"I don’t have cancer, but here I am. This is my life. This is my reality. I am BRCA positive."
I’m driving down a pleasant, tree lined road, but my stomach is in knots as I drive around the bend. The building is right before the highway. If I had driven ten more feet, I would have missed it. I could have hit that highway and driven straight to the shore. Sure, it’s January, but I could have put on a couple sweaters and watched the ocean roll in and out. It could have been a break. I could use a break. A moment to breathe. But I am paying attention and see the building. It’s an effort to stop, but I muster some strength, and I resign myself to park the car. The building looks like a large corporate office complex, not like a hospital. I hesitate, half hoping that I am in the wrong place. Until the sign stares me in the face, and I can’t unsee it. “Cancer Center.”
I don’t have cancer, but here I am. This is my life. This is my reality. I am BRCA positive.
Of course, I’m late. I had to drop my son off at the sitter so I could be here. I won’t have much time before I must get back to him. I run through the door still feeling heavy from the sign’s blow. My sister and husband are waiting for me. I breathe an audible sigh of relief at the sight of them.
The woman at the desk smiles kindly with a hint of what I interpret as pity. She thinks I’m here because of something devastating. I want to explain, oh, no I am not here for that. But it feels wrong, so I don’t. She walks us to a waiting room and offers me tea. They love to offer tea here. “Tea or hot chocolate?” she asks. I smile back and decline. Really, I’m fine. I shouldn’t be here. I’m just taking up time. Maybe I should go. But I stay.
Carrying this gene mutation means I face up to an 75% chance of developing breast cancer and up to a 50% chance of developing ovarian cancer in my lifetime. Both my mother and my aunt were diagnosed with ovarian cancer in their fifties. Today, I’ll be meeting with a gynecologic oncologist to discuss my surgical options to reduce my risk of ovarian cancer. I am 33. These options will mean that I will not be able to have any more children without fertility preservation. Some of these options will mean a throw into early surgical menopause.
We move into an exam room and the nurse notes that she doesn’t have much information about me. I smile and say there isn’t much information to share. This is a lie, and I know it. With this BRCA gene mutation, I see a whole host of doctors on a regular basis to ensure as best I can that I am ahead of a cancer diagnosis. So, when the nurse starts her series of questions, I know them by heart. Yet, for some reason, I lose the ability to answer her coherently. I am an attorney. Communicating clearly is a big part of my job, and yet, I can only get out a few child-like answers while I fight back tears. It’s very strange.
We start by outlining my mother’s cancer history, and then detail my aunt’s. I explain that there was a lot more cancer on my mom’s side, but I am not sure about the specifics. “There might have been colon,” I stutter. “I don’t know, I think it was all ovarian.” She gives me a look. I wonder what is wrong with me? I have my family health history memorized, but here in this appointment I’m struggling to get the words out. I tell her, maybe, half of the information I know to be true.
The nurse hands me a gown, but I push back. “No. I just want to talk to the doctor today. I don’t want to be examined,” I explain. “Oh, no, she does an exam.” She pressed the gown back into my hands, and I don’t fight it. Why don’t I fight it? I am here to interview this doctor. I should be in control. But now, I am stripping down and frown at the thought that I must meet this woman for the first time between stirrups. The nurse checks my vitals and then starts questioning my current surveillance plan. Right now, my plan consists of alternating every six months between a transvaginal ultrasound and a physical exam with my ob-gyn. I elect to skip a CA-125 blood test because it causes me a great deal of anxiety after years of watching my mother wait with bated breath for her own CA-125 results every three months.
CA125 is a protein in the blood that is sometimes elevated in women with ovarian cancer. However, it is not always a reliable marker for young women who have yet to be diagnosed with ovarian cancer. There is still is no reliable way to surveil for ovarian cancer. That’s why it is often discovered at a late stage. The nurse’s questions make me feel panicky even though I know that I trust my current doctors. A sick feeling falls over me and settles into the pit of my stomach. She finishes up and tells me the doctor will be in in just a moment.
Ten minutes go by, then twenty. Thirty. I am shivering in the gown not because I am cold but because I am terrified of being in this place. Each passing minute makes it worse. Where is she? Then I realize she is probably in with a patient. A patient that has cancer and deserves every single second of the doctor’s time and energy. That patient truly needs to be here in this cancer center. Guilt overcomes me, and I sink back into the chair. My sister is telling my husband a story. She’s trying to lighten the mood in the room. She is nervous too. She might be in this seat soon. I know she’s thankful that won’t be today.
I’m thankful she is there. My husband too. I’m thankful that my phone keeps lighting up because my best friends are blowing it up right at this moment to make sure I get through this appointment alive. Most days, I feel empowered by the knowledge of my BRCA mutation. I encourage others to learn their family health history and to seek genetic counseling, if appropriate. I regularly offer peer support to men and women who have BRCA gene mutations. It doesn’t make me invincible. The weight of this mutation is still heavy on me. I am so fortunate to have support.
When the doctor walks in, I take a deep breath and sit up straight. I muster my strength one last time and say, “Hi, doc. I’m Shannon. This is my sister. She’s going to help me tell you about our family health history today.” And I lean on her.
SHANNON PULASKI is an attorney, avid patient advocate, wife and mother of three. She volunteers as an ambassador for Bright Pink, a nonprofit advocacy organization focused on early detection and prevention of breast and ovarian cancers, and serves on the Young Leadership Council for the Basser Center for BRCA at Penn Medicine’s Abramson Cancer Center in Philadelphia. Pulaski is the author of “Mom’s Genes,” a book that aims to empower children to learn their family health histories. “Mom’s Genes” is available on Amazon in print and as an e-book. Learn more about Pulaski’s story at proactivegenes.com.
This article orginally appeared on basser.org