Unrelenting belief in the goodness of humankind while confronting an uncommon disease.
Genesis: Born with Tay-Sachs
by Cary M. Berman; West Conshohocken, PA: Infinity Publishing; 2015110 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.
The author does not dissect the medical specifics. Rather, he ignites the reader’s interest enough to want to learn more about his “medical challenge” that comes in the form of LOTS. Further reading reveals that many such persons will recall childhood clumsiness or early speech problems-but problems with climbing stairs often leads potential patients to neurologists.3
The rarity of this neurodegenerative disorder-compared with the overall prevalence of more “garden-variety” psychosis-makes it unlikely that psychiatrists will suspect this diagnosis. However, a family history of Tay-Sachs should raise suspicions and lead to laboratory testing. Concomitant speech, balance, or gait problems of advanced disease cause more concern-but adolescents or adults with LOTS rarely show the characteristic “cherry red spot” seen in infants.
Identifying LOTS may seem to be an exercise in futility, given the lack of effective treatments and the generally grim prognosis imparted by this diagnosis. However, several online sources confirm that patients appreciate an explanation for inexplicable symptoms that plagued them for years and they are relieved to know that their lackluster sports performance did not result from “not trying hard enough.”
In contrast to the “exposÃ©-style” narrative about medical shortcomings, Berman’s appreciation of his physicians reminds us of the relationships that existed between doctors and patients before the antibiotic era, when medical care often consisted of little more than hand-holding and offers of hope.
At a time when many physicians feel overwhelmed by patients’ expectations of perfection, Berman reminds us of the value of “just being there” and showing compassion and concern. Berman hopes to raise awareness of this rare disorder, and it is this author’s hope that this review will aid his endeavor.
Relevance to psychiatry
There is a generational divide in TS awareness. The infantile form of Tay-Sachs was essentially obliterated in the Jewish community when prenatal genetic testing became available in the 1970s and marriages between carriers were avoided after widespread public awareness campaigns.
For people born in the 1950s, it was a dreaded disorder. For more recent generations, however, TS has been about as relevant as diphtheria (which my father often talked about because it killed children and his siblings in his day, just before it became preventable by vaccine). LOTS has received renewed attention because of recent reports that open up the possibility for affordable treatment.4 Unfortunately, clinical trials were recently delayed by financial constraints.5
Researchers at NYU make a very good case for increased awareness of late manifestations of this disorder.3 They recommend testing in persons with non-responsive psychiatric symptoms-especially, but not exclusively, if they show speech, balance, or gait abnormalities or if they have a positive family history of any variant of TS. However, many families “shield” younger members from this painful and perhaps shameful history, so negative family history alone is insufficient.
Intermarried families may be unaware of their lineage. It is especially interesting that some mainstream psychotropic drugs (such as phenothiazines or tricyclic antidepressants) can worsen psychotic symptoms in LOTS because they increase the same metabolites that accrue in TS.6 Lithium and ECT do not carry such risks, but it is unclear if newer psychotropic medications incur the same risks as those older mainstay medications.
This article was published on June 24, 2016 and has since been updated.
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.