Ahhh, there is the clue. It sounds like she had best test offered by *Mayo*, not the most comprehensive test available. An Ambry test is never sent to a lab like Mayo- it is always sent to THEIR facility in CA>> they need their specialized equipment to perform the test.
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<br />Personally, yes, I believe an Ambry test would be covered for your daughter with all that is going on with her at this point... strong symptoms suggestive of cf PLUS one known mutation PLUS a borderline sweat test (44) should do it. And yes, the orders have to be written very specifically, to get the collection kit for it to be sent to Ambry (a collection tube, packaging and return label): "CF Amplified w/ deletions & duplications". Ambry staff can also work with your insurance to help get it covered.
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<br />Greasy stools are very commonly seen in cf, as are stools that often float (indicating fat malabsorption.) This was a very big issue with my daughter prior to her dx, and she was also not growing well at all for several yrs prior to dx no matter how much she ate. If it was a one-time sample, that may have not been very telling. A 72-hr collection complete with food log is more accurate since it's more likely to capture a broader range of what is 'normal' for your daughter. I would double check with the dr for the specific name of the test she's already had as well... so many of us parents have been through this here we can help you the more we know. Reflux is a common thing in cf, (but certainly not exclusive to cf as we all know.) Emily is on Prevacid too.
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<br />Emily has an asthma component to her cf as well. It is not a stand-alone dx but rather an inflammation aspect to her disease. When she gets sick it's generally what causes her the most trouble. We don't see an acute onset of 'gasping for air' either like you do in a stereotypical asthma attack. She does get a croupy cough & chest pain that will sometimes require the use of her inhaler or neb in a 'rescue' setting, but that is not the most concerning aspect of the asthma. We see a chronic cough that just will not stop, and the inflammation that goes with it eventually traps so much mucus in her airways that it leads to nasty infection. Daily use of an inhaled steroid has helped a lot, but she sometimes needs high doses of oral Prednisone to get the swelling down so she can cough the junk out.
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<br />How are her illnesses treated? What are her maintainance meds? Does she use a bronchodilator to help keep her airways open? Does she use inhaled steroids to help keep the asthma-related inflammation down as much as possible? Anything else? Prevention is so important to help keep symptoms manageable & help ward off infection. Of course, with cf, the airway clearance we do is vital in preventing infection as well as in helping them recover when they have one. I don't know how much the drs have spoken to you about this w/o your child having a cf dx, but even those without cf have had chest pt recommended to them when they have pneumonia to help get that junk out> I would have the rt teach you how to do it when you bring her in for pft's.
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<br />Any other questions we can help you with- please ask. <img src="i/expressions/face-icon-small-smile.gif" border="0">
<br />I was in your place: a daughter with no dx but lots of unanswered questions, 2yrs ago. I feel for you. <img src="i/expressions/rose.gif" border="0">
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