Wow, I apologize if my post seemed negative - that was not my intention at all. Normally I am one of those people that think some members on this part of the board are going overboard in thinking everyone needs full genetic testing. I've seen it pushed time and time again when it doesn't seem necessary, so I do not think it is warranted in all cases. But if you know that one partner is a carrier and you are not sure if the other one is or not, I just wanted to inform you that the tests don't cover the most common mutations, just one common mutation and some random other ones. And when I said "cheated by the system" I meant you had to go through unnecessary suffering while awaiting results, when it turned out your child didn't have cf after all. Not something that you should have to go through at a time when you should just be able to enjoy your newborn stress free(except for sleepless nights<img src="i/expressions/face-icon-small-happy.gif" border="0">). Again, I feel bad that my post may have come across negatively. So sorry.
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Wow, I apologize if my post seemed negative - that was not my intention at all. Normally I am one of those people that think some members on this part of the board are going overboard in thinking everyone needs full genetic testing. I've seen it pushed time and time again when it doesn't seem necessary, so I do not think it is warranted in all cases. But if you know that one partner is a carrier and you are not sure if the other one is or not, I just wanted to inform you that the tests don't cover the most common mutations, just one common mutation and some random other ones. And when I said "cheated by the system" I meant you had to go through unnecessary suffering while awaiting results, when it turned out your child didn't have cf after all. Not something that you should have to go through at a time when you should just be able to enjoy your newborn stress free(except for sleepless nights<img src="i/expressions/face-icon-small-happy.gif" border="0">). Again, I feel bad that my post may have come across negatively. So sorry.
Wow, I apologize if my post seemed negative - that was not my intention at all. Normally I am one of those people that think some members on this part of the board are going overboard in thinking everyone needs full genetic testing. I've seen it pushed time and time again when it doesn't seem necessary, so I do not think it is warranted in all cases. But if you know that one partner is a carrier and you are not sure if the other one is or not, I just wanted to inform you that the tests don't cover the most common mutations, just one common mutation and some random other ones. And when I said "cheated by the system" I meant you had to go through unnecessary suffering while awaiting results, when it turned out your child didn't have cf after all. Not something that you should have to go through at a time when you should just be able to enjoy your newborn stress free(except for sleepless nights<img src="i/expressions/face-icon-small-happy.gif" border="0">). Again, I feel bad that my post may have come across negatively. So sorry.
Wow, I apologize if my post seemed negative - that was not my intention at all. Normally I am one of those people that think some members on this part of the board are going overboard in thinking everyone needs full genetic testing. I've seen it pushed time and time again when it doesn't seem necessary, so I do not think it is warranted in all cases. But if you know that one partner is a carrier and you are not sure if the other one is or not, I just wanted to inform you that the tests don't cover the most common mutations, just one common mutation and some random other ones. And when I said "cheated by the system" I meant you had to go through unnecessary suffering while awaiting results, when it turned out your child didn't have cf after all. Not something that you should have to go through at a time when you should just be able to enjoy your newborn stress free(except for sleepless nights<img src="i/expressions/face-icon-small-happy.gif" border="0">). Again, I feel bad that my post may have come across negatively. So sorry.
Wow, I apologize if my post seemed negative - that was not my intention at all. Normally I am one of those people that think some members on this part of the board are going overboard in thinking everyone needs full genetic testing. I've seen it pushed time and time again when it doesn't seem necessary, so I do not think it is warranted in all cases. But if you know that one partner is a carrier and you are not sure if the other one is or not, I just wanted to inform you that the tests don't cover the most common mutations, just one common mutation and some random other ones. And when I said "cheated by the system" I meant you had to go through unnecessary suffering while awaiting results, when it turned out your child didn't have cf after all. Not something that you should have to go through at a time when you should just be able to enjoy your newborn stress free(except for sleepless nights<img src="i/expressions/face-icon-small-happy.gif" border="0">). Again, I feel bad that my post may have come across negatively. So sorry.
ourmiraclekidz
New member
Hey everyone I am new and live in NY. I just got a positive screen today for my son Jason who was born in May. I am terrified but from reading this thread I am not sure if I am freaking out too soon.
Here is what came back...
<b>mutation of p.F508del one copy
and
>=Top 5% IRT=64.2ng/ml
The risk that this baby has CF is less than 4%</b>
From what I am reading here it seems like our chances of Jason having CF is really really low and furthermore NYS has a really low threshold for the IRT compared to things I have read and other states cutoffs.
