A four-year-old from Inver Grove Heights is one of just a few hundred kids in the world with a rare genetic disorder. Mae Knopik has what is known as CTNNB1 Syndrome, a genetic disorder that is associated with developmental delays and cognitive impairments.

Mae is nonverbal and needs help walking.

“I want to hear her talk. I want to watch her walk unassisted. Will that happen? I don’t know. I’m hopeful, you have to stay hopeful,” said her dad Joe Knopik.

Since CTNNB1 Syndrome is so rare, it is still somewhat of a mystery to doctors and there is no real road map for Mae’s journey.

“It’s such a new diagnosis that we don’t actually know the natural history of what this disease looks like,” said Dr. Amy Authement with Gillette Children’s Specialty Healthcare. 

“What I always tell my families is that they are the experts in their child’s disease,” she said.

Which is one of the reasons the Knopiks are sharing their story. They are hoping more awareness will lead to more research, which could one day lead to a cure.

The Knopiks are hoping to take place in a genetic therapy clinical trial in Europe this summer. They will find out in early 2025 if Mae has been selected as a candidate. For more information on Mae’s journey, visit Mae’s Mission.