I tested positive for the Chek-2 mutation. Call me.
I received this text from Rachel at around 8:30 pm, right in the thick of the bedtime ritual. Rachel is my best friend from camp. For four summers in the nineties, we spent every night together hanging out, talking about boys and learning how to insert tampons. During the intervening school years, we would make each other mix tapes and chat for hours on the phone. Though we remained close over the following decade, our lives diverged greatly during college. She married super young, at age twenty, and gave birth to her fourth child while I was mid-residency and still single in NYC. In recent years, as I settled into my suburban life with three children and she pursued a post-graduate degree and became a working mom, our paths had converged once again.
Rachel’s message jolted me out of my nightly exhaustion. Suddenly, I was wide awake in the dark.
I felt like I was standing on a stage leaning into the microphone in my brain.
Testing, testing, check, check…
Ring any bells? Hmm…I don’t think so.
What the heck is the Chek-2 mutation?
I snuck out of Juliette’s bed and into my bedroom office for an intense Pub Med search.*
This is the summary of what I gleaned from available articles in the brief twenty minutes before I called Rachel.
Chek-2 is involved in DNA repair, cell cycle regulation and planned cell death. The assessment of risk depends on the specific mutation in the gene combined with the patient’s family history. The risk with certain pathogenic mutations can double the baseline risk of developing breast cancer. Therefore, with certain mutations of the Chek-2 gene, the increased risk will be in the twenty-percent range.
As soon as I finished reading, I dialed her number.
Tell me everything. How did this come up, anyway?…
When I hung up the phone an hour later, I couldn’t help considering my girls. What if one day, a gene is identified that places them at 1.5-2 times higher risk of developing breast cancer? What would they decide, having witnessed their mother battle Stage III breast cancer at age 36?
I drafted an email to my oncologist, Dr Hussein requesting advice for Rachel. But, before I hit send, I had this nagging feeling that I was missing something…
Despite common misconception, the majority of breast cancer mutation are spontaneous, meaning arising in a person for the first time, rather than inherited from a parent. However, because I was young with advanced cancer, premenopausal and of Ashkenazi Jewish decent, I pursued genetic testing at the time of my initial diagnosis, in the summer of 2013. At that time, my father had just been diagnosed with a brain tumor so there was reason to suspect a familial issue. I had an in-depth discussion of my family history with the genetic counselor at Maimonides Breast Center. Ultimately, I tested negative for mutations in BRCA-1 and BRCA-2, the most common genes associated with hereditary breast cancer.
When I transferred my oncologic care locally to White Plains Hospital in 2016, I again brought up the subject of genetic testing. I remember requesting confirmation that I had the most updated testing available at that time. I remember discussing the transfer of my medical records from Brooklyn. What I did not remember was ever looking at these results myself.
You are all up-to-date.
I was so convinced I had heard those words. Surprisingly, there was no record of this conversation anywhere. There was no evidence of any document transfer from Maimonides in my medical record.
How was this possible? I was a doctor and a surgeon. I could not have gotten this wrong…could I?
I was upset and confused. How could I have imagined this critical dialogue that never took place?
In truth, it didn’t matter. I had to take the advice I give my patients’ parents when they are frustrated: the only way through is forward.
The next morning, I made sure to transfer my previous genetic results, but ONLY after reading them carefully. Then, I called Sara Bienenfeld, a genetic counselor at White Plains Hospital, and scheduled my appointment.
And on that Friday, there I was again. I watched Sara draw my family tree and shade in my circle (female, breast cancer, 36) and the square of my beloved father (male, brain cancer-deceased). There I was again in the Cancer Center, filled with uncertainty. There I was spitting repeatedly into a narrow plastic cup.
Just make sure there are no bubbles below the fill line.
Then, she closed the door.
It takes a surprising amount of saliva to fill that container. This gave me a few minutes alone to think.
So many “what ifs” were swirling in my head.
For now, though, I had no choice but to wait ….
