help!!

Shelly

New member
Hi. I have a 21 month old daughter that has asthma. When she went to see her pulmonologist last week he ordered a dna test for cf and she tested positive for a 5t gene and no other mutations but they only tested for 25 mutations and not all of them. She stays sick all the time with respiratory problems. And she has alot of kinda yellow loose stools that smell really bad most of the time nad her belly is bloated a lot especially after she eats. She sweats so much even in an air conditioned room and at night when she sleeps. She is borderline anemic too. My question is should I have her doctor do more dna test to check for other mutations, and for her to have a sweat test done? Could the asthma symptoms really be cf symptoms or could it be both? Not sure really what to do. Shelly
 

AbsintheSorrow

New member
If you think it might be CF, demand a sweat test. You can never go wrong making sure the tests get done just in case. And try to have it done at a CF center... non-CF-centers do sweat tests all the time, and they get screwed up. When I was born, I had one copy of the most common gene, Delta F508, but I also had a gene that hadn't even been named yet. So test her.
 

AbsintheSorrow

New member
Oh and PS--- I actually have asthma too. So she may have been diagnosed with asthma when it's CF... or she may have both. Demand the test be done.
 

Augustmoon

New member
Hi! I would demand a sweat test and the gene test (for all mutations). If it is CF, she will get the meds and treatments she needs and probably feel a lot better! I'll be thinking of you!!!!
 

anonymous

New member
Absolutely you should demand a sweat test. We tried for 2 months to find out what was wrong with our daughter until our pediatrician finally agreed to get her tested for a variety of things. We never thought it was CF but we knew there was something wrong. Our daughter was also anemic before being diagnosed, but was admitted for testing on failure to thrive. If she is malabsorbing, which it sounds like from the stools, this may cause her to have bad stomach pains. It is best to rule it out if it isn't CF or get a proper diagnosis and start to treat her for it.If her dr. will not have her tested find someone that will. We changed dr's 3 times before someone agreed there was something wrong. If you honestly feel in your gutt that it is more than asthma then don't give up.
 

anonymous

New member
Thank all of you for being so caring. My daughter goes to the doctor on Thursday and I will tell him to do the sweat test and more thorough dna test. I read something about Ambry Genetics. Does anyone know how good they are? Thanks again, Shelly
 
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