need to know questions to ask

flwrchldkb

New member
My daughter was born on 10/30/10. We found out yesterday that they are sending her for a sweat test on Dec 7th. I am calling her dr Monday to ask some questions and need to know what all I need to ask other about than her levels?
 

flwrchldkb

New member
My daughter was born on 10/30/10. We found out yesterday that they are sending her for a sweat test on Dec 7th. I am calling her dr Monday to ask some questions and need to know what all I need to ask other about than her levels?
 

flwrchldkb

New member
My daughter was born on 10/30/10. We found out yesterday that they are sending her for a sweat test on Dec 7th. I am calling her dr Monday to ask some questions and need to know what all I need to ask other about than her levels?
 
M

Mommafirst

Guest
There isn't much to ask this early in the game. It would be good to determine if they discovered a CF gene mutation or just got a positive IRT score. I don't think the levels will tell you much. I believe 9 out of 10 babies with a positive newborn screen are determined to NOT have CF. I hope that this is the case for you and your daughter.
 
M

Mommafirst

Guest
There isn't much to ask this early in the game. It would be good to determine if they discovered a CF gene mutation or just got a positive IRT score. I don't think the levels will tell you much. I believe 9 out of 10 babies with a positive newborn screen are determined to NOT have CF. I hope that this is the case for you and your daughter.
 
M

Mommafirst

Guest
There isn't much to ask this early in the game. It would be good to determine if they discovered a CF gene mutation or just got a positive IRT score. I don't think the levels will tell you much. I believe 9 out of 10 babies with a positive newborn screen are determined to NOT have CF. I hope that this is the case for you and your daughter.
 

hmw

New member
It appears that your state does a genetic test for the most common mutations responsible for causing CF if the IRT levels are elevated. This is a much more thorough newborn screen than most states perform (most states only test for elevated IRT levels and as Heather posted, the vast majority of these babies don't have CF.) A question to ask of the pediatrician would be the specific results of the genetic testing performed- how many mutations were discovered. Two mutations from one of these panels would confirm a dx of CF, one means the baby is at least a carrier (more thorough genetic testing is available to test for additional mutations if warranted), or if no mutations were found and they are doing the sweat test based on IRT alone.

Wishing the very best and that your child does NOT have CF and is at most just a carrier. A 'screen' is just that- a screen- and flags more babies than those that actually have the disease. However, in those states that actually include genetic testing, the NBS will narrow down more babies w/CF than those that simply go by IRT results alone.
 

hmw

New member
It appears that your state does a genetic test for the most common mutations responsible for causing CF if the IRT levels are elevated. This is a much more thorough newborn screen than most states perform (most states only test for elevated IRT levels and as Heather posted, the vast majority of these babies don't have CF.) A question to ask of the pediatrician would be the specific results of the genetic testing performed- how many mutations were discovered. Two mutations from one of these panels would confirm a dx of CF, one means the baby is at least a carrier (more thorough genetic testing is available to test for additional mutations if warranted), or if no mutations were found and they are doing the sweat test based on IRT alone.

Wishing the very best and that your child does NOT have CF and is at most just a carrier. A 'screen' is just that- a screen- and flags more babies than those that actually have the disease. However, in those states that actually include genetic testing, the NBS will narrow down more babies w/CF than those that simply go by IRT results alone.
 

hmw

New member
It appears that your state does a genetic test for the most common mutations responsible for causing CF if the IRT levels are elevated. This is a much more thorough newborn screen than most states perform (most states only test for elevated IRT levels and as Heather posted, the vast majority of these babies don't have CF.) A question to ask of the pediatrician would be the specific results of the genetic testing performed- how many mutations were discovered. Two mutations from one of these panels would confirm a dx of CF, one means the baby is at least a carrier (more thorough genetic testing is available to test for additional mutations if warranted), or if no mutations were found and they are doing the sweat test based on IRT alone.
<br />
<br />Wishing the very best and that your child does NOT have CF and is at most just a carrier. A 'screen' is just that- a screen- and flags more babies than those that actually have the disease. However, in those states that actually include genetic testing, the NBS will narrow down more babies w/CF than those that simply go by IRT results alone.
 

flwrchldkb

New member
The dr said that her screen came back with one mutation. SO I guess we will find out the 7th if she has it or if she is a carrier.
 

flwrchldkb

New member
The dr said that her screen came back with one mutation. SO I guess we will find out the 7th if she has it or if she is a carrier.
 

flwrchldkb

New member
The dr said that her screen came back with one mutation. SO I guess we will find out the 7th if she has it or if she is a carrier.
 
M

Mommafirst

Guest
Good luck on the sweat test. Make sure to get the sweat test number, not just to accept negative or positive. If the number is questionnable, you should insist of larger genetic testing to be assured that there is no second mutation hanging out there in the 1500+ possibilities.
 
M

Mommafirst

Guest
Good luck on the sweat test. Make sure to get the sweat test number, not just to accept negative or positive. If the number is questionnable, you should insist of larger genetic testing to be assured that there is no second mutation hanging out there in the 1500+ possibilities.
 
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