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Ok-Explanation-123410 karma

I'm a carrier of ZSD. What OP said as far as the odds go, they are pretty terrible and it only matters if the other person has it too. It's a rare, recessive gene. The grandma who I'm 99% sure gave it to me lived to be 101. I'm also very healthy, so her genes weirdly gave me that at the same time.

If you get the 250+ disease "carrier screening", you'd probably find that you are the carrier of something. Pretty much everyone has 1-2 things. Also, once you are known to be the carrier of something, doctors will low-key pester you to get your partner tested until he has the screening too, despite him being uncomfortable with the idea and not known to be of the ethnicity where the mutation is the most common.

Honestly, at the rate humanity is going, it's more likely my descendants will suffer a horrible fate due to global warming or the collapse of society than hey have a kid with this particular disease. And if they don't move to the middle-of-nowhere Québec, the odds will be pretty good they won't ever find a partner with it.

Ok-Explanation-12345 karma

I'm a carrier for ZSD so I googled it a bunch when I first found out (and have since forgotten a bunch). Without looking it up again, someone with the syndrome's body can't do a vital process that is handled by the mother's body in utero. So everything is fine until the baby comes out and has to exist independently.

If you pay for carrier screening (the 250 gene kind) for at least one of you and your spouse, this would show up. It's about $400 out of pocket. The odds are that you each would be a carrier of something or several somethings, but not the same thing.

Ok-Explanation-12343 karma

I'm also a carrier for Zellweger Spectrum Disorders. I'm curious, which mutation do you have? (I have Pex 6, which I'm 99% sure came from my French-Canadian grandmother).