Newborn testing shows R117H (from father) and S1235R AND R785X (from mother)

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Gramma58

Guest
Thanks for replying, it's never too late to get more information. He is still doing completely fine, goes to mother's morning out classes twice a week, has no symptoms of any kind. We are so encouraged and hopeful that he will stay that way. I will always want anyone with info on this gene combination, or any individual gene, to update me. Thanks, Kathy
 

zaj1139

New member
Not sure if you are still checking in on this post but my grandchild has three mutations too and I was told CF is CF you cannot predict the outcome even if they have 3 versus two. I would also like to know what "class" they are. I had not heard of that before. If anyone can enlighten me too that would be great.
 

zaj1139

New member
Not sure if you are still checking in on this post but my grandchild has three mutations too and I was told CF is CF you cannot predict the outcome even if they have 3 versus two. I would also like to know what "class" they are. I had not heard of that before. If anyone can enlighten me too that would be great.
 

zaj1139

New member
Not sure if you are still checking in on this post but my grandchild has three mutations too and I was told CF is CF you cannot predict the outcome even if they have 3 versus two. I would also like to know what "class" they are. I had not heard of that before. If anyone can enlighten me too that would be great.
 

NYCLawGirl

New member
mutations are ranked in "class" from class 5 (i think, it might be 4) to class 1. class 1 is generally considered the worst because it means the ion transfer is completely inhibited. BUT this gets a little sketchy for a couple of reasons:

1) most people think that DF508 is the "most severe" mutation and that people with two of these genes (double deltas) have the "most severe" presentation of CF. in reality, DF508 is a class 2 mutation.

2) the LEAST SEVERE mutation control -- so if you have a class 4 and a class 2 (DF508 and a more "mild" mutation, for example), the official "prognosis" is that your CF will follow the course of the class 4 mutation and your symptoms will either be "mild" or "late onset." most "atypical" or "mild" or whatever CFers also have a DF508 gene, just because that is by far the most common.

3) finally, there is very little consensus even within the medical community about what mutations mean. my doc and i had a long convo once where i was told "look, we can sit here and hypothesis all we want. the simply fact is that MOST CFers with so-called "mild" mutations have fewer symptoms than people with more severe mutations. but knowing that doesn't do you much good when you're treating a patient who medically speaking SHOULD have "mild" CF because of their mutations but instead needs a lung transplant. and that does happen." i thought that was a great explanation. yes, medical science can maybe make some generalizations like "people with certain mutations often live longer" or whatever (and there is some truth to that), but in the end each patient is different and you need a doctor willing to look at the WHOLE picture, not just mutations and generalized, textbook predictions. most people only get chicken pox once, after all, but i got it twice -- and it was no less "real" the second time around.
 

NYCLawGirl

New member
mutations are ranked in "class" from class 5 (i think, it might be 4) to class 1. class 1 is generally considered the worst because it means the ion transfer is completely inhibited. BUT this gets a little sketchy for a couple of reasons:

1) most people think that DF508 is the "most severe" mutation and that people with two of these genes (double deltas) have the "most severe" presentation of CF. in reality, DF508 is a class 2 mutation.

2) the LEAST SEVERE mutation control -- so if you have a class 4 and a class 2 (DF508 and a more "mild" mutation, for example), the official "prognosis" is that your CF will follow the course of the class 4 mutation and your symptoms will either be "mild" or "late onset." most "atypical" or "mild" or whatever CFers also have a DF508 gene, just because that is by far the most common.

3) finally, there is very little consensus even within the medical community about what mutations mean. my doc and i had a long convo once where i was told "look, we can sit here and hypothesis all we want. the simply fact is that MOST CFers with so-called "mild" mutations have fewer symptoms than people with more severe mutations. but knowing that doesn't do you much good when you're treating a patient who medically speaking SHOULD have "mild" CF because of their mutations but instead needs a lung transplant. and that does happen." i thought that was a great explanation. yes, medical science can maybe make some generalizations like "people with certain mutations often live longer" or whatever (and there is some truth to that), but in the end each patient is different and you need a doctor willing to look at the WHOLE picture, not just mutations and generalized, textbook predictions. most people only get chicken pox once, after all, but i got it twice -- and it was no less "real" the second time around.
 

NYCLawGirl

New member
mutations are ranked in "class" from class 5 (i think, it might be 4) to class 1. class 1 is generally considered the worst because it means the ion transfer is completely inhibited. BUT this gets a little sketchy for a couple of reasons:
<br />
<br />1) most people think that DF508 is the "most severe" mutation and that people with two of these genes (double deltas) have the "most severe" presentation of CF. in reality, DF508 is a class 2 mutation.
<br />
<br />2) the LEAST SEVERE mutation control -- so if you have a class 4 and a class 2 (DF508 and a more "mild" mutation, for example), the official "prognosis" is that your CF will follow the course of the class 4 mutation and your symptoms will either be "mild" or "late onset." most "atypical" or "mild" or whatever CFers also have a DF508 gene, just because that is by far the most common.
<br />
<br />3) finally, there is very little consensus even within the medical community about what mutations mean. my doc and i had a long convo once where i was told "look, we can sit here and hypothesis all we want. the simply fact is that MOST CFers with so-called "mild" mutations have fewer symptoms than people with more severe mutations. but knowing that doesn't do you much good when you're treating a patient who medically speaking SHOULD have "mild" CF because of their mutations but instead needs a lung transplant. and that does happen." i thought that was a great explanation. yes, medical science can maybe make some generalizations like "people with certain mutations often live longer" or whatever (and there is some truth to that), but in the end each patient is different and you need a doctor willing to look at the WHOLE picture, not just mutations and generalized, textbook predictions. most people only get chicken pox once, after all, but i got it twice -- and it was no less "real" the second time around.
 
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