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

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Gramma58

Guest
Does anyone know about this combination of gene mutations? My grandson was diagnosed due to newborn screening. He has R117H (no 5T, 7T, or any of that)from his father and both S1235R AND R785X (far as we know, she does NOT herself have CF). He is pancreatic sufficient, 24 sweat test, and has had absolutely no symptoms, he's really never been sick at all. Nothing so far would have in a million years caused anyone to look for CF or any other illness. His pediatrician finds him very healthy. He eats well, sleeps well, has a great disposition. He is above the 50% for size,height, weight, just a very good size, a little fat, really, with the "rubber band" look around his ankles, knees, arms, etc. His CF specialist feels he may never have any symptoms, at least that was the opinion at the very first visit. He is not yet quite 6 months old, and is due for another checkup at 6 months.
 
G

Gramma58

Guest
Does anyone know about this combination of gene mutations? My grandson was diagnosed due to newborn screening. He has R117H (no 5T, 7T, or any of that)from his father and both S1235R AND R785X (far as we know, she does NOT herself have CF). He is pancreatic sufficient, 24 sweat test, and has had absolutely no symptoms, he's really never been sick at all. Nothing so far would have in a million years caused anyone to look for CF or any other illness. His pediatrician finds him very healthy. He eats well, sleeps well, has a great disposition. He is above the 50% for size,height, weight, just a very good size, a little fat, really, with the "rubber band" look around his ankles, knees, arms, etc. His CF specialist feels he may never have any symptoms, at least that was the opinion at the very first visit. He is not yet quite 6 months old, and is due for another checkup at 6 months.
 
G

Gramma58

Guest
Does anyone know about this combination of gene mutations? My grandson was diagnosed due to newborn screening. He has R117H (no 5T, 7T, or any of that)from his father and both S1235R AND R785X (far as we know, she does NOT herself have CF). He is pancreatic sufficient, 24 sweat test, and has had absolutely no symptoms, he's really never been sick at all. Nothing so far would have in a million years caused anyone to look for CF or any other illness. His pediatrician finds him very healthy. He eats well, sleeps well, has a great disposition. He is above the 50% for size,height, weight, just a very good size, a little fat, really, with the "rubber band" look around his ankles, knees, arms, etc. His CF specialist feels he may never have any symptoms, at least that was the opinion at the very first visit. He is not yet quite 6 months old, and is due for another checkup at 6 months.
 
G

Gramma58

Guest
Does anyone know about this combination of gene mutations? My grandson was diagnosed due to newborn screening. He has R117H (no 5T, 7T, or any of that)from his father and both S1235R AND R785X (far as we know, she does NOT herself have CF). He is pancreatic sufficient, 24 sweat test, and has had absolutely no symptoms, he's really never been sick at all. Nothing so far would have in a million years caused anyone to look for CF or any other illness. His pediatrician finds him very healthy. He eats well, sleeps well, has a great disposition. He is above the 50% for size,height, weight, just a very good size, a little fat, really, with the "rubber band" look around his ankles, knees, arms, etc. His CF specialist feels he may never have any symptoms, at least that was the opinion at the very first visit. He is not yet quite 6 months old, and is due for another checkup at 6 months.
 
G

Gramma58

Guest
Does anyone know about this combination of gene mutations? My grandson was diagnosed due to newborn screening. He has R117H (no 5T, 7T, or any of that)from his father and both S1235R AND R785X (far as we know, she does NOT herself have CF). He is pancreatic sufficient, 24 sweat test, and has had absolutely no symptoms, he's really never been sick at all. Nothing so far would have in a million years caused anyone to look for CF or any other illness. His pediatrician finds him very healthy. He eats well, sleeps well, has a great disposition. He is above the 50% for size,height, weight, just a very good size, a little fat, really, with the "rubber band" look around his ankles, knees, arms, etc. His CF specialist feels he may never have any symptoms, at least that was the opinion at the very first visit. He is not yet quite 6 months old, and is due for another checkup at 6 months.
 
M

missT

Member
I have R117H. That was from my dad. He was 100% Irish. I am pancreatic sufficient and looked very normal as a child. That is a class 4 or 5 mutation which means its good. I am not sure about the other mutations you listed. My other mutation is a class 1 (which is not good)...but I am almost 40! I was not dianosed until 14. Stay on top of the docs and find out as much as you can about the other mutation. You get one mutation from each parent...so he has two.
 
M

missT

Member
I have R117H. That was from my dad. He was 100% Irish. I am pancreatic sufficient and looked very normal as a child. That is a class 4 or 5 mutation which means its good. I am not sure about the other mutations you listed. My other mutation is a class 1 (which is not good)...but I am almost 40! I was not dianosed until 14. Stay on top of the docs and find out as much as you can about the other mutation. You get one mutation from each parent...so he has two.
 
