It appears you have not yet Signed Up with our community. To Sign Up for free, please click here....



Cystic Fibrosis Message Board
Post New Thread   Closed Thread
LinkBack Thread Tools
Old 07-14-2010, 06:48 PM   #1
Newbie
(male)
 
Join Date: Jul 2010
Posts: 5
XiMaker HB User
Positive Sweat Test but No Gene Mutations

Doctors are Stumped!!! - My Son, 17 yrs old has been having stomach cramping at randome times through the day but also right after eating or even during eating we can see he is in pain. so we have been trying to figure out the problem. We finally had a Sweat test which showed 70 one time and 72 another indicating positive for CF. Stool samples indicate pancreas sufficent and the Ambrey Genetic testing shows NO mutations. Doctors have not ruled out CF but have not come up with a diagnosis. just wanting input from anyone that has information that may help.

 
Sponsors Lightbulb
   
Old 07-15-2010, 07:25 AM   #2
Senior Veteran
(female)
 
Join Date: Nov 2003
Location: Midwest
Posts: 2,006
Ratatosk HB UserRatatosk HB User
Re: Positive Sweat Test but No Gene Mutations

Could be that they only tested the most common mutations instead of ambry amplified. There are over 1500 cf mutations. So I would ask how many mutations they tested for, if they did deletion and sequencing testing as well. Could be as well it's a mutation yet to be determined.

In any event, I would hope that your doctor would at least TREAT the symptoms, treat your son as if he HAD CF or come up with another diagnosis...

 
Sponsors Lightbulb
   
Old 11-17-2010, 02:17 AM   #3
Newbie
(female)
 
Join Date: Nov 2010
Location: California
Posts: 2
Powerofhope HB User
Re: Positive Sweat Test but No Gene Mutations

The full screening cannot detect all mutations. There are mutations of CF that are found on other portions of the DNA strand that are not identifiable. If your child has the symptoms, with 2 high sweat chloride test, and responds to medication and treatment that IS a diagnosis of CF.

My daughter is in the same boat and was diagnosed back in 2005.

Last edited by moderator2; 11-17-2010 at 05:00 AM. Reason: please do not post websites except as described in the Posting Policy

 
Closed Thread

Similar Threads
Thread Thread Starter Board Replies Last Post
positive sweat test x 2 but no cf gene why Siobhano Cystic Fibrosis 10 11-17-2010 01:59 AM
My son just had his second sweat test... Mattysmomma Cystic Fibrosis 14 02-16-2010 09:29 AM
two borderline sweat tests does my child have cystic fibrosis suzycatfish Cystic Fibrosis 5 12-06-2009 02:58 PM
Daughter having sweat test on monday - help drumhead30 Cystic Fibrosis 1 10-30-2009 08:01 AM
anyone with cf with low normal sweat test? Evelyn02 Cystic Fibrosis 9 04-28-2008 03:29 PM




Thread Tools

Posting Rules
You may not post new threads
You may not post replies
You may not post attachments
You may not edit your posts

BB code is On
Smilies are On
[IMG] code is Off
HTML code is Off
Trackbacks are Off
Pingbacks are Off
Refbacks are Off




Sign Up Today!

Ask our community of thousands of members your health questions, and learn from others experiences. Join the conversation!

I want my free account

All times are GMT -7. The time now is 11:35 AM.



Site owned and operated by HealthBoards.comô
Terms of Use © 1998-2014 HealthBoards.comô All rights reserved.
Do not copy or redistribute in any form!