Spontaneous Mutation

okok

New member
Yes it is possible...I am not steve but i am getting a pHd in molecular bio if that makes any difference to you. New mutations can arise at any time in the germ cells (the cells that make egg and sperm). Sequencing by ambry will detect them. The other possibility is that you or your husband has two CFTR mutations. It could be that this other mutation does not cause much disease in your husband or you but due to your son's genetics affects him much more severly. I'm really sorry to hear you are going through this!
 

okok

New member
Yes it is possible...I am not steve but i am getting a pHd in molecular bio if that makes any difference to you. New mutations can arise at any time in the germ cells (the cells that make egg and sperm). Sequencing by ambry will detect them. The other possibility is that you or your husband has two CFTR mutations. It could be that this other mutation does not cause much disease in your husband or you but due to your son's genetics affects him much more severly. I'm really sorry to hear you are going through this!
 

okok

New member
Yes it is possible...I am not steve but i am getting a pHd in molecular bio if that makes any difference to you. New mutations can arise at any time in the germ cells (the cells that make egg and sperm). Sequencing by ambry will detect them. The other possibility is that you or your husband has two CFTR mutations. It could be that this other mutation does not cause much disease in your husband or you but due to your son's genetics affects him much more severly. I'm really sorry to hear you are going through this!
 

okok

New member
Yes it is possible...I am not steve but i am getting a pHd in molecular bio if that makes any difference to you. New mutations can arise at any time in the germ cells (the cells that make egg and sperm). Sequencing by ambry will detect them. The other possibility is that you or your husband has two CFTR mutations. It could be that this other mutation does not cause much disease in your husband or you but due to your son's genetics affects him much more severly. I'm really sorry to hear you are going through this!
 

ktsmom

New member
Victoria - this question you have that another one of your children might have CF is also a fear of mine. Irrational probably, but there nonetheless. I think if it is true for us it is probably option #1 that you presented.

I have also read about the spontaneous mutation possiblity and I wonder sometimes if I'm just trying to make stuff up. My other daughter's sweat test was a little too high for my liking, but still within the normal range. It is so hard to let it go sometimes. I wish you luck in getting it all sorted out.


<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>okok</b></i>

Yes it is possible...I am not steve but i am getting a pHd in molecular bio if that makes any difference to you. </end quote></div>

Aha! <b>okok</b>'s expertise revealed!! I have always wondered at your vast amount of knowledge and the way you present it without drawing attention to your now obvious qualifications. It is always clear from your posts that you know what you are talking about.
 

ktsmom

New member
Victoria - this question you have that another one of your children might have CF is also a fear of mine. Irrational probably, but there nonetheless. I think if it is true for us it is probably option #1 that you presented.

I have also read about the spontaneous mutation possiblity and I wonder sometimes if I'm just trying to make stuff up. My other daughter's sweat test was a little too high for my liking, but still within the normal range. It is so hard to let it go sometimes. I wish you luck in getting it all sorted out.


<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>okok</b></i>

Yes it is possible...I am not steve but i am getting a pHd in molecular bio if that makes any difference to you. </end quote></div>

Aha! <b>okok</b>'s expertise revealed!! I have always wondered at your vast amount of knowledge and the way you present it without drawing attention to your now obvious qualifications. It is always clear from your posts that you know what you are talking about.
 

ktsmom

New member
Victoria - this question you have that another one of your children might have CF is also a fear of mine. Irrational probably, but there nonetheless. I think if it is true for us it is probably option #1 that you presented.

I have also read about the spontaneous mutation possiblity and I wonder sometimes if I'm just trying to make stuff up. My other daughter's sweat test was a little too high for my liking, but still within the normal range. It is so hard to let it go sometimes. I wish you luck in getting it all sorted out.


<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>okok</b></i>

Yes it is possible...I am not steve but i am getting a pHd in molecular bio if that makes any difference to you. </end quote></div>

Aha! <b>okok</b>'s expertise revealed!! I have always wondered at your vast amount of knowledge and the way you present it without drawing attention to your now obvious qualifications. It is always clear from your posts that you know what you are talking about.
 

ktsmom

New member
Victoria - this question you have that another one of your children might have CF is also a fear of mine. Irrational probably, but there nonetheless. I think if it is true for us it is probably option #1 that you presented.

