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January 3, 2001

In the Twilight: Life in the Margins Between Sick and Well

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JAMA. 2001;285(1):92. doi:10.1001/jama.285.1.92-JMS0103-4-1

My mother learned she had breast cancer in her mid-30s. When she was 39, she was diagnosed with a second primary cancer, this time of ovarian origin. Her dying was protracted and particularly horrific. She was admitted to the hospital late one spring because of "metastatic carcinoma, known recurrent cerebral metastasis, progressive weakness, and inability to void." As the attending physician wrote in her discharge summary, "In view of the untreatability of the situation, she was approached for her comfort only, given pain medication as required for relief of discomfort, and died quietly."

I knew long before my first semester course in medical genetics that my family history and my Jewish background did not bode well for my own risk of acquiring the same diseases that killed my mother. In a vacation break during my first year of medical school, I sat in an office on the 6th floor of a major city hospital and decided that I needed to consider knowing for sure. After several sessions with a genetic counselor, I wrote a check, watched as a nurse drew 2 tubes of blood, and went home to wait. Four weeks later, in the same office, I held my husband's hand as the geneticist sat down with us and said succinctly: "I'm sorry, but your test showed a mutation in the BRCA1 gene."

Language describes possibility; medical language often implies distinct outcomes. Whole lives are altered by a few words coming from the person with the stethoscope and the white coat. Cancer. Heart disease. AIDS. These are words and more than words. They are also metaphors that suggest distinct futures. Some of these futures are determined on the basis of evidence: women with my specific mutation—and with a family history as strong as my own (my mother was not the only member of her family to be diagnosed with these cancers)—are estimated to have a lifetime risk of breast cancer that approaches 85%; the risk for ovarian cancer nears 44% over the lifetime. Other notions of futures are determined by one's subjective experience. Breast and ovarian cancer have a particular meaning for me because of how the diseases affected my mother, and because of the tremendous suffering I associate with them. I fear a specific type of dying.

What does one do when one is a healthy medical student, enjoying classes, in a great relationship, with beloved friends and a profession that brings great happiness—and suddenly one learns that one is carrying a genetic mutation that is associated with a greatly increased cancer risk? For a long time after I learned my status, I grieved for the life I once thought I had. I kept trying to remind myself I was not actually sick, although the line between health and illness certainly had become blurred. It is true that I am perfectly healthy, yet 2 weeks after learning my status I had my own oncologist and breast surgeon, underwent my first mammogram and breast magnetic resonance scan, and had my first biannual transvaginal ultrasound. I was weighing the options of having children (My doctors: "If you want them, you need to have them soon"), of prophylactic surgery ("Your best option at this point is prophylactic bilateral mastectomies and oophorectomies by age 34"), and worrying about the uncertainty ahead ("Surgery will only decrease your inherited risk by 90% for breast cancer, and 50% for ovarian cancer, because women with your mutation are also prone to primary peritoneal carcinoma after oophorectomy"). It was time to reorder my priorities. Quickly approaching the end of my 20s, I made the choice to postpone my medical training to start a family. I was suddenly part of the world beyond the white coat—the world of most people, who can no longer look at disease as a professional challenge, but as a potential path for their own future. Between the sick and the well is the uncertain, and that is where I now found myself.

Sometimes I am filled with a deep longing for the time before I knew my status, when the possibilities ahead of me were not circumscribed by the realities of my situation. I do not have cancer. I am a healthy young woman. Yet I can no longer make the same choices I might have made when I lived under the illusion that I was young enough, or healthy enough, to be untouchable. In truth, all of us live in the twilight; none are promised a life of infinite length. In spite of the order scientific medicine promises us, there are no real promises to be made—there is only life as it is now, with no certainties about how it will be tomorrow. This is what it is like to live with a genetic predisposition, and I suspect that this is also what life is like from the vantage of one with a serious illness; but most importantly, this is actually what life is like for us all. From the moment we are born we are on a path toward the eventual end of our physical presence here on earth. And none of us—not the woman with cancer, nor her daughter with the increased risk, not the medical students in the prime of health who have no looking glass into what the future holds—can escape that. We can only be emboldened by our part in creating what might become.

Author's actual name withheld at her request.—ED.
This article was corrected on May 30, 2003.