Sweat Test

[2005CFmom]

My husband works with someone whose daughter is going through CF testing. She has had positive sweat tests (2) on one arm only and the other arm tested negative both times. She does have lung scarring and although she is tall for her age, she is underweight. They did a genetic screening and I don't know if it came back carrier or no mutations found, but did not come back with 2 mutations.

They are having extreme difficulty getting CF diagnosis and care. The medical group they are under has refused to run a complete genetic test and they will not refer her to a CF clinic for evaluation. Unfortunately they are under a different insurance carrier than us, so we can't just tell them to switch to our doctor.

Am I crazy, or shouldn't the 2 positive sweat test results constitute a CF diagnosis. I know one arm tested negative both times, but the results were consistent so I don't think you can chalk it up to lab error.

I remember hearing about someone on this site that tested negative on one arm, but has a confirmed CF diagnosis. How common/uncommon is this?

Any input would be appreciated. I gave them contact info for the CF Legal Hotline hoping they could get advice on what should be in letter to their insurance provider.

Thanks in advance.

 

[2005CFmom]

My husband works with someone whose daughter is going through CF testing. She has had positive sweat tests (2) on one arm only and the other arm tested negative both times. She does have lung scarring and although she is tall for her age, she is underweight. They did a genetic screening and I don't know if it came back carrier or no mutations found, but did not come back with 2 mutations.

They are having extreme difficulty getting CF diagnosis and care. The medical group they are under has refused to run a complete genetic test and they will not refer her to a CF clinic for evaluation. Unfortunately they are under a different insurance carrier than us, so we can't just tell them to switch to our doctor.

Am I crazy, or shouldn't the 2 positive sweat test results constitute a CF diagnosis. I know one arm tested negative both times, but the results were consistent so I don't think you can chalk it up to lab error.

I remember hearing about someone on this site that tested negative on one arm, but has a confirmed CF diagnosis. How common/uncommon is this?

Any input would be appreciated. I gave them contact info for the CF Legal Hotline hoping they could get advice on what should be in letter to their insurance provider.

Thanks in advance.

 

[2005CFmom]

My husband works with someone whose daughter is going through CF testing. She has had positive sweat tests (2) on one arm only and the other arm tested negative both times. She does have lung scarring and although she is tall for her age, she is underweight. They did a genetic screening and I don't know if it came back carrier or no mutations found, but did not come back with 2 mutations.
<br />
<br />They are having extreme difficulty getting CF diagnosis and care. The medical group they are under has refused to run a complete genetic test and they will not refer her to a CF clinic for evaluation. Unfortunately they are under a different insurance carrier than us, so we can't just tell them to switch to our doctor.
<br />
<br />Am I crazy, or shouldn't the 2 positive sweat test results constitute a CF diagnosis. I know one arm tested negative both times, but the results were consistent so I don't think you can chalk it up to lab error.
<br />
<br />I remember hearing about someone on this site that tested negative on one arm, but has a confirmed CF diagnosis. How common/uncommon is this?
<br />
<br />Any input would be appreciated. I gave them contact info for the CF Legal Hotline hoping they could get advice on what should be in letter to their insurance provider.
<br />
<br />Thanks in advance.

 

[Mommafirst]

Jeez, everytime I hear a story like this I get so angry. Why is it that doctors have such a hard time doing what is needed to diagnosis this incredibly serious disease???? Certainly it sounds like your friend's child warrants a referral to a specialist -- lung scarring, positive sweat test, only a basic genetic panel done...yup need someone more specialized. Pediatrician's are NOT well versed enough in the subtleties of this diagnosis to make the final call -- to claim to be able to do so is arrogant and wrong.

I guess the advice I'd give your friend is to tell the doc that she wants a referral to the closes CF center, and if s/he won't give it, the MUST write in her medical files that they denied the referral and why. Usually docs don't like to do this and will then offer the referral. URGH. Good luck.

 

[Mommafirst]

Jeez, everytime I hear a story like this I get so angry. Why is it that doctors have such a hard time doing what is needed to diagnosis this incredibly serious disease???? Certainly it sounds like your friend's child warrants a referral to a specialist -- lung scarring, positive sweat test, only a basic genetic panel done...yup need someone more specialized. Pediatrician's are NOT well versed enough in the subtleties of this diagnosis to make the final call -- to claim to be able to do so is arrogant and wrong.

