Before his first birthday, Sam was diagnosed with MEF2C haploinsufficiency syndrome, a rare genetic neurological condition that causes severe developmental delays, seizures and other serious health challenges. “In the days and weeks following the diagnosis, it was a pretty dark cloud over our family, a lot of tears,” his mother, Erin Kindrachuk, told CTV News. “Reorienting to what we thought life was going to be like to what this new life would be like,” she added, noting Sam will need lifelong care. Now two-and-a-half, Sam sees about seven pediatric specialists and has regular medical appointments. His parents both work full-time and rely on friends and family for support. “Anybody who’s a parent knows it really does take a village. But that expression takes on a whole new meaning when you’re parenting a kid with rare disease,” Kindrachuk said. She said she and her husband, Chris Knihnitski, worry about Sam’s future and about balancing his needs with those of their other two children. “It’s a constant juggling act,” she said. While juggling those challenges, Kindrachuk and Knihnitski also began searching for answers. After speaking with researchers and geneticists, they learned new treatments, including gene therapy, are showing promise for some rare genetic conditions. “That led us to creating a foundation that led us to initiating some research in the hopes that a drug can be developed to help Sam and kids like him deal with those symptoms,” Knihnitski said. He said the current system makes it difficult to advance research into rare diseases, leaving families to drive much of the effort. “Any progress being made happens exclusively on the backs of parents who are already overburdened,” he said. He and Kindrachuk launched the MEF2C Family Foundation Canada in the fall of 2024 and partnered with a leading U.S. gene therapy expert to develop potential treatments for children with the condition. To support the research, the foundation is hosting its first fundraiser, the Pure Ima(gene)ation Benefit, at TCU Place on March 28. “We will be having a lively cocktail hour with entertainment, a magician, a program and a band playing throughout,” Knihnitski said, noting there will also be a buffet and a silent auction. Tickets are available at mef2c.org.
