Beccamom, I was just wondering if you have an appointment scheduled yet. My son is in a very similar situation. Before his pulmonologist tries to convince our insurance to cover the CF genetic testing, he decided to do the biopsy for PCD. He goes in on June 20th for both the biopsy and sinus surgery. I may have missed it, but did you have the nitric oxide test done for your daughter? If so, what were the results? My son came in low which is why the pulmonologist decided to do the biopsy. I hope your daughter is doing better.
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Nasal Potential Difference as Part of CF Dx process
- Thread starter Beccamom
- Start date
Beccamom, I was just wondering if you have an appointment scheduled yet. My son is in a very similar situation. Before his pulmonologist tries to convince our insurance to cover the CF genetic testing, he decided to do the biopsy for PCD. He goes in on June 20th for both the biopsy and sinus surgery. I may have missed it, but did you have the nitric oxide test done for your daughter? If so, what were the results? My son came in low which is why the pulmonologist decided to do the biopsy. I hope your daughter is doing better.
Beccamom, I was just wondering if you have an appointment scheduled yet. My son is in a very similar situation. Before his pulmonologist tries to convince our insurance to cover the CF genetic testing, he decided to do the biopsy for PCD. He goes in on June 20th for both the biopsy and sinus surgery. I may have missed it, but did you have the nitric oxide test done for your daughter? If so, what were the results? My son came in low which is why the pulmonologist decided to do the biopsy. I hope your daughter is doing better.
<div class="FTQUOTE"><begin quote>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.</end quote></div>
Did a dr use that math logic on you- that since one gene has a stop codon, the most function she could have is 50%? That doesn't make sense to me. CF is an autosomal recessive disease- you only need ONE functional gene to be healthy, so a carrier could have a stop mutation, but if the other gene was healthy, they would be a completely unaffected carrier. And even if you have two mutated genes, it's not always the most severe one that 'takes over' ...in many cases, it's the less severe mutation that determines disease course, at least early on.
Did a dr use that math logic on you- that since one gene has a stop codon, the most function she could have is 50%? That doesn't make sense to me. CF is an autosomal recessive disease- you only need ONE functional gene to be healthy, so a carrier could have a stop mutation, but if the other gene was healthy, they would be a completely unaffected carrier. And even if you have two mutated genes, it's not always the most severe one that 'takes over' ...in many cases, it's the less severe mutation that determines disease course, at least early on.
<div class="FTQUOTE"><begin quote>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.</end quote>
Did a dr use that math logic on you- that since one gene has a stop codon, the most function she could have is 50%? That doesn't make sense to me. CF is an autosomal recessive disease- you only need ONE functional gene to be healthy, so a carrier could have a stop mutation, but if the other gene was healthy, they would be a completely unaffected carrier. And even if you have two mutated genes, it's not always the most severe one that 'takes over' ...in many cases, it's the less severe mutation that determines disease course, at least early on.
Did a dr use that math logic on you- that since one gene has a stop codon, the most function she could have is 50%? That doesn't make sense to me. CF is an autosomal recessive disease- you only need ONE functional gene to be healthy, so a carrier could have a stop mutation, but if the other gene was healthy, they would be a completely unaffected carrier. And even if you have two mutated genes, it's not always the most severe one that 'takes over' ...in many cases, it's the less severe mutation that determines disease course, at least early on.
<div class="FTQUOTE"><begin quote>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.</end quote>
<br />Did a dr use that math logic on you- that since one gene has a stop codon, the most function she could have is 50%? That doesn't make sense to me. CF is an autosomal recessive disease- you only need ONE functional gene to be healthy, so a carrier could have a stop mutation, but if the other gene was healthy, they would be a completely unaffected carrier. And even if you have two mutated genes, it's not always the most severe one that 'takes over' ...in many cases, it's the less severe mutation that determines disease course, at least early on.
<br />Did a dr use that math logic on you- that since one gene has a stop codon, the most function she could have is 50%? That doesn't make sense to me. CF is an autosomal recessive disease- you only need ONE functional gene to be healthy, so a carrier could have a stop mutation, but if the other gene was healthy, they would be a completely unaffected carrier. And even if you have two mutated genes, it's not always the most severe one that 'takes over' ...in many cases, it's the less severe mutation that determines disease course, at least early on.
