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The Washington Post: Doctors said the boy was suffering from teenage psychosis. What he really had was a rare genetic condition.

By Jamie Talan

When he was 15, Adrian Batson walked into the family room one morning with a glazed look. He was always chipper, but on that day he stared into the mirror and asked, “Mom, why is there a skeleton in the mirror?” Tonya Batson, his mother, thought he was joking. “Oh, Adrian, there’s no skeleton in the mirror.”

His gaze pierced the glass. He looked down at his hands. “Mom, why do my arms and my legs look like a skeleton?”

She looked up hoping to see a smirk and then hear his hearty laugh, but there was nothing. He was silent. He just stared. She would come to know this look well.

For the next year, Adrian was in and out of the psychiatric wing at the University of Kansas and at a nearby private psychiatric facility, and no one could tell her why he was seeing things that were not there, and what was wrong with him. The last hospitalization that year led to a dangerous mix of antipsychotic drugs that landed him in the emergency room at Children's Mercy Hospital in Kansas City.

Fortuitously, pediatric neurologist William Graf was on call that day and walked into the room where the teenager was moaning and his body would not stop shaking. Graf had already read the charts and studied his medical history. As he looked at Adrian, he noticed what all the other doctors had not: the boy’s prominent nose with squared-off nasal tip, low nasal bridge, small mouth, small chin, high-arched palate, small rounded ears and flat feet.

He turned to Adrian’s mother and grandmother. “I know what’s wrong with Adrian,” he said.

Adrian’s psychosis was actually a symptom of a genetic disease called velocardiofacial syndrome, or VCFS, Graf said. The boy’s slight physical anomalies were some of the 180 physical and behavioral features that have been described in the syndrome. One in 5,000 people are born missing a small piece of genetic material on chromosome 22. For most people, it is discovered at birth because of obvious heart and facial defects, but some, like Adrian, have very subtle signs. Graf immediately ordering a genetic test. It came back positive.


Read the full story via The Washington Post

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