Angela’s Corner: Genetic Testing

IMGP9990I am the middle child, split between an older sister and a younger brother. With news of my first diagnosis of pre-cancer, I began pestering (like any sibling would) my sister.

“When was your last mammogram?”
“Don’t you think it’s time to schedule another?”
“There has to be a family gene here, don’t let cancer sneak up on you.”
“Do something, and do it now!”

My sister, bless her heart, would allow me to ramble and badger her as much as I could. In the meantime, she was working on scheduling her own appointments to start the process. First, she needed an appointment with her primary care physician, who would refer her to a breast doctor. From there, they would develop a monitoring plan. For me, this couldn’t come soon enough; I wanted my sister to be checked out yesterday. And, with a Stage 3 diagnosis only a year after my Stage 1 diagnosis, I was glad she made the decision to start the process because of my experience. I only wished the news would have been better for her.

Due to my invasive diagnosis, my mom spoke to her oncologist and it was decided she should look into gene testing for the BRCA genes. My grandmother, having all three types of breast cancer since she was fifty-one years old, has had the testing completed several times throughout the years with negative results each time – she does not carry the gene. However, both my grandmother and mother went in together to the geneticist to discuss our cases. More testing would be recommended. Maybe this time something would show up. Unfortunately, both received negative results months later. Don’t get me wrong, we are not disappointed that we do not have the BRCA genes. We are disappointed in knowing there has to be something hereditary; we just don’t know what that hereditary factor is.

Have I been tested? No, not yet. I have been toying with the idea since my diagnosis, but knowing that both my grandmother and mother had negative results, it doesn’t leave me much confidence that I might be the one with a positive test. Once my sister was diagnosed with breast cancer, she began talking to a geneticist as well, and has even donated her blood to the cause. We’re now just waiting on the results. If another negative result comes back, our family will be looking into a study where we can leave our blood samples for extensive testing, hopefully to find a yet to be discovered gene. This family history is too strong not to have a gene involved.


Update: Since originally writing this rough draft in April, my sister Erica has received a negative result of her BRCA gene testing. A study has been recommended at a local university and contact has been made. All four of us will be sending our blood samples and questionnaire soon. This could be a long wait, but it’s a wait we are ready for.

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