abnormal CF and nasal potential testing

bmombtoo · Dec 30, 2008

Hey Group!

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 · Dec 30, 2008

Hey Group!

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 · Dec 30, 2008

Hey Group!

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 · Dec 30, 2008

Hey Group!

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 · Dec 30, 2008

Hey Group!

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

valigirl21 · Jan 7, 2009