Is Atypical CF really all that uncommon?

[NYCLawGirl]

Wow, there are so many good and useful discussions going on in this forum right now! You guys all have wonderful opinions and perspectives, I'm so glad this topic was finally addressed.

Adding another perspective to the mix: I have actually had people tell me I must be doing something wrong because my CF is currently more severe, which has always irked me. I completely agree that "mild" CF is not a good term - there are "mild" stages to CF, but in the end it's ridiculous to use terms like that for a number of reasons. For one thing, I think it devalues the effort many "atypical" CFers put into maintaining their health. It can also interfere with compliance, etc. At the same time, I find it difficult to deal with when people assume that just because there are healthier CFers out there living into their 50s, 60s, and beyond that those of us who are struggling with the disease are doing something wrong. I am certainly not perfect, but I am compliant and I have always had wonderful doctors. I was diagnosed with CF at 6 weeks due to massive pneumonia and have been on therapy every single day since then. So while I would never devalue the efforts and achievements of those who live with the disease much longer with fewer complications, I think that to some extent the sword cuts both ways. Hopefully you guys don't think I'm just being hyper-sensitive here...I don't want a pity party, just pointing out the other side of the coin.

IMHO, since CF is a single name for a disease caused by a large number of different mutations, generalizations are beyond stupid. Life expectancy is beyond stupid. There are still children suffering and dying from this disease - children who, along with their parents, do everything right and fight incredibly hard. There are also people who, with equal effort and admirable fight, live healthy lives and have normal lifespans. Unfortunately that kind of individual variation and unpredictability is tough to explain to people outside of the CF community. I am always amused by the fact that some people, when they hear I have CF, are amazed that I lived to 26. Others, when they hear my cough or if I tell them I"m considering transplant, seem convinced that I must never do any treatments at all since I haven't made it 36.7 years old yet. Either reaction is utterly ridiculous in my view.

 

[NYCLawGirl]

Wow, there are so many good and useful discussions going on in this forum right now! You guys all have wonderful opinions and perspectives, I'm so glad this topic was finally addressed.

Adding another perspective to the mix: I have actually had people tell me I must be doing something wrong because my CF is currently more severe, which has always irked me. I completely agree that "mild" CF is not a good term - there are "mild" stages to CF, but in the end it's ridiculous to use terms like that for a number of reasons. For one thing, I think it devalues the effort many "atypical" CFers put into maintaining their health. It can also interfere with compliance, etc. At the same time, I find it difficult to deal with when people assume that just because there are healthier CFers out there living into their 50s, 60s, and beyond that those of us who are struggling with the disease are doing something wrong. I am certainly not perfect, but I am compliant and I have always had wonderful doctors. I was diagnosed with CF at 6 weeks due to massive pneumonia and have been on therapy every single day since then. So while I would never devalue the efforts and achievements of those who live with the disease much longer with fewer complications, I think that to some extent the sword cuts both ways. Hopefully you guys don't think I'm just being hyper-sensitive here...I don't want a pity party, just pointing out the other side of the coin.

IMHO, since CF is a single name for a disease caused by a large number of different mutations, generalizations are beyond stupid. Life expectancy is beyond stupid. There are still children suffering and dying from this disease - children who, along with their parents, do everything right and fight incredibly hard. There are also people who, with equal effort and admirable fight, live healthy lives and have normal lifespans. Unfortunately that kind of individual variation and unpredictability is tough to explain to people outside of the CF community. I am always amused by the fact that some people, when they hear I have CF, are amazed that I lived to 26. Others, when they hear my cough or if I tell them I"m considering transplant, seem convinced that I must never do any treatments at all since I haven't made it 36.7 years old yet. Either reaction is utterly ridiculous in my view.

 

[NYCLawGirl]

Wow, there are so many good and useful discussions going on in this forum right now! You guys all have wonderful opinions and perspectives, I'm so glad this topic was finally addressed.

Adding another perspective to the mix: I have actually had people tell me I must be doing something wrong because my CF is currently more severe, which has always irked me. I completely agree that "mild" CF is not a good term - there are "mild" stages to CF, but in the end it's ridiculous to use terms like that for a number of reasons. For one thing, I think it devalues the effort many "atypical" CFers put into maintaining their health. It can also interfere with compliance, etc. At the same time, I find it difficult to deal with when people assume that just because there are healthier CFers out there living into their 50s, 60s, and beyond that those of us who are struggling with the disease are doing something wrong. I am certainly not perfect, but I am compliant and I have always had wonderful doctors. I was diagnosed with CF at 6 weeks due to massive pneumonia and have been on therapy every single day since then. So while I would never devalue the efforts and achievements of those who live with the disease much longer with fewer complications, I think that to some extent the sword cuts both ways. Hopefully you guys don't think I'm just being hyper-sensitive here...I don't want a pity party, just pointing out the other side of the coin.

