3 yr old with possible cf

[mommyof3rugrats]

hi i am just looking for information if anyone has any about my 3 yr old daughter whom i think has cf. since birth she has had problems with bowels being solid with mucus, poor weight gain (always in the 5th but mostly dropping off the chart.) at the age of 1 she weighed 18lbs, and at 3 finally making it up to 24lbs. she is fine on height, has a constant cough that wakes her at night so bad shes vomiting and always has petechia all over her face. she is constantly sick with uri, bronchitis, and has had bronchiolitis which is a mild version of rsv. her dr thinks shes fine because she was tested as a newborn but a lot of things i have read say that the blood test isnt definitive. has anyone else had a child with these same symptoms that turned out to be cf? do you have any advice?

 

[mommyof3rugrats]

hi i am just looking for information if anyone has any about my 3 yr old daughter whom i think has cf. since birth she has had problems with bowels being solid with mucus, poor weight gain (always in the 5th but mostly dropping off the chart.) at the age of 1 she weighed 18lbs, and at 3 finally making it up to 24lbs. she is fine on height, has a constant cough that wakes her at night so bad shes vomiting and always has petechia all over her face. she is constantly sick with uri, bronchitis, and has had bronchiolitis which is a mild version of rsv. her dr thinks shes fine because she was tested as a newborn but a lot of things i have read say that the blood test isnt definitive. has anyone else had a child with these same symptoms that turned out to be cf? do you have any advice?

 

[mommyof3rugrats]

hi i am just looking for information if anyone has any about my 3 yr old daughter whom i think has cf. since birth she has had problems with bowels being solid with mucus, poor weight gain (always in the 5th but mostly dropping off the chart.) at the age of 1 she weighed 18lbs, and at 3 finally making it up to 24lbs. she is fine on height, has a constant cough that wakes her at night so bad shes vomiting and always has petechia all over her face. she is constantly sick with uri, bronchitis, and has had bronchiolitis which is a mild version of rsv. her dr thinks shes fine because she was tested as a newborn but a lot of things i have read say that the blood test isnt definitive. has anyone else had a child with these same symptoms that turned out to be cf? do you have any advice?

 

[petnurse]

Hi! Welcome to the site. I do not have experience with a false negative, but the newborn screen is just that...a screen. They see a lot of false positives, and they see false negatives. If you look around on this site, you will see a lot of posts from people with the same problem. Pediatricians are notorioous for underdiagnosing CF. The disease is so complex, and changing every day because of new treatments. I think doctors expect to see extremely sick children in order to diagnose, and for the most part that is not the case anymore. If your doctor will not help you, I urge you to go to cff.org and search for an accredited CF center. Call them, up yoourself and make an appt to see a pulmonologist. They can do a sweat test (do not let a regular doctor's office do this test) and get you some answers. I hope your child does not have CF, but there are so many new treatments and the sooner you get things treated, the better! Good luck .

 

[petnurse]

Hi! Welcome to the site. I do not have experience with a false negative, but the newborn screen is just that...a screen. They see a lot of false positives, and they see false negatives. If you look around on this site, you will see a lot of posts from people with the same problem. Pediatricians are notorioous for underdiagnosing CF. The disease is so complex, and changing every day because of new treatments. I think doctors expect to see extremely sick children in order to diagnose, and for the most part that is not the case anymore. If your doctor will not help you, I urge you to go to cff.org and search for an accredited CF center. Call them, up yoourself and make an appt to see a pulmonologist. They can do a sweat test (do not let a regular doctor's office do this test) and get you some answers. I hope your child does not have CF, but there are so many new treatments and the sooner you get things treated, the better! Good luck .

 

[petnurse]

Hi! Welcome to the site. I do not have experience with a false negative, but the newborn screen is just that...a screen. They see a lot of false positives, and they see false negatives. If you look around on this site, you will see a lot of posts from people with the same problem. Pediatricians are notorioous for underdiagnosing CF. The disease is so complex, and changing every day because of new treatments. I think doctors expect to see extremely sick children in order to diagnose, and for the most part that is not the case anymore. If your doctor will not help you, I urge you to go to cff.org and search for an accredited CF center. Call them, up yoourself and make an appt to see a pulmonologist. They can do a sweat test (do not let a regular doctor's office do this test) and get you some answers. I hope your child does not have CF, but there are so many new treatments and the sooner you get things treated, the better! Good luck .

