From Mapping Fate: A Memoir of Family, Risk, and Genetic Research (pp. 195-199)
by Alice Wexler
? 1995 by Alice Wexler
Used by permission of Random
House, Inc. No use of this material is authorized without the express written
consent of the Publisher.
(Posted December 5, 1997 ? Issue 21; archived December 19, 1997)
Editor's Note: In 1968, Alice and Nancy Wexler learned that their mother had been diagnosed with the progressive, fatal neurodegenerative Huntington's disease, and that they each had a 50 percent chance of inheriting it themselves. Mapping Fate tells of the Wexler family's pain and courage as they confront tragedy, and of their vital contribution to the study of Huntington's disease (and, by extension, many similar hereditary diseases). Nancy became a key figure in Huntington's research. In 1983 she directed a project to conduct neurological examinations of, collect blood and tissue samples from, and document family histories (or "pedigrees") of the people of the Lake Maracaibo region in Venezuela. This is a small population both genetically linked and riddled with Huntington's disease, which they call el mal de San Vito, or simply el mal, "the sickness." The study led to a major breakthrough - the identification, using restriction fragment length polymorphisms (RFLPs) in genetic mapping, of a DNA marker for Huntington's disease. This would later lead to the identification of huntingin, the protein involved in the disease.
Alice Wexler (who had been a Fulbright fellow in Venezuela) accompanied her sister to Lake Maracaibo to explore the history of the communities, and helped to interview the local people. Here she records her observations and feelings as she witnesses the pain, fear, courage, and dignity of people suffering either the tortures of disease, or (as she herself suffers) the tortures of uncertainty.
A note on the text: a "draw day" is one on which blood and tissue sample are taken. Ira Shoulson, Anne Young, and Jack Penney are neurologists on the research team.
March 15, 1983. Notes from a visit to Barranquitas, a town two hours south of San Luis:
In our two big Chevy Malibus, we turn off the main highway onto a dusty; unpaved street and arrive in front of the clinica, a one-story aquamarine cinder-block building with a dirt yard enclosed by chain-link fence. Our arrival in Barranquitas arouses the neighborhood, and we are immediately surrounded by curious people, as if we were a visiting theater troupe. The clinic is locked. Across the street, facing the lake, a palm-thatched lean-to serves as a cafe, with a few chairs scattered out front. "Pablo" [not his real name], a man in his thirties with severe chorea, is having a beer, writhing and twisting and grimacing all the while. Here even people in the advanced stages of Huntington's are out in the streets, mixing with their neighbors. "Vamos a hablar con la genie [let's go talk to the people]," says Anne Young as she walks over to greet Pablo.
We open the clinic, which consists of a large, empty room opening onto two small examining rooms, with a bathroom in the back. We haul in boxes, valises, cartons, Styrofoam coolers full of Coca-Cola and Chinotto, a sweet Venezuelan soft drink. Today is another draw day. Soon people are milling about, waiting their turn, waiting, too, for the vitamins and bolivares that go along with the exam.
Inside the examining rooms or visiting people's houses, Ira Shoulson, Anne Young, Jack Penney and Maria Ramos, a young medical geneticist with an M.D.-Ph.D. from Bilbao, Spain, alternate between giving "neuros" to the individuals in the study and treating people for infections and injuries. In the big, crowded central room, Helen Travers, a genetic counselor from Miami, records pedigrees with accuracy and elegance, even with several children climbing all over her. Nancy stands at the entrance to the examining rooms for hours at a time, inspecting the lists of names, handing out labels to identify vials of blood, smiling, consulting, motioning people inside or out, urging some to wait just a little longer, advising others that they do not need to wait today The work demands precision and accuracy, for one wrongly labeled vial of blood, one incorrectly diagnosed individual, can set back the molecular study for months. Nancy is physician, nurse, ethnologist, psychologist, diplomat, photographer, neurologist, geneticist, and general all rolled into one, a fact that does not escape some of the male members of the team, distinguished doctors themselves, who sometimes complain about having to take orders, especially from a young woman. "When you check in at the hotel, leave your huevos in the safe-deposit box," jokes Ira Shoulson. Yet the fact that many team members are female also disarms resistance among some anxious men, who fear giving blood will lower their sexual potency.
Outdoors I speak first with "Rogelia," an anxious-looking woman in her mid-thirties with short brown hair and a wide, worried face. She speaks rapidly to me about her mother, a woman of about fifty, gap-toothed with short black hair and wearing a black cotton dress. The mother embraces me impulsively with excessive clinging. Though she has relatively little chorea, her motions are exaggerated, floppy and slow. She smiles too much, at inappropriate moments. Rogelia frowns. Her mother is impossible at home, she says. She fights with everyone, hits the children, and spends all day sweeping. Rogelia wants calmantes, tranquilizers, for her mother - perhaps also for herself. She is frantic. I promise to request the calmantes from the doctors. My job today is to go through a "staging" questionnaire with her, to determine how well her mother can function and which stage of the disease she might be in. The questionnaire, constructed by Ira Shoulson, is designed to test how well an individual with Huntington's can perform daily tasks, such as working outside or inside the house, handling money, making decisions about food, washing, and dressing, and how much assistance they might require.