IMHO, since CF is a single name for a disease caused by a large number of different mutations, generalizations are beyond stupid. Life expectancy is beyond stupid. There are still children suffering and dying from this disease - children who, along with their parents, do everything right and fight incredibly hard. There are also people who, with equal effort and admirable fight, live healthy lives and have normal lifespans. Unfortunately that kind of individual variation and unpredictability is tough to explain to people outside of the CF community. I am always amused by the fact that some people, when they hear I have CF, are amazed that I lived to 26. Others, when they hear my cough or if I tell them I"m considering transplant, seem convinced that I must never do any treatments at all since I haven't made it 36.7 years old yet. Either reaction is utterly ridiculous in my view.

 

[NYCLawGirl]

Wow, there are so many good and useful discussions going on in this forum right now! You guys all have wonderful opinions and perspectives, I'm so glad this topic was finally addressed.

Adding another perspective to the mix: I have actually had people tell me I must be doing something wrong because my CF is currently more severe, which has always irked me. I completely agree that "mild" CF is not a good term - there are "mild" stages to CF, but in the end it's ridiculous to use terms like that for a number of reasons. For one thing, I think it devalues the effort many "atypical" CFers put into maintaining their health. It can also interfere with compliance, etc. At the same time, I find it difficult to deal with when people assume that just because there are healthier CFers out there living into their 50s, 60s, and beyond that those of us who are struggling with the disease are doing something wrong. I am certainly not perfect, but I am compliant and I have always had wonderful doctors. I was diagnosed with CF at 6 weeks due to massive pneumonia and have been on therapy every single day since then. So while I would never devalue the efforts and achievements of those who live with the disease much longer with fewer complications, I think that to some extent the sword cuts both ways. Hopefully you guys don't think I'm just being hyper-sensitive here...I don't want a pity party, just pointing out the other side of the coin.

IMHO, since CF is a single name for a disease caused by a large number of different mutations, generalizations are beyond stupid. Life expectancy is beyond stupid. There are still children suffering and dying from this disease - children who, along with their parents, do everything right and fight incredibly hard. There are also people who, with equal effort and admirable fight, live healthy lives and have normal lifespans. Unfortunately that kind of individual variation and unpredictability is tough to explain to people outside of the CF community. I am always amused by the fact that some people, when they hear I have CF, are amazed that I lived to 26. Others, when they hear my cough or if I tell them I"m considering transplant, seem convinced that I must never do any treatments at all since I haven't made it 36.7 years old yet. Either reaction is utterly ridiculous in my view.

 

[NYCLawGirl]

Wow, there are so many good and useful discussions going on in this forum right now! You guys all have wonderful opinions and perspectives, I'm so glad this topic was finally addressed.
<br />
<br />Adding another perspective to the mix: I have actually had people tell me I must be doing something wrong because my CF is currently more severe, which has always irked me. I completely agree that "mild" CF is not a good term - there are "mild" stages to CF, but in the end it's ridiculous to use terms like that for a number of reasons. For one thing, I think it devalues the effort many "atypical" CFers put into maintaining their health. It can also interfere with compliance, etc. At the same time, I find it difficult to deal with when people assume that just because there are healthier CFers out there living into their 50s, 60s, and beyond that those of us who are struggling with the disease are doing something wrong. I am certainly not perfect, but I am compliant and I have always had wonderful doctors. I was diagnosed with CF at 6 weeks due to massive pneumonia and have been on therapy every single day since then. So while I would never devalue the efforts and achievements of those who live with the disease much longer with fewer complications, I think that to some extent the sword cuts both ways. Hopefully you guys don't think I'm just being hyper-sensitive here...I don't want a pity party, just pointing out the other side of the coin.
<br />
<br />IMHO, since CF is a single name for a disease caused by a large number of different mutations, generalizations are beyond stupid. Life expectancy is beyond stupid. There are still children suffering and dying from this disease - children who, along with their parents, do everything right and fight incredibly hard. There are also people who, with equal effort and admirable fight, live healthy lives and have normal lifespans. Unfortunately that kind of individual variation and unpredictability is tough to explain to people outside of the CF community. I am always amused by the fact that some people, when they hear I have CF, are amazed that I lived to 26. Others, when they hear my cough or if I tell them I"m considering transplant, seem convinced that I must never do any treatments at all since I haven't made it 36.7 years old yet. Either reaction is utterly ridiculous in my view.

