Link to video:  Children’s genetic disorder baffles doctors

Written by Heather Simonsen

PARK CITY — A Park City mother and father are fighting for their children’s lives. Their three children have a rare genetic disorder that have doctors baffled.

It’s an unknown autonomic dysfunction, a gene mutation that doesn’t have a name, and doctors don’t know how to treat.

The children — Ava, Oscar and Lucy Zanik — suffer from headaches, stomach aches, and pain, but their parents aren’t giving up. Gina and Justin Zanik say they’ll do whatever it takes to make their children well.

They say Ava has become a pro at shots, surgeries and other painful treatments. She loves to draw horses, play the guitar and sing.

Her ordeal began when she was 3 years old with a bump on the head.

“She hit her head right here and started having these horrific headaches,” Gina said. “We took her to the ER, and they scanned her once, but they didn’t scan her again. She screamed like a wild animal for six weeks.”

Doctors discovered a large arachnoid cyst. A cranial surgery followed and during which doctors placed a shunt.

Her condition is so rare, Gina says, that getting the right care quickly is frustrating.

“The pain she suffered was so horrible, and being that mom that everyone ignored just because I was so scared and worried, it was like, ‘Tylenol. She’s fine.’ And it’s like, ‘listen to the mom,'” she said.

“We used to have a pet dog, his name was Louie,” Ava said. “He was so cute. When we got him, he came to cuddle with me because he knew I was sick.”

Ava’s siblings have the same disorder. Their father, Justin, is the assistant manager for the Utah Jazz.

“The specialists and expertise are here in Utah,” he said. “It’s really about creating the infrastructure where these caring doctors can create a communications system between them.”

For now, the Zaniks want people to hear their story so families with children like theirs can unite, help their children heal and reach their dreams.

“Going to California and working with the dolphins, that would be fun, (and) working on the beach every day,” Ava said.

Ava can’t play at recess or participate in PE. The Zaniks are working to change that. They’re part of an upcoming conference this week about undiagnosed genetic dysfunction.