One Mum’s story

Mel Dixon talks about her two children who both have a rare genetic condition, thanks to a change to the DHDDS gene.

Mel & Charlie have three children, Tom, Harry and Rosie.

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.

Listen to Mel talk about the diagnosis and how she is focusing her energy on giving her children the brightest future possible.

Listen to Mel here

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With any Whole Genome Sequencing (WGS) test ordered, a Record of Discussion (RoD) form will also need to be submitted. This document is to record the patient’s consent for genomic testing and their choice on taking part in research. Guidance on the patient choice conversation can be found here
This RoD form will be available for clinicians to download from this webpage. Once completed with the patient, it can be send to the lab with the corresponding test order form and sample.
Tests available to order will be listed in the National Genomic Test Directory. A test order form will soon be made available for clinicians on this webpage to download and complete. This form will include the address of the laboratory that the appropriate sample and completed form needs to be sent to.
Until the new Genomic Laboratory Service goes live, please continue to follow existing test order processes.
Later this year, the online test ordering tool for Whole Genome Sequencing will be integrated into the National Genomics Informatics System (NGIS) and clinicians will be able to search or filter to find a clinical indication, confirm eligibility criteria and start the test request process for their patient.