I need as much help as I can get on this topic. I need to formulate a list of questions about atypical cf. Please take a minute to post some questions you have about atypical cf that you believe would be helpful to have answered to educate anyone interested in this topic. Thanks in advance for your support!!
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- Thread starter amyr
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I need as much help as I can get on this topic. I need to formulate a list of questions about atypical cf. Please take a minute to post some questions you have about atypical cf that you believe would be helpful to have answered to educate anyone interested in this topic. Thanks in advance for your support!!
I need as much help as I can get on this topic. I need to formulate a list of questions about atypical cf. Please take a minute to post some questions you have about atypical cf that you believe would be helpful to have answered to educate anyone interested in this topic. Thanks in advance for your support!!
The basics, since in much of the cf community there doesn't seem to be a 'standardized' definition of the term.
1/What is atypical cf?
2/What are the differences between 'atypical' CF and a more 'classic' presentation of the disease?
3/ How do we get doctors to take our children's care seriously when presentation doesn't always match the presentation of what they feel is a stereotypical kid with CF?
4/ How do we discern/accept when our child may no longer fit the criteria of the 'atypical' dx and rather be presenting with symptoms strongly associated with typical/classic disease? Given the progressive nature of the disease, this is just as important to address as the details of atypical presentation.
5/ How to get drs to recognize a change in our children's status from 'atypical' to 'typical/classic'?
1/What is atypical cf?
2/What are the differences between 'atypical' CF and a more 'classic' presentation of the disease?
3/ How do we get doctors to take our children's care seriously when presentation doesn't always match the presentation of what they feel is a stereotypical kid with CF?
4/ How do we discern/accept when our child may no longer fit the criteria of the 'atypical' dx and rather be presenting with symptoms strongly associated with typical/classic disease? Given the progressive nature of the disease, this is just as important to address as the details of atypical presentation.
5/ How to get drs to recognize a change in our children's status from 'atypical' to 'typical/classic'?
The basics, since in much of the cf community there doesn't seem to be a 'standardized' definition of the term.
1/What is atypical cf?
2/What are the differences between 'atypical' CF and a more 'classic' presentation of the disease?
3/ How do we get doctors to take our children's care seriously when presentation doesn't always match the presentation of what they feel is a stereotypical kid with CF?
4/ How do we discern/accept when our child may no longer fit the criteria of the 'atypical' dx and rather be presenting with symptoms strongly associated with typical/classic disease? Given the progressive nature of the disease, this is just as important to address as the details of atypical presentation.
5/ How to get drs to recognize a change in our children's status from 'atypical' to 'typical/classic'?
1/What is atypical cf?
2/What are the differences between 'atypical' CF and a more 'classic' presentation of the disease?
3/ How do we get doctors to take our children's care seriously when presentation doesn't always match the presentation of what they feel is a stereotypical kid with CF?
4/ How do we discern/accept when our child may no longer fit the criteria of the 'atypical' dx and rather be presenting with symptoms strongly associated with typical/classic disease? Given the progressive nature of the disease, this is just as important to address as the details of atypical presentation.
5/ How to get drs to recognize a change in our children's status from 'atypical' to 'typical/classic'?
The basics, since in much of the cf community there doesn't seem to be a 'standardized' definition of the term.
<br />
<br />1/What is atypical cf?
<br />
<br />2/What are the differences between 'atypical' CF and a more 'classic' presentation of the disease?
<br />
<br />3/ How do we get doctors to take our children's care seriously when presentation doesn't always match the presentation of what they feel is a stereotypical kid with CF?
<br />
<br />4/ How do we discern/accept when our child may no longer fit the criteria of the 'atypical' dx and rather be presenting with symptoms strongly associated with typical/classic disease? Given the progressive nature of the disease, this is just as important to address as the details of atypical presentation.
<br />
<br />5/ How to get drs to recognize a change in our children's status from 'atypical' to 'typical/classic'?
<br />
<br />1/What is atypical cf?
<br />
<br />2/What are the differences between 'atypical' CF and a more 'classic' presentation of the disease?
<br />
<br />3/ How do we get doctors to take our children's care seriously when presentation doesn't always match the presentation of what they feel is a stereotypical kid with CF?
<br />
<br />4/ How do we discern/accept when our child may no longer fit the criteria of the 'atypical' dx and rather be presenting with symptoms strongly associated with typical/classic disease? Given the progressive nature of the disease, this is just as important to address as the details of atypical presentation.
<br />
<br />5/ How to get drs to recognize a change in our children's status from 'atypical' to 'typical/classic'?
I guess, this should start with the 1st question of Harriett's: What is atypical CF?
To clarify there is NO disease called atypical CF, and no diagnosis of such disorder (clinically). It is a label used by ????? to describe the people added to the CF community via primarily genetic testing that would not have previously (10yrs ago) been diagnosed with CF.
If you can define this term I think the answers will probably 'appear'.
To clarify there is NO disease called atypical CF, and no diagnosis of such disorder (clinically). It is a label used by ????? to describe the people added to the CF community via primarily genetic testing that would not have previously (10yrs ago) been diagnosed with CF.
If you can define this term I think the answers will probably 'appear'.
