Need your Input Please

[heatherrose415]

My sons Genetic test came back normal. They only tested for the 32 most common mutations.

The reason they tested is because he has had GI problems since birth and they finally found out he is pancreatic insufficient and is now on enzymes, and his sweat test came back 44. He has never had an infection in his lungs, he has had RSV, but alot of babies get RSV. He has alot of congestion that lasts for a few weeks at a time then clears up for a week or two, then is back. He is 18 months old.
His Dr. (who works at a childrens hospital) said he didnt want to do the full panel because he highly doubts he has CF, and that we will wait 6 months to a year to see if he outgrows his Pancreatic amylase deficiency. He said half of his patients who have had this have outgrown it. So what Im wondering is, do you think I should push to have ALL the mutations tested now, or wait til later???

 

[heatherrose415]

My sons Genetic test came back normal. They only tested for the 32 most common mutations.

The reason they tested is because he has had GI problems since birth and they finally found out he is pancreatic insufficient and is now on enzymes, and his sweat test came back 44. He has never had an infection in his lungs, he has had RSV, but alot of babies get RSV. He has alot of congestion that lasts for a few weeks at a time then clears up for a week or two, then is back. He is 18 months old.
His Dr. (who works at a childrens hospital) said he didnt want to do the full panel because he highly doubts he has CF, and that we will wait 6 months to a year to see if he outgrows his Pancreatic amylase deficiency. He said half of his patients who have had this have outgrown it. So what Im wondering is, do you think I should push to have ALL the mutations tested now, or wait til later???

 

[heatherrose415]

My sons Genetic test came back normal. They only tested for the 32 most common mutations.

The reason they tested is because he has had GI problems since birth and they finally found out he is pancreatic insufficient and is now on enzymes, and his sweat test came back 44. He has never had an infection in his lungs, he has had RSV, but alot of babies get RSV. He has alot of congestion that lasts for a few weeks at a time then clears up for a week or two, then is back. He is 18 months old.
His Dr. (who works at a childrens hospital) said he didnt want to do the full panel because he highly doubts he has CF, and that we will wait 6 months to a year to see if he outgrows his Pancreatic amylase deficiency. He said half of his patients who have had this have outgrown it. So what Im wondering is, do you think I should push to have ALL the mutations tested now, or wait til later???

 

[folione]

I don't want to sound so pessimistic and I certainly hope the doctor is right, but 44 is considered "borderline, inconclusive" for sweat tests. It baffles me why a doctor would not go ahead and order the full-panel genetic test: if insurance will pay for it, what's the doctor got to lose in ordering the test? It's just a tube of blood sent off the Ambry or Quest (Note: Ambry has a place on this website where you can ask them questions). There are plenty of people with CF with even less symptoms than your child - and early identification of CF and starting an appropriate treatment plan is THE key to staying healthy with CF.

 

[folione]

I don't want to sound so pessimistic and I certainly hope the doctor is right, but 44 is considered "borderline, inconclusive" for sweat tests. It baffles me why a doctor would not go ahead and order the full-panel genetic test: if insurance will pay for it, what's the doctor got to lose in ordering the test? It's just a tube of blood sent off the Ambry or Quest (Note: Ambry has a place on this website where you can ask them questions). There are plenty of people with CF with even less symptoms than your child - and early identification of CF and starting an appropriate treatment plan is THE key to staying healthy with CF.

 

[folione]

I don't want to sound so pessimistic and I certainly hope the doctor is right, but 44 is considered "borderline, inconclusive" for sweat tests. It baffles me why a doctor would not go ahead and order the full-panel genetic test: if insurance will pay for it, what's the doctor got to lose in ordering the test? It's just a tube of blood sent off the Ambry or Quest (Note: Ambry has a place on this website where you can ask them questions). There are plenty of people with CF with even less symptoms than your child - and early identification of CF and starting an appropriate treatment plan is THE key to staying healthy with CF.

 

[okok]

Ask your doctor about the ratio of chloride to sodium in your child's sweat. If the ratio is closer to 1:1 then i think you can feel confident in waiting to see if your child outgrows the amylase deficiency. If the chloride to sodium ratio is higher... more like 2:1 then i would ask for the full panel test just for a peace of mind.

