Anonymous wrote:

Anonymous wrote:

Anonymous wrote:I think you should definitely to the Counsyl test, before TTC. I did it and found out I'm a carrier for an incredibly rare, but very serious disease (frequently fatal to the child and a very high maternal death rate) . Once I got this test result, my OB suggested my husband also be tested. Turns out he's also a carrier. That means any child of ours has a 25% of being born with the disease (not just a carrier). No one in our families has had this, as far as we know. We'd never heard of it and had no reason to suspect. I would have had no idea this was a possibility without this knowledge. And now we are armed with the information so that we can make decisions--and have plenty of time to make them and not be surprised at the last minute. There are genetic tests in utero that can detect the illness and we can make the decision to abort. Or we can go forward with the pregnancy but my doctors are armed with information that can help keep me alive while I try to carry full-term and help treat and care for the baby should it survive. Or we can think about going through IVF with PGS to create an embryo free of this disease. Why on earth wouldn't you want to have that information? It's a spit test. Most people probably don't get the news we did, but you never who whether it will be you.

In addition to the other things people have mentioned, you really should also do some investigating into all medicines you currently take and all products you are using. For example, it might surprise you to learn that the allergy pill or over-the-counter headache medicine or face cream you are using is something you should stop taking now, while you TTC. This forum has a lot of good info--run searches and read past posts.

Agree with this. Plus if you belong to any high-risk groups you should get tested. Yes, you can wait until you're pregnant, but isn't it better to know ahead of time than be blindsided? My family are Ashkenazi Jews, who are often carriers for very serious diseases, including Tay-Sachs. In fact two of my cousins had Tay-Sachs and died of it, years before I was born. So I was adamant about getting tested. Turns out I am indeed a carrier for Tay-Sachs, but not for anything else. So we had DH tested and he is not, thank G-d. But if he had been, there's a strong chance we would have done IVF. At a minimum we would have had the fetus tested once I was pregnant.

I am the pp who brought up counsyl. Interestingly one of my positives was familial dysautonomia which apparently is another common Ashkenazi Jewish trait. I had no idea I had Jewish ancestry muchless Ashkenazi... So you never know what will come back.

Anonymous wrote:

Anonymous wrote:I think you should definitely to the Counsyl test, before TTC. I did it and found out I'm a carrier for an incredibly rare, but very serious disease (frequently fatal to the child and a very high maternal death rate) . Once I got this test result, my OB suggested my husband also be tested. Turns out he's also a carrier. That means any child of ours has a 25% of being born with the disease (not just a carrier). No one in our families has had this, as far as we know. We'd never heard of it and had no reason to suspect. I would have had no idea this was a possibility without this knowledge. And now we are armed with the information so that we can make decisions--and have plenty of time to make them and not be surprised at the last minute. There are genetic tests in utero that can detect the illness and we can make the decision to abort. Or we can go forward with the pregnancy but my doctors are armed with information that can help keep me alive while I try to carry full-term and help treat and care for the baby should it survive. Or we can think about going through IVF with PGS to create an embryo free of this disease. Why on earth wouldn't you want to have that information? It's a spit test. Most people probably don't get the news we did, but you never who whether it will be you.

In addition to the other things people have mentioned, you really should also do some investigating into all medicines you currently take and all products you are using. For example, it might surprise you to learn that the allergy pill or over-the-counter headache medicine or face cream you are using is something you should stop taking now, while you TTC. This forum has a lot of good info--run searches and read past posts.

Agree with this. Plus if you belong to any high-risk groups you should get tested. Yes, you can wait until you're pregnant, but isn't it better to know ahead of time than be blindsided? My family are Ashkenazi Jews, who are often carriers for very serious diseases, including Tay-Sachs. In fact two of my cousins had Tay-Sachs and died of it, years before I was born. So I was adamant about getting tested. Turns out I am indeed a carrier for Tay-Sachs, but not for anything else. So we had DH tested and he is not, thank G-d. But if he had been, there's a strong chance we would have done IVF. At a minimum we would have had the fetus tested once I was pregnant.

Anonymous wrote:I think you should definitely to the Counsyl test, before TTC. I did it and found out I'm a carrier for an incredibly rare, but very serious disease (frequently fatal to the child and a very high maternal death rate) . Once I got this test result, my OB suggested my husband also be tested. Turns out he's also a carrier. That means any child of ours has a 25% of being born with the disease (not just a carrier). No one in our families has had this, as far as we know. We'd never heard of it and had no reason to suspect. I would have had no idea this was a possibility without this knowledge. And now we are armed with the information so that we can make decisions--and have plenty of time to make them and not be surprised at the last minute. There are genetic tests in utero that can detect the illness and we can make the decision to abort. Or we can go forward with the pregnancy but my doctors are armed with information that can help keep me alive while I try to carry full-term and help treat and care for the baby should it survive. Or we can think about going through IVF with PGS to create an embryo free of this disease. Why on earth wouldn't you want to have that information? It's a spit test. Most people probably don't get the news we did, but you never who whether it will be you.

In addition to the other things people have mentioned, you really should also do some investigating into all medicines you currently take and all products you are using. For example, it might surprise you to learn that the allergy pill or over-the-counter headache medicine or face cream you are using is something you should stop taking now, while you TTC. This forum has a lot of good info--run searches and read past posts.

Anonymous wrote:

Anonymous wrote:You have gotten some good advice...the only thing I have to add is if you want genetic testing done for cystic fibrosis or any other specific disease, DONT just draw blood for cystic fibrosis by itself. Counsyl is MUCH cheaper and tests for 100 other genetically inherited diseases as well. This was an expensive mistake for me. Cystic fibrosis test alone cost me $400 AFTER arguing with the company while counsyl ended up being a $25 lab copay.

Thanks - I will look into Counsyl. Is this kind of testing pretty typical? I've seen it recommended for older or high-risk moms, but I wasn't sure if younger first-time moms were having it done as well. Do you think it's recommended for a 31-32 year old first time mother, or could it just do more harm than good by making us worry unnecessarily?

Anonymous wrote:

Anonymous wrote:You have gotten some good advice...the only thing I have to add is if you want genetic testing done for cystic fibrosis or any other specific disease, DONT just draw blood for cystic fibrosis by itself. Counsyl is MUCH cheaper and tests for 100 other genetically inherited diseases as well. This was an expensive mistake for me. Cystic fibrosis test alone cost me $400 AFTER arguing with the company while counsyl ended up being a $25 lab copay.

Thanks - I will look into Counsyl. Is this kind of testing pretty typical? I've seen it recommended for older or high-risk moms, but I wasn't sure if younger first-time moms were having it done as well. Do you think it's recommended for a 31-32 year old first time mother, or could it just do more harm than good by making us worry unnecessarily?