Not this time brca!

This beautiful woman (my lil sis) tested NEGATIVE for the brca2 gene mutation!!!

 

We are so thankful her daughters will not have to worry.

 So excited to watch these gorgeous girls grow up and rule the world without brca hanging over their heads.
feeling real blessed right now.

I'm brca2 positive. What now?

I LIKE TO KICK!  I always figured I'd be at least 50 like Sally O'Malley (Molly Shannon from SNL) not 42 when I went through menopause.

 

I'm brca2 positive. What now?

 

The first recommendation for brca2 is a prophylactic oophorectomy to reduce the risk of breast and ovarian cancer.This will take away the body's main source of estrogen. Ovarian cancer is hard to detect and is often too advanced by the time it is found. The doctor explained that she will remove the ovaries, uterus, fallopian tubes, cervix, and anything else hiding out. She will then do a pelvic wash.  Everything will be sent to the lab for testing. M and I both have cysts which didn't seem worrisome until now.  M has surgery scheduled for April 2 and I will have mine April 23.  The surgery will put us into menopause immediately.  However, we will not be able to take any hormone replacements because estrogen is our enemy. I am trying to be positive but the thought of hot flashes, irritability, depression, vaginal dryness, and other side effects freaks me out. I know it's better than getting ovarian cancer but it's still scary. 

There are a few recommendations to reduce the risk of breast cancer. The first is monitoring- frequent MRI's, mammograms, ultrasounds, and clinical exams. The second is a prophylactic double mastectomy. This is a very personal decision. My husband and I feel I should have the prophylactic mastectomy. After the mastectomy, my chance of developing breast cancer drops by 90%. Those statistics are amazing but there are sacrifices. I will lose both breasts as well as my nipples and I won't have any sensation even after reconstruction. I will be seeing the breast surgeon and plastic surgeon after I recover from the oophorectomy.

I'm tired today.  I told one friend "sharing the news is a bit scary because...it just got real." I'm feeling weepy (maybe it's hormones since I'm due to get the last period of my entire life!) or maybe I'm mourning the loss of my "body parts" already.  

Next step for me- MRI scheduled April 5th.



Day 1

me, M, and L

 

I called my doctor Monday, March 4th with the news that my mom tested positive for the brca2 deleterious gene mutation.  Heredity cancer. She asked if me and M (yep we go to the same doctor) would come in for genetic testing that morning. When we arrived, the doctor sat with us and went over our family history to include on the genetics form. We have breast cancer on both sides of the family and my aunt passed away from ovarian cancer at age 27. There is a 50% chance that neither, one, or both of us inherited the gene from our mama. The blood draw was the easy part. Hard part was waiting for the results, which could take up to 4 weeks depending on how busy the lab was. (All genetic testing for brcaAnalysis is done through Myriad Labs.) Our younger sister L, had her testing done two days later in Arizona.(results still unknown)  On Thursday, March 14th the doctor called. She asked if we would come in together because she received our test results. If we were negative wouldn't she just tell us over the phone? M picked me up less than an hour later and we were on our way. 

The doctor sat us down and said "you both tested positive for the brca2 deleterious gene mutation."  Surreal. I assured her I was fine with the news even though my eyes were full of tears. It was just weird. Not surprised but,until you actually hear the words spoken out loud its not real.

 

THIS SUCKS!!!!!!!  I mean really?????

 
What is freaking brca anyway???

 

  I never heard the term brca until my mom had her genetic testing.  Brca stands for breast cancer susceptibility. BRCA1 and BRCA2 are human genes that belong to a class of genes known as tumor suppressors. In normal cells, BRCA1 and BRCA2 help ensure the stability of the cell’s genetic material (DNA) and help prevent uncontrolled cell growth. Mutation of these genes has been linked to the development of hereditary breast and ovarian cancer.  All future information will pertain to brca2 since that's our mutation of choice (not!) 
 Some statistics: Brca2 women have an 87% chance of getting breast cancer and 44% chance of ovarian cancer. Brca2 mutation is also at a slightly higher risk of stomach cancer, pancreatic cancer, bladder cancer, and melanoma.

Dude, this is some serious sh--stuff. I'll try to watch my mouth (sorry mom).

Welcome to life as a mutant.

What now?



 

 



Before brca

 

 

This journey actually began with my moms diagnosis of stage III breast cancer in November, 2012.  The picture above was taken right before her double mastectomy surgery. She is undergoing chemotherapy and radiation will follow. Her strength and faith continue to amaze me.  

After her diagnosis, the oncologist recommended comprehensive genetic testing to see if she carried the brca1 or brca2 gene mutation. Results showed: positive for deleterious brca2 mutation.  This is where my journey begins...