Genetic Counseling: A Personal Account

Going through genetic counseling is an extremely personal decision. For ProMedica’s Amy Thorpe Wiley, a speech-language pathologist, wanting to know whether or not she carried the dreaded BRCA gene mutation took some time and self-reflection, even after her Stage 4 breast cancer diagnosis more than ten years ago.

After the results came back positive — she was carrying the BRCA2 mutation — Amy sat on the information, carefully planning her next steps. Already a breast cancer survivor, Amy knew that being a BRCA2 carrier increased her chances of developing ovarian cancer by 25%–a risk she wasn’t going to take any more.

We checked in with Amy just one month before her total hysterectomy procedure. She told us that writing and sharing her experience with breast cancer, genetic testing, and taking preventative steps against ovarian cancer was cathartic. This is her story, in her own words:

AmyThorpeMeet The Amazing Amy
When I was 34 I was diagnosed with Stage 4 breast cancer. I went for a second opinion to the University of Michigan’s Breast Care team. There was a genetic counselor at this clinic that talked briefly about the BRCA gene. At this time, genetic testing was the farthest thing on my mind. I was facing bilateral mastectomy surgery and treatment options. My focus was on living and beating this horrible disease. Ten years later at my follow up appointment with my oncologist, the topic of genetic testing was raised once again. There was a new genetic counselor on staff and my oncologist thought it may be a good idea to be tested. I reluctantly agreed. Ignorance had been bliss for me thus far.

Having no history of breast cancer in my family, I truly didn’t think I had the gene. My father developed cancer of the tongue when I was in the 2nd grade and had never been a smoker. Five years later it metastasized to the lung and eventually the brain. He died when I was 16. Still, I was convinced I wasn’t a carrier of the BRCA mutation.

My husband accompanied me to my initial visit with the genetic counselor. She very thoroughly explained the process and my husband and I both agreed I should be tested. I did the blood draw right then and there, knowing if I waited I wouldn’t be back.

All the tests for the BRCA strain are sent to Salt Lake City, Utah to be analyzed. My insurance paid for a large portion of the testing. The process takes several weeks and I had pretty much put it out of my mind when I received a call from the genetic counselor that my results had arrived.

I was not prepared for how nervous I was the morning of the appointment. I remember my hands were sweating and my heart was pounding on the drive there. I kept telling myself I was fine. There was no breast cancer in our family. I could not possibly be a carrier.

I was shocked when I heard the results. I had tested positive for the BRCA2 mutation. My profile completely fit the bill. I was a healthy, young woman with a very aggressive, very rare type of breast cancer. I had inherited the gene from my father.

I was reeling. I was so dumbfounded, I didn’t even cry. At least not right away. I made it to the parking lot and my husband put his arms around me, kissed me goodbye and told me that he loved me. He told me everything was going to be okay. Then he left. That’s when the tears came… and came… and came.

It is a very surreal experience knowing you are a carrier of a potentially very destructive gene, especially when you’ve barely lived through one of its tirades. It’s a little bit like playing Russian roulette. You have knowledge, but what you choose to do with that knowledge is the key. My risk for developing ovarian cancer increased to 25%. That may not seem like much, but a risk is still a risk.

I held onto this information for about a year. I was not ready to act on it just yet. Initially, I kept making excuses about why I wouldn’t schedule an appointment with my doctor. Then, I just started being honest. I was a newlywed. We were still hopeful for children. I had been put into menopause when I went through chemo. It was a terrible experience. I was sad. I was mad. I was terrified.

At my 11-year follow up appointment with my oncologist, I decided to make an appointment with a gynecological oncologist. My husband agreed it was time. There simply is no good screen for ovarian cancer. In my mind, I was playing with fire.

Sitting in the doctor’s waiting room several weeks later, my husband’s eyes were as big as saucers. We were surrounded by 15 or 20 some women between the ages of 40-70, all going through cancer treatment. It was at that moment that I knew the time had come.  I never wanted to go through that again.  I didn’t want to put my husband through this. I wanted to be healthy. I was being ridiculous.

I’m scheduled next month for a total hysterectomy. I know, for me, I’m making the right decision. It’s a decision that took me awhile to make. I have a lot of fears and a lot of sadness, but I know I’m doing the right thing.

My husband, family and friends have been incredibly supportive during this process. They have listened to me, cried with me and uplifted me. Through their love and encouragement, I’ve been given the courage to pursue this surgery. My sister-in-law sent me an email the day after we told the family our decision. She told me she was “sad” that I had to go through this process and face a significant decision with so many layers to process. She told me she was filled with “gratitude” that I was tested; “pride” that I chose the tough but best decision of surgery; and “love” that I was doing everything in my power to ensure a long lasting human presence in this world. Her words will stay with me forever.

Overall, I’m happy I decided to have the BRCA testing, as scary as it was. Knowledge is power. I’ve encouraged my siblings to do the same. Everyone’s situation is different. You have to make a decision that’s right for you at the right time.

I’ve been given a gift. I’ve been given a second chance at life and I’m not about to risk it. For me, I chose to eliminate the potential risk that may happen. I chose not to live in fear anymore. I chose to rest my head on the pillow at night with no reservations about my future.  I chose to be happy, to love deeply, to appreciate every day and to continue to live my mantra: to “Be Amazing.”

To learn more about genetics counseling available through ProMedica Cancer Institute, please visit http://www.promedica.org/cancergenetics.

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