DOORS

My Son failed his hearing test at birth and the more advanced analysis. I then notice he was missing his fingernail on his pinky and one of his thumbs looked a little odd. Then the end of May he started these screaming episodes where he would tense his entire body, nothing could comfort him, and it looked like he couldn't even see you. NOTHING HELPED. I took him to the doctor and they thought it was acid. I also had this video of his arm shaking that I thought was weird. He started an antiacid. 1 week later it happens again this time he had a fever, so we went to Children's Hosptial Pittsburgh, where they had to do the fever protocol. Lumbar puncture, blood draws, etc. They thought it was a virus. I asked if we could be observed overnight, and I had a video of a weird eye twitch from earlier that day. They kept us, and I asked him to work my son up to rule out a seizure. The MRI and Xray looked good; The EEG was abnormal, so they kept my son for a night study. He had 3 seizures that night and started anti-seizure medications. We then had genetic testing which came back with DOORS.