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Juvenile Huntington’s Disease: The Cruel Mutation

Posted by Hasina , 04 June 2013 · 361 views

Juvenile Huntington’s Disease: The Cruel Mutation

By Ricki Lewis, PhD

Looking back, signs that Jane Mervar’s husband, Karl, had Huntington’s Disease (HD) started about when their youngest daughter, Karli, began to have trouble paying attention in school. Karl had become abusive, paranoid, and unemployable due to his drunken appearance. The little girl, born in September 1996, was hyperactive and had difficulty following directions. When by age 5 Karli’s left side occasionally stiffened and her movements slowed, Jane began the diagnostic journey that would end with Karli’s diagnosis of HD, which had affected the little girl’s paternal grandmother.

Soon Karli could no longer skip, hop, or jump. And new troubles emerged. ”She had cold sweats, tachycardia, and chronic itching. She fell and suffered chronic pain. By age 6 she was losing her speech and became withdrawn,” Jane recalls. Karli drooled and her speech became unintelligible. By age 7 her weight had plunged, and by 8 she developed pneumonia three times due to difficulty swallowing. By age 9 she required a feeding tube, suffered seizures, and would go long periods without sleep.

More: http://blogs.plos.or...cruel-mutation/




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