A Story About Josef Warkany

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Extract from: American Journal of Medical Genetics 33:522-536 (1989). Requests for Reprints University of South Alabama, College of Medicine, Department of Medical Genetics, Mobile, Alabama

Part 5

As an immigrant to Ohio, Don José had to "take a belated state board examination ... and I learned that the symptoms of chronic arsenic poisoning ... had a resemblance to acrodynia." In 1945, when confronted with a patient showing poisoning symptoms, Dr. Warkany's search for arsenic revealed instead the presence of mercury. These events were the first step in the eradication of acrodynia, a serious disease of childhood but progress was slow. In 1954, there still were as many as 30 million calomel-containing teething powders sold by a single British pharmaceutical firm. In 1966 he wrote "Acrodynia, Postmortem of a Disease" and noted that "there is nothing more dead than a dead disease ... but there is always merit of looking backward ... to pause and contemplate ... not to reminisce about old times, but to learn from the experiences and errors of the past" [Warkany and Hubbard, 1948, 1951; Warkany, 1966]. The initial reaction of colleagues from across the Atlantic ocean was to bestow on the work of Don José the title of "trans-Atlantic madness." Such triumphs should not be forgotten.

With author and Mrs. Susan Wertelecki seeking news about teratogens from the popular magazine "Mother Jones" (Stanford University, 1981).

In 1949, Don José was admitted with tuberculosis to the Trudeau Sanatorium in Saranac Lake in New York. He became a "horizontal doctor" and wrote of his treatment by "vertical doctors," and his experience with psychoanalysis, and he depicted his feelings in his etching "Patient's Point of View," which has already been published [Brent, 1982]. This etching depicts a pair of bare feet and an empty solitary corner and is a reminder to those delivering prognostic or genetic counseling, as if the counselor had a choice of whether to strip those feet further and make the corner deeper or to help a patient walk again to find his own path. He said that at the time ".. . death seemed to be a happy solution ... our Board of Directors had generously promised to pay my expenses at the sanatorium, but when the stay became protracted ... it was thought that to withdraw this promise would increase my desire to get well.... But Don José was not forgotten. He received the American Academy of Pediatrics Borden Award of 1950 [Warkany, 1951]. It was then, he recalls fondly, that Dr. F. Clarke Fraser wanted to join him in Cincinnati. This was not possible, but he "became my best friend and mentor." Of Dr. Carleton Gajdusek and his deserved 1976 Nobel prize he speaks often as "the one house officer that made rounds at night and slept during the day ... produced brilliant observations ... and who in my hour of need offered me a job, of all places, in Afghanistan." Don José recognizes the influences of his "younger mentors" and has introduced generations of pediatricians to genetics through his contributions to the Mitchell-Nelson Textbook of Pediatrics. His concerns about dogmas lead Don José to often proclaim himself as an "antigeneticist,", "... the concepts of multifactorial ... life itself [are] multifactorial ... reduced penetrance ... reduced expressivity ... the causes and reasons for common sporadic congenital malformations ... including mutations remain unexplained".

In 1957, after meeting with Basil O'Connor, president of the National Foundation-March of Dimes, Dr. Warkany was instrumental in inducing the foundation to shift emphasis from poliomyelitis, a nearly vanquished disease, toward the study of "birth defects," a term that Don José did not favor because against the widespread belief that the problems of congenital malformations and those of inborn errors of metabolism are identical, it should be emphasized that there are striking differences in these disorders requiring different approaches ... the extension of the term [birth defects] ... may contribute little to progress, since not all congenital malformations are due to abnormal molecular structure [Warkany, 1977, 1978, 1979, 1981, 1986a].

For several years, Don José opposed the organization of a teratology society because "... the premature formalization of an emerging discipline could stunt its growth" while proclaiming that "... it must be realized that congenital malformations are manifestations of prenatal pathology, an area as large and complex as that of postnatal pathology ... obscured by the inaccessibility of the unborn ... and unresponsive to investigative methods traditional in postnatal research.... In April 1959, a conference on Congenital Malformations was taking place in Palm Beach, Florida. A series of landmark presentations were made and reported in the Journal of Chronic Diseases. The views expressed then by Don José on the role of congenital anomalies in the etiology of chronic diseases remain current now [Warkany, 1956]. Since then, congenital malformations have gained importance as causes of infant mortality and chronic disability. But at that time, a review by a steering committee of scientists, appointed by the National Foundation- March of Dimes and composed mainly of virologists linked to studies of poliomyelitis, judged that the study of inborn errors of metabolism and other genetic problems were of greater interest than studies of structural malformations. A few days later, during a walk along the edge of a nearby beach, Drs. Clarke Fraser and Jim Wilson and Don José decided that it was time to call for the creation of the first teratology society. One year later, the American Teratology Society, the first of its kind, was organized and Don José became president. When recalling these events, he mused "... how is one to convince virologists of the importance of structural malformations? .. I still think we should take care that molecular biology does not become mini-biology".

With Basil O'Connor (1959)

With David W. Smith and Robert L. Brent in Snowman Colorado (1979)

In 1986, the first Basil O'Connor Award was to be given to Don José. Asked by the National Foundation- March of Dimes, I reviewed the events of those days. Several colleagues recalled how nearly 30 years earlier Don José was persuasive about the importance of congenital malformations as a field for scientific investigations and how some concluded that "... the American people would not respond to an appeal focused on congenital malformations," while others recalled that the term birth defects was chosen because "... it was a decision based on the advice of Public Relations specialists." Concerning genetic counseling, Mr. Melvin Glasser, in his introductory speech at the award ceremony, recalled how Don José had advocated parental counseling in pediatrics, how such a suggestion met with a stonewall of opposition, and how the audience could judge now who was right and who was wrong [Glasser, 1986; Warkany, 1958, 1986b]. When Don José rose to give his acceptance speech he noticed that his tag indicated that he was from Chicago instead of Cincinnati, and said "... I am glad you found me at last ... this may explain why I have not heard from you for 25 years...." After the celebration dinner, while chatting with friends, Don José noticed that the award check was missing. He immediately proposed that the check may have been sent to Chicago, and when it was found abandoned on the podium, Don José still denied the possibility of the existence of Freudian slips.

Gallery of Etchings by Dr. Josef Warkany