CF or Primary Ciliary Dyskinesia? New to mucus clearing disorders.

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Beccamom

New member
I have an 11 year old daughter who has been diagnosed with Severe asthma, GERD, and Failure to Thrive. he has G542X and 2 polymorphisms and 7t/9T variants. She had two negative sweat tests one age 4 CF center and 1 age 1 non-CF center. She has coughed since birth and at best hits the 3rd percentile in height and weight at times. She has had respiratory infectionns, sinus infections, and ear infections from 3 weeks old. She had a Nasal Potential Difference test that was inconclusive showing "significantly decreased CFTR function". Her lungs are colonized with Staph (not MRSA). Her FEV1 is up to 82% from a low of 45% this winter one week after pneumonia. On a recent CAT Scan she has mild scarring in the right middle lobe. All chest x-rays since 14 months old show atelecticist left lower lobe. I am worried that a delay in correct diagnosis will cause a treatment delay and more lung damage.

What are the advantages and disadvantages to diagnosis? Anyone else have experience with a pulmonologist debating between CF and Primary Ciliary Dyskinesia for diagnosis?
 
B

Beccamom

New member
I have an 11 year old daughter who has been diagnosed with Severe asthma, GERD, and Failure to Thrive. he has G542X and 2 polymorphisms and 7t/9T variants. She had two negative sweat tests one age 4 CF center and 1 age 1 non-CF center. She has coughed since birth and at best hits the 3rd percentile in height and weight at times. She has had respiratory infectionns, sinus infections, and ear infections from 3 weeks old. She had a Nasal Potential Difference test that was inconclusive showing "significantly decreased CFTR function". Her lungs are colonized with Staph (not MRSA). Her FEV1 is up to 82% from a low of 45% this winter one week after pneumonia. On a recent CAT Scan she has mild scarring in the right middle lobe. All chest x-rays since 14 months old show atelecticist left lower lobe. I am worried that a delay in correct diagnosis will cause a treatment delay and more lung damage.

What are the advantages and disadvantages to diagnosis? Anyone else have experience with a pulmonologist debating between CF and Primary Ciliary Dyskinesia for diagnosis?
 
B

Beccamom

New member
I have an 11 year old daughter who has been diagnosed with Severe asthma, GERD, and Failure to Thrive. he has G542X and 2 polymorphisms and 7t/9T variants. She had two negative sweat tests one age 4 CF center and 1 age 1 non-CF center. She has coughed since birth and at best hits the 3rd percentile in height and weight at times. She has had respiratory infectionns, sinus infections, and ear infections from 3 weeks old. She had a Nasal Potential Difference test that was inconclusive showing "significantly decreased CFTR function". Her lungs are colonized with Staph (not MRSA). Her FEV1 is up to 82% from a low of 45% this winter one week after pneumonia. On a recent CAT Scan she has mild scarring in the right middle lobe. All chest x-rays since 14 months old show atelecticist left lower lobe. I am worried that a delay in correct diagnosis will cause a treatment delay and more lung damage.
<br />
<br />What are the advantages and disadvantages to diagnosis? Anyone else have experience with a pulmonologist debating between CF and Primary Ciliary Dyskinesia for diagnosis?
 
A

amyr

New member
I am sorry you are in this spot, it sounds like you have been through a lot. Did they test for Ciliary Dyskinesia ?? Based on what you are reporting, I would push to start CF treatments in the interim. Advantages of dx are being able to get the meds & treatments your child clearly needs. Good luck to you.
 
A

amyr

New member
I am sorry you are in this spot, it sounds like you have been through a lot. Did they test for Ciliary Dyskinesia ?? Based on what you are reporting, I would push to start CF treatments in the interim. Advantages of dx are being able to get the meds & treatments your child clearly needs. Good luck to you.
 
A

amyr

New member
I am sorry you are in this spot, it sounds like you have been through a lot. Did they test for Ciliary Dyskinesia ?? Based on what you are reporting, I would push to start CF treatments in the interim. Advantages of dx are being able to get the meds & treatments your child clearly needs. Good luck to you.
 
A

amyr

New member
Forgot to add.. Yes my childrens dr.s looked into a Primary Ciliary Dyskinesia diagnosis but rulled it out based further testing and finally diagnosed my kids with Atypical CF due to "inconclusive testing" and positive CF phenotype..
 
A

amyr

New member
Forgot to add.. Yes my childrens dr.s looked into a Primary Ciliary Dyskinesia diagnosis but rulled it out based further testing and finally diagnosed my kids with Atypical CF due to "inconclusive testing" and positive CF phenotype..
 
A

amyr

New member
Forgot to add.. Yes my childrens dr.s looked into a Primary Ciliary Dyskinesia diagnosis but rulled it out based further testing and finally diagnosed my kids with Atypical CF due to "inconclusive testing" and positive CF phenotype..
 
