R117H

dyza

New member
This a class IV mutation, which generally means that it comes with pancreatic sufficiency. It tends to throw up late diagnosis. There was some talk a few years ago of some European countries (France being one) of them removing this mutation from their CF Diagnosis list.

But Saveferris, and others are quite correct, in that there are other factors to any outcomes. Our DS has this mutation, I also have it twice.

Craig
 

dyza

New member
This a class IV mutation, which generally means that it comes with pancreatic sufficiency. It tends to throw up late diagnosis. There was some talk a few years ago of some European countries (France being one) of them removing this mutation from their CF Diagnosis list.

But Saveferris, and others are quite correct, in that there are other factors to any outcomes. Our DS has this mutation, I also have it twice.

Craig
 

dyza

New member
This a class IV mutation, which generally means that it comes with pancreatic sufficiency. It tends to throw up late diagnosis. There was some talk a few years ago of some European countries (France being one) of them removing this mutation from their CF Diagnosis list.

But Saveferris, and others are quite correct, in that there are other factors to any outcomes. Our DS has this mutation, I also have it twice.

Craig
 

dyza

New member
This a class IV mutation, which generally means that it comes with pancreatic sufficiency. It tends to throw up late diagnosis. There was some talk a few years ago of some European countries (France being one) of them removing this mutation from their CF Diagnosis list.

But Saveferris, and others are quite correct, in that there are other factors to any outcomes. Our DS has this mutation, I also have it twice.

Craig
 

dyza

New member
This a class IV mutation, which generally means that it comes with pancreatic sufficiency. It tends to throw up late diagnosis. There was some talk a few years ago of some European countries (France being one) of them removing this mutation from their CF Diagnosis list.
<br />
<br />But Saveferris, and others are quite correct, in that there are other factors to any outcomes. Our DS has this mutation, I also have it twice.
<br />
<br />Craig
 

janddburke

New member
my daughter has R117h with W1282X.
she is PS. we didn't even realize it for the first 5 years because the protocol at the time was enzymes for all.

she has mostly mild respiratory symptoms that CANNOT be ignored since they have the habit of flaring up with VERY LITTLE notice and can be quite serious in a short amount of time.

from what I've seen and read R117h is associated with more mild symptoms, but as with everything else with this disease, there are no guarantees. only guidelines.
 

janddburke

New member
my daughter has R117h with W1282X.
she is PS. we didn't even realize it for the first 5 years because the protocol at the time was enzymes for all.

she has mostly mild respiratory symptoms that CANNOT be ignored since they have the habit of flaring up with VERY LITTLE notice and can be quite serious in a short amount of time.

from what I've seen and read R117h is associated with more mild symptoms, but as with everything else with this disease, there are no guarantees. only guidelines.
 

janddburke

New member
my daughter has R117h with W1282X.
she is PS. we didn't even realize it for the first 5 years because the protocol at the time was enzymes for all.

she has mostly mild respiratory symptoms that CANNOT be ignored since they have the habit of flaring up with VERY LITTLE notice and can be quite serious in a short amount of time.

from what I've seen and read R117h is associated with more mild symptoms, but as with everything else with this disease, there are no guarantees. only guidelines.
 

janddburke

New member
my daughter has R117h with W1282X.
she is PS. we didn't even realize it for the first 5 years because the protocol at the time was enzymes for all.

she has mostly mild respiratory symptoms that CANNOT be ignored since they have the habit of flaring up with VERY LITTLE notice and can be quite serious in a short amount of time.

from what I've seen and read R117h is associated with more mild symptoms, but as with everything else with this disease, there are no guarantees. only guidelines.
 

janddburke

New member
my daughter has R117h with W1282X.
<br />she is PS. we didn't even realize it for the first 5 years because the protocol at the time was enzymes for all.
<br />
<br />she has mostly mild respiratory symptoms that CANNOT be ignored since they have the habit of flaring up with VERY LITTLE notice and can be quite serious in a short amount of time.
<br />
<br />from what I've seen and read R117h is associated with more mild symptoms, but as with everything else with this disease, there are no guarantees. only guidelines.
 
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