The pulmonary fellow used this math "logic" on me and then said you only need 10% function of CFTR to be unaffected. Well my DDs actual Dr was at a conference last week and this week, so we still wait to get to talk directly with him. From the pulm fellow CF was officially ruled out. Then she sent me an E-mail asking telling me my daughter's had "a sub-optimal response to the pneumococcus vaccine". That is interesting since my daughter never had the pneumococcus vaccine. Does this mean she has bad pneumonia so many times that she has enough titers to look like she had the shot, but it wasn't effective enough? I am not sure what to think of that comment by the fellow, but she is now scheduled for the pneumococcus vaccine at the pediatrician next week. I still think our next step is to test for Primary Ciliary Dyskinesia, but I have not been able to confirm that with my DDs Dr since he has been away. Meanwhile, my DD is coughing up a lot more mucus during chest PT this week then last week and I fear she is getting sick again. Unfortunately her sister and I have sinus infections and although I am trying to stay away and disinfect often, my husband is away for business so as the mom I can only distance myself to a point. I had considered wearing a mask while I do the manual chest PT, but don't know if I am over-reacting. Still seeking a diagnosis and appreciate so much support from everyone on this site.
The pulmonary fellow used this math "logic" on me and then said you only need 10% function of CFTR to be unaffected. Well my DDs actual Dr was at a conference last week and this week, so we still wait to get to talk directly with him. From the pulm fellow CF was officially ruled out. Then she sent me an E-mail asking telling me my daughter's had "a sub-optimal response to the pneumococcus vaccine". That is interesting since my daughter never had the pneumococcus vaccine. Does this mean she has bad pneumonia so many times that she has enough titers to look like she had the shot, but it wasn't effective enough? I am not sure what to think of that comment by the fellow, but she is now scheduled for the pneumococcus vaccine at the pediatrician next week. I still think our next step is to test for Primary Ciliary Dyskinesia, but I have not been able to confirm that with my DDs Dr since he has been away. Meanwhile, my DD is coughing up a lot more mucus during chest PT this week then last week and I fear she is getting sick again. Unfortunately her sister and I have sinus infections and although I am trying to stay away and disinfect often, my husband is away for business so as the mom I can only distance myself to a point. I had considered wearing a mask while I do the manual chest PT, but don't know if I am over-reacting. Still seeking a diagnosis and appreciate so much support from everyone on this site.
The pulmonary fellow used this math "logic" on me and then said you only need 10% function of CFTR to be unaffected. Well my DDs actual Dr was at a conference last week and this week, so we still wait to get to talk directly with him. From the pulm fellow CF was officially ruled out. Then she sent me an E-mail asking telling me my daughter's had "a sub-optimal response to the pneumococcus vaccine". That is interesting since my daughter never had the pneumococcus vaccine. Does this mean she has bad pneumonia so many times that she has enough titers to look like she had the shot, but it wasn't effective enough? I am not sure what to think of that comment by the fellow, but she is now scheduled for the pneumococcus vaccine at the pediatrician next week. I still think our next step is to test for Primary Ciliary Dyskinesia, but I have not been able to confirm that with my DDs Dr since he has been away. Meanwhile, my DD is coughing up a lot more mucus during chest PT this week then last week and I fear she is getting sick again. Unfortunately her sister and I have sinus infections and although I am trying to stay away and disinfect often, my husband is away for business so as the mom I can only distance myself to a point. I had considered wearing a mask while I do the manual chest PT, but don't know if I am over-reacting. Still seeking a diagnosis and appreciate so much support from everyone on this site.
We have not had a nitric oxide test done. As far as I know that is not available at the hospital we go to. I have been waiting for two weeks for my DDs Dr to give us the go so we can go to UNC. At UNC they feel I should bring both of my girls. I sent the medical records that UNC requested and all we are waiting on is the go from our current pulmonologist. Unless a test from my daughter's hospitalization gave him a new idea, then from our initial appointment he mentioned first ruling out CF and if CF was ruled out then the next item on the list was PCD. Where did you get the nitric oxide test done? Can most children's hospitals do that or just the 5 PCD centers?