I guess, this should start with the 1st question of Harriett's: What is atypical CF?
To clarify there is NO disease called atypical CF, and no diagnosis of such disorder (clinically). It is a label used by ????? to describe the people added to the CF community via primarily genetic testing that would not have previously (10yrs ago) been diagnosed with CF.
If you can define this term I think the answers will probably 'appear'.
To clarify there is NO disease called atypical CF, and no diagnosis of such disorder (clinically). It is a label used by ????? to describe the people added to the CF community via primarily genetic testing that would not have previously (10yrs ago) been diagnosed with CF.
If you can define this term I think the answers will probably 'appear'.
I guess, this should start with the 1st question of Harriett's: What is atypical CF?
<br />
<br />To clarify there is NO disease called atypical CF, and no diagnosis of such disorder (clinically). It is a label used by ????? to describe the people added to the CF community via primarily genetic testing that would not have previously (10yrs ago) been diagnosed with CF.
<br />
<br />If you can define this term I think the answers will probably 'appear'.
<br />
<br />To clarify there is NO disease called atypical CF, and no diagnosis of such disorder (clinically). It is a label used by ????? to describe the people added to the CF community via primarily genetic testing that would not have previously (10yrs ago) been diagnosed with CF.
<br />
<br />If you can define this term I think the answers will probably 'appear'.
Hi,
Personally, I would like to know if atypical CF has more to do with how one is diagnosed or the disease itself. If there are symptoms with no known genes is it atypical CF or is it the other way around, known genes, no symptoms?
I am sure I have more once we clarify that. Will you share the info you gather here or on your website? You know I will be looking for it! <img src="i/expressions/face-icon-small-wink.gif" border="0">
Personally, I would like to know if atypical CF has more to do with how one is diagnosed or the disease itself. If there are symptoms with no known genes is it atypical CF or is it the other way around, known genes, no symptoms?
I am sure I have more once we clarify that. Will you share the info you gather here or on your website? You know I will be looking for it! <img src="i/expressions/face-icon-small-wink.gif" border="0">
Hi,
Personally, I would like to know if atypical CF has more to do with how one is diagnosed or the disease itself. If there are symptoms with no known genes is it atypical CF or is it the other way around, known genes, no symptoms?
I am sure I have more once we clarify that. Will you share the info you gather here or on your website? You know I will be looking for it! <img src="i/expressions/face-icon-small-wink.gif" border="0">
Personally, I would like to know if atypical CF has more to do with how one is diagnosed or the disease itself. If there are symptoms with no known genes is it atypical CF or is it the other way around, known genes, no symptoms?
I am sure I have more once we clarify that. Will you share the info you gather here or on your website? You know I will be looking for it! <img src="i/expressions/face-icon-small-wink.gif" border="0">
Hi,
<br />Personally, I would like to know if atypical CF has more to do with how one is diagnosed or the disease itself. If there are symptoms with no known genes is it atypical CF or is it the other way around, known genes, no symptoms?
<br />I am sure I have more once we clarify that. Will you share the info you gather here or on your website? You know I will be looking for it! <img src="i/expressions/face-icon-small-wink.gif" border="0">
<br />Personally, I would like to know if atypical CF has more to do with how one is diagnosed or the disease itself. If there are symptoms with no known genes is it atypical CF or is it the other way around, known genes, no symptoms?
<br />I am sure I have more once we clarify that. Will you share the info you gather here or on your website? You know I will be looking for it! <img src="i/expressions/face-icon-small-wink.gif" border="0">
I would say its known genes, no symptoms. One question could be 'what are your gene mutations (if known)?'.
I was talking with my sons doctor at last clinic about my 'atypical cf' and he didn't say that it was atypical , he described it as a league table, classic CF at the top with differing degrees of cf down the table....he put me right at the bottom ( of course he is not privvy to my medical notes, just what I let him know).
For those who don't know me or have forgotten<img src="i/expressions/face-icon-small-happy.gif" border="0">, I have a double RH117 (7T) mutation.
craig
I was talking with my sons doctor at last clinic about my 'atypical cf' and he didn't say that it was atypical , he described it as a league table, classic CF at the top with differing degrees of cf down the table....he put me right at the bottom ( of course he is not privvy to my medical notes, just what I let him know).
For those who don't know me or have forgotten<img src="i/expressions/face-icon-small-happy.gif" border="0">, I have a double RH117 (7T) mutation.
craig
I would say its known genes, no symptoms. One question could be 'what are your gene mutations (if known)?'.
I was talking with my sons doctor at last clinic about my 'atypical cf' and he didn't say that it was atypical , he described it as a league table, classic CF at the top with differing degrees of cf down the table....he put me right at the bottom ( of course he is not privvy to my medical notes, just what I let him know).
For those who don't know me or have forgotten<img src="i/expressions/face-icon-small-happy.gif" border="0">, I have a double RH117 (7T) mutation.
craig
I was talking with my sons doctor at last clinic about my 'atypical cf' and he didn't say that it was atypical , he described it as a league table, classic CF at the top with differing degrees of cf down the table....he put me right at the bottom ( of course he is not privvy to my medical notes, just what I let him know).
