The gift of the BRCAs

Goddamned National Breast Cancer Awareness Month. From the time I became cognizant of the fact that maybe one day I might get breast cancer (sometime around my thirtieth birthday, which also coincided with my preparing to become a first-time mother) until the year I was actually diagnosed, I used to count the days until October was over. Here I was wanting to forget about this awful disease that killed my dad's mom before her fiftieth birthay, this horrendous disease which too often seemed to strike young women, especially young Ashkenazik (eastern European) Jewish women...and I couldn't pick up a freakin' Glamour or Self without being forced to acknowledge the whole ugly breast cancer thing. There it was in black and white and glossy color: breast cancer survivors, young breast cancer survivors, pregnant breast cancer survivors, breast-feeding breast cancer survivors, breast cancer sob stories, breast cancer self-examination, breast cancer detection, breast cancer risk, breast cancer blah blah blah. I couldn't go near Central Park on the weekends in October without seeing throngs of people, mainly women, gathering for the various races and fun runs and walks that support breast cancer charities. Pink visors, pink t-shirts, pink ribbons, everything the color of Pepto Bismal. And it all made me want to throw up. Each year, I would sign up for the Susan B. Komen Race for the Cure, throw in an extra hundred bucks donation, and then on the day of the race stay as far away from Central Park as possible. I simply couldn't bear to be around all that cancer.

Not that I would admit that to myself. There was always "something" that kept me from the Komen race. There was always some "reason" why I never got around to reading the saga of the model who got breast cancer and died, leaving behind a four-year old daughter. I remember talking to my sister about it, gingerly padding around the notion that the whole breast cancer awareness thing might be doing not much more than raising anxiety levels amongs "women". Not me, of course. Because what was there to be afraid of? I could never get breast cancer.

I mean, hell, it was my FATHER'S mother who died young of breast cancer. Oh yeah, and her sister too. And that doesn't count, right? Well, at least that is what my former OB/GYN (a very well-loved, highly respected OB/GYN, by the way) told me when I quietly, almost apologetically asked her about my risk. And it was my father's brother who died of colon cancer when he was 39. My mom's family had none of that stuff going on. And I was thin, and I worked out, and sometimes I even skipped my period, which indicated that my estrogen levels were low, which seemed like a really good idea, given that estrogen was known to fuel breast cancer. Right? So, it's not that I was "afraid" of breast cancer. It's just that I found all the endless talk about breast cancer to be...well...just rather unpleasant. Simple as that. Yeah. That's it.

In the course of that aforementioned conversation with Dr. B, I brought up the possibility of taking the test for the "breast cancer gene", which is really two genes, at least at this moment in scientific time. I was 35 by this time, and the mother of two young sons, and my dad had recently been diagnosed with his first adenocarcinoma (science-lingo for cancer that originates in a gland)...prostate cancer (his next cancer, non-small cell lung cancer, would be diagnosed seven years later...harsh, considering that Dad is a non-smoker). But according to Dr. B, "Although they are both adenocarcinomas, prostate cancer is not linked to breast cancer. They have nothing to do with one another." We now know this to be untrue, but let's just give Dr. B the benefit of the doubt and assume that the scientists had not yet made the connection between breast and prostate cancers, or between breast and colon cancer either.

In any event, Dr. B did not recommend the test for me. In her view, there simply was not a familial link between all the cancers on my dad's side of the family. She recommended that I have a colonoscopy (which I did) and a mammogram (which I did). All was clean. All was well. But every time I let my mind wander to my rather checkered paternal health history, it shook me to my core. So most of the time, I just tried not to think about it. Hence, October = blech.

To this day, I don't understand what the harm would have been in testing for the gene, even if the family history didn't quite add up. Sure, it would have been pretty difficult to go through a prophylactic double mastectomy and oophorectomy (ovary removal), but I think that if I had the facts in front of me...the fact of a positive test result on the BRCA 1 or BRCA 2 gene, and what that all means...well, I would have gotten on board with the idea of surgery pretty quickly.

So, what does it mean to be BRCA1 or BRCA2 positive? Well, for starters, according to breastcancer.org, women who have an abnormal BRCA1 or BRCA2 gene have up to an 85% risk of developing breast cancer by age 70. Women with BRCA1 and BRCA2 abnormalities are also at increased risk of developing ovarian cancer. The lifetime risk is about 55% for women with BRCA1 mutations and about 25% for women with BRCA2 mutations.

But it gets worse. According to the National Cancer Institute, as well as numerous other sources, women who are "BRCA positive" tend to be diagnosed with breast cancer at an earlier age. Cancerhelp.org.uk reports that HALF of all women who are BRCA positive will have developed breast cancer by the time they are 50 years old. That is WICKED scary.

If you are lucky enough to find out that you have an abnormal BRCA gene, you have choices. You can get your prophylactic mastectomy. You can begin to think about planning your family sooner rather than later so that you can have your ovaries removed before you turn 40 (the age at which ovarian cancer risks starts to climb more rapidly). At the very least, you can practice VERY watchful waiting, like one woman I know is doing.

