R117C/R117H

G

gunelle

Guest
I have come across both R117C (which I have) and R117H, which some people on this forum have, and when I see the R117 I am curious to learn more about them, to see if they are similar to me, but then I see the H instad of C. I have mild cf with sinus problems and I read that this is also the case with many R117H. They look the same, but are they similar or different?

Does anyone know?

Thanks
 
G

gunelle

Guest
I have come across both R117C (which I have) and R117H, which some people on this forum have, and when I see the R117 I am curious to learn more about them, to see if they are similar to me, but then I see the H instad of C. I have mild cf with sinus problems and I read that this is also the case with many R117H. They look the same, but are they similar or different?

Does anyone know?

Thanks
 
G

gunelle

Guest
I have come across both R117C (which I have) and R117H, which some people on this forum have, and when I see the R117 I am curious to learn more about them, to see if they are similar to me, but then I see the H instad of C. I have mild cf with sinus problems and I read that this is also the case with many R117H. They look the same, but are they similar or different?
<br />
<br />Does anyone know?
<br />
<br />Thanks
 
J

janddburke

New member
my daughter has R117H. she is pancreatic sufficient and has mild respiratory symptoms. we still see the docs every 3 months and ABX about 2-3 times a year.
as for what is to be expected? who the heck knows? today we are feeling well and baking cookies.
Life is good!
 
J

janddburke

New member
my daughter has R117H. she is pancreatic sufficient and has mild respiratory symptoms. we still see the docs every 3 months and ABX about 2-3 times a year.
as for what is to be expected? who the heck knows? today we are feeling well and baking cookies.
Life is good!
 
J

janddburke

New member
my daughter has R117H. she is pancreatic sufficient and has mild respiratory symptoms. we still see the docs every 3 months and ABX about 2-3 times a year.
<br />as for what is to be expected? who the heck knows? today we are feeling well and baking cookies.
<br />Life is good!
 
M

missT

Member
I wondered the same thing. I have the same two mutations as Debbie's child. I had very mild CF as a child. Now as a adult CF has taken a big toll and caught up with me big time. I guess the R117 mutation is mild and it seams that if you have another mild mutation then you are in luck! My other mutation is W1282X which is class 1 and aggressive. I guess it all depends on the mix of mutations...amongst other things. <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
M

missT

Member
I wondered the same thing. I have the same two mutations as Debbie's child. I had very mild CF as a child. Now as a adult CF has taken a big toll and caught up with me big time. I guess the R117 mutation is mild and it seams that if you have another mild mutation then you are in luck! My other mutation is W1282X which is class 1 and aggressive. I guess it all depends on the mix of mutations...amongst other things. <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
M

missT

Member
I wondered the same thing. I have the same two mutations as Debbie's child. I had very mild CF as a child. Now as a adult CF has taken a big toll and caught up with me big time. I guess the R117 mutation is mild and it seams that if you have another mild mutation then you are in luck! My other mutation is W1282X which is class 1 and aggressive. I guess it all depends on the mix of mutations...amongst other things. <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
K

Kristen

New member
I wondered the same thing when I "met" you on here, Gunhild. I had never heard of R117C. So far, my CF presentation is fairly mild: pancreatic sufficient, FEV1 at 110%, and, for the past few years, I've only needed antibiotics for sinus infections. Previously I got bronchitis about 3-4 times a year, and pneumonia occasionally, but hypertonic saline has pretty much eliminated those infections and I am healthier now, at 34, than I was in my early 20s.
 
K

Kristen

New member
I wondered the same thing when I "met" you on here, Gunhild. I had never heard of R117C. So far, my CF presentation is fairly mild: pancreatic sufficient, FEV1 at 110%, and, for the past few years, I've only needed antibiotics for sinus infections. Previously I got bronchitis about 3-4 times a year, and pneumonia occasionally, but hypertonic saline has pretty much eliminated those infections and I am healthier now, at 34, than I was in my early 20s.
 
K

Kristen

New member
I wondered the same thing when I "met" you on here, Gunhild. I had never heard of R117C. So far, my CF presentation is fairly mild: pancreatic sufficient, FEV1 at 110%, and, for the past few years, I've only needed antibiotics for sinus infections. Previously I got bronchitis about 3-4 times a year, and pneumonia occasionally, but hypertonic saline has pretty much eliminated those infections and I am healthier now, at 34, than I was in my early 20s.
 
