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Question on diagnosis

N

Numanoid

New member
I recently got diagnosed with CBVAD after fertility issues and one of the tests I took was for CF.  They tested 97 common mutations and found 1, meaning I was a carrier.<br><br>Next step was to have my wife tested and we were referred to a genetic counselor.  My urologist told me it wouldn't be a bad idea to test against all possible mutations.<br><br>My wife called the counselor and explained the situation.  I had her ask if I should be included and she responded that "I most likely have a second mutation" and I should get tested to ensure it is managed.<br><br>Does this sound legitimate to you?  I've read a bit on the subject and there is a massive disparity between carriers and those who actually have CF.  Several sites state 10 million carriers and 30,000 diagnosed.  Why does this counselor automatically believe I have CF?<br><br>I am 38 and asymptomatic.  I've never had any chronic lung or digestive problems.<br><br>I'm not against taking the full test, but I don't want to spend a ton of money if it's not warranted.  I've read that 1 in 29 people are CF carriers.  Do they all need to get fully tested or is this just a money grab?  I have an HSA for insurance and can't afford to take expensive tests on a whim.<br><br>Thanks for any insight you can provide.<br><br><br>
 
N

Numanoid

New member
I recently got diagnosed with CBVAD after fertility issues and one of the tests I took was for CF. They tested 97 common mutations and found 1, meaning I was a carrier.<br><br>Next step was to have my wife tested and we were referred to a genetic counselor. My urologist told me it wouldn't be a bad idea to test against all possible mutations.<br><br>My wife called the counselor and explained the situation. I had her ask if I should be included and she responded that "I most likely have a second mutation" and I should get tested to ensure it is managed.<br><br>Does this sound legitimate to you? I've read a bit on the subject and there is a massive disparity between carriers and those who actually have CF. Several sites state 10 million carriers and 30,000 diagnosed. Why does this counselor automatically believe I have CF?<br><br>I am 38 and asymptomatic. I've never had any chronic lung or digestive problems.<br><br>I'm not against taking the full test, but I don't want to spend a ton of money if it's not warranted. I've read that 1 in 29 people are CF carriers. Do they all need to get fully tested or is this just a money grab? I have an HSA for insurance and can't afford to take expensive tests on a whim.<br><br>Thanks for any insight you can provide.<br><br><br>
 
N

Numanoid

New member
I recently got diagnosed with CBVAD after fertility issues and one of the tests I took was for CF. They tested 97 common mutations and found 1, meaning I was a carrier.<br><br>Next step was to have my wife tested and we were referred to a genetic counselor. My urologist told me it wouldn't be a bad idea to test against all possible mutations.<br><br>My wife called the counselor and explained the situation. I had her ask if I should be included and she responded that "I most likely have a second mutation" and I should get tested to ensure it is managed.<br><br>Does this sound legitimate to you? I've read a bit on the subject and there is a massive disparity between carriers and those who actually have CF. Several sites state 10 million carriers and 30,000 diagnosed. Why does this counselor automatically believe I have CF?<br><br>I am 38 and asymptomatic. I've never had any chronic lung or digestive problems.<br><br>I'm not against taking the full test, but I don't want to spend a ton of money if it's not warranted. I've read that 1 in 29 people are CF carriers. Do they all need to get fully tested or is this just a money grab? I have an HSA for insurance and can't afford to take expensive tests on a whim.<br><br>Thanks for any insight you can provide.<br><br><br>
 
H

Havoc

New member
I think it's a very reasonable thing to do, for 2 reasons:

1. As she mentioned, if you truly do have CF, you'll want to know so you can manage it properly.

2. Having 2 mutations increases your chances of having a child with CF, should your wife also have a mutation, and it means that your children will be carriers themselves.

CBAVD makes up about 1-2% of infertility in men, it is often (but not always) caused by mutations in the CFTR (the gene that causes CF). The reason is that the CFTR controls chloride ions' movement across the cell membrane. The disruption of these ions leads to an imbalance which affects the way water moves across the membrane as well. Water always follows a concentration gradient, with more ions on the inside, water flows in to try and maintain homeostasis. This leaves mucus membranes drier than normal and the normally slippery mucus becomes thick and sticky. In the genitourinary tract, this causes a blockage of the Vas Deferens and the VD deteriorate, usually before birth.

I could not find any literature that suggested that you have to have 2 copies of a mutated CFTR to have CBAVD, meaning it might be possible that you could have the defect as a carrier.

I'll keep looking for NIH studies, but we kind of have crossed a line between genetics and urology. I would ask more questions about the prevalence of men who have CBAVD who are carriers only. That might help steer your decision.

Good luck.
 
H

Havoc

New member
I think it's a very reasonable thing to do, for 2 reasons:

1. As she mentioned, if you truly do have CF, you'll want to know so you can manage it properly.

2. Having 2 mutations increases your chances of having a child with CF, should your wife also have a mutation, and it means that your children will be carriers themselves.

CBAVD makes up about 1-2% of infertility in men, it is often (but not always) caused by mutations in the CFTR (the gene that causes CF). The reason is that the CFTR controls chloride ions' movement across the cell membrane. The disruption of these ions leads to an imbalance which affects the way water moves across the membrane as well. Water always follows a concentration gradient, with more ions on the inside, water flows in to try and maintain homeostasis. This leaves mucus membranes drier than normal and the normally slippery mucus becomes thick and sticky. In the genitourinary tract, this causes a blockage of the Vas Deferens and the VD deteriorate, usually before birth.

