“In 2011, my paternal aunt was diagnosed with ovarian cancer at an unusually young age. Genetic testing was done, and that’s when we found the BRCA1 mutation is in our family history.
It makes sense, unfortunately. My paternal grandfather has breast cancer like the plague among his sisters, nieces, and extended family. My paternal grandmother’s side has a history of ovarian cancer. We don’t honestly know which side of the family our mutation comes from, but our history is deep.
I have known about the BRCA1 mutation since 2011 and in 2013, I met with my genetic counselor from the Ferre Institute in Binghamton, NY.
My counselor went over every little detail about the BRCA1 mutation and what it meant for me, my future, and my life. I heard words like higher risk, breast cancer, ovarian cancer, removal, surgery, genetic testing. And I heard, when you’re ready. At 28 years old, with a 15 month old son.. what does when you’re ready really look like? I guess it looked a lot like pre-screenings, you know – being treated as if I was BRCA positive, without knowing the truth.
In June 2014, I learned that I was pregnant with our second child. At 7 weeks pregnant, I was treated for an ectopic pregnancy – there was a cyst on my ovary that could have easily been our baby, stuck inside my fallopian tube. The way I felt in this moment is something for an entirely separate blog post. My husband and I spent an entire day in the Emergency Room – bloodwork, methotrexate, exhaustion, depression. All of it.
Six weeks later, I had a follow up appointment. That cyst? Still there. It wasn’t my baby after all. At this point, I still did not know I was BRCA1 positive. My doctor called me. He ordered a CA125 blood test, which is the Cancer Antigen test that looks at elevated levels for cancer. I remember the exact moment I got the call from my doctor. Amber, you’re CA125 level is slightly elevated. I’m going to refer you to an Oncologist through the University of Rochester. I’m sorry, what?
I was driving home from work. I pulled off to the side of the road and asked all of my questions. I remember telling my husband about that call, via text. Because at this time, we were just getting our feet wet with our marital mess.
My next step – go talk to my new doctor, the oncologist. I scheduled the appointment. I went to the appointment – without my husband. My dad and step mom went with me instead. I remember talking with my new doctor and needing another ultrasound. At the end of this appointment, I had no choice but to be tested for the BRCA1 mutation. The results would determine how to move forward.
I called my genetic counselor and told her, I’m ready. She submitted documentation and a little box through Myriad came in the mail. I took the kit to the lab, they drew my blood, and off it went. In the little box, back to Myriad. I waited for my results.
In the midst of this, I ended up pregnant with our daughter (who is now 4 years old). It was unplanned, unexpected. But you know, God always has a plan.
You know the results. I tested positive for the BRCA1 mutation in the fall of 2014. At the beginning of my pregnancy, in the early stages of our marriage struggles. I tested positive. My cyst stayed with me throughout my pregnancy with our daughter. After her birth, I had follow up appointments and ultrasounds. I was referred back to my oncologist in Rochester. I received a phone call letting me know that everything was fine. About a week later, I received a voicemail from my oncologist’s office, Amber I’m calling to let you know that Dr. Thomas would like to move forward with surgery. Please call our office back. I cried. This phone call happened, not long after I started a brand new job, after my maternity leave. In the middle of the dark trenches of my marriage. I returned the phone call. My oncologist, Dr. Thomas, wanted to schedule surgery because my cyst was concerning to her. She wanted to test it for cancer.
I had a left unilateral salpingo-oophorectomy in November of 2015 and thankfully my pathology report was benign. Since then, every 6 months I have pelvic ultrasounds to monitor my right ovary and fallopian tube and once a year I have a CA125 blood test.
My BRCA1 mutation puts me at a 60-70% higher risk for ovarian cancer, but also puts me at an 80% higher risk for breast cancer. On top of monitoring my ovary, every year I have a breast MRI, ultrasound, and mammogram for pre-screening. This way, I can detect cancer early. My doctors have told me that age 35 is my ‘magic number’. Going into my 34th birthday, back in March of 2019, I knew that I had some decisions to make. It took me years of talking with my medical professionals and educating myself on my BRCA1 mutation to make a very difficult decision.
In less than 72 hours, I will have a prophylactic double mastectomy. I remember scheduling my surgery back in April, thinking August is so far away. But our time goes by so quickly. The anticipation has been eating at me. My emotions have taken total control.
This is where I’m at. This is how I got here.
My aunt fought a battle for us. God chose her because she was strong and brave – to fight so that our family can be proactive and take control of our health. She fought so that we can take preventative measures.
Knowledge is power only if you do something with it. I have the knowledge about the BRCA1 mutation. I know what can happen if I don’t use my knowledge. I am BRCA1 positive. I know what it means.
For me, it means that I will live the rest of my life knowing that I did everything I could to lower my risk of breast cancer. So that I can educate my children on this mutation. So that I can be here, with my family”.