Also pregnant with questions

A

amberglp

Guest
I just found out yesterday that I am a carrier for CF after my 16 week test. My husband went in today to get tested to see if he too is a carrier. I know nothing about the disease. I have some of the symptoms of CF but nothing so serious to have ever suspected a serious illness. Do you have to have a CF test to see if you actually have CF or when they did the genetic testing, and they saw I was a carrier this ruled out actually having CF? I am confused.
 
A

amberglp

Guest
I just found out yesterday that I am a carrier for CF after my 16 week test. My husband went in today to get tested to see if he too is a carrier. I know nothing about the disease. I have some of the symptoms of CF but nothing so serious to have ever suspected a serious illness. Do you have to have a CF test to see if you actually have CF or when they did the genetic testing, and they saw I was a carrier this ruled out actually having CF? I am confused.
 
A

amberglp

Guest
I just found out yesterday that I am a carrier for CF after my 16 week test. My husband went in today to get tested to see if he too is a carrier. I know nothing about the disease. I have some of the symptoms of CF but nothing so serious to have ever suspected a serious illness. Do you have to have a CF test to see if you actually have CF or when they did the genetic testing, and they saw I was a carrier this ruled out actually having CF? I am confused.
 
I

ibelievethereishope

New member
The genetics testing would show either of 3 things....1) you actually have CF (two defected genes inherited by both parents, 2) you are a carrier of CF (one defective gene) or 3) you are neither. I too was screened at 16 weeks and found out I was a carrier and had no idea what CF even was. Some OB's are doing this in their bloodwork automatically.
In order for your child to be affected both you and your spouse would have to have the defective gene. From my recent research this happens in about 1 in 400 marriages. If your husband is not a carrier, you are home free. IF, big IF, he is a carrier there is a 25% chance that your child would inherit both defective genes and have the disease, a 25% chance that the child would not be affected at all and a 50% chance that the child would be a carrier only.

Hope that helps.
 
I

ibelievethereishope

New member
The genetics testing would show either of 3 things....1) you actually have CF (two defected genes inherited by both parents, 2) you are a carrier of CF (one defective gene) or 3) you are neither. I too was screened at 16 weeks and found out I was a carrier and had no idea what CF even was. Some OB's are doing this in their bloodwork automatically.
In order for your child to be affected both you and your spouse would have to have the defective gene. From my recent research this happens in about 1 in 400 marriages. If your husband is not a carrier, you are home free. IF, big IF, he is a carrier there is a 25% chance that your child would inherit both defective genes and have the disease, a 25% chance that the child would not be affected at all and a 50% chance that the child would be a carrier only.

Hope that helps.
 
I

ibelievethereishope

New member
The genetics testing would show either of 3 things....1) you actually have CF (two defected genes inherited by both parents, 2) you are a carrier of CF (one defective gene) or 3) you are neither. I too was screened at 16 weeks and found out I was a carrier and had no idea what CF even was. Some OB's are doing this in their bloodwork automatically.
In order for your child to be affected both you and your spouse would have to have the defective gene. From my recent research this happens in about 1 in 400 marriages. If your husband is not a carrier, you are home free. IF, big IF, he is a carrier there is a 25% chance that your child would inherit both defective genes and have the disease, a 25% chance that the child would not be affected at all and a 50% chance that the child would be a carrier only.

Hope that helps.
 
I

ibelievethereishope

New member
<a target=_blank class=ftalternatingbarlinklarge href="http://www.acog.org/from_home/wellness/cf001.htm
">http://www.acog.org/from_home/wellness/cf001.htm
</a>
Here's a website that helped me with basic info when I found out I was a carrier <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
I

ibelievethereishope

New member
<a target=_blank class=ftalternatingbarlinklarge href="http://www.acog.org/from_home/wellness/cf001.htm
">http://www.acog.org/from_home/wellness/cf001.htm
</a>
Here's a website that helped me with basic info when I found out I was a carrier <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
I

ibelievethereishope

New member
<a target=_blank class=ftalternatingbarlinklarge href="http://www.acog.org/from_home/wellness/cf001.htm
">http://www.acog.org/from_home/wellness/cf001.htm
</a>
Here's a website that helped me with basic info when I found out I was a carrier <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
T

tammykrumrey

Guest
amberglp,
It would depend on how many mutations your genetic test searched for as to if it were to see if you actually have CF. If you were to have a common mutation as well as a non-common mutation, and the test done only test for the most common mutations, one could be missed.
I have two daughters with cystic fibrosis. My second one was tested at birth because of her big sister having CF. The genetic test came back stating that she was only a carrier. But I just felt it in my heart it was wrong. So at four weeks old, I took her with me to a CF clinic appt for my older daughter, and they did a sweat test as well as a more extensive genetic test, and her second mutation did in fact show up. It turns out that the first test done only tested for the top 20 common mutations, but the second one tested for the top 36 mutations, and it shows up on that test.
But there are over 1,000 mutations, with some not even found yet. Some genetic test will test for all the known mutations.
I wish you and your husband luck on your new baby<img src="i/expressions/face-icon-small-smile.gif" border="0">
 
