Atypical CF

T

Tinymiracle1

New member
When you say rare, is that because the mutation was not found in the genetic testing? I believe your son should receive all the treatment he deserves. If you don't like what they decide should happen, do what ymikhal did and make them go pale.
 
J

Justinsmom

New member
Hi,

We are in the process of either receving a diagnosis of atypical CF or ruling it out. We are being followed as if he is. My son is PI (fecal elastase level 25 at last testing) but passed the sweat test. He showed one mutation (told that it is rare - can't find any information on it and CHOP did not know any either) and a few polymorphisms which mean nothing. We did not do the Ambry test with duplications/deleations. We are being told at CHOP he is a "mystery child" and also are having a hard time getting the different doctors that are part of our "team" on the same page. We too have an autoimmune disorder (eosinophilic esophagitis) as well are hemotological issues. We are considering a second opinion at JH. Could you give me any information about your experience? Did your son test positive to sweat test? Is he PI? Were they helpful?

Thank you for the information.
Justin's Mama
Justin age 7, possible Atypical CF, Definate PI
 
J

Justinsmom

New member
Hi,

We are in the process of either receving a diagnosis of atypical CF or ruling it out. We are being followed as if he is. My son is PI (fecal elastase level 25 at last testing) but passed the sweat test. He showed one mutation (told that it is rare - can't find any information on it and CHOP did not know any either) and a few polymorphisms which mean nothing. We did not do the Ambry test with duplications/deleations. We are being told at CHOP he is a "mystery child" and also are having a hard time getting the different doctors that are part of our "team" on the same page. We too have an autoimmune disorder (eosinophilic esophagitis) as well are hemotological issues. We are considering a second opinion at JH. Could you give me any information about your experience? Did your son test positive to sweat test? Is he PI? Were they helpful?

Thank you for the information.
Justin's Mama
Justin age 7, possible Atypical CF, Definate PI
 
S

searchingforanswers

New member
"Atypical" does NOT equal "mild" folks. I'm going to climb out of the woodwork to strongly second the paper Bill is referring to...if it is the one I think it is. Unfortunately a lot of medical personel need to read it also.

Do you have the link handy Bill...I have a copy of the paper but not the link.

SFA
 
S

searchingforanswers

New member
"Atypical" does NOT equal "mild" folks. I'm going to climb out of the woodwork to strongly second the paper Bill is referring to...if it is the one I think it is. Unfortunately a lot of medical personel need to read it also.

Do you have the link handy Bill...I have a copy of the paper but not the link.

SFA
 
S

searchingforanswers

New member
"Atypical" does NOT equal "mild" folks. I'm going to climb out of the woodwork to strongly second the paper Bill is referring to...if it is the one I think it is. Unfortunately a lot of medical personel need to read it also.

Do you have the link handy Bill...I have a copy of the paper but not the link.

SFA
 
S

searchingforanswers

New member
"Atypical" does NOT equal "mild" folks. I'm going to climb out of the woodwork to strongly second the paper Bill is referring to...if it is the one I think it is. Unfortunately a lot of medical personel need to read it also.

Do you have the link handy Bill...I have a copy of the paper but not the link.

SFA
 
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