Blood Matters Read online

  Table of Contents

  Title Page

  Table of Contents

  Copyright

  PART 1

  My Mother’s Fatal Flaw

  The Four Mothers of Jews

  The Post-Nazi Era

  PART 2

  Indecision

  A Decision at Any Cost

  The Father of Hereditary Cancers

  The Cruelest Disease

  The Science of Matchmaking

  The Operation

  PART 3

  The Future the Old-Fashioned Way

  Biobabble

  What We Fear Most

  Acknowledgments

  Glossary of Key Terms

  Notes on Sources

  Index

  About the Author

  First Mariner Books edition 2009

  Copyright © 2008 by Masha Gessen

  All rights reserved

  For information about permission to reproduce selections from this book, write to Permissions, Houghton Mifflin Harcourt Publishing Company, 215 Park Avenue South, New York, New York 10003.

  www.hmhbooks.com

  Portions of this book have been published in slightly different form in the following: “Mutations” in Granta, 2004; “A Medical Quest” in Slate, 2004.

  The Library of Congress has cataloged the print edition as follows:

  Gessen, Masha.

  Blood matters: from inherited illness to designer babies, how the world and I found ourselves in the future of the gene/Masha Gessen.—1st ed.

  p. cm.

  Includes bibliographical references and index.

  1. Medical genetics—Social aspects. 2. Human chromosome abnormalities—Diagnosis—Social aspects. 3. BRCA genes. 4. Genetic counseling. I. Title.

  RB155.G475 2008

  616'.042—dc22 2007036751

  ISBN 978-0-15-101362-3

  ISBN 978-0-15-603331-2 (pbk.)

  eISBN 978-0-547-42754-6

  v2.0713

  PART 1

  THE PAST

  Chapter 1

  My Mother’s Fatal Flaw

  I SPENT THE DAY of August 21, 1992, driving to a mountainous desert town whose name, in the scorching heat and fine dust, was a seductive mockery: Palm Springs, California. I had embarked upon the most Californian of endeavors, an editorial retreat for the Los Angeles–based magazine where I worked. I ate dinner with my colleagues at a bland Mexican restaurant. I had two margaritas, talked more than I usually did, and told a story that left me vaguely uneasy, as I always feel when I talk about my mother: I cannot talk about her without telling lies. I do not remember what I said, but it was something complimentary, even prideful, I think, and though I loved my mother and was proud of her, talking of her in that way, with all that had gone wrong between us, was most certainly a lie.

  I woke up at four that morning, in the bedroom of a rental bungalow, with a wave of nausea pushing its way up to my burning throat. I stumbled to the bathroom, drank from the tap and threw cold water on myself, washing my face and head clumsily, then looked at my bloated face in the mirror and wondered how two margaritas could have done this to me. I went back to bed and next opened my eyes at a few minutes before seven, without a trace of a hangover but with a sudden wakefulness I could not fight. With hours to kill before the meetings began, I tried going out for a walk in the desolation of Palm Springs, considered a swim in the kidney-shaped pool, and finally went back inside the bungalow intending to read some magazine submissions. I spread them out on the coffee table and, before starting, picked up the phone and dialed my parents in Boston. I was checking in at least daily back then and knew they would be awake—they were three hours ahead. These considerations were background noise; I had picked up the phone without pausing to think, just getting one of my daily chores out of the way while I had time to kill.

  A strange male voice answered the phone.

  “Papa?” I asked, knowing that it was not.

  “Hold a minute,” the man said nervously, and a moment later my father came on the line.

  My mother was dead. The man answering the phone was a policeman who had come to fill out a report, which, as it turned out, was a necessary part of letting someone die at home.

  My mother had been diagnosed with breast cancer two years earlier. By the following summer, it had already spread to her bones, and then it got to her liver and killed her.

