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What should I do?

What should I do?  I'm a 37-year-old mother of two.  My mom and her aunt died of cancer.  I have the BRCA1 gene that says I'll probably get it too.  My doctor thinks I should cut off my breasts or remove my ovaries.
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Posted Sunday, June 13, 2004, at 4:58 AM PT -
From: Masha Gessen
Subject: In Which I Find Out That I Am Genetically Mutant

"If you are anything like me," my doctor says, "you are looking at your kids and thinking you just want to be around for their college graduation." My doctor and I both are Ashkenazi Jewish women in midlife, each with two young children, so there is the basis for comparison. But I've always figured on a long life with an extended middle part. I thought I might choose to have a third child some years down the road, when these two are in school. There didn't seem to be any reason I shouldn't: I come from good stock; my grandmothers are still going strong in their 80s, my great-grandparents lived into their 90s, and generations of women in my family have had babies well into their 40s. But somewhere in this terrific soup is a single genetic mutation that caused my mother and her aunt to die of cancer in middle age. As it turns out, I have it too--literally a fatal flaw that means I just might end up on the wrong side of the law of averages. That is, I may not make it to midlife at all.

In fact, the law of averages is not about mathematical middles but about probability, which, it holds, will determine everything in the long run. That's the bad news for me. My flaw is located in the 39th amino acid position of a protein called BRCA1, which stands for "Breast Cancer 1." There is also another known mutation that causes breast and ovarian cancer that is sometimes found in this gene, and one found in BRCA2, another gene. All three of these are relatively common among Ashkenazi Jews; about 5 percent may have one. In numerical terms, "my" mutation means, roughly, that every decade of my life, starting at age 30, increases my risk of breast cancer by 20 percent. So, one in five women with the BRCA1 mutation develops breast cancer by the age of 40; two in five by the age of 50; three in five by 60; and so on. But the estimates aren't as precise as they sound: The literature states that somewhere between 55 percent and 87 percent of women with a BRCA1 mutation will develop breast cancer. Which raises two questions: Are the missing 13 percent those who would have developed breast cancer if something else hadn't killed them first? Or is the lower estimate correct, which would mean the odds are more like 50/50, odds I could maybe live with?

Not that I have much of a choice about living with it. But I can hold some sway over the probabilities. The standard recommendation for a woman in my situation in the United States is to have a preventive oophorectomy—which means having her ovaries removed—"when she has completed child bearing," but preferably no later than at age 35. The Canadians, generally less scalpel-happy recommend the surgery at the age of 40. There are two reasons for the recommendation. One is that early surgical menopause, induced when the ovaries are removed, reduces the risk of breast cancer by about half (which means it's still a lot higher than in the general population). Two, both BRCA1 and BRCA2 mutations also mean a vastly increased risk of ovarian cancer—and ovarian cancer, unlike breast cancer, is virtually never caught early. There are ultrasounds and there is a blood test, but the basic truth is that when one of these comes back positive, the cancer has probably already spread beyond the ovaries. My great-aunt died of ovarian cancer three days before her 53rd birthday. My mother died of breast cancer a week before her 50th birthday. I'm 37.

Another way to prevent breast cancer—an obvious one—is to have a preventive mastectomy. There is a maddening disconnect between the cutting-edge science of oncogenetics and the barbaric state-of-the-art response to the discovery of a mutation: Hack everything off before it goes bad. The counselors at the Cancer Risk & Prevention Department of Adult Oncology at the Dana-Farber Cancer Institute (the name goes on, actually, but you get the basic coordinates) drive a hard bargain. When I raise objections to opting for early surgical menopause—the unpleasant effects of which include increased risk of heart disease, high blood pressure, osteoporosis, not to mention cognitive problems and depression (as well as inelastic skin and weight gain, which seem downright frivolous to mention)—Judy Garber, the director, who personally counsels women like me, says, "The payoff is keeping you here." I can accept that kind of singular vision as a characteristic of a true scientist, but, at that moment, it also occurred to me that the best way to prevent cancer of the breasts and the ovaries would be to shoot myself tomorrow: That way, I could make sure I died of something other than cancer.

It's not that I'm not terrified of cancer. Most women are, even those who didn't watch it kill their mother. But I also can't fashion an easy attitude toward the prospect of heart attacks, strokes, and broken hips. And I have a 2-and-a-half-year-old, so I have a recent memory of what it is like to be virtually estrogen-free, which is the often infuriating state women find themselves in immediately following a pregnancy. It made me so stupid that, when faced with a decision, I would mentally ask myself what Smart Masha would do in the situation. Writing was frequently torturous, and the results pathetic. I feel like I have only recently regained my faculties, and now I am being advised to surrender them again.

The counselors, and my own doctor, reassure me that hormone-replacement therapy, which is thought not to increase cancer risk significantly in women who have no ovaries, takes care of most of the horrible effects of early and sudden menopause. Except it doesn't prevent heart attacks. Or osteoporosis. It does take care of sleep deprivation, which seems to account for much of the depression. "But word recall is never recovered," my doctor says matter-of-factly. Great. In one magic moment of my choice I can go from a healthy still fairly young writer to a prematurely aging woman who has trouble managing her vocabulary.

But surely my excellent health has to be a mitigating factor? I believe that, while happy and healthy people get cancer, miserable and unfit people get cancer more often. My mother was overweight and plagued by large and small health problems all her life, a life she had great difficulty trying to enjoy. I go to the gym every weekday, have never weighed more than I should—hell, I'm one of those odd women who like not only their lives, their kids, and their partner, but even their body. Should the body not return the favor? Don't my great health and excellent attitude get me any probability discounts? "The thing about breast cancer," says my doctor, "is that it happens to otherwise healthy women. And among doctors, there is actually this belief that it's the nice people with the wonderful friends and families who have the most aggressive disease."

I like my doctor a lot, partly for her alarmism. She also explicitly allows me to ask the question that was at the tip of my tongue: "What would you do?" She says she might have another child right away. Then she'd probably have an oophorectomy. She'd consider a mastectomy, but the thought weirds her out—not because she is worried about finding a mate (she has one) but because she has used her breasts to nurse her two children and can't imagine not breastfeeding the third.

I'd actually thought that if I tested positive I might want to get pregnant again right away. As it turns out, I don't: I feel that if I have only a couple of pre-menopausal years left, I don't want to go missing, as one does in pregnancy. Which just leaves the question of what I will do, and when. I decided to look for the answer right here, in Cambridge, Mass., the geographic location of the genetic frontier: the home of the Human Genome Project is less than two miles from my house, as are a slew of biotech companies working on things like fixing tragic genetic misfires like mine. Perhaps more important, I feel like there are people right here at Harvard, where I am spending a year as a journalism fellow, who know things about people—the sorts of things I could use to guide me to a decision. So, I have set out, over the next week, to systematically pick their brains. I plan to come to a decision by the end of the week—and this series of dispatches.

Masha Gessen is a writer living in Moscow.

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