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.
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 Jewish community, in which 1 in 27 people is a carrier of the disease (both parents must be carriers in order for a child to develop the disease). But, as Rapp points out in her memoir and in an earlier essay on Salon.com, the common screening tests done for Tay-Sachs look for the specific mutations common to the Ashkenazi Jewish variant of the disease, and fail to check for the more than eighty other mutations that can result in the disease - including the variant that Rapp herself carries.
The National Tay-Sachs and Allied Diseases Association is the primary patient and family advocacy group devoted to providing support for patients and their families and advocating for additional research into this rare but fatal condition. Their website provides a great deal of information about the disease as well as summaries of current research, ideas for how the public can get involved, and conferences, discussion groups, and other advice and support for families.
This article was originally published in March 2013, and has been updated for the
February 2014 paperback release.
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