I have also read about the spontaneous mutation possiblity and I wonder sometimes if I'm just trying to make stuff up. My other daughter's sweat test was a little too high for my liking, but still within the normal range. It is so hard to let it go sometimes. I wish you luck in getting it all sorted out.


<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>okok</b></i>

Yes it is possible...I am not steve but i am getting a pHd in molecular bio if that makes any difference to you. </end quote></div>

Aha! <b>okok</b>'s expertise revealed!! I have always wondered at your vast amount of knowledge and the way you present it without drawing attention to your now obvious qualifications. It is always clear from your posts that you know what you are talking about.
 

ktsmom

New member
Victoria - this question you have that another one of your children might have CF is also a fear of mine. Irrational probably, but there nonetheless. I think if it is true for us it is probably option #1 that you presented.

I have also read about the spontaneous mutation possiblity and I wonder sometimes if I'm just trying to make stuff up. My other daughter's sweat test was a little too high for my liking, but still within the normal range. It is so hard to let it go sometimes. I wish you luck in getting it all sorted out.


<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>okok</b></i>

Yes it is possible...I am not steve but i am getting a pHd in molecular bio if that makes any difference to you. </end quote>

Aha! <b>okok</b>'s expertise revealed!! I have always wondered at your vast amount of knowledge and the way you present it without drawing attention to your now obvious qualifications. It is always clear from your posts that you know what you are talking about.
 

ktsmom

New member
Victoria - this question you have that another one of your children might have CF is also a fear of mine. Irrational probably, but there nonetheless. I think if it is true for us it is probably option #1 that you presented.

I have also read about the spontaneous mutation possiblity and I wonder sometimes if I'm just trying to make stuff up. My other daughter's sweat test was a little too high for my liking, but still within the normal range. It is so hard to let it go sometimes. I wish you luck in getting it all sorted out.


<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>okok</b></i>

Yes it is possible...I am not steve but i am getting a pHd in molecular bio if that makes any difference to you. </end quote>

Aha! <b>okok</b>'s expertise revealed!! I have always wondered at your vast amount of knowledge and the way you present it without drawing attention to your now obvious qualifications. It is always clear from your posts that you know what you are talking about.
 

vmhoward

New member
The funny thing is I always pick on my husband because I tell him that his kiss is salty. And he has had pneumonia many times throughout his life, not to mention the numerous times he has had ear infections and bronchitis etc... blah blah blah....

In any case, He has a perpetual cough, which is why we went ahead and got the DNA test done on him but since Garran is DDF508 they only did the top 30. Which came back as him being a carrier for DF508.

What I think scares him is if he did go ahead and get the full DNA panel it might actually come back with another mutation and he is afraid of losing his job. and thats a tough decision for him.

I know to me it would not be that difficult of a decision, I would get the test, but to him, it would be devastating not to be able to provide for his family.

Is that selfish maybe...but in the long run, I dont know....would a Dx on my husband make a difference...

I know now I have opened a whole new can of worms....
 

vmhoward

New member
The funny thing is I always pick on my husband because I tell him that his kiss is salty. And he has had pneumonia many times throughout his life, not to mention the numerous times he has had ear infections and bronchitis etc... blah blah blah....

In any case, He has a perpetual cough, which is why we went ahead and got the DNA test done on him but since Garran is DDF508 they only did the top 30. Which came back as him being a carrier for DF508.

What I think scares him is if he did go ahead and get the full DNA panel it might actually come back with another mutation and he is afraid of losing his job. and thats a tough decision for him.

I know to me it would not be that difficult of a decision, I would get the test, but to him, it would be devastating not to be able to provide for his family.

Is that selfish maybe...but in the long run, I dont know....would a Dx on my husband make a difference...

I know now I have opened a whole new can of worms....
 

vmhoward

New member
The funny thing is I always pick on my husband because I tell him that his kiss is salty. And he has had pneumonia many times throughout his life, not to mention the numerous times he has had ear infections and bronchitis etc... blah blah blah....

In any case, He has a perpetual cough, which is why we went ahead and got the DNA test done on him but since Garran is DDF508 they only did the top 30. Which came back as him being a carrier for DF508.

What I think scares him is if he did go ahead and get the full DNA panel it might actually come back with another mutation and he is afraid of losing his job. and thats a tough decision for him.

I know to me it would not be that difficult of a decision, I would get the test, but to him, it would be devastating not to be able to provide for his family.