 

[Alyssa]

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

<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.....</end quote></div>

Hey thanks Amy! I'm glad to hear it.




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


IMHO, since CF is a single name for a disease caused by a large number of different mutations, generalizations are beyond stupid. Life expectancy is beyond stupid. There are still children suffering and dying from this disease - children who, along with their parents, do everything right and fight incredibly hard. </end quote></div>


I agree with you Piper -- the quoting of a life expectancy number is irritating. I know it has it purpose as used by the CFF, but it certainly seems to be a misleading number anyway you look at it. Making assumptions on either direction of age around 37 is probably never going to be accurate.

 

[Alyssa]

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

<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.....</end quote></div>

Hey thanks Amy! I'm glad to hear it.




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


IMHO, since CF is a single name for a disease caused by a large number of different mutations, generalizations are beyond stupid. Life expectancy is beyond stupid. There are still children suffering and dying from this disease - children who, along with their parents, do everything right and fight incredibly hard. </end quote></div>


I agree with you Piper -- the quoting of a life expectancy number is irritating. I know it has it purpose as used by the CFF, but it certainly seems to be a misleading number anyway you look at it. Making assumptions on either direction of age around 37 is probably never going to be accurate.

 

[Alyssa]

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

<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.....</end quote></div>

Hey thanks Amy! I'm glad to hear it.




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


IMHO, since CF is a single name for a disease caused by a large number of different mutations, generalizations are beyond stupid. Life expectancy is beyond stupid. There are still children suffering and dying from this disease - children who, along with their parents, do everything right and fight incredibly hard. </end quote></div>


I agree with you Piper -- the quoting of a life expectancy number is irritating. I know it has it purpose as used by the CFF, but it certainly seems to be a misleading number anyway you look at it. Making assumptions on either direction of age around 37 is probably never going to be accurate.

 

[Alyssa]

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

<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.....</end quote>

Hey thanks Amy! I'm glad to hear it.




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


IMHO, since CF is a single name for a disease caused by a large number of different mutations, generalizations are beyond stupid. Life expectancy is beyond stupid. There are still children suffering and dying from this disease - children who, along with their parents, do everything right and fight incredibly hard. </end quote>


I agree with you Piper -- the quoting of a life expectancy number is irritating. I know it has it purpose as used by the CFF, but it certainly seems to be a misleading number anyway you look at it. Making assumptions on either direction of age around 37 is probably never going to be accurate.

 

[Alyssa]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>NoExcuses</b></i>
<br />
<br /><div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Alyssa</b></i>
<br />
<br />
<br />
<br />I might be one of those people that NoExcuses (Amy) is referring to </end quote>
<br />
<br />
<br />
<br />
<br />
<br />Actually Alyssa you aren't.
<br />
<br />
<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.....</end quote>
<br />
<br />Hey thanks Amy! I'm glad to hear it.
<br />
<br />
<br />
<br />
<br /><div class="FTQUOTE"><begin quote><i>Originally posted by: <b>NYCLawGirl</b></i>
<br />
<br />
<br />IMHO, since CF is a single name for a disease caused by a large number of different mutations, generalizations are beyond stupid. Life expectancy is beyond stupid. There are still children suffering and dying from this disease - children who, along with their parents, do everything right and fight incredibly hard. </end quote>
<br />
<br />
<br />I agree with you Piper -- the quoting of a life expectancy number is irritating. I know it has it purpose as used by the CFF, but it certainly seems to be a misleading number anyway you look at it. Making assumptions on either direction of age around 37 is probably never going to be accurate.
<br />
<br />

 

[Sevenstars]

Piper, what a good post.

Not quoting everything you said, but you really captured a lot of things related to this whole "atypical" CF nomenclature. For years and years I was perfectly healthy, through no small amount of work, yet ... CF is CF ... so I eventually did get sick.

When this happened I was away at college so my mother placed the blame firmly on me, saying that I wasn't doing treatments, or was ***** up in some other way. Even as a child if I got sick, she'd get angry at me. Sometimes, it just happens, and there is nothing you can do, and that's probably the hardest thing for a lot of people to accept.

Also, as you said, there are some people that are very healthy for most (all?) of their lives, and it's certainly not from NOT doing treatments. Look at Faust or welshwitch. Sure, they have good health, but they work their asses off for it.

 

[Sevenstars]

Piper, what a good post.

Not quoting everything you said, but you really captured a lot of things related to this whole "atypical" CF nomenclature. For years and years I was perfectly healthy, through no small amount of work, yet ... CF is CF ... so I eventually did get sick.

