Genetic Testing ~ A Tough Decision
A recent article I read, Beyond BRCA: Testing negative and living in the “gray zone” for cancer risk, motivated me to write a personal response. This is the story of my own genetic testing that for me was a tough decision.
The article was about a fellow Twitter advocate in the breast cancer community, Stacey Tinianov. We have a bit in common as you can see by the list.
- Both love coffee and tweeting. You can find Stacey on Twitter @coffeemommy and me @6state
- Both maintain a healthy diet and active lifestyle
- Both gave birth to our children before the age of 30
- Both had two children and nursed them
- Both love the “blueberry diet”… AKA…”a lifetime of following the myriad of published “cancer prevention” techniques
- Both diagnosed with breast cancer in our 40’s (me> a 2nd diagnosis in my 50’s)
- Chemotherapy – Shared the burden of proof of that difficult task!
- Breast Reconstruction after mastectomy
- Fierce advocates promoting patient engagement and shared decision making through social media and community involvement
- Blog about our experience
- And last but not least, we both tested negative for genetic mutations
It was soon after my second breast cancer diagnosis in April of 2014 that I was advised by my healthcare team to move forward with genetic testing. I hit two of the criteria for this recommendation. 1. I had breast cancer the first time at a relatively young age, in my 40’s. 2. I had a recurrence of breast cancer in the same breast and a new primary cancer in my other breast.
I started the genetic testing process with counseling in June of 2014 after a bilateral, nipple sparring mastectomy (NSM) two months earlier in May of 2014. The appointment was more than an hour long. Information was gathered, statistics were presented, family history was reviewed but I stopped short of the actual testing. I was on complete medical information and emotional overload. I was healing from a double mastectomy while at the same time finishing coursework for my first semester back at graduate school. I was waiting for results to determine if I was or was not a candidate for chemotherapy, all while diligently researching DIEP flap breast reconstruction and finding a qualified micro-surgeon to perform my procedure.
The burden of the genetic results on my shoulders
The honest truth is that I couldn’t bear to tell my two sons, two sisters, and two nieces the results of my genetic testing outcome, especially if the results were positive. I knew it was going to impact them in decisions monitoring their own health. I agonized over this for months. On the one hand, I knew it was valuable information for them to place in their healthcare arsenal. On the other hand, I took the fall for being the “carrier” of the gene mutation. That’s where your head goes sometimes when you deal with this duplicitous disease and not knowing the true cause or origin.
I let some time pass and put the genetic testing on the back burner. I moved forward with my post-mastectomy care with blood work, scans and finally breast reconstruction on December 1, 2014. The recovery took time but it was the beginning of a return to feeling whole again. Losing my breasts and living with a mastectomy for seven months took a temporary toll on my self-esteem. Having DIEP flap breast reconstruction gave me back that sense of femininity and wholeness.
Moving forward with the genetic testing process
It was on April 2, 2015, that I once again revisited a counsel on genetic testing. This time it was with my plastic surgeon the day before phase two of my DIEP flap surgery. That may seem unconventional but it relates directly to what Stacey said in the story about her own genetic testing.
Being your own advocate is critically important, but I realize that not everyone feels comfortable using her outside voice in the medical setting — sometimes it’s about finding someone who can advocate for you.
I chose to speak to my plastic surgeon because of what I saw in him; high emotional intelligence, a solid and broad knowledge of breast cancer patient information, confidence and honesty in his approach in counsel when I asked for guidance. I found someone who gave me solid, compassionate, evidence based information. The trust I placed in his counsel allowed me to have a strong voice of self advocacy to complete my genetic testing. This is what is so very important for each patient to find, a trusted source to empower you to make your own best decision.
Although I was the one who moved forward with the final decision to do the testing it was through a trusted voice in the healthcare community that gave me the clarity to do that. Sometimes as patients we must navigate those treacherous waters of finding those trusted individuals coupled with our own research that leads us to these difficult decisions.
November 2015 was the day I finalized my genetic counseling. I spoke with a different genetic counselor than I originally spoke to in 2014. The first one I initially spoke to moved out of state to a different facility. Again, the trust and level of clarity that she possessed gave me comfort in my decision to complete the process with blood work that day. She patiently and methodically listened to my concerns about not wanting a “smorgasbord” of gene panels. She gathered my family history and with a smile on her face said, “You have what I’d call a remarkable history”, meaning, I had very little history of any kind of cancer in my family. I looked at her and smiled back and said, “No one has told me I’m remarkable yet today. I’ll take remarkable.”
Genetic Results and a sense of relief
I returned in January of 2016 for my results. I tested for the four gene mutations that the genetic counselor and I decided were pertinent to my family and personal health history. Not only did I test negative for BRCA1 and BRCA2, I tested negative for the other two and in addition to that, no VUS, variant of unknown significance.
I took a friend and nurse navigator with me for both appointments, both in November and for the results in January. I was absolutely relieved that I tested negative for the same reason as Stacey; I didn’t pass this along to my two sons and it gave me hope that I didn’t have an increase for additional cancers. But unlike Stacey, I didn’t feel the sense of confusion. I understand her “odd combination of relief and confusion” but for me I still am and hope to always feel relieved about my results.
Why? It’s very personal, of course. We each respond differently. When I walked out with my friend and nurse navigator we both wrapped up the discussion and results that I got from the genetic counselor that day. She looked at me and said, “Terri, this is good news.”
She added, “You know more about your well-being than I do my own being a nurse. You are so diligent about your health and have a background and records to back it up along with a trusted healthcare team that you will stay on top of what you need to do to remain healthy. If something is wrong you will address it.”
Living in an era of genetic testing
I don’t know what caused my cancer and may never know. There are, unfortunately, many in that club. Until we find a cure, until we know the cause of this disease, the element of the unknown will remain. We do have options to find out if we carry a gene mutation and for those living in this era, this is of great value and adds to the informed choices we can make about our healthcare because of genetic testing. Counseling is imperative! I cannot stress that enough. Find a voice of advocacy to compliment your own voice or to speak on your behalf if you cannot when you decide to move forward with genetic testing.
Today I feel healthy and feel blessed to be living a purposeful life. I have two amazing sons and a precious, new grandson. I will continue to emphasize and model a healthy lifestyle to each of them. I feel content in knowing that based on the guidance from my genetic counselor there is no added testing my sons need to put into place for their own healthcare equation.
I was fortunate enough to meet Stacey this past December at the San Antonio Breast Cancer Symposium. We had some coffee together, OK, maybe a little too much!
There’s definately a lot to learn about this subject.
I like all the points you made.
Thank you for the comment. There is a lot to learn on this topic. The data we currently have seems to be outweighing the capacity to counsel and advice patients on their results. I hope the article helped to shed some light on this.