Nasal Potential Difference as Part of CF Dx process

[mom2owen]

I wish you so much luck JennifersHope. I really feel for you and it also scares me like it is a view into the future of Owen since he doesn't have a diagnosis either. I did want to add that as parents, we always want the best for our kids so while it feels like you parents are upset with you, I might be overstepping my boundaries here, but I would equate it to being upset that you have to live like this. There is nothing harder than seeing your child, always your baby, suffering and I am sure they just want answers for you so you can get the right kind of help and live the best life possible.
<br />Oh, and I also wanted to add that I know how you feel about being bold with doctors. It is so tough because we need them to get through this but they are so often the big hinderance in getting help. And what is with the tight-knot group with CF docs especially? They will NOT contradict what any other doctor says about a diagnosis. Even in the same clinic, we had one doctor tell us Owen's sinuses were fine in the CT so he can't have CF but then his partner said his sinuses are a mess and totally swollen and "fragile" which is why he gets nose bleeds and mouth breathes. But, he added that it is not "bad enough" to be CF. When I asked about the first doctor he seemed very uncomfortable contradicting him but the evidence has always been there of sinus junk so he knew he couldn't take it back. Rollll those eyes!
<br />I am so glad this post was started and I will definitely be giving it a lot of thought, with my dh. I want so badly to have it done but I fear more trouble with the results not actually clarifying things. I also have to laugh a little bit about the healthy nose thing for the test to work. Are there any CFers with healthy noses?? It seems like a tough thing to achieve, at least in Owen's case. He always has congestion and swelling. Will proceed with caution. In any case, I am eternally grateful for all of the information and support I get here. So big huge hugs to you all!
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[Beccamom]

I had a little laugh over the healthy nose idea as well.  When my daughter was hospitalized just a few days after the first NPD for yet another respiratory infection and I was told that they wanted to repeat the NDP when she was healthy for 4 to 6 weeks I laughed.  Didn't they realize that if she could stay healthy for 4 to 6 weeks, then maybe she didn't have CF.  Well we really lucked out on timing DD had the NPD on Thursday and on Saturday her sister started coughing, runny nose, and fever.  Although I am keeping them separate and should really buy stock in Lysol Wipes, in reality it is only a matter of time until this new bug gets passed on.  Now I wait to see if DD gets sick and then that would have happed within a week of the NPD again.  Quite a predicament to get a possible CFer healthy enough for the test, but without a dx they are not treated as agressively and always sick.  Now I wait until Monday, maybe Tuesday, for the final result.  I just want to thank all of the CFers and their families that have volunteered for clinical trials as these will not ony help all CFers, but also help to clarify what CF is for all of those in limbo.
 

 

[Beccamom]

I had a little laugh over the healthy nose idea as well. When my daughter was hospitalized just a few days after the first NPD for yet another respiratory infection and I was told that they wanted to repeat the NDP when she was healthy for 4 to 6 weeks I laughed. Didn't they realize that if she could stay healthy for 4 to 6 weeks, then maybe she didn't have CF. Well we really lucked out on timing DD had the NPD on Thursday and on Saturday her sister started coughing, runny nose, and fever. Although I am keeping them separate and should really buy stock in Lysol Wipes, in reality it is only a matter of time untilthis new bug getspassed on. Now I wait to see if DD gets sick and then that would have happed within a week of the NPD again. Quite a predicament to get a possible CFer healthy enough for the test, but without a dx they are not treated as agressively and always sick. Now I wait until Monday, maybe Tuesday, for the final result. I just want to thank all of the CFers and their families that have volunteered for clinical trials as these will not ony help all CFers, but also help to clarify what CF is for all of those in limbo.

 

[Beccamom]

<p>I had a little laugh over the healthy nose idea as well. When my daughter was hospitalized just a few days after the first NPD for yet another respiratory infection and I was told that they wanted to repeat the NDP when she was healthy for 4 to 6 weeks I laughed. Didn't they realize that if she could stay healthy for 4 to 6 weeks, then maybe she didn't have CF. Well we really lucked out on timing DD had the NPD on Thursday and on Saturday her sister started coughing, runny nose, and fever. Although I am keeping them separate and should really buy stock in Lysol Wipes, in reality it is only a matter of time untilthis new bug getspassed on. Now I wait to see if DD gets sick and then that would have happed within a week of the NPD again. Quite a predicament to get a possible CFer healthy enough for the test, but without a dx they are not treated as agressively and always sick. Now I wait until Monday, maybe Tuesday, for the final result. I just want to thank all of the CFers and their families that have volunteered for clinical trials as these will not ony help all CFers, but also help to clarify what CF is for all of those in limbo.
<p>

 

[Karenmichelle]

