Phil929
As everyone else has already said -- yes, it all sounds very common and yes it is very good that the doctors are following through -- I know it doesn't sound that great at the moment, but to have a doctor agree to give full genetic testing is very very helpful... many parents agonize knowing their child might have CF but cannot get the doctor or insurance company to agree to full genetic testing, so even though it doesn't feel that way right now... count yourself among the lucky (for having a great doctor who is willing to pursue this)
Yes, it is very possible to have a false positive with just the screening but add to that the 43 sweat test and it does start to look a little suspicious. <b>Please read the first page of my blog </b>-- both my kids have normal/borderline sweat test numbers -- and have very few CF symptoms with later onset as well. Had it not been for the genetic testing we would not have known -- in fact my daughter was sweat tested 3 times when she was 5 and they kept telling me she did not have CF because she was in the normal range (38) just two points under. There is now some talk of lowering the sweat test numbers ... I really hope that happens -- as it might make things easier for a lot of people -- my daughter went without the correct treatment for 8 years because she had a normal number.... we are very lucky she didn't suffer any ill effects because of the misdiagnoses.
And just to clarify for you, it is usually referred to as "gene" rather than "strain" for CF. Yes it is possible she only has one that shows up for now on the genetic test and it may be years before they discover what the other one is. But also like the other poster mentioned there are at least 1541 CF genes identified now ..(some people report 1800) When they first started genetic testing they had only identified 400, so the list is getting larger all the time.
You asked does the disease come in may different degrees.... the better answer to that might be to think of as a spectrum, some people are more on the mild end and others are more on the severe end with everything in between. But the one thing that does not change is it is progressive. We all work very hard to try and do our best to keep that progression as slow as possible. But many people are finding they are staying more on the mild side for many more years than before, especially since we now have Tobi and Pulmozyme, this has really helped keep the lungs in much better shape for many more years than used to be possible.
It sounds like (if you daughter does have CF) she is pancreatic sufficient. This would make a big difference in her health too -- generally speaking if you don't have to worry about the body's ability to gain nutrients from the food it gets it's far easier to remain healthy and or fight off infection if you can easily maintain good weight and BMI.
While the list of symptoms/problems those with CF experience are all very similar not all people experience all of the same problems by the same age or if ever -- it really does vary quite a bit -- even in identical twins, their presentation can be very different. You just never know.
Hang in there, I know it's tough... we've all been through something very similar and understand how you are feeling. Feel free to keep asking questions and keep venting your frustration.
As everyone else has already said -- yes, it all sounds very common and yes it is very good that the doctors are following through -- I know it doesn't sound that great at the moment, but to have a doctor agree to give full genetic testing is very very helpful... many parents agonize knowing their child might have CF but cannot get the doctor or insurance company to agree to full genetic testing, so even though it doesn't feel that way right now... count yourself among the lucky (for having a great doctor who is willing to pursue this)
Yes, it is very possible to have a false positive with just the screening but add to that the 43 sweat test and it does start to look a little suspicious. <b>Please read the first page of my blog </b>-- both my kids have normal/borderline sweat test numbers -- and have very few CF symptoms with later onset as well. Had it not been for the genetic testing we would not have known -- in fact my daughter was sweat tested 3 times when she was 5 and they kept telling me she did not have CF because she was in the normal range (38) just two points under. There is now some talk of lowering the sweat test numbers ... I really hope that happens -- as it might make things easier for a lot of people -- my daughter went without the correct treatment for 8 years because she had a normal number.... we are very lucky she didn't suffer any ill effects because of the misdiagnoses.
And just to clarify for you, it is usually referred to as "gene" rather than "strain" for CF. Yes it is possible she only has one that shows up for now on the genetic test and it may be years before they discover what the other one is. But also like the other poster mentioned there are at least 1541 CF genes identified now ..(some people report 1800) When they first started genetic testing they had only identified 400, so the list is getting larger all the time.
You asked does the disease come in may different degrees.... the better answer to that might be to think of as a spectrum, some people are more on the mild end and others are more on the severe end with everything in between. But the one thing that does not change is it is progressive. We all work very hard to try and do our best to keep that progression as slow as possible. But many people are finding they are staying more on the mild side for many more years than before, especially since we now have Tobi and Pulmozyme, this has really helped keep the lungs in much better shape for many more years than used to be possible.
It sounds like (if you daughter does have CF) she is pancreatic sufficient. This would make a big difference in her health too -- generally speaking if you don't have to worry about the body's ability to gain nutrients from the food it gets it's far easier to remain healthy and or fight off infection if you can easily maintain good weight and BMI.
While the list of symptoms/problems those with CF experience are all very similar not all people experience all of the same problems by the same age or if ever -- it really does vary quite a bit -- even in identical twins, their presentation can be very different. You just never know.
Hang in there, I know it's tough... we've all been through something very similar and understand how you are feeling. Feel free to keep asking questions and keep venting your frustration.