Devastating Diagnosis: Children with rare mutation meet for first time in Fort Lauderdale

(WSVN) - It’s a genetic disorder so rare that only a handful of children in the entire world are affected. Finding other parents for help and support with this “Devastating Diagnosis” can be a challenge, but as 7’s Kevin Ozebek tells us, that’s just what happened right here in South Florida.

They are beautiful children, but behind the smiles is heartache.

Dr. Davor Lessel, discovered DHX30: “They have attention deficits. They have aggressive behaviors.”

These children suffer from a genetic mutation called DHX30. It’s a condition so rare that the families gathered in this room represent almost half of the 29 patients diagnosed in the world.

Dr. Davor Lessel: “It’s devastating for me having to tell these parents that they will not have an easy life.”

The mutation was discovered just three years ago by Dr. Davor Lessel, a clinical geneticist in Hamburg, Germany. He says the mutation makes it extremely difficult for children to walk and talk.

Dr. Davor Lessel: “These kids cannot speak. They can speak hardly one or two words. They know what they want, but they cannot express it.”

The discovery is so new that families have been communicating with Dr. Lessel and each other through a small Facebook support group.

Heidi Lacey: “Who all does horseback riding?”

This recent meeting in Fort Lauderdale marks the first time they were able to meet face to face. An important step for parents who feel isolated.

Danielle Kaarlsen, daughter has DHX30: “This whole thing meant the world to me.”

Three-year-old Meadow is from Fort Lauderdale. She was diagnosed with DHX30 two years ago. Mom Danielle says being able to talk to other parents with the same challenges is a relief.

Danielle Kaarlsen: “I had been trying to reach out with different groups and such. It was just so heartwarming to see other people just like her.”

For this first important meeting, families traveled from Mexico, Canada and all over the U.S.

Adriana’s mom: “Do you want to go to the beach?”

Three-year-old Adriana is from British Columbia, and 6-year-old Emily is from Alabama.

Then, there’s 17-year-old Bella. She lives in Colorado and is the oldest here.

Heidi Lacey: “She likes coffee.”

Bella had been misdiagnosed until Dr. Lessel discovered the DHX30 mutation.

Heidi Lacey, Bella’s mom: “And then all of a sudden, you know exactly what it is that is impacting your child.”

When a disorder is this rare, getting funding for research can be a challenge.

Dr. Davor Lessel: “Because of the fact that it’s so rare, the pharma companies, they do not have an interest to invest the money to study this.”

But Dr. Lessel says his team is determined, and so are these parents.

Danielle Kaarlsen: “We are all very invested in our children and in making as much progress with this condition as we possibly can.”

With mutual support, these families hope to move forward by learning more about the disorder and also finding ways to help their children live their best lives.

NIH Information on DHX30

Facebook support group

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