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re: re: End of this path... Dec. 14th, 2007 9:27pm
Hi Kat,
I feel kind of ambivalent about that news - good on one hand but not so good on another! For your daughter's sake to get some resolution to the ongoing health saga would be such a relief. It becomes such a roundabout of testing, all the while "feeling sick and tired of feeling sick and tired".
You have been such a diligent researcher and you have helped and contributed positively to so many other people's issues on this board that we will miss your input. I for one will very much! I like the various tangents and paths that researching something leads one down and you have looked at them all.
You must feel floored and wonder where to go next. Take on board M1's suggestion about the possibility of an incorrect mutation assessment. Otherwise I hope that somewhere, something will trigger a connection in some doctors mind and they will follow through. (In my current search for health answers - not CAH related, someone mentioned Mitochondrial Cytopathies and I am persuing that path and a whole lot is making sense).
Won't it be great (or maybe not) when one day we will be able to do a finger prick test and our whole genome and mutations will come up in an instant and we will be able to diagnose and treat some of these things before they become chronic!!
I wish you all the best and please duck in from time to time to let us know progress or otherwise!