HELP-What do you think?

[angelbabies123]

My daughter who is 7 was found to be a carrier right after she was born. Sweat test was neg but i was told to get her tested when she was around 8. She seems normal.

I just had a baby in mid-Jan. Lately we have had problems with him "choking" on his spit. It is really thick. He has mucous in his stool, was bloody but not anymore. He has had a congested nose since one week old, 6 weeks ago which antibiotics did not help. My question is, when does newborn screening test come in and what is the earliest baby can get the sweat test? Does this sound like it to you? With my daughter, they didnt tell me right away because they said she couldnt get the sweat test until she was a certain amount of weeks anyways, so i wonder if they arent telling me because of that. It is scary when he chokes because he cant breathe.

 

[angelbabies123]

My daughter who is 7 was found to be a carrier right after she was born. Sweat test was neg but i was told to get her tested when she was around 8. She seems normal.

I just had a baby in mid-Jan. Lately we have had problems with him "choking" on his spit. It is really thick. He has mucous in his stool, was bloody but not anymore. He has had a congested nose since one week old, 6 weeks ago which antibiotics did not help. My question is, when does newborn screening test come in and what is the earliest baby can get the sweat test? Does this sound like it to you? With my daughter, they didnt tell me right away because they said she couldnt get the sweat test until she was a certain amount of weeks anyways, so i wonder if they arent telling me because of that. It is scary when he chokes because he cant breathe.

 

[angelbabies123]

My daughter who is 7 was found to be a carrier right after she was born. Sweat test was neg but i was told to get her tested when she was around 8. She seems normal.

I just had a baby in mid-Jan. Lately we have had problems with him "choking" on his spit. It is really thick. He has mucous in his stool, was bloody but not anymore. He has had a congested nose since one week old, 6 weeks ago which antibiotics did not help. My question is, when does newborn screening test come in and what is the earliest baby can get the sweat test? Does this sound like it to you? With my daughter, they didnt tell me right away because they said she couldnt get the sweat test until she was a certain amount of weeks anyways, so i wonder if they arent telling me because of that. It is scary when he chokes because he cant breathe.

 

[Mommafirst]

Considering that you know you have some CF genes floating around in your family, I think you would want to press to get some testing done. Its really hard to tell from your explanation, but it certainly could be CF. I think sweat testing can be done at any age, but it is far less predictive, especially under a year. You might want to see if the docs will encourage genetic testing instead or at least in conjunction with a sweat test.<br>
<br>
I'm not sure how the newborn test works, but I believe it does not address all the possible mutations of CF genes as there are over 1500 of them. Good luck. I know its scary. But trust your mommy instinct and don't let anyone tell you you shouldn't!!!!

 

[Mommafirst]

Considering that you know you have some CF genes floating around in your family, I think you would want to press to get some testing done. Its really hard to tell from your explanation, but it certainly could be CF. I think sweat testing can be done at any age, but it is far less predictive, especially under a year. You might want to see if the docs will encourage genetic testing instead or at least in conjunction with a sweat test.<br>
<br>
I'm not sure how the newborn test works, but I believe it does not address all the possible mutations of CF genes as there are over 1500 of them. Good luck. I know its scary. But trust your mommy instinct and don't let anyone tell you you shouldn't!!!!

 

[Mommafirst]

Considering that you know you have some CF genes floating around in your family, I think you would want to press to get some testing done. Its really hard to tell from your explanation, but it certainly could be CF. I think sweat testing can be done at any age, but it is far less predictive, especially under a year. You might want to see if the docs will encourage genetic testing instead or at least in conjunction with a sweat test.<br>
<br>
I'm not sure how the newborn test works, but I believe it does not address all the possible mutations of CF genes as there are over 1500 of them. Good luck. I know its scary. But trust your mommy instinct and don't let anyone tell you you shouldn't!!!!

 

[datca1994]

Hello, my relative is a nurse at a pediatrician's office and she said they conduct heel tests (taking blood from heel which is what is done during newborn screening) at any age. But the result does not come back "yes" or "no."

As in my son's case (5 months old w/CF), the result of the newborn screening test done at 3 days old was "above average levels." At 9 weeks we took him for a sweat test, he did not sweat. Nor did he sweat at 12 weeks. But the doctor did order a test of his stool to see if it was absorbing protein or if it was not absorbing (AKA pancreatic insufficient). And blood was sent for genetic testing.

The doctor said that after getting the stool test back that he was pancreatic insufficient it meant 90% chance that he has CF and the genetic blood testing was not required for further diagnosis but we did it just to be sure.

Good luck and God Bless.

April

 

[datca1994]

Hello, my relative is a nurse at a pediatrician's office and she said they conduct heel tests (taking blood from heel which is what is done during newborn screening) at any age. But the result does not come back "yes" or "no."

