Minnesota family fighting for daughter with ultra-rare genetic mutation, others like her

MINNEAPOLIS — A Minnesota family is fighting for their daughter's future.

Mae Knopik, 4, has an ultra-rare genetic mutation that affects only about 430 people in the entire world.

When she was 1.5 years old, Mae was diagnosed with the neuro-developmental disorder, CTNNB1 Syndrome.

"She's non-verbal, she's unable to walk unassisted," said Emily Knopik, Mae's mother. "She definitely has that developmental delay, cognitive disability."

Emily and Joe Knopik say it's a random genetic mutation that wasn't passed down from them.

They've traveled the world to get Mae treatments and therapies. They also started a nonprofit, Mae's Mission.

They're raising money for a clinical trial of a promising gene therapy, and Mae's being considered as a participant.

"We're definitely excited," said Joe Knopik, Mae's father. "It could change our lives. There's also fear. It's a clinical trial, and it's your kid."

The Knopiks say the fundraising, as well as simply sharing information about the disorder, falls mostly on them and the other families experiencing what they are.

Incredibly, they say Minnesota is home to four other children with CTNNB1.

"A lot of the doctors are very interested in what we have to say," Emily Knopik said.

The Knopiks are hosting a charity golf tournament next month as a fundraiser. It could go a long way toward ensuring the clinical trial happens, and lending hope that Mae one day regains some of her function.

"I try not to go too far in the future because that's where I just get really emotional," Emily Knopik said. "I just want her to be more independent because we're not going to be here forever."

For more information on Mae's Mission and the golf tournament, click here.