Shannon Pulaski

 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.  

Articles

"I don’t have cancer, but here I am. This is my life. This is my reality. I am BRCA positive."

Let's Talk About Cancer Prevention and the Power of Support

Shannon Pulaski, author, patient advocate and founder of Proactive Genes, learned she was 

 shortly after her mother was diagnosed with ovarian cancer. This genetic mutation meant that she would face a significantly increased chance of developing breast and/or ovarian cancer in her lifetime, for which she underwent prophylactic surgeries and treatments. Since the BRCA mutation could potentially be passed down to her kids, Pulaski was compelled as a mother to share her family health history with her children. 

 Pulaski shared her journey and offered advice to help parents open the door to conversations with their children about their own family health history. She also shared how Proactive Genes helps families start age-appropriate conversations about genetic mutations and heightened risk for cancer.

Videos

At the 36th Annual Miami Breast Cancer Conference, Shannon Pulaski, founder of Proactive Genes, sat down with CURE® to discuss how parents can relate important health information, such as genetic mutations, to children of all ages.

Opening the Door to Communication with Children About Genetic Mutations

My head started spinning as I left my genetic coun&shy;selor’s office. There was just one word from that session that rang in my ears: positive.

It was a word that seemed like it should mean something other than it does. Far from anything positive in the world, I had just learned that I am BRCA1-positive. Carrying this gene mutation means I face up to a 72 percent chance of developing breast cancer and up to a 44 percent chance of developing ovarian cancer in my lifetime.

Earlier that morning, I had been certain that the day would play out differently. After all, the odds were in my favor. How could three of my female relatives and I all draw losing tickets from this genetic lottery? I wasn’t nervous heading to the genetic counselor.

The office was tiny. The waiting room could only fit a couple of people. When my genetic counselor, Justin, called my name, I was relieved to get the show on the road. My 4-month-old twin daughters were home with my mother-in-law, and I was anxious to get back to them. It had been about two hours since I pumped, and I was acutely aware of my breasts. They felt like they might explode. How ironic. Justin was as serious as ever and was clearly uncomfortable with the small talk I was forcing. For a few moments he said nothing at all, and I felt my stomach leap. He slid a piece of paper toward me and began speaking. I did not hear a single word. All I could see were the words in capital letters screaming in my face: positive for a deleterious mutation.

I knew exactly what that meant, but at the same time had no idea what was ahead of me. In that single moment, my whole world shifted. Everything was different. A clear division was drawn in the timeline of my life — the period before I knew I was BRCA-positive and the period after. It isn’t that I regret opting for genetic testing. For me, the idea of not knowing was out of the question. But, when I first learned that I was BRCA-positive, it became all-consuming. I would remind myself that I was a perfectly healthy 27-year-old woman who did not have cancer. But I could not help but conduct breast self-exams at least three times a day. Any twinge of pain and I’d be off googling “cancer.” I was obsessed with the thought that I was going to get cancer, that I was going to leave my girls without a mother, and worst of all, that I may have passed on this gene mutation to them. Everything felt out of my control.

I began to read, absorb and devour any information I could find about the mutation. I ended up reaching out to my genetic counselor again to sit down and hear all the things he’d tried to tell me the day I received the news. We reviewed statistics and discussed all the information I had been reading. He helped me make sense of it, and he connected me with resources like Bright Pink, a nonprofit advocacy organization focused on early detection and prevention of breast and ovarian cancers. Bright Pink became and remains a tremendous resource for support in my life. I met with a lot of doctors and learned about all of my options. With each discussion, the dark fog that consumed me began to lift, and I started to feel like I was on a team. And my team had a clear, decisive strategy for offense on how to beat this gene. Perceiving that I had taken back some control allowed me to feel like I could breathe again. Once that happened, I felt like I could live again.

It has been several years since that day at my genetic counselor’s office. Looking back, I can see that so many of the things that I feared and felt were insurmountable are now my victories. As I look forward, I can see many more challenges that this gene mutation will force me to face. With each, I remind myself of my personal mantra: Learn as much as you can; control as much as you can; then, let go and breathe as much as you can. Being BRCA-positive can be really over&shy;whelming at times, but having knowledge and a really great team can show you that you have options, which allows you to take control of your health, be proactive and feel empowered.

SHANNON PULASKI, her husband, MATT, and their daughters stand together in 2013.

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 

For one woman with a BRCA gene mutation, information and teamwork brings a sense of control.

Positively Deleterious

Author and patient advocate Shannon Pulaski discusses the importance of learning her family’s health history — something that hardly ever crossed her mind until her mother received an ovarian cancer diagnosis.