As in my son's case (5 months old w/CF), the result of the newborn screening test done at 3 days old was "above average levels." At 9 weeks we took him for a sweat test, he did not sweat. Nor did he sweat at 12 weeks. But the doctor did order a test of his stool to see if it was absorbing protein or if it was not absorbing (AKA pancreatic insufficient). And blood was sent for genetic testing.

The doctor said that after getting the stool test back that he was pancreatic insufficient it meant 90% chance that he has CF and the genetic blood testing was not required for further diagnosis but we did it just to be sure.

Good luck and God Bless.

April

 

[datca1994]

Hello, my relative is a nurse at a pediatrician's office and she said they conduct heel tests (taking blood from heel which is what is done during newborn screening) at any age. But the result does not come back "yes" or "no."

As in my son's case (5 months old w/CF), the result of the newborn screening test done at 3 days old was "above average levels." At 9 weeks we took him for a sweat test, he did not sweat. Nor did he sweat at 12 weeks. But the doctor did order a test of his stool to see if it was absorbing protein or if it was not absorbing (AKA pancreatic insufficient). And blood was sent for genetic testing.

The doctor said that after getting the stool test back that he was pancreatic insufficient it meant 90% chance that he has CF and the genetic blood testing was not required for further diagnosis but we did it just to be sure.

Good luck and God Bless.

April

 

[GrammyB]

My granddaughter tested positive for CF through the newborn screening blood test. No diagnosis was made from this, however, because the doctor said there are often false positives. Her sweat test was done when she was less than two weeks old. There was no doubt.

 

[GrammyB]

My granddaughter tested positive for CF through the newborn screening blood test. No diagnosis was made from this, however, because the doctor said there are often false positives. Her sweat test was done when she was less than two weeks old. There was no doubt.

 

[GrammyB]

My granddaughter tested positive for CF through the newborn screening blood test. No diagnosis was made from this, however, because the doctor said there are often false positives. Her sweat test was done when she was less than two weeks old. There was no doubt.

 

[Alyssa]

Ask for full genetic testing on both of your kids.

If you have time, please read the first entry on my blog page (link in my signature line)

Your son should be able to have a sweat test now, but it is sometimes hard to get enough sweat at a younger age, but also even if they do get enough to accurately test, sometimes sweat tests can be inconclusive or very misleading (when someone is in the borderline or high normal) It's really best to get the genetic testing (and make sure they don't do a limited, less expensive test) Make sure they are testing for ALL known genes -- the previous poster is correct there are now over 1500 to test for - some doctors & insurance companies have a problem with doing it, but with your daughter having one for sure and your son having symptoms you should have a pretty strong case for wanting it done.

Sometimes it can take a while to jump through all the hoops for testing, so be prepared to be pushy. If you can get to a certified CF clinic it would be helpful - they know what they are looking for and the tend to "believe" the parents (some GP's just are not familiar enough with CF) but CF docs know how tricky it can be to diagnose those cases that are a little out of the ordinary.

Best of luck, be sure to keep us posted.

 

[Alyssa]

Ask for full genetic testing on both of your kids.

If you have time, please read the first entry on my blog page (link in my signature line)

Your son should be able to have a sweat test now, but it is sometimes hard to get enough sweat at a younger age, but also even if they do get enough to accurately test, sometimes sweat tests can be inconclusive or very misleading (when someone is in the borderline or high normal) It's really best to get the genetic testing (and make sure they don't do a limited, less expensive test) Make sure they are testing for ALL known genes -- the previous poster is correct there are now over 1500 to test for - some doctors & insurance companies have a problem with doing it, but with your daughter having one for sure and your son having symptoms you should have a pretty strong case for wanting it done.

Sometimes it can take a while to jump through all the hoops for testing, so be prepared to be pushy. If you can get to a certified CF clinic it would be helpful - they know what they are looking for and the tend to "believe" the parents (some GP's just are not familiar enough with CF) but CF docs know how tricky it can be to diagnose those cases that are a little out of the ordinary.

Best of luck, be sure to keep us posted.

 

[Alyssa]

Ask for full genetic testing on both of your kids.

If you have time, please read the first entry on my blog page (link in my signature line)

Your son should be able to have a sweat test now, but it is sometimes hard to get enough sweat at a younger age, but also even if they do get enough to accurately test, sometimes sweat tests can be inconclusive or very misleading (when someone is in the borderline or high normal) It's really best to get the genetic testing (and make sure they don't do a limited, less expensive test) Make sure they are testing for ALL known genes -- the previous poster is correct there are now over 1500 to test for - some doctors & insurance companies have a problem with doing it, but with your daughter having one for sure and your son having symptoms you should have a pretty strong case for wanting it done.

Sometimes it can take a while to jump through all the hoops for testing, so be prepared to be pushy. If you can get to a certified CF clinic it would be helpful - they know what they are looking for and the tend to "believe" the parents (some GP's just are not familiar enough with CF) but CF docs know how tricky it can be to diagnose those cases that are a little out of the ordinary.

Best of luck, be sure to keep us posted.