Kabuki Syndrome: Alaska family tries to raise awareness

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WASILLA, Alaska (KTUU) - Sixteen-year-old Rikki King of Wasilla will greet you with a big smile and a giggle as she plays with her dog, Chaos. But this teen has faced challenges throughout her entire life due to Kabuki Syndrome, a rare genetic disorder that many people have never heard of.

Family photo of Rene, Troy and Rikki King, of Wasilla. (Photo by KTUU Staff)

Rikki's parents had never heard of Kabuki Syndrome before their daughter was born. She spent two months in neonatal intensive care, where doctors could not determine the cause of her serious medical issues.

"When she came home, she had a heart monitor. She had a feeding pump – feeding tube," says Rene King, Rikki's mother. "She wasn't able to eat by mouth."

Rene says a genetic specialist from Seattle finally determined the root of her daughter's medical issues.

"I don't think she [genetic specialist] even saw Rikki for five minutes and she said, 'Rikki has Kabuki Syndrome,'" says Rene. "So my first thought was, 'What's that?'"

The National Institute of Health describes Kabuki Syndrome this way: "The name of this disorder comes from the resemblance of its characteristic facial appearance to stage makeup used in traditional Japanese Kabuki theater." The NIH also says the disorder includes developmental disability, muscle weakness, spinal curvature and seizures.

Initially, Rene and her husband, Troy King, had a difficult time finding information about the disorder.

"Back then, it was hard," says Troy. "We had internet obviously, but we didn't have the resources that we have now – to jump on it and instantaneously get a thousand results on what is this?"

The Kings figured that other families dealing with Kabuki Syndrome were facing the same information gap. So Rene started a website and non-profit organization called All Things Kabuki.

"We just want people to know, to get it [information]," Rene says. "If we can make life a little bit easier for other families, then we've accomplished out goal."

Rikki still faces new medical challenges. Her parents say she's had 33 surgical procedures thus far.

"Things can present as the children get older," says Rene. "She started with a congenital heart defect and feeding dysfunction, and conditions have been added. I think she has 58 diagnoses – I think – right now."

Through her challenges, Rikki has kept her smile big and maintains a positive outlook.

"I think the biggest blessing in Kabuki Syndrome is that 99 percent of our kids have a happy disposition," says Rene. "Which is amazing, because I think they have every right to have pity on themselves, you know? But they don't. They're happy. And my daughter, she loves everybody."

Oct. 23 is Kabuki Syndrome Awareness Day.

If you would like more information about the King family's non-profit, visit http://www.allthingskabuki.org/.

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