So, I’m 20 weeks pregnant. Hooray! Thankfully, everything with my second child is going according to plan. The baby is measuring normally; kidneys, spine and heart look “perfect” (perinatologist’s words, not mine); and the precious fetus has a hairline that calls to mind Ted Cruz. Ah, the magic of 3D ultrasounds.
However, there was a slight snag a few weeks ago. With my first child, I didn’t think twice about bypassing the Ashkenazi Jewish genetic testing panel. This screening tests for carrier status of 11 diseases commonly found in the Jewish population, like Tay-Sachs, Bloom syndrome and Canavan disease. If both parents are carriers, the chances of having an affected child are greatly increased.
No problem, I thought with my first child, blissful in my ignorance. My insurance didn’t cover the tests. My husband isn’t Jewish. I’m only half-Jewish. Nothing to worry about! What are the odds? This time around, my OB-GYN was working with a new lab offering discounted tests. The glossy brochure looked bright and reassuring, neatly tucked into my welcome packet alongside tips for healthy eating. So I absentmindedly agreed to the testing while focusing on more pressing matters, like my ongoing nausea and desire to take Advil, not Tylenol, for headaches. (No luck.)
I’d completely forgotten about the test, in fact, when I got a call from my OB’s office on a ho-hum weekday afternoon. I thought they were reminding me about a routine appointment. But no, it was the nurse, calling to tell me that I was a carrier for something called “Fanconi anemia” (she stumbled slightly over the words) and that I should meet with a genetic counselor prior to my next ultrasound. Oh, and my husband should be tested too.
Full disclosure: I am a Type A person. Type A-Plus-Plus. I obsess over health issues under normal circumstances. Newly pregnant and hormonal, I became a mess. My husband tried to tell me that all was well, that the chances of him being a carrier were teeny-tiny.
“But you’re part Polish!” I wailed. “Poland! Jews! Who knows who slept with whom?”
He tried to reassure me, but I wouldn’t hear it. What did he know? What was he going to tell me—please, mother of my unborn child, freak out?! Here’s a tip: Do not Google Fanconi anemia. It’s bone-chillingly terrifying. Among other things, FA patients are extremely likely to develop bone marrow failure and a variety of cancers at a young age, as well as have malformed organs and other deformities. Right now, the median lifespan is about 33 years old. And here’s the other terrifying thing—it sometimes doesn’t manifest in children until they’re 5 and over. Which meant that my preschooler could have FA, and I wouldn’t even know it. All because I never got tested the first time around.
Oh, and if one does opt to Google “Fanconi anemia” (God, I hate the Internet), all sorts of breast cancer stats pop up. That’s because the prevalent defective FA gene in question for Ashkenazi Jews, FANCC, is in the same family as BRCA, whose gene mutations are also common in the Jewish population and can lead to spikes in breast and ovarian cancer. Now, it is in no way the same gene, and I am not a geneticist, nor am I a doctor (as my husband likes to remind me). But suffice it to say that my highly unscientific, wildly panicked research regarding this mutated FANCC gene led to all sorts of horrible factoids about breast and ovarian cancer. I pored over obscure medical journals. I trolled baby message boards looking for other women with the same gene (nobody replied). I even subscribed to membership for expensive scientific bulletins, all of which turned up nothing but outdated studies about grandmothers in Europe, two out of several hundred of whom had rare gene mutations and breast cancer. Which meant, of course, that I was doomed.
My genetic counseling appointment did little to soften my woes. The counselor was lovely and reassuring, and it turned out that my husband wasn’t, in fact, a FANCC carrier. Relief! But not so fast: At the end of our appointment, she handed me a card for Dana-Farber Cancer Institute and asked if I was aware that FANCC was a “newer-risk breast cancer susceptibility gene.” There wasn’t much research about it, but I could certainly look into it more, if I so chose. But really, nothing much to worry about, especially since nobody in my family had a telling history of early-onset breast cancer or even cancer in general. At least, this is what my husband told me that she said. All I heard was, “CANCER! CANCER! CANCER!”