Frankly, I am of the opinion that this woman, J, is playing with fire. See, the most surefire way to survive breast cancer is to never get it at all. The thing about breast cancer that is so insidious (and which so many of the "breast cancer awareness" progagandizers don't tell you), is that breast cancer can metastasize EVEN if you catch it at a very early stage. Generally speaking, you only die from breast cancer if the cancer metastasizes. Thus, whereas "early detection" will spell "cure" in the case of some cancers (malignant melanoma and prostate cancer, for example), it does NOT spell "cure" in the case of breast cancer. Once you have had a breast cancer diagnosis, however small your tumor was, regardless of whether or not it has spread to the lymph nodes, you can never be considered "cured". The best that you can hope for is a nice remission that lasts your entire life. Thus, breast cancer AVOIDANCE is the first prong of a good attack plan. Early detection is a distant SECOND.

In addition, if you are a young woman who is diagnosed with breast cancer, however small, however early, regardless of whether you opt for a lumpectomy or a mastectomy, it is more than likely that you will have to go through a three to six-month protocol of chemotherapy. And the chemo that is typically given to young women with breast cancer is among the awfulest of the awfuls (while there is a less harsh chemo protocol for breast cancer called "CMF", it is seldom given to young women because it doesn't seem to work as well in young women). They don't call it the "Red Devil" for nothing.

After chemotherapy, if you are lucky enough to have had a cancer that is hormone-responsive (i.e., the cancer feeds on estrogen and/or progesterone; this type of breast cancer is known to have a better survival rate than non-hormone-responsive breast cancer), then you may spend the next five years (or more) on hormone therapy, such as Tamoxifen (which is known to cause significant weight gain) or one of the Aromatase Inhibitors (which you can't take unless you are post-menopausal, which can be induced through surgery to remove the ovaries or which may have ALREADY been induced by the chemotherapy). Aromatase Inhibitors work on the adrenal gland to suppress the body's manufacture of estrogen from outside of the ovaries (fat cells are a source of estrogen-manufacture, which goes a long way toward explaining why women tend to gain weight after menopause: without the ovaries producing estrogen, the body is struggling to conserve its other estrogen resources).

So, here's the million dollar question. If you knew that your chances of getting breast cancer before you are 50 years old are basically no better than a coin toss, would you really want to wait and see if you got it? J, who is doing just that, does not want to lose her breasts, but she has other issues as well, namely that her greatest fear is ovarian cancer (her mother died from it). Therefore, she feels that she has to deal with her ovaries first and foremost, and until she knows what she is going to be doing about her ovaries, she is paralyzed as far as her breasts go.

Look, I understand.... it's not easy to give up your breasts. I really liked mine. It's not easy to give up your ovaries if you dream of having more children or you hate the idea of dealing with hot flashes and battling weight gain around your middle. But when you have the facts in front of you, at least you get to make your own choices. I didn't have those choices because I didn't have the testing. Or, rather, I didn't have the testing until AFTER I already got my breast cancer diagnosis and had already had my breasts and ovaries removed.

And guess what?

I tested negative.

You could have knocked me over with a feather when I got the news. And good news it was. VERY good news. It means that I don't have to have additional surgery to remove my fallopian tubes. It means that I am not at any known high risk for ovarian cancer, colon cancer or pancreatic cancer. It means that I can't have passed the gene to my two sons or to any of their children or children's children.

But it's not such good news for my sister. Since I don't carry the mutated gene, then there is no point in testing her at all. Because what is there to test her for? But that does not leave her risk-free. See, Vanessa and I still have a significant family breast cancer history. And just because we don't carry either of the identified BRCA mutations doesn't mean that we don't carry SOME OTHER as-yet-unidentified genetic mutation that carries with it, for example, a risk of breast, colon, prostate and lung cancer (not to mention Hodgkin's, which my father's niece, the daughter of his brother who died of colon cancer in his thirties, had in her mid- twenties).

Here's how my genetic counselor explained it. If my breast cancer was caused by some unidentified genetic mutation, then there is a 50 percent chance that my sister inherited the same mutation. If that mutation is anything like the BRCA mutations, then IF Vanessa inherited it, she would have an 85 percent chance of developing breast cancer in her lifetime. So, we're talking about a fifty percent chance of having an 85 percent chance. Toss a coin, get the wrong side and you've got a pretty good chance of getting a pretty bad disease.

The trouble is, who knows? Easy for me to say, "Vanessa, go and get yourself a double mastectomy, just in case." But I can only imagine how unreasonable that might sound to her. If only I tested BRCA-positive, then we might know what kind of risk my sister is looking at.

Thus, as shitty as it is, testing BRCA-positive can truly be viewed as a gift. The gift of knowledge. The gift of choice.

For more information about hereditary breast and ovarian cancer and the BRCA genes, check out FORCE: Facing Our Risk of Cancer Empowered.

YC