G

gunelle

Guest
Hi, thanks for your replies.

I have googled R117C/R117H and find that they are mentioned together as if they were the same thing or very similar. I can't find anything about where they differ, I will keep on searching.

I have been on many antibiotics this past year, I don't have that much sinus problems at the moment; but more respitory. Before I have had more sinus problems. I am loving the hypertonic saline, because it helps me cough up a lot of junk( I currently have a cold, and I am coughing like an 80 year old man who smoked all his life). It really helps!
 
G

gunelle

Guest
Hi, thanks for your replies.

I have googled R117C/R117H and find that they are mentioned together as if they were the same thing or very similar. I can't find anything about where they differ, I will keep on searching.

I have been on many antibiotics this past year, I don't have that much sinus problems at the moment; but more respitory. Before I have had more sinus problems. I am loving the hypertonic saline, because it helps me cough up a lot of junk( I currently have a cold, and I am coughing like an 80 year old man who smoked all his life). It really helps!
 
G

gunelle

Guest
Hi, thanks for your replies.
<br />
<br />I have googled R117C/R117H and find that they are mentioned together as if they were the same thing or very similar. I can't find anything about where they differ, I will keep on searching.
<br />
<br />I have been on many antibiotics this past year, I don't have that much sinus problems at the moment; but more respitory. Before I have had more sinus problems. I am loving the hypertonic saline, because it helps me cough up a lot of junk( I currently have a cold, and I am coughing like an 80 year old man who smoked all his life). It really helps!
 
K

Keepercjr

Guest
Just remember than even though a CF gene may be seen as mild there are modifier genes that affect things as well. My brother and I had the same mutations -DF508 and M1101R. He was pancreatic insufficient, sick a lot and eventually died at age 13. I am pancreatic sufficient, 29 and doing very well. I didn't get my first CF infection till I was 16 and didn't culture PA till older than that (probably 20 or so) even though my brother always cultured it. He was 3.5 years younger than me so I was always around his bugs but never got them.

Sorry I know this wasn't about the genes you were asking about but thought I should put it out there. At a CF education day I went to many years ago they had a talk about modifier genes. Obviously my brother and I had a different mix of modifier genes.
 
K

Keepercjr

Guest
Just remember than even though a CF gene may be seen as mild there are modifier genes that affect things as well. My brother and I had the same mutations -DF508 and M1101R. He was pancreatic insufficient, sick a lot and eventually died at age 13. I am pancreatic sufficient, 29 and doing very well. I didn't get my first CF infection till I was 16 and didn't culture PA till older than that (probably 20 or so) even though my brother always cultured it. He was 3.5 years younger than me so I was always around his bugs but never got them.

Sorry I know this wasn't about the genes you were asking about but thought I should put it out there. At a CF education day I went to many years ago they had a talk about modifier genes. Obviously my brother and I had a different mix of modifier genes.
 
K

Keepercjr

Guest
Just remember than even though a CF gene may be seen as mild there are modifier genes that affect things as well. My brother and I had the same mutations -DF508 and M1101R. He was pancreatic insufficient, sick a lot and eventually died at age 13. I am pancreatic sufficient, 29 and doing very well. I didn't get my first CF infection till I was 16 and didn't culture PA till older than that (probably 20 or so) even though my brother always cultured it. He was 3.5 years younger than me so I was always around his bugs but never got them.
<br />
<br />Sorry I know this wasn't about the genes you were asking about but thought I should put it out there. At a CF education day I went to many years ago they had a talk about modifier genes. Obviously my brother and I had a different mix of modifier genes.
 
H

Havoc

New member
It's pretty difficult to draw a direct correlation between genotype and phenotype, unfortunately. I have DF508 and R560T, but have a very mild phenotypic expression. Apparently there a lot left to epigenetics and factors such as early preventative care.
 
H

Havoc

New member
It's pretty difficult to draw a direct correlation between genotype and phenotype, unfortunately. I have DF508 and R560T, but have a very mild phenotypic expression. Apparently there a lot left to epigenetics and factors such as early preventative care.
 
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