Asking the Right Questions

We spend a lot of time talking about Ashkenazi (Eastern European) Jewish Genetic Diseases and testing. But a friend recently asked me, how do we know who is Ashkenazi and who isn’t? The simple answer is, we ask! Every single patient! Most of my patients think it’s a very strange question, and some do question why I’m asking about Jewish ancestry. I explain that there are certain conditions which are more common in different populations, and depending on your specific ethnic background, I may offer additional testing.

A story to illustrate:

A number of years ago I met with a Jamaican woman during her pregnancy. She was coming in for a very routine appointment, for us to review all of her prenatal genetic testing options.

As I was taking her family history, she explained that her husband was Irish, so her older son looks more like her husband, with pale white skin, freckles, and light curly hair, and unfortunately did not appear to be black, even though she is. She also said that often when she takes her son to the park, women think she is his babysitter and not his mother.

When I asked if she has Jewish ancestry, she replied, “Funny you should ask that. My grandfather was Jewish, from Poland!” She then went on to explain that although she does not identify as Jewish, she lives in community where there are a lot of Jewish families, and she sends her son to the local Jewish preschool, since it is one of the better local schools. When she takes her son to the park and he’s running around and playing, he’ll call out to her, saying “Ema! Ema!” (Hebrew for “Mommy! Mommy!”), since that’s what he learns in school. All the other Jewish women in the playground look around wondering who this child belongs to, as she calls out to him “Ema, I mean, Mommy is right here!”

I spoke with her about Ashkenazi Jewish carrier screening, and specifically carrier screening for Tay Sachs disease, as Tay Sachs disease is common in both the Ashkenazi Jewish and Irish populations.

As her appointment came to a close I walked her out of my office and gave her my card. “How do you pronounce your name again?” I explained that the “Ch-“ sound is sometimes difficult to say, but ‘Chani’ roughly translates to ‘Grace’. “Oh, that’s a beautiful name! You know, if this is a girl…” she said, as she pointed to her belly. “No, that’s probably not a good idea.” I said. “If you think it’s frustrating now with your son running around calling you ‘Ema’, it’s going to be much worse if you name your daughter “Chani”.

For better or for worse, regardless of how you identify religiously, if you have Jewish ancestry, you could still be a carrier of a Jewish Genetic Disease.  Even having only one Jewish grandparent will cause me to offer you Jewish carrier screening. So especially for those who may never meet with a genetic counselor and are not “identifiable” as Jewish, be sure to mention it to your doctor and ask about Jewish genetic carrier screening!

For a list of conditions we currently screen for, click here.

To be screened through our program visit our genetic testing website.

To find a genetic counselor visit:

Posted on June 5, 2013, in Chani's posts and tagged , , , . Bookmark the permalink. 3 Comments.

  1. how about Hannah?

  2. Dr.Alan Hecht M.S.W.,L.C.S.W.,Ph.D

    All OBS doctors should be aware,and speak to their patients.

  1. Pingback: Forty Years | The Gene Scene

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