sweat test...genetics

T

tjsheldon3

New member
Hi everyone. New here. My six year old daughter just had a sweat test done two weeks ago. Her level was 38.8. Which Dr said in a "normal" child they would dismiss, but my daughter has many health issues; juvenile arthritis, pre diabetic, thyroid disease, chronic infections, immunodeficiency, asthma, and chronic sinusitis. Because she was so close to having abnormal results they ordered the genetic testing.
We are patiently waiting for results and meet with pulmonary next week because of her asthma and infections.
I hate to say it but CF kind of makes sense. We had her tonsils and adenoid removed and tubes in ears last December in hopes of stopping the upper respiratory problems and chronic strep. It lasted a week :( she also had severe damage to her hearing when she has never had an ear infection! She was just diagnosed with asthma after lung function tests were remarkably improved after a six week trial of flovent.
My questions, has anyone seen a normal value on the sweat test and been diagnosed? I'm trying not to worry but waiting for genetics is horrible :(
Thank you!
 
T

tjsheldon3

New member
I forgot to add my daughter also has stomach issues, and is followed by GI. normal scopes so far but positive antibodies for IBD.
 
R

Ratatosk

Administrator
Staff member
DS was diagnosed as a baby, prior to newborn screening, because he was born with a bowel obstruction caused by Meconium Illeus. Genetic blood testing showed CF; however, sweat tests showed a normal 32.
 
H

HuntersmomTBM

New member
2 Sweat Test 40

My son was diagnosed at age 14, after his 7th pneumonia, after 4 CF tests with Mild CF Variant after 2 Sweat Test -both 40 (borderline), blood test negative, Genetics Test only found Poly T Variant 7t/7T -so no known genetic mutations.

My son also has Tracheobronchomalacia (a floppy mis-shaped airway) and Innominate Artery Compression (an artery near his heart compresses his airway).

Discuss CRMS -Cystic Fibrosis Related Metabolic Syndrome and CF Variant with you Pulmonary Specialist.

http://www.cff.org/aboutcf/testing/genetics/crms/
http://www.cff.org/AboutCF/Testing/Genetics/Basics/
 
M

MichaelL

New member
The sweat test is not effective for some mutations. I am one of them -- although I don't know what my value was, my sweat tests are negative. However, genetic testing has confirmed that I have CF. I went undiagnosed until age 34, so it's good your doctor is on top of this. Good luck with the results.
 
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