Wait, There’s More to Worry About Than Tay-Sachs?!

By mathewschwartz — August 31, 2016

2 min read

The first time I ever gave any kind of real thought to the possibility of genetic landmines in my Jewish ancestry, I was in my mid-20s, not dating anyone too seriously — Jewish or otherwise — and, to be honest, as blithely unconcerned about the odds as your average 20-something probably is about such things. I had never heard of anyone in my family having Tay Sachs, and that was really the only genetic disease common to Members of the Tribe that I knew of. My upbringing had taught me about that one, and sickle cell — the latter not being a big concern for us. Any other possible issues were going to be the kind of random troubles that could strike anyone — not predictable, and not worth fretting over.

But a group of us were at the Philadelphia’s Israeli Independence Day festival, and there was a booth with a big sign that read something like: Free Genetic Screenings.  

What’s a little blood? I stepped up, along with a few friends, filled out the form, briefly read the names of the several non-Tay Sachs things they would check for too, gave them a quick vial of A-positive, and went back to enjoying the day.

Some weeks later, comes the letter. I open it.

No Tay Sachs. Good. But something else interesting. I’m a carrier for one of those other diseases I’d never heard of before, one with a lower prevalence. I check the odds. Pretty low. Seems like I’m probably safe. I toss the letter into a desk drawer, and forget it.

Fast-forward a few years. Early 30s. Married to a Jewish woman. No longer blithely unconcerned about my potential offspring. (Kinda looking forward to meeting them, in fact.) As we are discovering conception to be a bit tougher than the high school sex ed classes warned us, we check in with, among other professionals, a genetic counselor. Nice fellow. Lots of details are discussed, clearly and simply.

And then, among the things that get added to our to-do list is getting our Jewish disease genetic workups done. Because yes we want kids. Healthy ones. If there’s a risk on that score, we definitely want to know going in. No question it would have an impact on our decisions.

As it turns out, those tests are not as affordable when you don’t find an organization giving them away for free. Well, I say, we can skip mine … I think … Because I know I don’t have Tay Sachs. But … there was something else, wasn’t there? Where did I put that letter? Answer: After a rigorous search of my old papers, I have absolutely no clue.

Thankfully the organizations that do this testing keep far better records than I do. A phone call or two later from my industrious bride, and the National Tay-Sachs & Allied Diseases Association of Delaware Valley mails us a copy of my workup.

There you are, little genetic aberration: Canavan disease. Sounds more Irish than Jewish.

The next step is to wait for my wife’s newly taken test results to come back. And we’re still mostly unconcerned.

Then they arrive. All clear *except* for an ambiguous result for Canavan. Might be positive. Might not. How is that even in option in genetic testing? Aren’t these pass/fail? Not always. They need to run another test.

A little more blood. A several-week wait that feels quite long.

And then the verdict. All clear. She is not, in fact, a carrier for anything.

Ten years later, our two daughters are healthy, happy and as normal as they can be, considering their parentage. Someday, in another decade or two, we’ll tell them to get tested though, in case they’re carriers. But they’ll know more than I did before the blood tests come back.