Meanwhile, I went to ENT for me since being a typical mom I neglected myself and my dr reminded me I have had 6 sinus infections in 6 months and one every 2 to 3 months for the past 3 years. I had a scope and my sinus's are impacted. My father had 2 sinus surgeries and only the 3rd worked and reading on the PCD sites the surgery he had matches the PCD recommendations as it is gravity dependent not cilia dependent to clear the sinus. I guess my daughter takes after me. What a mess.
Good luck with your testing. Keep me updated.
Meanwhile, I went to ENT for me since being a typical mom I neglected myself and my dr reminded me I have had 6 sinus infections in 6 months and one every 2 to 3 months for the past 3 years. I had a scope and my sinus's are impacted. My father had 2 sinus surgeries and only the 3rd worked and reading on the PCD sites the surgery he had matches the PCD recommendations as it is gravity dependent not cilia dependent to clear the sinus. I guess my daughter takes after me. What a mess.
Good luck with your testing. Keep me updated.
We have not had a nitric oxide test done. As far as I know that is not available at the hospital we go to. I have been waiting for two weeks for my DDs Dr to give us the go so we can go to UNC. At UNC they feel I should bring both of my girls. I sent the medical records that UNC requested and all we are waiting on is the go from our current pulmonologist. Unless a test from my daughter's hospitalization gave him a new idea, then from our initial appointment he mentioned first ruling out CF and if CF was ruled out then the next item on the list was PCD. Where did you get the nitric oxide test done? Can most children's hospitals do that or just the 5 PCD centers?
Meanwhile, I went to ENT for me since being a typical mom I neglected myself and my dr reminded me I have had 6 sinus infections in 6 months and one every 2 to 3 months for the past 3 years. I had a scope and my sinus's are impacted. My father had 2 sinus surgeries and only the 3rd worked and reading on the PCD sites the surgery he had matches the PCD recommendations as it is gravity dependent not cilia dependent to clear the sinus. I guess my daughter takes after me. What a mess.
Good luck with your testing. Keep me updated.
Meanwhile, I went to ENT for me since being a typical mom I neglected myself and my dr reminded me I have had 6 sinus infections in 6 months and one every 2 to 3 months for the past 3 years. I had a scope and my sinus's are impacted. My father had 2 sinus surgeries and only the 3rd worked and reading on the PCD sites the surgery he had matches the PCD recommendations as it is gravity dependent not cilia dependent to clear the sinus. I guess my daughter takes after me. What a mess.
Good luck with your testing. Keep me updated.
We have not had a nitric oxide test done. As far as I know that is not available at the hospital we go to. I have been waiting for two weeks for my DDs Dr to give us the go so we can go to UNC. At UNC they feel I should bring both of my girls. I sent the medical records that UNC requested and all we are waiting on is the go from our current pulmonologist. Unless a test from my daughter's hospitalization gave him a new idea, then from our initial appointment he mentioned first ruling out CF and if CF was ruled out then the next item on the list was PCD. Where did you get the nitric oxide test done? Can most children's hospitals do that or just the 5 PCD centers?
Meanwhile, I went to ENT for me since being a typical mom I neglected myself and my dr reminded me I have had 6 sinus infections in 6 months and one every 2 to 3 months for the past 3 years. I had a scope and my sinus's are impacted. My father had 2 sinus surgeries and only the 3rd worked and reading on the PCD sites the surgery he had matches the PCD recommendations as it is gravity dependent not cilia dependent to clear the sinus. I guess my daughter takes after me. What a mess.
Good luck with your testing. Keep me updated.
Meanwhile, I went to ENT for me since being a typical mom I neglected myself and my dr reminded me I have had 6 sinus infections in 6 months and one every 2 to 3 months for the past 3 years. I had a scope and my sinus's are impacted. My father had 2 sinus surgeries and only the 3rd worked and reading on the PCD sites the surgery he had matches the PCD recommendations as it is gravity dependent not cilia dependent to clear the sinus. I guess my daughter takes after me. What a mess.
Good luck with your testing. Keep me updated.