Waiting for test results of any kind is a stress-inducing, nail-biting experience. Over the evolution of my medical career, I have been no stranger to the waiting game. I have waited for SAT scores, MCAT scores and board scores, as well as countless tests in between. I have waited for college, residency and fellowship acceptances. I have jumped at every phone call, shook as I gathered the mail and crossed my fingers before opening many emails. In the personal realm, I have also waited, albeit not patiently. In my early thirties, I found myself single and divorced, having accidentally kissed a frog who did not become my prince. Ultimately, finding my husband, Alex, was worth the delay.
In the subsequent years that he and I struggled with infertility, we waited together many times for positive results. And, finally after numerous cycles of trying, failed attempts, disappointing bloodwork and disheartening ultrasounds, we welcomed our third daughter Milla into our lives. She made an abrupt and grand entrance, rather prematurely, but she immediately knew how to breath and eventually, learned to feed as well.
Six months after her startling birth, breast cancer turned my world upside down. Suddenly, I began to desire the complete opposite. In the realm of cancer, I wanted everything to be negative. My wish had not been consistently granted, especially when it came to my pathology results.
“Positive margins in the nipple.”
“Positive for nodal spread in 18 out of 24 lymph nodes.”
“Positive for lymphovascular invasion.”
But so far, in terms of heritable risk for breast cancer and BRCA mutations, I had been fortunately negative. Four years later, awaiting the outcome of my newly updated genetic testing, dare I hope again?
In my medical practice, I interact with a lot of infants and children with multiple physical and developmental abnormalities. Often, they are suspected of having a genetic syndrome that ties all these anomalies together. The process of figuring this out can be painfully long. It begins with a chromosomal microarray which detects extra or missing segments of genetic material or DNA. Often, it does not end there. Each round of genetic testing requires a separate insurance authorization. This can take months to obtain. I am not at home with the families during these tough, long months of waiting. I am not with them in the immediate aftermath, while they process their grief and accept what the information implies for their child. Typically, I am only handed a piece of paper which identifies the genetic error and defines its clinical consequences.
Luckily for me, I waited only three short weeks from the time of my saliva sampling to the arrival of my results. Because I had advanced, locally metastatic breast cancer at age thirty-six, my insurance authorization was rapidly approved.
It was a Thursday evening as I walked out of the operating room and I checked my messages.
“Your results are ready,” a woman’s voice reported neutrally into my phone.
The next morning on my way to work, I parked my car yet again in the semicircular driveway of the Dickstein Cancer Center, just half a mile from my home. I handed my keys to the parking attendant.
“Fifteen minutes. I just need to run in and get something.”
After checking in at the front desk, I was summoned into the small hallway of rooms behind the lobby. I had never been to this area before and I never even knew it existed. Suddenly, I was gripped with fear. I was convinced that being ushered to this new location meant something ominous. As I was invited to sit down by Sarah Bienenfeld, the genetic counselor, my composure quickly melted away.
As I watched her lips form the words, in my mind I heard,
Then she spoke, slowly allowing a smile to permeate her countenance.
I have good news for you.
She paused, while I felt the air filling back into my lungs.
Your results are negative.
And, just like that, my wish was granted.
The problem with cancer, even the “curable” kind, is that you never really know you’re out of the woods. In the oncology medical notes, it never says, “patient is cured.” Rather, it reads, “patient is NED.” This means, the person has no evidence of disease, currently. There are no promises made for future health. The negative results of my testing did not change my personal reality. The fear of recurrence will still hang over me, most likely for decades. Still, I had already mourned the loss of my father and my good health. I did not want to spend the next decade worrying about my three girls. Now I can say that through the lens of current medical knowledge, my cancer was sporadic, a fluke. I did not pass on any known genetic mutation that predisposes my daughters to developing breast cancer, like me. I vow to cherish these small wins, whenever I can. And at least for tonight, when I tuck my precious Juliette, Scarlett and Milla into bed, I can breathe a little easier than before.
*PubMed is a free search engine accessing primarily the MEDLINE database of references and abstracts on life sciences and biomedical topics.