After watching my mom and aunt battle bilateral breast cancer, which included chemotherapy, radiation, mastectomies and all the physical and emotional anguish that accompanies it, I learned that I carry a BRCA2gene mutation. It runs in our family.
I was told that my inherited BRCA2 mutation means that I have up to an 87% chance of having breast cancer in my lifetime and up to an 18% chance of having ovarian cancer. At age 43 I had a naïve sense of invincibility when it came to my health. “Athletes don’t get cancer!” I reasoned. Receiving this news felt like a curse! I was angry!
One of the benefits of learning you have a high risk for cancer without having an actual cancer diagnosis is that you have the luxury of time on your side. You are able to do research, interview doctors, and put together the best dream team of specialists to oversee your healthcare. As much as I hated having this mutation, I felt empowered to take charge of my health. This realization helped me channel my anger about having inherited a BRCA2 mutation into getting educated.
I purchased books, researched online, and talked with other women who were navigating a similar path. I attended a FORCE (Facing Our Risk of Cancer Empowered) meeting in Austin and to my surprise, met other women who were former patients of the same doctors I was considering. These amazing women welcomed me to the “club” and graciously allowed me to see their surgical results firsthand.
After careful consideration, I hesitantly decided to have a preventive bilateral mastectomy to reduce my breast cancer risk. It’s a tough decision to remove healthy breasts. Despite the statistics, the naïve, invincible side of me was convinced that if anyone was going to fall into the small percent of BRCA2 mutation carriers that DON’T get cancer…it was going to be me. I was terrified I might be having this surgery unnecessarily.
Thankfully, I felt an abundance of love and support going into the surgery. My amazing husband even threw me a “Bye-Bye Boobies” party complete with boobie shaped cupcakes.
After the double mastectomy my pathology report revealed a 0.9 cm cancerous tumor in my breast tissue. Due to having high breast density, this tumor was not picked up by the mammogram that I had just two weeks prior to surgery!
I am lucky and grateful to have had the gift of knowledge that my mom and aunt did not have. In my case, the breast cancer was caught early, so there was no chemotherapy or radiation needed. I dodged a bullet!
My family is not out of the woods yet, but we have certainly been empowered. My sons have a 50/50 chance of inheriting this gene mutation and they could then pass it on to their children. Since my family has discovered that we are “mutants” (smile), we have identified seven BRCA2+ family members, and there are more (mostly men and children) that may choose to be tested in the future.
What I once thought of as a curse, I now know to be a gift. I am blessed by the knowledge that I inherited this gene mutation. My mother and aunt did not have the same opportunity to prevent their cancer. Genetic testing may not be for everyone, but in the case of my family, it has given us a unique opportunity to change our future. Knowledge is power.
The rest of the story…..
Given my close call with cancer and how lucky I am to have headed it off with knowledge of my BRCA2 mutation, you can imagine how horrified I was to learn that an estimated 90% of people who carry a genetic mutation that increases cancer risk are still unaware. This equates to an estimated 1.8 million people.
How unfortunate that cancer (or a second cancer…or cancer in beloved siblings, children, cousins, etc.) is heading their way and they are not given the same opportunity that I had to catch it early or prevent it altogether. 1.8 million high risk people do not know to start early screening. 1.8 million high risk people are likely to be hit with a cancer diagnosis one day, that is largely preventable.
If you ask any cancer patient with a hereditary mutation if they wish they would have known so they could prevent their cancer, they will all tell you “YES!”
Thanks to Angelina Jolie, many people have now heard of BRCA1/2. That is a step in the right direction because now some high risk patients are approaching their doctor and requesting genetic testing. However, this is just the tip of the iceberg. There are mutations that increase cancer risk that most people on the street have never heard of. For example, CHEK2 is more prevalent than BRCA1 or 2. Similarly, Lynch Syndrome (most common cause of hereditary colorectal cancer) is every bit as prevalent as BRCA1 or BRCA2…yet most people have never heard of it.
There is much educating that needs to happen and much that can be done to prevent cancer and save lives. So I decided to become a messenger.
First, I began volunteering with a group called FORCE – Facing Our Risk of Cancer Empowered, co-leading the Austin chapter support group. FORCE supports anyone with a known mutation that increases cancer risk. This group is a fantastic resource! FORCE provides emotional support for those who are processing their “gift” of knowledge as they sift through their medical options and make decisions that are right for them. It’s also healing for those who are at the end of their decision making journey and want to help another sister along.
Next, I served as a patient speaker for a genetics company for three years, sharing my story with physicians, medical professionals, and anyone that would listen.
In 2017 I moved from “story teller” to “educator” by joining a wonderful genetics company that shares the same mission. I now sell genetic testing for a living. Although I’m paid to deliver the message, I would honestly deliver it for free!
I get the pleasure of educating clinicians to ask the right questions to identify patients at risk for hereditary cancer. I encourage medical professionals to give patients options to better understand and modify their cancer risk through genetic testing. Today I call on oncology, gastroenterology, urology, and other preventive care groups beating my drum and delivering this very important message. J I get super excited every time I see a clinician’s eyes light up, and they too choose to join the mission to uncover the 90%.
My personal journey and the thought of preventing one more cancer, are what drive me to keep moving forward every day. There are 1.8 million unsuspecting good people out there who deserve to have options to prevent their future cancer. I’m working to change lives one day at a time. When you do what you love it isn’t work at all.