Cf dx w/ "normal" sweat test

[cbcmom]

Pending the outcome of our next pulmo visit, which is within the next week, it looks like we are going to Ambry for tests that we will have to pay for out of pocket. It aggravates me that people have to fight so hard to get testing done. Having a kid sick for so long and no one can tell you what's wrong, yet there are tests availcable that docs just won't order.

I wonder how many people are cf positive and are never diagnosed correctly. Just for curiosity's sake, how many of you have had "normal"(below 40) or borderline sweat tests and still have been found to have a positive cf diagnosis? I'm hearing of more and more people that this seems to be the case with. Interested to hear back. Thanks, T

 

[cbcmom]

Pending the outcome of our next pulmo visit, which is within the next week, it looks like we are going to Ambry for tests that we will have to pay for out of pocket. It aggravates me that people have to fight so hard to get testing done. Having a kid sick for so long and no one can tell you what's wrong, yet there are tests availcable that docs just won't order.

I wonder how many people are cf positive and are never diagnosed correctly. Just for curiosity's sake, how many of you have had "normal"(below 40) or borderline sweat tests and still have been found to have a positive cf diagnosis? I'm hearing of more and more people that this seems to be the case with. Interested to hear back. Thanks, T

 

[cbcmom]

Pending the outcome of our next pulmo visit, which is within the next week, it looks like we are going to Ambry for tests that we will have to pay for out of pocket. It aggravates me that people have to fight so hard to get testing done. Having a kid sick for so long and no one can tell you what's wrong, yet there are tests availcable that docs just won't order.

I wonder how many people are cf positive and are never diagnosed correctly. Just for curiosity's sake, how many of you have had "normal"(below 40) or borderline sweat tests and still have been found to have a positive cf diagnosis? I'm hearing of more and more people that this seems to be the case with. Interested to hear back. Thanks, T

 

[cbcmom]

Pending the outcome of our next pulmo visit, which is within the next week, it looks like we are going to Ambry for tests that we will have to pay for out of pocket. It aggravates me that people have to fight so hard to get testing done. Having a kid sick for so long and no one can tell you what's wrong, yet there are tests availcable that docs just won't order.

I wonder how many people are cf positive and are never diagnosed correctly. Just for curiosity's sake, how many of you have had "normal"(below 40) or borderline sweat tests and still have been found to have a positive cf diagnosis? I'm hearing of more and more people that this seems to be the case with. Interested to hear back. Thanks, T

 

[cbcmom]

Pending the outcome of our next pulmo visit, which is within the next week, it looks like we are going to Ambry for tests that we will have to pay for out of pocket. It aggravates me that people have to fight so hard to get testing done. Having a kid sick for so long and no one can tell you what's wrong, yet there are tests availcable that docs just won't order.

I wonder how many people are cf positive and are never diagnosed correctly. Just for curiosity's sake, how many of you have had "normal"(below 40) or borderline sweat tests and still have been found to have a positive cf diagnosis? I'm hearing of more and more people that this seems to be the case with. Interested to hear back. Thanks, T

 

[spacemom]

Cf dx w/ "normal

Hi T,
My son has 2 sweat tests and both were borderline (both 50).
The genetic test came negative for the +/- 100 most common mutations in our country (Portugal). These +/- 100 cover 99% of the mutations affecting our population. So either my son has no mutation at all or it's a very rare mutation here. Instead of sending for an ambry test which would be much more expensive, the doctors recently chose a method of diagnosis that is being more used in Europe, the rectal biopsy. With this method they actually see the chlorides moving in and out of the cells. This test was positive for CF.
HTh, good luck, much love

 

[spacemom]

Cf dx w/ "normal

Hi T,
My son has 2 sweat tests and both were borderline (both 50).
The genetic test came negative for the +/- 100 most common mutations in our country (Portugal). These +/- 100 cover 99% of the mutations affecting our population. So either my son has no mutation at all or it's a very rare mutation here. Instead of sending for an ambry test which would be much more expensive, the doctors recently chose a method of diagnosis that is being more used in Europe, the rectal biopsy. With this method they actually see the chlorides moving in and out of the cells. This test was positive for CF.
HTh, good luck, much love

 

[spacemom]

Cf dx w/ "normal

Hi T,
My son has 2 sweat tests and both were borderline (both 50).
The genetic test came negative for the +/- 100 most common mutations in our country (Portugal). These +/- 100 cover 99% of the mutations affecting our population. So either my son has no mutation at all or it's a very rare mutation here. Instead of sending for an ambry test which would be much more expensive, the doctors recently chose a method of diagnosis that is being more used in Europe, the rectal biopsy. With this method they actually see the chlorides moving in and out of the cells. This test was positive for CF.
HTh, good luck, much love

 

[spacemom]

