Friday, June 27, 2014

I DON'T KNOW: how to even explain genetic testing...but I'm going to do it anyways

Let's start at the very beginning...

My maternal grandmother died very young from breast cancer  (diagnosed at 39, died at 42). We have a strong history of breast cancer (going to write this at BC going forward) in my family and my mom and aunt also had preventative bilateral  mastectomies (also now known as PBM's) and hysterectomies at a relatively young age.  

About a year and a half ago, I had my gall bladder removed. While you might be thinking.."Hannah - you're ALREADY off topic...come on now!" - I promise this ties in. My surgeon (Dr. Elegy Etter) for that procedure also happens to spend a lot of his time treating women with high risk of breast cancer (who knew). He reviewed my family history and asked me if I had ever been tested for the BRCA gene. I said "no" and he said "I think  it would be a good idea for you to just go talk to someone in the genetic counseling center"...I said "ok...I'll think about it"

Fast forward to this past January and I finally got the cohones time to make that call. I hadn't really decided if I really wanted to know before then but eventually I came to the conclusion and I would rather know and have the option of doing something about it then be positive, not have the info and then possibly/probably have to treat cancer on top of it all (I hate feeling unprepared...or stupid...and if that happened I think I would feel both).

So I went and traversed the campus-the-size-of-the-deathstar  to the MD Anderson Cancer Center one Tuesday morning (if you want more info: http://www.mdanderson.org/patient-and-cancer-information/cancer-information/cancer-topics/prevention-and-screening/genetic-testing-and-counseling/index.html ) . I met with a wonderful breast surgeon named Dr. Arun then saw a very nice genetic counselor named Jessica Profato. She explained to me that the BRCA mutation (despite all its popularity) actually only occurs in like 0.3% of the population and that it was HIGHLY unlikely that I was positive even if my grandmother was. You see if my grandmother's breast cancer was due to the BRCA gene then she only had a 50% chance of passing it down to my mom. If that happened, and my mom was positive - then she only had a 50% chance then to pass it on to me. So in my (admittedly very bad at math) brain - I only had a 25% of .3% (you figure out what that number is - "Ideas in Mathematics" was my only college math course...for reals) chance of being positive. However, because my mom and aunt had already done all the preventative stuff that is out there and my grandmother had died, I was pretty much the next in line to test. At first she wasn't going to test me but thankfully my insurance covers this kind of testing so we went ahead with it and got one little tube of blood and off I went on my merry way. She said I would hear from her in a week or two. 

So I waited...and waited....and I'm not a very patient person with these kinds of things....

And she called me -during my lunch break one Friday (right during the middle of trying to eat my freakin' snack pack! totally ruined it!)

I was positive for the BRCA 1 mutation (there are 2...we'll talk about this another time).  I don't know if I'll ever get over how amazing it is that they can take one little tube of your blood and tell you SO much about your health and what could happen. Medicine is amazing. She admitted she was very very surprised that I was and I tried to explain to her that I am clearly a high achieving medical champion and if I'm going to win any kind of lottery - this was going to be it - never she fear. Genetic lottery draft 2014 here.I.come.  She didn't find me as comical I don't think...pity...

She explained to me some options available to me and that I would need to come back in to discuss what my positive test meant. So I made my appointment and started my journey to fake boob town (will now call them foobs). The rest is history in the next few posts! Stay tuned!

If you're keeping track - new abbrev's to know are now up to 3 - BC, PBM and foobs. Keep up.  

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