I’m a 35-year-old university professor. I have twin 9-year-old daughters. And I have an 87 percent chance of developing breast cancer.
Now that I know, what do I do about it?
The answer is a lot more convoluted than you might think, and I have found very little help in making some very big decisions.
I carry the BRCA1 mutation, like Angelina Jolie, but with less movie-star glamour and plenty of real-life confusion and fear.
My family history argues that I do something about this genetic error. My grandmother got breast cancer twice, and died of colon cancer at 67. Two of my great-aunts died of it, at ages 36 and 43. Two of my aunts are breast cancer survivors, and my 32-year-old cousin is receiving treatment for Stage 4 right now.
But my choices are grim. I can continue to monitor my body through MRIs, ultrasounds and mammograms every six months, or I can chop away at that body, getting rid of the threatening areas before a problem occurs.
Choosing is a lonely and scary prospect. Down one road is preventive surgery: losing my breasts (and then my ovaries in a separate procedure, because I also have a 73 percent chance of ovarian cancer), going through menopause as a result of the hysterectomy, waiting months for reconstruction, pressured all the while to take little time off from work because I’m a contract worker and can’t afford a long absence. All of this for a disease that doesn’t yet exist.
Down the other road: almost certain cancer, chemotherapy, radiation, and a mastectomy and hysterectomy anyway. And on the small chance I don’t contract the Big C, it means the rest of my life will be punctuated by scans, tests and cancer scares whenever even a tiny detail looks off. Then I’d have to pay for all the tests required just to prove that I’m still okay.
My family history has made me aware, but most people don’t even know they are BRCA mutation carriers until it is too late, according to statistical geneticist Karoline Kuchenbaecker at University College London. She has studied BRCA mutation carriers in an attempt to determine their cancer risk.
“BRCA is so rare, you don’t usually look for the mutation until they already have cancer,” Kuchenbaecker said. “We can’t tell exactly when the tumor starts; usually mutations start to accumulate many years before the cancer starts. So, we usually have to work after a diagnosis.”
That wasn’t the case in her study.
“Most of the women we recruited were cancer-free on the onset, and then we waited, and analyzed who developed cancer.”
Kuchenbaecker and her co-researchers found that BRCA1 mutation carriers have a large surge in cancer risk in their late 20s through their 30s; then the risk levels off. For those carrying BRCA2 mutations, the risk steadily increases throughout their lives. Because BRCA1 mutation carriers, like me, have a much greater risk of developing cancer young and have a high risk for the rest of our lives, we should consider surgery as early as possible.
But it’s difficult to determine the best time for surgery. Even though my medical team and genetics report have put my likelihood of cancer at 87 percent, every time I asked my doctors about the best time for surgery, they said it was up to me.
A recent study in the journal Decision Analysis offers help. It suggests that because 45 to 65 percent of those of us with BRCA1 or BRCA2 mutations will develop breast cancer and 15 to 39 percent will develop ovarian cancer, double mastectomies should be considered from age 30 to 60 (at the later ages for those with lower-risk BRCA2), and our ovaries should be removed after age 40. The study, “Was Angelina Jolie Right?,” developed a model for decision-making that factors in decisions about quality of life and fertility.
Elisa Long, one of the researchers, is a BRCA1 carrier who developed cancer in her early 30s.
“What prompted me to write this paper is I was asking all my doctors when I should have my ovaries removed, and I talked to 25 doctors, and none of them could tell me,” Long said. “We need to provide better guidance. Many doctors don’t know much about genetics; they themselves can’t read one of these studies and come up with a tailored plan for you.”
One of the problems with optimal surgery estimations is how personalized each mutation is. While we talk about BRCA1 and BRCA2 as if they are two mutations, they actually represent thousands of different mutations. The only thing those labels actually say is that somewhere on the BRCA gene on chromosome 13 (for BRCA1) or chromosome 17 (for BRCA2) there is a tiny mistake in the code.
“Say you’re a book, and from pages 3,000 to 6,000 is the BRCA gene,” Long explained. “In one sentence on Page 3,114, there is an ‘A’ instead of a ‘G’ for one particular person. That’s their mutation. For another person, in the third word on Page 5,000, there’s a ‘G’ instead of an ‘A.’ So, there are multiple ways in which there could be an error.”
And, of course, up until recently, I never would have known this about myself at all.
So, yes. I’m 35 years old, and I have made my decision. I have decided on a preventive mastectomy. It was not an easy decision. It’s a six-hour surgery, a stay in the hospital and three weeks of work lost, without pay. And that’s just the first surgery where they remove the treacherous tissue and put in expanders to ruin my pectorals.
After that, it’s months of follow-ups where a plastic surgeon slowly fills in my own skin with the expanders, then a separate surgery to implant silicone or saline.
Not only will I be without breasts, I should have my ovaries removed, too. Because you can’t detect ovarian cancer early, if you get it, it’s frequently a death sentence.
I’ll go through menopause. I’ll be unable to have any more children. I’ll have to live the rest of my life on hormone supplements. My hair and skin and body shape will change.
I’m losing me. A lot of me. I’m losing my breasts and my chest. I’m losing my exercise routines and my fitness regime. I’m losing the shape I’ve always known. I’m losing my body. Metaphorically, I’m losing my mind.
And I don’t even have cancer . . . yet.
How do so many people face adversity with graceful strength and unyielding optimism? I certainly don’t have that cheerful, quiet fortitude. I have a grim, forced march forward. There is nothing graceful about this struggle.
“I hate when it’s referred to as a battle,” Long said. “When someone loses their battle with cancer, it implies there was something they personally could have done to win it. That there was some failing within themselves when it was never about that. It’s not a fight or a battle. It’s an illness.”
Long is 36 and going through menopause after having her ovaries removed. Her family history wasn’t as telling as mine. It took her getting cancer for doctors to realize she had a mutation.
I am taking the chance to do something before that happens to me. And the genetic testing normalized by a movie star is responsible for that. While some argue that these expensive tests and women’s fears may waste millions of dollars, I think those tests will spare me a possibly fatal illness as they did for another of my cousins and my mother, both of whom had preventive surgery. Fewer than 1 in 400 women in the general population have a mutation such as mine, but if you are that one whose life is spared, it sure feels worth it.
Thank you, Angelina Jolie. I think you saved my life.
Cunha is a freelance writer and a journalism professor at the University of Florida.