 

[okok]

Ask your doctor about the ratio of chloride to sodium in your child's sweat. If the ratio is closer to 1:1 then i think you can feel confident in waiting to see if your child outgrows the amylase deficiency. If the chloride to sodium ratio is higher... more like 2:1 then i would ask for the full panel test just for a peace of mind.

 

[okok]

Ask your doctor about the ratio of chloride to sodium in your child's sweat. If the ratio is closer to 1:1 then i think you can feel confident in waiting to see if your child outgrows the amylase deficiency. If the chloride to sodium ratio is higher... more like 2:1 then i would ask for the full panel test just for a peace of mind.

 

[okok]

Hey

I just double checked my info about the ratio of sodium to chloride and i want to clarify it a bit. Apparently 75% of people who are shown to have abnormal CFTR function using the nasal potential difference test have a chloride to sodium ratio of greater than 1. This means that 25% of people with CF have a chloride to sodium ratio of less than 1.

Also in the same article i read that about 23% of people with sweat chloride values between 30-60mM have two CFTR mutations. Apparently that in itself does not always lead to a CF diagnosis as some CFTR mutations are not necessarily caustive of cf except under certain circumstances. It does usually lead to at least a "pre cf" diagnosis though. I think further genetic testing should ALWAYS be done in childern with sweat chloride of greater than 30.

Anyway i still think you should find out about the chloride/sodium ratio as it might help ease your mind or give you the justification you need to push for more testing.

I want to add that you should definately have the full panal test done at some point.
Sooner would be better but if your doc insists on waiting to see if your child grows out of the amylase def be sure to get the info on that sodium to chloride ratio. If it is >1 be sure to push for the full test immediately. (only 10% of people without CF have a ratio of greater than 1.)
Best of luck! let us know how it goes.

 

[okok]

Hey

I just double checked my info about the ratio of sodium to chloride and i want to clarify it a bit. Apparently 75% of people who are shown to have abnormal CFTR function using the nasal potential difference test have a chloride to sodium ratio of greater than 1. This means that 25% of people with CF have a chloride to sodium ratio of less than 1.

Also in the same article i read that about 23% of people with sweat chloride values between 30-60mM have two CFTR mutations. Apparently that in itself does not always lead to a CF diagnosis as some CFTR mutations are not necessarily caustive of cf except under certain circumstances. It does usually lead to at least a "pre cf" diagnosis though. I think further genetic testing should ALWAYS be done in childern with sweat chloride of greater than 30.

Anyway i still think you should find out about the chloride/sodium ratio as it might help ease your mind or give you the justification you need to push for more testing.

I want to add that you should definately have the full panal test done at some point.
Sooner would be better but if your doc insists on waiting to see if your child grows out of the amylase def be sure to get the info on that sodium to chloride ratio. If it is >1 be sure to push for the full test immediately. (only 10% of people without CF have a ratio of greater than 1.)
Best of luck! let us know how it goes.

 

[okok]

Hey

I just double checked my info about the ratio of sodium to chloride and i want to clarify it a bit. Apparently 75% of people who are shown to have abnormal CFTR function using the nasal potential difference test have a chloride to sodium ratio of greater than 1. This means that 25% of people with CF have a chloride to sodium ratio of less than 1.

Also in the same article i read that about 23% of people with sweat chloride values between 30-60mM have two CFTR mutations. Apparently that in itself does not always lead to a CF diagnosis as some CFTR mutations are not necessarily caustive of cf except under certain circumstances. It does usually lead to at least a "pre cf" diagnosis though. I think further genetic testing should ALWAYS be done in childern with sweat chloride of greater than 30.

Anyway i still think you should find out about the chloride/sodium ratio as it might help ease your mind or give you the justification you need to push for more testing.

I want to add that you should definately have the full panal test done at some point.
Sooner would be better but if your doc insists on waiting to see if your child grows out of the amylase def be sure to get the info on that sodium to chloride ratio. If it is >1 be sure to push for the full test immediately. (only 10% of people without CF have a ratio of greater than 1.)
Best of luck! let us know how it goes.

