Posted by Tracy on October 25, 2010 at 17:00:10:
In Reply to: Re: What a week ! posted by Lib on October 25, 2010 at 04:39:41:
My point was not so much the fact of finding out the mutation and confirming CF but of the possibility that it isn't CF at all, therefore potentially ruling it out, and taking the focus off CF and potentially finding out what is the problem...
From what I have read over the many years of Sonia being a part of this community, for someone that is *atypical* and mild, the progression and rate at which Sonia is deteriorating and the amount of exacerbations throughout the year experienced, is quite scary, and once the damage has been done it will, and is irreversible....
So yes, given a mutation may mean very little, and the symptoms need to be treated, which is all well and good if you are not deteriorating, which is not the case here, but in order to preserve life, preventative measures also need to be put in place....
The underlying question is What if it isn't CF afterall? It's no consolation prize once you lose lung function and the damage is done...and by the sounds of things, hypoxia, damage is already happening, and what if, all these years the damage could have been prevented by knowing an exact diagnosis...
and what if it is CF, I hear you ask, it will have solved nothing... I don't believe it will solve nothing, maybe to me nothing,and to you nothing, but I believe to Sonia it will mean a lot as she has been asking the same question for almost a decade that I have known her...