Question on diagnosis

sa5m1996 · Jul 28, 2011

Hi The test only identified one but you could have 2. The test only can identify the most common ones. There are 1500, at least, other mutation variations. These test only include 100 of the most common CF genes. If you have one of the other 1400, it will not be picked up without further genetic testing. So how do you distinguish if you are a carrier or you have both genes? The other test help physicians determine that as well as additional gene type test. Both my children have CF. Only one gene has been identified because they do not have classic CF. MY husband has one gene and I have the other, we are the carriers. This disease is very complicated. They do not have the answers for us we would like. You need to speak to a CF physician in a CF center. We live in NY and we were in the most prostigious hospital there is. My daughter saw the head CF doctor there and I was not impressed. She could not answer my questions. With a recommendation I changed CF centers and the doctor I have keeps up with the latest research and was able to answer questions that I read about new drug research and where we are in are understanding of this disease. We are in the infancy stages of understanding how genes work and mutate. I personally believe we are in the prenatal stage. I suggust that you do not panic but continue to write down your questions and if you do not get answers to your satisfaction youmay need to look elsewhere. Good luck! christine k<BR>

Laura47 · Jul 31, 2011

Since you have CBAVD, you have a 5T polymorphism, which has been found to be a genetic variant causing a mild form of CF. I was the first person to be diagnosed with CF with a homozygous 5T variant - even had an article published about me. What they have discovered is that many men with CBAVD with no other known mutation other than the 5T polymorphism, have mild forms of CF. Given the fact that you have one known mutation and CBAVD, I would suspect that you do, indeed, have CF. You should see a CF specialist and discuss this with him/her and talk over the necessity of further testing.

Laura47 · Jul 31, 2011

Since you have CBAVD, you have a 5T polymorphism, which has been found to be a genetic variant causing a mild form of CF. I was the first person to be diagnosed with CF with a homozygous 5T variant - even had an article published about me. What they have discovered is that many men with CBAVD with no other known mutation other than the 5T polymorphism, have mild forms of CF. Given the fact that you have one known mutation and CBAVD, I would suspect that you do, indeed, have CF. You should see a CF specialist and discuss this with him/her and talk over the necessity of further testing.

Laura47 · Jul 31, 2011

Since you have CBAVD, you have a 5T polymorphism, which has been found to be a genetic variant causing a mild form of CF. I was the first person to be diagnosed with CF with a homozygous 5T variant - even had an article published about me. What they have discovered is that many men with CBAVD with no other known mutation other than the 5T polymorphism, have mild forms of CF. Given the fact that you have one known mutation and CBAVD, I would suspect that you do, indeed, have CF. You should see a CF specialist and discuss this with him/her and talk over the necessity of further testing.

LouLou · Jul 31, 2011