What is atypical cf?

M

musclemania70

New member
Isn't this a genetic disease? Either you have a/the mutation or you don't. Symptoms may vary and so does the severity at certain points in your life. But it is still a defect and will affect your health no matter what at some point in your life. No?
 
M

musclemania70

New member
Isn't this a genetic disease? Either you have a/the mutation or you don't. Symptoms may vary and so does the severity at certain points in your life. But it is still a defect and will affect your health no matter what at some point in your life. No?
 
M

musclemania70

New member
Isn't this a genetic disease? Either you have a/the mutation or you don't. Symptoms may vary and so does the severity at certain points in your life. But it is still a defect and will affect your health no matter what at some point in your life. No?
 
M

musclemania70

New member
Isn't this a genetic disease? Either you have a/the mutation or you don't. Symptoms may vary and so does the severity at certain points in your life. But it is still a defect and will affect your health no matter what at some point in your life. No?
 
M

musclemania70

New member
Isn't this a genetic disease? Either you have a/the mutation or you don't. Symptoms may vary and so does the severity at certain points in your life. But it is still a defect and will affect your health no matter what at some point in your life. No?
 
H

hmw

New member
Yeah, that is true. But it is a 'spectrum' disease to a point; some people are affected much more severely than others (despite aggressive treatment some die very young, others are very healthy despite minimal intervention and live a very long time.) Sometimes specific mutations play a role in this, as do other factors. People are also affected in so many different ways (pulmonary disease, pancreatic issues: PI or diabetes, liver disease, sinus disease, etc) adding to the variety of forms that this ONE disease takes.

But I agree that CF is a progressive disease that will eventually affect everyone that has it in varying ways, yes.
 
H

hmw

New member
Yeah, that is true. But it is a 'spectrum' disease to a point; some people are affected much more severely than others (despite aggressive treatment some die very young, others are very healthy despite minimal intervention and live a very long time.) Sometimes specific mutations play a role in this, as do other factors. People are also affected in so many different ways (pulmonary disease, pancreatic issues: PI or diabetes, liver disease, sinus disease, etc) adding to the variety of forms that this ONE disease takes.

But I agree that CF is a progressive disease that will eventually affect everyone that has it in varying ways, yes.
 
H

hmw

New member
Yeah, that is true. But it is a 'spectrum' disease to a point; some people are affected much more severely than others (despite aggressive treatment some die very young, others are very healthy despite minimal intervention and live a very long time.) Sometimes specific mutations play a role in this, as do other factors. People are also affected in so many different ways (pulmonary disease, pancreatic issues: PI or diabetes, liver disease, sinus disease, etc) adding to the variety of forms that this ONE disease takes.

But I agree that CF is a progressive disease that will eventually affect everyone that has it in varying ways, yes.
 
H

hmw

New member
Yeah, that is true. But it is a 'spectrum' disease to a point; some people are affected much more severely than others (despite aggressive treatment some die very young, others are very healthy despite minimal intervention and live a very long time.) Sometimes specific mutations play a role in this, as do other factors. People are also affected in so many different ways (pulmonary disease, pancreatic issues: PI or diabetes, liver disease, sinus disease, etc) adding to the variety of forms that this ONE disease takes.

But I agree that CF is a progressive disease that will eventually affect everyone that has it in varying ways, yes.
 
H

hmw

New member
Yeah, that is true. But it is a 'spectrum' disease to a point; some people are affected much more severely than others (despite aggressive treatment some die very young, others are very healthy despite minimal intervention and live a very long time.) Sometimes specific mutations play a role in this, as do other factors. People are also affected in so many different ways (pulmonary disease, pancreatic issues: PI or diabetes, liver disease, sinus disease, etc) adding to the variety of forms that this ONE disease takes.
<br />
<br />But I agree that CF is a progressive disease that will eventually affect everyone that has it in varying ways, yes.
 
N

NYCLawGirl

New member
Harriett is dead on with the statement that CF is a "spectrum disease" -- there are HUGE variations in severity and age of onset for symptoms. That said, "atypical" is usually used to distinguish from "classic" CF. The biggest factors in a doctor's decision to label someone "atypical" seem to be: 1) age of diagnosis (anything after about 10 seems to get you the atypical label), 2) mutations (rare or more mild mutations), 3) pancreatic sufficiency, 4) borderline or negative sweat test numbers, and 5) milder pulmonary symptoms. I would say if someone meets at least two or three of the above criteria, they are likely to be labeled "atypical" by some members of the medical/CF community, for better or for worse.

There are many "classic" CFers who manage to maintain good lung function until much later in life, but if you're diagnosed in infancy/young childhood, have higher sweat test numbers, and are pancreatic insufficient, no one is likely to call you atypical regardless of your lung health.

I personally have mixed feelings about the whole thing. I don't think the labels are very helpful, but then again I'm a "two severe mutations, diagnosed at 6 weeks, pancreatic insufficient, sweat test of over 100, PA-culturing" style "classic" CFer, so I've never had to think much about the atypical designation and what it means.
 
