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?