Meet Kid Captain Audrey Schneller
When Audrey was six weeks old her parents noticed her eyes beginning to “flutter,” and she wasn’t visually tracking things like babies her age should be doing.
At her next appointment, the doctor gave the couple good news: the retina in her “good eye” had flattened, so she would have better vision than anticipated.
“At the end of it, (the doctor) gave both of us a great big hug,” Amanda says. “She was thrilled. We were all thrilled.”
Audrey was fitted with glasses, had laser surgery and wore an eye patch as part of her medical intervention.
The results of genetic testing showed Audrey’s retinal issues and microcephaly were linked to a gene known as KIF11. The condition occurs when one of a person’s two copies of the KIF11 gene does not function normally.
“When Audrey was diagnosed, there were only 87 documented cases in the world,” Amanda says. “Hers was the 13th novel, meaning it's the only one like that. I can’t believe her incredible team was able to discover something so obscure and provide us with answers we so desperately needed.”
Now 7, the Waukee girl is in second grade and enjoys dance, singing and art.
“I can't thank them enough for everything they've done,” Amanda says. “They're truly experts in what they do and they care. It's incredible to have the amount of knowledge they have under one roof.”
Anjali was diagnosed with Down Syndrome before she was born, but doctors at a local hospital knew there was more.