  My mother had last woken up at seven that morning—four o’clock in California, when I had first awakened—and asked for ice cream. Her liver was failing. Her throat must have been burning up. She died a few minutes before ten. That was the moment I had bolted awake for the second time, the bizarre toxic symptoms of three hours earlier mysteriously gone, and my inextricable physical relationship to my mother proven to me for the first time in my conscious life—at the moment hers ended.

  The second time the physical relationship proved itself was on January 28, 2004, at a coffee bar in Cambridge, Massachusetts—an accidental location I shall avoid in the future, much as I have avoided revisiting Palm Springs. I was sitting at a small square table, trying to fix my ailing laptop, when my cell phone rang and a professionally sensitive woman’s voice said, “I am returning your call. The results of your tests have arrived. And there is a change.” She paused. “In the BRCA1 gene, there is deleterious mutation.” She paused. “I’m sorry.”

  BRCA stands for “breast cancer.” BRCA1 and BRCA2 are two genes known to play a role in the development of breast and ovarian cancer. The caller was a genetic counselor informing me that my mother had passed on to me a mutant gene. I was surprised. I was shocked. I should not have been. I had gone to get tested, I had known enough to know that I was a likely candidate for the mutation, but I was convinced that I was negative. Even if my mother had been a carrier—I could not know, because she died before the gene was discovered—I had only a 50 percent chance of having inherited it. That night in Palm Springs had taught me nothing: I was certain I was immune to my mother’s physical legacy.

  Something had gone wrong between me and my mother, something so profound and so old that I find it difficult to describe. There was no tragic fight, no horrible misunderstanding. For as long as I can remember, we simply felt like strangers, not particularly intimate ones except by virtue of circumstance: We happened to live together. Nothing between us was ever unconditional, not even our physical proximity. I left home at fifteen.

  My mother died before we had had much chance to claim our tiny islands of common ground: before I wrote anything she—also a writer and a translator—would have enjoyed reading, before I translated my first book, using what I had learned from watching her work, and before I too became a mother. When I started writing professionally, she said proudly, “My genes have won out.” I remember being surprised, and silently dissenting: I did not doubt my mother’s gifts, but I never believed they were also mine. I counted on more—and less. My mother was a more talented writer, a more diligent reader, and a more enterprising student. She was also handicapped by a desperate fear of people, and that fear could turn routine communication into a feat of heroism. She died at forty-nine, still gifted but not accomplished: Even if by external measure she could be considered successful, she felt anonymous and overlooked. I think that long-ago conversation with my colleagues in Palm Springs had in fact concerned my mother’s career achievements, and this was why it had left me so uneasy. I knew the fear too, but of necessity I learned to get out and make my way among people early, and I had always thought that this was why I had done well with barely half of her gifts. I had assumed I was simply better at living than she had been. And even though, like all daughters of mothers who die young, I had a difficult time visualizing myself past a certain age, I had always, without really think
ing about it, assumed that I would make better of what I had, and for longer, because I am not as afraid. I thought my gifts were my own, making me free from her legacy altogether. Then I found out that I got everything from her, including the flaw that killed her.

  I learned the basics of the story of my flaw. I carry a genetic mutation that kills women early—earlier and earlier with each generation—through breast and ovarian cancer. “My” gene was identified about two years after my mother died and ten years before I tested positive for the mutation. It seems to be a gene that works as a tumor suppressor—unless it is damaged, as it was in my mother’s case and is in mine. The hereditary roulette works as follows. For most people, the genome consists of one pair of sex chromosomes (XX in women and XY in men) and twenty-two pairs of chromosomes called autosomal, plus mitochondrial DNA, which is something of a separate story. The autosomal chromosomes contain two copies of every gene, one inherited from the mother and one from the father. The BRCA1 gene resides on chromosome 17. Those born with a mutation have one normal copy and one damaged one. A child born to a parent who has a mutation has a 50 percent chance of inheriting it. If a female child inherits a BRCA1 mutation, her lifetime risk of breast cancer may be as high as 85 percent, and the risk of ovarian cancer may go up to more than 50 percent. For some reason, probably having to do with the environment or diet or lifestyle, these days women with the mutation are getting the cancers at an earlier age than their mothers’ and grandmothers’ generations.

