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Nasal Potential Difference as Part of CF Dx process
- Thread starter Beccamom
- Start date
Wow. I am a little shocked by this news. I am also curious about how they explained the results. We were told that PCD would mostly be more extreme in presentation but not as serious in prognosis. Does the idea of PCD feel right to you? What a roller coaster ride this can be. I am happy for the thought of it not being CF for you but so sad that you still don't have answers. One day at a time is the only way but I know that isn't easy. Write when you know more or if you need some support...
Wow. I am a little shocked by this news. I am also curious about how they explained the results. We were told that PCD would mostly be more extreme in presentation but not as serious in prognosis. Does the idea of PCD feel right to you? What a roller coaster ride this can be. I am happy for the thought of it not being CF for you but so sad that you still don't have answers. One day at a time is the only way but I know that isn't easy. Write when you know more or if you need some support...
Wow. I am a little shocked by this news. I am also curious about how they explained the results. We were told that PCD would mostly be more extreme in presentation but not as serious in prognosis. Does the idea of PCD feel right to you? What a roller coaster ride this can be. I am happy for the thought of it not being CF for you but so sad that you still don't have answers. One day at a time is the only way but I know that isn't easy. Write when you know more or if you need some support...
I was told that I would receive a letter explaining both the results of the first and second NPD test. The second NPD test showed a more negative baseline of -22, but I was told that -30 to -70 were diagnostic. Also the first NPD showed significantly decreased CFTR function, but the second showed atleast some CFTR function. I know may daughter's CFTR mutation G542X is a stop codon so the most function she can have is 50% since one gene totally doesn't work. I guess that means that she falls in the 10% to 50% CFTR function that is not considered disease causing for CF.
As for the Primary Ciliary Dyskinesia it would make sense for my daugher in that it is also genetic and it definately makes sense for her sister. I E-mailed UNC about that test, although I was told by our current pulmonologist that he could test for PCD through bronchoscopy. At UNC they test through a nasal biopsy and the child is awake. I realize this is probably uncomfortable even painful for a small time, but my daughter had a very difficult time being extabated from anesthesia when she had endoscopy years ago having to be reintubed repeatedly for many hours due to oxygen desaturations. So needless to say, I am very hesitant to do any anesthensia. PCD is so rare I have been having a very difficult time finding information or anyone to talk to about this or chat with. If anyone has researched PCD I am very interested in information.
As for the Primary Ciliary Dyskinesia it would make sense for my daugher in that it is also genetic and it definately makes sense for her sister. I E-mailed UNC about that test, although I was told by our current pulmonologist that he could test for PCD through bronchoscopy. At UNC they test through a nasal biopsy and the child is awake. I realize this is probably uncomfortable even painful for a small time, but my daughter had a very difficult time being extabated from anesthesia when she had endoscopy years ago having to be reintubed repeatedly for many hours due to oxygen desaturations. So needless to say, I am very hesitant to do any anesthensia. PCD is so rare I have been having a very difficult time finding information or anyone to talk to about this or chat with. If anyone has researched PCD I am very interested in information.
I was told that I would receive a letter explaining both the results of the first and second NPD test. The second NPD test showed a more negative baseline of -22, but I was told that -30 to -70 were diagnostic. Also the first NPD showed significantly decreased CFTR function, but the second showed atleast some CFTR function. I know may daughter's CFTR mutation G542X is a stop codon so the most function she can have is 50% since one gene totally doesn't work. I guess that means that she falls in the 10% to 50% CFTR function that is not considered disease causing for CF.
As for the Primary Ciliary Dyskinesia it would make sense for my daugher in that it is also genetic and it definately makes sense for her sister. I E-mailed UNC about that test, although I was told by our current pulmonologist that he could test for PCD through bronchoscopy. At UNC they test through a nasal biopsy and the child is awake. I realize this is probably uncomfortable even painful for a small time, but my daughter had a very difficult time being extabated from anesthesia when she had endoscopy years ago havingto be reintubed repeatedly for many hours due to oxygen desaturations.So needless to say,I am very hesitant to do any anesthensia. PCD is so rare I have been having a very difficult time finding information or anyone to talk to about this or chat with. If anyone has researched PCD I am very interested in information.
As for the Primary Ciliary Dyskinesia it would make sense for my daugher in that it is also genetic and it definately makes sense for her sister. I E-mailed UNC about that test, although I was told by our current pulmonologist that he could test for PCD through bronchoscopy. At UNC they test through a nasal biopsy and the child is awake. I realize this is probably uncomfortable even painful for a small time, but my daughter had a very difficult time being extabated from anesthesia when she had endoscopy years ago havingto be reintubed repeatedly for many hours due to oxygen desaturations.So needless to say,I am very hesitant to do any anesthensia. PCD is so rare I have been having a very difficult time finding information or anyone to talk to about this or chat with. If anyone has researched PCD I am very interested in information.
<p>I was told that I would receive a letter explaining both the results of the first and second NPD test. The second NPD test showed a more negative baseline of -22, but I was told that -30 to -70 were diagnostic. Also the first NPD showed significantly decreased CFTR function, but the second showed atleast some CFTR function. I know may daughter's CFTR mutation G542X is a stop codon so the most function she can have is 50% since one gene totally doesn't work. I guess that means that she falls in the 10% to 50% CFTR function that is not considered disease causing for CF.
