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    Posted September 30, 2012 by
    NSeagriff
    Location
    New Haven, Connecticut
    Assignment
    Assignment
    This iReport is part of an assignment:
    Tested for the breast cancer gene?

    Genetic testing for breast cancer saved my life at age 27

     

    CNN PRODUCER NOTE     NSeagriff turned 27 in June and says people have been 'amazingly kind and supportive' throughout the process of getting genetic testing and the mastectomy.

    'People might have thought it was an aggressive treatment decision, but with what my family has been through with this disease, we have no option but to act aggressively.'

    She and her mom are practicing for the Avon Walk for Breast Cancer later this month, at which she has been invited to give an opening speech.
    - dsashin, CNN iReport producer

    Growing up with 3 first-degree female relatives with breast cancer diagnosed before the age of 45, the idea that I was at very high risk for the disease was no foreign concept. However, never in my wildest dreams did I think that my own breast cancer diagnosis would come just days after my 27th birthday.

     

    My family’s story with breast cancer actually begins well before I was born. My maternal grandmother passed away from the disease when my mom was just 4 years old and my mom’s younger sister was diagnosed when I was in my early teens. A few years after my aunt’s diagnosis, my mom too found out she had breast cancer, which was thankfully caught early due to vigilant screening. Having seen the devastating effects of breast cancer on her family, my mom opted for aggressive treatment with a bilateral mastectomy to minimize her risk of reoccurrence. Immediately after surgery, my mom wanted to go for genetic testing. She wanted me to be aware of my potential genetic risks given our family history so that I could be proactive about my health. At the time, I was too young to appreciate the fact that genetic testing can provide lifesaving knowledge, as the age I perceived I would be at risk for breast cancer seemed so far away from my 16-year-old mind. I also read about feelings of guilt bared by parents who go for genetic testing and I didn’t want my mom to feel any sense of responsibility about passing the gene to me if I were to come back positive. We put the genetic testing conversation on the back burner and went on with our busy lives.

     

    Unfortunately, a few years later my aunt’s cancer returned and after bravely opting for more chemotherapy and radiation, she passed away a year before I graduated with my master’s degree as a nurse practitioner. Ironically, one of the biggest reasons I wanted to become a nurse practitioner was to work in primary care with a focus on preventative medicine to be able to help my patients use early detection to catch diseases such as breast cancer at the earliest stages.

     

    Little did I know that this would be what saved my own life.

     

    Right before taking an exciting opportunity to participate in a Family Nurse Practitioner residency program, I had to go for a physical for medical clearance for the job. When the Physician Assistant went through my family’s medical history, she highly encouraged me to go for genetic testing. Between her advice, my mom’s instinct and my own education, I knew it was time we pursued genetic testing.

     

    About 14 months ago, I arranged an appointment at a genetic counseling center. As standard protocol, my mom was tested first and came back positive for the BRCA2 mutation. I went for testing a few weeks later recognizing that I had a 50% chance of having the gene. My test also came back positive. It was a scary result, but not something that was very surprising to us given what our family had been through. My family and I decided not to see this as something that was bad, but rather as something that could help us make informed decisions. One of the most interesting pieces of information I learned from genetic counseling to help these decisions is that the BRCA mutation does not mean I have a gene that will give me cancer, instead it means I am lacking a gene that provides protection from cancer. This meant I needed to be my own protection.

     

    I was provided the name of a high-risk medical oncologist who I met with several months later. She ordered an MRI for baseline screening which surprisingly showed a suspicious area. I was told not to worry but that this area warranted further testing, including an ultra sound and eventually a core needle biopsy. I didn’t tell a lot of people I needed to have the biopsy. After all, I was young and healthy. Statistically at my age, even with being BRCA2 positive, my chance of having cancer was so small I decided it wouldn’t be worth making everyone nervous for what I thought would be a negative test. I figured there would be 15-20 years worth of false alarms because of suspicious areas before a concerning diagnosis, so I didn’t want to cause my family undue distress. Right after my biopsy, my nurse’s instinct told me something wasn’t right. I asked the radiologist what she thought was going on and I will never forget her answer. She said, “its not always cancer when it looks like that” referring to the results of my previous tests. Every bit of her body language and tone in her voice made me realize she thought it was cancer. I felt completely shocked. Cancer was the last thing I thought it could be at my age, but this was the first time I heard that it could become my reality. Two days later, I found out the biopsy did show breast cancer. The oncologist told me we caught it early and from there things moved very quickly and decisions had to be made fast.

     

    Since there was already an invasive component to my cancer and given my very high long-term risk of recurrence due to genetics, it became evident to me that bilateral mastectomy made the most sense for my treatment. I couldn’t imagine going through this again or living through the fear and the dread associated with frequent testing if I did lumpectomy or a unilateral mastectomy. My family and I decided it would be best if I had my treatment in the same place as both my parents (my dad is cancer survivor too!) and we made an appointment with the same breast surgeon who operated on my mom. Strangely enough, the surgeon had the same visit with my mom 10 years and 5 days before mine.

     

    I had a bilateral mastectomy August 3rd 2012 and have one more surgery in December to complete the reconstruction process. My pathology reports were much better than anticipated given the initial biopsy results and because of my aggressive surgical option, I did not have to undergo chemotherapy. Recently, I started a medication called Tamoxifen, which is chemoprevention, and if taken for 5 years can decrease my risk of recurrence by 50%.

     

    There still are some occasional hard moments when I think about the appearance of the scars or the fact that I won’t be able to breastfeed my future babies or when I feel some of the side effects from the Tamoxifen. However, when I start to think about those things I can’t help but be humbled by an overwhelming sense of gratitude. In those difficult moments, I think about how different my life would be if the cancer had an additional 3 years to grow and spread before we caught it as screening often begins at 30 for those with family history. I am grateful we caught the cancer at an early enough stage that I did not need chemotherapy, which I saw my aunt saw undergo with such grace despite the difficult treatments. I am grateful the same disease that caused my family so much heartache and pain for generations now has a happy ending because it was caught before it could cause irreparable harm and I am back to full health.

     

    I refuse to see this as anything but a blessing in my life, a mere speed bump in my path to an exciting future. Given all that has happened over the past 2.5 months, surprisingly, I wouldn’t change a thing. I have seen incredible kindness from people, including my surgeons, strangers, co-workers, family and friends which. I especially wouldn’t change that we went for genetic testing. My DNA is what it is and no one has the power to change genetic make up. However,I do have the power to decide what I will do with the information we acquired and my attitude as I make decisions related to my health since I do have to be concerned about other types of cancer, including ovarian cancer. Although some people may think finding out they have a genetic predisposition would be devastating, in my family, we view it as something positive. It gave us advanced warning of something that could cause our family harm and is how I caught my cancer early. We decided a positive attitude and lots of family support would get us through all of this and whatever comes our way... maybe that’s also genetic!

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