26 and At Risk - Diagnosed with the 'Breast Cancer' Gene
A Family History of Breast Cancer
When I was between 2 and 3 years old, my mom was diagnosed with breast cancer at the age of 41. Over the next few years my mom would undergo various treatments, multiple surgeries, and countless painful moments. She had a lumpectomy, a single mastectomy, breast reconstruction, and finally a hysterectomy due to fibroids. You’re probably lost at this point, don’t worry I was too. All I know is, she was an incredibly brave woman and was said to have handled every surgery with grace.
Because I was so young, I don’t remember much from that time. But I can vividly remember walking the halls of a hospital to visit my mom - I couldn’t have been older than 3 or 4 years old. My sister believes it was to see my mom in recovery after one of her breast surgeries. My mom would pass away 13 years later from what we believed to be Early-Onset Alzheimer’s. She was an incredible woman.
While my mom did not have the BRCA mutation, her sister, my aunt, does. My aunt Donna was also diagnosed with breast cancer and underwent a double mastectomy and a full hysterectomy, ovaries and all, at the age of 45. My sister is thankfully negative.
—> So many medical terms, stick with me, it took me a while to get them all right!
And then there’s me. At the age of 25, shortly after my dad was admitted to hospice in 2017, I got the call. I was positive for BRCA2.
I thought I was prepared for that call. But I found myself unable to speak as I silently cried in the car, my doctor apologizing profusely over the phone. I think part of me always knew I was positive for the mutation, but I still couldn’t swallow the reality of hearing, “Susan, you are positive”.
What exactly is BRCA? (pronounced BRACA)
BRCA is the acronym for the BReast CAncer Susceptibility Gene. Everyone has the BRCA gene, however some people have a mutation on the gene, drastically increasing the risk for breast, ovarian, and other types of cancer. A healthy BRCA suppresses tumors and with a mutation, cells have the risk of unchecked growth.
This mutation can be inherited by either of your parents with a 50/50 shot of passing it down to children. In my family tree, my aunt inherited the gene from her father and the same goes for me. Both of them carried the BRCA2 gene. Certain ancestral backgrounds also have a higher prevalence, particularly Ashkenazi Jew heritage (central European descent) and that’s me!
DISCLAIMER: Having a mutation on the BRCA gene does NOT mean you will develop cancer. It simply means the risks are much greater throughout your lifetime than the average individual.
Let’s talk about tests, baby
Testing for the BRCA mutation is recommended around the age of 25. But y’all, these tests can be EXPENSIVE. Thankfully, there are laws now that require insurance companies to cover the cost if an individual meets a certain criteria for risk. This includes your family history and other factors. I highly recommend talking with your doctor about your family history with cancer to find out about the testing options available to you.
Once it is confirmed that you carry a BRCA mutation, so begins your love affair with various doctor’s offices and medical terms. In addition to self-exams and practicing good skin care, it is recommended for women to undergo the following preventative exams at least once a year, if not every six months:
Clinical Breast Exams
Annual Well-Woman Exams
3D Bilateral Mammograms
How My Test Results Affect Me
For me, I’m at a specialists’ office about 3 times a year; my breast specialist, a radiology clinic for my mammograms, and my gynecologist. This year, I’m also undergoing additional MRI style testing, so make that 4. I am SO blessed in that being young, healthy and active, I’m able to get away with having each of these exams only once a year.
So far, all of my testing has come back clean and negative of any growths or questionable results. But I’ll be real with y’all, the first time I walked into the breast specialist office and looked around, to realize I was the youngest one in the room, I cried.
My dad had passed away about a month after discovering I was a carrier for BRCA2. And while he made sure to instill hope and faith in me that everything will be okay, I can promise y’all I was terrified. All I wanted was a parent, someone, to be there with me. Since then, I’ve gotten a little more comfortable with my various doctors and I’ve been able to schedule my appointments with some predictability, thank God. Having to learn to navigate the healthcare system alone, while grieving the loss of a parent, and learning you have a high risk of developing cancer, is NOT fun.
On top of allllll that, a woman’s reproductive issues become a topic of conversation way sooner than many of us plan. Annual testing is just one of the many preventative measures that are taken with BRCA mutations. The recommended course of action for women, is to undergo surgery to remove their breast tissue (mastectomy), as well as their uterus and ovaries, either when you are done having children, or when you decide is the best time for you (recommended no later than 40). Then there’s the breast reconstruction to follow from the breast removal.
So, I’ve had to start taking a good hard look at myself and begin thinking about having children of my own one day, when that might be, and how I want to have them. And I have justtt a few surgeries ahead of me to think about.
Whew. Let me take a second to catch my breath. It’s a lot, isn’t it? I know it was for me. I was drowning already in taking care of my dad, coming to the realization he wouldn’t be with me much longer, working full-time, trying to maintain my sanity, and then BOOM - in walks BRCA2.
Initially, it was almost overwhelming. And I won’t pretend that it still isn’t a lot when I lay it all out like this. But, it has become manageable. I’ve found it is possible to gain some control over your medical care and no longer be scared to walk into a specialist office alone for the first time.
In the words of my incredible gynecologist:
Discovering you are a carrier for a BRCA mutation is not the end. Discovering you are a carrier DOES NOT MEAN you are damaged in some way. Discovering you are a carrier allows you to beat the disease before it even thinks about attacking you. It allows you to take steps to staying healthy and sticking around longer for your family and friends. Being a person of faith, I believe we don’t have control over everything. But I do believe we are blessed with choices, medical advances, and information that allows us to take better care of ourselves and be there for those we love. I’ve been made to feel like less of a person, of being tainted in a negative way, for having a genetic mutation that is OUT OF MY CONTROL. BRCA2 will not hold me back from living the life I have dreamed for myself. And it will not beat me.
So in honor of Breast Cancer Awareness Month, I urge you, please - go get tested!!
I’d love to connect and talk more about being BRCA2 positive, so please feel free to reach out to me via social media. If you’re looking to learn more about BRCA, I recommend scheduling an appointment with your doctor, discussing your family history, and checking out breastcancer.org for more information!