We squat on a small ledge behind the clinic and immediately attract a small audience. The lack of privacy is disconcerting, but Rogelia is too upset to notice. She says her mother cannot contribute any work in the household. Her own husband has gone off with another woman. He too has el mal in his family although he apparently is not affected. She gives me a good account of all his brothers and sisters and parents for the pedigree.
"Jose" saunters up unsteadily. He is a slight, handsome man of about forty-eight with broad, high cheekbones and thick, dark curly hair graying at the temples, a graceful man, smiling and swaying like a friendly drunk. He has the jerky gaze of many people with HD, a difficulty in shifting focus. He talks in sudden bursts. Later in the morning he leads me off to the house of Pablo, whom we meet walking toward us down the street. Pablo is fair-haired, freckled, and flaco, thin. We try to persuade him to come to the clinic. Although his speech is almost unintelligible, he understands our request. He turns abruptly toward his home. We follow him into a house with a large front room, bare except for a table in one corner. Pablo, twisting and writhing, disappears into the back room and returns, somehow managing to carry a chair. He disappears again and hauls out another chair, then another, making clear that he wishes us to sit down. His graciousness amid such dire poverty and notwithstanding his extreme disability suddenly move me to tears. Then Pablo's uncle appears, apparently one of the lucky ones who has escaped the disease. He is a man of about sixty with several gleaming gold teeth and a gentle, resigned, matter-of-fact manner. This uncle has assumed total care of Pablo, whose mother and father are both dead. He obviously feels great sympathy for his nephew. I encourage them both to come to the clinic later in the day. Then Jose and I walk back to the clinic. Jose has nine children. One son died of juvenile Huntington's at the age of nine. Another son (whom we meet later in Laguneta), a beautiful blond sixteen-year-old, is gradually sinking into the weakness and rigidity characteristic of the illness in children and adolescents. Jose tells me firmly, "All my children are normal."
I speak in the afternoon to several teenagers who are worried and frightened about el mal. They say people make fun of the San Viteros, hacen burla, they ridicule them and tease them in the streets. I ask two cousins: If you could find out that a fetus would have the gene for el mal, would you seek an abortion? The girl, eighteen, says yes; the boy no. A boy about twenty, looking very anxious, wants to know if there's hope for him. He thinks that since his father has el mal, he must get it too. I assure him he has a 50 percent chance of escaping the disease. Later a man whose family does not have el mal says that his mother told him never to marry a girl at risk for el mal, because she could get it and their children could get it. He took her advice, though his brother did not. People who are healthy do not want to marry those who inherit el mal, he says frankly.
The people here believe that everyone who has a parent with the disease always inherits it from that parent, but only some people actually develop the symptoms. Perhaps it is a way of acknowledging the anxiety and loneliness of being at risk and the worry of constantly wondering when and if you'll get the disease. Being at risk means feeling different from both those who are not at risk and from those with Huntington's. It's an emotional state all its own. The Venezuelans seem to understand this - better, perhaps, than North Americans, who do not tolerate ambiguity well.
It is dark when we pack up the blood samples, take Polaroid photos of the kids who are still hanging around the clinic, pass out candy and then pile into the Chevys for the ride back to Maracaibo, where later that night we will pack the samples into Styrofoam boxes for the next morning's dash to the airport. We blast the Talking Heads on the cassette player in the car and do not talk.
Alice Wexler is a research scholar at the University of
California at Los Angeles's Center for the Study of Women.
She is a former Fulbright fellow in Venezuela, and is the author of
Emma Goldman in America (Beacon Press, 1986) and
Emma Goldman in Exile: From the Russian Revolution to the Spanish Civil War
(Beacon Press, 1992). She lives in Los Angeles.
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Join our Beagle Discussions on neurodegenerative diseases.
The Hereditary Disease Foundation - a "nonprofit, basic-science organization dedicated to the cure of genetic disease," the foundation focuses on Huntington's disease as a model. The foundation provides grants and fellowships, and sponsors interdisciplinary workshops. The site covers
testing protocol and ethical, legal, and social issues; recommended reading; news; research funding; and links to related sites.
Huntington's Disease Society of America - a national voluntary health agency promoting HD research and supporting HD sufferers and their families. Site sections include: Publications and Videotapes; Genetic Testing for HD; HDSA's Research Grant and Fellowship Program; HD on the Internet; Where to Find Help, which provides information on HDSA chapters; Residential Care Facilities; HD/Movement Disorder Clinics; HD Research Roster and DNA Bank; Brain Tissue Banks; and the International Huntington Association. Most information is organized by state.
"Huntington's Disease Genetics" - a brief article on the genetics of the disease, with a graphic of affected DNA and the resultant protein huntingtin.
Online Mendelian Inheritance in Man (OMIN) Database - a catalog of human genes and genetic disorders, including text, images, and references. In addition to OMIN resources, links are also provided to "allied resources" including Entrez MEDLINE, the Davis Human/Mouse Homology Map; Online Mendelian Inheritance in Animals, and the Alliance of Genetic Support Groups.