I spent two weeks in a state of low-grade dread. I envisioned myself dying with two young children. I began palpating my breasts with the fervor of a teenage boy. I felt extremely mortal. Pregnancy renders us so vulnerable anyway, but after that meeting, I felt completely raw and hyper-exposed. I began reading articles about mothers who died young. I longed to go back to my pre-pregnancy self, the self who hadn’t opened a genetic can of worms. I finally booked myself a session with a therapist who specialized in pregnancy, and I spent the majority of the appointment rattling off strange statistics from publications circa 2003. She smiled and suggested I return the following week. I felt somehow marked.
I was mad at myself, too. I wanted to enjoy my pregnancy, but instead I was spending my free time getting an unplanned master’s degree in amateur oncology. I called the lab that screened me. A very patient genetic counselor reassured me that there was nothing “statistically significant” that predisposed me to cancer. I called Dana-Farber. They couldn’t have been nicer. A geneticist even emailed me research papers about FANCC and reassured me, once again, that I was low risk and that most patients (read: people who aren’t anxious messes) usually just stop digging and move on. My husband pleaded with me to stop thinking about it. Easy for him to say: he’s the most even-keeled person on the planet. And he’s not a carrier.
I probed my dad for his family’s medical history. How could I have been so naive? Figures I’d take after his side. Early morning, whenever I passed a mirror without my glasses on, I’d sometimes gasp in slight horror: I looked just like his mother. But people on his side of the family lived into their 80s (even into their 90s) or else got heart disease. He insisted that nobody in his family had breast cancer. Again, easy for him to say! He didn’t have breasts. Maybe he would have died young, had he been born a woman. Yes, this was my thought process. I was picturing my father as a woman. Clearly I needed help.
What was wrong with me? I should have been grateful that we didn’t have to worry about an actual illness like Fanconi anemia. How selfish of me to dwell on these hypotheticals.
But there’s something about parenthood that makes us feel so powerless, so easily vanquished, so much at the whim of fate’s quicksand. So much can go wrong. All of the ultrasounds. All of those tests. All of the doctor’s appointments. Each one is an opportunity for reassurance—or for life to change in a sharp instant. Really, my anxiety spiral had less to do with my genetics and more to do with my mind. I wanted to feel safe again. And the older we get, especially as we become parents, we realize that life sometimes just plain isn’t safe. I watched my son at his T-ball game a few days later so blissfully unaware that life can sometimes be scary, and I wanted to freeze that moment forever. Life will never be so easy for him as it is right now. Would I be there in a year for his next T-ball game? In a decade, when he starts high school? Who knows? None of us know. My eyes welled with tears. I only had this moment, and I needed to start enjoying it.
So! At this point, you might wonder whether I’m still curled in the fetal position, googling National Institutes of Health grants from 1988. I’m happy to say that I did move on. I finally sucked up my pride and emailed the father of a good friend, someone who just happens to be a prominent cancer specialist. I felt kind of silly bothering him about my paranoia, but it was the smartest thing I could have ever done. As it turned out, he knew all about the gene. He emailed me back within the hour to tell me, in so many words, that I had nothing to worry about.
And so I stopped worrying because I trusted him. And I feel grateful. Of course I feel grateful. The thought of having a child born with Fanconi anemia, or any genetic disease, seems unthinkable. But I feel wrung out too, like I just ran a marathon for no reason. What if the results were positive? Would I even want to know? Would it have changed things? The point at which they test is early enough to terminate should something be wrong. Would I have done that? How powerful is knowledge, and how paralyzing?
So much about parenthood is unknowable. Until recently, our genetic destinies were too. No more. But even when we’re given this sense of control, this high-tech sense of engineered destiny, we’re still powerless, to some degree. The truth doesn’t change, even if our knowledge does. I’d be a Fanconi anemia carrier and all that might entail, whether I knew it or not. The only choice, really, was to let go and move on.
It’s a good lesson for parenthood too.
By the way, if you’re curious about Fanconi anemia, my friend Allen Goldberg and his wife, Laurie, do amazing work around this and other childhood diseases with Hope for Henry, a Washington, D.C.-based organization that plans in-hospital gifts, parties and events to give hope and cheer to seriously ill kids. Their son, Henry, died of Fanconi anemia at 7 years old.
I’d love to hear from other people about their genetic testing experiences. It feels prickly writing something so raw and personal, even though I do it all the time. I’m almost embarrassed that I was so scared. But I’m human (genetic testing proves it!), and it feels good to finally put this behind me. If I can help reassure someone else, all the better.