CDH1

BRCA Gene: I Carry the BRCA1 Mutation and Wouldn’t Have it Any Other Way

I inherited my mother’s sense of humor. I inherited her love for healthcare, as we are both nurses. I inherited her love for running. She is an impressive 20-time marathon runner. I have just five under my belt…so far. I also inherited a BRCA gene mutation from her. Specifically, the BRCA1 mutation

Although I didn’t find out until I was 21 that I carried the mutation, deep down, I always knew there was a cancer bullet with my name on it. Just looking at my family history alone would tell you that. It is riddled with countless, young women who died from breast or ovarian cancers. But what my family tree doesn’t show is that these ancestors, they were strong and determined woman who suffered great pain and loss but did so as fighters. It is because of those women that I am who I am today, and I wouldn’t have it any other way.  

As a child, my mother was keenly aware that there was a lot of cancer in her family. Women were dying, and they were dying young. Her own mother succumbed to ovarian cancer at the age of 44 when my mother was just 14-years-old. My mother felt like there was a cancer bullet that was heading directly towards her, too. In my mother’s young adulthood, she pleaded with doctors to listen to her concerns about the history of breast and ovarian cancer that raged through her family. They didn’t listen. One doctor even told her, “Just be thankful you don’t have a family history of diabetes.”

brca-gene
brca-gene

At the age of 32, she was hit with the bullet she always knew was coming for her. In 1988, she was diagnosed with breast cancer that had already metastasized to her lymph nodes. She had four young children at home with the oldest being eight and the youngest being just two-years-old. Not only was she devastated, she was angry. No one had listened to her and, therefore, what she had always feared came true. But she wasn’t going down without a fight. After a bilateral mastectomy, bilateral ovary removal, hysterectomy, and eight months of chemotherapy, she survived metastatic breast cancer. In the wake of her triumph, she had an even bigger mountain to climb. She had three daughters at home with targets on their backs, me being one of them.

During my mother’s cancer treatment, she was connected with Dr. Henry Lynch at Creighton University. She presented him with a thorough family history that her and her relatives put together. They were able to trace their family history of cancer back to 1863 when their great-great-great grandparents immigrated to the United States from Poland. In a time where experts believed all cancer was caused by viruses and randomness, Dr. Lynch hypothesized that some cancers were hereditary. His colleagues quite literally laughed at him. But he was determined to prove this theory right. Dr. Lynch conducted a research study and our family was a part of it. 

In 1988, I was tested for the BRCA gene mutation at the age of five. There wasn’t even a mutation isolated yet, but our DNA helped prove Dr. Lynch’s theory right. Dr. Lynch, along with twelve competing teams of gene hunters were working to isolate a breast cancer gene. Dr. Mary-Claire King Ph.D., a professor of genome sciences and medicine at the University of Washington, was one of those gene hunters working to prove a genetic predisposition to breast cancer and is credited for being the first person to isolate the BRCA1 mutation. All that matters though is that there was an answer. My mother was right all along. The cancers that all the women in her family were dying from were hereditary. 

brca-gene
brca-gene

The BRCA gene is actually a gene every single one of us carry. BRCA stands for breast cancer gene. This gene is a tumor suppressor and it helps repair damaged DNA. If this gene is mutated or broken, for lack of better words, it may not work right and will not repair damaged DNA. Thus, tumor cells are allowed to grow out of control and cancer develops. People who carry the BRCA gene mutation are at a high risk of developing breast cancer, ovarian cancer or both cancers at a young age. There are two different BRCA gene mutations including BRCA1 and BRCA2. My family carries the BRCA1 mutation. 

The options for females who carry the BRCA mutation are pretty sparse. There are just two, in fact. I guess three options if you include denial. The primary options are surveillance or surgery. My choice was easy. I knew that every woman, except for one, in my family history that carried the BRCA mutation had developed either breast or ovarian cancer. The scariest thing was that the onset of cancers was getting younger with each generation. My great grandmother was 65 when she died of ovarian cancer. My grandmother was 44 when she died of ovarian cancer. My mother was then just 32-years-old when she was diagnosed with breast cancer. This staggering information was enough to scare the boobs right off of me.

I chose to have a prophylactic mastectomy at the age of 22. I was mentally and emotionally prepared for the surgery, likely because cancer and BRCA were already a huge part of my life. It was not a bomb that was dropped on me one day. I knew it was likely something I was going to have to do, and I spent most of my life preparing for it. I did, however, notice that most of my friends were generally confused by the entire situation. I felt very alone. How could they have understood? They were all very young and this was undoubtedly a strange situation. Oddly enough, those are now the friends who voice their envy over my perky ladies who have never, and will never, succumb to the sag.

brca-gene
brca-gene

Now, at the age of 36 I have had my breasts and ovaries removed to avoid a cancer diagnosis. I can honestly say that BRCA is one of the best things that has ever happened to me, and I wouldn’t have it any other way. It has given me a deeper appreciation for my body and my health. It has opened my eyes to what people are willing to do to save their lives. Most importantly, I profoundly understand that no one gets out of life unscathed. We will all endure pain, illness, loss, and suffering, just like those who came before us. That’s just part of the deal. I believe though, that if we choose, these parts of life will help build strong character infused with integrity, determination, empathy, and esteem. And isn’t that what it is all about? Facing fear, connecting with others, and doing what we have to do to live our best life. 

“A little reckless bravery may end up saving your life” -Henry Chancellor

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Bridget Stillwell

Hey all! I’m Bridget Stillwell and I reside in a suburb of Kansas City (baby!) with my husband Ryan and two of the best children on the planet, Penelope (8) and Abe (6). I am a Family Nurse Practitioner and I practice in bio-identical hormone therapy and primary care. I believe bio-identical hormone therapy is the way, the truth, the life. More on that another time. I enjoy, er, moderately enjoy, running and have finished five marathons. I really only run to prevent my next mental breakdown. I’m a wannabe writer. My two sisters and I have written a book titled ‘Nipples Optional’ chronicling our journey with hereditary cancers, BRCA previvorship, infertility, motherhood, marriage and everything in between. Our book is due to be released in late 2019 (fingers crossed.) Check us out on Instagram and Facebook: @NipplesOptionalMemoir. We don’t do twitter. Not enough character allowance for us!

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