I Got Tested & Found Out I Have The Cancer Gene

I recently made the decision to seek genetic counseling and testing to determine if, given my history of cancer, my daughter was also at risk for contracting the disease. Turns out, she very well may be.

My first step in the genetic testing process was to see if I carried either the BRCA1 or BRCA2 mutations. If I tested negative, I would then have the option to go deeper and do further testing. Given my known family history and all of the relevant factors, I knew I had a relatively low 7.5% chance of testing positive for one of the mutuations. So I was surprised this week to learn that I had indeed tested positive for a BRCA1 deleterious mutation. In other words, I have the cancer gene.

So what exactly does this mean for me and my family? I spoke at length with my very kind and knowledgeable Genetics Nurse Practitioner at Vanderbilt's Hereditary Cancer Clinic about the many potential ramifications of having hereditary breast and/or ovarian cancer syndrome.

First, the fact that I have the BRCA1 mutation means that I am at an increased risk for breast cancer. We also now know that this is the reason I contracted widespread gynecologic cancer (originating in the Fallopian tubes and metastacizing to the ovaries, uterus and beyond) in the first place.

And my "increased risk" of contracting breast cancer is high. Quite high. I actually have an 87% chance of contracting breast cancer in my lifetime. (With this mutation, I had a 44% chance of contracting ovarian cancer in my lifetime, and we know how that went down.) My genetics nurse practitioner explained that I had "already lived through" part of my lifetime odds on the breast cancer risk, being that I have 45 breast cancerless years under my belt. Nonetheless, the odds of me getting breast cancer are uncomfortably and unacceptably high. So much so that a bilateral prophyactic mastectomy - removing both breasts as a preventative measure - is recommended.

I lost my ovaries and now I'm going to lose my breasts? For someone still recovering from her last major surgery to remove all of her female organs and then some, it was a lot to take in. It would be a lot for anyone to take in. Maybe even more so for a healthy, younger woman. Unfortunately, young healthy women are faced with decisions such as this every day now. And our daughter may actually become one of those women.

We now know that our daughter has a 50% chance of having the same mutation. If we learned this when she was 25 years old instead of one, she would be facing decisions about preventative surgeries just like I am. The thought of her being so young and faced with the possibility of losing her breasts and ovaries is heartbreaking. Fortunately for her, she's too young for these to become issues. She can't even be tested until she's 18. Our hope is that medical science will have made tremendous strides in cancer fighting treatment in the next 24 years. Ideally, by the time this is an issue for our daughter, a cure will have been found. And if not a cure, laser-pinpointed treatment will hopefully have been perfected that is tailored to her DNA so that any cancer can be eradicated as soon as it appears. 

In the meantime, my younger brother and mother will be tested to see if they carry the mutuation. The goal in tracking down the source is so that we can notify other pertinent family members so they can be tested or take precautionary measures as necessary.

As for me, I'll continue to visualize healthy pink cotton candy insides and hope that I can have the breast surgery this summer, when -- best case scenario -- I will have been one year cancer-free. (If I am having a recurrence of my gyn cancer, this will have to be dealt with before any preventative measures are taken.) 

When I told my husband this latest news, he responded, "Can't we get a break?!"; and I admit my initial thoughts were somewhere along those lines. But then, I thought, we have gotten breaks. Lots of very important breaks.

- My cancer was found before it became too late to treat, something that would not have happened had I not had an unplanned C-section.

- We have a healthy, perfect baby.

- We now know what caused my cancer, and I can take steps to hopefully prevent new cancer from forming elsewhere.

- My daughter will not be caught off guard by cancer. It will already be on her radar.

- And we found each other. 

These are the important breaks. I can deal with anything else that might be thrown our way. We have each other. We're happy; we're together and we're here.

 Images via Brooke Kelly Photography

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Crystal Weber

lkm091 - the insurance part can be tricky.  They don't like to pay for it because quite frankly it is expensive.  They need to have enough of a reason to agree to pay for it.  Long family history, things like that.  The initial person that is tested, would be tested for every mutation of both BRCA1 and BRCA2.  That test runs roughly $3200.  Once the exact mutation is found, every person after can be tested for that mutation alone which cuts the cost of the test dramatically.  My mom's insurance paid for the original $3200 test because every female in her family had developed breast cancer.  Once we knew exactly which mutation it was, I was tested for that mutation only.  And my insurance did pay for that test as well.  Your doctor really needs to become an advocate in that part of it to convince the insurance company that it is beneficial for you to be tested.  

Joanna Stanfield Montgomery

Because I had had cancer, my health insurance company paid the cost of my BRCA1 and BRCA2 testing, which normally would cost between $3,000.00 and $4,000.00. Because I tested positive, my brother can now be tested and have the cost covered by his insurance. Because my mother is on Medicare, the cost of her testing will not be covered. However, because they now know the "address" at which to look (on her DNA strand) based on my genetic testing, the cost of her test will only be about $400.00.

Nnee Nnee

Thank you for posting this very informative article. 

Michelle Earehart

as usual..love reading your blog:) Love you

nonmember avatar Sequin

Beautiful, absolutely. There's a lot of cancer all over my close family and I keep wondering about getting the test. I keep asking myself 'if I know, will it make me happy or will it be a burden and then cause all kinds of big decisions?' The 'ignorance is bliss' argument. I've just had a baby boy and, like you, this thought of his future is a factor. Thanks so much for sharing. x

Deee6 Deee6

I am going on March 7th to be tested for the BRCA 1 and 2. at MD Anderson cancer center. My mother and all of her sisters have died of breast cancer. I am 49 years old. This scares me to death but I really want to know instead of just assuming I am going to get Breast Cancer. Thanks for writing about your journey and sharing your positive attitude.

mommy... mommythree0508

It's great that you're staying positive.

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