WHEN Mel and Charlie Dixon were told two of their three children had a life-altering, ultra-rare genetic condition, there was still worse news to come.
Mel and her husband Charlie, who works in fund management, have three children – Tom, 14, Harry, 12, and Rosie, nine.Doctors get stomach-churning shock after bacon triggers man's migraines It was only after Tom and Rosie underwent whole genome sequencing testing at St George’s Hospital in London, which can detect changes in your genetic makeup, that the DHDDS gene mutation was discovered."They’ve got one spelling mistake in a very important part of their DNA.Mel described the diagnosis as “overwhelming” and “devastating”.
Day to day, the two children use weighted cutlery to eat because their hands are not “steady enough”. "He always looks out for Rosie and makes sure she’s okay, and Harry is very protective of them both."Given there is currently no treatment, Mel and Charlie are fearful of the future as they do not know how quickly their symptoms could progress.
Source: Healthcare Press (healthcarepress.net)
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