I am a 7-year survivor of breast cancer and now know that I carry the BRCA-1 gene mutation. This has enormous implications, none of which fit into my birthday plans of celebrating 50 this year.
I must go back to last July, when my oncologist--that overly protective, obsessive little vixen who is constantly advising me about exercise (do) and soy (don't) and stress (lower) and estrogen (avoid)--brought up the issue of me getting tested for this wayward gene. She told me the BRCA gene often surfaced in younger women who were diagnosed with breast cancer under the age of 50. And since I had had breast cancer at 42, I qualified. Lucky me.
I mulled over her suggestion for about one second, and then dismissed it. After all, when I was first diagnosed, my surgeon (who sat on "the" major cancer board that determined these sort of things) said my cancer wasn't due to heredity since no immediate female relatives had breast cancer when they were pre-menopausal -- a key indicator. The other doctors agreed my cancer was simply the (bad) luck of the draw.
It was also difficult to trace breast cancer in my family since males outnumber females. I have no sisters, no aunts and only one great aunt, who lived well into her 80s. I don't know how Aunt Thelma died, but I expect it was associated with her poor fashion choices. (She appeared at a family funeral with stop-sign red hair and a plunging neckline showing off her ample bosom. She was over 80 at the time.)
To confuse the matter, my paternal grandmother did have breast cancer, but she was almost 70 when she was diagnosed, lived off country cooking with loads of lard, and sucked in second-hand smoke every day of her marriage since my grandfather had been smoking since childhood. You've probably guessed that my family is Southern.
Even with a lifelong unfiltered cigarette habit, my grandfather lived until his seventies, and didn't die from cancer. And, here I was with stage 3 breast cancer at 42 and had NEVER lit a match for anything other than a candlelight dinner. Maybe I was living too clean a life.
But I digress. Two months later, I was in my gynecologist's office for my annual visit. When I brought up the BRCA matter, she jumped all over it, telling me that if I carried the gene mutation, then my chances of developing ovarian cancer were significant--so high, in fact, that I was "good as dead."
Furthermore, she pointed out, there were NO effective screening measures for ovarian cancer (like there is for prostate cancer) until it's in later stages of development...and then, it's often too late.
After this tidbit of info, I decided, why not? So, I set up an appointment with a genetic counselor to help me discover my fate.
During the visit with my counselor, Clarisse, she pulled out an enormous notebook and placed it on the table in front of me. She began flipping through the pages, giving me a refresher course on DNA...which was good since I had no recall from high school biology, when I was more interested in the hot guy sitting next to me in class than on cell formation. When Clarisse finished her lecture, she sketched an outline of a tree. Then it was my turn to fill it in with family members dangling from the branches.
Unfortunately, I know less about my family tree than I do about DNA.
In case you're wondering why I didn't come prepared--especially, since we're dealing with my fate here--it never occurred to me to bring along any family documents or quiz my parents before the counseling session. I must add that I was keeping my BRCA testing a secret from my parents, since their nerves have never recovered from me having cancer in the first place.
Therefore, trying to remember who needed to be included in the tree and on what branch--or even their correct name--was a significant challenge. I had to rely on my fractured memory.
You would think that since my mom had been taking geneology classes and conducting extensive research on her ancestral line for several years, I would have gathered a fact or two. She's traced her family up and down the East coast and as far back to the Mayflower, and presented each of us kids with a folder containing graphs and charts, and even a matrix (with a pop quiz at the end). But, I confess I never paid attention to it -- and frankly have misplaced it somewhere in my house -- because her family seemed quite dull. I ask you, would you care to read about a great aunt whose claim to fame was having perfect Sunday School attendance for 90 years?
Dad's family, on the other hand, was another story. While Mom's great aunt was garnering Sunday school merit badges, the story of Dad's great aunt was of her getting drunk off whiskey with her first cousin, and proceeding to shoot ice cubes up each others' skirts while sitting on the kitchen floor. Well, they were from Alabama, after all...and if you're from the South, you have at least one of those relatives. As my friend, Cheryl, puts it: "Every family has a skeleton in the closet, but we Southerners parade them out in front of everybody."
Despite Dad's interesting family lore, he knew little about his ancestral ties--as evidenced by the fact that we still have to remind him of his grandmother's first name (Della.)
Somehow I filled out the family tree, however, it looked somewhat drought-stricken. Clarisse said it was sufficient, but I think she just said that because she was growing tired of the whole process with me.
After that, all I had to do was Fed-X a vial of blood to Myriad Labs in Utah, the only lab in the U.S. that conducts BRCA gene testing. I was told I'd receive the results in three to four weeks. I also discovered that my insurance would pay for the testing, which is good since it's around $3,000...
My oncologist told me that if, in fact, I ended up carrying the gene, I would need to undergo a double mastectomy and a hysterectomy. Surprisingly, these prophylactic operations are much cheaper than cancer treatment, so insurance also tended to cover the cost of them.
A few weeks passed and I didn't think much about the test since I was convinced I was not a "carrier." Then, late one Friday afternoon, Clarisse left a message on my home phone, which I didn't retrieve until I had arrived from work at 6 p.m. Her message stated that she had the results, but was leaving the office for the weekend and for me to call her on Monday.
Unfortunately, I was scheduled to fly to Buenos Aires the next day for a 2-week vacation...so my news would have to wait.
When I returned 2 weeks later, now Clarisse was away on her delayed honeymoon. Is it my imagination, or does it seem to take an Act of God or Act of Congress to get vital information when you need it?
While Clarisse was off honeymooning, my husband, Gary, and I attended a wedding with my parents. We were sitting around chit-chatting after the wedding, when Mom happened to mention that her two first cousins both died of breast cancer at very early ages. I stared at her, aghast, and said, "NOW you tell me!"
Mom didn't understand why I overreacted until I fessed up about being tested for the BRCA gene. All to say, with this new insight, I took this testing seriously and began to worry. And so did Mom.
The following Monday, I was finally able to track down Clarisse, who had just returned to the office. She politely asked if I calling from work or home. That she would inquire about my whereabouts gave me a clue that the news might not be good. "Home," I replied.
She proceeded to go through the test in a casual manner, telling me that I "passed" the initial testing. But before I could breathe a sigh of relief, she dropped the bomb. Additional testing revealed that I had an extra set of DNA on the BRCA1 gene. Extra set of DNA=a mutation.
You could say that I underestimated the extent of my surgery and recovery. Just a little. The doctors tried to warn me, but I wouldn't listen.
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