K
Karenmichelle
Guest
Beccamom...they may be talking about the Prevnar vaccine. My son has had to have two boosters because he did not receive immunity to it. Just another piece of the puzzle for us to figure out <img src="i/expressions/face-icon-small-smile.gif" border="0"> Hope you get some answers. We have been very happy with UNC. God bless.
K
Karenmichelle
Guest
Beccamom...they may be talking about the Prevnar vaccine. My son has had to have two boosters because he did not receive immunity to it. Just another piece of the puzzle for us to figure out <img src="i/expressions/face-icon-small-smile.gif" border="0"> Hope you get some answers. We have been very happy with UNC. God bless.
K
Karenmichelle
Guest
Beccamom...they may be talking about the Prevnar vaccine. My son has had to have two boosters because he did not receive immunity to it. Just another piece of the puzzle for us to figure out <img src="i/expressions/face-icon-small-smile.gif" border="0"> Hope you get some answers. We have been very happy with UNC. God bless.
You should be a doctor. With my DDs pulmonologist still at a conference I decided to call my pediatrician for advice. He was great and you are right. She had immunity to about half of the strains the Prevnar vaccine covered. She will have a booster next week as well as the Pneumovax 23 vaccine which covers more strains of the illness. I guess I will get information next week about going to UNC since I am still on hold with the pulmonologist being on vacation. All who I have spoken to at UNC have been nice and very informative. I'll keep you updated. I know we all learn from each others experiences.
You should be a doctor. With my DDs pulmonologist still at a conference I decided to call my pediatrician for advice. He was great and you are right. She had immunity to about half of the strains the Prevnar vaccine covered. She will have a booster next week as well as the Pneumovax 23 vaccine which covers more strains of the illness. I guess I will get information next week about going to UNC since I am still on hold with the pulmonologist being on vacation. All who I have spoken to at UNC have been nice and very informative. I'll keep you updated. I know we all learn from each others experiences.
You should be a doctor. With my DDs pulmonologist still at a conference I decided to call my pediatrician for advice. He was great and you are right. She had immunity to about half of the strains the Prevnar vaccine covered. She will have a booster next week as well as the Pneumovax 23 vaccine which covers more strains of the illness. I guess I will get information next week about going to UNC since I am still on hold with the pulmonologist being on vacation. All who I have spoken to at UNC have been nice and very informative. I'll keep you updated. I know we all learn from each others experiences.
K
Karenmichelle
Guest
<span style="font-size: small;">Beccamom, please keep me posted....glad you were able to speak to someone. Tyler had the Pnemovax 23 last year (after we found out he did not have immunity to the Prevnar vaccine). Then he had to have the Prevnar 13 in March after we discovered he did not have immunity AGAIN! We are going back to Allergy/Immunology/ID clinic at UNC to try and figure it out. We think that he gets about 6months of (partial) immunity. His labs were even lower the with second round of vaccine. That is great he can get a booster, but I want to know WHY he keeps needing to get one. The immunity panel came back normal. We are dealing with his FTT and seeing the GI doctor for that. One doctor appointment/specialty after another. I am glad they all have access to his records/labs since they are in one location <img src="i/expressions/face-icon-small-smile.gif" border="0"> Hope you get some anwers. This forum has been great for support and information. So glad to have others to share and learn from. Would be interested in hearing what the doctor tells you. Take care. God Bless
K
Karenmichelle
Guest
<span style="font-size: small;">Beccamom,please keep me posted....glad you were able to speak to someone. Tyler had the Pnemovax 23 last year (after we found out he did not have immunity to the Prevnar vaccine). Then he had to have the Prevnar 13 in March after we discovered he did not have immunity AGAIN! We are going back to Allergy/Immunology/ID clinic at UNC to try and figure it out. Wethink that he gets about 6months of (partial) immunity. His labs were even lower the with second round of vaccine. That is great he can get a booster, but I want to know WHY he keeps needing to get one.The immunity panel came back normal. We are dealing with his FTT and seeing the GI doctor for that. One doctor appointment/specialty after another. I am glad they all have access to his records/labs since they are in one location <img src="i/expressions/face-icon-small-smile.gif" border="0"> Hope you get some anwers. This forum has been great for support and information. So glad to have others to share and learn from. Would be interested in hearing what the doctor tells you. Take care. God Bless