I was about 23 the first time I asked my OBGYN about my risk of developing breast cancer. I had been watching one of the characters on the 90210 reboot deal with a BRCA diagnosis, a more common genetic mutation effecting breast, ovarian and pancreatic cancer. I had recently discovered my paternal grandmother had died from breast cancer long before I had come onto the scene. My doctor said because it was my dad’s mom and not a first-degree relative, I was at no higher risk. I spent the next four years asking each OBGYN I saw the same question with the same response until finally, I found a doctor who knew of an inexpensive test that I could afford out of pocket. Three weeks later I got the call that my results were in, I tested positive for a rare genetic mutation, PALB2. Within minutes I discovered that my chances of getting breast cancer within my life went from 7% to somewhere between 33% to 58% according to a study done by the U.S. National Library of Medicine.
With Covid-19 in the height of its devastation across the world, I debated on skipping my OBGYN appointment because I was back home staying with family but thought better of it. I made an appointment at a women’s health center that I used to go to in college. Of course, as had been routine for me up to this point, I asked about genetic testing, this time there was a new response. The doctor informed me that there was a relatively new test that marketed at $249, called Color. After seeing the previous price, I jumped at the opportunity. About 5 minutes later, I was spitting into a tube with a nurse who informed me that it was her first time administering the test. Not exactly a confidence booster, but I fought for years to get this done and, that wasn’t going to stop me.
A wave of excitement rushed over me. I was finally getting the test that loomed over me at every doctor’s appointment. Then, of course, the reality of the situation set-in. As I walked outside to my husband waiting in the car, I realized that if the test came back positive for one of the 30 genetic mutations, our lives would change forever. I went home that night and had reasoned that my odds of actually having anything were slim to none. As every OBGYN had told me before, it was my paternal grandmother, not a first-degree relative. I had effectively convinced myself that it would come back as negative until I got the call.
As the nurse delivered the news, my hands started shaking, tears welling up in my eyes, it wasn’t BRCA, but it carried some of the same weight. As I would later come to find out, it’s just a step down from BRCA 2. It communicates with the gene telling it to stop tumors from growing. My choices, as I heard them described to me, were to live in fear with increased screening, or to remove both of my breasts to bring my chances back down. This wouldn’t eliminate the gene in my body completely, but it would take away the part of my body with the biggest risk. I will still have to spend the rest of my life at an elevated risk of ovarian, pancreatic, and possibly colon cancer, as new studies are suggesting.
As I hung up, I frantically searched for the pamphlet I was given after taking the test, trying to search for answers on my own. I found a number on the back with information about setting up a meeting with a genetic counselor who could explain my results and called immediately. They set-up an appointment for the following morning, but that wasn’t soon enough. I wanted to know what was going to happen from here, so as any good millennial would do, I started Googling. Of course, since this is a relatively new genetic disorder, this presented me with contradicting articles and information. All I knew for sure was that my chances of breast, ovarian, and pancreatic cancer had increased, and I had a 50% chance of passing it onto a child.
I called my family to let them know that because this is a genetic mutation, any one of them could be carriers. Luckily, through Color testing, my mom, dad, and brother could take the test for only $50. Selfishly I was also hoping that by announcing to everyone my results, someone would know someone who also received the same results as me. After a couple of days the calls started coming in, one friend announced that her sister, a doctor in Seattle, knew of a program at Memorial Sloan Kettering. They specialize in genes that increase breast cancer risks, I immediately called and set-up an appointment with the RISE program in New York City, where my husband and I live.
Through the panic of finding out about my genetic mutation, my first thought was that I wanted to be surrounded by a tribe of women who understood what I was facing. I’m 28, in my first year of marriage, and after speaking with the genetic counselor, she told me a lot of women my age choose to have a double mastectomy. Of course, all I can think in my 20-something-year-old mind is, “will I be able to keep my nipples.” If I’m going to lose feeling to a part of my body I want to at least look normal. Although I’ve been living the good feminist fight, I’ve never felt the need to give up my femininity, and for me retaining the skin of my entire breast feels important to my mental health. Of course, as my husband said, I’ll look a lot sexier alive.
I’m trying to take this one day at a time while also projecting 5, 10, 20 years into the future of handling my genetic mutation. I’ve never been so aware of my breast, suddenly finding myself checking in the mirror, trying to remember them before I may have to lose them. Realizing now that IVF is very much a reality for my husband and me so that I don’t pass this onto our children. In all honesty, I cry more than I used to. At some point, I started to hold out hope that it was all a bad dream, a false positive until I received the call that they had localized the source. Whenever the overwhelming fears set in, I try to stop, take a deep breath, and remember that I was one of the lucky ones that caught it before it developed into cancer.
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