Why I’m Forever Grateful for My Genetic Mutations


As her seven-year cancerversary approaches, one patient with metastatic breast cancer shares why she is grateful to be a 'mutant'.

If you had told me a little over three years ago that my hysterectomy would determine my current treatment, I don’t think I would’ve believed it. As my seven-year cancerversary approaches in March, I am grateful now to be a mutant.

The hysterectomy surgery took place on an October afternoon in 2017 at City of Hope in Duarte, California. The drive alone takes, at minimum, an hour and a half from my home due to Los Angeles traffic. I don’t really remember much from the surgery besides being wheeled into the operating room. I do recall after it was over, looking up to see my boyfriend Josh at my bedside trying to talk to me. At that point I still had oxygen being forced through my nose and I could barely open my eyes. I kept repeating to him, “I’m so tired. I’m so tired.” That was all I could manage to say over and over again until he said goodnight to me and drove home only to return to pick me up the next day.

A couple of hours after Josh went home, I finally woke up and noticed a glowing red device on my index finger. It was a pulse oximeter; although in my post-anesthesia mind I was E.T. the extra-terrestrial for that moment in time, reliving the famous “Ouch” scene. The only thing missing were some Reese’s Pieces.

photo of a pulse oximeter in use

I have no idea what kind of anesthesia they gave me. What I do know was it made me loopier than a Froot Loop and incredibly nauseous. Also, for some reason, my catheter was not working properly, requiring a lot of extra fluids to get things moving again. By the next morning when I felt up to drinking some water, the catheter started working again. I think I was just so dehydrated from the bowel prep for the surgery and the hysterectomy itself. That afternoon I was discharged and ready for the long drive home to start the process of recuperating.

My adnexal mass, which turned out to be a large tumor attached to my ovaries, that was removed during the surgery was sent off to be biopsied by Foundation One, who does genetic testing, or next generation sequencing, on tumors helping to determine mutations to be targeted and predicting responses with treatments. Some of the gene mutations found through this type of testing have no actionable treatments as of yet. With other mutations, scientists just don’t know enough about at this point. Genetic testing is sort of a crapshoot in that it’s expensive and may or may not have useful results.

Close to a week after my surgery, I was still feeling nauseous when the phone rang. Josh answered the call. It was the oncologist from City of Hope with some exciting news. My tumor had a somatic BRCA2 mutation. I did not have the germline, or inherited, BRCA2 mutation but my tumor did. Josh told me she was talking so fast and seemed very enthusiastic about this revelation. That was the last time we thought about genetic mutations for a while. After the hysterectomy, I was put on a new treatment regimen consisting of Afinitor (everolimus) and exemestane. I was fortunate to have two and a half years with this line of treatment.

The BRCA2 mutation didn’t really mean much to me until last March, when my cancer progressed to my lungs and all of my oral options had been used up. Having the somatic BRCA2 mutation, it was decided I would try Lynparza (olaparib). The results have been, in my opinion, nothing short of amazing. The lung nodules immediately started to shrink and my tumor markers have been consistently in the normal range for the last year. Who knew being a mutant could be a good thing? I certainly didn’t in October of 2017 when I felt like E.T.

And so it is, the marvels of modern medicine and the hopes to be around for the next discovery. Seven years with metastatic breast cancer and I’m still here to talk about it. I am and will always be forever grateful to all my doctors, family, friends and genetic mutations.

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