reactive airway disease and CF

[JolynnD]

My 5 year old daughter was tested for CF in April.  3 sweat tests came back abnormal but not high enough to be diagnosed.  Her last test was 58, just a hop away from a diagnosis.  Gene testing was performed and she turned out negative for the 70 most common mutations of the gene.  She has always had the digestive issues, oily stool, not digesting certain vitamins.  She has now been diagnosed with Reactive Airway Disease.  She is taking Pulmicort, Augmentin, Codimal, and Rhinocort.  She took a breathing treatment at the peds. office and he said she sounded somewhat better afterwards.  My question is this, should I push for her to be retested through DNA with the more sensitive test which picks up 800 mutations?  My family is urging me to do this.  I just wonder that since her sweat chloride test was so high but not quite high enough, could she have one of the uncommon mutations?  She was tested at a CF clinic.  Thanks for any advice.

[National Jewish]

I would recommend that your daughter be seen at a children's hospital or university setting.  At a clinic like this pediatric pulmonologists see children with situations like your daughter’s on a regular basis.  This type of specialist can be of help to answer your immediate questions.  In addition they can help provide an ongoing plan for both diagnostic testing and care.  If such a clinic is not available in your area, you might consider a short trip to National Jewish Medical and Research Center.  Here we have an entire team devoted to problems such as these.