  If a fetus inherits two bad copies of a BRCA gene—one from each parent—it will not be viable. A girl baby who is born with only one defective copy of the gene will not develop cancer as long as the other copy is functioning. But when the “good” copy also suffers a mutation—as, it seems, will happen in most cases—cancer will develop, and the disease may be more aggressive than in people without such mutations. A male child with the mutation may also eventually develop breast cancer, but this happens far less frequently. The risk of cancer goes up steadily with age: about 20 percent by age forty, 40 percent by age fifty. Rarely do women under thirty develop the cancer, and the chances of cancer only pass the 50 percent mark at around the age of fifty-five. So throughout human history, a woman would most likely become sick after she had given birth to and raised her children. For modern women, particularly western Jewish professional ones who have children later, the mutation may bring cancer before the child-rearing years are past.

  Mathematically, women are just as likely to inherit this breast-and-ovarian mutation from their fathers, but they are not as likely to suspect that they have it unless their mothers have been stricken. Because this sort of genetic testing is not routine (although Israeli geneticists are debating the possibility of population-based screening for these mutations), women who discover they carry the mutation often come from matrimonial cancer dynasties: Great-grandmothers, grandmothers, mothers, and sisters in every generation have had the cancers. These women are terrified of having daughters. Some of these women hate their mothers.

  That these mutations were discovered first among Jewish women is probably largely, though not entirely, an accident. Jews are an obvious choice for the study of genetics: They make up compact populations certain to share many genetic traits. So do Icelanders, Scandinavians, and a large number of other ethnic groups, but they are not as frequently found near large medical-research centers. It may also be that Jewish medical researchers have chosen to study familiar communities. Finally, the position mainstream Judaism takes on most key issues of the genetic age has allowed this kind of research—including research on prenatal and preimplantation testing, gene therapy, and stem-cell research—to flourish in Israel.

  My generation, making radical and underinformed decisions, may be lucky to be the guinea pigs—or not. In the past ten years a few thousand mostly Jewish, mostly midlife women, mostly in the United States and Israel, have gained the kind of knowledge humans are unfamiliar with having. I had my fortune told by a genetic counselor at a high-tech medical center in Boston.

  ***

  My daughter was born nine years after my mother died. I gave her my mother’s name: Yolka (in my daughter’s case, a diminutive for Yael). She fashioned it into a story of life. “You know,” I heard her say at the age of three. “Before, I used to be a small baby. Then I was born. Now I have grown and become a girl. Before, I used to be Grandmother Yolka, but I died.”

  The calm simplicity of that story pleased me, but I worried now about what I had passed on. My overconfidence about my own hereditary fortune affected my daughter too: When I gave her my mother’s name, I was certain she would take only the best. Women who know they have a cancer-gene mutation are, I have discovered, rarely so cavalier. I have talked to young women who would rather adopt a child with an entirely unknown health history than risk passing on the possibility of breast cancer. I have talked to older women who are wracked with guilt over having passed on the mutation. I have talked to a woman who hates her eighty-four-year-old mother for being cancer-free while she and all her sisters, who inherited the mutation, have developed cancer. They focused their anger on the mother’s refusal to be tested for the mutation—as though it would have made a difference—and when she finally relented, and tested positive, they rejoiced in the chance to lay blame.

  With a disease as unpredictable as cancer, the opportunity to blame an actual person is an unexpected temptation. Sometimes mutations can be traced through generations, based on the history told by death certificates, obituaries, and fears passed on from mother to daughter. I have talked to women who have seen their mothers, grandmothers, aunts, sisters, and cousins struggle with cancer and succumb in a pattern that becomes familiar. When I learned about my own mutation, I knew only that it went back to my mother, who got it from her father. (He was killed in World War II at the age of twenty-two, but his sister later developed ovarian cancer, pinpointing their branch of the family as the culprit.) Then the trail was lost, as it often is, since in chains of mutation carriers generations seldom overlap by much.

