What It’s Like to Test Positive for the BRCA1 Gene

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How can a decision that seems monumental become surprisingly straightforward? To understand this, let me share my journey.

I can vividly recall her laughter, the warmth of her embraces, the scent of her favorite perfume, and the way her eyes sparkled when they met mine. While I often say my choices were for my children, husband, and family, deep down, they were truly for her.

Being the first granddaughter in a long line of boys meant we shared countless adventures together. From playful modeling walks to weekends on the water, and even the sweet sound of “You Are My Sunshine” echoing in the house, our bond was magical. How could such joy not persist?

My mom often recounts how my Nana visited her doctor, insisting, “Something is wrong, please investigate further.” Unfortunately, her pleas fell on deaf ears. She fought valiantly, yearning for a hysterectomy, but no one listened. At just five years old, I learned of my Nana’s ovarian cancer diagnosis. She sensed the danger, but no one took her seriously.

Years went by, and I will never forget the day my parents shared the heartbreaking news that her battle was over. I wanted nothing more than to be by her side. Seeing her there, surrounded by love, yet so devoid of life, shattered my heart. She passed when I was nine—she was everything to me, and I was everything to her.

The loss was profound, reshaping our lives forever. In tough times, I would converse with her. When I made the softball team, I shared the news with her. I always felt her presence guiding me.

Years later, my mother gifted me a box filled with treasures from my Nana—childhood drawings from her boys, her mother’s driver’s license, birthday cards, family photos, and heartfelt letters she had penned to me since birth. She never wanted to leave our side; she longed to witness our lives unfold.

Among those letters were stories of our adventures, her reflections on my life, and her hopes for my future. At the time, I didn’t fully grasp their significance, but I knew they were important and would be invaluable later on.

Fast forward several years, and my uncle and cousin tested positive for BRCA1. My aunt urged me to get tested, but amidst raising my children, I hesitated. Deep down, I knew my fate; I think we all did. I spoke to my Nana then, promising to test but postponing it until I felt ready.

I was 31, with a little girl just over a year old. During a routine visit, my doctor suggested testing. “Sure, let me take the paperwork home,” I replied. “No, we can do it now,” she insisted. My heart raced as I realized the gravity of the moment. “Alright, Nana, I hear you!” I whispered.

A month later, the results confirmed I was BRCA1 positive. My family anticipated my next steps, and my husband supported me wholeheartedly. The decision was clear: a preventative double mastectomy was necessary. But I was overwhelmed. My children were so young—how would we manage eight weeks of recovery? Who would comfort them at night? The thought was daunting.

But I wasn’t being unreasonable; I wanted to live without fear. If my Nana had been given this choice, she might still be here today.

Within a month, I assembled my medical team and scheduled my surgery for January. I spent the weeks leading up to it focusing on my health, unwavering in my decision. Yet, reality struck just a month before the surgery. I felt fear creeping in. What would I look like afterward? How would my kids adapt? Would my husband still love me? Would I love myself?

As the day approached, I found comfort in speaking to my Nana, feeling her presence with me. The morning of the surgery arrived quickly. I showered, braided my hair, and kissed my children goodbye. My husband and I made our way to the hospital in silence, my parents meeting us there.

The registration process felt too swift. A call from my mom triggered tears I had held back for months. She expressed her fears about not attending, worried she would only amplify my anxiety. We cried together, and I reassured her it was okay. In truth, I feared that if she were there, I might falter.

As I was called back to prepare for surgery, loneliness enveloped me. But my husband joined me shortly after, embodying strength reminiscent of when I had our son via C-section. My father and stepmother arrived, and I could see the worry etched in my dad’s face. I tried to remain strong for him, not wanting him to witness my fears.

It was time to go. I hugged and kissed everyone, promising my mother I’d see her soon. I’ll never forget that walk to the surgical room, tears streaming down my face as my anesthesiologist encouraged me. I held onto my Nana’s memory tightly, her voice assuring me of my strength.

As I entered the operating room, the noise faded, and then everything went dark. When I awoke, I was confronted with a completely new version of myself.

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Summary

This article recounts the emotional journey of a woman facing the reality of a BRCA1 positive diagnosis, sharing her personal experiences, family legacy, and the profound loss of her Nana. It highlights her decision-making process regarding preventive surgery while navigating motherhood and the weight of familial history.

Keyphrase: BRCA1 gene testing

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