I am really terrified. Our older son was born with severe brain damage and is doing amazingly well considering but still has significant issues (dev delayed, epilespy).
If Jason's has CF first I will be devastated for him <img src="i/expressions/face-icon-small-sad.gif" border="0"> and secondly I don't know how we will be able to do it. How will we keep it together without crumbling?
Anyone have any words of wisdom right now. I know tonight I will not be able to sleep. What happened with our first son Chris was a less than 1% of the population when he was born. So 4% is high to us since we have had lightning strike already <img src="i/expressions/face-icon-small-sad.gif" border="0">
i editted to add these two questions
First hubby was tested while I was pregnant because the screening said I was a carrier. He was not. I know they do not screen for all but being Jason has a common one and hubby doesn't this could mean he is only a carrier correct?
AND my next question do the mutations have to be the same for CF or could Jason have the 508 one and also have another random rare one and therefore have CF or does he have to have 2 of the same mutations (like 2 508s)?
Thanks everyone
Here is what came back...
<b>mutation of p.F508del one copy
and
>=Top 5% IRT=64.2ng/ml
The risk that this baby has CF is less than 4%</b>
From what I am reading here it seems like our chances of Jason having CF is really really low and furthermore NYS has a really low threshold for the IRT compared to things I have read and other states cutoffs.
I am really terrified. Our older son was born with severe brain damage and is doing amazingly well considering but still has significant issues (dev delayed, epilespy).
If Jason's has CF first I will be devastated for him <img src="i/expressions/face-icon-small-sad.gif" border="0"> and secondly I don't know how we will be able to do it. How will we keep it together without crumbling?
Anyone have any words of wisdom right now. I know tonight I will not be able to sleep. What happened with our first son Chris was a less than 1% of the population when he was born. So 4% is high to us since we have had lightning strike already <img src="i/expressions/face-icon-small-sad.gif" border="0">
i editted to add these two questions
First hubby was tested while I was pregnant because the screening said I was a carrier. He was not. I know they do not screen for all but being Jason has a common one and hubby doesn't this could mean he is only a carrier correct?
AND my next question do the mutations have to be the same for CF or could Jason have the 508 one and also have another random rare one and therefore have CF or does he have to have 2 of the same mutations (like 2 508s)?
Thanks everyone
ourmiraclekidz
New member
Hey everyone I am new and live in NY. I just got a positive screen today for my son Jason who was born in May. I am terrified but from reading this thread I am not sure if I am freaking out too soon.
Here is what came back...
<b>mutation of p.F508del one copy
and
>=Top 5% IRT=64.2ng/ml
The risk that this baby has CF is less than 4%</b>
From what I am reading here it seems like our chances of Jason having CF is really really low and furthermore NYS has a really low threshold for the IRT compared to things I have read and other states cutoffs.
I am really terrified. Our older son was born with severe brain damage and is doing amazingly well considering but still has significant issues (dev delayed, epilespy).
If Jason's has CF first I will be devastated for him <img src="i/expressions/face-icon-small-sad.gif" border="0"> and secondly I don't know how we will be able to do it. How will we keep it together without crumbling?
Anyone have any words of wisdom right now. I know tonight I will not be able to sleep. What happened with our first son Chris was a less than 1% of the population when he was born. So 4% is high to us since we have had lightning strike already <img src="i/expressions/face-icon-small-sad.gif" border="0">
i editted to add these two questions
First hubby was tested while I was pregnant because the screening said I was a carrier. He was not. I know they do not screen for all but being Jason has a common one and hubby doesn't this could mean he is only a carrier correct?
AND my next question do the mutations have to be the same for CF or could Jason have the 508 one and also have another random rare one and therefore have CF or does he have to have 2 of the same mutations (like 2 508s)?
Thanks everyone
Here is what came back...
<b>mutation of p.F508del one copy
and
>=Top 5% IRT=64.2ng/ml
The risk that this baby has CF is less than 4%</b>
From what I am reading here it seems like our chances of Jason having CF is really really low and furthermore NYS has a really low threshold for the IRT compared to things I have read and other states cutoffs.
I am really terrified. Our older son was born with severe brain damage and is doing amazingly well considering but still has significant issues (dev delayed, epilespy).
If Jason's has CF first I will be devastated for him <img src="i/expressions/face-icon-small-sad.gif" border="0"> and secondly I don't know how we will be able to do it. How will we keep it together without crumbling?
