The Burden of Knowing

For the right fee, a Cambridge firm called Knome will unravel all the secrets hiding in your genes. But what happens when those secrets include a higher risk of getting cancer? Or of contracting a crippling disease like Alzheimer's? Would you be able to handle that information and the terrible choices it forces? I wasn't.

A few years after I dropped out of the Dana-Farber study, I moved to Peru to be a freelance foreign correspondent. Not long after that, I found myself thinking about testing again. It was 2000, I was 29 years old, and though I still held philosophical reservations about testing, I was too sick not to consider it.

The stomach pains and diarrhea were awful. My sprints to the bathroom had gone on for too long—two years—to be a case of traveler’s sickness. Yet no lab could find any microscopic stowaways living in my system. A homeopath suggested I stop taking birth control, thinking it could be contributing to my stomach problems. But a side effect of the pill was a reduced chance of developing ovarian cancer. I consulted my gynecologist, who thought that if I went ahead with the gene test I had backed out of in DC, and it turned out negative, I could safely stop taking the pill.

And so one day a doctor drew my blood and sent it off to be analyzed. I was, as before, not married and not thinking about kids, but I was now in a serious relationship. My boyfriend and I were about to move together to Guatemala, where I would receive the lab results by e-mail. I’m an optimist by nature, and I truly believed I hadn’t inherited the mutation. I thought that because my mother died of cancer when I was a little girl, I had fulfilled a lifetime cancer-suffering quota.

I’d almost forgotten about the test when, weeks later, I saw the e-mail from my doctor titled “Results.” I clicked it open: I’d tested positive. I remember thrusting my chair away from the desk, gasping. I felt as if I were falling.

A few weeks later I traveled back to the U.S. to see a genetic counselor near my parents’ home in Connecticut. The counselor told me the story of a pair of 20-year-old twins whose mother encouraged them to test for the gene. When they tested positive, their mom suggested they each get pregnant, immediately, even though neither was married or in love. They both had babies, then had their ovaries removed. It was after the counselor relayed all of this that she said it might be prudent to have my own ovaries removed soon, and certainly before the age of 35.

But I still thought it was crazy to do that when you still wanted to have children. Or to have a kid just to have one, with no father in the picture and little future for yourself. I thought there was a really fine line between avoiding death and ruining your life.

So my boyfriend and I got married when we were ready, in 2003. We got pregnant in late 2004. Soon after, I won a journalism fellowship, and he was accepted to a master’s program at Brandeis. We moved to the Boston area when I was seven months pregnant, and in August 2005, Micaela was born. We talked about having another child, perhaps in another two years. Knowing the risk I was taking, after that second child I would close up shop, so to speak. Just having the plan in place made me feel safer.


I was 13 weeks into my second pregnancy and weeks shy of my 36th birthday when I felt it. I was in bed, my husband asleep beside me. My right arm was draped over my chest, the fingers of that hand resting lightly on the slope between the breast and rib cage. Without even really thinking about it, I started to press my fingers into my breast. There it was: a hard, knobby little thing. I checked the other side and didn’t feel anything similar. I met with my midwife the next day. She thought it was likely dried milk from having recently weaned my daughter. But she suggested I see a breast surgeon, just in case.

The next afternoon, the surgeon stuck a fine needle into the lump and extracted some cells, which went to the hospital’s lab for a rapid assessment. In the meantime, the doctor sent me down the hall for an ultrasound while she awaited word on the biopsy. The radiologist told me the same thing as my midwife, that she thought the lump was related to breastfeeding, but performed a complete scan of both breasts and armpits to be safe.

While I waited for all these results, I read a magazine, worried only about being late for dinner. Then the surgeon came into the waiting room, sat herself on the couch beside me, and informed me I had cancer. She took me to meet with another, more senior surgeon. He told me I could go through chemotherapy while pregnant, but it would be a lot “simpler” if I terminated the pregnancy.

In the days that followed, instead of going to parties for my husband’s master’s graduation, the two of us walked around our Belmont neighborhood and moped about our house, trying to keep our sobs from Mica, who was now nearly two years old. We talked about terminating a wanted pregnancy. We talked about what my husband would do if I were to die, and whether it would be better for him to be left with one or two children.

And somehow, in addition to all I was feeling—the desperate, breath-stealing fear, the profound sadness—I also felt guilty. Could I have avoided this? I’d chosen to live this way, flouting my genes and the risks they represented. But was that reckless? People close to me pointed out that perhaps I should have seen it all coming. Maybe I was the crazy one all along.

Word of my diagnosis spread quickly among family members. Some female relatives ran out and got tested for the BRCA1 mutation. One found out she was positive. Like me, she had a mother who’d passed away when she was younger. The news terrified her. She was married but didn’t have children; she told me she and her husband didn’t think they wanted any. After hours spent with a genetic counselor and much thought, she decided she would undergo a prophylactic double mastectomy and—like nearly 70 percent of American women who test positive for a BRCA mutation—elect to have her ovaries removed. She would become, in the parlance, a “previvor.” She was 27 years old.

I respected her decision and didn’t want to try to change her mind. So I didn’t say much. But what I wished I’d said was this:

I didn’t think I wanted children at 27, either. But now that I’ve become a mother, it’s the achievement that most shapes my identity. And somehow, having my own child—my own flesh and blood, and, yes, some of my genes—this has brought my mother back to me and helped reclaim parts of my own shattered childhood.

Perhaps I didn’t tell my relative any of this because I didn’t think I was in a position to give advice. After all, I was the one who took the risk and got cancer; mine was the example she was so desperately trying to avoid. Afterward, she called once in a while to discuss things. “When I got sick…,” she said one day last summer, before telling me a story. I can’t remember the rest of what she said; what has stayed was that word, “sick.” She was never sick. She had a mutation, not an illness. The only thing that happened is she found out about it.


My husband and I decided to have the baby. I went through four cycles of chemotherapy while pregnant, and Eliana was born healthy and with a full head of hair in October 2007. She smiles approximately 90 percent of the time. It has been over a year since I was diagnosed; the chances are quite low that the cancer will at some point reappear in terminal form elsewhere in my body. But with breast cancer, that chance is never zero.

In one of my last conversations with George Church, I shared my story. When I told him I had originally resisted testing, he told me that he understood that this information could change people’s lives in “subtle and unpredictable ways” and that it’s not an easy decision to make. When I told him I had later tested positive and decided not to have surgeries, or rush to have kids, he said some people are prepared to take more risks in life than others, adding, “There could be a genetic component to that, too.” When I told him I had developed cancer, he said he was “very, very sorry.”

People make decisions, Church said, and live with the consequences. But those consequences become our lives, and we end up becoming the decisions we make. We can never know what we would be like had we chosen differently. We can only imagine. Sometimes even that is difficult to do.

My relative is convinced that if she hadn’t had her surgeries, she definitely would have gotten cancer. I tell myself that if I had tested earlier in life, I might not have had my older daughter, Micaela. And that if I had found the lump earlier, I would not have had Eliana. George Church tells himself his story, in which his technology is used only for good, where there is always something to be gained, and never lost, from more information about our genes, and where if science can do something, it should. We all believe whatever it is that convinces us we’ve done the right thing. It’s simply in our nature.