Story about Door Syndrome .

DOORS

Aug 13, 2018

By: Heather

Year Condition Began: 2018


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.

Know someone who should read this story? Share it

0 comments

Login or register to leave a comment


Door Syndrome sports

Is it advisable to do exercise when affected by Door Syndrome? Which a...

Door Syndrome causes

Which are the causes of Door Syndrome?

Door Syndrome advice

Which advice would you give to someone who has just been diagnosed wit...

Celebrities with Door Syndrome

Celebrities with Door Syndrome

Door Syndrome is also known as...

Door Syndrome synonyms

Door Syndrome symptoms

Which are the symptoms of Door Syndrome?

Door Syndrome jobs

Can people with Door Syndrome work? What kind of work can they perform...

Door Syndrome diagnosis

How is Door Syndrome diagnosed?