Inheritant Carrier Genetic Screening Results..?

[tattlebaby]

While having my bloods checked for rising HCG Levels over the past few wks, my doc also discovered that I carry only one very rare gene for something called Sulfate Transporter-related Osteochondrodysplasias. I have never even heard of such a thing! According to what she said in order for there to be concern there would need to be two genes to maybe transport it to the baby. The crazy thing is...I am perfectly healthy according to all my recent dr. visits & i feel great too, I have never even been told I had this...so you can imagine my jaw drop & state of confusion . Now she wants DH to also get blood work done to check if he might also be a carrier for this . WTH?!!!...what are the chances really!!! we've been on such a high from our recent that to suddenly hear something like this comes as a total shock, what a way to burst your bubble. Sorry..just don't know who to talk to about this right now and i need to vent i guess. But yeah..have any of you had similar tests done????...what were your results????..i desperately need to hear of positive stories that came from something like this.

 

[tattlebaby]

BTW.. i want to point out that for those of you that are unfamiliar with the medical term Sulfate Transporter-related Osteochondrodysplasias..(STROs) are a group of inherited diseases characterized by short stature and short limbs, spine and joint abnormalities, and early-onset osteoarthritis. Very weird when no one in my family or DH's family suffer from any of the above. We're all of average stature, and have 0 abnormalities.

For more info:
https://www.labcorp.com/wps/wcm/con...te Transporter-Related Osteochondrodysplasias

 

[xSweetTartx]

While I have no input on the subject, I didn't want to read and run. You need a hug.

Take a deep breath and try to relax. In my opinion, if it's a very rare gene, the likelihood that your husband also carries it is extremely slim.

You'll find that through all of the testing in pregnancy, they throw a lot at you that can be baffling but it's all a part of learning more about your baby. I know it must be scary but don't let a tiny possibility steal your baby joy. Now is a time to celebrate.

Your little one will be just fine.

 

[Sunnie1984]

Hugs!

I know it might not seem it, but loads of people are carriers for genetic abnormalities.

In order for you, or any member of your family to actually have a genetic disorder, both parents have to have the genetic code.

So if your grand mother is a carrier, but her husband is not, all of her children are likely to carry the one genetic code that she has, but will not develop a genetic disorder as her husband is not a carrier.

So it will get passed further and further down the line, totally harmless, unless one of your family happens to meet and conceive a child with someone else who is also a carrier for the same genetic disorder.

So try not to worry, the chances that you are both carrying the same gene for that disorder is pretty unlikely, your doctor is just playing it safe.

Hope that helps.

x

 

[chulie]

I know that can be so scary. My mother carries something very rare and causes babies to be born without a part of the lung functioning. The crazy thing is. It's only a concern if the partner carries this also. My mom had 2 healthy children. My sister and I...it's so rare it's never tested for. Well. Third child came along and had this rare disease and that's when they realized my dad must also be a rare carrier. So my sister passed away from this. My parents went on to have a 3rd totally healthy child. It's was just a completely rare, one in a billion chance my sister caught this and passed away. It's scary for sure....but try not to worry. I didn't even bother getting myself tested for this because its that rare and I just don't want to add the stress of thinking my baby "might" in a one in a billion chance have this and since my dh is European...I'm gonna assume he doesn't have it. Like I said. 3 of her 4 kids didn't so its such a one in a billion chance. I'm so sorry your stressed. All will be ok!!

 

[tryn4]

I agree with pp's, try to relax, everything will be ok!

My husband carries sickle cell trait but since I don't carry it, our baby wont have sickle cell disease. It's just one of those things. BIG

 

[steph.]

I know how scary it can be when something so unexpected comes up, I've had my own awful scare this pregnancy. The chances of your partner having this gene is very small. And even if he does, it doesnt necessarily mean your baby will have the condition.

I am sure your doctor explained it all to you, how its a recessive gene (lets call the gene 'r') and to be affected by the disorder you need two recessive genes(rr) . You have one recessive and one dominant (Rr), if you partner is affected he will also have one recessive and one dominant (Rr). Your baby will inherit one gene from you and one from your partner so s/he could end up with RR, Rr,Rr, or rr. So even if in the unlikely situation that your partner is also a carrier, there is only a 25% chance your baby will be affected.

Try not to worry too much, the chance of your baby having the condition is very small xxx

 

[tattlebaby]

thank you to you all..good thoughts.

 

[RunningMomOf3]

any chance your dr office can refer you to a gentic councelor?? They are wonderful to talk to and have all the answers to the questions you have, or at least can ease your mind during this time... I've put off genetic testing just because... what if something were to show... and all the worry is for nothing. We are healthy and nothing unusal has occured in either of our family lines?? Good luck.. I wish I could be more helpful..

 

[tryn4]

Great attitude tattle. Your baby will be fine & loved!

 

[JessPape]

I carry two Cystic Fibrosis genes, So I feel you. I never knew until we got pregnant with my daughter, I knew I could possibly be a carrier (as I have two cousins with the diseases). My husband isn't so, we have no risk of our child having it. None the less its a great thing to know, because there is a possibility you could pass the gene on to your children, so its something you can now educate them about.


Also, having a Gene, does NOT make you ill in any way. Having a CF gene, does not mean I have CF.


As for your DH having it the odds are probably pretty rare that he is a carrier, however, its nice to know. Even if he is a carrier it does NOT mean that your child will get it. If my husband was a CF carrier there would only be a 25% chance that our kids would be born with CF, and a 50% chance that they MAY get the gene from us.

 

[tattlebaby]

any chance your dr office can refer you to a gentic councelor?? They are wonderful to talk to and have all the answers to the questions you have, or at least can ease your mind during this time... I've put off genetic testing just because... what if something were to show... and all the worry is for nothing. We are healthy and nothing unusal has occured in either of our family lines?? Good luck.. I wish I could be more helpful..

You're right. And yes, we're actually scheduled to meet with a Genetic Counselor to better interpret and understand our test results. Something we both desperately need at this time. Thank you.

 

[tattlebaby]

I carry two Cystic Fibrosis genes, So I feel you. I never knew until we got pregnant with my daughter, I knew I could possibly be a carrier (as I have two cousins with the diseases). My husband isn't so, we have no risk of our child having it. None the less its a great thing to know, because there is a possibility you could pass the gene on to your children, so its something you can now educate them about.


Also, having a Gene, does NOT make you ill in any way. Having a CF gene, does not mean I have CF.


As for your DH having it the odds are probably pretty rare that he is a carrier, however, its nice to know. Even if he is a carrier it does NOT mean that your child will get it. If my husband was a CF carrier there would only be a 25% chance that our kids would be born with CF, and a 50% chance that they MAY get the gene from us.

Thank you for sharing your story and insight on all of this. Its amazing how many lucky stories I keep reading about, in regards to parter2 not being a carrier for the same specific disorder as partner1. I love that you mentioned "educating your child" about these things. That's exactly key i feel, to not just those parents who have to deal with this..but to all parents in general. If this were the case..our world would know no evil/prejudice or negative views on the many differences amongst us as a human race. Crazy because I always said I would teach my children about diversity but this just takes it to another level.