Unable to get a sweat test

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kmsmom3
New Member


Date Joined Oct 2006
Total Posts : 11
   Posted 10/11/2006 5:21 PM (GMT -7)   
For the past 1 and half years, my daughter(5 now) has been battling chronic cough, bouts with pneumonia, and now some reflux and constipation.  She has seen several specialists that feel she is clinically CF but we have tried to obtain a sweat chloride test on her 4 different times without getting enough sweat in the cylinder.  They did the genetic screen but it tests for only 32 of 1000 mutations and it was not positive.  Yet, all symptoms including her paleness and in ability to gain and maintain weight(she wighs 42 down from 45).  Recently she had atelectasis and pneumonia caused from what we think was adenovirus.  Has anyone here been diagnosed with a mutation different than the main 32 or trouble obtaining a sweat chloride.
Thanks for any information that you could give.

Chaser
Regular Member


Date Joined Apr 2006
Total Posts : 91
   Posted 10/12/2006 8:49 PM (GMT -7)   
Is she getting these sweat tests done at an accredited CF centre? I would suggest the Ambry test. They do an extensive panel testing.

kmsmom3
New Member


Date Joined Oct 2006
Total Posts : 11
   Posted 10/13/2006 6:28 AM (GMT -7)   
I do not know for sure but it is a local childrens hospital that do several on a regular basis.  What does the Ambry test show?

imondeck
Regular Member


Date Joined Apr 2006
Total Posts : 105
   Posted 10/13/2006 9:49 AM (GMT -7)   
Hello and welcome to HW!  Like Chaser suggested, make sure the sweat tests were done at an accredited CF center.  For more info on Ambry their website is www.ambrygen.com.  My son had the Genzyme test and then the full amplified Ambry test done,  Steve at Ambry is very helpful!
 
There is also a Nasal Potential Difference test that can be performed (not every state has it), but I don't recommend it for children as it can be uncomfortable (so I am told).
 
Take care and I hope you find some answers... 
Sandra
 
Be who you are and say what you feel, because those who mind don't matter and those who matter don't mind. ~Dr. Seuss

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