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My husband and I are both completely Jewish, so we had genetic testing done too. He came up with a few things, but we had no matches.

With that said, 30 babies a year means you have a super super tiny chance of having it affect you. Have your husband tested for peace of mind!

I am Jewish, my husband is not. When I was pregnant with my son, I got the panel of tests and was positive as a carrier for Gaucher syndrome. So, my husband got tested and luckily he was not a carrier. We waited for his test results during the same week that we waited for the Harmony results. I was really worried even though the odds of there being an issue were very low.

I suggest that you get your husband tested because the odds are very low that it will be an issue, and most likely the test will ultimately give you peace of mind. And anyway, knowledge is power.

I'm sorry you had a positive result for your test.

Not the same at all but LO had some genetic testing done shortly after birth and the geneticist was seriously the absolute best doctor I have ever met. She explained everything so well and was just so kind. I hope you meet someone equally wonderful who can give you all the information you need. I would definitely do what you can for peace of mind.

I went to school with the Frohnmayer family - they had several children with Faniconi anemia, and they founded the support and research foundation for people afflicted by it. It is a terrible disease, certainly - but it is very, very rare. The chance that your husband is also a carrier is very low, so try to relax a bit. In all likelihood you are fine.

I am a carrier for a bunch of random stuff, including tay sachs. Some of the things I found out about before I was pregnant, but some stuff I only found out after I was pregnant, and like you, I was freaking out until my DH got tested. Luckily he is a carrier for none of that stuff. The odds of your DH being a carrier as well, especially considering he's not Jewish, are so so so tiny--so I am sure that all will be well! But it is scary for sure. I believe his tests took about 6 days to come back .

I don't think there's any reason to freak out quite yet. Have DH tested for peace of mind and maybe even DS. That's all you can do at this point. The likelihood is DH isn't a carrier and DS is perfectly healthy.

My husbands family has experience with fanconi anemia. Our niece passed away at 6 from the disease and neither family is Jewish. It's was also the only case in either side of the family that we're aware of. Like @thepicklemonster said, both parents have to be carriers and then there is a 1/4 chance of passing it along. It's extremely rare, so, please try not to freak out! I see your husband is getting tested. Hopefully, it will put your mind at ease so you can stop worrying!

Great news!