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I am One in Forty.

By Diana Friedman Cole, Owner Publisher Editor Sandy Springs Dunwoody Macaroni Kid October 3, 2019

I am One in Forty that has tested for the BRCA 2 mutation. I carry a gene that has a higher probability of getting cancer- specifically breast and ovarian. This is not a death sentence. This is a mutation.  

I am not a doctor nor do I play one on TV. I would rather have the professionals tell you about the facts, but I can explain what it means and feels like to me.

So brief history on me: My maternal grandparents died before I had a chance to know them. Neither had cancer. My paternal grandparents both survived cancers ( larynx and bladder) in the ’70s. My mother passed away from a brain aneurysm in 1984. My grandmother was diagnosed with ovarian cancer in November of 1993. She was gone 4 short months later. My grandfather died from what I believe was a broken heart, two years later. I have had my mountain share of death before I was 25. I met my husband and started to create our family. You can read my fertility story here.  

A few weeks ago, a family member called me up and said, “I tested positive for the BRCA mutation. I think you should get tested.” It was around the same time I shared the BRCA article.   

Now, deep down, I thought I had it because of my grandmother. I went to see a counselor with my family history in hand. The counselor asked me a lot of questions and given my history, she also believed I was positive. Nothing was certain until I took the test and had the results.

The test was rather simple. I spit into a vial about 100 times- That was it. We discussed the what-ifs. When I had my partial hysterectomy back in December of 2018, I requested that my gynecologist remove my ovaries. My gynecologist stated at that time, it was better to leave my ovaries in.  The counselor and I discussed that if indeed the test was positive, it would be recommended to remove my ovaries as well. I  was comfortable with either scenario.  My breasts are a different story. My family does not have a history of breast cancer. (My husband’s Mom died from breast cancer, so I have seen the disease in action). 

Fast forward to about two weeks later. It was the result day. I had my husband come with me this time. When the genetic counselor told me my results, I felt like I was slapped in the gut- I tested positive for the BRCA 2 mutation. We discussed what was next. It was recommended again, ovary removal. It was also recommended an MRI every 6 months on my breasts, and the other 6 months a 3D mammogram. We also decided that because of my mother in law, my husband get tested as well.  

I then had the fun privilege of telling my children. Remember they are older at 15, 14, and 11.   They know that they will be tested later in life. 

I then also had to call the rest of my family- especially my female relatives. My relatives were incredibly thankful. One of my relatives said they went through fertility treatments and was tested for all the Ashkenazi blood tests. I said to her, I told the Genetic Counselor that same exact thing. She said that those blood tests were for the baby, not you personally.” 

So, what’s in store for me now? Next week I go in to see my gynecologist and discuss what is next. Most likely I will go in for surgery by the end of the year to remove my ovaries. I started my mammograms when I was 37, so, I am assuming, I will continue those appointments and get an MRI six months later. I will continuously update you with my progress.

I am scared and nervous, but as I said earlier, and I said in the bathroom after I got my results, this is a mutation, not a death sentence. 

In my research, I found a few good websites.

Read my updates.

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