When this happened I was away at college so my mother placed the blame firmly on me, saying that I wasn't doing treatments, or was ***** up in some other way. Even as a child if I got sick, she'd get angry at me. Sometimes, it just happens, and there is nothing you can do, and that's probably the hardest thing for a lot of people to accept.

Also, as you said, there are some people that are very healthy for most (all?) of their lives, and it's certainly not from NOT doing treatments. Look at Faust or welshwitch. Sure, they have good health, but they work their asses off for it.

 

[Sevenstars]

Piper, what a good post.

Not quoting everything you said, but you really captured a lot of things related to this whole "atypical" CF nomenclature. For years and years I was perfectly healthy, through no small amount of work, yet ... CF is CF ... so I eventually did get sick.

When this happened I was away at college so my mother placed the blame firmly on me, saying that I wasn't doing treatments, or was ***** up in some other way. Even as a child if I got sick, she'd get angry at me. Sometimes, it just happens, and there is nothing you can do, and that's probably the hardest thing for a lot of people to accept.

Also, as you said, there are some people that are very healthy for most (all?) of their lives, and it's certainly not from NOT doing treatments. Look at Faust or welshwitch. Sure, they have good health, but they work their asses off for it.

 

[Sevenstars]

Piper, what a good post.

Not quoting everything you said, but you really captured a lot of things related to this whole "atypical" CF nomenclature. For years and years I was perfectly healthy, through no small amount of work, yet ... CF is CF ... so I eventually did get sick.

When this happened I was away at college so my mother placed the blame firmly on me, saying that I wasn't doing treatments, or was ***** up in some other way. Even as a child if I got sick, she'd get angry at me. Sometimes, it just happens, and there is nothing you can do, and that's probably the hardest thing for a lot of people to accept.

Also, as you said, there are some people that are very healthy for most (all?) of their lives, and it's certainly not from NOT doing treatments. Look at Faust or welshwitch. Sure, they have good health, but they work their asses off for it.

 

[Sevenstars]

Piper, what a good post.
<br />
<br />Not quoting everything you said, but you really captured a lot of things related to this whole "atypical" CF nomenclature. For years and years I was perfectly healthy, through no small amount of work, yet ... CF is CF ... so I eventually did get sick.
<br />
<br />When this happened I was away at college so my mother placed the blame firmly on me, saying that I wasn't doing treatments, or was ***** up in some other way. Even as a child if I got sick, she'd get angry at me. Sometimes, it just happens, and there is nothing you can do, and that's probably the hardest thing for a lot of people to accept.
<br />
<br />Also, as you said, there are some people that are very healthy for most (all?) of their lives, and it's certainly not from NOT doing treatments. Look at Faust or welshwitch. Sure, they have good health, but they work their asses off for it.

 

[LouLou]

Two things:
1) If we genetically tested our parents through sequencing I believe many would have 2 mutations. Most of them would be considered a-typical don't you think? I polled people on here once and virtually no one had both parents sequenced.

2) Although my son has a-typical cf (passed newborn screening, sweat test and no symptoms) he has the vest which we use 3x per day on him. Prevention is key. We're glad in a way I have cf because otherwise we wouldn't know of Isaac's cf since he is in a truely unique situation only having been tested because of my cf.

What I don't understand is how someone could say their child has a-typical cf when one of the typical symptoms of cf is what led to their diagnosis. Such as a case I read recently the baby was failure to thrive but labeled a-typical (edited to add) purely based on mutations. I feel this is a huge disservice to the care of this patient because as we've seen time after time mutations don't dictate much at all about outcome.

It is my understanding that if you have symptoms at all it is no longer a-typical.

We have to remember a lot of stuff is geared towards saving the healthcare system. Can you imagine if every parent wanted to be sequenced prior to conception and the extraordinary cost? So they come up with these labels so that people can't classify as having a family history necessarily but then what is created in the aftermath is a skewed perspective.

Did you know that one is not diagnosed by any cf center with merely two cf genetic mutations? The CFF seems to be skirting around this because they don't talk about it anywhere.

 

[LouLou]

Two things:
1) If we genetically tested our parents through sequencing I believe many would have 2 mutations. Most of them would be considered a-typical don't you think? I polled people on here once and virtually no one had both parents sequenced.

2) Although my son has a-typical cf (passed newborn screening, sweat test and no symptoms) he has the vest which we use 3x per day on him. Prevention is key. We're glad in a way I have cf because otherwise we wouldn't know of Isaac's cf since he is in a truely unique situation only having been tested because of my cf.

