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CTNNB1 mom, Ashley Swift, shares the incredible story of how her daughter was misdiagnosed with Cerebral Palsy. She even went against one doctor's recommendation and got her daughter, Evelyn, genetic testing. Hear about the power of finding the right diagnosis and how it has helped her daughter in so many ways.
(A recent article from Mark Corbett and Sayaka Kayumi from the University of Adelaide in Australia shows that CTNNB1 can often be misdiagnosed as Cerebral Palsy. Studies show that ONE-QUARTER of CP cases are genetic in nature. In their study, CTNNB1 was the most frequently affected gene (4% of all diagnoses) in a group of 1345 individuals analyzed.)