  The first time I went to a gathering of women who carry the breast-and-ovarian-cancer mutation, I found myself looking hard into their faces, searching for familiar features. Unlike, say, people with HIV or multiple sclerosis, we share more than a similar condition, parallel concerns, and identical hopes: We have common blood. The mutation I carry is called a “founder mutation,” which means it goes back to a single event: one person who was born with a mutant gene and passed it on to his or her offspring, who passed it on and on. The fact that my particular mutation is found among both Ashkenazi and, albeit less often, Sephardic Jews means the “founder” was a very distant ancestor, someone who lived long before the split into Ashkenazim and Sephardim.

  That is why one can refer to these mutations as “Jewish” without incurring the wrath of the politically correct, as long as they can make the leap—especially difficult for Americans—to thinking of Jewishness as an ethnicity rather than a religion. In February 2006 I went to the first-ever public gathering of women who carry BRCA mutations, a conference at a cancer center in Florida. The conference included networking sessions, for which sign-up sheets were posted on a bulletin board. One of the sign-up sheets was titled “Latino mutations.” No one signed up. After a while the woman who had posted it crossed out the heading and replaced it with “Ashkenazi mutations”—and got better results. The same mutation that I carry is found, with relative frequency, among Catholics in the American Southwest. Not only is it the same mutation, but the general genetic neighborhood in which it is located looks similar, pointing to the probability of a common “founder.” The Hispanic carriers of this mutation may be what have come to be known as “crypto-Jews”—the descendants of Spanish Jews who were forcibly converted to Catholicism before leaving Spain and eventually making their way to the New World. The woman who created that sign-up sheet told me she believed she was probably of Jewish ancestry herself—a belief she had acquired since testing positive for the
mutation. The cutting-edge science of the twenty-first century has a way of turning one’s thinking about blood, religion, and disease positively medieval.

  ***

  When I learned of my mutation in January 2004, I was thirty-seven, my daughter was two, and her brother—who is adopted—was six and a half. I had been thinking of having another child. My cumulative risk of breast cancer at that moment was roughly 14 percent, to be adjusted up to 16 the following year and 18 the year after that. I was, in the absurd argot of the trade, a “previvor”: not yet diagnosed with cancer but with a high risk of getting it. I went to see a genetic counselor.

  Those who learn that they carry a mutation like mine are immediately admitted to the cancer caste. I found myself carrying a cancer center’s patient card, walking past a wig-and-prosthesis shop on my way to see my doctors, and retracing my mother’s steps down the hospital corridors—still hoping that in my version, the same genes would add up to a better life, and a longer one.

  The genetic counselor, her head permanently cocked to one side in a show of sympathy, suggested there was only one way out of the cancer ward. She advised me to cut out my ovaries. She said I might also consider removing my breasts. I was still using them to feed and comfort my daughter then. Breast milk had turned out to be the magic potion of motherhood: It nourished my daughter during her frequent illnesses when she was a baby, and it could cure frustration, anxiety, or a stubbed toe once she became a toddler.

  I spent weeks reading medical studies and doing frantic arithmetic, careening from one option to another. In the end I decided to proceed slowly. I weaned my daughter. I managed to convince her that big girls do not drink from the breast. It took a couple of weeks and then she took to holding my breasts—before she went to sleep, when she woke up, or for comfort when she hurt herself or felt insulted. Every time I cuddled her, I worried: How could I get rid of them when she needed them? The argument that ought to have trumped them all—that any trauma was worth it if it meant having me around—did not convince me. What worried me, gnawed at me to the point where I felt a stabbing pain in my chest—my breast—was the fear of losing the physical connection with my daughter that I never remembered having with my mother. It turned out it had been there all along, as sure as the fact that I bolted awake the moment she died three thousand miles away, but I had never felt it. Touching her did not give me comfort.