For those who don't know me or have forgotten<img src="i/expressions/face-icon-small-happy.gif" border="0">, I have a double RH117 (7T) mutation.
craig
I would say its known genes, no symptoms. One question could be 'what are your gene mutations (if known)?'.
<br />I was talking with my sons doctor at last clinic about my 'atypical cf' and he didn't say that it was atypical , he described it as a league table, classic CF at the top with differing degrees of cf down the table....he put me right at the bottom ( of course he is not privvy to my medical notes, just what I let him know).
<br />For those who don't know me or have forgotten<img src="i/expressions/face-icon-small-happy.gif" border="0">, I have a double RH117 (7T) mutation.
<br />
<br />craig
<br />I was talking with my sons doctor at last clinic about my 'atypical cf' and he didn't say that it was atypical , he described it as a league table, classic CF at the top with differing degrees of cf down the table....he put me right at the bottom ( of course he is not privvy to my medical notes, just what I let him know).
<br />For those who don't know me or have forgotten<img src="i/expressions/face-icon-small-happy.gif" border="0">, I have a double RH117 (7T) mutation.
<br />
<br />craig
Harriett's list is great, and then to expand upon Craig's question - is there a specific genotype(s) that would warrant an "atypical" label?
Consider an infant with DF508 and RH117 (7T) and borderline sweat test who was tentatively diagnosed with "CFMS" or CF Metabolic Syndrome. The CF clinic described this to the parents as something relatively new without a lot of understanding but not as problematic as the classic form of CF. (Don't shoot me, I'm only the messenger)!
I don't know if CFMS is a way to put a more clinical label on what have previously been called "atypical" cases.
I think getting clearer information about this topic is very important.
Consider an infant with DF508 and RH117 (7T) and borderline sweat test who was tentatively diagnosed with "CFMS" or CF Metabolic Syndrome. The CF clinic described this to the parents as something relatively new without a lot of understanding but not as problematic as the classic form of CF. (Don't shoot me, I'm only the messenger)!
I don't know if CFMS is a way to put a more clinical label on what have previously been called "atypical" cases.
I think getting clearer information about this topic is very important.
Harriett's list is great, and then to expand upon Craig's question - is there a specific genotype(s) that would warrant an "atypical" label?
Consider an infant with DF508 and RH117 (7T) and borderline sweat test who was tentatively diagnosed with "CFMS" or CF Metabolic Syndrome. The CF clinic described this to the parents as something relatively new without a lot of understanding but not as problematic as the classic form of CF. (Don't shoot me, I'm only the messenger)!
I don't know if CFMS is a way to put a more clinical label on what have previously been called "atypical" cases.
I think getting clearer information about this topic is very important.
Consider an infant with DF508 and RH117 (7T) and borderline sweat test who was tentatively diagnosed with "CFMS" or CF Metabolic Syndrome. The CF clinic described this to the parents as something relatively new without a lot of understanding but not as problematic as the classic form of CF. (Don't shoot me, I'm only the messenger)!
I don't know if CFMS is a way to put a more clinical label on what have previously been called "atypical" cases.
I think getting clearer information about this topic is very important.
Harriett's list is great, and then to expand upon Craig's question - is there a specific genotype(s) that would warrant an "atypical" label?
<br />
<br />Consider an infant with DF508 and RH117 (7T) and borderline sweat test who was tentatively diagnosed with "CFMS" or CF Metabolic Syndrome. The CF clinic described this to the parents as something relatively new without a lot of understanding but not as problematic as the classic form of CF. (Don't shoot me, I'm only the messenger)!
<br />
<br />I don't know if CFMS is a way to put a more clinical label on what have previously been called "atypical" cases.
<br />
<br />I think getting clearer information about this topic is very important.
<br />
<br />Consider an infant with DF508 and RH117 (7T) and borderline sweat test who was tentatively diagnosed with "CFMS" or CF Metabolic Syndrome. The CF clinic described this to the parents as something relatively new without a lot of understanding but not as problematic as the classic form of CF. (Don't shoot me, I'm only the messenger)!
<br />
<br />I don't know if CFMS is a way to put a more clinical label on what have previously been called "atypical" cases.
<br />
<br />I think getting clearer information about this topic is very important.
Thank you so much for the replies.. Harriette I have to say you are such an amazingly valuable asset to this forum!! As some of you know three of my kids have been diagnosed with atypical cf after almost 11 years of pure agony. My story is way too long to rewrite but it is one that has left me with an insatiable resolve to help families like mine. I will be in touch with answers and with a glimpse into what it is I am doing as soon as I can but in the mean time THANK YOU!!!<img src="i/expressions/face-icon-small-happy.gif" border="0">
Thank you so much for the replies.. Harriette I have to say you are such an amazingly valuable asset to this forum!! As some of you know three of my kids have been diagnosed with atypical cf after almost 11 years of pure agony. My story is way too long to rewrite but it is one that has left me with an insatiable resolve to help families like mine. I will be in touch with answers and with a glimpse into what it is I am doing as soon as I can but in the mean time THANK YOU!!!<img src="i/expressions/face-icon-small-happy.gif" border="0">