It would definitely be worth finding out if both mutations were on the same chromosome, since people can carry more than one and pass that single mutated gene on to their child (that is how the occasional baby with cf has 3 mutations.) That would not mean that one is benign but rather that you are a carrier and not a person with cf. As we all know, some carriers are symptomatic and that could be complicating your health (just like Shawn being a df508 carrier complicates his health with his asthma- his pft's are low enough to qualify for a lung disease dx.) Testing your parents just for your mutations could clear that up. For that matter, testing just ONE of your parents would clear that up- one parent would have either one, both, or none- simple elimination would tell you what the other parent carries. Genetic sequencing only looks at the cftr gene, I believe, so only yields results that are relevant to the disease. It really stinks that not even NPD is 100% accurate in ruling in/out the disease unless done jussssst right. I would think that it would have to be done under ideal circumstances to attain that high level of accuracy (We can agree to disagree on that, I don't mind... our accredited dr told us what he did and I have no reason not to believe him, just as you believe yours- so there is room to simply believe accuracy is important regardless of results. <img src="i/expressions/face-icon-small-wink.gif" border="0"> ) I don't think it's fair at ALL for any of your care providers to think you 'wanted' this dx, as you have fought hard to disprove it and never would have ordered the tests if you 'wanted' the dx- you HAD the dx without all those tests. Why would you have wanted the test if you were content with the dx?!? I hope things can be worked out. I am glad you've been taken off the registry. I think the registry is a valuable tool and that as many people as possible should be on it, but until your other health conditions can be completely clarified, it would serve to cause more confusion than not. I just wish YOU had the answers you needed so your care could be better managed (needing frequent intubation is very scary and if there was a way to prevent it that's not yet been found- if only you could!) <img src="i/expressions/heart.gif" border="0"> So NONE Of this CF stuff is simple. There are SO MANY shades of gray. In our case NPD ruled out CF. If things ever looked suspicious again in future we have another test we could try- testing Shawn for CBAVD, our last resort. It would be a powerful indicator that just maybe the NPD wasn't as accurate as we hoped. But for now, NPD is VERY STRONG evidence that 'symptomatic carrier' fits (make that a salty carrier- but even at 54, that's only half the score his sister had- she scored 108 and 2nd test confirmed) and we will continue to manage asthma and I have no worries unless his health took a big turn for the worse. I hope the rest of you here needing more answers get them! This test is a valuable tool. <img src="i/expressions/face-icon-small-smile.gif" border="0">
eta> I changed my response a bit since I didn't see your email response till after I posted.
eta> I changed my response a bit since I didn't see your email response till after I posted.