Tay Sachs

Dani_Love

I finally got my progenity test results back that I took in August. It says that I am a carrier of tay Sachs disease but I have a two year old and wasn't a carrier when pregnant with her.

Is that something that just shows up? They want to test dh and see if he is a carrier also and if he is I have a 25 percent chance of this one having it. My numbers don't fall under normal or carrier it's in between. I shouldn't have googled it's a horrible disease. Now I'm worried. They gave me the number for a genetics counselor.

jennjilljo

I'm so sorry that you're a carrier. I truly pray that YH isn't a carrier too. You and baby have my T&Ps. I'm so sorry.

KMommytobe

I am pretty sure you are either a carrier or you are not.. Very strange. There must have been some error somewhere. Hoping your DH isn't a carrier!

baileylove22

So sorry you have to go through this.T&Ps your way!

Irishcurls

Something is either wrong with your first test results or your second. You can't become a carrier, it's chromosomal. It is a very devastating disease, but not something to worry about until you know the results from your husband. There are very specific ethnic groups that are typically higher risk for being carriers and chances are good that he is not (Ashkenazi Jews are the largest population, but my German FIL is a carrier). Don't scare yourself until you have all of the information!! 

AngieAn

Oh no, that awful. I am very sorry that you are having to deal with this. I am keeping you in my prayers that everything works out! 

Dani_Love

I'm more inclined to believe that the test made an error. This is the same doctors office that sent a man's test results to my anatomy scan saying I have diabetes and high blood pressures when I don't. I wonder if I can ask to be tested again or get my results from my last pregnancy to see where those numbers fell. I'm trying not to let nerves get to me but once I tell dh he's an extreme worrier :-\

Irishcurls

Dani_Love said:

I'm more inclined to believe that the test made an error. This is the same doctors office that sent a man's test results to my anatomy scan saying I have diabetes and high blood pressures when I don't. I wonder if I can ask to be tested again or get my results from my last pregnancy to see where those numbers fell. I'm trying not to let nerves get to me but once I tell dh he's an extreme worrier :-\

Definitely ask those questions Dani!! It's worth it just to know where you stand (especially before you pay to have your DH tested). I would get the old results and the new results and have either the lab or the doctor go over them--were you with the same practice then? I would imagine if anyone knew you had conflicting results for a genetic disorder they would re-test you to be sure. Try not to worry too much (I know, I know....) Hugs!

junebugjam

One of the tests is wrong. My husband and I had genetic testing done after our loss. He was tested for Tay Sachs specifically because he has Jewish ancestry, and his results came back "inconclusive." He tested again and got the same result, but all it means is that they couldn't tell. I am not a carrier so we weren't concerned enough to test a third time. Is it possible your first results were not negative but rather inconclusive?

I would ask the doctor to review both sets of results to determine where the error is. Hope your husbands tests come back negative.

Jensoprano82

I tested inconclusive as well. (My mom
Is a carrier) fortunately we tested my husband as well and his was negative so we let it drop. Seems like these ambiguous results are pretty common. Good luck!

Dani_Love

That does make me feel better! I'm with a new doctor now within the same practice just a different office if that makes sense but I was with the same doctor I had last time when I took progenity. I've got a call in to the lab to see if I can get results from last time to compare numbers and then when I have that I'll call the genetic counselor. I just can't imagine not telling me that I'm a carrier last time, it's kind of important to know! Thank you all!

jmcgra06

Totally agree with PPs - that doesn't make sense. I would ask the doctor, and I'd probably ask in a pretty bitchy way after TWO tests were inconsistent/wrong. I would be curious to find out how they plan to make sure that kind of error didn't happen again on the strep B and glucose tests.

Dani_Love

I'll be with my new doctor for those thank goodness. I left my previous doctor due to lack of communication and refusal to vbac and I'm so happy I did! It's seems like a sinking ship over there with testing, they even revealed that others guys results to me which I'm pretty sure is a violation of privacy. I mean I'll never meet the guy but now I know all his health issues. So frustrating! I will update when I hear back from the lab, also going to call insurance to see if they cover a retest or dh getting tested.

mommadozer

T&Ps! Definitely get that straightened out at your doctors office. Ask a ton of questions.

flyster

You had the test while you were pregnant? I'm pretty sure I remember reading that it's less accurate once you are pregnant. If you were tested before why would they test again? Like pp have said you either have it or you don't and it's very rare in the US unless you have European Jewish ancestry. Very unlikely you and hubby would have it so don't worry! Even if you did both have it it's still a small chance it would affect baby. Odds are very much on your side.

Dannylion24

Dani_Love said:

I'll be with my new doctor for those thank goodness. I left my previous doctor due to lack of communication and refusal to vbac and I'm so happy I did! It's seems like a sinking ship over there with testing, they even revealed that others guys results to me which I'm pretty sure is a violation of privacy. I mean I'll never meet the guy but now I know all his health issues. So frustrating! I will update when I hear back from the lab, also going to call insurance to see if they cover a retest or dh getting tested.

The radiology lab where I had an ultrasound done during my last preg sent me the results (and an $1800 bill) from some dude recently. They didn't even seem that apologetic or concerned!

Anyways, fingers crossed that there's an error along the way and it's in your favor. Try not to worry too much!

