New mutations being found all the time?

J

JennifersHope

New member
I just got an email from Dr Nick who is the CF doctor at National Jewish, and he basically said the same thing, because one of my mutations has never been described before, He said he has seen people diagnosed, undiagnosed and then rediagnosed with CF many times over the course of their life.
<br />
<br />They are still not thinking I have CF because of the Nasal PD but then in the same sentence he said that my CF gene just might be the way it manifests... so complicated and so hard to know what to do.
<br />
<br />I have them working so hard to help me get diagnosed properly. I am so complicated because I test positive but have Addison's which is known to cause false positives.. They actually are considering re sweat testing me again, because supposedly once your Addison's is under control you should not still test for a false positive.
<br />
<br />National Jewish has never in their entire history have a patient test positive for CF via sweat tests, two genes and then have a negative Nasal PD, so they are joining the club of confused people. Though like I said they are still leaning toward not having it. They are working on trying to figure out what is going on with me....
<br />
<br />I don't know what I am supposed to do, and I have to be okay with that. We are just doing the best we can.
 
K

Karenmichelle

Guest
I am new to this site and all the ins and outs of CF...so have some grace with me <img src="i/expressions/face-icon-small-smile.gif" border="0"> It was my understanding from info we received, that if you genetically tested postitive for CF and had clinical symptoms, then they diagnosed you with CF.
Why would they not repeat the Nasal PD? Did you not repeat some of the other tests? I am confused anymore to what the "gold standard" is nowadays for diagnosing someone. Always thought it was the sweat test. My son passed his with flying colors, but when they did his bronch they wanted genetic testing done b/c he presents like a "CF kid". So, we had to worry again. We are now awaiting the results of the Ambry CF Amplified (for "peace of mind", per the doctor). What if that comes back negative? Do we have the Nasal PD done and go with that answer (even if it is different?).
There is such a randomness to this disease...so different from person to person.
I know it is out of my control and I just try to place it in the Lord's hand daily. God bless everyone that this disease has touched and their loved ones.
 
K

Karenmichelle

Guest
I am new to this site and all the ins and outs of CF...so have some grace with me <img src="i/expressions/face-icon-small-smile.gif" border="0"> It was my understanding from info we received, that if you genetically tested postitive for CF and had clinical symptoms, then they diagnosed you with CF.
Why would they not repeat the Nasal PD? Did you not repeat some of the other tests? I am confused anymore to what the "gold standard" is nowadays for diagnosing someone. Always thought it was the sweat test. My son passed his with flying colors, but when they did his bronch they wanted genetic testing done b/c he presents like a "CF kid". So, we had to worry again. We are now awaiting the results of the Ambry CF Amplified (for "peace of mind", per the doctor). What if that comes back negative? Do we have the Nasal PD done and go with that answer (even if it is different?).
There is such a randomness to this disease...so different from person to person.
I know it is out of my control and I just try to place it in the Lord's hand daily. God bless everyone that this disease has touched and their loved ones.
 
K

Karenmichelle

Guest
I am new to this site and all the ins and outs of CF...so have some grace with me <img src="i/expressions/face-icon-small-smile.gif" border="0"> It was my understanding from info we received, that if you genetically tested postitive for CF and had clinical symptoms, then they diagnosed you with CF.
<br />Why would they not repeat the Nasal PD? Did you not repeat some of the other tests? I am confused anymore to what the "gold standard" is nowadays for diagnosing someone. Always thought it was the sweat test. My son passed his with flying colors, but when they did his bronch they wanted genetic testing done b/c he presents like a "CF kid". So, we had to worry again. We are now awaiting the results of the Ambry CF Amplified (for "peace of mind", per the doctor). What if that comes back negative? Do we have the Nasal PD done and go with that answer (even if it is different?).
<br />There is such a randomness to this disease...so different from person to person.
<br /> I know it is out of my control and I just try to place it in the Lord's hand daily. God bless everyone that this disease has touched and their loved ones.
<br />
<br />
 
H

hmw

New member
Karenmichelle~ if you genetically test positive and have symptoms, then yes a CF dx is made. Those two factors are pretty solid when it comes to dx'ing CF in the vast majority of the CF population.

