MOBILE, Ala. (WALA) – Shreve McWilliams is so happy every day despite the challenges that she has faced since she was born. Her parents discovered through private genetic testing that she has a very rare condition called CTNNB1 syndrome. This extremely rare genetic neurodevelopmental disorder is caused by changes (pathogenic variants or mutations) in the CTNNB1 gene. She’s one of 430 diagnosed individuals in the entire world.
Her condition was a “de novo” case, meaning that it was just a freak occurrence and not passed down hereditarily. The CTNNB1 gene provides instructions for making a protein called beta-catenin. This protein is present in many types of cells and tissues so the symptoms of CTNNB1 Syndrome are extensive. One of the most challenging is mobility because she can’t crawl or walk.
CTNNB1 Connect & Cure started a new fundraising campaign where you can donate directly in honor of Shreve!
Donation link: https://givebutter.com/dragonfly/shrevemcwilliams1
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