Round table Discussion of Atypical CF at National CF Conference in Anaheim..

[Mistyjo]

My daughter is also atypical cf. She has had two borderline sweats, two cf gene mutations - one disease causing the other originally thought not to be disease causing but they know now that neither gene works right. Positive cf results in colon tissue testing. Her main symptoms are currently GI. She's had bowel resection surgery and is still on laxatives to have a bm. She is failure to thrive and is on pacreatic enzymes - creon.
Thanks Amyr for the post. I couldn't get into the article though.

 

[Mistyjo]

My daughter is also atypical cf. She has had two borderline sweats, two cf gene mutations - one disease causing the other originally thought not to be disease causing but they know now that neither gene works right. Positive cf results in colon tissue testing. Her main symptoms are currently GI. She's had bowel resection surgery and is still on laxatives to have a bm. She is failure to thrive and is on pacreatic enzymes - creon.
<br />Thanks Amyr for the post. I couldn't get into the article though.

 

[amyr]

What article could you not open? I will check all of them now but will send you the link via email if you need..

 

[amyr]

What article could you not open? I will check all of them now but will send you the link via email if you need..

 

[amyr]

What article could you not open? I will check all of them now but will send you the link via email if you need..

 

[Mistyjo]

I was trying click into the link that said round table discussion on atypical cf and it kept taking back to the blog. I looked it up online and now I know it's not until Nov. Jasey's doctor will actually be speaking on the colon tissue biopsy and cftr function in colon tissue at this seminar.
Do you have any other info. on it? What exactly will they be discussing about it? Thanks!!

 

[Mistyjo]

I was trying click into the link that said round table discussion on atypical cf and it kept taking back to the blog. I looked it up online and now I know it's not until Nov. Jasey's doctor will actually be speaking on the colon tissue biopsy and cftr function in colon tissue at this seminar.
Do you have any other info. on it? What exactly will they be discussing about it? Thanks!!

 

[Mistyjo]

I was trying click into the link that said round table discussion on atypical cf and it kept taking back to the blog. I looked it up online and now I know it's not until Nov. Jasey's doctor will actually be speaking on the colon tissue biopsy and cftr function in colon tissue at this seminar.
<br />Do you have any other info. on it? What exactly will they be discussing about it? Thanks!!

 

[amyr]

Wow that's great I plan to talk to my kids Dr. about the colon tissue test.. I don't have a link to the conference on my blog but I will try to put one if I am able to. I don't have any other info other than there will be a round table discussion on it.. I will post if I get more info!

 

[amyr]

Wow that's great I plan to talk to my kids Dr. about the colon tissue test.. I don't have a link to the conference on my blog but I will try to put one if I am able to. I don't have any other info other than there will be a round table discussion on it.. I will post if I get more info!

 

[amyr]

Wow that's great I plan to talk to my kids Dr. about the colon tissue test.. I don't have a link to the conference on my blog but I will try to put one if I am able to. I don't have any other info other than there will be a round table discussion on it.. I will post if I get more info!

 

[BarbaraW]

My kids are also dx with atypical cf. They have both had borderline sweat tests, and only have 1 known mutation through the ambry test. However, they have a ton of symptons. Both have had numerous rounds of peumonia, Jack's lung collapsed last winter, both have PI.

 

[BarbaraW]

My kids are also dx with atypical cf. They have both had borderline sweat tests, and only have 1 known mutation through the ambry test. However, they have a ton of symptons. Both have had numerous rounds of peumonia, Jack's lung collapsed last winter, both have PI.

 

[BarbaraW]

<BR>My kids are also dx with atypical cf. They have both had borderline sweat tests, and only have 1 known mutation through the ambry test. However, they have a ton of symptons. Both have had numerous rounds of peumonia, Jack's lung collapsed last winter, both have PI.

 

[LouLou]

I have not heard a medical professional trained in cf use the word "atypical" in years. I thought CRMS (CFTR Related Metabolic Syndrome) was used instead now. To me any cf case that can be defined/diagnosed CF via the CF consortium's definition gets called CF. All other borderline cases are CRMS. Thoughts?

