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Expanded Panel Testing Uncovered My ATM Mutation

May 10, 2020

Expanded Panel Testing Uncovered My ATM Mutation

by Marci Horton

In 2014, a routine mammogram found a spot in my breast, and I was diagnosed with breast cancer. I had screening at Virginia Mason in Seattle, where they had just started using 3D mammogram technology. I was told that without this type of screening my breast cancer might have been overlooked. At the time, my husband was in Australia and not able to return to the States, as we were still waiting on his green card.

I cannot thank my friends enough. They went with me to every meeting and consultation with my doctors. Neither my mother or my sister was able to attend, as flights were difficult with such short notice, but my friend Henry flew in from Colorado to join me in the first set of meetings. Because I had no family history and felt that something was not right, I asked for genetic testing. At the time, multi-panel genetic testing was not readily available; only the BRCA tests were offered. I tested negative for a BRCA mutation. I am a terrible worrier, so I opted for a mastectomy of my left breast.

In 2018 I had multi-panel genetic testing and learned of my ATM mutation. I had a preventive mastectomy on the right side after learning of my mutation.

My mother was then tested at Mayo Clinic and she was also positive. Thankfully, she never had cancer. She was raised in a rural area where there was minimal medical care, so we are not certain what caused the deaths of her family members. It is possible there was cancer in her family, but we have no way of knowing.

Upon learning of my mutation, I was in disbelief because I had never had any issues and had no family history. I looked at this very much as a work project. I understand my odds to be good and because I tend to worry, I wanted to make a decision that limited my anxiety. I researched and studied everything I could find. The cancer library at Mayo Clinic was fantastic.

Once I learned of my mutation, I found FORCE. I loved the research links that were provided and read everything I could find. I have actually found being a peer navigator to be an ongoing learning experience.  I realize in speaking with others that I was afforded a fantastic experience at Virginia Mason and Mayo Clinic. I realize not everyone has these opportunities, which is why I urge people to challenge their community medical experience to be better.


Posted in: Stories
Tags: Hereditary Cancer, Genetic Testing, ATM, Mastectomy

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