Is Atypical CF really all that uncommon?

S

Sevenstars

New member
Well, I'm glad someone finally said what I've been thinking all along. Thanks NoExcuses. I said something similar, and ... much nicer ... in the families forum and got jumped all over for saying someone's little snowflake had CF. If you read that forum, incidentally, you'd start to wonder if we're catering to a whole new disease or something here. <img src="i/expressions/face-icon-small-tongue.gif" border="0">

Anyway, I didn't press it further because I think there are some people that genuinely do have nonclassical CF mutations - and I don't just mean they have nonsense mutations. I've looked into this because I really hate being wrong on a forum, and apparently there is a small sector of people that possess 1 CF gene and 1 "messed up but not CF gene" that sometimes presents CF like illness. These people would probably have a good case for calling their disease "atypical" but sadly the general trend seems to be calling a mild disease atypical, and that's just wrong. But, this is a forum, so I'm not exactly going to ask everyone's genotype here to evaluate it's "CF-ness". I would just hope that the new guys here don't get lulled into nice sounding names because they are currently healthy.

Lots and lots of people here (as was already mentioned ad nauseum) were diagnosed very late, or did not get symptoms til very late. It is foolhardy to be passive in treatment, however, assuming that good health now means good health forever.

Anyway, I'm just starting to repeat what's been said already... check out this article if you want to read more about the "not quite genetically CF" disease I was referring to.
<a target=_blank class=ftalternatingbarlinklarge href="http://www.thetech.org/genetics/ask.php?id=146
">http://www.thetech.org/genetics/ask.php?id=146
</a>
Oh and the article mentions the sweat test being the "hallmark" of CF diagnosis which I found kind of an iffy statement given what we know about false negatives, but the genetic stuff looks true to me.
 
S

Sevenstars

New member
Well, I'm glad someone finally said what I've been thinking all along. Thanks NoExcuses. I said something similar, and ... much nicer ... in the families forum and got jumped all over for saying someone's little snowflake had CF. If you read that forum, incidentally, you'd start to wonder if we're catering to a whole new disease or something here. <img src="i/expressions/face-icon-small-tongue.gif" border="0">

Anyway, I didn't press it further because I think there are some people that genuinely do have nonclassical CF mutations - and I don't just mean they have nonsense mutations. I've looked into this because I really hate being wrong on a forum, and apparently there is a small sector of people that possess 1 CF gene and 1 "messed up but not CF gene" that sometimes presents CF like illness. These people would probably have a good case for calling their disease "atypical" but sadly the general trend seems to be calling a mild disease atypical, and that's just wrong. But, this is a forum, so I'm not exactly going to ask everyone's genotype here to evaluate it's "CF-ness". I would just hope that the new guys here don't get lulled into nice sounding names because they are currently healthy.

Lots and lots of people here (as was already mentioned ad nauseum) were diagnosed very late, or did not get symptoms til very late. It is foolhardy to be passive in treatment, however, assuming that good health now means good health forever.

Anyway, I'm just starting to repeat what's been said already... check out this article if you want to read more about the "not quite genetically CF" disease I was referring to.
<a target=_blank class=ftalternatingbarlinklarge href="http://www.thetech.org/genetics/ask.php?id=146
">http://www.thetech.org/genetics/ask.php?id=146
</a>
Oh and the article mentions the sweat test being the "hallmark" of CF diagnosis which I found kind of an iffy statement given what we know about false negatives, but the genetic stuff looks true to me.
 
S

Sevenstars

New member
Well, I'm glad someone finally said what I've been thinking all along. Thanks NoExcuses. I said something similar, and ... much nicer ... in the families forum and got jumped all over for saying someone's little snowflake had CF. If you read that forum, incidentally, you'd start to wonder if we're catering to a whole new disease or something here. <img src="i/expressions/face-icon-small-tongue.gif" border="0">

Anyway, I didn't press it further because I think there are some people that genuinely do have nonclassical CF mutations - and I don't just mean they have nonsense mutations. I've looked into this because I really hate being wrong on a forum, and apparently there is a small sector of people that possess 1 CF gene and 1 "messed up but not CF gene" that sometimes presents CF like illness. These people would probably have a good case for calling their disease "atypical" but sadly the general trend seems to be calling a mild disease atypical, and that's just wrong. But, this is a forum, so I'm not exactly going to ask everyone's genotype here to evaluate it's "CF-ness". I would just hope that the new guys here don't get lulled into nice sounding names because they are currently healthy.

