The call came when I was playing with my grandchildren at the beach. I recognized the number right away and excused myself into the cottage bedroom, my heart pounding.
A month earlier my new oncologist had suggested that I consider genetic counseling to test for breast cancer genetic mutations. I wasn’t sure if I wanted the testing, but the opportunity to talk to someone about what my cancer history means for my children and sisters sounded like a good idea.
When I was diagnosed with inflammatory breast cancer in 1998, genetic counseling and testing were less common than now. The two breast cancers I knew about in my family were both post-menopausal, rather than the premenopausal ones usually associated with BRCA 1 and 2 mutations. I don’t remember my doctors even mentioning the possibility of genetic counseling at the time. Over the years, I have learned more about the patterns most commonly associated with breast cancer mutations. The main one that concerned me was that my father’s family are Eastern European Jews, a group with a higher proportion of genetic breast cancers.
I left the oncologist’s office with a referral to a genetic counselor, still undecided whether I would want testing done even if I did qualify for it. We know that I had breast cancer, whatever the cause, and our daughter’s doctors are already following protocols for “at risk” patients with her based on my diagnosis. What would testing add?
I told our two children that I would be seeing a genetic counselor and would find out if I was a candidate for testing.
The morning I met with the counselor, I went in with the mindset of information gathering along with data about my relatives. I assumed that I would take time to digest whatever she said and then decide whether to follow through on the testing.
Although the counseling office was at my hospital, the office where I met the counselor was decidedly “non-medical,” with easy chairs to promote a comfortable conversation. She quickly put me at ease and explained about how genetic factors can be involved in breast cancer, but that only 5 to 10 percent of breast cancers have hereditary causes currently detectible.
She asked me about my family medical history: parents, sisters, grandparents, aunts, uncles, and cousins. What kinds of illnesses had each had, and, for the deceased, what caused their death? My father’s prostate cancer, my two aunts’ breast cancers, and a possible breast cancer death of a young first cousin all counted as hints that my cancer might be genetic.
Although I knew that my cancer was premenopausal, I had been under the impression that diagnosis at age 50 was too old to be considered a risk factor for the BRCA mutations. No indeed, said the counselor, breast cancer at age 50 or under counted. I was also surprised to learn that one important reason the doctor had referred me for counseling was the fact that I had multiple tumors in the same breast. She said they could test just for the BRCA mutations or do a 42 gene panel that would look at other types of hereditary cancers.
The counselor explained that I met the criteria for testing and that although she couldn’t promise that insurance would cover it, usually it did for people like me. Would I like to go upstairs and have a tube of blood drawn right now? I found myself saying yes. She had done such a good job of explaining what the test could and couldn’t show that I didn’t see any reason to think it over and come back later. As long as I was having blood drawn, I asked to have the 42-gene panel done.
While I waited for the next week to hear the results, I pondered whether to tell our adult children I had actually pursued the genetic testing. If I did, I would be obligated to tell them the results, whatever they were. I decided not to tell them that I had done the testing. When the results came back, I could decide if and how to share.
Now in the beach cottage, I pushed the button to accept the call and took a deep breath. The grandchildren were laughing and playing in the other room, and I had to listen very carefully to hear the counselor.
“Negative results! No mutations for any form of cancer were detected!”
I took a deep breath and asked a few more questions to make sure I understood.
These results mean that my children do not have those mutations either, unless they received them from their father, a highly unlikely possibility given that there are no breast cancer cases in his family. So what caused my cancer? No one knows.
When I arrived home from the beach, an explanatory letter would be waiting. It would include this sentence: “These results do not exclude a genetic etiology for the cancer found in Ms. Johnson’s family.” Scientists are still learning about how hereditary mutations are connected to cancer, and the counselor will keep my results on record if there are new discoveries.
But right then in the beach cottage, I was able to walk into the living room with a smile on my face and tell my family, “You will be happy to know that I do not have a genetic mutation for cancer.”
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Phyllis Johnson is an inflammatory breast cancer (IBC) survivor diagnosed in 1998. She has written about cancer for HealthCentral since 2007. She serves on the Board of Directors for the Inflammatory Breast Cancer Research Foundation, the oldest 501(3)© organization focused on research for IBC. She is a list monitor for an online support group at www.ibcsupport.org. Phyllis attends conferences such as the National Breast Cancer Coalition’s Project LEAD® Institute. She tweets at @mrsphjohnson.