The BRCA1 Gene {How Testing Positive Potentially Saved My Life}

I am a healthy person.

I work out 4-5 times a week. I am a fitness instructor, personal trainer and teacher. I always knew I had a chance of getting cancer as my mother and maternal grandmother both had breast cancer and both at a considerably young age. I honestly thought that if I was going to have cancer, it would have happened by now since I had passed the age at which my family members had been diagnosed. It was something that stayed in the back of my mind, but I rarely let myself spend too much time thinking about it.  

I had a mammogram in December.

They told me that I had very dense tissue and that an ultrasound was needed to see everything more clearly. The radiologist told me that looking at my breast tissue was like looking through a bag of cotton balls. Apparently it’s supposed to be like looking through an empty Ziploc bag. She also suggested I should meet with a genetic specialist. I didn’t even understand what that fully meant or what the reason was, but I went in January for my annual checkup and pap smear with my OB/GYN. After looking over my results and notes of the mammogram and carefully reviewing my family history of breast cancer, she asked if I had ever been tested for the BRCA gene. I didn’t even know there was such a thing. She then proceeded to tell me how it was a type of breast cancer gene, and not thinking much of it or that it would really affect me, I agreed to the test.

Then came the day my life would change immeasurably.  

I got a call from my OB/GYN’s nurse brca1and learned that my doctor would like to see me as soon as possible. Every woman knows it takes a while to get in to see your gynecologist, so I instantly thought I must have an irregular pap smear. NOTHING could have prepared me for the information she had waiting for me when I was called to her office. She began to explain that I had tested positive for the BRCA1 gene. My mind just couldn’t process all the information she was telling me. She explained that this put me at a very high risk for breast and ovarian cancer, and a tiny risk for pancreatic cancer.

My reaction was nothing. I WAS NUMB. I couldn’t understand what she was telling me, and I was totally confused. She looked at me and proceeded to tell me “You realize these are very high numbers, don’t you?” I just nodded, but truthfully I didn’t understand because I wasn’t processing any information. My mind was in a fog; I was still confused and in shock. I just remember staring at her and asking, “What do you want me to do with this information? If this were you, off the record, what would you do?” She replied, “I would have surgeries, because I have kids.” I began to cry. I tried really hard to process this information on my drive home. It confused me because I didn’t actually have cancer, but it appeared likely that one day I would. I just couldn’t stop thinking, “What have I done in life to have this gene?” I kept thinking, “I am so healthy, I watch everything I eat … how can this be happening to me?”

Then the research began.

After I told my husband and best friend of the news, I immediately began to research all the information I could find on the BRCA gene. My friend told me something that really made me think about it from a different angle. She said, “You are so healthy on the outside, don’t you want your insides to match?” She was completely right. After REALITY finally set in, I thought about it, yet AGAIN. My doctor and friend were right; I have KIDS, and they rely on me daily for everything. I am their everything, and they NEED me. It finally just hit me like a brick; I need to have a double mastectomy so that I can be there for them as long as possible.

I began researching doctors through my physicians, the internet, and people who have gone through similar surgeries. As I began telling people my news, doors began to open and a huge and wonderful support system grew around me. After a long search that included interviewing multiple surgeons, I found my general surgeon who would perform the mastectomy portion and the plastic surgeon who would perform the reconstruction portion (insert silicone implants in place of all the tissue being removed). I have been very blessed to have been placed in the hands of such world renowned surgeons. I am eternally grateful for all of the people who helped me arrange the best team of surgeons who are collaborating to keep me healthy. After meeting with my general surgeon, I know that because of the BRCA1 gene, I CURRENTLY have an 80- 85% risk of developing stage 3 or 4 breast cancer. That percentage will only increase as  I get older. We’ve discussed that now is not the right time to remove my ovaries, but when I turn 40, I will undergo surgery to remove them to reduce my risk of developing ovarian cancer as well.


Five months from that insane day in January, I’m finally able to see that I am LUCKY. I get to choose to be here for my kids and prevent this horrible disease. So many women aren’t this lucky. I don’t want to have to fight for my life and have my kids watch when the results might be tragic. I don’t want to have to be a survivor if I can prevent it. I am a PREVIVOR. I want to to use this situation to help others who were like me and didn’t know this gene existed and encourage others to get tested who could potentially be at risk. It doesn’t make preparing for this surgery any easier, but it does make me at peace with my decision.

As my surgery approaches early tomorrow morning, I am emotional as I prepare for one of the hardest things I will ever do. I told my 11 year old daughter that her mom was undergoing surgery that will potentially be saving her life. What I didn’t tell her is that she and her little sister may potentially be carriers of this gene as well. So, I will still go to bed tonight like I do every night, with a positive mind and confident attitude knowing every little thing will be okay … and that tomorrow I will no longer be at risk.

Tomorrow is a gift; I want a lifetime of tomorrows.

About Rachel

Rachel lives in New Orleans with her husband and two daughters.


  1. I recently tested positive for the BRCA1 gene and will be undergoing a prophylactic mastectomy as well. I wish more women would get tested!

  2. Can I ask the cost of such surgeries? We barely get by at times and my wife has the gene and is nearing 40.

    • Hi Gregory,

      A Certified Genetic Counselor would be ideal for you to talk to…there is even telephone counseling if you are in a remote area or this is more comfortable for you. A Certified Genetic Counselor (CGC) is the most qualified individual to answer your genetics questions. More than that, they know the ins and outs of insurance and coverage.

      To find a CGC go to:
      The National Society of Genetic Counselors: http;// type in city or zip and the specialty drop down to pick is cancer. Many have email addresses right there so you can email them.

      Amy Byer Shainman
      The BRCA Responder

  3. Hi Rachel,

    Thank you so much for writing this.

    Paying it forward and continuing to be so open about your own experience will most certainly save lives.

    I am passionate about getting others to understand the importance of Certified Genetic Counseling in the genetic testing equation. This is heavy, intricate, and important information. Pre-test and post-test genetic counseling with a CGC is optimal.

    The National Society of Genetic Counselors to find A Genetic Counselor near you: OR (type in city, zip, and specialty drop down is cancer).

    Warmest Regards,
    Amy Byer Shainman
    The BRCA Responder
    Advocate for those with BRCA & other hereditary cancer syndromes
    Executive Producer – Pink & Blue: Colors of Hereditary Cancer

  4. Just found out I have BRCA1 and it is so shocking to me?! I’m only 30 just married in the last year, plans of kids but scared. Thank you for sharing your story with the world 🙂


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