Testing BRCA1 Positive: What Happens Next

Having the BRCA1 genetic mutation meant my chances of getting breast cancer were above 80 percent over my lifetime. The more that I learned, the less crazy a double mastectomy sounded.
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Jon sat across from me before drinking his morning coffee, trying to accumulate enough spit to fill a large vial.

"Ew, what are you doing?"

"It's the 23andme genetic test I ordered online, remember? You're doing it next."

I made a face. I was feeding our 15-month-old daughter, Edie, her morning oatmeal, and I was a bit delirious from being up several times the night before breastfeeding our newborn, Cooper.

"Seriously?" I protested. It wasn't until the following day that I gave in and filled my vial too.

Jon thought it would be a cool thing to do. His Twitter friends were all abuzz on "world DNA day" about 23andme, the company Sergey Brin's wife started. He got a good deal on the tests and was eager to send off our spit. The only problem: You can't send spit in the mail in New York. Luckily my parents were visiting from Connecticut over the weekend and happily agreed to mail in our spit samples for us.

I had no idea what the test would tell us or even what it was testing for. By the time my six-week post-birth checkup came around I had completely forgotten about the test altogether. I asked my OB/GYN whether I should get tested for the breast cancer gene now that my sister was just finishing up a horrible year fighting breast cancer with chemotherapy, a lumpectomy and radiation. My sister tested negative for the BRCA1 gene and my mother was negative too. We didn't have any grandmothers or aunts with breast cancer in our family. My sister's cancer was "random" and therefore my doctor said there was no need for me to be tested. I would just need to get mammograms.

The very next day Jon called me from work to tell me he got my 23andme test results via email and I was BRCA1 positive. I was shocked that I was the one with the gene and yet my sister was the one with the cancer. I would learn later that there is a correlation between BRCA1 and prostate cancer in men, which means my father must have been the parental carrier who passed down the gene mutation to me. My father had prostate cancer 15 years ago and is 100 percent cancer free and healthy today.

Jon asked if I was okay after hearing the news, and I was. I felt fine. I assumed this meant I would need to have more vigilant breast screenings from now on, maybe MRIs too. In the days that followed Jon vigorously Googled everything related to BRCA1. That was typical for Jon. It took me many more days to even address the issue at hand. That was typical for me.

I casually told my best friend in an email that I was BRCA1, which suddenly felt like my new identity. She quickly called me back sounding alarmed. She knew people who were BRCA1 positive like me and who had had prophylactic double mastectomies.

"Well that's a little drastic, don't you think?" I couldn't believe what she was telling me.

That's when I started tuning in to what Jon was telling me about his research findings. Having the BRCA1 genetic mutation meant my chances of getting breast cancer were above 80 percent over my lifetime. I had a hard time grasping that breast cancer was genetically fated for me. The more that I learned, the less crazy a double mastectomy sounded. It's the only way to eradicate your chance of getting breast cancer when you are BRCA1 positive. Not doing the mastectomy would mean a lifetime of worrying as I waited for early detection of cancer. And then what? I am not as strong as my older sister, and it was hard enough watching her battle breast cancer. I couldn't put myself through what she went through at some future time, especially with two babies to consider.

One week later we met with a genetic counselor and had the test redone. I had already made up my mind about my breasts, but Jon and I were still secretly hoping this was all somehow a big mistake or that Jon's online findings were somehow inaccurate. But genetic counseling confirmed the research and my decision. I would have my double mastectomy within the year while my children were still babies, and I would have my ovaries removed in four years when I turned 35, because BRCA1 mutations also increases your risk of ovarian cancer.

Surprisingly, the decision to have my breasts removed wasn't difficult to make. I didn't struggle with the decision the way other women do. I felt that I had no other option and I didn't need to postpone the surgery since I was done having babies. Jon and I never planned to have our kids so close together but now knowing my situation we are thankful Cooper, our second, came when he did, just 14 months after our first, Edie. He was a miracle baby who arrived just in time so that I could take care of what needed to be done and then go on with the rest of my life worry-free about breast cancer.

The difficult decision for me was whether to do reconstruction with the typical implants or do the more drastic FLAP procedure using tissue, fat and skin from my stomach to recreate my breasts. I didn't like the idea of having foreign objects placed in my body that would require maintenance every 10 years, but on the other hand I was hesitant about having a 10-hour surgery and having a longer hospital stay. I didn't like either option. I went back and forth a few times until I decided on the DIEP FLAP. I wanted my chest to be natural. I wanted it to be me. Plus, with the FLAP procedure I got the added bonus of having a super duper tummy tuck.

My small breasts finally worked in my favor for once; after two pregnancies I had enough stomach flab to recreate about 80 percent of my chest. And even though my plastic surgeon said it made no difference whether or not I gained any weight before surgery, I ate cheeseburgers and fries almost daily to maintain my flabby stomach. I am probably the only mother who tried not to lose her baby weight.

My surgery was scheduled for the end of September, less than four months from when I originally received the 23andme results. It sounds like a short period of time in retrospect, but I was an emotional wreck most of the summer -- making the time go by much more slowly. I cried all the time and felt sorry for myself. I had to get it over with. I loved my surgeons, my mother could take time off and I had childcare in place. I had to get it over with.

It was scary going into surgery, and it was even more awful when I woke up. I was in the hospital a total of eight days. On the morning following my surgery I had to go back into the operating room because of a kink in one of the blood vessels that had been reattached when it was moved from my stomach to my chest. I spent most of my recovery in a step-down room with four beds and a nurse's station next to me. Nurses and doctors checked on my constantly. I couldn't sleep at night, I could barely move, and I was in agony. I pushed my morphine button more than 240 times one night in desperation even though medicine could only be dispensed every 10 minutes. My hospital experience was way worse and much longer than I anticipated. I missed my children terribly.

At the end of my hospital stay, I was in my own room and had a nice little medication cocktail thanks to the pain management team. With help from a nurse was able to take a shower. I had five drains coming out of my body. I had stitches on each breast mound, from hip to hip, and around my belly button (which had to be moved).

When I went home from the hospital I had trouble looking in the mirror. Jon, who couldn't have been more loving and supportive, wasn't fazed by my appearance, but it would take me some time to get used to this new look. I had no nipples. I had a hard mass of tissue on the left breast, which made me look uneven, but mostly my chest was flat. I hated my scars. I was bruised and stiff. I couldn't lift my arms up to the side, and I couldn't lift my babies. It was tough but I was happy to be home. I was on the other side.

My body healed quickly and by week four, post surgery, I could raise my arms to my ears. I was able to sit on the floor and play with the kids and keep up with their routines at about 70 percent. I was tired and anxious to get back to my old self even though I knew I was making great progress.

Everyday gets a little easier and I am sure I'll feel totally great just in time to schedule my remaining surgeries. I am going to do minor surgeries in the months to come to add volume and create nipples. In time, my scars will fade, I'll get back to doing yoga and running around at the park with Edie without someone helping me out. In time, BRCA1 won't be my identity.

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