I've written on here before about how I am being tested for the BRCA 1 and 2 gene mutations that are associated with breast cancer, since I have a family history of the disease. Well, the appointment was yesterday! I'm just going to write a bit about it because I think the info is interesting and something that other GTers might be interested in.

I am fortunate to have an awesome bff who came with me to the appointment, bought me ice cream afterwards, and spent the evening watching TV and pigging out with me. Sadly, I've come down with a cold, so she skedaddled so I could sleep in peace. But I just gotta say, that is ideal supportive friendship right there: be with me for the scary doctor appointment and buy me ice cream afterwards, then leave me in peace when I'm too sick to really hang out for long. I feel just way too lucky for words. She has often said before that she really cares about me as a friend*, but there is a difference between saying that and really showing it, and I feel like now I know that when I need someone to be there for me, I can count on her.

Anyway, yesterday was actually a pretty good day because I was really feeling the love and support from people in my life, which was awesome. When my roommate came home from work she had picked up a couple of my favorite foods at the grocery store to surprise me! I'm so glad I told my friends about this testing issue instead of just keeping it to myself, because they've been great about it.

I will get a call with my results in one to two weeks, and the result will be one of three things:

  1. Positive: This will mean that I do have the gene mutation, in which case I will have about an 80% chance of getting breast cancer before I am old. I will need to start twice yearly testing (mammograms and breast MRIs) at age 25. Getting a preventative double mastectomy would be an option. Because ovarian cancer is also associated with this gene mutation and is so hard to test for in its early stages, I would probably get my ovaries removed after having children or by age 40. Honestly, this part freaks me out even more than the breast cancer does. They often can't see ovarian cancer until it's advanced, and that's terrifying! And I really want children, and I'd like to be able to at least try to breastfeed (my mom found it too difficult and painful, so I've always thought I would just try it out, with no shame if I couldn't make it work). The genetic counselor also talked to me about how I could do IVF and test the embryos first to make sure I don't pass the mutation onto my children, which is definitely an issue for another day. Too overwhelming to think about that now!
  2. Negative: No gene mutation, meaning my lifetime breast/ovarian cancer risk would likely be more in line with that in the general population. I would have talk to the doctors more to figure out if I still need to be doing more screening, because apparently this stuff is complicated and it might not be as simple as "no mutation, you're fine!".
  3. Variant of Unknown Significance: This result would mean that there is a mutation on one of my genes, but they don't have data showing whether this mutation is benign or harmful. As they collect more data over time, they'd contact me again to let me know if other women with this mutation were all getting breast cancer or whatever. This might be the worst result in some ways because I wouldn't know what the hell to do with it! At least with a positive result I would know, you know?

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I checked the box on the forms allowing them to use my results in their research. I hadn't realized before that that was a possibility, but now I think it's really cool. I hope they can use my results for something useful! It doesn't feel real to me, still. It's incredible to think that in just a few days I will get a phone call that will change my life. Some part of me has always believed that I am destined to get breast cancer, so finding out I didn't inherit the gene mutation would take away a worry that has always been there, ever since I was a child. At the same time, I've definitely never fully processed what inheriting the gene mutation would really mean. Twice yearly screening?! That's like being a slave to worry for the rest of my life!

I will definitely write on here again when I know my results. Until then, I'm just trying not to obsess over it. I feel really fortunate to live in an era when so much early testing is possible. My grandmother died of cancer as a young mother, back when they couldn't do much about it. The women in my family who have been diagnosed since my childhood are all survivors.

Anyway, sorry for the crazy long ramble. <3 you all!

*Have any of you ever had a friend who was always telling you how much they loved you, and how you are their best friend ever and everything, and felt like they were just trying to manipulate you (perhaps subconsciously) into putting up with their shit? I had a friend like that before, who was kind of parasitic in some ways, and wasn't really there for me, and she was the most effusive of my friends at the time. So now when a friend tells me how much they love me, I guess I expect them to be suckering me? Anyway, that's just a side note. I am still in touch with that friend, and I don't resent her or anything, but I always felt like she told me I was the greatest so that I would help her with stuff.