 

[Mommafirst]

I think you are smart to be investigating CF considering those symptoms.

Catherine has given you excellent advice. Find an accredited CF center and go have testing done. The first line of testing is a non-invasive sweat test. They should only be done at labs affiliated with CF centers. If it comes up positive you will have an answer, but if it comes up negative, don't stop pushing. Get genetic testing. Your daughter's symptoms are too similar to CF to just be pushed away by a well-meaning but mislead pediatrician.

Good luck -- and hang around here for awhile. You will learn a great deal from the amazing members here.

 

[Mommafirst]

I think you are smart to be investigating CF considering those symptoms.

Catherine has given you excellent advice. Find an accredited CF center and go have testing done. The first line of testing is a non-invasive sweat test. They should only be done at labs affiliated with CF centers. If it comes up positive you will have an answer, but if it comes up negative, don't stop pushing. Get genetic testing. Your daughter's symptoms are too similar to CF to just be pushed away by a well-meaning but mislead pediatrician.

Good luck -- and hang around here for awhile. You will learn a great deal from the amazing members here.

 

[Mommafirst]

I think you are smart to be investigating CF considering those symptoms.
<br />
<br />Catherine has given you excellent advice. Find an accredited CF center and go have testing done. The first line of testing is a non-invasive sweat test. They should only be done at labs affiliated with CF centers. If it comes up positive you will have an answer, but if it comes up negative, don't stop pushing. Get genetic testing. Your daughter's symptoms are too similar to CF to just be pushed away by a well-meaning but mislead pediatrician.
<br />
<br />Good luck -- and hang around here for awhile. You will learn a great deal from the amazing members here.

 

[Ratatosk]

IMO, push for additional testing. For piece of mind, to figure out what may be causing your child's issues...

I do believe there are a few people on this site whose children passed the newborn screen and were later found to have CF. carrierae21 -- Carrie's daughter was one I believe.

 

[Ratatosk]

IMO, push for additional testing. For piece of mind, to figure out what may be causing your child's issues...

I do believe there are a few people on this site whose children passed the newborn screen and were later found to have CF. carrierae21 -- Carrie's daughter was one I believe.

 

[Ratatosk]

IMO, push for additional testing. For piece of mind, to figure out what may be causing your child's issues...
<br />
<br />I do believe there are a few people on this site whose children passed the newborn screen and were later found to have CF. carrierae21 -- Carrie's daughter was one I believe.

 

[carrierae21]

My daughter was in fact one... She tested negative for CF in the newborn screen and then later we found out that she does have CF. The screening doesn't test for 2 genes, it only tests the trypsinogen (IRT) level to see if it's elevated or not. If it's not elevated, nothing else is done. If it's moderately elevated they either repeat the IRT level or recommend further genetic testing. If they are just repeating the level, you are more than likely to have the same result and a chance that nothing else be done so your result be called negative. I am not trying to scare you, nor am I trying to tell you that your daughter does in fact have CF, just letting you know that the newborn screening is not a definate and you should trust your instincts for wanting further testing! Good luck and keep us posted!

 

[carrierae21]

My daughter was in fact one... She tested negative for CF in the newborn screen and then later we found out that she does have CF. The screening doesn't test for 2 genes, it only tests the trypsinogen (IRT) level to see if it's elevated or not. If it's not elevated, nothing else is done. If it's moderately elevated they either repeat the IRT level or recommend further genetic testing. If they are just repeating the level, you are more than likely to have the same result and a chance that nothing else be done so your result be called negative. I am not trying to scare you, nor am I trying to tell you that your daughter does in fact have CF, just letting you know that the newborn screening is not a definate and you should trust your instincts for wanting further testing! Good luck and keep us posted!

 

[carrierae21]

My daughter was in fact one... She tested negative for CF in the newborn screen and then later we found out that she does have CF. The screening doesn't test for 2 genes, it only tests the trypsinogen (IRT) level to see if it's elevated or not. If it's not elevated, nothing else is done. If it's moderately elevated they either repeat the IRT level or recommend further genetic testing. If they are just repeating the level, you are more than likely to have the same result and a chance that nothing else be done so your result be called negative. I am not trying to scare you, nor am I trying to tell you that your daughter does in fact have CF, just letting you know that the newborn screening is not a definate and you should trust your instincts for wanting further testing! Good luck and keep us posted!