Tay-Sachs Disease: Background information when reading The Still Point of the Turning World

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The Still Point of the Turning World

By Emily Rapp

The Still Point of the Turning World
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  • Hardcover: Mar 2013,
    272 pages.
    Paperback: Feb 2014,
    272 pages.

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Beyond the Book:
Tay-Sachs Disease

At the age of nine months, Emily Rapp's son Ronan was diagnosed with a deadly disease called Tay-Sachs. The disease is caused by the lack of a vital enzyme called hexosaminidase-A (Hex-A); the result is a progressive buildup of a fatty substance in nerve cells that causes destructive neurological decline and eventually death. There is no cure. A baby with Tay-Sachs can appear "normal" up until six months, although the disease is present even in the fetal stage; at that half year point, however, any developmental progress begins to decline, and the child who could once crawl or babble is eventually unable to see, move, or even hold his or her head upright.

NTSAD Tay-Sachs is a genetic disease, named for Warren Tay, a British opthamologist who, in 1881, first identified a characteristic red spot on the retina, and Bernard Sachs, a New York neurologist who, a few years later, described the cellular changes of the disease. Many people know that Tay-Sachs is prevalent in the Ashkenazi ...

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