Thank you, Jennifer, for your relpy. You mentioned that you are a nurse...are you able to work?
We go to UNC as well. My son is waiting for Ambry results to come back. They have never mentioned the NPD test for him. Wondering if it is b/c his sinuses are so bad?!?! He has had 2 sinus surgeries, has polyps and chronic sinus infections. This disease  varies so much from person to person. It does seem hard to get a diagnosis, even with symptoms. I feel for everyone in that postion and that get caught in the crosshairs of the politics in healthcare. I am respectful to the doctors, but I am not there to make friends. I am there as an advocate for my child. (I am a nurse, too. But I think that hinders me at times.) He passed the sweat test, but has so many symptoms. After his bronch the pulm said he needed genetic testing b/c he was so junky in airways and cultured bacteria. I will say, that the M W F azithromycin regimine is working quite well for him. I pray he does not have CF....I just want him healthy. And able to get the treatment he needs. He sees the GI doc on Tuesday b/c he is FTT. Since the abx seems to be helping all the respiratory issues, I want to get the FTT figured out. He is so thin!!! He has not gained weight for 2years and has been on food supplementation for 2 years. I don't want it to effect his development in other areas.
So, with all of his symptoms and if the genetic comes back negative, should I push for the NPD?
Thanks to all for your support and wisdom!!! God Bless!
 

 

[Karenmichelle]

Thank you, Jennifer, for your relpy. You mentioned that you are a nurse...are you able to work?
We go to UNC as well. My son is waiting for Ambry results to come back. They have never mentioned the NPD test for him. Wondering if it is b/c his sinuses are so bad?!?! He has had 2 sinus surgeries, has polyps and chronic sinus infections. This disease varies so much from person to person. It does seem hard to get a diagnosis, even with symptoms. I feel for everyone in that postion andthat get caught in the crosshairs ofthe politicsin healthcare. I am respectful to the doctors, but I am not there to make friends. I am there as an advocate for my child. (I am a nurse, too. But I think that hinders me at times.) He passed the sweat test, but has so many symptoms. After his bronch the pulm said he needed genetic testing b/c he was sojunky in airwaysand cultured bacteria. I will say, that the M W F azithromycin regimine is working quite well for him.I pray he does not have CF....I just want him healthy. And able to get the treatment he needs. He sees the GI doc on Tuesday b/c he is FTT. Since the abx seems to be helping all the respiratory issues, I want to get the FTT figured out. He is so thin!!! He has not gained weight for 2years and has been on food supplementation for 2 years. I don't want it to effect his development in other areas.
So, with all of his symptoms and if the genetic comes back negative, should I push for the NPD?
Thanks to all for your support and wisdom!!! God Bless!

 

[Karenmichelle]

<p>Thank you, Jennifer, for your relpy. You mentioned that you are a nurse...are you able to work?
<p>We go to UNC as well. My son is waiting for Ambry results to come back. They have never mentioned the NPD test for him. Wondering if it is b/c his sinuses are so bad?!?! He has had 2 sinus surgeries, has polyps and chronic sinus infections. This disease varies so much from person to person. It does seem hard to get a diagnosis, even with symptoms. I feel for everyone in that postion andthat get caught in the crosshairs ofthe politicsin healthcare. I am respectful to the doctors, but I am not there to make friends. I am there as an advocate for my child. (I am a nurse, too. But I think that hinders me at times.) He passed the sweat test, but has so many symptoms. After his bronch the pulm said he needed genetic testing b/c he was sojunky in airwaysand cultured bacteria. I will say, that the M W F azithromycin regimine is working quite well for him.I pray he does not have CF....I just want him healthy. And able to get the treatment he needs. He sees the GI doc on Tuesday b/c he is FTT. Since the abx seems to be helping all the respiratory issues, I want to get the FTT figured out. He is so thin!!! He has not gained weight for 2years and has been on food supplementation for 2 years. I don't want it to effect his development in other areas.
<p>So, with all of his symptoms and if the genetic comes back negative, should I push for the NPD?
<p>Thanks to all for your support and wisdom!!! God Bless!
<p>

 

[JennifersHope]

Hi Karen, I do not go to UNC, I just went there to have the Nasal PD. I go to MUSC and I am seen by the CF doctor just not in a CF clinic. The Nasal PD is not usually done on really small children to my understanding. I would wait and see. Almost always Ambry can pick up the genes so I would go from there. If no genes are found, then I would think since UNC invented the Nasal Pd they will go ahead and do it if your child is old enough

I do work, very limitedly, I am on a program called the working disabled. Some months I can work up to one day a week and some months I can't work at all. I am just starting to recovery from a very serious episode that occurred on Thanksgiving when I ended up vented, and also my Addison's disease was not treated which caused a lot of slow healing.

So yes I am able to work some time but not very much. I am extremely frustrated because since my last intubation, I have had severe spasms in my airway and anything and everything triggers it, I am supposed to limit my exposure and control my environment.

Tonight, I went to a dinner with a friend, something in the restaurant triggered for me and now I am wheezing and having severe laryngeal spams.. It really makes me so frustrated because what am I supposed to do? Uggg anyway, good luck to you and your son....