When it comes to a small subset of the CF population with 'positive' test results, other diseases or disorders can come into play. For example, a positive sweat test can be the result of another disease, like some rare metabolic diseases (which have their own non-cf-like symptoms, or Addison's disease which also has non-cf-like symptoms.) If the above poster has a repeat positive sweat test result despite her Addison's being controlled, to accompany her cf-like symptoms which have gotten much worse since discontinuing her cf-specific treatments + two mutations, it's going to be awfully hard to completely rule out CF for her, despite the negative NPD, in my opinion. But her situation is inordinately rare... most people with an iffy cf dx don't have genetic results ALSO pointing to a cf dx but turn out to have a completely separate disease to explain their symptoms.

Most people in the diagnostic process won't end up with an extremely complicated course.
Typical tests: The whole picture has to be considered; no one test or factor in isolation can give you comprehensive answers.
Results of newborn screening, if available and family history.
Sweat tests, repeated a couple times if needed.
Genetic tests- gold standard being sequencing+deletions and duplications, not just a panel test. Genetic testing of any kind can confirm a dx but cannot rule it out with 100% certainty, since there is always the chance that one can have a mutation that is not caught on the test (certain parts of the gene are not examined, etc.)
Lab tests like sputum culture, xray/ct scan, fecal fat/elastase for pancreatic insufficiency etc to see if there are results consistent with CF
The hx- what is going on with the child and how do they respond to treatment? Do they improve with treatments that are tailored for one with cf?

NPD is done much more rarely and is only available at a few centers. Technically, it should also be repeated but I don't hear of this often being done.
 
H

hmw

New member
Karenmichelle~ if you genetically test positive and have symptoms, then yes a CF dx is made. Those two factors are pretty solid when it comes to dx'ing CF in the vast majority of the CF population.

When it comes to a small subset of the CF population with 'positive' test results, other diseases or disorders can come into play. For example, a positive sweat test can be the result of another disease, like some rare metabolic diseases (which have their own non-cf-like symptoms, or Addison's disease which also has non-cf-like symptoms.) If the above poster has a repeat positive sweat test result despite her Addison's being controlled, to accompany her cf-like symptoms which have gotten much worse since discontinuing her cf-specific treatments + two mutations, it's going to be awfully hard to completely rule out CF for her, despite the negative NPD, in my opinion. But her situation is inordinately rare... most people with an iffy cf dx don't have genetic results ALSO pointing to a cf dx but turn out to have a completely separate disease to explain their symptoms.

Most people in the diagnostic process won't end up with an extremely complicated course.
Typical tests: The whole picture has to be considered; no one test or factor in isolation can give you comprehensive answers.
Results of newborn screening, if available and family history.
Sweat tests, repeated a couple times if needed.
Genetic tests- gold standard being sequencing+deletions and duplications, not just a panel test. Genetic testing of any kind can confirm a dx but cannot rule it out with 100% certainty, since there is always the chance that one can have a mutation that is not caught on the test (certain parts of the gene are not examined, etc.)
Lab tests like sputum culture, xray/ct scan, fecal fat/elastase for pancreatic insufficiency etc to see if there are results consistent with CF
The hx- what is going on with the child and how do they respond to treatment? Do they improve with treatments that are tailored for one with cf?

NPD is done much more rarely and is only available at a few centers. Technically, it should also be repeated but I don't hear of this often being done.
 