I guess the advice I'd give your friend is to tell the doc that she wants a referral to the closes CF center, and if s/he won't give it, the MUST write in her medical files that they denied the referral and why. Usually docs don't like to do this and will then offer the referral. URGH. Good luck.

 

[Mommafirst]

Jeez, everytime I hear a story like this I get so angry. Why is it that doctors have such a hard time doing what is needed to diagnosis this incredibly serious disease???? Certainly it sounds like your friend's child warrants a referral to a specialist -- lung scarring, positive sweat test, only a basic genetic panel done...yup need someone more specialized. Pediatrician's are NOT well versed enough in the subtleties of this diagnosis to make the final call -- to claim to be able to do so is arrogant and wrong.
<br />
<br />I guess the advice I'd give your friend is to tell the doc that she wants a referral to the closes CF center, and if s/he won't give it, the MUST write in her medical files that they denied the referral and why. Usually docs don't like to do this and will then offer the referral. URGH. Good luck.

 

[2005CFmom]

I know..it makes my blood boil when I here something like this...especially since my daughter was not diagnosed until she was 8. A regular ped does not have the experience needed to make a CF diagnosis on a complicated case. I guess this post was more of a vent because I can't believe (well yes i can) that cost of care is being considered over the well being of the child.

 

[2005CFmom]

I know..it makes my blood boil when I here something like this...especially since my daughter was not diagnosed until she was 8. A regular ped does not have the experience needed to make a CF diagnosis on a complicated case. I guess this post was more of a vent because I can't believe (well yes i can) that cost of care is being considered over the well being of the child.

 

[2005CFmom]

I know..it makes my blood boil when I here something like this...especially since my daughter was not diagnosed until she was 8. A regular ped does not have the experience needed to make a CF diagnosis on a complicated case. I guess this post was more of a vent because I can't believe (well yes i can) that cost of care is being considered over the well being of the child.

 

[oatmeal28]

I think the best advice is having them call the Hotline. I was just diagnosed last month and I am 29 and I went through a similar battle with my insurance. My first pulmonologist actually did the bloodwork and then failed to tell me that the insurance didn't cover it b/c it's out of state (this was after I waited the full 2 months!) My CF doctor told me the same thing, but she actually spoke to Ambry and pushed for me to get tested and had to get a letter of appeal, but she is the one that fought it saying it was crucial for me as the basic panel had shown I had at least one mutation. I ma going through something similar now with my two nieces. One of my nieces has symptoms (mild but they are there) and their pediatrician is giving them the runaround (not calling them back, etc DESPITE my recent diagnosis)...it makes me so mad. Best of luck with this...I agree it makes me so mad when there is no sense of urgency with this serious disease when it comes to getting to a diagnosis.

 

[oatmeal28]

I think the best advice is having them call the Hotline. I was just diagnosed last month and I am 29 and I went through a similar battle with my insurance. My first pulmonologist actually did the bloodwork and then failed to tell me that the insurance didn't cover it b/c it's out of state (this was after I waited the full 2 months!) My CF doctor told me the same thing, but she actually spoke to Ambry and pushed for me to get tested and had to get a letter of appeal, but she is the one that fought it saying it was crucial for me as the basic panel had shown I had at least one mutation. I ma going through something similar now with my two nieces. One of my nieces has symptoms (mild but they are there) and their pediatrician is giving them the runaround (not calling them back, etc DESPITE my recent diagnosis)...it makes me so mad. Best of luck with this...I agree it makes me so mad when there is no sense of urgency with this serious disease when it comes to getting to a diagnosis.

 

[oatmeal28]

I think the best advice is having them call the Hotline. I was just diagnosed last month and I am 29 and I went through a similar battle with my insurance. My first pulmonologist actually did the bloodwork and then failed to tell me that the insurance didn't cover it b/c it's out of state (this was after I waited the full 2 months!) My CF doctor told me the same thing, but she actually spoke to Ambry and pushed for me to get tested and had to get a letter of appeal, but she is the one that fought it saying it was crucial for me as the basic panel had shown I had at least one mutation. I ma going through something similar now with my two nieces. One of my nieces has symptoms (mild but they are there) and their pediatrician is giving them the runaround (not calling them back, etc DESPITE my recent diagnosis)...it makes me so mad. Best of luck with this...I agree it makes me so mad when there is no sense of urgency with this serious disease when it comes to getting to a diagnosis.