Lots and lots of people here (as was already mentioned ad nauseum) were diagnosed very late, or did not get symptoms til very late. It is foolhardy to be passive in treatment, however, assuming that good health now means good health forever.

Anyway, I'm just starting to repeat what's been said already... check out this article if you want to read more about the "not quite genetically CF" disease I was referring to.
<a target=_blank class=ftalternatingbarlinklarge href="http://www.thetech.org/genetics/ask.php?id=146
">http://www.thetech.org/genetics/ask.php?id=146
</a>
Oh and the article mentions the sweat test being the "hallmark" of CF diagnosis which I found kind of an iffy statement given what we know about false negatives, but the genetic stuff looks true to me.
 
S

Sevenstars

New member
Well, I'm glad someone finally said what I've been thinking all along. Thanks NoExcuses. I said something similar, and ... much nicer ... in the families forum and got jumped all over for saying someone's little snowflake had CF. If you read that forum, incidentally, you'd start to wonder if we're catering to a whole new disease or something here. <img src="i/expressions/face-icon-small-tongue.gif" border="0">

Anyway, I didn't press it further because I think there are some people that genuinely do have nonclassical CF mutations - and I don't just mean they have nonsense mutations. I've looked into this because I really hate being wrong on a forum, and apparently there is a small sector of people that possess 1 CF gene and 1 "messed up but not CF gene" that sometimes presents CF like illness. These people would probably have a good case for calling their disease "atypical" but sadly the general trend seems to be calling a mild disease atypical, and that's just wrong. But, this is a forum, so I'm not exactly going to ask everyone's genotype here to evaluate it's "CF-ness". I would just hope that the new guys here don't get lulled into nice sounding names because they are currently healthy.

Lots and lots of people here (as was already mentioned ad nauseum) were diagnosed very late, or did not get symptoms til very late. It is foolhardy to be passive in treatment, however, assuming that good health now means good health forever.

Anyway, I'm just starting to repeat what's been said already... check out this article if you want to read more about the "not quite genetically CF" disease I was referring to.
<a target=_blank class=ftalternatingbarlinklarge href="http://www.thetech.org/genetics/ask.php?id=146
">http://www.thetech.org/genetics/ask.php?id=146
</a>
Oh and the article mentions the sweat test being the "hallmark" of CF diagnosis which I found kind of an iffy statement given what we know about false negatives, but the genetic stuff looks true to me.
 
S

Sevenstars

New member
Well, I'm glad someone finally said what I've been thinking all along. Thanks NoExcuses. I said something similar, and ... much nicer ... in the families forum and got jumped all over for saying someone's little snowflake had CF. If you read that forum, incidentally, you'd start to wonder if we're catering to a whole new disease or something here. <img src="i/expressions/face-icon-small-tongue.gif" border="0">
<br />
<br />Anyway, I didn't press it further because I think there are some people that genuinely do have nonclassical CF mutations - and I don't just mean they have nonsense mutations. I've looked into this because I really hate being wrong on a forum, and apparently there is a small sector of people that possess 1 CF gene and 1 "messed up but not CF gene" that sometimes presents CF like illness. These people would probably have a good case for calling their disease "atypical" but sadly the general trend seems to be calling a mild disease atypical, and that's just wrong. But, this is a forum, so I'm not exactly going to ask everyone's genotype here to evaluate it's "CF-ness". I would just hope that the new guys here don't get lulled into nice sounding names because they are currently healthy.
<br />
<br />Lots and lots of people here (as was already mentioned ad nauseum) were diagnosed very late, or did not get symptoms til very late. It is foolhardy to be passive in treatment, however, assuming that good health now means good health forever.
<br />
<br />Anyway, I'm just starting to repeat what's been said already... check out this article if you want to read more about the "not quite genetically CF" disease I was referring to.
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://www.thetech.org/genetics/ask.php?id=146
">http://www.thetech.org/genetics/ask.php?id=146
</a><br />
<br />Oh and the article mentions the sweat test being the "hallmark" of CF diagnosis which I found kind of an iffy statement given what we know about false negatives, but the genetic stuff looks true to me.
 
