Home Opinions The Schrodinger’s cat of genetic mutation

The Schrodinger’s cat of genetic mutation

by Kelsey Litwin March 31, 2015
The Schrodinger’s cat of genetic mutation

One woman’s family struggles with the BRCA1 mutation gene

Angelina Jolie announced that she had undergone a procedure to have her ovaries and fallopian tubes removed in an essay published in The New York Times on March 24. This report hits incredibly close to home as Jolie and I are in the same boat—minus the fame, fortune and six kids.

My mother was diagnosed with stage 2B breast cancer in 1998, when I was three years old. Her cancer was fast-growing, aggressive and came with many nasty side effects, including an allergic reaction to a chemotherapy cocktail so severe that it mimicked a heart attack. She was 31 years old: incredibly young for breast cancer. According to the American Cancer Society, about two thirds of diagnoses are found in women above the age of 55. My mom was an outlier.

Fortunately, after many treatments—including a doutble mastectomy—my mother was in remission and I am so proud to say that 18 years later she is still cancer free. However, this is far from where her story ends.

While she was being treated, my mom was approached by Dr. William Foulkes, who was researching the BRCA1 genetic mutation. This is the very same genetic mutation that encouraged Jolie to undergo a preventive double mastectomy that she wrote about for The New York Times two years ago, and her more recent laparoscopic bilateral salpingo-oophorectomy.

The risk of breast cancer among BRCA1 carriers increases to 80 per cent over their lifetime, compared to 12.5 per cent for non-carriers, according to the National Cancer Institute. The risk of ovarian cancer increases to 50 per cent and only gets higher with a diagnosis of breast cancer. These increased risks encourage many women to seek the same preventative measures as Jolie.

Foulkes proposed that my mom be tested for the gene, as she fit the criteria for being a carrier. The American Cancer Society says that “breast cancers linked to these mutations occur more often in younger women … and are more common in Jewish people of Ashkenazi (Eastern Europe) origin.” That’s my mom in a nutshell.

I think you can guess where this is going.

Graphic by Marie-Pier LaRose.

When my mom found out she was a carrier of the BRCA1 gene, she, like all carriers, was faced with many decisions to make about her body. Fortunately, in Montreal, we have the resources available to us to make these decisions without having to go into debt. With two young children at home and such a high risk of developing cancer again—70 per cent of another breast cancer and 90 per cent of ovarian cancer—my mom, like Jolie, decided to have her ovaries and fallopian tubes removed.

“When I heard the stats, I felt I had no choice but to do the surgeries because I felt like I had time bombs in my body,” my mom told me during one of our discussions. To this day, she credits this surgery for preventing a relapse and saving her life.

My mom’s treatment was never hidden while I was growing up. I remember holidays spent in her hospital room. I remember dragging a wig across the house, making sure it gathered every last dust bunny, demanding that she put it on. I remember watching Power Rangers while she worked with a nurse at home. However, her BRCA1 carrier status was never discussed.

Two years ago, when Angelina Jolie first wrote about her carrier status, was when my mother and I had our first conversation about the gene and my disposition to it. A prominent figure speaking out created an environment in which she felt safe to open up and introduce me to what I may face. We were also approaching the 10 year mark, making this discussion even more necessary.

“My doctors indicated I should have preventive surgery about a decade before the earliest onset of cancer in my female relatives,” wrote Jolie in her article. This is not an uncommon recommendation. It is often advised that those with the BRCA1 gene should begin regular screenings within that time frame. My mom was diagnosed at 31, so I would need to begin at 21.

Since that discussion, I have begun seeing a genetic counselor—the very same who saw my mom all those years ago. Unlike Jolie, though, I’ve decided to hold off on finding out whether or not I am a carrier.

I am a schrodinger’s cat of genetic mutation: I both have the gene and do not have the gene. There would be very few screening or prevention options available to me at such a young age, regardless of whether I test positive or not. For now, resting in limbo is as close to peace of mind as I can get.

Nevertheless, I applaud what Jolie has done and I owe her my thanks. Her activism and outspokenness encourages dialogue and raises much needed awareness about the world of cancer prevention. By no means should every woman, with the BRCA1 gene or not, go schedule such invasive procedures. It is important to understand one’s own risk level and assess options from there.

Same goes for having genetic testing in the first place. Critics have gone after Jolie saying that “the Angelina effect” has encouraged many women, including those who are not disposed to the gene, to seek testing. According to the Toronto Sun, testing has nearly doubled at one of New York’s largest medical centres since Jolie’s first article.

Others criticize Jolie for speaking from a privileged position. In the United States, testing can run up to $3,500. For some women, this is simply not doable.

However, the medical community is thanking her. “A Nobel laureate could give the same message, and it might reach only a handful of people,” said David Fishman, director of the Mount Sinai Ovarian Cancer Risk Assessment Program in New York City in an interview with the Toronto Sun. “Angelina is using her celebrity in a heroic way, and she’s going to reach millions of people worldwide.”

All the doctors whom I’ve recently spoken to in regards to my own status, including the doctor who first approached my mom about being tested while I was still a toddler, have helped me understand that the best way to treat cancer is to prevent it. While there is no way to 100 per cent eradicate one’s risk of developing the disease, you can lower it.

Jolie said it best: “it is not easy to make these decisions. But it is possible to take control and tackle head-on any health issue. You can seek advice, learn about the options and make choices that are right for you. Knowledge is power.”

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