INVER GROVE HEIGHTS – Two mothers find strength in each other as they fight for a potentially groundbreaking treatment for their daughters.
Emily Knopik’s 5-year-old daughter Mae and Megan Hieb’s 3-year-old daughter Lucy share the same genetic disorder.
“Both have CTNNB1 Syndrome. It is a rare neurodevelopmental disorder. “There are less than 500 people diagnosed worldwide,” Emily explained.
Megan’s daughter, Lucy, was diagnosed at four months old. She began researching everything she could and eventually discovered Emily.
“A lot of people, they are the only one in their state who has it, so the fact that we have each other and our girls in the same county is pretty special,” Megan told me.
Dakota County mothers are raising funds to support research for a gene therapy clinical trial in Europe. On Saturday morning, approximately 200 people gathered at the Simley High School track for the family’s first 4K, Steps for CTNNBI Syndrome. The entire amount raised will be used to fund trial research and development efforts.
“We are such a small group in that rare disease category that a lot of it does fall on us,” Emily admitted.
“Asking people for money is difficult, but it is the only way to get things done. Megan said, “It is on the parents.”
Last summer, both families went to Slovenia to take a step closer to finding a cure.
“They are creating and developing the protocol for the clinical trial, and Mae and Lucy were both evaluated, and we are very hopeful that… we are going to be a part of this,” Megan told me.
Megan stated that the CTNNB1 Foundation in Slovenia has raised more than four million euros and is approximately $350,000 short of their funding goal.
“If this gene therapy works and is successful. “It has the potential to change medicine,” Megan said.
Megan and Emily both expressed gratitude for each other as their families navigated a road few have taken before.
“We share our girls’ highlights. They have made incredible progress, and they are the most special blessings, but people do not always see the difficult times,” Megan said.
“It is just so nice to have somebody who actually understands,” Emily told me.
Emily described Mae’s monumental moment this fall as taking her first steps on her own.
Emily and Megan mentioned that not every day is easy, but there are many beautiful moments.