H

hopesiris

Guest
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Sevenstars</b></i>



...there are some people that genuinely do have nonclassical CF mutations - and I don't just mean they have nonsense mutations. I've looked into this because I really hate being wrong on a forum, and apparently there is a small sector of people that possess 1 CF gene and 1 "messed up but not CF gene" that sometimes presents CF like illness. These people would probably have a good case for calling their disease "atypical"...



That is the case for me. 5T with 12 repeats is a variant and associated with CAVD and may cause mild to moderate CF. My Ambry results state that and also that this combination is not usually associated with classic CF. The variant acts like a mild to moderate mutation when combined with a known severe mutation on the opposite chromosome. A small percentage of patients only have CAVD and the majority have mild to moderate CF.
 
H

hopesiris

Guest
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Sevenstars</b></i>



...there are some people that genuinely do have nonclassical CF mutations - and I don't just mean they have nonsense mutations. I've looked into this because I really hate being wrong on a forum, and apparently there is a small sector of people that possess 1 CF gene and 1 "messed up but not CF gene" that sometimes presents CF like illness. These people would probably have a good case for calling their disease "atypical"...



That is the case for me. 5T with 12 repeats is a variant and associated with CAVD and may cause mild to moderate CF. My Ambry results state that and also that this combination is not usually associated with classic CF. The variant acts like a mild to moderate mutation when combined with a known severe mutation on the opposite chromosome. A small percentage of patients only have CAVD and the majority have mild to moderate CF.
 
H

hopesiris

Guest
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Sevenstars</b></i>



...there are some people that genuinely do have nonclassical CF mutations - and I don't just mean they have nonsense mutations. I've looked into this because I really hate being wrong on a forum, and apparently there is a small sector of people that possess 1 CF gene and 1 "messed up but not CF gene" that sometimes presents CF like illness. These people would probably have a good case for calling their disease "atypical"...



That is the case for me. 5T with 12 repeats is a variant and associated with CAVD and may cause mild to moderate CF. My Ambry results state that and also that this combination is not usually associated with classic CF. The variant acts like a mild to moderate mutation when combined with a known severe mutation on the opposite chromosome. A small percentage of patients only have CAVD and the majority have mild to moderate CF.
 
H

hopesiris

Guest
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Sevenstars</b></i>



...there are some people that genuinely do have nonclassical CF mutations - and I don't just mean they have nonsense mutations. I've looked into this because I really hate being wrong on a forum, and apparently there is a small sector of people that possess 1 CF gene and 1 "messed up but not CF gene" that sometimes presents CF like illness. These people would probably have a good case for calling their disease "atypical"...



That is the case for me. 5T with 12 repeats is a variant and associated with CAVD and may cause mild to moderate CF. My Ambry results state that and also that this combination is not usually associated with classic CF. The variant acts like a mild to moderate mutation when combined with a known severe mutation on the opposite chromosome. A small percentage of patients only have CAVD and the majority have mild to moderate CF.
 
H

hopesiris

Guest
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Sevenstars</b></i>
<br />
<br />
<br />
<br />...there are some people that genuinely do have nonclassical CF mutations - and I don't just mean they have nonsense mutations. I've looked into this because I really hate being wrong on a forum, and apparently there is a small sector of people that possess 1 CF gene and 1 "messed up but not CF gene" that sometimes presents CF like illness. These people would probably have a good case for calling their disease "atypical"...
<br />
<br />
<br />
<br />That is the case for me. 5T with 12 repeats is a variant and associated with CAVD and may cause mild to moderate CF. My Ambry results state that and also that this combination is not usually associated with classic CF. The variant acts like a mild to moderate mutation when combined with a known severe mutation on the opposite chromosome. A small percentage of patients only have CAVD and the majority have mild to moderate CF.
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<br />
 
A

Alyssa

New member
I might be one of those people that NoExcuses (Amy) is referring to, since I do refer to my kids as Mild-Variant, A-Typical cases -- but I think my view of it is different that the "denial phenomena" that she and others are now referring to...if you have a lot of time on your hands, feel free to read through the rest of this post and you will see why I feel that way :)

There are three different things now being discussed and I don't think they necessarily go hand in hand, but often times people lump them together when making assumptions and stating their opinions.


