FOX31 Denver

Denver-area girl one of just 64 in world with rare genetic mutation

Carole Bakhos and her husband, Sid Inamdar, pose with their five year old daughter, Yara. She has Jordan's Syndrome, a rare genetic disorder that causes developmental delays.

DENVER — Some of the best genetic scientists in the world are in Colorado this weekend to talk about their mission to find a cure for a rare genetic disorder.

The disorder is technically called PPP2R5D and is better known as Jordan’s Syndrome. It was named after Jordan Lang, the first child diagnosed with the gene mutation in the United States.

Jordan’s Syndrome causes children to have developmental delays.

Now, 64 children worldwide have been diagnosed with the Jordan’s Syndrome, including Yara, a little girl from the Denver area.

“She’s a silly 5-year-old girl, loves dancing, loves reading [and] science, actually,” said Yara’s father, Sid Inamdar. “She’s obviously had to work very hard to do everything that any other 5-year-old can do.”

Inamdar learned Yara had Jordan’s Syndrome after doctors mapped the girl’s entire genome. It’s an expensive process that’s not covered by all insurance companies.

“We reached a point where we knew we needed to tell our story,” said Yara’s mother, Carole Bakhos. “This can’t be this personal thing that Yara is dealing with. It’s much bigger than that.”

Bakhos and her husband Inamdar are now a part of Jordan’s Guardian Angels, a group working to find a cure for the disorder.

They recently received a $12 million grant from the state of California because the genetic mutation in Jordan’s Syndrome is connected to everything from autism to Alzheimer’s disease and cancer.

“What they’ve accomplished in one year, 10 years ago, would’ve taken 10 years. It’s just happening at what you call light speed, from a science standpoint,” said Joe Lang, Jordan’s father and founder of Jordan’s Guardian Angels.

Doctors now think as many as one in 20,000 people has Jordan’s Syndrome.

Find out more about Jordan’s Syndrome and the research into it by watching this video.