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.

[redbird]

It's (among other things) another case of people not understanding probability or relative risk: "your risk is lower" doesn't mean "your risk is zero," even if you have a complete list of the higher-risk groups and are sure you're not in one of them.

[conuly]

That too, but it does make sense to test for things that you're likely to be carrying instead of things you're almost certainly not carrying. These tests cost time and money, and there's a risk to the fetus if you're doing it on them instead of the parents. Presumably if you're bothering with all that, you want the kid, so avoiding risk to them is sensible.

[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.

[ancarett]

But she also says they had the test done, twice, and that both results were negative.

*sadfaces*

Makes me see that my parenting concerns are nowhere near as problematic as hers.

[leora.livejournal.com]

Tay-Sachs is a horrible disease. One of the things I was quite pleased to learn from getting my genes analyzed is that I do not carry it. I also am 99% Ashkenazi Jew and 1% they're not sure as far as what they analyzed, so I knew I was in a higher risk group. Of course, it all only matters if I ever have a child from my genes, but still, I'm glad not to carry it. It's such a horrible disease. I'm sorry for people whose children do have it and for the children as well.

[conuly]

Yes, it does. She was very conscientious. And now she knows both she and her partner obviously are carriers.

However, I'm concerned that her genetic counselor apparently thought that she wasn't at risk simply because she's not Jewish. There are other high-risk groups.

[conuly]

Oh god, it really is.

Though apparently there is an extremely rare variant of it that only hits later in adolescence and doesn't kill you. But really, that doesn't sound like a picnic either.

[silver-chipmunk.livejournal.com]

When i was pregnant I was tested for it even though only one of my grandparents was Jewish (the test was negative, thank God)

[ancarett]

True! It's very strange that a genetic counselor wouldn't bring up the possibility and go through the various genetic backgrounds at play. My husband and I are both of Scandinavian and English descent - there are a number of retinopathies that skew high in the Scandinavian population and our counselor was quick to mention these, even though these are 'relatively minor' issues while also touching on the higher incidences of CF and some heart problems.

[leora.livejournal.com]

I didn't know that. That is interesting. I guess that's better than the usual version. But given how bad the usual version is, that isn't saying much.