Genes Can Kill You

The report from the genetic counselor came in the mail, and I opened it to see this bright red, with the words "SIGNIFICANT MUTATION IDENTIFIED" emblazoned prominently on the first page.  Since I read comic books as a kid, I immediately thought, "Cool--I can join Professor X and his roving gang of crime fighting mutants!"   Reality hit in the next second, as I read further.  Yes, indeed, I do have the BRCA1 mutation.  Which means that I am at high risk for breast and ovarian cancer, the report read. 


Of course I am at high risk, I thought.  Of course. I already have the cancer that I'm supposed to be at high risk for, I wanted to yell.  But in a way, this news was a relief.  I had been beating myself up since I was diagnosed.  I must have done something, I thought, to be visited by such an aggressive and fast growing cancer.  As far as I knew at the time, I was the only person in my family who had ever had breast cancer.

I must have been exposed to something, I thought.  Maybe I inhaled too much cigarette smoke when I worked as a bartender.  Maybe I should have paid more attention when my previous employers did their asbestos removal, or when they insisted that the bat guano accumulated over the years in the attic above my desk was not an environmental hazard.  Perhaps my alcohol consumption in my twenties was the culprit.  Surely there was something to explain this random arrival of breast cancer in my neck of the gene pool.  I was beating myself up about the entire event, because it was so unexplainable to me. If I had been diagnosed with melanoma or a form of skin cancer, that wouldn't have phased me one bit; I spent hours outside in the sun without any sunscreen for years growing up, just like every other person my age.  If I had been diagnosed with lung cancer, my repeated exposure to second hand smoke would have had me nodding in understanding instead of confusion.

Having the "random" aspect of my diagnosis eliminated meant that I had not done any particular thing to merit a tumor.  There was a clear genetic reason for my situation; a mutation passed to me from my father's side of the family.  And since I'm also at high risk for ovarian cancer,  due to the same gene, now I have the knowledge I need to make some decisions.  Knowledge is power.

My oncologist read the report and recommended a hysterectomy, since one of my ovaries lit up on the last PET scan that I had.  He actually wanted me to have this done immediately.  I pictured another major surgery invading my life, with another six weeks of recovery on top of the planned mastectomy/reconstruction I had planned.  I was also concerned that I hadn't been visited by the menopause fairy, with her random hot flashes and other goodies.  Would that affect anything?

I visited with my Ob-Gyn, who never seems to panic or get upset, no matter what.  BRCA1, I said.  He didn't even bat an eye.  Outpatient surgery, he said.  Laproscopic.  Apparently there's also a robot assistant, which intrigued the nerd in my heart of hearts.  Wait until after radiation is done, he recommended. I left his office feeling less anxious than normal.

I won't be finished after all that, according to the genetic report.  I'll also have to pay attention to the possibility that I may acquire pancreatic cancer and colon cancer along the way as I age.  But those risks are not as significant as the first two, and are manageable on my anxiety scale. I then got on the Facebook Family messaging system and contacted as many of my cousins as I could, to spread the word.  After all, if two of seven siblings had the gene, odds were good that others might have passed it on.  I know that at least one of my cousins was at the genetic counselor within a week, getting tested. 

Knowledge is power.