I was 29 years old when I found myself sitting in the Oncologist office, waiting for the results of my genetic testing. Just moments before I had been seated in the waiting room, feeling out of place. All around me were the women of my mothers’ generation and older, accompanied by their husbands for emotional support. I could only assume that these women were battling cancer; Everywhere I looked they sported the brightly colored hair wraps to hide the thinning of their hair, and many were wheel-chair bound. I felt out of sorts and humbled to be in their presence. Only moments before I had felt young and vital; A spirited mother of 2 daughters. Now I was moments away from the coin flip chance that I had inherited a gene mutation from my mother that would increase my chances for breast cancer.
It had been an emotional year that year, as my own mother was diagnosed with breast cancer. She already knew there was a risk in our family, as three of her sisters had been diagnosed, and one of her nieces before the age of 40. When my mom called to tell me she had cancer, the treatment dance began. She opted to have the lump removed, but decided to forgo having any lymph nodes removed. The cancer was invasive, but she chose not to undergo Chemo. She was 67 years old; the lump was removed successfully with clean margins. Her choice was a simple one; quality over quantity. Her diagnosis of breast cancer did however open the door for her to take part in genetic testing. This is where the genetic mutation became known to us.
Most people have heard, and live in fear of, the Brca gene 1 and 2. It is a gene mutation that nearly doubles your chance of getting breast or ovarian cancer. My mother did not have the Brca gene, she has the ATM gene (single copy).
As I sat in the Oncologist office, I couldn’t help but wonder if I had made the right decision to be tested? There wasn’t much known about this gene mutation, other than it makes those who inherited it more sensitive to radiation. With a diagnosis of breast cancer, and an inherited ATM gene, my mother was unable to have radiation; it would have made her worse. She simply made her choice to remove the lump and go on living her life. Three years later she is happy with the decision she made.
My coin flip of a chance that I would inherit the mutation was positive. I had inherited the single copy mutation from my mother, and now I would live my life knowing I had a higher risk of getting certain types of cancers; breast cancer being the most prominent. Before I was even told of the positive result, I had come to terms with having the mutation. What I was unsure of was whether or not I had truly wanted to live with this knowledge. With my mothers’ official genetic testing and breast cancer diagnosis, it opened the doorway for my sister and I to be able to get genetic testing done, without the insurance implications. My sister opted to not get tested, but I knew that for me I had no choice; I had two daughters. If I had inherited the mutation, then they would have the same odds of inheriting it from me. I didn’t want to know for myself, but I needed to know for them.
The positive test result was like finally letting out the breath of air I was holding in. Now I knew, and I could move forwards; I just didn’t realize that moving forwards with this knowledge would horrify me more than the results themselves.
I didn’t like my Oncologist. If I had been seeing her because of a cancer diagnosis, I would have asked for a different doctor immediately. She didn’t make me feel at ease, or like I was in a safe place. She made me feel like I was sitting in a cold, dark, hospital room all alone. After delivering the news to me that I had this gene mutation, she immediately launched into treatment plans. Treatment plans for a risk, not the disease itself. She listed off things such as removing my breasts entirely, or beginning to take anti-cancer treatment drugs (with side effects like blood clots and pre-mature age symptoms). I no longer felt like a care-free spirited 29-year-old; I felt like my life was heading down a path of needles, doctors, and pain. All because of a risk I inherited.
My oncologist wanted to schedule me for an MRI the following week to make sure my breasts were in good shape, and then mentioned having me do a mammogram every other year, alternating between an MRI and mammogram. Her reasoning behind this was due to the radiation risk; a Mammogram has radiation, and she wanted me to have regular screenings while still reducing my exposure to radiation.
I opted to schedule the MRI for a few months away, after my 30th birthday. I left her office shaken, and in tears. I wasn’t ready for this reality I had just been given. Everywhere I looked in my family I saw breast cancer, and I feared that an MRI would show that I had it too. My genetic results haunted me for months; fear hung over me like a dark cloud. I was all too happy to cancel my MRI as soon as I found out I was pregnant with my third daughter.
Pregnancy with my third child allowed me to look forwards to something. My mom was doing better after her surgery, and the ATM gene started to feel like just a bad dream; until I found a lump in my right breast. I remember sitting on the couch next my husband, feeling my baby kick inside me. I was absentmindedly rubbing my breasts, when I felt the lump. Tears immediately sprung into my eyes, and I felt the rising sense of panic. The doctors’ office got me in the next day, and my OBGYN didn’t feel concerned about the lump; They would check it out after I delivered. It took the shine off the pregnancy and the impending arrival of my daughter. I had just turned 30 years old, could I really be facing breast cancer already?
After the birth of my third daughter, I accepted my reality and went in for the ultrasound of my lump. It was benign! I nearly wept with joy, finally feeling like I could breathe and enjoy my newborn. It was short-lived when I found another lump. This time my OBGYN suggested I have an MRI just to rule out any other impending lumps. I agreed with this decision, and went into my first MRI just before Christmas 2016. The results were good, and I could breathe another sigh of relief; but I knew I needed to be honest with myself. This was going to be something I needed to stay on top of. Whether I had liked my Oncologist or not, I had to agree with her suggestion on the yearly screenings of MRI and Mammogram.
My family relocated from Connecticut to South Carolina shortly after my MRI, and I unleased my medical history on my new doctor. I was not surprised to see her confusion at the mention of the ATM gene; Other than my Oncologist, none of my other doctors seemed to know what it was. I was honest with my new doctor about the screening plan my Oncologist had mentioned. She wrote down in my charts that I would have a mammogram the following year. Just before Christmas 2017, I went into her office for my annual checkup, and she submitted the referral for my mammogram.
Sitting in the waiting room of the breast center brought back memories of the Oncologist. Around me sat older women dressed in the same maroon robe, waiting for their name to be called. They seemed at ease, while I nervously fidgeted. I didn’t know what to expect from a mammogram; I had nothing to compare it too.
The mammogram itself was far easier than I imagined it would be. My nurse was pleasant, explained everything she was doing, and worked quickly. There was no pain. The hardest part was sitting in the back room, waiting for results. I had no new lumps, no pain, just the fear of the results. Living with the knowledge of this mutation would always loom over me, I have come to terms with that. I anxiously flipped through the magazines while I waited, trying to keep my mind occupied. The nurse re-entered smiling, telling me my results were clear, and I could go.
The future is always uncertain whether you live with a genetic mutation or not. I left the breast center that day knowing I had made the right choice to follow through with regular screenings. The knowledge of this genetic mutation has caused me anxiety, but it opened the door for me to be screened at a younger age than most women. If I didn’t have children, then perhaps I would have made the same decision as my sister, and chosen not to undergo the genetic testing. With three young daughters at home, I knew my choice. I was doing this for them; I will always do this for them.