H

hmw

New member
Karenmichelle~ if you genetically test positive and have symptoms, then yes a CF dx is made. Those two factors are pretty solid when it comes to dx'ing CF in the vast majority of the CF population.
<br />
<br />When it comes to a small subset of the CF population with 'positive' test results, other diseases or disorders can come into play. For example, a positive sweat test can be the result of another disease, like some rare metabolic diseases (which have their own non-cf-like symptoms, or Addison's disease which also has non-cf-like symptoms.) If the above poster has a repeat positive sweat test result despite her Addison's being controlled, to accompany her cf-like symptoms which have gotten much worse since discontinuing her cf-specific treatments + two mutations, it's going to be awfully hard to completely rule out CF for her, despite the negative NPD, in my opinion. But her situation is inordinately rare... most people with an iffy cf dx don't have genetic results ALSO pointing to a cf dx but turn out to have a completely separate disease to explain their symptoms.
<br />
<br />Most people in the diagnostic process won't end up with an extremely complicated course.
<br />Typical tests: The whole picture has to be considered; no one test or factor in isolation can give you comprehensive answers.
<br />Results of newborn screening, if available and family history.
<br />Sweat tests, repeated a couple times if needed.
<br />Genetic tests- gold standard being sequencing+deletions and duplications, not just a panel test. Genetic testing of any kind can confirm a dx but cannot rule it out with 100% certainty, since there is always the chance that one can have a mutation that is not caught on the test (certain parts of the gene are not examined, etc.)
<br />Lab tests like sputum culture, xray/ct scan, fecal fat/elastase for pancreatic insufficiency etc to see if there are results consistent with CF
<br />The hx- what is going on with the child and how do they respond to treatment? Do they improve with treatments that are tailored for one with cf?
<br />
<br />NPD is done much more rarely and is only available at a few centers. Technically, it should also be repeated but I don't hear of this often being done.
 
J

JennifersHope

New member
Yes, going by me is not a good idea at all. Even National Jewish which is the top pulmonary hospital in the country is totally stumped by me and has never seen a case like mine. I am a rare bird and it looks like I will be mapping out the Q13300E mutation myself.

I have a feeling we will be learning more in the years to come, For now I am doing some CF treatments but they are treatments that are not exclusive to CF. I have started doing Mucyomist and that seems to have helped me a bit. Plus I am on zithromax daily, and a few other inhalers. We are not sure what is going on with me but again, after 10 years, they are pretty comfortable saying NO CF, in site of my other symptoms. We will get to the bottom of this yet.
 
J

JennifersHope

New member
Yes, going by me is not a good idea at all. Even National Jewish which is the top pulmonary hospital in the country is totally stumped by me and has never seen a case like mine. I am a rare bird and it looks like I will be mapping out the Q13300E mutation myself.

I have a feeling we will be learning more in the years to come, For now I am doing some CF treatments but they are treatments that are not exclusive to CF. I have started doing Mucyomist and that seems to have helped me a bit. Plus I am on zithromax daily, and a few other inhalers. We are not sure what is going on with me but again, after 10 years, they are pretty comfortable saying NO CF, in site of my other symptoms. We will get to the bottom of this yet.
 
J

JennifersHope

New member
Yes, going by me is not a good idea at all. Even National Jewish which is the top pulmonary hospital in the country is totally stumped by me and has never seen a case like mine. I am a rare bird and it looks like I will be mapping out the Q13300E mutation myself.
<br />
<br />I have a feeling we will be learning more in the years to come, For now I am doing some CF treatments but they are treatments that are not exclusive to CF. I have started doing Mucyomist and that seems to have helped me a bit. Plus I am on zithromax daily, and a few other inhalers. We are not sure what is going on with me but again, after 10 years, they are pretty comfortable saying NO CF, in site of my other symptoms. We will get to the bottom of this yet.
 
M

mom2owen

New member
Amy, I just wanted to say that you are not alone. I know how hard it is and you need to know that you bring hope to moms like me dealing with the same issues you have with your precious kids. It is because of you that many of us have learned that there is a sneaky side to CF and without your help and support, I would be even more lost than I feel now. I hear you on the lying awake at night worrying. If you ever need any support, I am here.

