Bill, it sounds like she IS letting the CF specialists treat her. She's also trying to make heads or tails of what her daughter's confusing sweat tests mean, and what it means when your previously-asymptomatic child develops coughing and wheezing upon starting breathing treatments. "Ambry Amplified Test approval" sounds like she's trying to get insurance to pay for the most complete Ambry genetic testing available, in order to determine her daughter's mutations. Surely everyone with CF nowadays is interesting in knowing precisely what mutations they have, in this day and age when drugs are being developed that help specific mutations and do not help others - getting this information in addition to her CF diagnosis makes perfect sense. Even trying to pin down sweat test values can be significant in terms of treatment, not just diagnosis, of CF - note that Vertex is saying that certain drug treatments may be effective in CF patients with residual CFTR function - this is often defined as a comparatively low sweat test, and/or pancreatic sufficiency. There are trials under development now specifically to test Kalydeco in people with lower sweat test values. This can be useful information.
Also, you sound like you're telling her off, when she's asking the kinds of questions that parents of newly-diagnosed kids ask because they're confused. That's not very helpful.
Mama Bean, some feedback and questions for you:
1. How old is your daughter? Sweat test results are less consistent and reliable with infants than with older children.
2. How far apart were the sweat tests done? Sweat test results can also change as a child gets older (though my understanding is, alas, that they usually go up rather than down).
With regard to the throat culture, in children who are too young to effectively cough up a sputum sample, throat cultures are used to try to detect bacteria that may be growing in the lungs. It will be a routine part of her medical care to receive throat cultures when she goes to CF clinic at her approved CF center. Detecting bacteria growing in the lungs before there is serious impact on lung functioning allows your pulmonologist to treat the infection aggressively and hopefully get rid of it before it can cause more serious damage.
With regard to coughing and wheezing more now that she is doing breathing treatments (presumably inhaler and nebulizer?) and CPT, coughing more can be a GOOD thing, as the idea is to loosen up and move the goo in her lungs. Wheezing can be an undesired side effect of hypertonic saline in some kids, or it can be a completely different issue. What treatments is your daughter doing? What does her pulmonologist say about the wheezing?
You mention that your daughter used the vest when in the hospital. Are you going through a process to obtain a vest for her for home use? If not, is there a reason why not? Especially as your kid gets older it can be much easier to effectively do CPT with a vest than manually.
Is your daughter pancreatic sufficient? Does she need to take enzymes when she eats? Do you know the results of her fecal elastase test?
I know this can all be very confusing. My kid was diagnosed based on newborn screening, and had borderline sweat test results. And even in an approved CF center, with a firm genetic diagnosis, her low sweat test numbers made the pulmonologist discuss all sorts of possibilities about "mild" CF or CRMS diagnoses, which confused me completely until I could read more and figure things out better. Stick with your CF center, and ask ask ask questions. Obviously we're not CF specialists here, and they're the ones your daughter needs to be treated by, but we can related to your confusion and are happy to talk through what you experience.
Take care!
