Tuesday, September 27, 2016

May The Odds Be Ever In Your Favor, Or, My Adventures In BRCA 1 & 2 Testing

When I was first diagnosed with early stage invasive breast cancer, I was 29 and it was 1994. I was not married, I was not in a relationship, I had not had any children… and, nobody in my family had ever had cancer.

A few years after I had completed surgery (lumpectomy and removal of about 20 lymph nodes from under my arm), radiation and chemotherapy, my oncologist was urging me to get what was then a very new kind of test: a blood draw to see whether I had the BRCA 1 and 2 Genetic Mutations.

When she first told me about the test for the two mutations and recommended I take it, I did what I always do. I researched the the ins and outs of it, beginning with an in-depth conversation with her: pros, cons, knowns, unknowns… and I spent much, much, much time reading, researching and pondering it so as to have a 360 degree understanding of everything that testing or not testing would entail for me.

Then I went back to see her and ran these assumptions and conclusions by her:

Assumption 1: I was being “watched like a hawk.” This was my oncologist’s oft repeated mantra at my several times per year, anxiety- and misery-producing follow up appointments which would occur, like clockwork, after my regularly scheduled, #scanxiety-producing screening appointments. I had been diagnosed with cancer at a young age, nobody knew why or how it had happened, and despite all the aggressive measures I had taken, there was absolutely no way to guarantee that it had not or would not metastasize (aka, come back and kill me). Hence the Hawk Surveillance Protocol.

Assumption 1.a.: Because I lived neither in Antarctica nor on a desert island, but in Los Angeles, I had quick access to world class medicine and doctors thanks to a great insurance policy that I was sacrificing many things to maintain.

If BRCA Positive: If we found that I was positive for one or both mutations, my only options were the A and B combo below:
  • A. Radical Surgery Amputation and Mutilation... as in, taking almost everything that I had been socialized to believe made me a "woman" off of and out of my body. Removal of both breasts, both ovaries and both fallopian tubes (goodbye any possibility of having children, goodbye sexuality as you once knew it, hello menopause 20 years too soon).
  • B. Continue With The Much Dreaded And Life-Disrupting Hawk Surveillance Protocol... for, basically, ever, because, and THIS IS KEY: Even with radical surgery there was still a chance I could develop breast and/or ovarian cancer in the corresponding microscopic cells that escaped the scalpel (there is no way to guarantee that every single potential offensive cell is removed). Sure, only a teeny tiny chance, but then again, when I asked what my odds of getting cancer had been as a 29-year old with no family history of cancer, the answer was “maybe 1%.” Alrighty then.

If BRCA Negative: If we found that I was negative for both mutations, my only options were this A, B and C combo:
  • A. Continue With The Much Dreaded And Life-Disrupting Hawk Surveillance Protocol .. for, basically, ever.
  • B. Hope And Pray... that the cancer would not metastasize.
  • C. Stay On Top Of Developments In Science and Medicine... while hoping and praying for, and I am revealing my hand here, truly actionable progress.

After all my due diligence, the conclusions I came to made me want to tear my hair out. They just did not seem to make any sense.

The only thing that made any sense was that I was basically screwed either way and, the best thing genetic testing as we knew it then could offer me was the iconic phrase from the Hunger Games: “May the odds be ever in your favor.”

And so, I decided to refuse BRCA testing.

My oncologist was not happy, but, her picture should go on a billboard next to the definition of Shared Decision Making. We were able to discuss my conclusions and concerns for my quality of life, and when she was confident I was making an informed decision she gave me her blessing. This did not mean she was giving up on the idea of my getting tested—she continued to check in with me on the topic in our subsequent appointments over the years.

What has left a deep scar is the extreme resistance I encountered from every other doctor I encountered in my many, many, many various and sundry follow up and screening appointments.

These “I only want what’s best for you” doctors would immediately ask if I’d had the test and upon hearing my reply, urge me (aka, give me unflinching reams of unsolicited advice; these were not oncologists—I’m talking radiologists, allergists, dermatologists, gynecologists etc.—and this was none of their business) to get tested, usually justifying their advice with words spoken ominously: “because of your history” and “because you are so young.”

They all had a lot to say, but none of them were interested in my reasons for refusing.

At one appointment it got so bad that, in tears, I had to tell this one doctor to never bring up the topic with me again, and at another, my soon to be not ob-gyn breezily said: “if you’re positive, I’ll just take everything out.” She didn’t follow those words with “no big deal,” but given her tone of voice it was implied.

No big deal? SRSLY?

Looking back, I can now appreciate that the idea of a simple blood test—one pinprick, one vial—being able to predict a person’s risk of developing not one, but two deadly cancers (breast and ovarian) was a major, major oncology breakthrough.

And beyond predicting a person’s risk, that blood test could also serve to explain WHY someone—especially a young woman—had developed cancer in the first place.

So yes, genetic testing for breast cancer was new and shiny and exciting and it now makes perfect sense why all of these doctors were so enthusiastic about my getting tested.

It does not, however, justify them ignorantly bullying me, trying to reassure themselves at my own expense.

Funnily enough, I am confident that my decision to refuse genetic testing actually helped me.

Eleven years after my first diagnosis, my oncologist found a new breast lump when digging deep into my breast tissue. After the biopsy confirmed it was indeed a second, primary invasive breast cancer, she said “you need to be tested for the BRCA 1 and 2 mutations now.” Without the slightest hesitation, I agreed.

Irony of all ironies, I tested negative for both mutations.

Bottom line, in retrospect, not knowing that I was BRCA negative helped me diligently stick to the agonizing Hawk Surveillance Protocol, which led to my 2nd diagnosis (and later on 3rd primary diagnosis) happening at a very early stage.

Going to those appointments ripped large chunks of myself out of me. They reactivated prior traumas and engendered new ones. But, the unknown is what kept me faithful. Had I learned my negative status earlier, I might have blown it all off.

In conclusion, this is what worked for me.

I am not advising anyone or everyone to do what I did, but I am telling this story to remind people that things aren’t always black and white, and that WE NEED BETTER, MORE HUMANE OPTIONS for people who learn that they have genetic mutations like BRCA 1 and 2.

Removing both breasts, ovaries and fallopian tubes is not a truly acceptable option, especially for younger women, given the profound physical and emotional impact those surgeries incur. We have to do better.

It may be empowering for the right person at the right time to have more data—but to me, more data without truly actionable solutions given my circumstances was simply not good enough.


This post has been in the works for a few years. The invitation to speak at the first Shared Decision Making Summit was the impetus to finalize it and use it as the basis for the talk I gave there.


  1. Thank you for sharing this story! Such an important example of making the informed choice that was right for you--and how amazing that it ended as it did. "The unknown is what kept me faithful" --a powerful statement, for sure. I'm hopeful that more humane options to address the knowledge of genetic disease mutations will emerge.

  2. Excellent post! There is so much freight associated with genetic testing and it is NOT a simple decision either to be tested or, if positive, to decide whether to sacrifice body parts. But most important is that the concept of informed consent -- and the right not to consent -- should always be fulfilled and respected as the patient's decision, not anyone else's. Having recently reviewed Beth Gainer's book on this very subject reminds me of how often we are bullied and patronized by doctors and clinicians. Thank you for writing this. I will be sharing it. xo, Kathi

  3. Thank you Kathi, and thank you for the reminder that, sadly, we are not alone in being bullied and patronized. Xoxo