Harriett, I had a couple of thoughts about your ideas. I really appreciate your responses. IME, doctors are not always good at keeping up to date on the latest information regarding diagnosis. Every one we have seen has based their impressions on the sweat tests (values of 60+ being positive) and straight analysis of known mutations. There has been zero regard to what people here talk about with presentation of symptoms if the gene test and sweats are not glaring. We got a congratulations your child doesn't have CF letter when the Ambry results came back even though we are still wondering about those combinations. Which leads to my next thought:
<div class="FTQUOTE"><begin quote>The hx- what is going on with the child and how do they respond to treatment? Do they improve with treatments that are tailored for one with cf?
</end quote></div>
Again, with my son, doctors have not given many of the typical treatments for CF because of a lack of diagnosis. We do CPT, cultures and aggressive-ish antibiotics along with Creon but other things are not accepted as options for us due to sweat and gene testing results. For example, we do albuterol nebs before CPT but many people who know my son have suggested HTS to help loosen the mucus he cannot seem to get rid of. None of the CF doctors here will give that to us. So, I agree that logically people could obtain a diagnosis with enough borderline test results, and even more importantly to me, positive response to treatment, but the reality is that the wall often goes up and refusal to address what could be done for some patients occurs. Of course these are the same doctors who have not read up on recent developments, apparently, because there is still insistence on their part that you cannot have sweats in the 30's and have CF. Maybe we have a lot of bad luck and others don't experience this but it is what makes me feel like beating my head against the wall because we know Owen needs as much help as he can get but the lack of diagnosis is getting in the way.
We will keep trying, I am finding courage by being at this site and in knowing there are other people in this grey zone but I absolutely understand Amy's fear/stress/frustrations. My dream is to find a doctor who says we will try things to see what works and then hope that that leads us closer to being able to name our evil. My biggest goal is to not wait until his damage is so severe that we regret not doing things earlier on to prevent the progression. My last thought on this is that we are considering traveling to another clinic that is more experienced with "atypical" CF. But that is a daunting adventure in and of itself. I am glad to hear more about NJ and would love any other suggestions.
 
M

mom2owen

New member
Amy, I just wanted to say that you are not alone. I know how hard it is and you need to know that you bring hope to moms like me dealing with the same issues you have with your precious kids. It is because of you that many of us have learned that there is a sneaky side to CF and without your help and support, I would be even more lost than I feel now. I hear you on the lying awake at night worrying. If you ever need any support, I am here.

Harriett, I had a couple of thoughts about your ideas. I really appreciate your responses. IME, doctors are not always good at keeping up to date on the latest information regarding diagnosis. Every one we have seen has based their impressions on the sweat tests (values of 60+ being positive) and straight analysis of known mutations. There has been zero regard to what people here talk about with presentation of symptoms if the gene test and sweats are not glaring. We got a congratulations your child doesn't have CF letter when the Ambry results came back even though we are still wondering about those combinations. Which leads to my next thought:
<div class="FTQUOTE"><begin quote>The hx- what is going on with the child and how do they respond to treatment? Do they improve with treatments that are tailored for one with cf?
</end quote>
Again, with my son, doctors have not given many of the typical treatments for CF because of a lack of diagnosis. We do CPT, cultures and aggressive-ish antibiotics along with Creon but other things are not accepted as options for us due to sweat and gene testing results. For example, we do albuterol nebs before CPT but many people who know my son have suggested HTS to help loosen the mucus he cannot seem to get rid of. None of the CF doctors here will give that to us. So, I agree that logically people could obtain a diagnosis with enough borderline test results, and even more importantly to me, positive response to treatment, but the reality is that the wall often goes up and refusal to address what could be done for some patients occurs. Of course these are the same doctors who have not read up on recent developments, apparently, because there is still insistence on their part that you cannot have sweats in the 30's and have CF. Maybe we have a lot of bad luck and others don't experience this but it is what makes me feel like beating my head against the wall because we know Owen needs as much help as he can get but the lack of diagnosis is getting in the way.
We will keep trying, I am finding courage by being at this site and in knowing there are other people in this grey zone but I absolutely understand Amy's fear/stress/frustrations. My dream is to find a doctor who says we will try things to see what works and then hope that that leads us closer to being able to name our evil. My biggest goal is to not wait until his damage is so severe that we regret not doing things earlier on to prevent the progression. My last thought on this is that we are considering traveling to another clinic that is more experienced with "atypical" CF. But that is a daunting adventure in and of itself. I am glad to hear more about NJ and would love any other suggestions.
 
