BRCA SCHMACA: This is Serious Business

Image:  US National Library of Medicine

Dear Blog,

Before you were “born,” I had a laparoscopic cholecystectomy (doc-speak for surgical removal of the gallbladder) and after it was all over, I sent this note to my terrific surgeon:

Dear Dr. Z--,

Before my life returns to the pace it was before my recent surgery, I want to thank you again for the outstanding medical care you provided and for the many kindnesses you demonstrated to me and my family throughout this entire unanticipated adventure.  I will be ever grateful to you for all that you did and, although I hope not to need a surgeon again anytime soon, you will always be at the top of my list!

With gratitude and thanks,
JanetheWriter

As it turns out, “anytime soon” is now…

A few weeks after my mom died this spring from breast cancer, my sister and I, given our family history, opted to pursue genetic counseling and testing for the BRCA (BReast CAncer) gene mutations, which are common among Ashkenazi Jews (too much inbreeding in the shtetl).  Although my sister's test results were negative, mine were positive for 6174delT, a BRCA2 gene mutation that significantly increases my lifetime risk of both breast and ovarian cancer. 

In September, I consulted with a scalpel-happy surgeon at Mt. Sinai referred to me by my gynecologist.  Sadly, if the guy had had a scalpel handy, I’m fairly certain that I’d already be without a lot of body parts.  The fact that I told him right from the get-go that I was just doing my homework and not prepared to make any decisions at the moment didn’t seem to register with him.  Neither did the fact that I’ve never been pregnant ("nulligravida" in doc-speak).  He asked me about it three times (yes, three times!) in 10 minutes.  By the third time, I wanted to say, “No, I’ve never been pregnant, just like I told you the last time you asked, and the time before that, too.”  Of course I didn’t say any of that…

Six weeks later, after submitting reams of paperwork, including my positive genetic test results, I met with a genetic counselor and the chief of the clinical genetics service at Memorial Sloan-Kettering Cancer Center.  Back in 1995, he headed up the team that discovered the 6174delT mutation so he knows a thing or two about all that inbreeding in the shtetl ("genetic drift" in doc-speak).  Nearly three hours later, I left there with a handful of referrals (all their “favorite people,” they told me) and deep confidence that I'd finally found a team of competent, caring professionals who will make sure that whatever decisions I make—now and in the future—will be the right ones for me.

Now, I visit doctors like an octogenarian.  Last week it was the surgeon who’s going to do a laparoscopic, robotic TLH-BSO (how’s that for doc-speak?!) on December 29.  Although it’s generally a same-day procedure, and I expect to be up and around sooner, the anticipated recovery time is four to six weeks.  Yes, four to six weeks…yikes! 

From my perspective, though, the oophorectomy (the “O” in the BSO above) is a “no brainer” because ovarian cancer is nearly impossible to detect in its early stages.  Same with the hysterectomy (the “H” in the TLH above) not only because I certainly don’t need that particular equipment at this stage in my life, but also because Tamoxifen, a chemotherapy drug that’s effective in preventing breast cancer and may be an option for me, carries an increased risk of uterine cancer.  Talk about a Catch-22…

As for the rest, next week I’ll see the medical oncologist who focuses on high surveillance and frequent testing of people with hereditary cancer risk but no disease.  I hope this guy and I can become BFFs (with heavy emphasis on the second F), but I’m well aware that should my circumstances change, it may become necessary to take other, more proactive steps and, for the time being, I’m comfortable with this plan.

To be continued…