What's up with CF?

[Phil929]

What is going on with CF?
My daughter had the heal test done and tested positive as a carrier. We were also told that because both of us didn't have the CF gene, our child would be free and clear of it. Our daughter went in for two sweat tests which came back scoring 43 on both, just over the limit in the borderline category. We went to the Dr., and the stool and sputum tests came back as normal, and she displays no symptoms of CF, which we think is good, but nobody else seems to think much of, because the sweat test was a little high. Now I read this and am understanding that even if the blood screening test comes back negative she could still be positive because the strain of CF may not have been discovered yet. Does this disease come in many different degrees? The doctor at a CF center, while very nice, won't have ANY answers until the genetic blood screening results come back in 8 weeks. Though we have been told there is a chance our daughter is only a carrier who scored a little high on the sweat test. What are the odds that you score "borderline" on the sweat test, and not have CF?
Sorry if I seem angry, this whole process, is very frustrating.

 

[Phil929]

What is going on with CF?
My daughter had the heal test done and tested positive as a carrier. We were also told that because both of us didn't have the CF gene, our child would be free and clear of it. Our daughter went in for two sweat tests which came back scoring 43 on both, just over the limit in the borderline category. We went to the Dr., and the stool and sputum tests came back as normal, and she displays no symptoms of CF, which we think is good, but nobody else seems to think much of, because the sweat test was a little high. Now I read this and am understanding that even if the blood screening test comes back negative she could still be positive because the strain of CF may not have been discovered yet. Does this disease come in many different degrees? The doctor at a CF center, while very nice, won't have ANY answers until the genetic blood screening results come back in 8 weeks. Though we have been told there is a chance our daughter is only a carrier who scored a little high on the sweat test. What are the odds that you score "borderline" on the sweat test, and not have CF?
Sorry if I seem angry, this whole process, is very frustrating.

 

[Phil929]

What is going on with CF?
My daughter had the heal test done and tested positive as a carrier. We were also told that because both of us didn't have the CF gene, our child would be free and clear of it. Our daughter went in for two sweat tests which came back scoring 43 on both, just over the limit in the borderline category. We went to the Dr., and the stool and sputum tests came back as normal, and she displays no symptoms of CF, which we think is good, but nobody else seems to think much of, because the sweat test was a little high. Now I read this and am understanding that even if the blood screening test comes back negative she could still be positive because the strain of CF may not have been discovered yet. Does this disease come in many different degrees? The doctor at a CF center, while very nice, won't have ANY answers until the genetic blood screening results come back in 8 weeks. Though we have been told there is a chance our daughter is only a carrier who scored a little high on the sweat test. What are the odds that you score "borderline" on the sweat test, and not have CF?
Sorry if I seem angry, this whole process, is very frustrating.

 

[Phil929]

What is going on with CF?
My daughter had the heal test done and tested positive as a carrier. We were also told that because both of us didn't have the CF gene, our child would be free and clear of it. Our daughter went in for two sweat tests which came back scoring 43 on both, just over the limit in the borderline category. We went to the Dr., and the stool and sputum tests came back as normal, and she displays no symptoms of CF, which we think is good, but nobody else seems to think much of, because the sweat test was a little high. Now I read this and am understanding that even if the blood screening test comes back negative she could still be positive because the strain of CF may not have been discovered yet. Does this disease come in many different degrees? The doctor at a CF center, while very nice, won't have ANY answers until the genetic blood screening results come back in 8 weeks. Though we have been told there is a chance our daughter is only a carrier who scored a little high on the sweat test. What are the odds that you score "borderline" on the sweat test, and not have CF?
Sorry if I seem angry, this whole process, is very frustrating.

 

[Phil929]

What is going on with CF?
My daughter had the heal test done and tested positive as a carrier. We were also told that because both of us didn't have the CF gene, our child would be free and clear of it. Our daughter went in for two sweat tests which came back scoring 43 on both, just over the limit in the borderline category. We went to the Dr., and the stool and sputum tests came back as normal, and she displays no symptoms of CF, which we think is good, but nobody else seems to think much of, because the sweat test was a little high. Now I read this and am understanding that even if the blood screening test comes back negative she could still be positive because the strain of CF may not have been discovered yet. Does this disease come in many different degrees? The doctor at a CF center, while very nice, won't have ANY answers until the genetic blood screening results come back in 8 weeks. Though we have been told there is a chance our daughter is only a carrier who scored a little high on the sweat test. What are the odds that you score "borderline" on the sweat test, and not have CF?
Sorry if I seem angry, this whole process, is very frustrating.

