Learning BRCA

It wasn’t until Mom had a recurrence in 2001 when she read about BRCA mutations. Her recurrence was in the opposite breast, completely unrelated to her first breast cancer diagnosis in the early 1990’s, when she had a lumpectomy followed by chemotherapy and radiation treatment. Linked to Ashkenazi Jewish ancestry, she found reasoning within her BRCA research to get tested for the mutation. The information was still new, but luckily having a PHD in Library Science, she was able to obtain the information needed that lead her towards the decision of testing for it. She was in her early 50’s at the time and did in fact test positive for BRCA1 mutation.

She informed me about being BRCA when I was 25. She knew the chance of passing the mutation down to my sister (who was only 17 at the time and tested at 19), or I, was 50/50, and if I did in fact carry the mutation, thought 25 would be a good age to start getting baseline screenings (mammographies, sonograms and MRI’s).

We met with a genetic counselor who briefly explained what it meant to carry the BRCA mutation, but sadly, having a Mom who had breast cancer twice, both times needing chemotherapy, and a double mastectomy and oophorectomy after her 2nd diagnosis, I knew exactly what having this mutation meant. I didn’t have to read any statistics (which indicate by the way, chance of breast cancer over one’s lifetime with BRCA1 mutation is 80%).

I waited an anguishing few weeks for my results to come in and the news was unfortunately my worst fear come true, positive for BRCA1 mutation. My Mom was sitting next to me at the appointment and I completely broke down, sobbing on her shoulder. It was 2005 and again, I was only 25 years old (my sister tested positive at 19 years old). The question we had for the genetic counselor, what comes next? What should we do?

Hindsight my BRCA sisters is 20/20….

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