Being BRCA1

 

"I wish I was calling with better news but your test did come back positive for the BRCA1 gene mutation."

That was the call from the genetic counselor that I'd been waiting for. I think I sighed and said "OK". It was March 26th of this year. The world had just shut down due to COVID-19. Now I'm not sure there is an ideal time to find out you have some crazy rare genetic mutation that skyrockets your risk for cancer but during a national pandemic certainly wasn't it. I blame 2020.

What is BRCA1?

Over a text message, my dad told me "You need to get tested for BRCA1". What? Like Angelina Jolie? That was about the extent of my BRCA knowledge at the time.

My dad had recently been diagnosed with prostate cancer and I knew my cousins, whom I had never met, had something going on to do with cancer but I really had absolutely no idea that there was a possibility it could affect me. I definitely didn't know what BRCA1 was and what it meant if I was positive.

Well, I can tell you that have learned quite a bit about it all since. After coming to terms with the fact that this mutation does NOT make me one of the X-Men (my 9-year-old son was super bummed about that) I started researching the facts. 

Here's what I've learned. Everyone has the BRCA1 and BRCA2 genes which suppress tumor growth. If you have the gene mutation (about 1 in 500 people do) they don't work correctly and basically open the gates for a cancer tumor growth party in your body. For me, my sister, and cousins, it means that by age 70 we have up to an 87% chance of getting breast cancer and up to a 63% chance of getting ovarian cancer. For the rest of the population, those numbers are 7.1% and .7%. You can learn more at BRCA Mutations: Cancer Risk and Genetic Testing.

Getting tested.

My sister and I 100% believe that our cousin saved our lives. 5 years ago, after being diagnosed with breast cancer and looking back into her family history my cousin's doctor recommended she get tested. She did and told her family members. When my dad was diagnosed with prostate cancer last December he mentioned my cousin's positive test and was tested also. Then my sister and I, after speaking to a genetic counselor, got tested as well. We are both positive.

Other than my cousin's diagnosis, we actually do NOT have a strong family history of breast cancer. Looking back into our history we know that my grandmother died at 42 from cervical cancer and my great-grandmother died from what they think was stomach cancer but now that we know about the BRCA1 mutation it's not a huge leap to assume that she might have had ovarian cancer that spread. Still, these aren't glaringly obvious signs that we should get tested. The family history that prompted my cousin to get tested was on her mom's side and she was surprised to find out that the gene was passed down from her dad, my dad's brother. 

If it weren't for the doctor who recommended this test to my cousin I might not have known until it was too late.

Should YOU get tested? 

No one can answer that question for you but there are some great resources that can help you make that decision. I can say that it's worth looking into even if you don't have a family history of cancer. Check out Understanding BRCA and HBOC > Should I get tested? from FORCE to learn more.

PSA: Ancestry tests like 23andMe do not count as genetic test for this mutation. You need to talk to a doctor.

The GREAT news

Although it's nothing I ever expected to deal with, especially at 38, I can say that knowing that I carry this gene mutation is truly a gift. It's like looking into the future and seeing the very real possibility of dying young from cancer and being able to stop it from happening. Because I know, I can take steps to drastically reduce my risk. 

For me, this means risk-reducing surgeries. I've had one so far and my others will most likely be in January and March (nothing is ever 100% certain during COVID). But I am in control of these decisions. I don't have to just wait around to get cancer. I don't have to live with these statistics looming in the future, I can change them which is a pretty amazing gift.

Am I all sunshine and rainbows about it all of the time? No, of course not. Have I broken down in a complete and utter crying mess? Yep. But I have my friends and amazing family who support me and, through FORCE, a fantastic network of women and men who are all going through it too. I couldn't possibly list everyone who has gotten me through this crazy journey but you know who you are and I can't tell you how thankful I am for you.

Where can you get more information and support?

• Facing Our Risk Empowered (FORCE) is a nonprofit organization dedicated to improving the lives of individuals and families affected by hereditary cancer.

• The PBS documentary Inheritance is about hereditary breast cancer and its impact on three women as they undergo life-altering medical procedures in the hope of reducing their genetic risk – and saving their own lives. https://inheritance-brcafilm.com/pbs-documentary.

• Infographic: “What Every Young Woman Needs to Know About Hereditary Breast and Ovarian Cancer”

• Teleties is a cool company that makes awesome hair ties and accessories. They have partnered with FORCE and make a donation with every purchase. 

Talking to others really helps. Since finding out I have received SO much support from my friends and family. My doctors, at Kaiser, have been amazing. Everyone on my heredity cancer team has been wonderful and I am so thankful to them. I have also connected with lots of people who have helped me so much along the way. Now I hope to pay it forward. If you want to reach out please do. You can email me at kdmoura@gmail.com or DM me on Twitter @KarlyMoura. 

Thanks for reading! Please share this post and resources with others to help spread awareness about hereditary cancer.