Pulaski, who is the author of the book “Mom’s Genes,” tested positive for the BRCA mutation, and now advocates for other people to learn their family health history and start that conversation.

A cancer diagnosis can lead to discussions about family health history, as well as a whole new world to learn about.

Learning the Lingo of Cancer

WHEN I WAS 27, my husband and I welcomed our twins into the world. Their story began when they were born exactly two months early. Ten days later, in that same hospital, my mother started a new chapter in her life when she was diagnosed with ovarian cancer. I spent my days running between the floors of the hospital to visit my mother and my daughters. One generation up; one generation down — just two floors apart, but their stories were more closely connected than any of us understood. 

Not long after my mother’s initial diagnosis, we discovered that she was BRCA1 positive. Being positive for a mutation in this BRCA gene meant that she faced up to a 72 percent chance of developing breast cancer and up to a 44 percent chance of developing ovarian cancer over the course of her life. It also meant that there was a 50 percent chance that she had passed this genetic mutation on to me.

When my daughters were 4 months old, I decided to undergo genetic testing. My genetic counselor had me spend a lot of time gathering and outlining my family tree and my family’s health history. He explained my risk of carrying the gene mutation and drew my blood. Weeks later, he called and asked me to come into the office. My results were in. I took one look at his face and knew immediately that I, like my mother, am BRCA1 positive. 

Back when I first got tested, my daughters were so tiny that it was not possible to have a meaningful conversation with them about this diagnosis, but it definitely shaped our story going forward. Today I am blessed with three children: my 7-year-old twins and my 4-year-old son. I often think about whether they have inherited the same gene mutation I carry. I wonder how I can provide them with a framework for understanding how this genetic mutation has profoundly affected our family’s history. My family has many more BRCA obstacles yet to come. There is no doubt that my children will have questions. I knew I would have to find a way to answer them. 

I decided I would tell them a story — our story.

Whether around our dinner table or in the car on the way to soccer practice, my family loves to tell stories. In fact, my children love telling stories so much that they often create small picture books for my husband and me. Every day, I am in awe of their creativity and ability to learn through the stories they tell. It was from their works that I was inspired to create a picture book for young children, “Mom’s Genes,” that would help us start a much-needed conversation about our family’s health history. Because my children are still quite young, I knew I would have to approach this conversation slowly and in a way that they would understand. By lightly introducing the concepts of genetics and family health history, “Mom’s Genes” was meant to ignite that first conversation so that we could eventually dive deeper into these issues.

One day at breakfast, I told my children that Mommy had written a story. It was a wonderful experience to share the initial draft with them. They immediately started giving me detailed descriptions of what the illustrations should be. Sitting and sketching out ideas for “our story” became one of our after-school activities. All the while, I was introducing them to the story of their genes. As a result, they began recognizing and talking about genetic traits that they may have inherited from members of the family. Then, when the children were concerned about my frequent medical visits, the book helped me explain that my doctors know my family’s health history and use it to do plenty of checkups to keep me healthy. 

As genetic information and testing become more readily available, they will have a tremendous  impact on medical decisions going forward. Families with certain genetic mutations face many complex and personal choices, including how and when to share such information with their children. It is my hope that “Mom’s Genes” will help parents start conversations with their young children about their own families’ health histories and encourage their sons and daughters to be proactive about their health and wellness starting from a young age. 

Families with certain genetic mutations face many complex and personal choices, including how and when to share such information with their children. Mom's Genes is here to help.

Starting a Conversation

Some moments in life get seared into your brain. Years later you can picture exactly what you were wearing. You can conjure up the smell of the room.

Most moments aren’t like that. Whole months and years fade away to nothing. Who was my sophomore-year history teacher in high school? No clue. I can’t for the life of me remember. But ask me where I was at roughly 10 a.m. on June 10, 2011, and I can tell you every detail.

I was 10 days into being a parent. My brand-new baby girls had been born two months early. A few days after being discharged, I was not allowed to drive, so I had to come up with a plan to get to the hospital to see the girls. Usually, my mother would have volunteered as my personal chauffeur, but on this day, she had a doctor’s appointment. Luckily, a friend was eager to help. I threw on my comfiest pair of sweatpants and rushed to get out the door. As I headed down the stairs, my phone rang. When I answered, immediately all the air was sucked out of the room. My mother was sobbing and unintelligible.

I had no idea what she was talking about — no idea it was even on the table. It came out of nowhere and fell on me like a ton of bricks.

“Mom, what are you talking about?” I quizzed. My mother let out a deep sob, almost a scream. “Where are you now?”

“OK, I am on my way. You can’t drive like this.”

“Mom. Stop. I am getting in the car. Take a deep breath. Tell me exactly what the doctor said. How does she know?”

