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My son was born with a rare genetic mutation called KCNQ2, which causes epilepsy, global delays, and a plethora of unknown possibilities. When my son was born I told the doctors that he was turning blue and having seizures and the doctors told me that it wasn’t likely and that he simply had gastric reflux. We were discharged and within an hour, at 2 days old, we were on an ambulance to our local children’s ER, where he was admitted for a month for a brain infection, which he also did not have and the treatment caused more issues for him. At 4 months old, we received his results for genetic testing and he was properly diagnosed with KCNQ2. Treatment is minimal because his diagnosis was unheard of locally. He is now 14 months old and seizures are well controlled and he is thriving. Although he sees a handful of specialists, and has medical and development trials, I know we have been incredibly lucky.