In our two big Chevy Malibus, we turn off the main highway onto a dusty; unpaved street and arrive in front of the clinica, a one-story aquamarine cinder-block building with a dirt yard enclosed by chain-link fence. Our arrival in Barranquitas arouses the neighborhood, and we are immediately surrounded by curious people, as if we were a visiting theater troupe. The clinic is locked. Across the street, facing the lake, a palm-thatched lean-to serves as a cafe, with a few chairs scattered out front. "Pablo" [not his real name], a man in his thirties with severe chorea, is having a beer, writhing and twisting and grimacing all the while. Here even people in the advanced stages of Huntington's are out in the streets, mixing with their neighbors. "Vamos a hablar con la genie [let's go talk to the people]," says Anne Young as she walks over to greet Pablo.
Inside the examining rooms or visiting people's houses, Ira Shoulson, Anne Young, Jack Penney and Maria Ramos, a young medical geneticist with an M.D.-Ph.D. from Bilbao, Spain, alternate between giving "neuros" to the individuals in the study and treating people for infections and injuries. In the big, crowded central room, Helen Travers, a genetic counselor from Miami, records pedigrees with accuracy and elegance, even with several children climbing all over her. Nancy stands at the entrance to the examining rooms for hours at a time, inspecting the lists of names, handing out labels to identify vials of blood, smiling, consulting, motioning people inside or out, urging some to wait just a little longer, advising others that they do not need to wait today The work demands precision and accuracy, for one wrongly labeled vial of blood, one incorrectly diagnosed individual, can set back the molecular study for months. Nancy is physician, nurse, ethnologist, psychologist, diplomat, photographer, neurologist, geneticist, and general all rolled into one, a fact that does not escape some of the male members of the team, distinguished doctors themselves, who sometimes complain about having to take orders, especially from a young woman. "When you check in at the hotel, leave your huevos in the safe-deposit box," jokes Ira Shoulson. Yet the fact that many team members are female also disarms resistance among some anxious men, who fear giving blood will lower their sexual potency.
Outdoors I speak first with "Rogelia," an anxious-looking woman in her mid-thirties with short brown hair and a wide, worried face. She speaks rapidly to me about her mother, a woman of about fifty, gap-toothed with short black hair and wearing a black cotton dress. The mother embraces me impulsively with excessive clinging. Though she has relatively little chorea, her motions are exaggerated, floppy and slow. She smiles too much, at inappropriate moments. Rogelia frowns. Her mother is impossible at home, she says. She fights with everyone, hits the children, and spends all day sweeping. Rogelia wants calmantes, tranquilizers, for her mother - perhaps also for herself. She is frantic. I promise to request the calmantes from the doctors. My job today is to go through a "staging" questionnaire with her, to determine how well her mother can function and which stage of the disease she might be in. The questionnaire, constructed by Ira Shoulson, is designed to test how well an individual with Huntington's can perform daily tasks, such as working outside or inside the house, handling money, making decisions about food, washing, and dressing, and how much assistance they might require.
"Jose" saunters up unsteadily. He is a slight, handsome man of about forty-eight with broad, high cheekbones and thick, dark curly hair graying at the temples, a graceful man, smiling and swaying like a friendly drunk. He has the jerky gaze of many people with HD, a difficulty in shifting focus. He talks in sudden bursts. Later in the morning he leads me off to the house of Pablo, whom we meet walking toward us down the street. Pablo is fair-haired, freckled, and flaco, thin. We try to persuade him to come to the clinic. Although his speech is almost unintelligible, he understands our request. He turns abruptly toward his home. We follow him into a house with a large front room, bare except for a table in one corner. Pablo, twisting and writhing, disappears into the back room and returns, somehow managing to carry a chair. He disappears again and hauls out another chair, then another, making clear that he wishes us to sit down. His graciousness amid such dire poverty and notwithstanding his extreme disability suddenly move me to tears. Then Pablo's uncle appears, apparently one of the lucky ones who has escaped the disease. He is a man of about sixty with several gleaming gold teeth and a gentle, resigned, matter-of-fact manner. This uncle has assumed total care of Pablo, whose mother and father are both dead. He obviously feels great sympathy for his nephew. I encourage them both to come to the clinic later in the day. Then Jose and I walk back to the clinic. Jose has nine children. One son died of juvenile Huntington's at the age of nine. Another son (whom we meet later in Laguneta), a beautiful blond sixteen-year-old, is gradually sinking into the weakness and rigidity characteristic of the illness in children and adolescents. Jose tells me firmly, "All my children are normal."
The people here believe that everyone who has a parent with the disease always inherits it from that parent, but only some people actually develop the symptoms. Perhaps it is a way of acknowledging the anxiety and loneliness of being at risk and the worry of constantly wondering when and if you'll get the disease. Being at risk means feeling different from both those who are not at risk and from those with Huntington's. It's an emotional state all its own. The Venezuelans seem to understand this - better, perhaps, than North Americans, who do not tolerate ambiguity well.
