BRCA Gene Mutation
The first time that I had ever heard about the BRCA gene was, like many, when Angelina Jolie spoke out about getting preventative surgery. I did a little bit of reading on it at the time, but never thought much about it again.
When I was diagnosed with Breast Cancer, not even a month after my 35th birthday, I was in shock. I started going over aspects of my life. I was at a good weight. In fact, I had never been as fit and in shape as I was at the time of my diagnosis. I drank socially, and never smoked. The "WHY" kept haunting me. My cancer was Triple Negative, meaning it is not fueled by hormones. Maybe I should have eaten organic. Maybe I should have had even less to drink. I needed to have a reason for it.
One day as I was meeting with my oncological surgeon, I was introduced to a woman who worked in genetics. She sat with me and we went over my family history. In fact , there wasn't much to discuss! There was no history of cancer in my family. She did a risk analysis and decided that I have a high probability of having a BRCA gene mutation due to the fact that my cancer was Triple Negative, I was young, and I was Ashkenazi Jewish. I was already a few months into chemotherapy at this point, and was scheduled to have a lumpectomy after my treatments were over. I was scheduled for a simple blood test which would tell me if I had the gene variant.
People with the BRCA gene mutations have an increased risk of certain cancers, most notably Breast and Ovarian cancers. In addition, those with the gene mutation also have a higher risk of being diagnosed with cancer earlier as opposed to later in life.
About 13% of women will be diagnosed with breast cancer in their lifetime. By contrast, 55%-74% of women who have a harmful BRCA1 gene will be diagnosed, and 45%-70% of women who have a harmful BRCA2 gene will develop breast cancer. When looking at the numbers for ovarian cancer, about 1-2% of women will be diagnosed in her life. Those with BRCA1 have a 40%-45% chance, and those with BRCA2 have 11%-18% chance.
When I received the confirmation that I had the BRCA1 gene mutation, it was actually a relief. I had my "why". My parents, my brother, and my close family members also needed to get tested. To me, knowledge is power, and I was "happy" to take one for the team if it meant that I can save the lives of those I love. I would die if my brother or one of my parents got sick. Here, with this knowledge, I was potentially saving my parents, my brother, my kids and my niece and nephew. I was good with that. The fact that my lumpectomy was being changed for a double mastectomy was a thought that needed some time to settle, but I almost immediately started researching mastectomy tattoos. I decided that it was the "badge of honour" that I wanted if I was removing my breasts. I texted my gynecologist to ask him if he would perform my hysterectomy. No menstrual periods for the rest of my life? You didn't need to twist my arm!
A child has a 50% chance of inheriting the BRCA gene variant. While I do not want either of my children to suffer, I also find solace in the fact that they will be monitored early on in life and will have control over their medical future. If my daughter ends up with the gene, she will be able to make decisions over what to do with her body - be it preventative surgery or close monitoring.
It has been three years since my surgeries. While I see my oncologist regularly, there is no need to see my surgeon for my breasts, as I do not have real breasts. I can of course develop a secondary cancer, but I have no fear of a breast cancer recurrence and therefore do not need to perform breast exams.
Do I stress about my kids and niece and nephew inheriting the gene? Not at all. When I was a child we did not know about this gene. Maybe in ten years from now when my daughter is an adult they will have a simple medication that can inhibit the faulty gene from causing cancer. If not, the kids will be equipped with a team of doctors who can help them make the right choices for their bodies.