Mild Variant
Mild Case
A-Typical


Yes, I refer to my kids as Mild Variant. Based on the classifications of the CF genes (I through V) our doctor has informed us that class 4 and 5 genes are considered "Mild Variant" It is my understanding that these classes of genes usually allow the body to function closer to normal so that the severe problems with lung infections and pancreatic insufficiency occur far less often than with those with class 1 2 or 3 gene types.

*************************
Class I: Defective protein production with premature termination of CFTR production. Class 1 mutations produce few or no functioning CFTR chloride channels

Class II: Defective trafficking of CFTR so that it does not reach the apical surface membrane where it is intended to function

Class III: Defective regulation of CFTR even though it is able to reach the apical cell surface

Class IV: CFTR reaches the apical surface but conduction through the channel is defective

Class V: Associated with reduced synthesis of functional CFTR

***********************

Mild case
If you are quoting information based on lung function numbers this is true and accurate statement at <b>this point in time</b>... these numbers are quantifiable...doctors refer to them... we all know that there is a chart (I don't have it at my fingertips) but it does reflect lung function of mild, moderate & severe....it is meant to classify lung function only - not to be an indicator of someone's entire "case" of CF. If your lung function numbers are in the moderate range then you might be referred to or refer to yourself as having a moderate case <b>at that point and time...with regard to lung function.....that's all... </b>don't read any more or less into it -- yes of course we all know it can change in a heartbeat and more than likely will change over time, but at this point in a persons life, they can have mild to no measurable lung function loss.

About the A-Typical stuff. There again, <b>I think people are misunderstanding the meaning behind the term and people are either hearing their doctors words selectively or the doctors are misleading the parents/patient when it is presented.</b> A-Typical is referring to the presentation of symptoms -- it just means that when a person presents to a doctor with "what's wrong with me" the doctor will not see all the classic CF symptoms screaming out "CF diagnosis" Yes, we all know that no two CF cases are exactly alike and people have far different presentations and sypmtoms to deal with but when it come to presentation, many people present with "classic sypmtoms" -- pancreatic insufficiency, lung infections, CFRD, sinus infections, salty skin, failure to thrive etc. If a doctor notices these types of symptoms and <b>confirms a CF diagnosis then the person is told they have CF.</b> But in the case of people like my kids, marcijo and others on this site... the doctor only sees a couple of symptoms like sinus problems or infertility and then they get the genetic confirmation of CF the <b>doctors call this an A-Typical CF case.</b>.. why? Because the presentation of the sypmtoms was not the classic presentation...that's all...it doesn't mean anything more than that! <b>It never once crossed my mind to not have my kids see a CF doctor every three months.</b>

So, in short, based on the info above, I can state that:

1) My kids are mild variant, because of having a class IV gene type of R117H

2) According to lung function tests, a person could refer to my kids as a mild case.

3) My kids are A-Typical, because they did not present with classic CF sypmtoms at the time of diagnosis

<u>Does any of this mean I'm in denial?</u> No, I don't think so.

<u>Does it mean others might be in denial?</u> Possibly...it depends on what they were told and how they interpreted that information.

<u>Is this a reliant subject to be discussing?</u> Absolutely! Sharing information and learning different points of view is beneficial to all of us! And yes, I think the doctors should be selective with their choice of words and presentation at time of diagnosis, but they also have an awful lot to juggle at that time -- they need to make the parent/patient aware of the seriousness of the disease but at the same time need to provide hope and inspire confidence in the advancements and benefits to proper care and treatment.
 
A

Alyssa

New member
I might be one of those people that NoExcuses (Amy) is referring to, since I do refer to my kids as Mild-Variant, A-Typical cases -- but I think my view of it is different that the "denial phenomena" that she and others are now referring to...if you have a lot of time on your hands, feel free to read through the rest of this post and you will see why I feel that way :)

There are three different things now being discussed and I don't think they necessarily go hand in hand, but often times people lump them together when making assumptions and stating their opinions.


