nasal differential testing questions

A

anchored

New member
I was wondering if anyone out there has done the nasal potential differential testing. I know its not offered in too many facilities and we're trying to figure out if its something we need to pursue.

Our 5 yo son has chronic sinus disease. He is a CF carrier and had a normal sweat test. His sinus disease is so unusual that our ENT thinks its really related to his carrier status. I'm wondering if the NPD test will help us confirm that and while it wouldn't change his current treatment do we really need to know for the future? His known mutation is most commonly related to the vas deferens so does this mean we don't have to worry about all the other stuff or with such awful sinuses do we need to know to be appropriately preventive if he were to really have CF?

I appreciate the insight on this forum as it seems to more accurately reflect what the latest journal articles say about CF, atypical CF, or CFTR related disease than some of the docs who still swear the sweat test is the be all end all.

Thanks!
 
A

anchored

New member
I was wondering if anyone out there has done the nasal potential differential testing. I know its not offered in too many facilities and we're trying to figure out if its something we need to pursue.

Our 5 yo son has chronic sinus disease. He is a CF carrier and had a normal sweat test. His sinus disease is so unusual that our ENT thinks its really related to his carrier status. I'm wondering if the NPD test will help us confirm that and while it wouldn't change his current treatment do we really need to know for the future? His known mutation is most commonly related to the vas deferens so does this mean we don't have to worry about all the other stuff or with such awful sinuses do we need to know to be appropriately preventive if he were to really have CF?

I appreciate the insight on this forum as it seems to more accurately reflect what the latest journal articles say about CF, atypical CF, or CFTR related disease than some of the docs who still swear the sweat test is the be all end all.

Thanks!
 
A

anchored

New member
I was wondering if anyone out there has done the nasal potential differential testing. I know its not offered in too many facilities and we're trying to figure out if its something we need to pursue.
<br />
<br />Our 5 yo son has chronic sinus disease. He is a CF carrier and had a normal sweat test. His sinus disease is so unusual that our ENT thinks its really related to his carrier status. I'm wondering if the NPD test will help us confirm that and while it wouldn't change his current treatment do we really need to know for the future? His known mutation is most commonly related to the vas deferens so does this mean we don't have to worry about all the other stuff or with such awful sinuses do we need to know to be appropriately preventive if he were to really have CF?
<br />
<br />I appreciate the insight on this forum as it seems to more accurately reflect what the latest journal articles say about CF, atypical CF, or CFTR related disease than some of the docs who still swear the sweat test is the be all end all.
<br />
<br />Thanks!
 
H

hmw

New member
<div class="FTQUOTE"><begin quote>His known mutation is most commonly related to the vas deferens so does this mean we don't have to worry about all the other stuff or with such awful sinuses do we need to know to be appropriately preventive if he were to really have CF?</end quote></div>
In a word, yes. If there is a possibility someone has cf, it's always better to know. What you see during early childhood is not necessarily the indication of all you will ever see... so it's important to know so preventative treatment can begin.

My son needs this test as well and we'll be trying to get it at Hopkins (along with a complete workup.) We do not know if he is a mildly symptomatic kid with cf or a symptomatic carrier and his sweat tests were borderline.

I hope you get the answers you need and are able to get the NPD test soon for your son.
 
H

hmw

New member
<div class="FTQUOTE"><begin quote>His known mutation is most commonly related to the vas deferens so does this mean we don't have to worry about all the other stuff or with such awful sinuses do we need to know to be appropriately preventive if he were to really have CF?</end quote>
In a word, yes. If there is a possibility someone has cf, it's always better to know. What you see during early childhood is not necessarily the indication of all you will ever see... so it's important to know so preventative treatment can begin.

My son needs this test as well and we'll be trying to get it at Hopkins (along with a complete workup.) We do not know if he is a mildly symptomatic kid with cf or a symptomatic carrier and his sweat tests were borderline.

I hope you get the answers you need and are able to get the NPD test soon for your son.
 
