MINNEAPOLIS: A family from Minnesota is currently in a battle to secure their daughter’s future.
At just four years old, Mae Knopik is one of only 430 individuals in the world affected by an incredibly rare genetic mutation.
At the age of 1.5 years, Mae received a diagnosis of CTNNB1 syndrome, a neuro-developmental disorder.
According to Mae’s mother, Emily Knopik, her daughter is non-verbal and requires assistance to walk. Additionally, Mae has a cognitive disability and developmental delay.
According to Emily and Joe Knopik, the genetic mutation they have is completely random and was not inherited from their parents.
Mae’s parents have journeyed across the globe to seek out the best treatments and therapies for their child. Additionally, they established a nonprofit organization called Mae’s Mission.
Mae is under consideration as a participant for a clinical trial of a promising gene therapy, with efforts underway to raise funds for the study.
Joe Knopik, Mae’s father, expressed his excitement about the clinical trial, stating that it has the potential to change their lives. However, he also acknowledged feeling fear as it involves their child and is a clinical trial.
According to the Knopiks, the responsibility of fundraising and spreading awareness about the disorder primarily rests on their shoulders and those of the other families going through similar experiences.
It’s amazing to know that Minnesota is home to four other children who have CTNNB1. Emily Knopik mentioned that many doctors have shown a keen interest in their discussions.
Next month, the Knopiks will be hosting a charity golf tournament to raise funds for Mae’s clinical trial. The success of the tournament can play a crucial role in bringing hope to Mae and ensuring that she regains some of her lost function.
Emily Knopik shared that she avoids thinking too far ahead as it tends to bring out her emotions. She expressed her desire for her daughter to become more independent as she understands that they won’t be around forever.
If you are interested in learning more about Mae’s Mission and the upcoming golf tournament, simply click here.