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Education > Our Blog > Learning about My Mother’s PALB2 Mutation was a Gift to Our Family
Learning about My Mother’s PALB2 Mutation was a Gift to Our Family

January 13, 2023

Learning about My Mother’s PALB2 Mutation was a Gift to Our Family

by Kristina Smith

I am a mom, wife, sister, granddaughter and friend. In June 2021, I discovered that I am also the carrier of a PALB2 gene mutation.

My mom’s hereditary cancer journey provided life-saving information

Mothers often say that they would die for their kids. I feel that my mother died for her children so that we could all survive. In 2010 she was diagnosed with hormone-positive breast cancer. Fortunately, it was caught early, and after radiation and a lumpectomy, she had no evidence of disease. Back then, no one recommended genetic testing to her. That was not the case in November 2020 when she was diagnosed with her second breast cancer. By then she had experienced the graduations and weddings of all her kids and the birth of her first four grandchildren. This cancer was an aggressive triple-negative tumor in her opposite breast. Sadly, it was diagnosed at a terminal stage.

This time, my mother had genetic testing. Her results showed that she had inherited a mutated PALB2 gene. My lovely mother passed away unexpectedly fast, just two days short of her 65th birthday, half a year after her diagnosis.

The following month I met with a genetic counselor who directed me to the FORCE website and the Canadian Cancer Society (I live in Canada). I soon had my own genetic testing, which showed that I had inherited the same PALB2 gene mutation. My siblings were tested soon thereafter. All of them carried the same mutation, but my maternal grandmother and my mother’s siblings did not. This meant that my mom inherited her mutation from her father. With no family history of breast cancer, without my mother’s second breast cancer diagnosis, she would never have had genetic testing and we would never have known that she carried—and passed along—our family’s mutation.

Finding hope and help on the FORCE website

For three months, I read through the FORCE website and any other relevant publications I could find, researching all things pertaining to mastectomy and reconstruction choices. By the time my genetic counselor called to tell me she had placed me on the waitlist to speak to a doctor, I knew what my choices were, and I advocated for myself. I skipped the meeting with the referring doctor and asked my genetic counselor to refer me directly to a breast surgeon and a plastic surgeon. 

By December I’d had a preventive double mastectomy with immediate breast reconstruction—tissue expanders placed under the chest muscle to make room for breast implants. I’d started a personal blog of my journey, and I had returned to creating my self-care art with a focus on breasts. I started posting my art on Instagram (Kristina's art on Instagram) with each piece intended to help educate others. My artwork has been published in an anthology of breast cancer, previvors, survivors and caretakers; all proceeds are donated to metastatic breast cancer.

Looking Toward the Future

I was given the knowledge of my genetics, which I see as a privilege. Knowledge is power, especially when it can save your life. As a mom, I’d do anything to save my kids' lives, and to live longer to have more time with them. So here I am—looking out for the future Kristina and the generations that follow.

Posted in: Genetic Testing , FORCE And FORCE Impact , Emotional Health And Well Being
Tags: Hereditary Cancer , Breast Cancer , Genetic Counseling , Genetic Testing , PALB2 , FORCE , Coping With Risk

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