How my Genetic Counselor Provided Guidance When I Needed it Most

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I went in for genetic testing because cancer runs in my family: My maternal grandfather had prostate cancer; his sister had an unidentified cancer; my mother died from ovarian cancer; both her sisters have had breast cancer, one of which had bilateral breast cancer, 18 years apart; and 2 of my 3 female cousins have had breast cancer. One cousin tested positive for the BRCA2 gene mutation when she was diagnosed with breast cancer. However, I had not had cancer of any kind.

I was initially found to have a BRCA2 mutation in the fall of 2014, after my cousin was diagnosed and asked that we all get tested. I was my primary care physician’s first patient to test positive, since he had only ordered a few tests before.

My primary care physician was not at all familiar with what to do with me after I tested positive. He told me I needed to speak with a genetic counselor, and I was sent to UCI Medical Center where I met with Deepika Nathan.

Deepika was wonderful! She explained in detail about the gene mutation, and mapped out my family history. She gave me statistics, and spoke with me and my husband about our feelings and how my mutation was going to affect us. She explained that because I had the mutation, our children had a 50/50 chance of inheriting it. She very clearly laid out my options and doctor choices. She also told me that she would be there for me along the journey and that if I had any questions, I could call her (and that has been absolutely true!!).

To prevent cancer from ever occurring, I had a bilateral oophorectomy (removal of both ovaries) with a hysterectomy (removal of my uterus) in July, 2015. Later, on May 25, 2017, I had a skin sparing, non-nipple sparing double mastectomy (removal of both breasts) with flap reconstruction. The surgery took 9 hours, and I was in the hospital for 8 days. I am 14 weeks post-op, and I am starting to feel fairly "normal".

Overall, I am happy with the results, and I am absolutely thrilled that I won't ever have to deal with breast or ovarian cancer. I currently have several friends battling breast cancer, and they are proud of me for the decisions I made to have the prophylactic surgeries. If I waited until I was diagnosed with breast cancer, I would have had to have the mastectomies anyway, in addition to dealing with chemo and possibly radiation. I will never hear the words "You have breast cancer" or "You have ovarian cancer".

Without my genetic counselor and her guidance, I would have been completely lost. My primary care doctor at the time had no experience at all with the gene mutation, and could not guide me in any way. I would have been left to my own devices and trying to find information on the internet. That is definitely not the way I would have wanted to experience this! Additionally, I wound up with phenomenal doctors, and I would not have had them either without her recommendations.

P.S.: My daughter, who is 28, has been tested and is negative! My son who is almost 21 has not been tested yet, but will be down the road.

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