Breast Cancer Gene Testing: Do I Really Want to Know?

For as long as I can remember, I have been convinced I was going to die the same hideous way my mother did. Metastatic, terminal breast cancer is not pretty. By the time she died, my 45-year-old mother was blind in one eye, bald, weighed 80 pounds, and was unable to get out of bed.

Her wheelchair was so tiny my 16-year-old, size-4 bum couldn't fit.

It's a disease far more horrible than the pretty pink ribbons would have us believe. And so every October, when we roll out the pink ribbons and walk for Susan G. Komen and raise money for breast cancer research, some of us who have seen the other side cringe a little.

Jessica Queller, who wrote the book Pretty Is What Changes about getting a preventative mastectomy after losing her mother, said people are divided into two camps when they think about breast cancer: those who see hope in a breast cancer diagnosis and those who see death.

I see death.


I was 16 when my mother died and still convinced I was invincible. I've hated my birthday ever since. Each candle on the cake was a reminder of how much closer I was coming to the year she was first diagnosed -- 40.

We all like to believe we can do it differently than our parents did, whether it's the way they forced us to sit at the table until we ate all of our peas or the way they died without saying goodbye. We'd like to believe we can escape their fate, but as we have children, many of us find ourselves saying the same things our parents did -- "Because I said so" and "You are driving me crazy!"

We all become our mother a little. Even those of us who barely knew ours.

For me, becoming my mother meant also facing my mortality. Of course, I had been facing it for years. My timeline was short and I acted accordingly: Marrying young and having two children by 30, building a rewarding career by 30, buying a house and generally living like people more than a decade older than me for most of my life.

The day I married my husband, he slipped my wedding dress off me and looked at me bare-chested.

"My hot wife, ladies and gentlemen," he said with a smile while I wondered what he would think when my chest was just two jagged scars. Most of the time I kept those thoughts to myself.

From the day I found out about BRCA testing -- the testing that looks for mutations on those two genes we all have -- I knew I would do it. I learned my children's sex in utero, I keep a stock of bottled water. I'm one who wants to know, a planner.

Though the BRCA genes aren't responsible for every case of breast cancer, they're responsible for many, and those who have the mutation tend to get the cancer diagnosis young -- like my mother. And since both my mother and grandmother had breast cancer, I'm considered "high risk."

The way I saw my life: marriage, babies, career, genetic testing, prophylactic removal of my breasts and ovaries with reconstruction, everything else.

There was no doubt of what I would do and I was sure I would have the gene. After all, my face is almost identical to my mother's. People say when I walk into a room that they feel like they're seeing a ghost. I got other things from her, too: my thick hair; my DD chest with which I have a love-hate relationship; my facial expressions; my sense of humor. When I miss my mother, I don't have to look much farther than the bathroom mirror to have her again.

Which is why I was shocked that I didn't inherit the gene.

Two weeks ago, I went into the hospital, I chatted for two hours with a genetic counselor, and I gave a vial of blood. Last week, the counselor called me back:

"It is completely negative," she told me.

When I tell my friends, they're all thrilled, but I know better. I know that because neither my mother nor my grandmother was tested that we don't know whether they had the gene. If they did and I'm negative, then my chances of getting cancer are the same as the general population (10 percent), but as long as my grandmother is untested, my chances are 23 percent and I'm still "high risk."

I also feel disappointed on some spiritual level. I'm not a religious person and I don't believe my mother died for a reason. But I do believe in science and I was hoping maybe science would tell me why I had to lose my mom. A faulty gene could explain what the Bible and my religious friends could not.

No such luck. And the fact is: It's good news. I didn't pass this faulty gene on to my daughter and maybe my mother's cancer was environmental. There is hope now where there used to be none.

My grandmother, who is 86, is talking to her oncologist. She's considering getting gene tested as well. To explain her reasoning for refusing is to open a can of worms about my mother's side of the family that I'm unwilling to write about yet. But suffice it to say that they haven't factored into my decision to test.

Some people want to know. Some don't.

But I do. I saw what cancer did to my mother and the ripple effects it had on her daughters. My sister and I miss our mother every day. My children will never know her. I'm certain that if she were given the option to "know" her destiny, knowing what we all know now, she would have taken it.

I don't know my destiny. I'm still high risk and I could get hit by a bus tomorrow. But I do know that the gene mutation I believed I had for so many years is not in my body. So I'm grateful. Grateful for my health right now and grateful for the hope this little test has given me.

Maybe I will get the chance to see my children grow up. It's a chance I'm certain my mother would have wanted to have, too.

Would you want to know?

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