Medical conference held in Colorado Springs to discuss rare DHX30 gene mutation
COLORADO SPRINGS, Colo. (KRDO)-- Parents from all over the world gathered in Colorado Springs this week to learn about a rare neurological condition affecting their children. It's called DHX30 and there are only 106 cases of it recorded across the world.
Each family KRDO spoke to mentioned their main goal is to find out more information about this rare gene and ideally find a treatment for their kids. Ysabella Mejia is one of the 106 people in the world who have been diagnosed with DHX30. She's now an adult, but when she was first diagnosed she was one of the first 12 kids ever diagnosed with the condition.
"They said, this is the numbers and letters that describe your child's condition. And then they sat at home and they didn't have any answers for even what that meant," said Heidi Lacy, Ysabella's mom and Founder of the non-profit DHX30 United.
DHX30's symptoms are similar to autism as the gene can present itself differently within each child.
"So we started a Facebook group, and we started to get more and more families to be able to connect," said Lacy. Eventually, this group turned into the non-profit DHX30 United.
"Our goal is one, to like spread awareness of this. She doesn't really fit in the categories that anybody else fits in. So being able to get her proper services, just like trying to make her have like an easy life as much as we can," said Maria Weathers, whose daughter has been diagnosed with DHX30.
One family even traveled from Sonora, Mexico to attend the conference with their 13-year-old son Mateo.
"It's wonderful to be here and be able to think our kids are all the same and no one is judging us, and I feel hopeful to know there are advances and know that newer generations won't come in and be alone. Like knowing there will be more research done gives me hope that they will be able to help him," said Ana Karina Aguirre, Mateo's mom.
The rare gene is often misdiagnosed as cerebral palsy or autism and it can only be diagnosed through genetic testing.
"So our ultimate goal is to identify a therapeutic target, which we can use to at least ameliorate some of the symptoms in these children. In other terms, it would be fantastic if these children would learn to walk and would learn to speak," said Davor Lessel, Director of the Institute of Human Genetics.
