Amnio?

Judybruin

A few weeks ago, I found out that I'm a carrier for Gaucher's disease, which is common amongst Ashkenazi Jews (I'm Ashkenazi Jewish).  DH had blood work done to see if he's also a carrier.  We just found out that he's a carrier, for the mild form.  So there's a 1 in 4 risk that our baby has it.  We talked to the genetic counselor about it.  I'm torn about whether to do an amnio, because even if the baby has it, it'll be the mild form.  I have scheduled the amnio for Nov 16, and will be 22 weeks pregnant then.  There's plenty of time for me to cancel it if I change my mind.  What do you guys think?

katiedom

I know nothing about Gaucher's disease - if your child does have it, are there are sort of precautions you need to take, or special things that need to be done at the birth, or special things you have to do after the birth?

If the answer to all of those questions are no, then I would not get the amnio done. I wouldn't take the risk just to find out ahead of time whether my child had the disease or not.

However, if there are precautions that need to be taken or special preparation you would need to do, then I would get the amnio so you could be prepared. The risks of the amnio would be worth it to me in that case. 

Judybruin

There is a 1 in 4 chance that the baby has it.  If the baby has it, it would be type 1, which is the minor type of it.  About half the time, people with type 1 of this disease don't develop symptoms until they are adults, and they are able to lead normal lives.  Some people with it require enzyme replacement therapy.  Common symptoms are enlarged liver or spleen and anemia (reduced red blood count).   I'm having a boy, so anemia in a boy is especially worrysome cuz boys will roughhouse a lot, and he will be more prone to bleeding a lot when he falls.      There won't be any neurological effects though.

TeacherTiff

It sounds like you already know a lot about it. I personally wouldn't do it, I would just research and prepare myself for the "worst case" scenario.

T&P that everything is perfect.

jo&sam

With what little information I have, I guess I would do the amnio if there were precautions to be taken or preperations to make that would need to be in place immediately, like in the delivery room.  If that isn't the case I likely wouldn't do the amnio. 

Good luck with your decision and T&Ps coming your way!

Loveofjoe11

katiedom:

I know nothing about Gaucher's disease - if your child does have it, are there are sort of precautions you need to take, or special things that need to be done at the birth, or special things you have to do after the birth?

If the answer to all of those questions are no, then I would not get the amnio done. I wouldn't take the risk just to find out ahead of time whether my child had the disease or not.

However, if there are precautions that need to be taken or special preparation you would need to do, then I would get the amnio so you could be prepared. The risks of the amnio would be worth it to me in that case. 

I couldn't have said it better myself.  Plus, if it is type 1 and you said it's mild, you can find out after he's born and still have plenty of time to take precautions before adulthood.

Judybruin

We already know a lot of information about it.   During genetic counseling, they also told us a lot about the disease.  She guaranteed us that if the baby has it, it'll be the mild type.  There's a 25% chance the baby has it.  I want to do the amnio to give me the peace of mind that it doesn't have it.  But, if the baby has it, we're still going to keep it.  So from that sense, it doesn't really matter to do the amnio.