Mild Variant
Mild Case
A-Typical


Yes, I refer to my kids as Mild Variant. Based on the classifications of the CF genes (I through V) our doctor has informed us that class 4 and 5 genes are considered "Mild Variant" It is my understanding that these classes of genes usually allow the body to function closer to normal so that the severe problems with lung infections and pancreatic insufficiency occur far less often than with those with class 1 2 or 3 gene types.

*************************
Class I: Defective protein production with premature termination of CFTR production. Class 1 mutations produce few or no functioning CFTR chloride channels

Class II: Defective trafficking of CFTR so that it does not reach the apical surface membrane where it is intended to function

Class III: Defective regulation of CFTR even though it is able to reach the apical cell surface

Class IV: CFTR reaches the apical surface but conduction through the channel is defective

Class V: Associated with reduced synthesis of functional CFTR

***********************

Mild case
If you are quoting information based on lung function numbers this is true and accurate statement at <b>this point in time</b>... these numbers are quantifiable...doctors refer to them... we all know that there is a chart (I don't have it at my fingertips) but it does reflect lung function of mild, moderate & severe....it is meant to classify lung function only - not to be an indicator of someone's entire "case" of CF. If your lung function numbers are in the moderate range then you might be referred to or refer to yourself as having a moderate case <b>at that point and time...with regard to lung function.....that's all... </b>don't read any more or less into it -- yes of course we all know it can change in a heartbeat and more than likely will change over time, but at this point in a persons life, they can have mild to no measurable lung function loss.

About the A-Typical stuff. There again, <b>I think people are misunderstanding the meaning behind the term and people are either hearing their doctors words selectively or the doctors are misleading the parents/patient when it is presented.</b> A-Typical is referring to the presentation of symptoms -- it just means that when a person presents to a doctor with "what's wrong with me" the doctor will not see all the classic CF symptoms screaming out "CF diagnosis" Yes, we all know that no two CF cases are exactly alike and people have far different presentations and sypmtoms to deal with but when it come to presentation, many people present with "classic sypmtoms" -- pancreatic insufficiency, lung infections, CFRD, sinus infections, salty skin, failure to thrive etc. If a doctor notices these types of symptoms and <b>confirms a CF diagnosis then the person is told they have CF.</b> But in the case of people like my kids, marcijo and others on this site... the doctor only sees a couple of symptoms like sinus problems or infertility and then they get the genetic confirmation of CF the <b>doctors call this an A-Typical CF case.</b>.. why? Because the presentation of the sypmtoms was not the classic presentation...that's all...it doesn't mean anything more than that! <b>It never once crossed my mind to not have my kids see a CF doctor every three months.</b>

So, in short, based on the info above, I can state that:

1) My kids are mild variant, because of having a class IV gene type of R117H

2) According to lung function tests, a person could refer to my kids as a mild case.

3) My kids are A-Typical, because they did not present with classic CF sypmtoms at the time of diagnosis

<u>Does any of this mean I'm in denial?</u> No, I don't think so.

<u>Does it mean others might be in denial?</u> Possibly...it depends on what they were told and how they interpreted that information.

<u>Is this a reliant subject to be discussing?</u> Absolutely! Sharing information and learning different points of view is beneficial to all of us! And yes, I think the doctors should be selective with their choice of words and presentation at time of diagnosis, but they also have an awful lot to juggle at that time -- they need to make the parent/patient aware of the seriousness of the disease but at the same time need to provide hope and inspire confidence in the advancements and benefits to proper care and treatment.
 
A

Alyssa

New member
I might be one of those people that NoExcuses (Amy) is referring to, since I do refer to my kids as Mild-Variant, A-Typical cases -- but I think my view of it is different that the "denial phenomena" that she and others are now referring to...if you have a lot of time on your hands, feel free to read through the rest of this post and you will see why I feel that way :)

There are three different things now being discussed and I don't think they necessarily go hand in hand, but often times people lump them together when making assumptions and stating their opinions.


Mild Variant
Mild Case
A-Typical


Yes, I refer to my kids as Mild Variant. Based on the classifications of the CF genes (I through V) our doctor has informed us that class 4 and 5 genes are considered "Mild Variant" It is my understanding that these classes of genes usually allow the body to function closer to normal so that the severe problems with lung infections and pancreatic insufficiency occur far less often than with those with class 1 2 or 3 gene types.

