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Families of children with one of the rarest genetic disorders in the world meet in Colorado Springs

DHX30 Syndrome affects less than 100 children across the globe and can affect their ability to develop
Posted at 6:25 PM, May 02, 2024
and last updated 2024-05-02 20:25:05-04

COLORADO SPRINGS — DHX30 Syndrome is one of the rarest genetic disorders in the world: it's a genetic mutation that can affect a child's ability to walk, talk, and develop. There are currently less than 100 children who have been diagnosed with DHX30 on the planet, and today more than 20 of them met in Colorado Springs.

"For all intents and purposes, at home in your day-to-day, it's a lot like having an 8 and 6-year-old infant," said John Ragsdale.

Ragsdale and his family flew in from the Kansas area for the DHX30 United conference. They say their two boys, William and Wyatt, are almost literally
one-of-a-kind brothers: they're two of the only sibling pairs who both have DHX30.

"It's not without its challenges but it's absolutely been super rewarding," Ragsdale told me.

DHX30 was first discovered in 2015 by a team of researchers in Germany. Professor Davor Lessel has since devoted his career to studying the disorder, and serves as the head of the Institute of Human Genetics at Salzburg University Hospital. He says being able to research families involved with DHX30 United could lead to some positive therapeutic discoveries.

"So this is not a cure. We are far from a cure, but it looks like we might be on the path to have a treatment which may ameliorate at least some of the symptoms we have observed in these kids," he told me.

Parents like Sonal and Coral Parmer. say these cases vary. Their son Ezra has unique genes: he's able to walk but unable to speak. Still, they say, DHX30United has accepted them all the same.

"There are these two groups: severe and mild. And they're both represented in these mutations. So you really feel okay being part of this group. We're still part of this group even though it's a very different experience for us," said Sonal.

"We hope that stories like this can make people aware so they can also find resources and access," continued Coral.

The group is always looking for other parents and families who have children with DHX30. You can find their information here.

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