Is that selfish maybe...but in the long run, I dont know....would a Dx on my husband make a difference...

I know now I have opened a whole new can of worms....
 

vmhoward

New member
The funny thing is I always pick on my husband because I tell him that his kiss is salty. And he has had pneumonia many times throughout his life, not to mention the numerous times he has had ear infections and bronchitis etc... blah blah blah....

In any case, He has a perpetual cough, which is why we went ahead and got the DNA test done on him but since Garran is DDF508 they only did the top 30. Which came back as him being a carrier for DF508.

What I think scares him is if he did go ahead and get the full DNA panel it might actually come back with another mutation and he is afraid of losing his job. and thats a tough decision for him.

I know to me it would not be that difficult of a decision, I would get the test, but to him, it would be devastating not to be able to provide for his family.

Is that selfish maybe...but in the long run, I dont know....would a Dx on my husband make a difference...

I know now I have opened a whole new can of worms....
 

vmhoward

New member
The funny thing is I always pick on my husband because I tell him that his kiss is salty. And he has had pneumonia many times throughout his life, not to mention the numerous times he has had ear infections and bronchitis etc... blah blah blah....

In any case, He has a perpetual cough, which is why we went ahead and got the DNA test done on him but since Garran is DDF508 they only did the top 30. Which came back as him being a carrier for DF508.

What I think scares him is if he did go ahead and get the full DNA panel it might actually come back with another mutation and he is afraid of losing his job. and thats a tough decision for him.

I know to me it would not be that difficult of a decision, I would get the test, but to him, it would be devastating not to be able to provide for his family.

Is that selfish maybe...but in the long run, I dont know....would a Dx on my husband make a difference...

I know now I have opened a whole new can of worms....
 

vmhoward

New member
The funny thing is I always pick on my husband because I tell him that his kiss is salty. And he has had pneumonia many times throughout his life, not to mention the numerous times he has had ear infections and bronchitis etc... blah blah blah....

In any case, He has a perpetual cough, which is why we went ahead and got the DNA test done on him but since Garran is DDF508 they only did the top 30. Which came back as him being a carrier for DF508.

What I think scares him is if he did go ahead and get the full DNA panel it might actually come back with another mutation and he is afraid of losing his job. and thats a tough decision for him.

I know to me it would not be that difficult of a decision, I would get the test, but to him, it would be devastating not to be able to provide for his family.

Is that selfish maybe...but in the long run, I dont know....would a Dx on my husband make a difference...

I know now I have opened a whole new can of worms....
 

my65roses4me

New member
I find this post so interesting because I have never heard of spontaneous mutations. How scary is that!!!
When are they created? Is like the other genes, are we born with them and they show up later? Or are they created later in life?
This brings up so many questions. What about the CFers that are thinking about having kids? We have our spouses checked for mutations and it comes back negative, does that mean it can show up later?

Vicky,
I am just curious about something you said. Why would your hubby lose his job if he is tested positive? Call me air headed but I dont get it. LOL
 

my65roses4me

New member
I find this post so interesting because I have never heard of spontaneous mutations. How scary is that!!!
When are they created? Is like the other genes, are we born with them and they show up later? Or are they created later in life?
This brings up so many questions. What about the CFers that are thinking about having kids? We have our spouses checked for mutations and it comes back negative, does that mean it can show up later?

Vicky,
I am just curious about something you said. Why would your hubby lose his job if he is tested positive? Call me air headed but I dont get it. LOL
 

my65roses4me

New member
I find this post so interesting because I have never heard of spontaneous mutations. How scary is that!!!
When are they created? Is like the other genes, are we born with them and they show up later? Or are they created later in life?
This brings up so many questions. What about the CFers that are thinking about having kids? We have our spouses checked for mutations and it comes back negative, does that mean it can show up later?

Vicky,
I am just curious about something you said. Why would your hubby lose his job if he is tested positive? Call me air headed but I dont get it. LOL
 

my65roses4me

New member
I find this post so interesting because I have never heard of spontaneous mutations. How scary is that!!!
When are they created? Is like the other genes, are we born with them and they show up later? Or are they created later in life?
This brings up so many questions. What about the CFers that are thinking about having kids? We have our spouses checked for mutations and it comes back negative, does that mean it can show up later?

Vicky,
I am just curious about something you said. Why would your hubby lose his job if he is tested positive? Call me air headed but I dont get it. LOL
 
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