Summary
Overview
Jackie Tohn returns to Armchair Expert to share her journey through discovering she has the BRCA1 gene mutation, which carries an 85% chance of developing breast cancer. She discusses her decision to undergo a preventative double mastectomy, the emotional and physical recovery process, and her mission to raise awareness about genetic testing. The conversation also touches on her career perseverance, anxiety management, and finding perspective through medical challenges.
Discovery of BRCA1 Gene Mutation
Jackie's father discovered lumps under his arm that turned out to be metastatic carcinomas. When doctors tested him for genetic mutations, he came back positive for BRCA1, a rare genetic mutation that significantly increases cancer risk. This discovery led Jackie to get tested herself, where she learned she had an 85% chance of developing breast cancer and 65% chance of ovarian cancer. The diagnosis transformed her summer vacation plans into a tour of Los Angeles medical offices as she assembled a team of specialists.
- Jackie's father found lumps under his arm that were metastatic carcinomas, though doctors still can't find the original cancer site
- Her father tested positive for BRCA1 mutation, which is extremely rare in the general population (0.2-0.3%) but affects 1 in 40 Ashkenazi Jews
- Jackie tested positive and learned she had 85% chance of breast cancer and 65% chance of ovarian cancer
- The genetic counselor's numbers made the decision clear - the statistics were too high to ignore
" With my neuroses and my mental shit, you're giving me a number like 45? I'm going. I could go crazy. I could do advanced screening for years. But 85? I get chills every time. "
" Glass half full is 85 is a number that you can't ignore. "
The Medical Journey and Surgical Decision
Jackie describes the overwhelming process of navigating her diagnosis, which involved meeting with five different doctors and making countless decisions about her surgery. She underwent extensive MRIs and biopsies before the mastectomy, including a frightening moment when she started bleeding after a biopsy. The experience taught her she was far more resilient than she imagined, as she moved through each step with machine-like determination rather than the anxiety she expected to feel.
- Jackie needed five different doctors: gynecological oncologist, regular oncologist, breast surgeon, breast plastic surgeon, and genetic counselor
- She had multiple MRIs and biopsies, including one that resulted in unexpected bleeding that required emergency restitching
- The waiting period between tests was worse than the actual surgery and recovery
- During surgery, doctors found pre-cancerous cells in her breast tissue, validating her decision
" Someone handing you a nail and being like build the house and you're like who when yeah where is the plot of land. Where's the word? How? "
" I am a machine who handles things. I just did it. Looking back, I don't even know how I did it. I just was like, these are the doctors I'm going to and I am getting these surgeries and I am doing this. "
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