Cf dx w/ "normal

Hi T,
My son has 2 sweat tests and both were borderline (both 50).
The genetic test came negative for the +/- 100 most common mutations in our country (Portugal). These +/- 100 cover 99% of the mutations affecting our population. So either my son has no mutation at all or it's a very rare mutation here. Instead of sending for an ambry test which would be much more expensive, the doctors recently chose a method of diagnosis that is being more used in Europe, the rectal biopsy. With this method they actually see the chlorides moving in and out of the cells. This test was positive for CF.
HTh, good luck, much love

 

[spacemom]

Cf dx w/ "normal

Hi T,
My son has 2 sweat tests and both were borderline (both 50).
The genetic test came negative for the +/- 100 most common mutations in our country (Portugal). These +/- 100 cover 99% of the mutations affecting our population. So either my son has no mutation at all or it's a very rare mutation here. Instead of sending for an ambry test which would be much more expensive, the doctors recently chose a method of diagnosis that is being more used in Europe, the rectal biopsy. With this method they actually see the chlorides moving in and out of the cells. This test was positive for CF.
HTh, good luck, much love

 

[larasmommy]

Cf dx w/ "normal

My daughters sweat was borderline, 49. Her Dr. orderered genetic testing with Quest which I recently found out WAS sent to Ambry,(they have some kind of deal or something) and they found 2 mutations, she is considered ATypical,which means its only effecting her lungs so far. But the insurance co paid for the whole thing. Maybe you can speak with Steve the Ambry guy, he might be able to help you. Good Luck, I wish you the best.

 

[larasmommy]

Cf dx w/ "normal

My daughters sweat was borderline, 49. Her Dr. orderered genetic testing with Quest which I recently found out WAS sent to Ambry,(they have some kind of deal or something) and they found 2 mutations, she is considered ATypical,which means its only effecting her lungs so far. But the insurance co paid for the whole thing. Maybe you can speak with Steve the Ambry guy, he might be able to help you. Good Luck, I wish you the best.

 

[larasmommy]

Cf dx w/ "normal

My daughters sweat was borderline, 49. Her Dr. orderered genetic testing with Quest which I recently found out WAS sent to Ambry,(they have some kind of deal or something) and they found 2 mutations, she is considered ATypical,which means its only effecting her lungs so far. But the insurance co paid for the whole thing. Maybe you can speak with Steve the Ambry guy, he might be able to help you. Good Luck, I wish you the best.

 

[larasmommy]

Cf dx w/ "normal

My daughters sweat was borderline, 49. Her Dr. orderered genetic testing with Quest which I recently found out WAS sent to Ambry,(they have some kind of deal or something) and they found 2 mutations, she is considered ATypical,which means its only effecting her lungs so far. But the insurance co paid for the whole thing. Maybe you can speak with Steve the Ambry guy, he might be able to help you. Good Luck, I wish you the best.

 

[larasmommy]

Cf dx w/ "normal

My daughters sweat was borderline, 49. Her Dr. orderered genetic testing with Quest which I recently found out WAS sent to Ambry,(they have some kind of deal or something) and they found 2 mutations, she is considered ATypical,which means its only effecting her lungs so far. But the insurance co paid for the whole thing. Maybe you can speak with Steve the Ambry guy, he might be able to help you. Good Luck, I wish you the best.

 

[Ratatosk]

Cf dx w/ "normal

DS had his sweat test done at an accreditted CF Facility and it was a normal 32; however, the neonatologist at our local hospital had already ordered a genetic blood test prior to his being transferred to the Children's Hospital. So we got the blood test results back the same time we got the sweat test results.

 

[Ratatosk]

Cf dx w/ "normal

DS had his sweat test done at an accreditted CF Facility and it was a normal 32; however, the neonatologist at our local hospital had already ordered a genetic blood test prior to his being transferred to the Children's Hospital. So we got the blood test results back the same time we got the sweat test results.

 

[Ratatosk]

Cf dx w/ "normal

DS had his sweat test done at an accreditted CF Facility and it was a normal 32; however, the neonatologist at our local hospital had already ordered a genetic blood test prior to his being transferred to the Children's Hospital. So we got the blood test results back the same time we got the sweat test results.

 

[Ratatosk]

Cf dx w/ "normal

DS had his sweat test done at an accreditted CF Facility and it was a normal 32; however, the neonatologist at our local hospital had already ordered a genetic blood test prior to his being transferred to the Children's Hospital. So we got the blood test results back the same time we got the sweat test results.

 

[Ratatosk]

Cf dx w/ "normal

DS had his sweat test done at an accreditted CF Facility and it was a normal 32; however, the neonatologist at our local hospital had already ordered a genetic blood test prior to his being transferred to the Children's Hospital. So we got the blood test results back the same time we got the sweat test results.