M

mom2owen

New member
Amy, I just wanted to say that you are not alone. I know how hard it is and you need to know that you bring hope to moms like me dealing with the same issues you have with your precious kids. It is because of you that many of us have learned that there is a sneaky side to CF and without your help and support, I would be even more lost than I feel now. I hear you on the lying awake at night worrying. If you ever need any support, I am here.
<br />
<br />Harriett, I had a couple of thoughts about your ideas. I really appreciate your responses. IME, doctors are not always good at keeping up to date on the latest information regarding diagnosis. Every one we have seen has based their impressions on the sweat tests (values of 60+ being positive) and straight analysis of known mutations. There has been zero regard to what people here talk about with presentation of symptoms if the gene test and sweats are not glaring. We got a congratulations your child doesn't have CF letter when the Ambry results came back even though we are still wondering about those combinations. Which leads to my next thought:
<br /><div class="FTQUOTE"><begin quote>The hx- what is going on with the child and how do they respond to treatment? Do they improve with treatments that are tailored for one with cf?
<br /></end quote>
<br />Again, with my son, doctors have not given many of the typical treatments for CF because of a lack of diagnosis. We do CPT, cultures and aggressive-ish antibiotics along with Creon but other things are not accepted as options for us due to sweat and gene testing results. For example, we do albuterol nebs before CPT but many people who know my son have suggested HTS to help loosen the mucus he cannot seem to get rid of. None of the CF doctors here will give that to us. So, I agree that logically people could obtain a diagnosis with enough borderline test results, and even more importantly to me, positive response to treatment, but the reality is that the wall often goes up and refusal to address what could be done for some patients occurs. Of course these are the same doctors who have not read up on recent developments, apparently, because there is still insistence on their part that you cannot have sweats in the 30's and have CF. Maybe we have a lot of bad luck and others don't experience this but it is what makes me feel like beating my head against the wall because we know Owen needs as much help as he can get but the lack of diagnosis is getting in the way.
<br />We will keep trying, I am finding courage by being at this site and in knowing there are other people in this grey zone but I absolutely understand Amy's fear/stress/frustrations. My dream is to find a doctor who says we will try things to see what works and then hope that that leads us closer to being able to name our evil. My biggest goal is to not wait until his damage is so severe that we regret not doing things earlier on to prevent the progression. My last thought on this is that we are considering traveling to another clinic that is more experienced with "atypical" CF. But that is a daunting adventure in and of itself. I am glad to hear more about NJ and would love any other suggestions.
 
A

amyr

New member
This thread makes me sad for all of those who are in my shoes because it's really such a hard spot to be in. I am not medically trained by any means, but I have read journal after journal on this subject. What I have learned is that there is just so much we still need to learn about this topic.

I have seen far too many doctors to count. The one common question with every doctor has been "have you children ever been tested for CF?". Thank God in 2008 after one of the countless hospital stays with one of my children we were referred to a Pulmonologist, that despite my sons negative sweat test 11 years prior, immediately sent all three for sweats. Two were in the high 20's and one was in the 40's. Finally, after 11 years (at the time) of a pure living H*ll we figured out what was wrong. My kids have Atypical CF, not Classic CF, not CFTR metabolic Syndrome, not just bad allergies and asthma, but Atypical CF. As of today it does not have a ICD-9 code so they are coded as CF and we are fortunate enough to get all of the care, meds and treatments that we need. There are so many others out there, however, that can't!!! This is what I am trying to change. . I don't believe my kids have" Classic CF". At times (more often than not) they mimic the symptoms of classic CF, but to date, their gene mutations are considered "non disease causing". This leaves us in the "grey area".

