They Never Screened for Tay-Sachs Until They Met Me – Kveller
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Jewish genetic diseases

They Never Screened for Tay-Sachs Until They Met Me


“Even though your husband isn’t Jewish, let’s screen you for Tay-Sachs,” my Amazonian midwife told me at my 8-week maternity visit. She, like me, and despite the nearly two-foot difference in our heights, is of Ashkenazi extraction. It made sense–why not err on the side of caution?

I wasn’t able to get a 12-week appointment with my midwife that lived with my work schedule, so I saw an obstetrician at the same practice.

“Tay-Sachs?” he muttered back to me as I tried not to fall asleep on the table. “Do we do that?”

Oh, the joys of being Jewish in small town Maine.

“You might be the first Tay-Sachs draw we’ve ever done!” he exclaimed. “I don’t even know how to add it to your lab order!”

He called reception. Reception called the lab. The lab called the obstetrician, to no avail.

“Maybe I can make it up somehow,” he asserted, still fiddling at the wall-mounted computer with his back to me. “Miscellaneous test–ethnic group designation, there we go.”

Miscellaneous ethnic group designation–not Protestant, not Catholic, slightly less white bread and Jello-mold salad than the neighbors. Identifiably not the norm, but not identifiable. That sums up the rural Maine Jewish experience pretty darn well.

Satisfied with his computing skills, the obstetrician finally turned his attention to the body and its alien inhabitant on his table. We heard the whoosh-whoosh-whoosh of the baby’s heartbeat, clocking in at a perfect 150 bpm. My husband leaned in to record it on his iPhone.

I should mention that getting blood drawn is the longest lasting, most debilitating anxiety I currently live with. I got over my fear of alien abduction, and can now drive the car onto the ferry without panicking. Ordinarily, I pop a Xanax and blissfully, drunkenly float through any invasive procedures. Fetuses, however, don’t seem to take well to sedatives.

I attempted to compensate for my lack of sedation by slathering my antecubitis (that’s elbow-pit to you) with topical anesthetic and swaddling it in plastic wrap. Numb though my arm was, it wasn’t doing a thing for my mounting panic.

“You’re really flushed,” my husband noticed as we picked the lab order up at reception.

“I am on the verge of a panic attack,” I muttered back.

“You’ll be fine,” he said. “They’re professionals.”

The spiky-haired and frazzled receptionist offered to check me in at her desk in the middle of the lobby. “There’s only one of us here right now,” she said, “…unless you’d rather wait. A long, long time.

“No no,” I gasped. “Here’s fine.” HIPAA be damned.

I staggered, half-dragged by my husband, to the lab. I could hear my blood buzzing in my ears. It was Halloween, and some of the phlebotomists were disconcertingly festooned with witch hats and striped tights. A young boy in a stroller chatted calmly with his mother. “Is it numb yet?” she asked, pressing on his arm. Was mine? Or was I in for a world of pain? I unwrapped my arm and pressed. Maybe?

“Do you get many trick-or-treaters?” an elderly woman in a wheelchair asked.

“Not too many in our neck of the woods,” my husband responded. I nodded, at a loss for words. When would I get called in?

“Courtney?” A chic blonde woman in a lab coat called to me. I mutely handed her my lab order and sat in the chair, brandishing my right arm and holding out my left hand for my husband to hold. She pressed on my arm as I had a few minutes before. “You have great veins!”

I gaped. In 32 years (or at least as many of them as I remember) nobody had ever said that to me before.

“OK, deep breath in and a little stick,” she said. I winced. I squeezed my husband’s hand. I felt–nothing!

“You’re good!” I exclaimed. In the interest of full disclosure, I confessed, “and the topical anesthetic worked.”

“Two for two then,” she said, quickly replacing vials of blood as they filled. Hepatitis C. HIV. Alpha fetal protein series one. Syphilis.

“Tay-Sachs!” I said.

“What’s that, honey?”

‘Tay-Sachs. Did it make it onto my order?” She frowned and double-checked.

“Hm…nope! I don’t see it. I know your doctor called to see how to add it, but he didn’t do it right.”

“Can you do it? Please? Since I’m here, and already stuck…”

“We’ve never done one before, I don’t think.” She called to the other phlebotomist. “Tay-Sachs? Which vial do we use for that one?”

The two women bustled around the lab, flipping through clipboards and pawing through shelves of color-coded vials until they reached a consensus and, just in time, slipped the vial onto the needle.

I didn’t get the results of my battery of tests until my 16-week appointment, thankfully with my midwife.

“Everything looks good,” she said. “No hep C, no HIV, no syphilis. Actually, I’ve never seen anyone test positive for syphilis.”

“What about Tay-Sachs?”

“Oh–I didn’t see it in there. Did you have it done?”

I can only imagine the look I gave her. I think my eyebrows left my forehead, like a surprised comic strip character. She checked again.

“Here it is! Under your breast ultrasound from this summer. Huh. Anyway, you don’t have any of the alleles, so that’s good news!”

Maybe I’m not a scientific pioneer, and I’ll probably never get to live out my childhood dream of colonizing Mars. But I like to think that I’ve paved the way for the next Jewish woman to walk into my small town hospital and get screened for Tay-Sachs without fuss.

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