“Your father is on his way. You need to get to the hospital for the babies. Don’t come here.” She was insisting now, with an edge in her voice that let me know she meant it.

“Well, at least talk to me until he gets there. What happened?”

As I listened, I realized our world had changed. That’s what happened.

Before her diagnosis, my mother visited her gynecologist six times in a year. She complained of irregular periods that were very heavy. She told the doctor of her frequent need to pee — nearly all the time. She explained to her doctor that she was gaining more and more weight, even though she felt full after eating very little and was regularly attending Pilates classes with her friends. I recall my mother asking me if her stomach should be getting harder and bigger from ab exercises. I laughed and told her that is not the way it works, and maybe she should attend a few more classes.

It was the mass growing, but we had no idea.

Weight gain, feeling full, irregular periods and the frequent need to urinate can be telltale signs of ovarian cancer. You hear people say that ovarian cancer is a silent killer, but my mother’s cancer was screaming. And my mother was vocal about her concerns with her doctor, yet that doctor was fixed in her ways and short on bedside manner. Her doctor handed her pamphlet after pamphlet on menopause.

My mother pressed; the doctor continued to dismiss: “Oh, you are premenopausal, honey … We all go through the change ... That is nothing more than a fibroid.”

She offered no tests. She sent my mother on her way.

So the ovarian cancer learned to scream a bit louder. My mother began to experience pain from what she thought was a urinary tract infection. She took some antibiotics, but soon the pain spread to her back and made her day-to-day activities a bit difficult. Heartburn and indigestion kicked in. She burped a lot.

Finally, my mother quietly made an appointment with her primary care doctor. When he saw her, he was shocked. In a not-so-sensitive way, he told her she looked as though she was five or six months pregnant. He felt the mass that my mother once considered a budding six-pack and knew. He recommended she go get a transvaginal ultrasound that same day.

Sensing his tone of urgency, she got the test immediately and requested that the results be sent to him and to her gynecologist. She also made an appointment with her gynecologist for the next day.

That evening, my mother’s gynecologist called her and asked why her doctor had sent her for a transvaginal ultrasound. My mother explained that her doctor was concerned about her extended abdomen and believed that perhaps her uterus was enlarged. The gynecologist was short and to the point. She told my mother that her uterus was not enlarged. That was the end of the conversation. My mother considered canceling her appointment for the next day, but something made her go — a feeling … an uneasiness … a scream she could no longer ignore.

When she got there, she waited nervously in the waiting room for what felt like hours. She was eager to get in and out of this appointment so that she could visit her grandbabies. After what felt like an eternity, her doctor came in and performed an exam. The doctor assured my mother that her uterus was just fine and asked her to meet her in her office. Overcome with relief, my mother quickly dressed and almost ran down the hall.

She had only a foot in the doorway when her doctor flatly delivered the news: “Your uterus is fine, but you have ovarian cancer. I am surprised I missed that. I pride myself on being good at finding that.” She seemed more disappointed in her record than in the news she was delivering to my mother. She quickly wrapped up the appointment, leaving my mother beyond distraught. No comfort. No kindness. Not even a suggestion that perhaps she should call someone to drive. Just a cold clinical diagnosis and no directions on how to move forward.

That moment froze in time. The world moved at a rapid pace all around us, but we all stood still.

In the days and months that followed, ovarian cancer became a new language that we all had to learn to survive in this new world. Through the grace of God, my mother found a team of doctors she trusts and that has guided us through the continuing challenges of this disease.

According to the American Cancer Society, every year an estimated 22,440 new cases of ovarian cancer are diagnosed. Ovarian cancer is the fifth leading cause of death related to cancer for women. However, if caught early, it is estimated that the survival rate is 94 percent.

While they say ovarian cancer is a silent killer, it does not have to be if you know the symptoms. Understanding what is normal for your body and recognizing when something feels off is key to being your own health advocate. Symptoms of ovarian cancer can include abdominal swelling, bloating, feeling full quickly after you eat and/or the frequent need to urinate. If you experience these symptoms continuously for two or more weeks, communicate these changes in your body to a doctor you trust. Asking your doctor “Is it my ovaries?” could make all the difference.

Today, my twins are six, and luckily for us, time stood still again when my mother took them to see the Statue of Liberty for the first time this summer. The boat ride … the weather … the dress my mother wore … I am so thankful that I can remember every detail.

Shannon Pulaski volunteers as an Educational Ambassador for 

, a nonprofit advocacy organization dedicated to teaching young women to be proactive in the detection and prevention of breast and ovarian cancers. Shannon is a business and intellectual property attorney and serves as counsel to Cure Media Group, LLC. In addition, she serves on the Young Leadership Council of the 