By Natalie Platzkoester Pavlak 
Last year on Halloween, I got a positive pregnancy test. I wasn’t shocked, but I also wasn’t necessarily “expecting” it. It was a welcome surprise for our family. This would be our third baby girl in four years, and I was excited to continue adding to the beautiful chaos that fills our home.
About a week before Christmas, I got another positive test. This time, while again not shocked, I was less excited with this positive result. It was for a genetic cancer mutation that runs in our family. My breast specialist had “highly recommended” I do genetic testing for a breast cancer mutation, as breast cancer has taken young lives of women in my family in each generation. My great-grandmother battled breast cancer; her daughter, my grandmother, fought it twice and eventually lost her battle; most recently, my aunt had a very long battle that eventually took her from her family as well. All of these women were considered “young” at diagnosis, and thanks to my aunt’s genetic testing results, my specialist knew what to look for—the Chek2 mutation.
At 30 years old, after the birth of my firstborn, I noticed breast changes that didn’t seem to be solely hormonal or related to breastfeeding. Both my OB and family practitioner said it was likely just hormones and I should focus on my baby.
I couldn’t.
I knew something felt different for me. After some pushing, I eventually got a referral to a breast specialist from a nurse practitioner in my doctor’s office. They listened to my family history and the fact that my aunt had tested positive for a gene mutation, and they were diligent and “aggressively monitoring” my symptoms. At 30 years old, I was able to begin mammograms and breast MRIs covered by insurance because a specialist said it was warranted due to that history.
At 34 years old, during one of those routine visits, we weren’t able to do the MRI because I was pregnant…again. This is when he decided to actually do the genetic testing because it was a simple blood test. When his office called the week before Christmas, it was him, not a nurse. I knew that meant it was positive—I didn’t even need him to say it—but of course, he did. I could tell he was worried; he tried to reassure me that I should just enjoy my pregnancy and call back and get in as soon as she was born. He told me to expect calls from a specialist outside of his office, though, just to get rolling on a “plan.”
A genetics counselor called me within minutes and explained it more in depth: my mutation puts me at a 70 percent lifetime risk of developing this type of breast cancer. Most women in our family get their first diagnosis in their 40s-50s. I’m 34. The average woman has a 10-12 percent lifetime risk; my blood test result puts me at 70 percent. I’m more likely to get cancer than not.
When we hung up, I immediately called my mom. She lost her mom and sister to this, and telling her I have it as well was difficult. I spent a solid 30 minutes hysterically crying on the phone, staring at my kids, telling my mom I didn’t want to die and leave them motherless, they’re too young.
She listened, she cried, she told me to call my husband and try to stay calm. I called him and my sisters, and had essentially the same conversation three more times.
I finally cried myself out and got back on the phone with the counselor. She’s been available for me ever since to answer any questions I’ve had. I’ve been given three options:
- Let it play out and take my chances.
- Intense monitoring, alternating MRIs and mammograms more often to hopefully catch anything as early as possible.
- Have a prophylactic double mastectomy to bring my cancer risk down to 2 percent.
I’ve been referred to an oncologist, a breast surgeon, a genetic counselor, etc. It’s been a whirlwind of emotions and education, all while trying to enjoy a pregnancy and not think every morning I wake up, “Is today the day? Do I have breast cancer now?”
The counselor refers to me as a “previvor”—that stressed me out too—but I figured if anything, I need to take that word and help spread awareness about it. While we all have a risk of getting cancer in our lives, if you have hereditary cancer of any sort in your family, push your doctor for genetic testing. It could quite literally save your life, or the lives of your loved ones. My three girls each have a 50/50 shot at having this gene. When they’re 18, they’ll be tested and can proceed how they see fit if they have the mutation. I pray they all three somehow avoided inheriting it.
I’ve reached out to a handful of people I know who have had breast cancer in their 30s and 40s, just for some guidance, and that has been somewhat calming for me. But, the biggest part of my decision will be influenced by thinking about my grandma, my aunt, and our family’s struggle watching their battles end so heartbreakingly. I ask myself what my grandma would have done with this knowledge—same with my aunt had she known sooner—and that has really helped me decide which route to take.
While there is still no cure for cancer, the influx of research on genetic testing in the last 10 years is phenomenal. So while I don’t have breast cancer right now, there’s a very high chance I will in the next 10 to 20 years, and I’ve come to terms with that.
If hereditary cancers of any kind run in your family, please advocate for yourself, push your doctors for testing to try to get ahead of things if necessary, or find a doctor who will.
I realize one way or another, I’ll likely have to allow my genetics to get the “breast” of me, but I’ll do everything in my power now to let it get the best of me.
Schedule those mammograms, ladies.
Originally published on the author’s Facebook page
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