When Effie Parks’ five-year-old son Ford was diagnosed with CTNNB1 syndrome when he was 16 months old, he was one out of only 30 people in the world with it.
“Now there are about 200 other kiddos from around the world,” Effie said. “It was found in 2012, so all the patients popping up are pretty young, there aren’t a lot of adults to look towards to see what it’s going to be like in the future.”
Ford is not creating a protein called beta-catenin, a protein that helps cells grow and reproduce. This causes global developmental delay, sensitivity to light, a lack of pigment, hypotonia, dystonia, and eye problems. Ford is non-verbal, and can’t sit, crawl, or walk.