Diagnostic puzzle: After four years, geneticist unravels mystery illness in four hours

| | May 22, 2017
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This article or excerpt is included in the GLP’s daily curated selection of ideologically diverse news, opinion and analysis of biotechnology innovation.

During his first years of life, the boy saw a laundry list of specialists. He suffered from heartburn and his family learned he had breathing problems because of a floppy windpipe, known as laryngomalacia. Doctors learned he held his head at an angle because he had torticollis, or an abnormally tight muscle in the neck.

But those weren’t the only obstacles he faced. He walked and talked late, not sitting on his own until he was a year old — a milestone babies typically hit around 6 months — and finally starting to coo almost a year and a half late.

He underwent intense therapy, and by the time he was 3 years old, he could communicate using signs and pictures; leg braces helped him stand. Yet even as the boy persevered, rising to every challenge and working harder than other kids to reach every milestone, a question gnawed at the family: Why?

That’s where Dr. Daryl Scott, a genetics specialist at Baylor College of Medicine in Houston, came in.

Although the test showed there was a chunk missing of the toddler’s X chromosome, this abnormality — called Xp11.22 — wasn’t linked to a known genetic disorder, so it had been dismissed as unrelated to his symptoms.

The GLP aggregated and excerpted this blog/article to reflect the diversity of news, opinion, and analysis. Read full, original post: After four years, it took a geneticist a few hours to unravel a boy’s puzzling illness

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