 

[JennifersHope]

Hi Karen, I do not go to UNC, I just went there to have the Nasal PD. I go to MUSC and I am seen by the CF doctor just not in a CF clinic. The Nasal PD is not usually done on really small children to my understanding. I would wait and see. Almost always Ambry can pick up the genes so I would go from there. If no genes are found, then I would think since UNC invented the Nasal Pd they will go ahead and do it if your child is old enough

I do work, very limitedly, I am on a program called the working disabled. Some months I can work up to one day a week and some months I can't work at all. I am just starting to recovery from a very serious episode that occurred on Thanksgiving when I ended up vented, and also my Addison's disease was not treated which caused a lot of slow healing.

So yes I am able to work some time but not very much. I am extremely frustrated because since my last intubation, I have had severe spasms in my airway and anything and everything triggers it, I am supposed to limit my exposure and control my environment.

Tonight, I went to a dinner with a friend, something in the restaurant triggered for me and now I am wheezing and having severe laryngeal spams.. It really makes me so frustrated because what am I supposed to do? Uggg anyway, good luck to you and your son....

 

[JennifersHope]

Hi Karen, I do not go to UNC, I just went there to have the Nasal PD. I go to MUSC and I am seen by the CF doctor just not in a CF clinic. The Nasal PD is not usually done on really small children to my understanding. I would wait and see. Almost always Ambry can pick up the genes so I would go from there. If no genes are found, then I would think since UNC invented the Nasal Pd they will go ahead and do it if your child is old enough
<br />
<br />I do work, very limitedly, I am on a program called the working disabled. Some months I can work up to one day a week and some months I can't work at all. I am just starting to recovery from a very serious episode that occurred on Thanksgiving when I ended up vented, and also my Addison's disease was not treated which caused a lot of slow healing.
<br />
<br />So yes I am able to work some time but not very much. I am extremely frustrated because since my last intubation, I have had severe spasms in my airway and anything and everything triggers it, I am supposed to limit my exposure and control my environment.
<br />
<br />Tonight, I went to a dinner with a friend, something in the restaurant triggered for me and now I am wheezing and having severe laryngeal spams.. It really makes me so frustrated because what am I supposed to do? Uggg anyway, good luck to you and your son....

 

[Karenmichelle]

Jennifer, I am sorry you have had to deal with so much. Pray you get some answers and some relief of your symptoms. Good luck to you. Thank you for responding...will keep everyone updated. Hope to get some (good!) news this week with the Ambry results.

 

[Karenmichelle]

Jennifer, I am sorry you have had to deal with so much. Pray you get some answers and some relief of your symptoms. Good luck to you. Thank you for responding...will keep everyone updated. Hope to get some (good!) news this week with the Ambry results.

 

[Karenmichelle]

<p>Jennifer, I am sorry you have had to deal with so much. Pray you get some answers and some relief of your symptoms. Good luck to you. Thank you for responding...will keep everyone updated. Hope to get some (good!) news this week with the Ambry results.

 

[mom2owen]

Any word yet Beccamom?? I will wait patiently but am very curious <img src="i/expressions/face-icon-small-smile.gif" border="0"> I am keeping my fingers and toes crossed that it brings something conclusive for you. I understand it will likely bring a swell of emotions when you get the results, post when you can. hugs.

 

[mom2owen]

Any word yet Beccamom?? I will wait patiently but am very curious <img src="i/expressions/face-icon-small-smile.gif" border="0"> I am keeping my fingers and toes crossed that it brings something conclusive for you. I understand it will likely bring a swell of emotions when you get the results, post when you can. hugs.

 

[mom2owen]

Any word yet Beccamom?? I will wait patiently but am very curious <img src="i/expressions/face-icon-small-smile.gif" border="0"> I am keeping my fingers and toes crossed that it brings something conclusive for you. I understand it will likely bring a swell of emotions when you get the results, post when you can. hugs.

 

[Beccamom]

The NPD results are back and no CF diagnosis. Now we have to decide where to have the Primary Ciliary Dyskinesia testing done. The treatment is the same, but the overall prognosis for PCD is better. I have very mixed emotions in that I am so happy she does not have CF, but so worried that she will never get a proper diagnosis and therefore a treatment plan.

 

[Beccamom]

The NPD results are back and no CF diagnosis. Now we have to decide where to have the Primary Ciliary Dyskinesia testing done. The treatment is the same, but the overall prognosis for PCD is better. I have very mixed emotions in that I am so happy she does not have CF, but so worried that she will never get a proper diagnosis and therefore a treatment plan.

 

[Beccamom]

The NPD results are back and no CF diagnosis. Now we have to decide where to have the Primary Ciliary Dyskinesia testing done. The treatment is the same, but the overall prognosis for PCD is better. I have very mixed emotions in that I am so happy she does not have CF, but so worried that she will never get a proper diagnosis and therefore a treatment plan.
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[hmw]

How did they explain the results of the test? Was the cftr function completely normal the 2nd time?

I'm so sorry you are still stuck wondering, wondering, wondering- I hope you get the answers you need.