Mystery Diagnosis

Season 3 Episode 7

Frenetic Genetics

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Aired Monday 10:00 PM Aug 27, 2007 on Discovery Health
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Frenetic Genetics
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Ever since she was born, young Ashley Wolf has been dealing with diarrhea. She develops a voracious appetite, learning problems, and even cataracts. It turns out that Ashley has a genetic, metabolic condition called Cerebrotendinous xanthomatosis (CTX). Young ER nurse Nissa Penland has been healthy and busy until she experiences night sweats, fever, and abdominal pain. Initially, she believes she may have a virus, but her lymph nodes soon become swollen, she becomes bloated and too nauseated to eat, her spleen becomes enlarged, and her hands swell up. Nissa fears she may have lymphoma, but actually she has been suffering from adult-onset Still's disease.

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