Arrg!

hhildema

New member
So, as I've posted in some other areas on this site already, we decided to pursue CF testing for our 3-year old daughter this month due to family history, never-ending respiratory "infections", salty skin and digestive issues. Despite the signs and symptoms, her pediatrician acted like I'm just an overly-worried parent and that he would be "very surprised" if the test came back positive. I really don't think she has it either because she was screened as a newborn and everthing was normal and yet she has these symptoms that aren't going away and if anything seem to be getting worse. Anyway, I just had to vent, because wouldn't you think a pediatrician would want to figure out what's going on and with her symtoms wouldn't CF be one of the first things that came to mind?!! Well, crazy parent or not, I'm relieved the test has been ordered and that we'll know (at least about whether she has CF) before the end of the year.
 

hhildema

New member
So, as I've posted in some other areas on this site already, we decided to pursue CF testing for our 3-year old daughter this month due to family history, never-ending respiratory "infections", salty skin and digestive issues. Despite the signs and symptoms, her pediatrician acted like I'm just an overly-worried parent and that he would be "very surprised" if the test came back positive. I really don't think she has it either because she was screened as a newborn and everthing was normal and yet she has these symptoms that aren't going away and if anything seem to be getting worse. Anyway, I just had to vent, because wouldn't you think a pediatrician would want to figure out what's going on and with her symtoms wouldn't CF be one of the first things that came to mind?!! Well, crazy parent or not, I'm relieved the test has been ordered and that we'll know (at least about whether she has CF) before the end of the year.
 

hhildema

New member
So, as I've posted in some other areas on this site already, we decided to pursue CF testing for our 3-year old daughter this month due to family history, never-ending respiratory "infections", salty skin and digestive issues. Despite the signs and symptoms, her pediatrician acted like I'm just an overly-worried parent and that he would be "very surprised" if the test came back positive. I really don't think she has it either because she was screened as a newborn and everthing was normal and yet she has these symptoms that aren't going away and if anything seem to be getting worse. Anyway, I just had to vent, because wouldn't you think a pediatrician would want to figure out what's going on and with her symtoms wouldn't CF be one of the first things that came to mind?!! Well, crazy parent or not, I'm relieved the test has been ordered and that we'll know (at least about whether she has CF) before the end of the year.
 

julie

New member
You are doing the right thing by advocating for your child. You are for sure NOT the only parent who has dealt with (what sounds like) an ignorant pediatrician. There is no reason why you shouldn't test considering what you've mentioned.

out of curiosity, is she having a sweat test or a genetic test? And if she's having a genetic test, do you know through which company?

Keep us posted on the results,
 

julie

New member
You are doing the right thing by advocating for your child. You are for sure NOT the only parent who has dealt with (what sounds like) an ignorant pediatrician. There is no reason why you shouldn't test considering what you've mentioned.

out of curiosity, is she having a sweat test or a genetic test? And if she's having a genetic test, do you know through which company?

Keep us posted on the results,
 

julie

New member
You are doing the right thing by advocating for your child. You are for sure NOT the only parent who has dealt with (what sounds like) an ignorant pediatrician. There is no reason why you shouldn't test considering what you've mentioned.

out of curiosity, is she having a sweat test or a genetic test? And if she's having a genetic test, do you know through which company?

Keep us posted on the results,
 
M

Mommafirst

Guest
Lots of pediatricians don't really know as much about CF as one would think they should. Our pediatrician kept saying she didn't think my daughter could possibly have CF saying, "She looks too healthy". It is frustrating!!! I hope you get some answers!!
 
M

Mommafirst

Guest
Lots of pediatricians don't really know as much about CF as one would think they should. Our pediatrician kept saying she didn't think my daughter could possibly have CF saying, "She looks too healthy". It is frustrating!!! I hope you get some answers!!
 
M

Mommafirst

Guest
Lots of pediatricians don't really know as much about CF as one would think they should. Our pediatrician kept saying she didn't think my daughter could possibly have CF saying, "She looks too healthy". It is frustrating!!! I hope you get some answers!!
 

JazzysMom

New member
As a pediatrician they should always consider it. This is why I am such an advocate of newborn & prenatal screening. Many carriers dont know they are carriers until a child is born with CF>>>>>AARRRRGG I feel your frustration. Keep fighting for your child!
 

JazzysMom

New member
As a pediatrician they should always consider it. This is why I am such an advocate of newborn & prenatal screening. Many carriers dont know they are carriers until a child is born with CF>>>>>AARRRRGG I feel your frustration. Keep fighting for your child!
 

JazzysMom

New member
As a pediatrician they should always consider it. This is why I am such an advocate of newborn & prenatal screening. Many carriers dont know they are carriers until a child is born with CF>>>>>AARRRRGG I feel your frustration. Keep fighting for your child!
 

NoExcuses

New member
Despite what many people on this planet think.... doctors aren't always right. they're wrong all the time.

so good for you. i wish more parents were like you.
 

NoExcuses

New member
Despite what many people on this planet think.... doctors aren't always right. they're wrong all the time.

so good for you. i wish more parents were like you.
 

NoExcuses

New member
Despite what many people on this planet think.... doctors aren't always right. they're wrong all the time.

so good for you. i wish more parents were like you.
 

hhildema

New member
We decided to not proceed w/ genetic testing until the sweat test results come back. We understand there's no such thing as a false-positive sweat test so we wouldn't need to do genetic testing if the sweat test is positive. What we're really hoping for is a negative sweat test, at which time we'd request genetic testing b/c from what I understand there can be false-negative sweat tests and I'm the type of person who needs to know for sure. It would also be nice to know whether she's carrier (if she doesn't have CF) since it's likely I'm a carrier. With this scare we'd also like my husband to get tested but need to check into how much it costs, which company is the most reliable, whether our insurance will cover it, etc. Any helpful hints, recommendations, etc would be appreciated. Thanks!
 

hhildema

New member
We decided to not proceed w/ genetic testing until the sweat test results come back. We understand there's no such thing as a false-positive sweat test so we wouldn't need to do genetic testing if the sweat test is positive. What we're really hoping for is a negative sweat test, at which time we'd request genetic testing b/c from what I understand there can be false-negative sweat tests and I'm the type of person who needs to know for sure. It would also be nice to know whether she's carrier (if she doesn't have CF) since it's likely I'm a carrier. With this scare we'd also like my husband to get tested but need to check into how much it costs, which company is the most reliable, whether our insurance will cover it, etc. Any helpful hints, recommendations, etc would be appreciated. Thanks!
 

hhildema

New member
We decided to not proceed w/ genetic testing until the sweat test results come back. We understand there's no such thing as a false-positive sweat test so we wouldn't need to do genetic testing if the sweat test is positive. What we're really hoping for is a negative sweat test, at which time we'd request genetic testing b/c from what I understand there can be false-negative sweat tests and I'm the type of person who needs to know for sure. It would also be nice to know whether she's carrier (if she doesn't have CF) since it's likely I'm a carrier. With this scare we'd also like my husband to get tested but need to check into how much it costs, which company is the most reliable, whether our insurance will cover it, etc. Any helpful hints, recommendations, etc would be appreciated. Thanks!
 

Imogene

Administrator
We have a genetic counselor at our site...ready to help.

StevenKeiles in the Ambry Genetics thread...I know he'll give you knowledgeable answers as you proceed.

Jeanne
 

Imogene

Administrator
We have a genetic counselor at our site...ready to help.

StevenKeiles in the Ambry Genetics thread...I know he'll give you knowledgeable answers as you proceed.

Jeanne
 
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