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South Florida symposium brings together families affected by rare condition

Only 30 people in entire world diagnosed with DHX30

FORT LAUDERDALE, Fla. – It's a rare genetic condition that only affects a handful of children across the world. And this week, many of them are gathering in South Florida for a very special symposium designed to bring those affected families together and help scientists find a way to treat it.

The condition called DHX30 is a rare genetic disorder that's been diagnosed in only 30 people in the entire world.

This week, about a third of them will be gathered at the Ocean Manor Resort in Fort Lauderdale for a first-of-its-kind conference that will hopefully bring researchers one step closer to finding a cure.

"Finding this group, it really opened up a world for us," Danielle Kaarlsen said.

Kaarlsen and her 3-year-old daughter, Meadow, live in Margate.

Doctors diagnosed Meadow with the disorder at just 9 months old.

"I was a little concerned when she wasn't meeting her milestones," Kaarlsen said. "So they started to do the genetic testing, and then we finally found her diagnosis."

DHX30 can severely impact a child's motor ability, leaving many unable to speak.

"When they learn to walk, their walk is unsteady. Most of them never learn to speak," Dr. Davor Lessel, of the Hamburg University Medical Center said. "It is not easy for their families to cope with that, especially since this is an ultra-rare disease."

Lessel helped discover the genetic mutation and is now leading the effort to find a cure.

"So far, I have only met two kids who bear the mutation. So for me, I see this as a huge opportunity for myself to learn more on the natural course of the disease," Lessel said.

Prior to the conference, many of these families had only been communicating through social media. So this is their first chance to meet with other families who are going through the same challenges.

"It's just so comforting to know that you've got all these other people that are just like you, knowing what you're going through," Kaarlsen said. 

Because the condition can only be diagnosed through genetic testing, which is not available in every country, Lessel estimates there could be hundreds of other children who are affected by it.

The two-day symposium will wrap up Tuesday, but organizers said they are already planning to hold another event sometime in the near future.


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