I Have a Genetic Mutation and I’m Choosing Gratitude


2020 and the first half of 2021 hasn’t been easy for most folks. I’m thankful I didn’t lose my job; however, virtual learning with one of my children took a toll on my mental health. Throw in caring for my divorced and living-alone parents (one with a newly broken leg and one with a fresh, new, cancer diagnosis) made me stretched even further.

When my father was diagnosed with cancer, it was suggested by his cancer team that he get genetic testing done to see if there is a genetic component that drove his diagnosis (which could potentially drive my future and health as well).

After the blood draw, it was 4 weeks of waiting and 4 weeks of constant questions in my head. Will my dad show positive for any genetic mutations? If he is positive, will I be positive too? If I’m positive, what does that mean for my future and the future of my daughters?

I have to say – the science behind the testing is amazing. Over 80 genes are tested for mutation and the test can focus down to the chromosome for impacts.

Unfortunately, my dad did receive a positive test result for one of the genes tested. That positive test result means that my sister and I both have a 50% chance of having inherited the same genetic mutation. If I’m positive, then both my children have a 50% chance.

I chose to get tested. Not just for me, but for my children. I feel it is my responsibility to arm my children with knowledge and I cannot do that if I do not know my results.

As luck would have it, I also tested positive for the same genetic mutation. What that means for me is this: I have an increased risk of both breast cancer and colon cancer. My colon cancer risk is increased to 10% (“normal” folks’ chances are 4% risk); my breast cancer risk is increased to 30% (“normal” women’s risk is at 13%).

Due to the doubled risk of breast cancer, I now have an established presence at a high-risk breast cancer clinic. When I hit 40, I will have to go in for mammograms yearly, and breast MRIs every 6 months. I will also have to start colonoscopies at age 40 (moved up from the new recommended age of 45).

My emotions have been all over the place after receiving this news; however, I am choosing to focus on gratitude, prevention, and early detection. Gratitude for having a window into my health that many people do not have. Had my dad not been diagnosed with cancer, I would be walking around with this increased risk and no prevention methods or monitoring plans in place.

Because of how young my children are, I can’t (and won’t until much later) tell them about this genetic mutation. Per the guidance of my genetic counselor, I should not tell my daughters’ pediatrician and the girls should not get tested until their mid-to-late 20s.

I have to admit, knowing this big boulder of info and keeping it a secret is not ideal; however, I do not want to cause unnecessary emotional strain for my children. Knowing how this test and the result affected me at 37, there is no way I would put them through that any earlier than necessary. While it’s a blessing to know this information so I can arm myself appropriately, it did make me question if I should change how I’m saving for my retirement and made me question if I’m living life the way I truly want to be. How a 20-something or younger person would handle that news versus a late 30s woman who has met many life goals already, would be totally different.

Science is amazing and so is living your life to the fullest. Maybe scientists will have cures for these cancers by the time my children are old enough to get tested; maybe not. There are no crystal balls to tell me if I’ll get diagnosed with cancer or not; so for now, I will focus on following my heart and practice being mindful, grateful, and appreciating life’s blessings.

This post is shared anonymously to protect the identity of this guest contributor and her family.


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