02/28/2026
I never imagined I would learn how to pronounce a gene name… let alone have it become the word that changed our entire world. But CTNNB1 did.
CTNNB1 syndrome is ultra-rare — fewer than 500 diagnosed individuals worldwide. A number so small it feels impossible… until you realize every single one of those numbers is a child who fights harder than anyone should ever have to. Children who work for months, sometimes years, just to speak a single word… take a single step… communicate a single need.
And while they fight, we fight too. We fight through the moment a doctor looks you in the eye and tells you your child may never walk or talk.We fight through hospital rooms and fluorescent lights and the sound of our own child crying as we hold them down for blood draws, testing and exams—anything that might give us answers, or hope, or both. We fight through hours of therapy every day, because while other kids climb trees and chase friends, ours are learning to strengthen muscles that don’t cooperate, bodies that feel heavy, communication that takes everything they have.
We fight grief we never asked for. We grieve the childhood they deserved. We grieve the future we thought we’d have—team sports, school dances, college visits, weddings. Instead, we are researching symptoms, advocating, and trying to financially plan for a system that is already failing the families who rely on it. It’s terrifying. It’s exhausting. It’s unfair.
And yet—our children are resilient.They are joyful. They are determined. They shine in ways the world doesn’t always see. They deserve more.
CTNNB1 Connect & Cure and CTNNB1 Foundation are fighting for that “more.” They are funding research, supporting families, uniting scientists, and pushing forward toward real treatments—because our kids shouldn’t have to work this hard forever. And neither should we.
But research does not move without funding.
Progress does not happen without people who care. If you have ever wanted to make a real, tangible difference in a rare disease community—this is that moment. Donate. Share. Stand with these incredible dragonflies and the families who love them fiercely. Because rare doesn’t mean small. Because our kids deserve every chance at a brighter, fuller future.
Donate:
https://givebutter.com/dragonfly/shrevemcwilliams1
https://givebutter.com/ctnnb1genetherapy/shrevecoopermcwilliams
