Genetic testing: A mother's advice, a daughter's decision
"This doesn't have to happen to you."
My mom, Susan Knudson, told me that from her hospital bed in May, less than a month before dying of ovarian cancer at age 54, leaving behind my father, my two brothers and me.
As she had done several times in the last few years, she was urging me to get tested for the gene mutation BRCA1. A year or so after her diagnosis, her own test came back positive.
"You have to remember to get tested," she said, looking me in the eye. "There's so many preventative measures and screenings that can be done so that this doesn't happen to you."
On this day, we were discussing a New York Times column in which the actress Angelina Jolie announced that she had undergone a radical preemptive double mastectomy after finding out she had a gene mutation that put her at a higher risk for breast and ovarian cancers. Her mother had the same mutation and died of breast cancer in her late-50s.
"If I had known that I had this gene, I would have had a mastectomy and a total hysterectomy when I was done having kids," my mom said.
"I'm sorry," she told me.
My mom apologized a lot, almost daily. She apologized for being sick, for everything that was happening. And then she apologized for the 50 percent chance that I had inherited this genetic mutation from her.
BRCA1, the gene mutation found in both my mom and Angelina Jolie, is one of two mutations of the BRCA gene that indicate an increased risk of breast cancer and ovarian cancer.
What my mom was telling me was that I didn't have to be like her -- dying prematurely when testing now gives women the chance to make choices about prevention.
But I'm not my mom.
And I'm not like so many of the women who find out they have this gene after they have families and are able to have preventive surgeries to reduce their risk of getting cancer.
I'm 20 years old. I don't have any kids. I'm not married. I'm not even sure at this point if I want kids or a husband.
I'm also kind of a hypochondriac. I'm the person who takes the scans from her brain MRI and compares it to YouTube videos of normal MRIs to see if I'm going to die of a tumor.
Being tested for BRCA1 means having to live with the results, and it means having to face decisions that affect a future that I may or may not have or want.
It's hard to look at my mother's situation and try to imagine myself in it. It's hard to even think about it most of the time. Deciding whether or not to heed my mom's advice is complicated, but I can't help but remember the way she looked at me when she said:
"This doesn't have to happen to you."
My parents moved to Tempe from New York in the late 1980s, and we've lived there ever since. My mom was active in the community, serving on the Kyrene School District Governing Board and the Kyrene Employees Benefit Trust.
She was diagnosed with ovarian cancer in 2009, during my sophomore year of high school. Her doctor went in to remove her gall bladder and found that it was cancer, not gallstones, that was causing her pain and other symptoms.
Even after finding out shortly after her diagnosis that my mom had BRCA1, and knowing that I had a 50/50 shot at having it too, I avoided doing research about it.
I was 16, and it just didn't matter. Every time my mom brought it up, it lingered in my mind for a brief moment before fading away because it wasn't as though I was supposed to be tested right then.
Since her death, getting tested has weighed more heavily.
A few weeks ago, I pulled a fact sheet for the BRCA mutations, just looking for an overview of what it was I'm potentially up against.
This is what I found on a fact sheet from cancer.gov:
BRCA1 and BRCA2 mutations account for 5 to 10 percent of all breast cancer cases and 15 percent of all ovarian cancer cases. Having either mutation bears with it an increased risk of both cancers, as well as a greater chance of developing them at a younger age.
BRCA1 is the worse of the two. Fifty-five to 60 percent of women with BRCA1 will develop breast cancer, and 39 percent will develop ovarian cancer by age 70.
I then found research published in the Journal of Clinical Oncology showing that only 53 percent of women who carry BRCA1 live to age 70, this compared to 84 percent of women without a BRCA mutation. Of the 47 percent who die before age 70, 77 percent of them will die of breast cancer or ovarian cancer.
According to the study, the most effective "survival" method is a preventative mastectomy at 25 and preventative oophorectomy, the removal of the ovaries and fallopian tubes, at 40. This increases the survival rate from 53 percent to 79 percent.
It's challenging to make everyday life choices when you're faced with that kind of an outlook.
It doesn't help matters when genetic testing is everywhere right now, in newspapers and pop culture.
A recent New York Times article described how a woman in Israel with one of the BRCA mutations was encouraging her 24-year-old daughter to marry young and start a family early so that she can be tested and have the preventative surgery that her mother had.
Even Dr. Meredith Grey from the television show "Grey's Anatomy" had genetic testing done. She found out that she has more than one of the genetic markers for Alzheimer's and was concerned about winding up like her mother, who died of Alzheimer's. Her husband, Derek Shepherd, attempted to reassure her that the test doesn't mean she's definitely going to get the disease, and he essentially told her to calm down.
In an attempt to make her feel better, Derek got his own genetic panel done and found out various wacky things about his own genetic makeup. He's apparently at risk for liver cancer, prostate cancer, male pattern baldness and heroin addiction.
"We didn't get one single definite. We all got maybes," Derek reassured Meredith, to which she replied, "Maybe we'll live forever."
"Maybe we do, and maybe I become a bald heroin addict," Derek said.
It didn't seem to help either of them to know the possibilities. It became something extra that they had to contend with.
I keep reading about women who have preemptive surgeries based on the statistics about them getting cancer. I'm sure if there were a surgery that Meredith Grey could have had to reduce her risk of Alzheimer's that she would do it, if only for the ratings.
But Meredith Grey is married with two children and has a relatively successful career as a surgeon. I didn't even have a bank account until a year ago.
If I decide to go ahead with the test and find out whether or not I have this gene, what am I supposed to do with the information?
If I have the gene, that doesn't necessarily mean that I'm going to get cancer. But if I don't have the gene, that doesn't necessarily mean that I'm not going to get cancer.
It seems strange to decide at 20 whether or not I want to undergo two extreme surgeries that bear with them a whole host of side effects and consequences.
Even the screenings to try to catch cancer early are extensive and frequent. Multiple MRIs, ultrasounds and blood tests are recommended for those with the BRCA mutations. The survival rate for a woman with BRCA1 who opts for regular screenings instead of surgery is only 59 percent.
I can't imagine living month to month wondering when one of the tests is going to reveal that I have cancer. But I also can't imagine essentially mutilating my body based on statistics and probability.
I'm not sure if living with the results and facing the decisions about the maybes is worth the benefit of potentially not ending up like my mom. The world of maybes doesn't seem any more comforting than the world of ignorance.
Recently, I explained to my dad that I was writing this. He tilted his head to the side as he handed me a cup of coffee.
"You know that you don't have to decide right now. We're not at that point. You've got time to make a decision," he said.
Now, for better or for worse, I've got both of my parents' voices in my head.
This doesn't have to happen to me ... but I have some time to decide if I want to get tested.