How I found out I was BRCA 2.

I decided to start blogging for a few reasons.  One, because I think I’m quite the story teller, entertaining and as you can see humble?! Two, because I’m an open book, no subjects are taboo to me. Three, it’s a cheap form of therapy. My goal is to share my journey, post the process and pics of the steps I am taking to stay on top of my health.  To make others aware of how they can help advocate for themselves.   So, if my language (yes I swear) or pictures will offend you just stop here and call me to explain the following in a more lady like manor!  If your ok with the above then read on, soon, I will be a previvor!

I’m 39 and after breastfeeding two kids, I knew I wanted to fix the girls (my boobs), they needed some help, not as perky as they used to be!  I had a very good friend tell me, “you’re a ashkenazi jew, (1 in 40 have the gene) with your grandmothers (moms, mom) dying at an early age from breast cancer, you should do the cancer genetic screen just to be sure since your wanting to do a lift anyway.” About the same time my dermatologist while doing a routine scan and after my Botox🤪, sees a spot he does not like on my back.  3 weeks later test comes back, it’s cancerous, so they need to remove more and make sure the margins look clean.  This was now my motivation to take the BRCA test.   I mean two totally different types of cancer, but still quite a scare when you hear that word, “cancer”!  I myself was familiar with the genetic screening because of my friend, (What a blessing🙌🏻), but let me tell you what that means, because most do not know. So based on family history and not just breast cancer, but ovarian, pancreatic, colon etc. a geneticist can do a blood based test (also a saliva option) and see if you have any of these particular mutations. The big ones being BRCA1 and BRCA2. So based on a questionnaire, family history (not very strong one for me) my insurance covered my screening. For me it was pretty convenient as my obgyn office has a geneticist on staff! On May 2017, I do the test, not really even thinking twice about it also thinking nothing of it really?  It took about 3-4 weeks for the results. The geneticist called my cell, left a message, said “I do need to talk to you about your results.” It’s that kind of phone call you know something isn’t 100% right. Ok, so I call him right back and he tells me I am BRCA 2 positive. Pretty point blank. At that particular moment I wasn’t sure how to react. I mean ok, so I have a gene mutation, ok now what? Being BRCA 2, means I have upwards of 75% chance in my lifetime to get breast cancer, based on my mutation. Ok ok, so now what?

Neither of my parents have been tested, my mom is going to do shortly. It either comes from one or both parents and just because your parents have it doesn’t mean it will be passed down to your children. Also neither as of now have cancer of any kind at age 64 and 69. No matter their result, wouldn’t change my decision.

Here is the technical stuff for those that want the nitty gritty! Siting From www.cancer.gov

BRCA1 and BRCA2 are human genes that produce tumor suppressor proteins. These proteins help repair damaged DNA and, therefore, play a role in ensuring the stability of the cell’s genetic material. When either of these genes is mutated, or altered, such that its protein product either is not made or does not function correctly, DNA damage may not be repaired properly. As a result, cells are more likely to develop additional genetic alterations that can lead to cancer.

Specific inherited mutations in BRCA1 and BRCA2 increase the risk of female breast and ovarian cancers, and they have been associated with increased risks of several additional types of cancer. Together, BRCA1 and BRCA2 mutations account for about 20 to 25 percent of hereditary breast cancers (1) and about 5 to 10 percent of all breast cancers (2). In addition, mutations in BRCA1 and BRCA2 account for around 15 percent of ovarian cancers overall (3). Breast and ovarian cancers associated with BRCA1 and BRCA2 mutations tend to develop at younger ages than their nonhereditary counterparts. Mutation in one these genes has a 50 percent chance (or 1 chance in 2) of inheriting the mutation. The effects of mutations in BRCA1 and BRCA2 are seen even when a person’s second copy of the gene is normal.

Ovarian cancer: About 1.3 percent of women in the general population will develop ovarian cancer sometime during their lives (4). By contrast, according to the most recent estimates, 39 percent of women who inherit a harmful BRCA1 mutation (5, 6) and 11 to 17 percent of women who inherit a harmful BRCA2 mutation will develop ovarian cancer by age 70 years (5)

Once I found out my results, my friend told me there was a conference she attends every year called, “Force” (facing our risk of cancer empowered) and it just happened to be in Orlando in a couple of weeks!  So off we went together!  I met so many amazing women, doctors and gathered much needed information to start my research!  While I was there I did have a few consultations, because most of the top doctors flew in from all over the country,  so why not!  Now that I had all this info, what do I do with it?  I mean when I heard about Angelina Jolie, I was like what a crazy nut, anything for attention or press.  Well I have to say, call me a 🥜 I eat those words daily!  I mean here I am considering doing what she did!?  If I don’t take precautionary steps, you go into a world of surveillance.  Meaning every 6 months alternating mammos and mris to be able to catch cancer in its earliest form.  But really, daily wondering is today the day?  Is today the day that the carpet is pulled from under my feet ?  Mostly to know it’s not a question of if, it’s when!  I am a person who has to plan, and plan everything and have control, so this “gene” makes me feel out of control!  After all my research, 7 months later, I have decided a prophylactic (preventative) double(both tatas) masectomy is for me!  My surgery is set for March 15, 2018 in NYC with the doctor who invented/pioneered direct to implant with nipple and skin sparing.  That means I will be keeping my nipples and skin while an inframmory cut will be made (under the boob) to add the implant with a pocket created from alloderm.  I am going to have two doctors in the room during surgery, a breast surgeon oncologist and a plastic surgeon.

In a q & a session at the conference I said, “ok I do a masectomy then a hysterectomy and later that year I drop dead from a heart attack!” Haha I love to joke, the doctors thought it was funny.  I mean you can not run from every illness.  I don’t think I’m brave, But I am almost 40 years young with a 2 and 4 year old.  I am doing this for them, my husband and my family.  They need a healthy mommy, shit they need a mommy.  Not all cancer patients survive.  I felt like if I was on the show survivor,  how could I get voted off the island knowing I had an idol in my pocket?

Follow me here, I will be taking you through my journey and pictures along the way.  My goal to give light to cancer genetic screening, answer questions for family and friends to help them become informed of maybe their risks and to help anyone navigate this ugly disease we call “cancer”!

Randi Ann

xo

http://www.facingourrisk.org/index.php