I could not find any literature that suggested that you have to have 2 copies of a mutated CFTR to have CBAVD, meaning it might be possible that you could have the defect as a carrier.

I'll keep looking for NIH studies, but we kind of have crossed a line between genetics and urology. I would ask more questions about the prevalence of men who have CBAVD who are carriers only. That might help steer your decision.

Good luck.
 
H

Havoc

New member
I think it's a very reasonable thing to do, for 2 reasons:
<br />
<br />1. As she mentioned, if you truly do have CF, you'll want to know so you can manage it properly.
<br />
<br />2. Having 2 mutations increases your chances of having a child with CF, should your wife also have a mutation, and it means that your children will be carriers themselves.
<br />
<br />CBAVD makes up about 1-2% of infertility in men, it is often (but not always) caused by mutations in the CFTR (the gene that causes CF). The reason is that the CFTR controls chloride ions' movement across the cell membrane. The disruption of these ions leads to an imbalance which affects the way water moves across the membrane as well. Water always follows a concentration gradient, with more ions on the inside, water flows in to try and maintain homeostasis. This leaves mucus membranes drier than normal and the normally slippery mucus becomes thick and sticky. In the genitourinary tract, this causes a blockage of the Vas Deferens and the VD deteriorate, usually before birth.
<br />
<br />I could not find any literature that suggested that you have to have 2 copies of a mutated CFTR to have CBAVD, meaning it might be possible that you could have the defect as a carrier.
<br />
<br />I'll keep looking for NIH studies, but we kind of have crossed a line between genetics and urology. I would ask more questions about the prevalence of men who have CBAVD who are carriers only. That might help steer your decision.
<br />
<br />Good luck.
 
H

Havoc

New member
On further reading, it does seem that one can have an atypical form of CF where CBAVD is present, but no respiratory or digestive symptoms. It did not say whether this was in the presence of just one or both recessive genes. That was a from a publication of Cornell Univ.
 
H

Havoc

New member
On further reading, it does seem that one can have an atypical form of CF where CBAVD is present, but no respiratory or digestive symptoms. It did not say whether this was in the presence of just one or both recessive genes. That was a from a publication of Cornell Univ.
 
H

Havoc

New member
On further reading, it does seem that one can have an atypical form of CF where CBAVD is present, but no respiratory or digestive symptoms. It did not say whether this was in the presence of just one or both recessive genes. That was a from a publication of Cornell Univ.
 
B

Beccamom

New member
I would recommend getting the full gene analysis as stated above.

I have a daughter with a CF variant M470V that is associated with CBVAD without one known CF causing mutation. We were told this polymorphism would only be a problem if she passed this variant to a son. If you found out about your gene because you are planning a family it seems that you would also want to know your chances of having a child with CF even to ensure the child has the best early care possible. I have an 11 year old who was misdiagnosed for 11 years and only began appropriate treatment in the past few months. She has 1 known mutation and is in limbo for a formal diagnosis, but she also has permanent lung damage that we did not get a chance to try to prevent. Best wishes with beginning your family.
 
B

Beccamom

New member
I would recommend getting the full gene analysis as stated above.

I have a daughter with a CF variant M470V that is associated with CBVAD without one known CF causing mutation. We were told this polymorphism would only be a problem if she passed this variant to a son. If you found out about your gene because you are planning a family it seems that you would also want to know your chances of having a child with CF even to ensure the child has the best early care possible. I have an 11 year old who was misdiagnosed for 11 years and only began appropriate treatment in the past few months. She has 1 known mutation and is in limbo for a formal diagnosis, but she also has permanent lung damage that we did not get a chance to try to prevent. Best wishes with beginning your family.
 
B

Beccamom

New member
I would recommend getting the full gene analysis as stated above.
<br />
<br />I have a daughter with a CF variant M470V that is associated with CBVAD without one known CF causing mutation. We were told this polymorphism would only be a problem if she passed this variant to a son. If you found out about your gene because you are planning a family it seems that you would also want to know your chances of having a child with CF even to ensure the child has the best early care possible. I have an 11 year old who was misdiagnosed for 11 years and only began appropriate treatment in the past few months. She has 1 known mutation and is in limbo for a formal diagnosis, but she also has permanent lung damage that we did not get a chance to try to prevent. Best wishes with beginning your family.
<br />
 
P

Printer

Active member
You were tested for 97 mutations but there are more than 1500 mutations, any one of them would move you from being a carrier to having CF. If it were me, I would NEED to know.

Bill
 
P

Printer

Active member
You were tested for 97 mutations but there are more than 1500 mutations, any one of them would move you from being a carrier to having CF. If it were me, I would NEED to know.

Bill
 
P

Printer

Active member
You were tested for 97 mutations but there are more than 1500 mutations, any one of them would move you from being a carrier to having CF. If it were me, I would NEED to know.
<br />
<br />Bill
 
S

sa5m1996

New member
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
 
S

sa5m1996

New member
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
 
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