<p>As for the Primary Ciliary Dyskinesia it would make sense for my daugher in that it is also genetic and it definately makes sense for her sister. I E-mailed UNC about that test, although I was told by our current pulmonologist that he could test for PCD through bronchoscopy. At UNC they test through a nasal biopsy and the child is awake. I realize this is probably uncomfortable even painful for a small time, but my daughter had a very difficult time being extabated from anesthesia when she had endoscopy years ago havingto be reintubed repeatedly for many hours due to oxygen desaturations.So needless to say,I am very hesitant to do any anesthensia. PCD is so rare I have been having a very difficult time finding information or anyone to talk to about this or chat with. If anyone has researched PCD I am very interested in information.
<p>As for the Primary Ciliary Dyskinesia it would make sense for my daugher in that it is also genetic and it definately makes sense for her sister. I E-mailed UNC about that test, although I was told by our current pulmonologist that he could test for PCD through bronchoscopy. At UNC they test through a nasal biopsy and the child is awake. I realize this is probably uncomfortable even painful for a small time, but my daughter had a very difficult time being extabated from anesthesia when she had endoscopy years ago havingto be reintubed repeatedly for many hours due to oxygen desaturations.So needless to say,I am very hesitant to do any anesthensia. PCD is so rare I have been having a very difficult time finding information or anyone to talk to about this or chat with. If anyone has researched PCD I am very interested in information.
K
Karenmichelle
Guest
My son had a biopsy for PCD. He had it done when he had nasal surgery and also when he had a bronch. UNC is leading in research for PCD. I was very confident with them perfoming the bronch and the biopsy. The procedure itself was very quick and easy. I was able to be with him as he went to sleep. It did come back negative, so we marked that one off our list. There is an official organizational website for PCD that is helpful and also thru the UNC website...they have info. I hope you get some answers. It is hard waiting and not knowing. We are waiting the Ambry genetic test results...he passed his sweat test. When he had the bronch, the pulm said he was "full of pus and mucous" and wanted the genetic testing done. So, now we wait. If you have any questions or I can be of help, please let me know. Blessings to you and yours.
K
Karenmichelle
Guest
My son had a biopsy for PCD. He had it done when he had nasal surgery and also when he had a bronch. UNC is leading in research for PCD. I was very confident with them perfoming the bronch and the biopsy. The procedure itself was very quick and easy. I was able to be with him as he went to sleep. It did come back negative, so we marked that one off our list. There is an official organizationalwebsite for PCD that is helpful and also thru the UNC website...they have info. I hope you get some answers. It is hard waiting and not knowing. We are waiting the Ambry genetic test results...he passed his sweat test. When he had the bronch, the pulm said he was "full of pus and mucous" and wanted the genetic testing done. So, now we wait. If you have any questions or I can be of help, please let me know. Blessings to you and yours.
K
Karenmichelle
Guest
<p>My son had a biopsy for PCD. He had it done when he had nasal surgery and also when he had a bronch. UNC is leading in research for PCD. I was very confident with them perfoming the bronch and the biopsy. The procedure itself was very quick and easy. I was able to be with him as he went to sleep. It did come back negative, so we marked that one off our list. There is an official organizationalwebsite for PCD that is helpful and also thru the UNC website...they have info. I hope you get some answers. It is hard waiting and not knowing. We are waiting the Ambry genetic test results...he passed his sweat test. When he had the bronch, the pulm said he was "full of pus and mucous" and wanted the genetic testing done. So, now we wait. If you have any questions or I can be of help, please let me know. Blessings to you and yours.
I just looked it up, Ambry does the PCD 61 test (they do tons of other genetic testing too besides CF). Do they already have blood from you daughter? Maybe they can use that and do the test quickly. I would look at their website www.ambrygen.com and give them a call. When I have spoken with a genetic counselor, they have always been really helpful. Then your doctor can get it going quickly.
I would love to hear what you find out and how thing are going. Still kind of confused about the NPD and what it all means.
I would love to hear what you find out and how thing are going. Still kind of confused about the NPD and what it all means.
I just looked it up, Ambry does the PCD 61 test (they do tons of other genetic testing too besides CF). Do they already have blood from you daughter? Maybe they can use that and do the test quickly. I would look at their website www.ambrygen.com and give them a call. When I have spoken with a genetic counselor, they have always been really helpful. Then your doctor can get it going quickly.
I would love to hear what you find out and how thing are going. Still kind of confused about the NPD and what it all means.
I would love to hear what you find out and how thing are going. Still kind of confused about the NPD and what it all means.
I just looked it up, Ambry does the PCD 61 test (they do tons of other genetic testing too besides CF). Do they already have blood from you daughter? Maybe they can use that and do the test quickly. I would look at their website www.ambrygen.com and give them a call. When I have spoken with a genetic counselor, they have always been really helpful. Then your doctor can get it going quickly.
<br />I would love to hear what you find out and how thing are going. Still kind of confused about the NPD and what it all means.
<br />I would love to hear what you find out and how thing are going. Still kind of confused about the NPD and what it all means.
Thanks for the genetic info about Ambry. Right now my head is spinning trying to research this whole new diagnostic process. I E-mailed the UNC doctor and I will call tomorrow and just make the first appointment I can get which I expect will be many months away. We are lucky this doctor is actually in-network for our insurance although we live 10 hours away the trip will be worth it.
Thanks for the genetic info about Ambry. Right now my head is spinning trying to research this whole new diagnostic process. I E-mailed the UNC doctor and I will call tomorrow and just make the first appointment I can get which I expect will be many months away. We are lucky this doctor is actually in-network for our insurance although we live 10 hours away the trip will be worth it.
<p>Thanks for the genetic info about Ambry. Right now my head is spinning trying to research this whole new diagnostic process. I E-mailed the UNC doctor and I will call tomorrow and just make the first appointment I can get which I expect will be many months away. We are lucky this doctor is actually in-network for our insurance although we live 10 hours away the trip will be worth it.
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