An editorial on being a mother of a child with Tay-Sachs

[conuly]

She mentions that it wasn't a huge concern pre-pregnancy because, of course, they're not Jewish.

While it's true that Ashkenazi Jews have a significantly higher rate of Tay-Sachs than the general population (along with Cajuns, who have a similar rate), it's also true that Irish-Americans have an elevated rate of Tay-Sachs.

Among the general population, about 1 in 300 people is a carrier. Among Ashkenazi Jews and Cajuns and French Canadians, the number is about 1 in 30. And among Irish-Americans, the number is 1 in 50.

As it happens, the writer had taken a pre-natal test for Tay-Sachs anyway. But she was told it was unnecessary because, after all - not Jewish!

I'm going out on a limb here, but I'm guessing that with a child named Ronan, she and/or the dad may be Irish-Americans. And guess what? They get it too.

I'm not going to tell people what choices to make. All I can say is that just because you're not Jewish, it doesn't mean that Tay-Sachs can't possibly affect you. (Heck, even if you aren't in one of the OTHER groups that has a higher incidence of Tay-Sachs, you may still be a carrier.)

Comments

[siderea]

Also, can I just say, how can you be sure you're not of Ashkenazi descent? Plenty of people in eastern Europe have already had that surprise.

(In fairness, she says she insisted on getting tested despite other people telling her it wasn't a concern. She had two false negatives, which is horrifying.)

[conuly]

1. Exactly! It's not that many generations ago that people leaving the religion or just generally assimilating weren't likely to talk about it. I can't even name all four grandparents, and we're sketchy about the ethnic background of one of the ones I can name. It would be very easy to have a great or great-great grandparent who turned out to be Jewish (or whatever) and you don't know.

2. Yes, she did. She did everything anybody could possibly expect, and it did her no good at all. But that's another issue.

[dragonwolf]

To be fair, your original post does make it seem like she was the one that wasn't worried about Tay-Sachs (your only line that suggests otherwise was "As it happens, the writer had taken a pre-natal test for Tay-Sachs anyway. But she was told it was unnecessary because, after all - not Jewish!", everything else seemed to have a tone of the doctors being worried and the mother not). Additionally, given Ronan's very much red hair in the article's picture, I think it's safe to assume that Emily knew (or at the very least suspected) that her and/or her partner are of Irish descent, and that that descent carries with it a higher chance of Tay-Sachs, hence why she insisted on getting tested.

She did everything anybody could possibly expect, and it did her no good at all. But that's another issue.

What do you mean by that? I don't know about you, but I'd consider 1 in 50 (assuming here that she/her partner are of Irish descent) to be pretty damn good odds that something will occur when it comes to genetics. If I were in her shoes, I'd have insisted on getting tested, too. As with anything, the sooner you know, the better you can prepare.

Your comment, there, seems to suggest a mindset of "attempts at risk assessment/mitigation/preparation is useless because it doesn't always do you any good." I'd like to think that I know enough about your stance on parenting and risk assessment to know that you don't actually think that, but your words here seem to say otherwise. I hope my interpretation is wrong and would love for you to clarify.

Like the sysadmins and project managers of the world know - it's not if something will happen, it's when. The trick is figuring out what that "something" is most likely to be, and take reasonable measures to reduce its likelihood or, when that's not possible, mitigate its impact in the event that it does happen.

[conuly]

1. I'm sorry I gave that impression, I really didn't mean to. If anything, I think taking two genetic tests for the same condition is normally overkill.

2. I mean that there's no possible way to construe this story as "She wasn't diligent enough". We might argue about what level of diligence is appropriate in any particular situation*, but I think there's no earthly way anybody could go "Well, she should've been more careful, she should've taken another test!" about this.

* I try not to think of these things as a list of THIS is the right way to act in THIS situation, and THAT is wrong, but as... oh, more a general attitude.

So let's say you mostly want to be a very free and open parent, but you're stricter than the norm when it comes to toothbrushing because you had to have a tooth pulled once and it really really hurt, plus it was embarrassing. That doesn't mean you're a strict parent just because your friends think you're crazy on this subject, it means you're an individual and a person and a human being.