N

NYCLawGirl

New member
Harriett is dead on with the statement that CF is a "spectrum disease" -- there are HUGE variations in severity and age of onset for symptoms. That said, "atypical" is usually used to distinguish from "classic" CF. The biggest factors in a doctor's decision to label someone "atypical" seem to be: 1) age of diagnosis (anything after about 10 seems to get you the atypical label), 2) mutations (rare or more mild mutations), 3) pancreatic sufficiency, 4) borderline or negative sweat test numbers, and 5) milder pulmonary symptoms. I would say if someone meets at least two or three of the above criteria, they are likely to be labeled "atypical" by some members of the medical/CF community, for better or for worse.

There are many "classic" CFers who manage to maintain good lung function until much later in life, but if you're diagnosed in infancy/young childhood, have higher sweat test numbers, and are pancreatic insufficient, no one is likely to call you atypical regardless of your lung health.

I personally have mixed feelings about the whole thing. I don't think the labels are very helpful, but then again I'm a "two severe mutations, diagnosed at 6 weeks, pancreatic insufficient, sweat test of over 100, PA-culturing" style "classic" CFer, so I've never had to think much about the atypical designation and what it means.
 
N

NYCLawGirl

New member
Harriett is dead on with the statement that CF is a "spectrum disease" -- there are HUGE variations in severity and age of onset for symptoms. That said, "atypical" is usually used to distinguish from "classic" CF. The biggest factors in a doctor's decision to label someone "atypical" seem to be: 1) age of diagnosis (anything after about 10 seems to get you the atypical label), 2) mutations (rare or more mild mutations), 3) pancreatic sufficiency, 4) borderline or negative sweat test numbers, and 5) milder pulmonary symptoms. I would say if someone meets at least two or three of the above criteria, they are likely to be labeled "atypical" by some members of the medical/CF community, for better or for worse.

There are many "classic" CFers who manage to maintain good lung function until much later in life, but if you're diagnosed in infancy/young childhood, have higher sweat test numbers, and are pancreatic insufficient, no one is likely to call you atypical regardless of your lung health.

I personally have mixed feelings about the whole thing. I don't think the labels are very helpful, but then again I'm a "two severe mutations, diagnosed at 6 weeks, pancreatic insufficient, sweat test of over 100, PA-culturing" style "classic" CFer, so I've never had to think much about the atypical designation and what it means.
 
N

NYCLawGirl

New member
Harriett is dead on with the statement that CF is a "spectrum disease" -- there are HUGE variations in severity and age of onset for symptoms. That said, "atypical" is usually used to distinguish from "classic" CF. The biggest factors in a doctor's decision to label someone "atypical" seem to be: 1) age of diagnosis (anything after about 10 seems to get you the atypical label), 2) mutations (rare or more mild mutations), 3) pancreatic sufficiency, 4) borderline or negative sweat test numbers, and 5) milder pulmonary symptoms. I would say if someone meets at least two or three of the above criteria, they are likely to be labeled "atypical" by some members of the medical/CF community, for better or for worse.

There are many "classic" CFers who manage to maintain good lung function until much later in life, but if you're diagnosed in infancy/young childhood, have higher sweat test numbers, and are pancreatic insufficient, no one is likely to call you atypical regardless of your lung health.

I personally have mixed feelings about the whole thing. I don't think the labels are very helpful, but then again I'm a "two severe mutations, diagnosed at 6 weeks, pancreatic insufficient, sweat test of over 100, PA-culturing" style "classic" CFer, so I've never had to think much about the atypical designation and what it means.
 
N

NYCLawGirl

New member
Harriett is dead on with the statement that CF is a "spectrum disease" -- there are HUGE variations in severity and age of onset for symptoms. That said, "atypical" is usually used to distinguish from "classic" CF. The biggest factors in a doctor's decision to label someone "atypical" seem to be: 1) age of diagnosis (anything after about 10 seems to get you the atypical label), 2) mutations (rare or more mild mutations), 3) pancreatic sufficiency, 4) borderline or negative sweat test numbers, and 5) milder pulmonary symptoms. I would say if someone meets at least two or three of the above criteria, they are likely to be labeled "atypical" by some members of the medical/CF community, for better or for worse.
<br />
<br />There are many "classic" CFers who manage to maintain good lung function until much later in life, but if you're diagnosed in infancy/young childhood, have higher sweat test numbers, and are pancreatic insufficient, no one is likely to call you atypical regardless of your lung health.
<br />
<br />I personally have mixed feelings about the whole thing. I don't think the labels are very helpful, but then again I'm a "two severe mutations, diagnosed at 6 weeks, pancreatic insufficient, sweat test of over 100, PA-culturing" style "classic" CFer, so I've never had to think much about the atypical designation and what it means.
 