 

[Ratatosk]

I'm sure it's frustrating -- the waiting game -- waiting for answers. Hopefully the test results won't take as long as predicted and you'll have answers soon. With us, they didn't have infant screening. Drs suspected CF when our son was born with a bowel obstruction. And we found out within the week via genetic testing that he had CF; however, his mutation is one of the most common in the states, so it was one that was immediately tested for. His sweat test was another story -- 32.

It's my understanding that cfers are born with normal lungs. A lot of times there's a normal birth and no immediate symptoms -- failure to thrive, loose stools, frequent infections (upper respiratory, sinus, ear...)

 

[Ratatosk]

I'm sure it's frustrating -- the waiting game -- waiting for answers. Hopefully the test results won't take as long as predicted and you'll have answers soon. With us, they didn't have infant screening. Drs suspected CF when our son was born with a bowel obstruction. And we found out within the week via genetic testing that he had CF; however, his mutation is one of the most common in the states, so it was one that was immediately tested for. His sweat test was another story -- 32.

It's my understanding that cfers are born with normal lungs. A lot of times there's a normal birth and no immediate symptoms -- failure to thrive, loose stools, frequent infections (upper respiratory, sinus, ear...)

 

[Ratatosk]

I'm sure it's frustrating -- the waiting game -- waiting for answers. Hopefully the test results won't take as long as predicted and you'll have answers soon. With us, they didn't have infant screening. Drs suspected CF when our son was born with a bowel obstruction. And we found out within the week via genetic testing that he had CF; however, his mutation is one of the most common in the states, so it was one that was immediately tested for. His sweat test was another story -- 32.

It's my understanding that cfers are born with normal lungs. A lot of times there's a normal birth and no immediate symptoms -- failure to thrive, loose stools, frequent infections (upper respiratory, sinus, ear...)

 

[Ratatosk]

I'm sure it's frustrating -- the waiting game -- waiting for answers. Hopefully the test results won't take as long as predicted and you'll have answers soon. With us, they didn't have infant screening. Drs suspected CF when our son was born with a bowel obstruction. And we found out within the week via genetic testing that he had CF; however, his mutation is one of the most common in the states, so it was one that was immediately tested for. His sweat test was another story -- 32.

It's my understanding that cfers are born with normal lungs. A lot of times there's a normal birth and no immediate symptoms -- failure to thrive, loose stools, frequent infections (upper respiratory, sinus, ear...)

 

[Ratatosk]

I'm sure it's frustrating -- the waiting game -- waiting for answers. Hopefully the test results won't take as long as predicted and you'll have answers soon. With us, they didn't have infant screening. Drs suspected CF when our son was born with a bowel obstruction. And we found out within the week via genetic testing that he had CF; however, his mutation is one of the most common in the states, so it was one that was immediately tested for. His sweat test was another story -- 32.

It's my understanding that cfers are born with normal lungs. A lot of times there's a normal birth and no immediate symptoms -- failure to thrive, loose stools, frequent infections (upper respiratory, sinus, ear...)

 

[Mommafirst]

I totally understand your frustration searching for answers to a problem you don't even feel exists. The newborn screen more often than not has a false positive because of carrier status. Unfortunately, carrier screening is very limited -- a fact they don't tell most parents to be. A 43 sweat is a good reason to have full genetics done. I know its hard to see, but its wonderful that your docs are being so thorough.There are over 1500 mutations for CF genes, the carrier screen tests for ONE!!! Its one that accounts for over 60% of all CF cases, but still, there are a lot of other possibilites.

I hope you are going through all this for nothing. But if you child does have CF, knowing before any symptoms start is soooo great. You will get the benefit of preventative care that could add years or even decades.

 

[Mommafirst]

I totally understand your frustration searching for answers to a problem you don't even feel exists. The newborn screen more often than not has a false positive because of carrier status. Unfortunately, carrier screening is very limited -- a fact they don't tell most parents to be. A 43 sweat is a good reason to have full genetics done. I know its hard to see, but its wonderful that your docs are being so thorough.There are over 1500 mutations for CF genes, the carrier screen tests for ONE!!! Its one that accounts for over 60% of all CF cases, but still, there are a lot of other possibilites.

