abnormal CF and nasal potential testing

[bmombtoo]

This is also posted under family:

My son Joshua has atypical CF diagnosed in Sept. of '06. He was diagnosed by nasal differential potential testing at age 12. I finally, after two years of waiting, got a NPD test today. I have many of the same symptoms as Josh......chronic sinus problems, chest congestion, cough if you pat my back. The doctor doing the test indicated that he thought I did not have CF (the NPD number was -11, should be -42 or lower). However, he said I might have some sort of problem with the cilia in the respiratory tract, primary cilia dyplexia (?). He suggested that I should be using a vest or acapella and medications that you use for CF. I had this done at the research lab at Hopkins. He will send a report to my son's CF doctor, my allergist, and my internist.

I'm a little confused......is this kind of like being a symptomatic carrier? We talked about Josh and he said he may have started his own variant at conception. They cannot identify his mutation. But if he has CF than he has to have two carrier parents right?

Help me understand all this????????

I'll also post this in the Ambry link.

Dolline

 

[bmombtoo]

This is also posted under family:

My son Joshua has atypical CF diagnosed in Sept. of '06. He was diagnosed by nasal differential potential testing at age 12. I finally, after two years of waiting, got a NPD test today. I have many of the same symptoms as Josh......chronic sinus problems, chest congestion, cough if you pat my back. The doctor doing the test indicated that he thought I did not have CF (the NPD number was -11, should be -42 or lower). However, he said I might have some sort of problem with the cilia in the respiratory tract, primary cilia dyplexia (?). He suggested that I should be using a vest or acapella and medications that you use for CF. I had this done at the research lab at Hopkins. He will send a report to my son's CF doctor, my allergist, and my internist.

I'm a little confused......is this kind of like being a symptomatic carrier? We talked about Josh and he said he may have started his own variant at conception. They cannot identify his mutation. But if he has CF than he has to have two carrier parents right?

Help me understand all this????????

I'll also post this in the Ambry link.

Dolline

 

[bmombtoo]

This is also posted under family:

My son Joshua has atypical CF diagnosed in Sept. of '06. He was diagnosed by nasal differential potential testing at age 12. I finally, after two years of waiting, got a NPD test today. I have many of the same symptoms as Josh......chronic sinus problems, chest congestion, cough if you pat my back. The doctor doing the test indicated that he thought I did not have CF (the NPD number was -11, should be -42 or lower). However, he said I might have some sort of problem with the cilia in the respiratory tract, primary cilia dyplexia (?). He suggested that I should be using a vest or acapella and medications that you use for CF. I had this done at the research lab at Hopkins. He will send a report to my son's CF doctor, my allergist, and my internist.

I'm a little confused......is this kind of like being a symptomatic carrier? We talked about Josh and he said he may have started his own variant at conception. They cannot identify his mutation. But if he has CF than he has to have two carrier parents right?

Help me understand all this????????

I'll also post this in the Ambry link.

Dolline

 

[bmombtoo]

This is also posted under family:

My son Joshua has atypical CF diagnosed in Sept. of '06. He was diagnosed by nasal differential potential testing at age 12. I finally, after two years of waiting, got a NPD test today. I have many of the same symptoms as Josh......chronic sinus problems, chest congestion, cough if you pat my back. The doctor doing the test indicated that he thought I did not have CF (the NPD number was -11, should be -42 or lower). However, he said I might have some sort of problem with the cilia in the respiratory tract, primary cilia dyplexia (?). He suggested that I should be using a vest or acapella and medications that you use for CF. I had this done at the research lab at Hopkins. He will send a report to my son's CF doctor, my allergist, and my internist.

I'm a little confused......is this kind of like being a symptomatic carrier? We talked about Josh and he said he may have started his own variant at conception. They cannot identify his mutation. But if he has CF than he has to have two carrier parents right?

Help me understand all this????????

I'll also post this in the Ambry link.

Dolline

 

[bmombtoo]

This is also posted under family:

My son Joshua has atypical CF diagnosed in Sept. of '06. He was diagnosed by nasal differential potential testing at age 12. I finally, after two years of waiting, got a NPD test today. I have many of the same symptoms as Josh......chronic sinus problems, chest congestion, cough if you pat my back. The doctor doing the test indicated that he thought I did not have CF (the NPD number was -11, should be -42 or lower). However, he said I might have some sort of problem with the cilia in the respiratory tract, primary cilia dyplexia (?). He suggested that I should be using a vest or acapella and medications that you use for CF. I had this done at the research lab at Hopkins. He will send a report to my son's CF doctor, my allergist, and my internist.

I'm a little confused......is this kind of like being a symptomatic carrier? We talked about Josh and he said he may have started his own variant at conception. They cannot identify his mutation. But if he has CF than he has to have two carrier parents right?

Help me understand all this????????

I'll also post this in the Ambry link.

Dolline

 

[2005CFmom]

My husband is in a similar position as you. His ambry test show only one mutation, his sweat test was 18...but he shows many symptoms of CF. He has been diagnosed with bronchiectasis (CF is the most common cause of bronchiectasis) and they can't say why he developed it.

He is on the same basic routine as my daughter (no enzymes though). He is even on pulmozyme which some studies show is only effective on bronchiectasis caused by CF. But his lung function was dropping and it was the only med left to try so he started it. His PFT's have stopped dropping and have gotten better since being on pulmozyme. I should say that he has excellent PFTs, started above 100% and dropped to around 80% in a couple years. I think they are back up to the mid 90's now.