 

[LouLou]

I have not heard a medical professional trained in cf use the word "atypical" in years. I thought CRMS (CFTR Related Metabolic Syndrome) was used instead now. To me any cf case that can be defined/diagnosed CF via the CF consortium's definition gets called CF. All other borderline cases are CRMS. Thoughts?

 

[LouLou]

I have not heard a medical professional trained in cf use the word "atypical" in years. I thought CRMS (CFTR Related Metabolic Syndrome) was used instead now. To me any cf case that can be defined/diagnosed CF via the CF consortium's definition gets called CF. All other borderline cases are CRMS. Thoughts?

 

[amyr]

LouLou,
From what I am told by the CFF is the CFF is in the process of a new ICD9 code for Atypical CF and CF like illness that lack known disease causing mutations, and that process is a long one. Some cases that are considered Atypical CF do fall into the CFTR Related Metabolic Syndrome category to date, but a lot of cases don't. My kids are referred to as Atypical CF but are coded as CF. The way the dr. that diagnosed my kids with Atypical CF describes it as:

This means that although they do not meet the diagnostic criteria for a classic cystic fibrosis diagnosis, their symptoms match those of classic CF patients. Cystic fibrosis is a genetic disease in which a person inherits two mutated copies of the CF gene. This change in the gene leads to the symptoms of CF. In my children, the mutations in the CF gene are thought to be not as severe as those of classic CF patients. However, there is something in their genetic makeup which, in combination with their CF mutations, has led them to manifest these same symptoms.

Hopkins does recognize and diagnose patients with Atypical CF but I believe code them as CF for now. There are several other CFF accredited centers that recognize Atypical CF but unfortunately there are a lot that have not yet been educated. The education process is a long and continuing process.

 

[amyr]

LouLou,
From what I am told by the CFF is the CFF is in the process of a new ICD9 code for Atypical CF and CF like illness that lack known disease causing mutations, and that process is a long one. Some cases that are considered Atypical CF do fall into the CFTR Related Metabolic Syndrome category to date, but a lot of cases don't. My kids are referred to as Atypical CF but are coded as CF. The way the dr. that diagnosed my kids with Atypical CF describes it as:

This means that although they do not meet the diagnostic criteria for a classic cystic fibrosis diagnosis, their symptoms match those of classic CF patients. Cystic fibrosis is a genetic disease in which a person inherits two mutated copies of the CF gene. This change in the gene leads to the symptoms of CF. In my children, the mutations in the CF gene are thought to be not as severe as those of classic CF patients. However, there is something in their genetic makeup which, in combination with their CF mutations, has led them to manifest these same symptoms.

Hopkins does recognize and diagnose patients with Atypical CF but I believe code them as CF for now. There are several other CFF accredited centers that recognize Atypical CF but unfortunately there are a lot that have not yet been educated. The education process is a long and continuing process.

 

[amyr]

LouLou,
<br />From what I am told by the CFF is the CFF is in the process of a new ICD9 code for Atypical CF and CF like illness that lack known disease causing mutations, and that process is a long one. Some cases that are considered Atypical CF do fall into the CFTR Related Metabolic Syndrome category to date, but a lot of cases don't. My kids are referred to as Atypical CF but are coded as CF. The way the dr. that diagnosed my kids with Atypical CF describes it as:
<br />
<br /> This means that although they do not meet the diagnostic criteria for a classic cystic fibrosis diagnosis, their symptoms match those of classic CF patients. Cystic fibrosis is a genetic disease in which a person inherits two mutated copies of the CF gene. This change in the gene leads to the symptoms of CF. In my children, the mutations in the CF gene are thought to be not as severe as those of classic CF patients. However, there is something in their genetic makeup which, in combination with their CF mutations, has led them to manifest these same symptoms.
<br />
<br />Hopkins does recognize and diagnose patients with Atypical CF but I believe code them as CF for now. There are several other CFF accredited centers that recognize Atypical CF but unfortunately there are a lot that have not yet been educated. The education process is a long and continuing process.
<br />