Their phenotype is highly suggestive of CF yet their genotype says different hence "Atypical CF". So many diseases out there occur on a spectrum, IMO, so does CF. There are so many other contributing factors such as modifier genes and environment that can't be dismissed when examining this topic. I have my theories as to my children, but again, I am not medically trained so I won't share.

I hope for the sake of my family and so many others families like mine that someday in the near future we can all have peace of mind in knowing what to call it and how to treat it.
 
A

amyr

New member
This thread makes me sad for all of those who are in my shoes because it's really such a hard spot to be in. I am not medically trained by any means, but I have read journal after journal on this subject. What I have learned is that there is just so much we still need to learn about this topic.

I have seen far too many doctors to count. The one common question with every doctor has been "have you children ever been tested for CF?". Thank God in 2008 after one of the countless hospital stays with one of my children we were referred to a Pulmonologist, that despite my sons negative sweat test 11 years prior, immediately sent all three for sweats. Two were in the high 20's and one was in the 40's. Finally, after 11 years (at the time) of a pure living H*ll we figured out what was wrong. My kids have Atypical CF, not Classic CF, not CFTR metabolic Syndrome, not just bad allergies and asthma, but Atypical CF. As of today it does not have a ICD-9 code so they are coded as CF and we are fortunate enough to get all of the care, meds and treatments that we need. There are so many others out there, however, that can't!!! This is what I am trying to change. . I don't believe my kids have" Classic CF". At times (more often than not) they mimic the symptoms of classic CF, but to date, their gene mutations are considered "non disease causing". This leaves us in the "grey area".

Their phenotype is highly suggestive of CF yet their genotype says different hence "Atypical CF". So many diseases out there occur on a spectrum, IMO, so does CF. There are so many other contributing factors such as modifier genes and environment that can't be dismissed when examining this topic. I have my theories as to my children, but again, I am not medically trained so I won't share.

I hope for the sake of my family and so many others families like mine that someday in the near future we can all have peace of mind in knowing what to call it and how to treat it.
 
A

amyr

New member
This thread makes me sad for all of those who are in my shoes because it's really such a hard spot to be in. I am not medically trained by any means, but I have read journal after journal on this subject. What I have learned is that there is just so much we still need to learn about this topic.
<br />
<br />I have seen far too many doctors to count. The one common question with every doctor has been "have you children ever been tested for CF?". Thank God in 2008 after one of the countless hospital stays with one of my children we were referred to a Pulmonologist, that despite my sons negative sweat test 11 years prior, immediately sent all three for sweats. Two were in the high 20's and one was in the 40's. Finally, after 11 years (at the time) of a pure living H*ll we figured out what was wrong. My kids have Atypical CF, not Classic CF, not CFTR metabolic Syndrome, not just bad allergies and asthma, but Atypical CF. As of today it does not have a ICD-9 code so they are coded as CF and we are fortunate enough to get all of the care, meds and treatments that we need. There are so many others out there, however, that can't!!! This is what I am trying to change. . I don't believe my kids have" Classic CF". At times (more often than not) they mimic the symptoms of classic CF, but to date, their gene mutations are considered "non disease causing". This leaves us in the "grey area".
<br />
<br />Their phenotype is highly suggestive of CF yet their genotype says different hence "Atypical CF". So many diseases out there occur on a spectrum, IMO, so does CF. There are so many other contributing factors such as modifier genes and environment that can't be dismissed when examining this topic. I have my theories as to my children, but again, I am not medically trained so I won't share.
<br />
<br />I hope for the sake of my family and so many others families like mine that someday in the near future we can all have peace of mind in knowing what to call it and how to treat it.
<br />
 
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