremors, coordination issues, seizures, and learning difficulties. Faced with this life-altering diagnosis, the parents, Mel and Charlie Dixon, were informed that no treatment currently exists for this condition, leaving them with the daunting task of not only funding but also finding a cure.

The Search for Information

Upon learning about their children’s condition, the Dixons were shocked by the lack of available information. Charlie Dixon expressed their frustration, stating, “We were simply told they had a gene mutation and it was very rare. And we really had to just go out and find out about it for ourselves because there wasn’t any information at all.” Mel Dixon echoed this sentiment, highlighting the distress of being informed that the condition is both neurodevelopmental and potentially neurodegenerative.

Parents Establish Charity

The Diagnostic Process

Diagnosing this rare genetic condition was a complex and lengthy process. The Dixon children underwent whole genome sequencing, a technique that allowed the medical team to analyze their entire genetic code. Dr. Frances Elmslie, a consultant clinical geneticist involved in the diagnosis, explained that the laboratory focused on genes associated with balance and gait problems, as well as tremors, which led to the identification of the specific gene mutation.

However, the availability of this advanced diagnostic technology in healthcare systems has been relatively recent, suggesting that there may be more undiagnosed individuals with the condition. Dr. Elmslie emphasized the importance of expanding awareness and identifying others who might be affected.

Parents Establish Charity

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Founding Cure DHDDS

In response to their children’s diagnosis and the lack of treatment options, the Dixon family took matters into their own hands. They established Cure DHDDS, a charitable organization dedicated to supporting families affected by this rare genetic condition, driving research efforts, and funding potential treatments. By raising awareness and connecting with individuals who may share the same mutation, they hope to contribute to the discovery and testing of future treatments.

Charlie Dixon emphasized their commitment to finding as many people as possible who might be suffering from the same genetic mutation. By doing so, they aim to facilitate access to potential treatments and contribute to ongoing research efforts.

The Challenge of Fundraising Of Parents Establish Charity 

In addition to the arduous task of advocating for treatment development, the Dixon family faces the challenge of raising sufficient funds to support their cause. Securing financial resources is essential for driving research, clinical trials, and potential breakthroughs. The Dixons are determined to overcome this obstacle to provide hope for their children and others affected by the rare genetic condition.

Through their resilience, the Dixon family stands as a beacon of inspiration, actively working towards a brighter future for children like Tom and Rosie. Their relentless pursuit of a cure, combined with their commitment to supporting other families, highlights the power of compassion and determination in the face of adversity.

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