H

hmw

New member
<div class="FTQUOTE"><begin quote>His known mutation is most commonly related to the vas deferens so does this mean we don't have to worry about all the other stuff or with such awful sinuses do we need to know to be appropriately preventive if he were to really have CF?</end quote>
<br />In a word, yes. If there is a possibility someone has cf, it's always better to know. What you see during early childhood is not necessarily the indication of all you will ever see... so it's important to know so preventative treatment can begin.
<br />
<br />My son needs this test as well and we'll be trying to get it at Hopkins (along with a complete workup.) We do not know if he is a mildly symptomatic kid with cf or a symptomatic carrier and his sweat tests were borderline.
<br />
<br />I hope you get the answers you need and are able to get the NPD test soon for your son.
<br />
<br />
 
T

tacos99

New member
My 2 children (1 wcf, 1wocf) are involved in a research study here in Birmingham to perfect the NPD testing. The test shows definitely if the patient has CF sinuses. I have been shown the results and even I, with no medical background, could read the results clearly. I don't know if it will show that carrier status plays a role in your childs simus issues beacause my non cfer carries no mutation.
I am having my middle son tested as soon as possible because he is a carrier of 2184insA and has horrible sinus issues as well as some lung involvement. He also had a positive sweat test of 69 but without the second mutation he appears to not have CF. I am hoping, like you, to find out if his carrier status has something to do with his problems. To me this test is really more definitive than the sweat test. My other son had a borderline sweat test (46) and the npd showed he was negative for CF without a doubt.
I know this has been a rambling answer, but I would get the NPD. It takes about 40 min and a small needle has to be inserted under the skin of the forearm. Just under the skin, not into a vein. A thin tube is placed in the nose and various meds such as albuteral are run through. The liquid will come back out the nose so it doesn't go down the throat and choke them. My children in the study are 10 and 14 but I feel like a 5 year old could do it with Mom close by for comfort. It's not painful, just long. Good luck and take care.
 
T

tacos99

New member
My 2 children (1 wcf, 1wocf) are involved in a research study here in Birmingham to perfect the NPD testing. The test shows definitely if the patient has CF sinuses. I have been shown the results and even I, with no medical background, could read the results clearly. I don't know if it will show that carrier status plays a role in your childs simus issues beacause my non cfer carries no mutation.
I am having my middle son tested as soon as possible because he is a carrier of 2184insA and has horrible sinus issues as well as some lung involvement. He also had a positive sweat test of 69 but without the second mutation he appears to not have CF. I am hoping, like you, to find out if his carrier status has something to do with his problems. To me this test is really more definitive than the sweat test. My other son had a borderline sweat test (46) and the npd showed he was negative for CF without a doubt.
I know this has been a rambling answer, but I would get the NPD. It takes about 40 min and a small needle has to be inserted under the skin of the forearm. Just under the skin, not into a vein. A thin tube is placed in the nose and various meds such as albuteral are run through. The liquid will come back out the nose so it doesn't go down the throat and choke them. My children in the study are 10 and 14 but I feel like a 5 year old could do it with Mom close by for comfort. It's not painful, just long. Good luck and take care.
 
T

tacos99

New member
My 2 children (1 wcf, 1wocf) are involved in a research study here in Birmingham to perfect the NPD testing. The test shows definitely if the patient has CF sinuses. I have been shown the results and even I, with no medical background, could read the results clearly. I don't know if it will show that carrier status plays a role in your childs simus issues beacause my non cfer carries no mutation.
<br />I am having my middle son tested as soon as possible because he is a carrier of 2184insA and has horrible sinus issues as well as some lung involvement. He also had a positive sweat test of 69 but without the second mutation he appears to not have CF. I am hoping, like you, to find out if his carrier status has something to do with his problems. To me this test is really more definitive than the sweat test. My other son had a borderline sweat test (46) and the npd showed he was negative for CF without a doubt.
<br />I know this has been a rambling answer, but I would get the NPD. It takes about 40 min and a small needle has to be inserted under the skin of the forearm. Just under the skin, not into a vein. A thin tube is placed in the nose and various meds such as albuteral are run through. The liquid will come back out the nose so it doesn't go down the throat and choke them. My children in the study are 10 and 14 but I feel like a 5 year old could do it with Mom close by for comfort. It's not painful, just long. Good luck and take care.
 
H

hmw

New member
<div class="FTQUOTE"><begin quote>I am having my middle son tested as soon as possible because he is a carrier of 2184insA and has horrible sinus issues as well as some lung involvement. He also had a positive sweat test of 69 but without the second mutation he appears to not have CF.</end quote></div>
This is truly a difficult position to be in, since about 2% of people who have cf will only have one mutation detected on even the most comprehensive genetic testing. We hope this test helps solves the mystery of what is going on with my son, too. He is almost 13. He has developed some minor resp symptoms (reactive airways and shortness of breath in response to predictable triggers and illness) and has had chronic sinus issues for a LONG time now. His sister has only the one mutation but is very symptomatic and had very high sweat test (108) so we know her status. We just need to determine her brother's status so we know, once and for all, what we are dealing with here. At 14, have any of your son's drs brought up the idea of testing him at some point soon for cbavd? That is on the table for when my son gets a little older, if things are still indeterminate...
 
