Genesis: Born with Tay-Sachs
by Cary M. Berman; West Conshohocken, PA: Infinity Publishing; 2015
110 pages • $18.95 (softcover)
Genesis is a memoir about a retired attorney’s experiences with late-onset Tay-Sachs (LOTS) This book is more of a spiritual biography than a medical memoir, even though it revolves around an under-recognized variant of a well-known (yet rare) inheritable pediatric neurodegenerative disorder.
The book chronicles the author’s evocation of his personal religious faith and his unrelenting belief in the goodness of humankind as he confronts an uncommon disease that afflicts only 250 persons worldwide. (LOTS may affect many more people whose neuropsychiatric symptoms remain undiagnosed). Tay-Sachs (TS) was once believed to be a disease of infancy only—but that myth is slowly eroding.
TS, an autosomal, recessively transmitted affliction, was also believed to be exclusive to Ashkenazic Jews. However, more recent research reveals that it affects French Canadians in a corner of Quebec, as well as Louisiana Cajuns who claim the same genetic stock as the Quebecois.
Surprisingly, researchers at the Bronx-based Albert Einstein Medical Center identified LOTS carriers and full-blown TS disease in the Irish population. Although exact prevalence rates are still forthcoming, it seems that one in 30 to 50 persons of Irish descent is a carrier (in contrast to 1/23 to 1/30 persons of Ashkenazic Jewish descent).1,2
As Genesis comes to a close, Berman tells us, in painstaking (and painful-to-read) details, how LOTS ultimately interferes with his ability to function as a lawyer. It also leads to his taking disability leave—but not until he practiced criminal defense law for nearly a quarter century.
In spite of his “medical challenge” (as he calls it), Berman’s ability to appreciate the efforts of others never waivers. He applauds relatives, co-religionists, co-workers, physicians, and other health care professionals. As time goes on, it becomes apparent that his own acts of “loving kindness” toward others offer him the most solace.
So many medical memoirs excoriate medical professionals—or Big Medicine or Big Pharma—and deride them for their failure to find effective cures, make accurate diagnoses, offer affordable medications, or all of the above. Yet Berman’s book lauds those medical professionals who stand by his side, even though they cannot stop his disease.
He seems relieved to learn that adult LOTS progresses much more slowly than its more common infantile counterpart. TS robs seemingly normal infants of their ability to see, speak, or sit upright after a few months of life, and typically claims young lives before age 5 years.
LOTS is supposedly compatible with normal life expectancy, although some succumb much earlier. Berman informs us that LOTS has been mistakenly diagnosed as ALS or multiple sclerosis—and that 40% to 50% of patients experience serious psychiatric symptoms, such as psychosis or, in his case, bipolar disorder.
Dr Packer is Assistant Clinical Professor of Psychiatry and Behavioral Sciences, Albert Einstein College of Medicine, in the Bronx, NY. She is in private practice in New York City. The author reports no conflicts of interest concerning the subject matter of this article.
1. National Tay-Sachs & Allied Diseases Association. Irish Tay-Sachs Carrier Study. http://www.tay-sachs.org/irish_taysachs_study.php. Accessed July 7, 2016.
2. Marcus AD. Study looks at Irish risk for a rare fatal disease. Wall Street Journal. June 25, 2012. http://www.wsj.com/articles/SB10001424052702304458604577488842861558400. Accessed July 7, 2016.
3. Neudorfer O, Pastores GM, Zeng BJ, et al. Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients. Genet Med. 2005;7:119-123.
4. Birkner G. Doctors look to raise Tay-Sachs awareness among Louisiana’s Cajuns. Forward.com. August 21, 2008. http://forward.com/culture/14042/doctors-look-to-raise-tay-sachs-awareness-among-lo-02396. Accessed July 7, 2016.
5. Resmovits J. After late-onset Tay-Sachs trial is pulled, parents pull together. Forward.com. August 19, 2009. http://forward.com/culture/112418/after-late-onset-tay-sachs-trial-is-pulled-parents. Accessed July 7, 2016.