S

SarahProcter

Guest
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>saveferris2009</b></i>


I've seen the word "atypical" used by those who:



-Are scared of what CF can bring and it assuages their fears to use the word "atypical" in front of CF



-Don't want to put the preventative work into treating a CF child (aka I don't need to do CPT daily because the kid has atypical CF)



-Refuse to get a genetic diagnosis / don't really have CF</end quote></div>

I've heard it used by another category though - the director of the pediatric CF clinic that my daughter goes to. He tells me that my daughter has atypical CF, and may well never have symptoms, and if she has any he'd expect them to be mild, and that we don't need to do daily CPT, and that they're trying to come up with a new category, currently being called CFTR Metabolic Disorder, for people with two mutations who don't actually "have CF". He says that the addition of genetic screening to newborn tests has caught a ton of kids that have "atypical CF".

So I hear you, I do, about people wanting to wishful-think themselves out of cystic fibrosis by calling it atypical - but what do you do when that's what the doctors are calling it?
 
S

SarahProcter

Guest
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>saveferris2009</b></i>


I've seen the word "atypical" used by those who:



-Are scared of what CF can bring and it assuages their fears to use the word "atypical" in front of CF



-Don't want to put the preventative work into treating a CF child (aka I don't need to do CPT daily because the kid has atypical CF)



-Refuse to get a genetic diagnosis / don't really have CF</end quote></div>

I've heard it used by another category though - the director of the pediatric CF clinic that my daughter goes to. He tells me that my daughter has atypical CF, and may well never have symptoms, and if she has any he'd expect them to be mild, and that we don't need to do daily CPT, and that they're trying to come up with a new category, currently being called CFTR Metabolic Disorder, for people with two mutations who don't actually "have CF". He says that the addition of genetic screening to newborn tests has caught a ton of kids that have "atypical CF".

So I hear you, I do, about people wanting to wishful-think themselves out of cystic fibrosis by calling it atypical - but what do you do when that's what the doctors are calling it?
 
S

SarahProcter

Guest
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>saveferris2009</b></i>


I've seen the word "atypical" used by those who:



-Are scared of what CF can bring and it assuages their fears to use the word "atypical" in front of CF



-Don't want to put the preventative work into treating a CF child (aka I don't need to do CPT daily because the kid has atypical CF)



-Refuse to get a genetic diagnosis / don't really have CF</end quote></div>

I've heard it used by another category though - the director of the pediatric CF clinic that my daughter goes to. He tells me that my daughter has atypical CF, and may well never have symptoms, and if she has any he'd expect them to be mild, and that we don't need to do daily CPT, and that they're trying to come up with a new category, currently being called CFTR Metabolic Disorder, for people with two mutations who don't actually "have CF". He says that the addition of genetic screening to newborn tests has caught a ton of kids that have "atypical CF".

So I hear you, I do, about people wanting to wishful-think themselves out of cystic fibrosis by calling it atypical - but what do you do when that's what the doctors are calling it?
 
S

SarahProcter

Guest
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>saveferris2009</b></i>


I've seen the word "atypical" used by those who:



-Are scared of what CF can bring and it assuages their fears to use the word "atypical" in front of CF



-Don't want to put the preventative work into treating a CF child (aka I don't need to do CPT daily because the kid has atypical CF)



-Refuse to get a genetic diagnosis / don't really have CF</end quote>

I've heard it used by another category though - the director of the pediatric CF clinic that my daughter goes to. He tells me that my daughter has atypical CF, and may well never have symptoms, and if she has any he'd expect them to be mild, and that we don't need to do daily CPT, and that they're trying to come up with a new category, currently being called CFTR Metabolic Disorder, for people with two mutations who don't actually "have CF". He says that the addition of genetic screening to newborn tests has caught a ton of kids that have "atypical CF".

So I hear you, I do, about people wanting to wishful-think themselves out of cystic fibrosis by calling it atypical - but what do you do when that's what the doctors are calling it?
 
S

SarahProcter

Guest
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>saveferris2009</b></i>
<br />
<br />
<br />I've seen the word "atypical" used by those who:
<br />
<br />
<br />
<br />-Are scared of what CF can bring and it assuages their fears to use the word "atypical" in front of CF
<br />
<br />
<br />
<br />-Don't want to put the preventative work into treating a CF child (aka I don't need to do CPT daily because the kid has atypical CF)
<br />
<br />
<br />
<br />-Refuse to get a genetic diagnosis / don't really have CF</end quote>
<br />
<br />I've heard it used by another category though - the director of the pediatric CF clinic that my daughter goes to. He tells me that my daughter has atypical CF, and may well never have symptoms, and if she has any he'd expect them to be mild, and that we don't need to do daily CPT, and that they're trying to come up with a new category, currently being called CFTR Metabolic Disorder, for people with two mutations who don't actually "have CF". He says that the addition of genetic screening to newborn tests has caught a ton of kids that have "atypical CF".
<br />
<br />So I hear you, I do, about people wanting to wishful-think themselves out of cystic fibrosis by calling it atypical - but what do you do when that's what the doctors are calling it?
 
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