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Podcast: PodcastDX
Episode: Rare Disease CAMK2 Genetic Mutation
Description: Our guest today is Karen is a wife and mother to 5 children. Her youngest, who is now 13 was born seemingly healthy. In her first weeks it became clear that she wasn't developing normally. After 10 years of looking for a diagnosis and not finding answers, they decided to do whole exome sequencing. That finally gave them an answer. She has a mutation of her CAMK2 gene. It was so newly discovered that only a handful of people were diagnosed with this. Since it has been discovered, more children are being found to be in the family of CA...