 

[heatherrose415]

Thank you very much!

what is the nasal potential difference test ?

and the sodium to chloride ratio would have shown on his sweat test??

we will be calling him back this evening, THANKS!

 

[heatherrose415]

Thank you very much!

what is the nasal potential difference test ?

and the sodium to chloride ratio would have shown on his sweat test??

we will be calling him back this evening, THANKS!

 

[heatherrose415]

Thank you very much!

what is the nasal potential difference test ?

and the sodium to chloride ratio would have shown on his sweat test??

we will be calling him back this evening, THANKS!

 

[okok]

Usually when they preform a sweat chloride they also measure sodium. Your doc may have to call the lab to find out the sodium concentration in your child's sweat because they do not generally report it (but they should measure it). If they do not measure sodioum then i might question the results of the sweat test in general.

The nasal potential difference test measures how well the CFTR is functioning. By comparison to a sweat test or blood test it is sort of complicated and not routinely preformed. They hook an electrode to your nose and one to your arm and perfuse your cells with different soloutions. Not everywhere offers the nasal potential difference test and i think your child sounds a little young to sit through it but you could ask your doctor since it is probably cheaper than full panal genetic testing from ambry.

 

[okok]

Usually when they preform a sweat chloride they also measure sodium. Your doc may have to call the lab to find out the sodium concentration in your child's sweat because they do not generally report it (but they should measure it). If they do not measure sodioum then i might question the results of the sweat test in general.

The nasal potential difference test measures how well the CFTR is functioning. By comparison to a sweat test or blood test it is sort of complicated and not routinely preformed. They hook an electrode to your nose and one to your arm and perfuse your cells with different soloutions. Not everywhere offers the nasal potential difference test and i think your child sounds a little young to sit through it but you could ask your doctor since it is probably cheaper than full panal genetic testing from ambry.

 

[okok]

Usually when they preform a sweat chloride they also measure sodium. Your doc may have to call the lab to find out the sodium concentration in your child's sweat because they do not generally report it (but they should measure it). If they do not measure sodioum then i might question the results of the sweat test in general.

The nasal potential difference test measures how well the CFTR is functioning. By comparison to a sweat test or blood test it is sort of complicated and not routinely preformed. They hook an electrode to your nose and one to your arm and perfuse your cells with different soloutions. Not everywhere offers the nasal potential difference test and i think your child sounds a little young to sit through it but you could ask your doctor since it is probably cheaper than full panal genetic testing from ambry.

 

[hockeymomnc]

I am having trouble getting tests done on my kids, my son sounds much like yours with the RSV/bronchitis/croop that turned into" RAD" then Asthma, chronic sinus stuff, etc. he is small as well. I finally got a referral for a genetic counselor to see if I am a CF carrier. if I am, then I will have leverage for testing. I know my husband would have to be a carrier too, but if mine comes back positive, then i am getting my kids tested immediately after. unfortunately here in NC, our special care centers require a referral from peds to do testing(guessing it is like this everywhere). anyway, if I am not a carrier, then my kids can't have CF. i don't know if this helps or if it makes it more complicated.

oh, for those who responded to my posting last week,thanks so much. i called two of the special care centers after your advice but both said they need referrals from peds. however, one of the nurses from Duke called me back and agreed with your opinions as far as why our peds wouldn't schedule any testing. oh well, i will keep you all posted.

 

[hockeymomnc]

I am having trouble getting tests done on my kids, my son sounds much like yours with the RSV/bronchitis/croop that turned into" RAD" then Asthma, chronic sinus stuff, etc. he is small as well. I finally got a referral for a genetic counselor to see if I am a CF carrier. if I am, then I will have leverage for testing. I know my husband would have to be a carrier too, but if mine comes back positive, then i am getting my kids tested immediately after. unfortunately here in NC, our special care centers require a referral from peds to do testing(guessing it is like this everywhere). anyway, if I am not a carrier, then my kids can't have CF. i don't know if this helps or if it makes it more complicated.

oh, for those who responded to my posting last week,thanks so much. i called two of the special care centers after your advice but both said they need referrals from peds. however, one of the nurses from Duke called me back and agreed with your opinions as far as why our peds wouldn't schedule any testing. oh well, i will keep you all posted.