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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nonmember avatar SueBradley

Damn, Joanna, you have the most unbelievably positive attitude. I really admire you. When other women might be feeling sorry for themselves, you're counting your blessings. You are truly an inspiration. Bless you.

kelly... kelly24019

Fuck cancer. I'm so glad you are so positive, there is no way I could be... You have been through so much and remain so awesome and positive. <3 *hugs*

Joo Hee Bennett

you are truly optimistic and an inspiration to all... especially moms.  thank you for sharing your story with us, i have been following it along with tears and cheers.  lots of love and good wishes your way....

Crystal Weber

I also have the BRCA2 mutation and had the bilateral mastectomy 4 days after turning 30.  I will say, it was the best decision I have ever made.  You have been through cancer so you what you would be facing.  I watched all of the females in my family fight this awful disease so I feel like I at least have the opportunity to be proactive instead of reactive.  You are so very brave and your positivity is amazing.  Best wishes in your decision and know that you are bigger than this stupid disease!!!!

Elspeth Stewart

Want to connect with someone about this? My dear friend and colleague Tamarisk recently went through this experience and elected to go through with a double prophylactic mastectomy. She was disappointed not to find any books or accounts from other people going through the same thing (given the test is relatively new) and is writing a book to help others with the journey. If nothing else, sign up to her insightful newsletter which draws from her 10 years experience as a psychotherapist and coach helping her readers to navigate life's little ups and downs.

Check out http://tamarisksd.com/

nonmember avatar andie

Joanna I fought cancer years ago with the help of Vanderbilt Ingram Cancer Center, and I won! Cancer free for 6 years now. Bless you and your family and keep the good thoughts coming! Enjoy your blog very much.

nonmember avatar Karin

Thanks for sharing this. I have been putting off having the test done as well as putting off going in to meet with the high risk experts at Vandy. Your blog made me realize I must go now, not wait. Thank you.

nonmember avatar Shanna Gustafso

Great resources for women with BRCA mutations now exist!!



lkm091 lkm091

How are insurances with this process?  From what I understand, they don't cover any of it even though (in my mind) it is preventative!  Anyone know?  My mother and I both want to be tested, but are afraid of the insurance nightmare that may follow.  Thanks!

nonmember avatar Monika Ridley

My mom is a breast cancer survivor and, luckily for me, tested negatively for the mutation. Thank you for sharing your story as hopefully other people can learn from and appreciate what you have been through.

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