Thanks for all the replies, I was happy to read them while I was gone. What a stressful situation we are in. Of course, it would be lovely if we are not in fact dealing with CF. That said, we have all the symptoms that still require treatment. But, I have always maintained that if we cannot get a diagnosis, I at least want Owen treated for his symptoms and I believe we might get that now, at this CF clinic. We shall see.
We are waiting for our Ambry results. He has had testing before which showed polymorphisms. Of course, with those and symptoms, it seems like we have some research to do. Mayo never gave his list of morphisms so I have no idea what they are or if they are known to cause disease. The way things seem to go with us, the results won't likely offer any answers so I know it will be good to get them back but I am not holding my breath that it will help. Being borderline is a real drag.
I am not prepared to go somewhere else, like out of state, but it does cross my mind that if there was a fantastic doctor somewhere else who might clarify what else might cause these symptoms, I would certainly entertain the idea. But, we have also been there done that before with no great success. I am hoping that I won't get kicked out of this forum without a diagnosis, and that with time and research, an answer will come. In the meantime, because of all of the help we have gotten here, we are treating with Creon, CPT and inhalers. So, I guess that is the best we can hope for for now. Thanks a million for being there for me.
And just a side note, I did bring my friend with to that last appt. and it was very interesting having her there. She "challenged" the doctors to look through her son's file because he had borderline sweat tests, no known mutations (at that time) and yet his symptoms were so bad from years of not getting the right tx that he died when he was in his early 30's. Their old supervising doctor (Dr. Warwick) was the one who diagnosed him with CF when he was 19, without the diagnostic tests. He got some good years of treatment but it wasn't enough to repair the damage that had been done from everyone else writing off the CF diagnosis. What a powerful story, yet, it offered to consolation to us <img src="i/expressions/face-icon-small-sad.gif" border="0"> Too bad Dr. Warwick is retired...