What I don't understand is how someone could say their child has a-typical cf when one of the typical symptoms of cf is what led to their diagnosis. Such as a case I read recently the baby was failure to thrive but labeled a-typical (edited to add) purely based on mutations. I feel this is a huge disservice to the care of this patient because as we've seen time after time mutations don't dictate much at all about outcome.

It is my understanding that if you have symptoms at all it is no longer a-typical.

We have to remember a lot of stuff is geared towards saving the healthcare system. Can you imagine if every parent wanted to be sequenced prior to conception and the extraordinary cost? So they come up with these labels so that people can't classify as having a family history necessarily but then what is created in the aftermath is a skewed perspective.

Did you know that one is not diagnosed by any cf center with merely two cf genetic mutations? The CFF seems to be skirting around this because they don't talk about it anywhere.

 

[LouLou]

Two things:
1) If we genetically tested our parents through sequencing I believe many would have 2 mutations. Most of them would be considered a-typical don't you think? I polled people on here once and virtually no one had both parents sequenced.

2) Although my son has a-typical cf (passed newborn screening, sweat test and no symptoms) he has the vest which we use 3x per day on him. Prevention is key. We're glad in a way I have cf because otherwise we wouldn't know of Isaac's cf since he is in a truely unique situation only having been tested because of my cf.

What I don't understand is how someone could say their child has a-typical cf when one of the typical symptoms of cf is what led to their diagnosis. Such as a case I read recently the baby was failure to thrive but labeled a-typical (edited to add) purely based on mutations. I feel this is a huge disservice to the care of this patient because as we've seen time after time mutations don't dictate much at all about outcome.

It is my understanding that if you have symptoms at all it is no longer a-typical.

We have to remember a lot of stuff is geared towards saving the healthcare system. Can you imagine if every parent wanted to be sequenced prior to conception and the extraordinary cost? So they come up with these labels so that people can't classify as having a family history necessarily but then what is created in the aftermath is a skewed perspective.

Did you know that one is not diagnosed by any cf center with merely two cf genetic mutations? The CFF seems to be skirting around this because they don't talk about it anywhere.

 

[LouLou]

Two things:
1) If we genetically tested our parents through sequencing I believe many would have 2 mutations. Most of them would be considered a-typical don't you think? I polled people on here once and virtually no one had both parents sequenced.

2) Although my son has a-typical cf (passed newborn screening, sweat test and no symptoms) he has the vest which we use 3x per day on him. Prevention is key. We're glad in a way I have cf because otherwise we wouldn't know of Isaac's cf since he is in a truely unique situation only having been tested because of my cf.

What I don't understand is how someone could say their child has a-typical cf when one of the typical symptoms of cf is what led to their diagnosis. Such as a case I read recently the baby was failure to thrive but labeled a-typical (edited to add) purely based on mutations. I feel this is a huge disservice to the care of this patient because as we've seen time after time mutations don't dictate much at all about outcome.

It is my understanding that if you have symptoms at all it is no longer a-typical.

We have to remember a lot of stuff is geared towards saving the healthcare system. Can you imagine if every parent wanted to be sequenced prior to conception and the extraordinary cost? So they come up with these labels so that people can't classify as having a family history necessarily but then what is created in the aftermath is a skewed perspective.

Did you know that one is not diagnosed by any cf center with merely two cf genetic mutations? The CFF seems to be skirting around this because they don't talk about it anywhere.

 

[LouLou]

Two things:
<br />1) If we genetically tested our parents through sequencing I believe many would have 2 mutations. Most of them would be considered a-typical don't you think? I polled people on here once and virtually no one had both parents sequenced.
<br />
<br />2) Although my son has a-typical cf (passed newborn screening, sweat test and no symptoms) he has the vest which we use 3x per day on him. Prevention is key. We're glad in a way I have cf because otherwise we wouldn't know of Isaac's cf since he is in a truely unique situation only having been tested because of my cf.
<br />
<br />What I don't understand is how someone could say their child has a-typical cf when one of the typical symptoms of cf is what led to their diagnosis. Such as a case I read recently the baby was failure to thrive but labeled a-typical (edited to add) purely based on mutations. I feel this is a huge disservice to the care of this patient because as we've seen time after time mutations don't dictate much at all about outcome.
<br />
<br />It is my understanding that if you have symptoms at all it is no longer a-typical.
<br />
<br />We have to remember a lot of stuff is geared towards saving the healthcare system. Can you imagine if every parent wanted to be sequenced prior to conception and the extraordinary cost? So they come up with these labels so that people can't classify as having a family history necessarily but then what is created in the aftermath is a skewed perspective.
<br />
<br />Did you know that one is not diagnosed by any cf center with merely two cf genetic mutations? The CFF seems to be skirting around this because they don't talk about it anywhere.