Genetic Testing
Wednesday I had a three-hour long appointment with the surgeon to go over all of the results they have so far, regarding the pathology and next steps for treating my breast cancer. Thursday, I had a ninety minute appointment with another doctor to talk about genetic testing. Originally, I didn’t plan on writing about this appointment, because I didn’t see it as necessary. However, it is all part of the process and there was some very important information discussed at it.
Why Genetic Testing?
Because I am so young, although I don’t feel young, (I just turned 37) the doctors wanted to do genetic testing to see if I have any of the genetic mutations that are associated with an increased risk for breast cancer. The genes that are looked at are BRCA1 and BRCA2. The panel also looks at a handful of other genes, however these are the two genes that are most important.
What if They are Positive?
If I test positive for genetic mutations on either of these genes, then they would recommend I have a double mastectomy, my ovaries, and fallopian tubes removed. The reason they would make these recommendations is because on top of these mutations leading to a 50% greater chance of me developing breast cancer in the other breast, a BRCA1 or BRCA2 mutation also means a 40% chance I will develop ovarian cancer.
Are There Other Options Besides Surgery if I Test Positive?
In all likelihood I will test negative for these gene mutations, however in the off chance I test positive, I have discussed with my doctor that I am not opting for a double mastectomy at this time. Yes, that puts me at a greater risk for developing breast cancer in the future in my other breast, but given that information, the doctors would proactively see me for mammograms and MRIs on a more regular basis to screen for any changes to my breasts. I was pretty worried about the removal of my ovaries/fallopian tubes if I tested positive and the doctor told me not to worry about that right now because it is highly unlikely that I will test positive.
How Does Ancestry Play a Role in Breast Cancer?
Prior to seeing the doctor to talk about genetic testing, I had to fill out a family history questionnaire. The interesting thing that the doctor told me was the more genetic testing they do, the more they realize family history doesn’t play a part in having a genetic predisposition to getting a cancer diagnosis. In my family, I have 4 great uncles, a great-grandmother, a grandfather, and a great-aunt who developed cancer. Not all of them died of it and not one of them had breast cancer. This would lead you to believe that I wouldn’t even need genetic testing. However, the doctor shared a story with me about a patient she tested recently who had no relatives with cancer, and that patient ended up testing positive for both genetic mutations. This definitely has me slightly more worried that I will end up testing positive. But, I’m trying really hard not to think about it.
Learning Patience
The more testing I undergo throughout this whole cancer diagnosis the more I am having to learn patience. I find that the days I have appointments are the toughest days for me because I can’t avoid thinking about my cancer and the days I don’t have appointments are spent feeling like I’m in a waiting room. It’s hard to go about your normal life when something so heavy is weighing on your heart. It’s hard to not let it taint everything you do.
I’m learning that I can be afraid and angry and stubborn about recommendations when I first get them, but that with time, I can also accept the inevitable, face things I didn’t think I could face, and be strong enough to persevere through them. Every appointment is another opportunity to get bad news and I hate that. I hate that I can’t look away or not find out. It’s terrifying to be honest. Like looking directly in the eye of the thing that is most frightening for you, and facing it head on. I’m learning to not look away, that fear cannot kill you, and how to process and proceed forward knowing that I will face more terrifying moments in the future. It’s ok to be afraid, as long as you don’t let that fear stop you.
