BRCA JOURNAL: THE JOURNEY OF A NEW MOM

(Chapter 1 of 5. Read Part 2 here.)

Someone once told me it was normal that I always just assumed I would die young, that it’s a common fear among people who lose a parent at a young age. It made sense, but in my heart, I always felt that there was more to it. My mom died from pancreatic cancer a few weeks after her 39th birthday when I was 14 years old. The experience was devastating--to me, my three younger brothers, my father and our entire close-knit family. My mother was a magnificent woman who was generous with her love. She touched many with her creativity, compassion, devotion and her wicked sense of humor.

But I didn’t just lose my mom. I lost several relatives to cancer. My grandmother lost her battle with breast cancer when she was 44; my mother was only 6 years old. My Aunt Bernice and her daughter, Shelley, also lost their fights with breast cancer. And that was just on my mom’s side of the family.

On my dad’s side, I have an aunt who survived breast cancer, which she developed and heroically fought in her early 50s. She was diagnosed only one year after her husband, one of the sweetest men to ever walk the face of the earth, died of pancreatic cancer. Lung cancer killed my grandmother after too many years of smoking, colon cancer took a great uncle and my great grandfather lost his 15-year fight with cancer in his 90s.

Cancer is, and always has been, in the forefront of my mind. While I love and admire my mother beyond words, I must admit, I don’t want to follow in her footsteps on this particular path. I want to be around to watch my children grow, watch them graduate high school, go off to college, get married and have children—all things that my mother and my grandmother missed out on.

I have not been the only one concerned that I might have a susceptibility to cancer. Even before exploring genetic testing, my husband worried about it. Despite the fact that I am healthy and, knock-on-wood, have had no serious health concerns, my husband was spooked by my family history. It’s hard not to be. We laughed then and we laugh now about how he has pushed every type of anti-oxidant under the sun on me in an effort to improve my longevity, but we eventually decided that eating a cup of blueberries every morning wasn’t enough.

Testing for the “Breast Cancer Gene”

So, in January 2006, when I was 34, my husband and I met with a genetic counselor to determine whether or not I should be tested for a BRCA mutation, otherwise known as the “breast cancer gene.” A simple blood test is all that was required and then I would know for sure if I really was walking in my mom’s footsteps. I gave the counselor a very detailed family history and she charted the incidences of cancers in my family on a family tree. Based on the pattern of cancers in my family and the types of cancers she agreed it was appropriate that I be tested. My blood was drawn and the sample sent off to a lab out of state.

A few weeks later, on the date of my third wedding anniversary, my husband and I went in to learn my test results. Although I knew that a positive test would not mean that I had cancer, I was still nervous. We were brought into a room with the genetic counselor and a genetic oncologist. The second that we sat down, with a big toothy grin, the counselor informed us in exactly these words: “Well, let’s not beat around the bush…you’ve got it! You’ve got the gene! You’re Bracka-positive!” You would have thought I had just won an Academy Award. Can you imagine? I paused, looked at my husband to see if I was missing something, and then turned to the counselor and asked, “Are you telling me that I have the breast cancer gene?”

“Yes,” she said.

And then I cried.

When I composed myself, it was explained that I had a genetic mutation in the BRCA2 gene. The mutation is called 6174delT, meaning that at position number 6174 in the BRCA2 gene, there is a deletion of the nucleotide thymine. This mutation causes the gene to produce a protein that cannot effectively regulate cell growth, division and/or the integrity of the genetic code. I was informed that while not everyone with a BRCA mutation develops cancer, there are increased risks associated with the BRCA2 mutation. In short, over my lifetime, my risk of breast cancer could be as high as 87% and my risk of ovarian cancer could be as high as 27%.