new dx

hmw · Apr 25, 2010

<div class="FTQUOTE"><begin quote>They have back dna and he has his mom Mutation gene??</end quote></div>
What this means is:
In order to have cf, you must inherit a defective copy of the gene that causes the disease from each parent (cf is an autosomal recessive disease.) Thus far, they have identified one of his mutations and it matches the one his mother has been identified to be a carrier of. Some mutations are easily identified with a quick panel test, others require a more thorough genetic test to find- there are more than 1,600 identified mutations! At this point, doing a more thorough genetic test on the baby makes more sense than testing the father, since after the father is tested they will need to test the baby anyway... and since his clinical symptoms suggest the disease insurance will cover it. It is also routine to repeat the IRT testing 1-2wks after birth if the first one is elevated. A sweat test will likely also be done at some point.

So glad to hear that he has gained a little bit of weight- hope to hear that he continues to make progress and that surgery goes well. <img src="i/expressions/face-icon-small-smile.gif" border="0"> Please continue to post with any questions you have & encourage the baby's parents to come here as well. We are here for support along this journey. <img src="i/expressions/rose.gif" border="0">

hmw · Apr 25, 2010

<div class="FTQUOTE"><begin quote>They have back dna and he has his mom Mutation gene??</end quote></div>
What this means is:
In order to have cf, you must inherit a defective copy of the gene that causes the disease from each parent (cf is an autosomal recessive disease.) Thus far, they have identified one of his mutations and it matches the one his mother has been identified to be a carrier of. Some mutations are easily identified with a quick panel test, others require a more thorough genetic test to find- there are more than 1,600 identified mutations! At this point, doing a more thorough genetic test on the baby makes more sense than testing the father, since after the father is tested they will need to test the baby anyway... and since his clinical symptoms suggest the disease insurance will cover it. It is also routine to repeat the IRT testing 1-2wks after birth if the first one is elevated. A sweat test will likely also be done at some point.

So glad to hear that he has gained a little bit of weight- hope to hear that he continues to make progress and that surgery goes well. <img src="i/expressions/face-icon-small-smile.gif" border="0"> Please continue to post with any questions you have & encourage the baby's parents to come here as well. We are here for support along this journey. <img src="i/expressions/rose.gif" border="0">

hmw · Apr 25, 2010

<div class="FTQUOTE"><begin quote>They have back dna and he has his mom Mutation gene??</end quote></div>
What this means is:
In order to have cf, you must inherit a defective copy of the gene that causes the disease from each parent (cf is an autosomal recessive disease.) Thus far, they have identified one of his mutations and it matches the one his mother has been identified to be a carrier of. Some mutations are easily identified with a quick panel test, others require a more thorough genetic test to find- there are more than 1,600 identified mutations! At this point, doing a more thorough genetic test on the baby makes more sense than testing the father, since after the father is tested they will need to test the baby anyway... and since his clinical symptoms suggest the disease insurance will cover it. It is also routine to repeat the IRT testing 1-2wks after birth if the first one is elevated. A sweat test will likely also be done at some point.

So glad to hear that he has gained a little bit of weight- hope to hear that he continues to make progress and that surgery goes well. <img src="i/expressions/face-icon-small-smile.gif" border="0"> Please continue to post with any questions you have & encourage the baby's parents to come here as well. We are here for support along this journey. <img src="i/expressions/rose.gif" border="0">

hmw · Apr 25, 2010

<div class="FTQUOTE"><begin quote>They have back dna and he has his mom Mutation gene??</end quote>
What this means is:
In order to have cf, you must inherit a defective copy of the gene that causes the disease from each parent (cf is an autosomal recessive disease.) Thus far, they have identified one of his mutations and it matches the one his mother has been identified to be a carrier of. Some mutations are easily identified with a quick panel test, others require a more thorough genetic test to find- there are more than 1,600 identified mutations! At this point, doing a more thorough genetic test on the baby makes more sense than testing the father, since after the father is tested they will need to test the baby anyway... and since his clinical symptoms suggest the disease insurance will cover it. It is also routine to repeat the IRT testing 1-2wks after birth if the first one is elevated. A sweat test will likely also be done at some point.

So glad to hear that he has gained a little bit of weight- hope to hear that he continues to make progress and that surgery goes well. <img src="i/expressions/face-icon-small-smile.gif" border="0"> Please continue to post with any questions you have & encourage the baby's parents to come here as well. We are here for support along this journey. <img src="i/expressions/rose.gif" border="0">

hmw · Apr 25, 2010

<div class="FTQUOTE"><begin quote>They have back dna and he has his mom Mutation gene??</end quote>
<br />What this means is:
<br />In order to have cf, you must inherit a defective copy of the gene that causes the disease from each parent (cf is an autosomal recessive disease.) Thus far, they have identified one of his mutations and it matches the one his mother has been identified to be a carrier of. Some mutations are easily identified with a quick panel test, others require a more thorough genetic test to find- there are more than 1,600 identified mutations! At this point, doing a more thorough genetic test on the baby makes more sense than testing the father, since after the father is tested they will need to test the baby anyway... and since his clinical symptoms suggest the disease insurance will cover it. It is also routine to repeat the IRT testing 1-2wks after birth if the first one is elevated. A sweat test will likely also be done at some point.
<br />
<br />So glad to hear that he has gained a little bit of weight- hope to hear that he continues to make progress and that surgery goes well. <img src="i/expressions/face-icon-small-smile.gif" border="0"> Please continue to post with any questions you have & encourage the baby's parents to come here as well. We are here for support along this journey. <img src="i/expressions/rose.gif" border="0">

mindy8429 · Apr 25, 2010

thank you for your help. I believe they are testing his irt's again. They are going to do the sweat test after he is 4 weeks old. this site has really been helpful for me. I am going to inform his parents of this site once they come home. I am not sure she can handle all of this information now. that is why i am trying to find out all i can to try to help until they are ready for all of the information. just a lot to take in. I know this forum will help them with baby Clark. thank you again

mindy8429 · Apr 25, 2010

thank you for your help. I believe they are testing his irt's again. They are going to do the sweat test after he is 4 weeks old. this site has really been helpful for me. I am going to inform his parents of this site once they come home. I am not sure she can handle all of this information now. that is why i am trying to find out all i can to try to help until they are ready for all of the information. just a lot to take in. I know this forum will help them with baby Clark. thank you again

mindy8429 · Apr 25, 2010

thank you for your help. I believe they are testing his irt's again. They are going to do the sweat test after he is 4 weeks old. this site has really been helpful for me. I am going to inform his parents of this site once they come home. I am not sure she can handle all of this information now. that is why i am trying to find out all i can to try to help until they are ready for all of the information. just a lot to take in. I know this forum will help them with baby Clark. thank you again

mindy8429 · Apr 25, 2010

thank you for your help. I believe they are testing his irt's again. They are going to do the sweat test after he is 4 weeks old. this site has really been helpful for me. I am going to inform his parents of this site once they come home. I am not sure she can handle all of this information now. that is why i am trying to find out all i can to try to help until they are ready for all of the information. just a lot to take in. I know this forum will help them with baby Clark. thank you again

mindy8429 · Apr 25, 2010

thank you for your help. I believe they are testing his irt's again. They are going to do the sweat test after he is 4 weeks old. this site has really been helpful for me. I am going to inform his parents of this site once they come home. I am not sure she can handle all of this information now. that is why i am trying to find out all i can to try to help until they are ready for all of the information. just a lot to take in. I know this forum will help them with baby Clark. thank you again

hmw · Apr 25, 2010