Anyone have any words of wisdom right now. I know tonight I will not be able to sleep. What happened with our first son Chris was a less than 1% of the population when he was born. So 4% is high to us since we have had lightning strike already <img src="i/expressions/face-icon-small-sad.gif" border="0">
i editted to add these two questions
First hubby was tested while I was pregnant because the screening said I was a carrier. He was not. I know they do not screen for all but being Jason has a common one and hubby doesn't this could mean he is only a carrier correct?
AND my next question do the mutations have to be the same for CF or could Jason have the 508 one and also have another random rare one and therefore have CF or does he have to have 2 of the same mutations (like 2 508s)?
Thanks everyone
ourmiraclekidz
New member
Hey everyone I am new and live in NY. I just got a positive screen today for my son Jason who was born in May. I am terrified but from reading this thread I am not sure if I am freaking out too soon.
Here is what came back...
<b>mutation of p.F508del one copy
and
>=Top 5% IRT=64.2ng/ml
The risk that this baby has CF is less than 4%</b>
From what I am reading here it seems like our chances of Jason having CF is really really low and furthermore NYS has a really low threshold for the IRT compared to things I have read and other states cutoffs.
I am really terrified. Our older son was born with severe brain damage and is doing amazingly well considering but still has significant issues (dev delayed, epilespy).
If Jason's has CF first I will be devastated for him <img src="i/expressions/face-icon-small-sad.gif" border="0"> and secondly I don't know how we will be able to do it. How will we keep it together without crumbling?
Anyone have any words of wisdom right now. I know tonight I will not be able to sleep. What happened with our first son Chris was a less than 1% of the population when he was born. So 4% is high to us since we have had lightning strike already <img src="i/expressions/face-icon-small-sad.gif" border="0">
i editted to add these two questions
First hubby was tested while I was pregnant because the screening said I was a carrier. He was not. I know they do not screen for all but being Jason has a common one and hubby doesn't this could mean he is only a carrier correct?
AND my next question do the mutations have to be the same for CF or could Jason have the 508 one and also have another random rare one and therefore have CF or does he have to have 2 of the same mutations (like 2 508s)?
Thanks everyone
Here is what came back...
<b>mutation of p.F508del one copy
and
>=Top 5% IRT=64.2ng/ml
The risk that this baby has CF is less than 4%</b>
From what I am reading here it seems like our chances of Jason having CF is really really low and furthermore NYS has a really low threshold for the IRT compared to things I have read and other states cutoffs.
I am really terrified. Our older son was born with severe brain damage and is doing amazingly well considering but still has significant issues (dev delayed, epilespy).
If Jason's has CF first I will be devastated for him <img src="i/expressions/face-icon-small-sad.gif" border="0"> and secondly I don't know how we will be able to do it. How will we keep it together without crumbling?
Anyone have any words of wisdom right now. I know tonight I will not be able to sleep. What happened with our first son Chris was a less than 1% of the population when he was born. So 4% is high to us since we have had lightning strike already <img src="i/expressions/face-icon-small-sad.gif" border="0">
i editted to add these two questions
First hubby was tested while I was pregnant because the screening said I was a carrier. He was not. I know they do not screen for all but being Jason has a common one and hubby doesn't this could mean he is only a carrier correct?
AND my next question do the mutations have to be the same for CF or could Jason have the 508 one and also have another random rare one and therefore have CF or does he have to have 2 of the same mutations (like 2 508s)?
Thanks everyone
ourmiraclekidz
New member
Hey everyone I am new and live in NY. I just got a positive screen today for my son Jason who was born in May. I am terrified but from reading this thread I am not sure if I am freaking out too soon.
Here is what came back...
<b>mutation of p.F508del one copy
and
>=Top 5% IRT=64.2ng/ml
The risk that this baby has CF is less than 4%</b>
From what I am reading here it seems like our chances of Jason having CF is really really low and furthermore NYS has a really low threshold for the IRT compared to things I have read and other states cutoffs.
I am really terrified. Our older son was born with severe brain damage and is doing amazingly well considering but still has significant issues (dev delayed, epilespy).
If Jason's has CF first I will be devastated for him <img src="i/expressions/face-icon-small-sad.gif" border="0"> and secondly I don't know how we will be able to do it. How will we keep it together without crumbling?