Dani_Love

flyster said:

You had the test while you were pregnant? I'm pretty sure I remember reading that it's less accurate once you are pregnant. If you were tested before why would they test again? Like pp have said you either have it or you don't and it's very rare in the US unless you have European Jewish ancestry. Very unlikely you and hubby would have it so don't worry! Even if you did both have it it's still a small chance it would affect baby. Odds are very much on your side.

Yes at sixteen weeks. The results say 33 to 49 percent is a carrier and 55 is normal. Mine came in at 52. Hopefully I can get some clearer answers tomorrow

AF9211

Thinking of you and hoping for a positive outcome...keep us posted!

CutieBug1

FX it all turns out ok!

Dani_Love

Turned in the paperwork to release the old blood tests, just waiting on them to come through email or I'm going to call back and bug them until they tell me! The lab said I have to go through my old doctor  8-| I'll let you know when I get them! 

Irishcurls

flyster said:

You had the test while you were pregnant? I'm pretty sure I remember reading that it's less accurate once you are pregnant. If you were tested before why would they test again? Like pp have said you either have it or you don't and it's very rare in the US unless you have European Jewish ancestry. Very unlikely you and hubby would have it so don't worry! Even if you did both have it it's still a small chance it would affect baby. Odds are very much on your side.

I get where you're going with this and I agree but just to clear up any possible misinformation: I'll agree that odds are very small both she and her husband are carriers, but with only 4 chromosomes too choose from, the odds are high if they were both carriers (this goes for all genetically inherited traits, its just simple math). 

If they were both carriers (of anything, not Tay Sachs specifically), there's a 25% chance baby inherits it, 50% chance baby is a carrier, 25% chance baby has two unaffected chromosomes. 

flyster

Yup totally correct. I was counting 25% as low chance because baby being a carrier isn't an issue. And the 25% is only if both parents are carriers.

Dani_Love

So the lab said I have to go through my old doctor, so I sent them all the paperwork and they are mailing my old results. So now I'm just waiting.  

The new paperwork says it's a 25% chance if we both have it so chances are low, but I still want to make sure I actually am a carrier before I spend all this extra money for testing.

Irishcurls

flyster said:

Yup totally correct. I was counting 25% as low chance because baby being a carrier isn't an issue. And the 25% is only if both parents are carriers.

Yeah, I wouldn't consider that low. 

Dani_Love

Quick update: After billions of phone calls I just got my records emailed to me today.  I was negative for everything they tested for or in the normal range but I don't see anything that specifically mentions Tay Sachs.  So now I'm trying to see if I was ever tested for it before.  Is that something they test for every pregnancy? I would think so but I'm not sure.

MrsScally13

I'm so sorry you are going through this. Please try not to worry until you get DHs results. I'm a worrier myself so I know that's a really talk order. I would also have them rerun the test. Like many people said you can't become a carrier from one pregnancy to the other as it's genetic. Sending thoughts and prayers you way and calming vibes. Hugs and love.

Irishcurls

Pretty sure they don't test for it unless there is a specific reason to. My DH had to show "proof" of needing the testing, since he's not part of the typical ethnic group at risk. 

jmcgra06

I would schedule a consult/meeting with the doctor and figure out what is going on. He or she should be able to answer your questions about past and current testing. I'm really sorry you're going through this!

Jensoprano82

Irishcurls said:

Pretty sure they don't test for it unless there is a specific reason to. My DH had to show "proof" of needing the testing, since he's not part of the typical ethnic group at risk. 

For sure. It was a battle for me to even get tested and my mom is a carrier. I too was asked for my mom's test results from 1980whatever for insurance to even let me test. (You'd think a lil ol test would cost them a lot less than a Tay Sachs baby but that's another day's topic).

Irishcurls

Jensoprano82 said:

Pretty sure they don't test for it unless there is a specific reason to. My DH had to show "proof" of needing the testing, since he's not part of the typical ethnic group at risk. 

For sure. It was a battle for me to even get tested and my mom is a carrier. I too was asked for my mom's test results from 1980whatever for insurance to even let me test. (You'd think a lil ol test would cost them a lot less than a Tay Sachs baby but that's another day's topic).

Yeah DH needed a letter showing that FIL is a carrier. So strange, especially given how horrible of a disease it is. Dani, you definitely need to have a sit down with someone and get this sorted...sorry this is such a battle!

Dani_Love

Sorry to bump this up but I just wanted to update! After more testing the results came back negative for this little guy. He will not have tay Sachs disease!

Irishcurls

WONDERFUL UPDATE!!!!!!

SaraL1175

Great! I was still a lurker (mobile bumping fail) last month but very worried for you. I've been there.

When I did a preconception check waaay back when TTC #1, our docs (then kaiser) specifically encouraged me to get screened for the "jewish panel" (several genetic disorders more prevalent in Ashkenazi Jewish populations than in the general population). I tested positive as a carrier, and DH was "inconclusive". He had to go back for a second, more sensitive test. We were in agony, wondering whether it was safe to TTC. Thank g-d he came back as negative.

However, we know now that our children will need to be screened for carrier status. There are organizations that will help pay for the screening if insurance does not.

Jensoprano82

Congratulations what a relief!!!

Dannylion24

Very happy to read your news!