I don't want to hear there is something wrong

amother

Thu, Apr 01 2010, 6:47 pm

I was always a proponent of dor yeshorim/genetic testing. Well now the joke seems to be on me. Before we got marred my husband, who is a carrier for CF, and I did dor yeshorim and were told we were compatible. I took tests for CF and all the genetic tests offered by the OB and was told that all were negative. We got a letter from the hospital saying my baby had tested positive for CF in the screening. Our dr. told us not to worry as that was b/c DH is a carrier. We went to get the sweat test and today learned it was borderline abnormal. Now we have to take the baby for genetic testing/ another sweat test possibly to a pulinologist. Has a/o ever been through this and it all came out okay?
Please provide support.

Liba

Thu, Apr 01 2010, 6:56 pm

Yes.

We had a very similar situation.

We learned that Dor Yesharim only tested for 4 of the most common CF mutations when I got tested 14 years ago. There are more than a thousand CF mutations.

In the end, despite the boarderline sweat test it wasn't CF. We had her blood sent off to Ambry Genetics for complete mapping of the CF dna.

I hope that you get good answers. If you could to give us a name to daven for, or at least PM me a name I would like to daven for your little one.

amother

Thu, Apr 01 2010, 9:22 pm

OP here Thank you. we are hoping and praying. The waiting is one of the worst parts. We keep expecting her to be cleared but it seems to keep going further and further.

Mimisinger

Thu, Apr 01 2010, 9:35 pm

I hope all goes well. A friend of mine had a month long of tests and scares, etc. And B"H her daughter has no issues. IY"H it should be the same by you.

amother

Fri, Apr 02 2010, 3:44 am

only good news!!

(this is scary. are the genetic tests done through a dr. any more reliable than dor yesharim? I am a concerned mother of teens soon to be "in the parsha".)

Liba

Fri, Apr 02 2010, 7:48 am

Dor yesharim does a good service, but they only test for the most likely mutations. Last I heard they were testing for 32 out of over a thousand known CF mutations. If it is a real worry (as in one of the pair is a known carrier or has CF) then I would not rely on dor yesharim for their testing. Ambry Genetics does complete CF mapping.

CF is far from the only thing that Dor Yesharim tests for though and they do it in a way that protects people's privacy when they are carriers, which can be very important.

amother

Fri, Apr 02 2010, 5:03 pm

Op here. In response to anon mom of teens, the initial testing for dy and at the dr is the same as far as I know, however DY is quick and confidential. On a side note, I would recomend that you check dor yeshorim (or whatever genetic testing) before the kids even go out. there is no reason to waste time if it wont work out.

Thanks for the support e/o especially Liba- your experience has been very comforting to us. It does seem like it will take at least another 3 weeks to clear this up. The genetic testing wont come back until 3 weeks from when we do it. Then there is another sweat test to take.

amother

Fri, Apr 02 2010, 5:05 pm

New question: Has any imamother ever gotten a letter from the hospital saying that their baby failed any screening for genetic diseases which they know they or their husband is a carrier for and DY said that they are compatible?

sandyhp1

Mon, Apr 12 2010, 11:35 pm

DY doesn't test for every possible genetic problem that exists. They can't. My DD and SIL were compatible and my DD ended up being a carrier of a very rare genetic disorder. My grandson was diagnosed at 7 months old, after he was failure to thrive. No one could have foreseen this. Genetic testing confirmed the dagnosis and that DD was a carrier and I do not blame DY. HaShem gave them a challenge and they have had to learn how to manage it. With Siyata Dishmaya, they have grown stronger and have two beautiful sons, with the same genetic condition, who will, with HaShem's help, grow up to be wonderful young men who happen to have this condition.

happyone

Tue, Apr 13 2010, 7:00 am

Dor Yesharim does a great job at the most common mutation, which 1 in 30 are carriers of. The rarer mutations, which are over 1000 at this point are not screened when you do testing at a regular geneticist either. Hopefully it's a lab error, which has happened in the past. The good news is that if Chas v'shalom it does prove positive, it's 2010 and there are many treatments and medical interventions that wasn't available 20 years ago. Children with CF have a longer life span, better quality of life today more than ever before. In addition, some mutations are really really mild, and the child can be asymptomatic or only be affected mildly. You should take your results to a CF center rather than a general pulmonologist for a proper diagnosis or to rule it out completely.
I'm sorry you are going through this. If you want to talk to others in this situation, you can PM to me and I can give you phone numbers of ppl willing to talk to you.

Hatzlacha.