Anyone have any words of wisdom right now. I know tonight I will not be able to sleep. What happened with our first son Chris was a less than 1% of the population when he was born. So 4% is high to us since we have had lightning strike already <img src="i/expressions/face-icon-small-sad.gif" border="0">
i editted to add these two questions
First hubby was tested while I was pregnant because the screening said I was a carrier. He was not. I know they do not screen for all but being Jason has a common one and hubby doesn't this could mean he is only a carrier correct?
AND my next question do the mutations have to be the same for CF or could Jason have the 508 one and also have another random rare one and therefore have CF or does he have to have 2 of the same mutations (like 2 508s)?
Thanks everyone
Here is what came back...
<b>mutation of p.F508del one copy
and
>=Top 5% IRT=64.2ng/ml
The risk that this baby has CF is less than 4%</b>
From what I am reading here it seems like our chances of Jason having CF is really really low and furthermore NYS has a really low threshold for the IRT compared to things I have read and other states cutoffs.
I am really terrified. Our older son was born with severe brain damage and is doing amazingly well considering but still has significant issues (dev delayed, epilespy).
If Jason's has CF first I will be devastated for him <img src="i/expressions/face-icon-small-sad.gif" border="0"> and secondly I don't know how we will be able to do it. How will we keep it together without crumbling?
Anyone have any words of wisdom right now. I know tonight I will not be able to sleep. What happened with our first son Chris was a less than 1% of the population when he was born. So 4% is high to us since we have had lightning strike already <img src="i/expressions/face-icon-small-sad.gif" border="0">
i editted to add these two questions
First hubby was tested while I was pregnant because the screening said I was a carrier. He was not. I know they do not screen for all but being Jason has a common one and hubby doesn't this could mean he is only a carrier correct?
AND my next question do the mutations have to be the same for CF or could Jason have the 508 one and also have another random rare one and therefore have CF or does he have to have 2 of the same mutations (like 2 508s)?
Thanks everyone
ourmiraclekidz
New member
Hey everyone I am new and live in NY. I just got a positive screen today for my son Jason who was born in May. I am terrified but from reading this thread I am not sure if I am freaking out too soon.
<br />
<br />Here is what came back...
<br /><b>mutation of p.F508del one copy
<br />and
<br />>=Top 5% IRT=64.2ng/ml
<br />
<br />The risk that this baby has CF is less than 4%</b>
<br />
<br />
<br />From what I am reading here it seems like our chances of Jason having CF is really really low and furthermore NYS has a really low threshold for the IRT compared to things I have read and other states cutoffs.
<br />
<br />I am really terrified. Our older son was born with severe brain damage and is doing amazingly well considering but still has significant issues (dev delayed, epilespy).
<br />
<br />If Jason's has CF first I will be devastated for him <img src="i/expressions/face-icon-small-sad.gif" border="0"> and secondly I don't know how we will be able to do it. How will we keep it together without crumbling?
<br />
<br />Anyone have any words of wisdom right now. I know tonight I will not be able to sleep. What happened with our first son Chris was a less than 1% of the population when he was born. So 4% is high to us since we have had lightning strike already <img src="i/expressions/face-icon-small-sad.gif" border="0">
<br />
<br />i editted to add these two questions
<br />First hubby was tested while I was pregnant because the screening said I was a carrier. He was not. I know they do not screen for all but being Jason has a common one and hubby doesn't this could mean he is only a carrier correct?
<br />
<br />AND my next question do the mutations have to be the same for CF or could Jason have the 508 one and also have another random rare one and therefore have CF or does he have to have 2 of the same mutations (like 2 508s)?
<br />
<br />Thanks everyone
<br />
<br />Here is what came back...
<br /><b>mutation of p.F508del one copy
<br />and
<br />>=Top 5% IRT=64.2ng/ml
<br />
<br />The risk that this baby has CF is less than 4%</b>
<br />
<br />
<br />From what I am reading here it seems like our chances of Jason having CF is really really low and furthermore NYS has a really low threshold for the IRT compared to things I have read and other states cutoffs.
<br />
<br />I am really terrified. Our older son was born with severe brain damage and is doing amazingly well considering but still has significant issues (dev delayed, epilespy).
<br />
<br />If Jason's has CF first I will be devastated for him <img src="i/expressions/face-icon-small-sad.gif" border="0"> and secondly I don't know how we will be able to do it. How will we keep it together without crumbling?
