AR-News: (US)The Case of the Cherry Hill Cluster

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Sat Mar 27 22:35:10 EST 2004

Janet Skarbek, amateur medical sleuth: It looks like mad cow to her, but
is it?
Janet Skarbek is 36 years old and lives in Cinnaminson, N.J. She is the
author of ''Planning Your Future: A Guide for Professional Women,'' a book
about managing the unknown. It was published in 2001 by the Professional
Women's Institute, a small networking and support organization that
Skarbek and three other women jointly ran out of their homes.
Early on in Mahan's illness, one of her doctors, Peter Crino, wrote on her
chart, ''Could this be C.J.D.?'' -- by which he meant Creutzfeldt-Jakob
disease, a fatal brain disorder often characterized by myoclonus jerks,
loss of coordination and sometimes dementia. C.J.D.
Unlike many diseases, C.J.D. is caused not by a virus or bacteria but by a
misformed prion (a type of protein) that no longer performs its proper
function in the body. Prions -- at least according to current scientific
thinking -- cause several other diseases, most notably bovine spongiform
encephalopathy, or mad cow disease. Prion diseases are unique because of
the number of ways they can occur. They can result from a genetic mutation
that generates the harmful prion or from an infection of prions from an
outside source, most likely in meat that is consumed -- or simply by
chance: a certain number of proteins in the body just happen to lose their
shape over time and bring about the disease.

Mahan's doctors were not sure which of these versions of C.J.D. she may
have had. Her prion gene was found to be normal. And since no one was
known to have gotten mad cow disease in the United States, the possibility
of infection seemed remote. Her C.J.D. was most likely the third kind. It
had no direct cause. In medical parlance, the disease was sporadic C.J.D. 

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