*************************
Class I: Defective protein production with premature termination of CFTR production. Class 1 mutations produce few or no functioning CFTR chloride channels

Class II: Defective trafficking of CFTR so that it does not reach the apical surface membrane where it is intended to function

Class III: Defective regulation of CFTR even though it is able to reach the apical cell surface

Class IV: CFTR reaches the apical surface but conduction through the channel is defective

Class V: Associated with reduced synthesis of functional CFTR

***********************

Mild case
If you are quoting information based on lung function numbers this is true and accurate statement at <b>this point in time</b>... these numbers are quantifiable...doctors refer to them... we all know that there is a chart (I don't have it at my fingertips) but it does reflect lung function of mild, moderate & severe....it is meant to classify lung function only - not to be an indicator of someone's entire "case" of CF. If your lung function numbers are in the moderate range then you might be referred to or refer to yourself as having a moderate case <b>at that point and time...with regard to lung function.....that's all... </b>don't read any more or less into it -- yes of course we all know it can change in a heartbeat and more than likely will change over time, but at this point in a persons life, they can have mild to no measurable lung function loss.

About the A-Typical stuff. There again, <b>I think people are misunderstanding the meaning behind the term and people are either hearing their doctors words selectively or the doctors are misleading the parents/patient when it is presented.</b> A-Typical is referring to the presentation of symptoms -- it just means that when a person presents to a doctor with "what's wrong with me" the doctor will not see all the classic CF symptoms screaming out "CF diagnosis" Yes, we all know that no two CF cases are exactly alike and people have far different presentations and sypmtoms to deal with but when it come to presentation, many people present with "classic sypmtoms" -- pancreatic insufficiency, lung infections, CFRD, sinus infections, salty skin, failure to thrive etc. If a doctor notices these types of symptoms and <b>confirms a CF diagnosis then the person is told they have CF.</b> But in the case of people like my kids, marcijo and others on this site... the doctor only sees a couple of symptoms like sinus problems or infertility and then they get the genetic confirmation of CF the <b>doctors call this an A-Typical CF case.</b>.. why? Because the presentation of the sypmtoms was not the classic presentation...that's all...it doesn't mean anything more than that! <b>It never once crossed my mind to not have my kids see a CF doctor every three months.</b>

So, in short, based on the info above, I can state that:

1) My kids are mild variant, because of having a class IV gene type of R117H

2) According to lung function tests, a person could refer to my kids as a mild case.

3) My kids are A-Typical, because they did not present with classic CF sypmtoms at the time of diagnosis

<u>Does any of this mean I'm in denial?</u> No, I don't think so.

<u>Does it mean others might be in denial?</u> Possibly...it depends on what they were told and how they interpreted that information.

<u>Is this a reliant subject to be discussing?</u> Absolutely! Sharing information and learning different points of view is beneficial to all of us! And yes, I think the doctors should be selective with their choice of words and presentation at time of diagnosis, but they also have an awful lot to juggle at that time -- they need to make the parent/patient aware of the seriousness of the disease but at the same time need to provide hope and inspire confidence in the advancements and benefits to proper care and treatment.
 
A

Alyssa

New member
I might be one of those people that NoExcuses (Amy) is referring to, since I do refer to my kids as Mild-Variant, A-Typical cases -- but I think my view of it is different that the "denial phenomena" that she and others are now referring to...if you have a lot of time on your hands, feel free to read through the rest of this post and you will see why I feel that way :)

There are three different things now being discussed and I don't think they necessarily go hand in hand, but often times people lump them together when making assumptions and stating their opinions.


Mild Variant
Mild Case
A-Typical


Yes, I refer to my kids as Mild Variant. Based on the classifications of the CF genes (I through V) our doctor has informed us that class 4 and 5 genes are considered "Mild Variant" It is my understanding that these classes of genes usually allow the body to function closer to normal so that the severe problems with lung infections and pancreatic insufficiency occur far less often than with those with class 1 2 or 3 gene types.