<br />
<br />Anyone have any words of wisdom right now. I know tonight I will not be able to sleep. What happened with our first son Chris was a less than 1% of the population when he was born. So 4% is high to us since we have had lightning strike already <img src="i/expressions/face-icon-small-sad.gif" border="0">
<br />
<br />i editted to add these two questions
<br />First hubby was tested while I was pregnant because the screening said I was a carrier. He was not. I know they do not screen for all but being Jason has a common one and hubby doesn't this could mean he is only a carrier correct?
<br />
<br />AND my next question do the mutations have to be the same for CF or could Jason have the 508 one and also have another random rare one and therefore have CF or does he have to have 2 of the same mutations (like 2 508s)?
<br />
<br />Thanks everyone
I'm sad to say the lack of symtoms doens't mean a whole lot. We fell into the same category. My daughter was flagged at birth and sent for a sweat test (which came back inconclusive because at 2 weeks old she couldn't produce enough sweat) During the next month we ran all the probability numbers too.... it wasn't in either family, her poop was normal, she wasn't eating a ton and not gaining weight, she didn't taste salty... you know... all the stuff. So when we finally got around to the second sweat test, I was conviced it was just a formality... but sadly, she came back positive. On the bright side, getting diagnosed at birth is a huge advantage... and if she is positive she may have a less severe case.
I wish you all the luck... hoping she comes back negative... and congratulations on a new baby girl!!!!
I wish you all the luck... hoping she comes back negative... and congratulations on a new baby girl!!!!
I'm sad to say the lack of symtoms doens't mean a whole lot. We fell into the same category. My daughter was flagged at birth and sent for a sweat test (which came back inconclusive because at 2 weeks old she couldn't produce enough sweat) During the next month we ran all the probability numbers too.... it wasn't in either family, her poop was normal, she wasn't eating a ton and not gaining weight, she didn't taste salty... you know... all the stuff. So when we finally got around to the second sweat test, I was conviced it was just a formality... but sadly, she came back positive. On the bright side, getting diagnosed at birth is a huge advantage... and if she is positive she may have a less severe case.
I wish you all the luck... hoping she comes back negative... and congratulations on a new baby girl!!!!
I wish you all the luck... hoping she comes back negative... and congratulations on a new baby girl!!!!
I'm sad to say the lack of symtoms doens't mean a whole lot. We fell into the same category. My daughter was flagged at birth and sent for a sweat test (which came back inconclusive because at 2 weeks old she couldn't produce enough sweat) During the next month we ran all the probability numbers too.... it wasn't in either family, her poop was normal, she wasn't eating a ton and not gaining weight, she didn't taste salty... you know... all the stuff. So when we finally got around to the second sweat test, I was conviced it was just a formality... but sadly, she came back positive. On the bright side, getting diagnosed at birth is a huge advantage... and if she is positive she may have a less severe case.
I wish you all the luck... hoping she comes back negative... and congratulations on a new baby girl!!!!
I wish you all the luck... hoping she comes back negative... and congratulations on a new baby girl!!!!
I'm sad to say the lack of symtoms doens't mean a whole lot. We fell into the same category. My daughter was flagged at birth and sent for a sweat test (which came back inconclusive because at 2 weeks old she couldn't produce enough sweat) During the next month we ran all the probability numbers too.... it wasn't in either family, her poop was normal, she wasn't eating a ton and not gaining weight, she didn't taste salty... you know... all the stuff. So when we finally got around to the second sweat test, I was conviced it was just a formality... but sadly, she came back positive. On the bright side, getting diagnosed at birth is a huge advantage... and if she is positive she may have a less severe case.
I wish you all the luck... hoping she comes back negative... and congratulations on a new baby girl!!!!
I wish you all the luck... hoping she comes back negative... and congratulations on a new baby girl!!!!
I'm sad to say the lack of symtoms doens't mean a whole lot. We fell into the same category. My daughter was flagged at birth and sent for a sweat test (which came back inconclusive because at 2 weeks old she couldn't produce enough sweat) During the next month we ran all the probability numbers too.... it wasn't in either family, her poop was normal, she wasn't eating a ton and not gaining weight, she didn't taste salty... you know... all the stuff. So when we finally got around to the second sweat test, I was conviced it was just a formality... but sadly, she came back positive. On the bright side, getting diagnosed at birth is a huge advantage... and if she is positive she may have a less severe case.
<br />I wish you all the luck... hoping she comes back negative... and congratulations on a new baby girl!!!!
<br />I wish you all the luck... hoping she comes back negative... and congratulations on a new baby girl!!!!