It has been just over a month since my second (and final) appointment with the genetic counselor at the Breast Center at University of Colorado Health Sciences Center. I was referred to them through our health insurance, Kaiser Permanente, to help me investigate whether or not I carry a deleterious gene mutation in the BRCA2 gene. The possibility came to my family's attention last year when my cousin, Jenni, passed away after her five year long struggle with breast cancer. She was 37 years old. During her treatment time, she was tested and found to have the BRCA2 gene mutation in her DNA. Subsequently, other key family members were tested and some were found to carry the mutation, and others were not. My paternal aunt also passed away at 37 years old from breast cancer in 1984. Two close family member were two key people who carry the mutation, so I received a letter in the mail from their genetic counselor describing the mutation and the possibilities of having my own DNA checked. I went through the process with Kaiser, and ended up having to wait 3 1/2 months before I could even get in to see the genetic counselor for the initial consultation. After the first meeting and testing, I waited another three weeks before I went back in for the results.
During the waiting time, of course all sorts of scenarios cross through the mind, contemplating how I might react, or respond, or what decisions I'd have to make, or not. But I knew I couldn't know about making any decisions until I knew if I carried the mutation or not. I had decided to go ahead and receive the testing for a variety of reasons. One, I wanted to know if this was something my children (all boys) might need to be concerned with later in their lives when they have children of their own, potentially girls who might need to be concerned with extra vigilance for early detection of breast cancer. Two, for my own knowledge and for the increased vigilance for my own breasts and ovaries, as well as considering prophylactic surgeries and chemotherapy. By the time I went to the second genetic counseling appointment, I had already decided that if my results were positive, that I would likely elect to go through with an oophorectomy. I am finished having children, and have begun having severe menstrual difficulties, and the oophorectomy would eliminate those problems and decrease the risks of getting both ovarian and breast cancer. I was fairly certain that I wouldn't immediately elect for bilateral mastectomy, especially since there was no guarantee of the breast cancer not appearing, and a five year prophylactic course of tamoxifen was inconceivable to me, even with a high success rate. Of course there is no guarantee of anything.
As it turns out, my results were negative for the mutation. The oncologist and genetic counselor weren't even fully seated before they gleefully relayed the news to us (my mother and Richard, my husband, accompanied me on this journey). I was surprised by the emotions that ran through me with this news. A big part of me was surprised, however another part of me "knew" that this was not in my cards in this lifetime. It was quite a mix of elation, relief, sadness for those who still have to make decisions regarding the information they have about having this mutation.
This is an interesting point, now we can find out about many disease state potentials through this genetic testing. It brings an entire new set of awareness to medicine and health and responsibility. Thankfully, the knowledge of epigenetics is also increasing. Basically, the fact that our fates are not solely in our genetic code, but a lot of our genes getting turned on and expressed, or turned off and muted, has a lot to do with the stress in our lives, the foods and toxicities we consume. It does seem that having this information, at least in the case of the BRCA1 and BRCA2 gene mutations, is helpful for increasing one's vigilance to provide early detection and help increase the lives saved. For other disease states, it's hard to know and decide. For example, I read an article in National Geographic about a gene mutation that suddenly caused a person to stop sleeping, and usually within a year, the person would be dead because of the lack of sleep. The story was about a couple of sisters. One had been tested and had the deleterious mutation so knew, pretty much that at some point in her life she was going to stop sleeping and ultimately die as a result. The other sister chose to not get tested. Unlike breast cancer, there was no "early detection" for early diagnosis and there was no treatment known for the illness. The second sister simply did not want to know. This, to me, seemed very reasonable.