*************************
Class I: Defective protein production with premature termination of CFTR production. Class 1 mutations produce few or no functioning CFTR chloride channels

Class II: Defective trafficking of CFTR so that it does not reach the apical surface membrane where it is intended to function

Class III: Defective regulation of CFTR even though it is able to reach the apical cell surface

Class IV: CFTR reaches the apical surface but conduction through the channel is defective

Class V: Associated with reduced synthesis of functional CFTR

***********************

Mild case
If you are quoting information based on lung function numbers this is true and accurate statement at <b>this point in time</b>... these numbers are quantifiable...doctors refer to them... we all know that there is a chart (I don't have it at my fingertips) but it does reflect lung function of mild, moderate & severe....it is meant to classify lung function only - not to be an indicator of someone's entire "case" of CF. If your lung function numbers are in the moderate range then you might be referred to or refer to yourself as having a moderate case <b>at that point and time...with regard to lung function.....that's all... </b>don't read any more or less into it -- yes of course we all know it can change in a heartbeat and more than likely will change over time, but at this point in a persons life, they can have mild to no measurable lung function loss.

About the A-Typical stuff. There again, <b>I think people are misunderstanding the meaning behind the term and people are either hearing their doctors words selectively or the doctors are misleading the parents/patient when it is presented.</b> A-Typical is referring to the presentation of symptoms -- it just means that when a person presents to a doctor with "what's wrong with me" the doctor will not see all the classic CF symptoms screaming out "CF diagnosis" Yes, we all know that no two CF cases are exactly alike and people have far different presentations and sypmtoms to deal with but when it come to presentation, many people present with "classic sypmtoms" -- pancreatic insufficiency, lung infections, CFRD, sinus infections, salty skin, failure to thrive etc. If a doctor notices these types of symptoms and <b>confirms a CF diagnosis then the person is told they have CF.</b> But in the case of people like my kids, marcijo and others on this site... the doctor only sees a couple of symptoms like sinus problems or infertility and then they get the genetic confirmation of CF the <b>doctors call this an A-Typical CF case.</b>.. why? Because the presentation of the sypmtoms was not the classic presentation...that's all...it doesn't mean anything more than that! <b>It never once crossed my mind to not have my kids see a CF doctor every three months.</b>

So, in short, based on the info above, I can state that:

1) My kids are mild variant, because of having a class IV gene type of R117H

2) According to lung function tests, a person could refer to my kids as a mild case.

3) My kids are A-Typical, because they did not present with classic CF sypmtoms at the time of diagnosis

<u>Does any of this mean I'm in denial?</u> No, I don't think so.

<u>Does it mean others might be in denial?</u> Possibly...it depends on what they were told and how they interpreted that information.

<u>Is this a reliant subject to be discussing?</u> Absolutely! Sharing information and learning different points of view is beneficial to all of us! And yes, I think the doctors should be selective with their choice of words and presentation at time of diagnosis, but they also have an awful lot to juggle at that time -- they need to make the parent/patient aware of the seriousness of the disease but at the same time need to provide hope and inspire confidence in the advancements and benefits to proper care and treatment.
 
