The PKU Paradox: A Short History of a Genetic Disease

Foreword

FOREWORD Disease is a fundamental aspect of the human condition. Ancient bones tell us that pathological processes are older than humankind ’s written records, and sickness and death still confound us. We have not banished pain, disability, or the fear of death, even if we die, on the average, at older ages, of chronic and not acute ills, in hospital or hospice beds and not in our own homes. Disease is something men and women feel. It is experienced in our bodies —but also in our minds and emotions. It can bring pain and incapacity and hinder us at work and in meeting family responsibilities . Disease demands explanation; we think about it and we think with it. Why have I become ill? And why now? How is my body different in sickness from its unobtrusive functioning in health? Why in times of epidemic has a community been scourged? Why do some infants fail to thrive? Answers to such timeless questions necessarily mirror and incorporate time- and place-specific ideas, social assumptions, and technological options. In this sense, disease has always been a social and linguistic, a cultural as well as biological entity. In the Hippocratic era more than two thousand years ago, physicians were limited to a sufferer’s words and to the evidence of their own senses in diagnosing a fever, an abnormal discharge, or seizures . Their notions of the material basis for such felt and visible symptoms necessarily reflected and incorporated contemporary philosophical and physiological concepts, a speculative world of disordered humors, “breath,” and pathogenic local environments. Today we can call for understanding upon a rather different variety of scientific understandings and an armory of diagnostic tools that allow us to diagnose ailments (and even the likelihood of ailments) unfelt by patients and imperceptible to the doctor’s unvii aided senses. In the past century, disease has become increasingly a bureaucratic phenomenon as well—as sickness has been defined and in that sense constituted by formal disease classifications, treatment protocols, and laboratory thresholds. Sickness is also linked to climatic and geographic factors. How and where we live and how we distribute our resources all contribute to the incidence of disease. For example, ailments such as typhus fever, plague, malaria, dengue, and yellow fever reflect specific environments that we have shared with our insect contemporaries. But humankind’s physical circumstances are determined in part by culture—and especially agricultural practice in the millennia before the growth of cities and industry. Environment , demography, economic circumstances, and applied medical knowledge all interact to create particular distributions of disease at particular places and specific moments in time. The twenty-first-century ecology of sickness in the developed world is marked, for example, by the dominance of chronic and degenerative illness—ailments of the cardiovascular system, of the kidneys, and cancer. What we eat and the work we do or do not do—our physical and cultural environment—all help determine our health and longevity. Disease is historically as well as ecologically specific. Or perhaps I should say that every disease has a unique past. Once discerned and named, every disease claims its own history. At one level, biology creates that identity. Symptoms and epidemiology as well as generation-specific cultural values and scientific understanding shape our responses to illness. Some writers may have romanticized tuberculosis—think of Greta Garbo as Camille—but, as the distinguished medical historian Owsei Temkin noted dryly, no one had ever thought to romanticize dysentery. Tuberculosis was pervasive in nineteenth-century Europe and North America and killed far more women and men than cholera did—but never mobilized the same widespread and policy-shifting anxiety. It was a familiar aspect of life—to be endured if not precisely accepted. Unlike tuberculosis, cholera killed quickly and dramatically and was never assimilated as a condition of life in Europe and North viii Foreword America. Its episodic visits were always anticipated with fear and tense debates over public health. Sporadic cases of influenza are normally invisible, indistinguishable among a variety of respiratory infections; waves of epidemic flu are all too visible. Syphilis and other sexually transmitted diseases, to cite another example, have had a peculiar and morally inflected attitudinal history. Some diseases, such as smallpox or malaria, have a long history, others, like AIDS, a rather short one. Some, like diabetes and cardiovascular disease, have flourished...