As I shared with Erica Rimlinger, when my sister was diagnosed with stage 2 breast cancer, it shocked both her and our entire family. She was healthy, young, in her early 40s, with no family history of breast cancer. The initial shock was followed by more scares that impacted the whole family. Due to her age at diagnosis, her medical team recommended genetic testing, including for BRCA gene mutations associated with breast, ovarian, and prostate cancers. She tested positive for a BRCA2 mutation, prompting other family members, including my mom and me, to also get tested. This revealed that 11 of us had the mutation.
At the time, I was 37 and nursing my baby. It was a challenging period where I learned the importance of early and frequent mammograms, as I had to stop breastfeeding for accurate results. The mutation not only increased the risk of breast cancer but also ovarian cancer, which is difficult to detect. Despite the complications in my plans, genetic testing empowered me to make informed decisions about my health and take steps to mitigate risks before any medical emergencies arise.
My sister, however, was not as fortunate. She only discovered her BRCA2 mutation after her cancer diagnosis. My mother, who had regular mammograms, now alternated them with MRIs every six months. Just months after my sister’s diagnosis, my mother was diagnosed with stage 0 breast cancer. It was a wake-up call for her, leading to a treatment plan that included surgery to remove her ovaries and fallopian tubes.
Amidst supporting my sister and mother through their treatments, I faced my own medical decisions. Concerns about when to have a second child and the implications of my genetic mutation weighed heavily on me. I made the choice to have a double mastectomy, revealing stage 0 cancer, providing me with a pathway to treatment before it progressed.
Following the birth of my second child, I underwent a salpingo-oophorectomy to eliminate the immediate risk of the BRCA2 mutation. While the recovery was daunting, knowing my genetic status empowered me to make proactive choices for my health and family planning.
We may not choose our genes, but we can choose to understand what they tell us. Our family’s journey with BRCA2 mutations and breast cancer may have brought shockwaves, but it also strengthened our relationships and empowered us to make informed decisions for our health. Awareness and genetic testing have been crucial in our journey, allowing us to take control of our health and preventive care options.
If you have a real-life story to share as a woman, visit beBRCAware.com for information on genetic testing and its role in cancer risk assessment and treatment decisions. This educational resource is supported by AstraZeneca and beBRCAware.com. Share your experiences to empower others on their health journey.
