Parents of children with rare genetic condition fight to develop treatment options with new charity

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Parents of children with rare genetic condition fight to develop treatment options with new charity
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Tom and Rosie Dixon are two of only 70 people in the world diagnosed with a rare genetic mutation with effects similar to Parkinson's disease and for which no treatment exists. Their parents are fighting back.

July 17, 2023, 4:07 AMABCNews.com

The children are two of around only 70 people worldwide to have been diagnosed with the condition, according to the geneticist involved in making their diagnosis. After receiving the devastating diagnosis, they said doctors told them there was no treatment for it and that it would fall upon them to fund and find a cure.

"What I said to the lab in this instance was that I thought Tom and Rosie ... had a problem with their gait, with their balance, and they also had a tremor. So, the lab then went and looked at a panel of genes that were associated with poor balance … And so they were able to pull out the fact that this was the gene implicated in causing their problems," Elmslie added.

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