Shreve’s Story: Finding a cure for CTNNB1

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.

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