I hope you are going through all this for nothing. But if you child does have CF, knowing before any symptoms start is soooo great. You will get the benefit of preventative care that could add years or even decades.

 

[Mommafirst]

I totally understand your frustration searching for answers to a problem you don't even feel exists. The newborn screen more often than not has a false positive because of carrier status. Unfortunately, carrier screening is very limited -- a fact they don't tell most parents to be. A 43 sweat is a good reason to have full genetics done. I know its hard to see, but its wonderful that your docs are being so thorough.There are over 1500 mutations for CF genes, the carrier screen tests for ONE!!! Its one that accounts for over 60% of all CF cases, but still, there are a lot of other possibilites.

I hope you are going through all this for nothing. But if you child does have CF, knowing before any symptoms start is soooo great. You will get the benefit of preventative care that could add years or even decades.

 

[Mommafirst]

I totally understand your frustration searching for answers to a problem you don't even feel exists. The newborn screen more often than not has a false positive because of carrier status. Unfortunately, carrier screening is very limited -- a fact they don't tell most parents to be. A 43 sweat is a good reason to have full genetics done. I know its hard to see, but its wonderful that your docs are being so thorough.There are over 1500 mutations for CF genes, the carrier screen tests for ONE!!! Its one that accounts for over 60% of all CF cases, but still, there are a lot of other possibilites.

I hope you are going through all this for nothing. But if you child does have CF, knowing before any symptoms start is soooo great. You will get the benefit of preventative care that could add years or even decades.

 

[Mommafirst]

I totally understand your frustration searching for answers to a problem you don't even feel exists. The newborn screen more often than not has a false positive because of carrier status. Unfortunately, carrier screening is very limited -- a fact they don't tell most parents to be. A 43 sweat is a good reason to have full genetics done. I know its hard to see, but its wonderful that your docs are being so thorough.There are over 1500 mutations for CF genes, the carrier screen tests for ONE!!! Its one that accounts for over 60% of all CF cases, but still, there are a lot of other possibilites.

I hope you are going through all this for nothing. But if you child does have CF, knowing before any symptoms start is soooo great. You will get the benefit of preventative care that could add years or even decades.

 

[valigirl21]

I completely understand your irritation. I am in a similar situation. I don't know the exact # on my son's sweat test but was told it was in the borderline range. After two genetic screenings the results are negative for CF. I have a follow-up to see what the next step is, but the pulmonologist is sure he has CF. I hope you get the answers you are looking for. And don't feel bad about being angry, it's a common feeling, I think; especially around here. This is a great place.

 

[valigirl21]

I completely understand your irritation. I am in a similar situation. I don't know the exact # on my son's sweat test but was told it was in the borderline range. After two genetic screenings the results are negative for CF. I have a follow-up to see what the next step is, but the pulmonologist is sure he has CF. I hope you get the answers you are looking for. And don't feel bad about being angry, it's a common feeling, I think; especially around here. This is a great place.

 

[valigirl21]

I completely understand your irritation. I am in a similar situation. I don't know the exact # on my son's sweat test but was told it was in the borderline range. After two genetic screenings the results are negative for CF. I have a follow-up to see what the next step is, but the pulmonologist is sure he has CF. I hope you get the answers you are looking for. And don't feel bad about being angry, it's a common feeling, I think; especially around here. This is a great place.

 

[valigirl21]

I completely understand your irritation. I am in a similar situation. I don't know the exact # on my son's sweat test but was told it was in the borderline range. After two genetic screenings the results are negative for CF. I have a follow-up to see what the next step is, but the pulmonologist is sure he has CF. I hope you get the answers you are looking for. And don't feel bad about being angry, it's a common feeling, I think; especially around here. This is a great place.

 

[valigirl21]

I completely understand your irritation. I am in a similar situation. I don't know the exact # on my son's sweat test but was told it was in the borderline range. After two genetic screenings the results are negative for CF. I have a follow-up to see what the next step is, but the pulmonologist is sure he has CF. I hope you get the answers you are looking for. And don't feel bad about being angry, it's a common feeling, I think; especially around here. This is a great place.