H

hmw

New member
<div class="FTQUOTE"><begin quote>I am having my middle son tested as soon as possible because he is a carrier of 2184insA and has horrible sinus issues as well as some lung involvement. He also had a positive sweat test of 69 but without the second mutation he appears to not have CF.</end quote>
This is truly a difficult position to be in, since about 2% of people who have cf will only have one mutation detected on even the most comprehensive genetic testing. We hope this test helps solves the mystery of what is going on with my son, too. He is almost 13. He has developed some minor resp symptoms (reactive airways and shortness of breath in response to predictable triggers and illness) and has had chronic sinus issues for a LONG time now. His sister has only the one mutation but is very symptomatic and had very high sweat test (108) so we know her status. We just need to determine her brother's status so we know, once and for all, what we are dealing with here. At 14, have any of your son's drs brought up the idea of testing him at some point soon for cbavd? That is on the table for when my son gets a little older, if things are still indeterminate...
 
H

hmw

New member
<div class="FTQUOTE"><begin quote>I am having my middle son tested as soon as possible because he is a carrier of 2184insA and has horrible sinus issues as well as some lung involvement. He also had a positive sweat test of 69 but without the second mutation he appears to not have CF.</end quote>
<br />This is truly a difficult position to be in, since about 2% of people who have cf will only have one mutation detected on even the most comprehensive genetic testing. We hope this test helps solves the mystery of what is going on with my son, too. He is almost 13. He has developed some minor resp symptoms (reactive airways and shortness of breath in response to predictable triggers and illness) and has had chronic sinus issues for a LONG time now. His sister has only the one mutation but is very symptomatic and had very high sweat test (108) so we know her status. We just need to determine her brother's status so we know, once and for all, what we are dealing with here. At 14, have any of your son's drs brought up the idea of testing him at some point soon for cbavd? That is on the table for when my son gets a little older, if things are still indeterminate...
 
T

tacos99

New member
Harriett, my middle son, Christopher, is actually 17 now but was 15 when Shelby, my 10 year old, was diagnosed. He was sweat tested and they did the Ambry amplified test on him but only came up with the one mutation. Shelby's other mutation is df508. Since he didn't have both mutations the CF doc said he's fine and that was that. I had not thought about the cbavd. He coughs up mucus every morning for about 30min to an hour and has terrible sinuses, so this has been my main focus, but I think I will talk to his doctor about that aspect. The funny thing is, my daughter with CF never coughs or shows any kind of classic CF symptoms. I'm really hoping this test might get a doc interested in addressing the coughing and sinus issues. Right now the only thing that helps a little for him is mucinex.
How is your son being treated for his resp issues?
 
T

tacos99

New member
Harriett, my middle son, Christopher, is actually 17 now but was 15 when Shelby, my 10 year old, was diagnosed. He was sweat tested and they did the Ambry amplified test on him but only came up with the one mutation. Shelby's other mutation is df508. Since he didn't have both mutations the CF doc said he's fine and that was that. I had not thought about the cbavd. He coughs up mucus every morning for about 30min to an hour and has terrible sinuses, so this has been my main focus, but I think I will talk to his doctor about that aspect. The funny thing is, my daughter with CF never coughs or shows any kind of classic CF symptoms. I'm really hoping this test might get a doc interested in addressing the coughing and sinus issues. Right now the only thing that helps a little for him is mucinex.
How is your son being treated for his resp issues?
 
T

tacos99

New member
Harriett, my middle son, Christopher, is actually 17 now but was 15 when Shelby, my 10 year old, was diagnosed. He was sweat tested and they did the Ambry amplified test on him but only came up with the one mutation. Shelby's other mutation is df508. Since he didn't have both mutations the CF doc said he's fine and that was that. I had not thought about the cbavd. He coughs up mucus every morning for about 30min to an hour and has terrible sinuses, so this has been my main focus, but I think I will talk to his doctor about that aspect. The funny thing is, my daughter with CF never coughs or shows any kind of classic CF symptoms. I'm really hoping this test might get a doc interested in addressing the coughing and sinus issues. Right now the only thing that helps a little for him is mucinex.
<br />How is your son being treated for his resp issues?
 
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