He sees a regular pulmonologist for most of his care, but has seen a CF doctor a couple times when his pft's were dropping (not at CF clinic though, just as a "regular" patient).

They seem to think that the carrier status may have something to do with it. One of the doctors even mentioned that CF carriers do have reduced CFTR function, but not reduced enough to cause disease. But the reduced function, along with some other unknown element may combine to produce CF symptoms (not his wording, just how I understood it).

Anyway, best of luck to you. I know how frustrating getting help can be.

 

[2005CFmom]

My husband is in a similar position as you. His ambry test show only one mutation, his sweat test was 18...but he shows many symptoms of CF. He has been diagnosed with bronchiectasis (CF is the most common cause of bronchiectasis) and they can't say why he developed it.

He is on the same basic routine as my daughter (no enzymes though). He is even on pulmozyme which some studies show is only effective on bronchiectasis caused by CF. But his lung function was dropping and it was the only med left to try so he started it. His PFT's have stopped dropping and have gotten better since being on pulmozyme. I should say that he has excellent PFTs, started above 100% and dropped to around 80% in a couple years. I think they are back up to the mid 90's now.

He sees a regular pulmonologist for most of his care, but has seen a CF doctor a couple times when his pft's were dropping (not at CF clinic though, just as a "regular" patient).

They seem to think that the carrier status may have something to do with it. One of the doctors even mentioned that CF carriers do have reduced CFTR function, but not reduced enough to cause disease. But the reduced function, along with some other unknown element may combine to produce CF symptoms (not his wording, just how I understood it).

Anyway, best of luck to you. I know how frustrating getting help can be.

 

[2005CFmom]

My husband is in a similar position as you. His ambry test show only one mutation, his sweat test was 18...but he shows many symptoms of CF. He has been diagnosed with bronchiectasis (CF is the most common cause of bronchiectasis) and they can't say why he developed it.

He is on the same basic routine as my daughter (no enzymes though). He is even on pulmozyme which some studies show is only effective on bronchiectasis caused by CF. But his lung function was dropping and it was the only med left to try so he started it. His PFT's have stopped dropping and have gotten better since being on pulmozyme. I should say that he has excellent PFTs, started above 100% and dropped to around 80% in a couple years. I think they are back up to the mid 90's now.

He sees a regular pulmonologist for most of his care, but has seen a CF doctor a couple times when his pft's were dropping (not at CF clinic though, just as a "regular" patient).

They seem to think that the carrier status may have something to do with it. One of the doctors even mentioned that CF carriers do have reduced CFTR function, but not reduced enough to cause disease. But the reduced function, along with some other unknown element may combine to produce CF symptoms (not his wording, just how I understood it).

Anyway, best of luck to you. I know how frustrating getting help can be.

 

[2005CFmom]

My husband is in a similar position as you. His ambry test show only one mutation, his sweat test was 18...but he shows many symptoms of CF. He has been diagnosed with bronchiectasis (CF is the most common cause of bronchiectasis) and they can't say why he developed it.

He is on the same basic routine as my daughter (no enzymes though). He is even on pulmozyme which some studies show is only effective on bronchiectasis caused by CF. But his lung function was dropping and it was the only med left to try so he started it. His PFT's have stopped dropping and have gotten better since being on pulmozyme. I should say that he has excellent PFTs, started above 100% and dropped to around 80% in a couple years. I think they are back up to the mid 90's now.

He sees a regular pulmonologist for most of his care, but has seen a CF doctor a couple times when his pft's were dropping (not at CF clinic though, just as a "regular" patient).

They seem to think that the carrier status may have something to do with it. One of the doctors even mentioned that CF carriers do have reduced CFTR function, but not reduced enough to cause disease. But the reduced function, along with some other unknown element may combine to produce CF symptoms (not his wording, just how I understood it).

Anyway, best of luck to you. I know how frustrating getting help can be.

 

[2005CFmom]

My husband is in a similar position as you. His ambry test show only one mutation, his sweat test was 18...but he shows many symptoms of CF. He has been diagnosed with bronchiectasis (CF is the most common cause of bronchiectasis) and they can't say why he developed it.
<br />
<br />He is on the same basic routine as my daughter (no enzymes though). He is even on pulmozyme which some studies show is only effective on bronchiectasis caused by CF. But his lung function was dropping and it was the only med left to try so he started it. His PFT's have stopped dropping and have gotten better since being on pulmozyme. I should say that he has excellent PFTs, started above 100% and dropped to around 80% in a couple years. I think they are back up to the mid 90's now.
<br />
<br />He sees a regular pulmonologist for most of his care, but has seen a CF doctor a couple times when his pft's were dropping (not at CF clinic though, just as a "regular" patient).
<br />
<br />They seem to think that the carrier status may have something to do with it. One of the doctors even mentioned that CF carriers do have reduced CFTR function, but not reduced enough to cause disease. But the reduced function, along with some other unknown element may combine to produce CF symptoms (not his wording, just how I understood it).
<br />
<br />Anyway, best of luck to you. I know how frustrating getting help can be.
<br />

 

[bmombtoo]

Thanks Teri. There is strength in numbers.......you don't feel so weird or alone.

Dolline

 

[bmombtoo]

Thanks Teri. There is strength in numbers.......you don't feel so weird or alone.

Dolline

 

[bmombtoo]

Thanks Teri. There is strength in numbers.......you don't feel so weird or alone.

Dolline

 

[bmombtoo]

Thanks Teri. There is strength in numbers.......you don't feel so weird or alone.

Dolline

 

[bmombtoo]

Thanks Teri. There is strength in numbers.......you don't feel so weird or alone.

Dolline