A

Alyssa

New member
I might be one of those people that NoExcuses (Amy) is referring to, since I do refer to my kids as Mild-Variant, A-Typical cases -- but I think my view of it is different that the "denial phenomena" that she and others are now referring to...if you have a lot of time on your hands, feel free to read through the rest of this post and you will see why I feel that way :)
<br />
<br />There are three different things now being discussed and I don't think they necessarily go hand in hand, but often times people lump them together when making assumptions and stating their opinions.
<br />
<br />
<br />Mild Variant
<br />Mild Case
<br />A-Typical
<br />
<br />
<br />Yes, I refer to my kids as Mild Variant. Based on the classifications of the CF genes (I through V) our doctor has informed us that class 4 and 5 genes are considered "Mild Variant" It is my understanding that these classes of genes usually allow the body to function closer to normal so that the severe problems with lung infections and pancreatic insufficiency occur far less often than with those with class 1 2 or 3 gene types.
<br />
<br />*************************
<br />Class I: Defective protein production with premature termination of CFTR production. Class 1 mutations produce few or no functioning CFTR chloride channels
<br />
<br />Class II: Defective trafficking of CFTR so that it does not reach the apical surface membrane where it is intended to function
<br />
<br />Class III: Defective regulation of CFTR even though it is able to reach the apical cell surface
<br />
<br />Class IV: CFTR reaches the apical surface but conduction through the channel is defective
<br />
<br />Class V: Associated with reduced synthesis of functional CFTR
<br />
<br />***********************
<br />
<br />Mild case
<br />If you are quoting information based on lung function numbers this is true and accurate statement at <b>this point in time</b>... these numbers are quantifiable...doctors refer to them... we all know that there is a chart (I don't have it at my fingertips) but it does reflect lung function of mild, moderate & severe....it is meant to classify lung function only - not to be an indicator of someone's entire "case" of CF. If your lung function numbers are in the moderate range then you might be referred to or refer to yourself as having a moderate case <b>at that point and time...with regard to lung function.....that's all... </b>don't read any more or less into it -- yes of course we all know it can change in a heartbeat and more than likely will change over time, but at this point in a persons life, they can have mild to no measurable lung function loss.
<br />
<br />About the A-Typical stuff. There again, <b>I think people are misunderstanding the meaning behind the term and people are either hearing their doctors words selectively or the doctors are misleading the parents/patient when it is presented.</b> A-Typical is referring to the presentation of symptoms -- it just means that when a person presents to a doctor with "what's wrong with me" the doctor will not see all the classic CF symptoms screaming out "CF diagnosis" Yes, we all know that no two CF cases are exactly alike and people have far different presentations and sypmtoms to deal with but when it come to presentation, many people present with "classic sypmtoms" -- pancreatic insufficiency, lung infections, CFRD, sinus infections, salty skin, failure to thrive etc. If a doctor notices these types of symptoms and <b>confirms a CF diagnosis then the person is told they have CF.</b> But in the case of people like my kids, marcijo and others on this site... the doctor only sees a couple of symptoms like sinus problems or infertility and then they get the genetic confirmation of CF the <b>doctors call this an A-Typical CF case.</b>.. why? Because the presentation of the sypmtoms was not the classic presentation...that's all...it doesn't mean anything more than that! <b>It never once crossed my mind to not have my kids see a CF doctor every three months.</b>
<br />
<br />So, in short, based on the info above, I can state that:
<br />
<br />1) My kids are mild variant, because of having a class IV gene type of R117H
<br />
<br />2) According to lung function tests, a person could refer to my kids as a mild case.
<br />
<br />3) My kids are A-Typical, because they did not present with classic CF sypmtoms at the time of diagnosis
<br />
<br /><u>Does any of this mean I'm in denial?</u> No, I don't think so.
<br />
<br /><u>Does it mean others might be in denial?</u> Possibly...it depends on what they were told and how they interpreted that information.
<br />
<br /><u>Is this a reliant subject to be discussing?</u> Absolutely! Sharing information and learning different points of view is beneficial to all of us! And yes, I think the doctors should be selective with their choice of words and presentation at time of diagnosis, but they also have an awful lot to juggle at that time -- they need to make the parent/patient aware of the seriousness of the disease but at the same time need to provide hope and inspire confidence in the advancements and benefits to proper care and treatment.
<br />
<br />
 
N

NoExcuses

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Alyssa</b></i>

I might be one of those people that NoExcuses (Amy) is referring to </end quote></div>


Actually Alyssa you aren't.

I've seen how proactive and educated you are on cF, so i don't think you're in denial in the least.....
 
N

NoExcuses

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Alyssa</b></i>

I might be one of those people that NoExcuses (Amy) is referring to </end quote></div>


Actually Alyssa you aren't.

I've seen how proactive and educated you are on cF, so i don't think you're in denial in the least.....
 
N

NoExcuses

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Alyssa</b></i>

I might be one of those people that NoExcuses (Amy) is referring to </end quote></div>


Actually Alyssa you aren't.

I've seen how proactive and educated you are on cF, so i don't think you're in denial in the least.....
 
N

NoExcuses

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Alyssa</b></i>

I might be one of those people that NoExcuses (Amy) is referring to </end quote>


Actually Alyssa you aren't.

I've seen how proactive and educated you are on cF, so i don't think you're in denial in the least.....
 
N

NoExcuses

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Alyssa</b></i>
<br />
<br />I might be one of those people that NoExcuses (Amy) is referring to </end quote>
<br />
<br />
<br />Actually Alyssa you aren't.
<br />
<br />I've seen how proactive and educated you are on cF, so i don't think you're in denial in the least.....
 
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