M

mom2owen

New member
I am sorry you have had such a hard time. It is so hard to have a sick kid, and it is made even harder when you don't have a definitive diagnosis. We have had a rocky road with this as well but we are now getting pretty good treatment for our son. We are not in the same debate but I think when the doctor is right, the treatments come regardless of the diagnosis. We are now doing CPT, we also do cultures, and we are often using abx to treat. In some ways, that is more than I could have hoped for.
If we actually had a diagnosis, I know it would be a whole lot easier to get treatments. I have been thinking Owen needs hyperotonic saline, for example, for a while now but it is hard to ask for things when you want the doctor to just tell you what to do. But, they don't seem to know what to do if you don't have a diagnosis! It is such a catch-22. We are working very hard to develop a relationship with our clinic. It is hard to do because of the situation and because we have taken Owen all over the place over the years trying to get someone to tell us what is wrong. When they don't know, I want to move on to the next doctor hoping the next one will be the smartest <img src="i/expressions/face-icon-small-smile.gif" border="0"> and figure it out. But, I think the best thing, at this point, is for us to stick with someone so they can see how he is over time and then maybe the treatments will improve. That said, our new doctor NEVER calls when she says she will and I am already losing my patience with her, so we will see.
I am rambling but the short answer to your question, IMO, is that treatments are more accessible with a diagnosis. But, if it is only between those two, and the treatments are much the same, then maybe it wouldn't matter that much?? I am sure there are other reasons which other people can explain (would give you more indication of what to look for with other related complications, etc.). I guess the only other thing I would add, and it's because it is what I so desperately hope for for us, is that a dx would at least bring some closure to all the unanswered questions.
Good luck to you and I hope to hear how it turns out for you.
 
M

mom2owen

New member
I am sorry you have had such a hard time. It is so hard to have a sick kid, and it is made even harder when you don't have a definitive diagnosis. We have had a rocky road with this as well but we are now getting pretty good treatment for our son. We are not in the same debate but I think when the doctor is right, the treatments come regardless of the diagnosis. We are now doing CPT, we also do cultures, and we are often using abx to treat. In some ways, that is more than I could have hoped for.
If we actually had a diagnosis, I know it would be a whole lot easier to get treatments. I have been thinking Owen needs hyperotonic saline, for example, for a while now but it is hard to ask for things when you want the doctor to just tell you what to do. But, they don't seem to know what to do if you don't have a diagnosis! It is such a catch-22. We are working very hard to develop a relationship with our clinic. It is hard to do because of the situation and because we have taken Owen all over the place over the years trying to get someone to tell us what is wrong. When they don't know, I want to move on to the next doctor hoping the next one will be the smartest <img src="i/expressions/face-icon-small-smile.gif" border="0"> and figure it out. But, I think the best thing, at this point, is for us to stick with someone so they can see how he is over time and then maybe the treatments will improve. That said, our new doctor NEVER calls when she says she will and I am already losing my patience with her, so we will see.
I am rambling but the short answer to your question, IMO, is that treatments are more accessible with a diagnosis. But, if it is only between those two, and the treatments are much the same, then maybe it wouldn't matter that much?? I am sure there are other reasons which other people can explain (would give you more indication of what to look for with other related complications, etc.). I guess the only other thing I would add, and it's because it is what I so desperately hope for for us, is that a dx would at least bring some closure to all the unanswered questions.
Good luck to you and I hope to hear how it turns out for you.
 
M

mom2owen

New member
I am sorry you have had such a hard time. It is so hard to have a sick kid, and it is made even harder when you don't have a definitive diagnosis. We have had a rocky road with this as well but we are now getting pretty good treatment for our son. We are not in the same debate but I think when the doctor is right, the treatments come regardless of the diagnosis. We are now doing CPT, we also do cultures, and we are often using abx to treat. In some ways, that is more than I could have hoped for.
<br />If we actually had a diagnosis, I know it would be a whole lot easier to get treatments. I have been thinking Owen needs hyperotonic saline, for example, for a while now but it is hard to ask for things when you want the doctor to just tell you what to do. But, they don't seem to know what to do if you don't have a diagnosis! It is such a catch-22. We are working very hard to develop a relationship with our clinic. It is hard to do because of the situation and because we have taken Owen all over the place over the years trying to get someone to tell us what is wrong. When they don't know, I want to move on to the next doctor hoping the next one will be the smartest <img src="i/expressions/face-icon-small-smile.gif" border="0"> and figure it out. But, I think the best thing, at this point, is for us to stick with someone so they can see how he is over time and then maybe the treatments will improve. That said, our new doctor NEVER calls when she says she will and I am already losing my patience with her, so we will see.
<br />I am rambling but the short answer to your question, IMO, is that treatments are more accessible with a diagnosis. But, if it is only between those two, and the treatments are much the same, then maybe it wouldn't matter that much?? I am sure there are other reasons which other people can explain (would give you more indication of what to look for with other related complications, etc.). I guess the only other thing I would add, and it's because it is what I so desperately hope for for us, is that a dx would at least bring some closure to all the unanswered questions.
<br />Good luck to you and I hope to hear how it turns out for you.
 
B

Beccamom

New member
No Primary Ciliary Dyskinesia testing yet. Did you have that testing done at a center listed on the Primary Ciliary Dyskinesia foundation website?
 
B

Beccamom

New member
No Primary Ciliary Dyskinesia testing yet. Did you have that testing done at a center listed on the Primary Ciliary Dyskinesia foundation website?
 
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