genetics

Over the past couple of weeks, a new cancer diagnosis has distracted me from paying much attention to the weather among other things, so it was a lovely surprise to wake up this morning to a sparkling blanket of new snow.  

snowy February morning

Since I've gotten many questions about this, I want to address the subject of the BRCA2 gene, aka the breast cancer gene.  As some of you know, I am a carrier of the BRCA2 gene mutation which I have known about for 15 years now.  I learned this as a result of genetic testing I had done in 2003 as part of a study at Georgetown's Lombardi Cancer Center which I was invited to join because of a significant history of breast and ovarian cancer on my father's side of the family.  As a BRCA2 carrier, my lifetime risk of developing both breast and ovarian cancer is quite a bit higher than that of the general population.  

I lost my paternal grandmother to ovarian cancer and my oldest cousin to melanoma resulting from BRCA2-related metastatic cancer at age 38.  With this all in mind, shortly after I was done nursing our second daughter Beatrice, with virtually no hesitation, I decided to have a prophylactic (preventative) bilateral mastectomy as a way to significantly reduce my risk of developing breast cancer.  I had this surgery in 2011 and to be honest I feel just as grateful now as I did then that I was able to take this step proactively.  This said, it was an unpleasant surprise to then learn that cancer had nefariously found its way into a completely different part of my body.  But there it was, here it is and on we go.

While having the BRCA2 gene mutation does increase my risk of certain cancers beyond breast and ovarian cancer, interestingly enough colon cancer is not one of them (although current research is under way that may prove otherwise).  Since colon cancer is rare in people under the age of 50, I will be meeting with a genetic counselor at Dana Farber in May to review further genetic testing options with regard to my particular type of cancer.  My family has no known history of colon cancer, however, the main reason I had a colonoscopy is that my younger sister Miriam had one last year and because pre-cancerous polyps were found in her colon, her doctor advised her to make sure her siblings also had colonoscopies as soon as possible, even though my brother and I are both under the age of 50 which is when people in this country typically get their first colonoscopy. 

As for the coming week, on Tuesday Robbie and I will meet with a radiation oncologist at NH Oncology & Hematology to review the course of my radiation treatment.  After this we attend a class called "chemo teach" that presumably does exactly this.  I am hoping after this appointment that I will be ready to start the chemo and radiation on Monday Feb. 26th (for some reason, apparently treatment always starts on a Monday?).  I am having a bit of trouble being patient as I wait to start but I'll just assume it's all part of the plan and at some point I will see why and how all the pieces fell into place as they did. For now I'll just sit tight and snuggle up in bed with Flo and Bea to read a bedtime story.