Sharing My Journey: Facing Genetic Mutations with Hope and Strength

Sharing My Journey: Facing Genetic Mutations with Hope and Strength

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“I’m sorry to share this, but you’ve tested positive for two genetic mutations—PALB2 and MITF. PALB2 increases your risk for breast, ovarian, and pancreatic cancers. MITF increases your risk for renal cancer and melanoma. You’ll need to meet with specialists to address each of these risks. The medical recommendation is that, at some point, you will likely need a prophylactic double mastectomy and a hysterectomy. The timing of these procedures can be determined in consultation with your care team.”

My husband and I were floored.

Just a few months earlier, I had told my doctor that my sister—only in her 30s—had undergone a partial hysterectomy due to aggressive precancerous cells. Even though our family history was limited, my doctor took my concerns seriously (how lucky am I?!). He had me provide a saliva sample to send to a genetic testing company.

Months passed. I started to believe that “no news is good news.” Maybe I had tested negative. But clearly, this would not be the case.

When I first started meeting with my genetic counselor and various specialists, the weight of everything hit me hard. The volume and complexity of information coming at me were overwhelming. I began experiencing panic attacks for the first time in my life. I felt anxious, depressed, and unsure of what the future would hold. And yet, I also felt determined—determined to learn as much as I could and make the best possible choices to reduce my risks.

My deepest wish is simple: to be here for as long as possible—for myself, for my husband, for our two young daughters, and for everyone else I hold dear.

One of the best parts of this journey, surprisingly, has been discovering how many options are available. Navigating those choices with the help of Sharsheret made all the difference. They were more than a resource—they were a lifeline. The peer supporter I was connected with through Sharsheret was nothing short of lifesaving. Having someone who had walked a similar path made me feel seen, understood, and supported.

My journey isn’t meant to scare anyone or suggest that others should make the same choices I have. Everyone’s situation is deeply personal. But after consulting with my breast surgeon, I made the decision to undergo a prophylactic double mastectomy. I also chose not to have implants and instead opted for a DIEP flap reconstruction—a procedure that uses your own tissue, specifically from the lower abdomen, to reconstruct the breasts after a mastectomy.

Now, more than a year after my surgery, I can honestly say: I’ve never felt happier or lighter.

I’ll never have to face the fight against breast cancer. Maybe I never would have developed it. I chose not to wait and see. And now—we never have to.

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