MINNEAPOLIS — A Minnesota family fights for their daughter’s future.
Mae Knopik, 4, has an extremely rare genetic mutation that affects only 430 people worldwide.
When Mae was 1.5 years old, she was diagnosed with the neurodevelopmental disorder CTNNB1 syndrome.
“She’s nonverbal, she can’t walk without help,” 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 they didn’t inherit from each other.
They have traveled the world to receive Mae’s treatments and therapies. They have also started a non-profit organization, Mae’s Mission.
They are raising money for a clinical trial of a promising gene therapy and Mae is being considered as a participant.
“We’re absolutely thrilled,” said Joe Knopik, Mae’s father. “It could change our lives. There’s also fear. It’s a clinical trial and it’s your child.”
The Knopiks say raising money, and simply sharing information about the condition, falls largely on their shoulders and the shoulders of other families going through the same thing.
Unbelievably, they say there are four other children in Minnesota with CTNNB1.
“A lot of doctors are very interested in what we have to say,” said Emily Knopik.
The Knopiks are hosting a charity golf tournament next month as a fundraiser. It could be a big step toward ensuring that the clinical trial continues and that Mae can one day regain some of her function.
“I try not to think too far into the future because then I 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 about Mae’s Mission and the golf tournament, click here.
David Schuman