T

tammykrumrey

Guest
amberglp,
It would depend on how many mutations your genetic test searched for as to if it were to see if you actually have CF. If you were to have a common mutation as well as a non-common mutation, and the test done only test for the most common mutations, one could be missed.
I have two daughters with cystic fibrosis. My second one was tested at birth because of her big sister having CF. The genetic test came back stating that she was only a carrier. But I just felt it in my heart it was wrong. So at four weeks old, I took her with me to a CF clinic appt for my older daughter, and they did a sweat test as well as a more extensive genetic test, and her second mutation did in fact show up. It turns out that the first test done only tested for the top 20 common mutations, but the second one tested for the top 36 mutations, and it shows up on that test.
But there are over 1,000 mutations, with some not even found yet. Some genetic test will test for all the known mutations.
I wish you and your husband luck on your new baby<img src="i/expressions/face-icon-small-smile.gif" border="0">
 
T

tammykrumrey

Guest
amberglp,
It would depend on how many mutations your genetic test searched for as to if it were to see if you actually have CF. If you were to have a common mutation as well as a non-common mutation, and the test done only test for the most common mutations, one could be missed.
I have two daughters with cystic fibrosis. My second one was tested at birth because of her big sister having CF. The genetic test came back stating that she was only a carrier. But I just felt it in my heart it was wrong. So at four weeks old, I took her with me to a CF clinic appt for my older daughter, and they did a sweat test as well as a more extensive genetic test, and her second mutation did in fact show up. It turns out that the first test done only tested for the top 20 common mutations, but the second one tested for the top 36 mutations, and it shows up on that test.
But there are over 1,000 mutations, with some not even found yet. Some genetic test will test for all the known mutations.
I wish you and your husband luck on your new baby<img src="i/expressions/face-icon-small-smile.gif" border="0">
 
A

Alyssa

New member
Is your question about you? Are you asking if perhaps you could have CF? What are your symptoms?

There are over 1400 mutations, it is entirely possible they only found one gene in your screening and with having CF symptoms I think it could be possible. You don't have to have all the classic CF symptoms to suspect CF, many people have less complications than others -- but that is a pretty big leap with very little information at this point -- it is also very possible you have "carrier symptoms" especially if the gene you have is Delta F508 (do you know what gene you have?). There have been documented studies about carrier symptoms -- it does happen.

You should really talk to your doctor about your symptoms and you should have a full genetic test to see if perhaps you do have two genes. There are more and more mild cases being discovered all the time now -- many adults just now getting diagnosed who have always had some symptoms their whole lives.
 
A

Alyssa

New member
Is your question about you? Are you asking if perhaps you could have CF? What are your symptoms?

There are over 1400 mutations, it is entirely possible they only found one gene in your screening and with having CF symptoms I think it could be possible. You don't have to have all the classic CF symptoms to suspect CF, many people have less complications than others -- but that is a pretty big leap with very little information at this point -- it is also very possible you have "carrier symptoms" especially if the gene you have is Delta F508 (do you know what gene you have?). There have been documented studies about carrier symptoms -- it does happen.

You should really talk to your doctor about your symptoms and you should have a full genetic test to see if perhaps you do have two genes. There are more and more mild cases being discovered all the time now -- many adults just now getting diagnosed who have always had some symptoms their whole lives.
 
A

Alyssa

New member
Is your question about you? Are you asking if perhaps you could have CF? What are your symptoms?

There are over 1400 mutations, it is entirely possible they only found one gene in your screening and with having CF symptoms I think it could be possible. You don't have to have all the classic CF symptoms to suspect CF, many people have less complications than others -- but that is a pretty big leap with very little information at this point -- it is also very possible you have "carrier symptoms" especially if the gene you have is Delta F508 (do you know what gene you have?). There have been documented studies about carrier symptoms -- it does happen.

You should really talk to your doctor about your symptoms and you should have a full genetic test to see if perhaps you do have two genes. There are more and more mild cases being discovered all the time now -- many adults just now getting diagnosed who have always had some symptoms their whole lives.
 
A

amberglp

Guest
thank you so much for responding.... the gene mutuation i have is the Delta F508. my husband and I go in this week to talk to the doctor more in detail about the disease, but all I know at this time is the little info the nurse has told me. i understand that if my husband's results come back negative more than likely our baby is home free which is the most important thing to me. but after reading the symptoms, i have wondered if i possibly have had CF in a very mild form all my life. my fingers are cross for his test to be negative. three days ago i never knew what cf was. thank you and good luck with your great kids.
 
A

amberglp

Guest
thank you so much for responding.... the gene mutuation i have is the Delta F508. my husband and I go in this week to talk to the doctor more in detail about the disease, but all I know at this time is the little info the nurse has told me. i understand that if my husband's results come back negative more than likely our baby is home free which is the most important thing to me. but after reading the symptoms, i have wondered if i possibly have had CF in a very mild form all my life. my fingers are cross for his test to be negative. three days ago i never knew what cf was. thank you and good luck with your great kids.
 
A

amberglp

Guest
thank you so much for responding.... the gene mutuation i have is the Delta F508. my husband and I go in this week to talk to the doctor more in detail about the disease, but all I know at this time is the little info the nurse has told me. i understand that if my husband's results come back negative more than likely our baby is home free which is the most important thing to me. but after reading the symptoms, i have wondered if i possibly have had CF in a very mild form all my life. my fingers are cross for his test to be negative. three days ago i never knew what cf was. thank you and good luck with your great kids.
 
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