Manage episode 285688618 series 2158728
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 CAMK2 mutations. It is so new that they are just beginning studying this in humans and there isn’t a formal “syndrome name” as of yet.