M

missT

Member
I have R117H. That was from my dad. He was 100% Irish. I am pancreatic sufficient and looked very normal as a child. That is a class 4 or 5 mutation which means its good. I am not sure about the other mutations you listed. My other mutation is a class 1 (which is not good)...but I am almost 40! I was not dianosed until 14. Stay on top of the docs and find out as much as you can about the other mutation. You get one mutation from each parent...so he has two.
 
M

missT

Member
I have R117H. That was from my dad. He was 100% Irish. I am pancreatic sufficient and looked very normal as a child. That is a class 4 or 5 mutation which means its good. I am not sure about the other mutations you listed. My other mutation is a class 1 (which is not good)...but I am almost 40! I was not dianosed until 14. Stay on top of the docs and find out as much as you can about the other mutation. You get one mutation from each parent...so he has two.
 
M

missT

Member
I have R117H. That was from my dad. He was 100% Irish. I am pancreatic sufficient and looked very normal as a child. That is a class 4 or 5 mutation which means its good. I am not sure about the other mutations you listed. My other mutation is a class 1 (which is not good)...but I am almost 40! I was not dianosed until 14. Stay on top of the docs and find out as much as you can about the other mutation. You get one mutation from each parent...so he has two.
 
J

janddburke

New member
ditto for my Jess. she is 14 and is Pancreatic Sufficient and has had only mild symptoms so far.

but make no mistakes, if your grandson has 2 mutations, then he does have CF and you need to be mindful of what that means now and in the (hopfully very distant) future.
please talk with the docs and listen to what they have to say (and not what you want to hear)

keep him as healthy as you can for as long as you can so medical science can catch up!

AND give him lots and lots of hugs and kisses.
 
J

janddburke

New member
ditto for my Jess. she is 14 and is Pancreatic Sufficient and has had only mild symptoms so far.

but make no mistakes, if your grandson has 2 mutations, then he does have CF and you need to be mindful of what that means now and in the (hopfully very distant) future.
please talk with the docs and listen to what they have to say (and not what you want to hear)

keep him as healthy as you can for as long as you can so medical science can catch up!

AND give him lots and lots of hugs and kisses.
 
J

janddburke

New member
ditto for my Jess. she is 14 and is Pancreatic Sufficient and has had only mild symptoms so far.

but make no mistakes, if your grandson has 2 mutations, then he does have CF and you need to be mindful of what that means now and in the (hopfully very distant) future.
please talk with the docs and listen to what they have to say (and not what you want to hear)

keep him as healthy as you can for as long as you can so medical science can catch up!

AND give him lots and lots of hugs and kisses.
 
J

janddburke

New member
ditto for my Jess. she is 14 and is Pancreatic Sufficient and has had only mild symptoms so far.

but make no mistakes, if your grandson has 2 mutations, then he does have CF and you need to be mindful of what that means now and in the (hopfully very distant) future.
please talk with the docs and listen to what they have to say (and not what you want to hear)

keep him as healthy as you can for as long as you can so medical science can catch up!

AND give him lots and lots of hugs and kisses.
 
J

janddburke

New member
ditto for my Jess. she is 14 and is Pancreatic Sufficient and has had only mild symptoms so far.
<br />
<br />but make no mistakes, if your grandson has 2 mutations, then he does have CF and you need to be mindful of what that means now and in the (hopfully very distant) future.
<br />please talk with the docs and listen to what they have to say (and not what you want to hear)
<br />
<br />keep him as healthy as you can for as long as you can so medical science can catch up!
<br />
<br />AND give him lots and lots of hugs and kisses.
 
G

Gramma58

Guest
Y'all, thanks for answering. I still have so many questions--I have read a bit about R117H, and I understand that it is more mild. But I have read very very little about S1235R and almost nothing about R785X. I really wish I had more info on those. And truly, he does have 3 mutations--2 from his mother, who does not have cf (never tested, but at 33, we have no reason to think she has it), and of course, 1 from his father. And does having 3 mutations make your cf different from someone with only 2 (like most cf people)?
 
G

Gramma58

Guest
Y'all, thanks for answering. I still have so many questions--I have read a bit about R117H, and I understand that it is more mild. But I have read very very little about S1235R and almost nothing about R785X. I really wish I had more info on those. And truly, he does have 3 mutations--2 from his mother, who does not have cf (never tested, but at 33, we have no reason to think she has it), and of course, 1 from his father. And does having 3 mutations make your cf different from someone with only 2 (like most cf people)?
 
G

Gramma58

Guest
Y'all, thanks for answering. I still have so many questions--I have read a bit about R117H, and I understand that it is more mild. But I have read very very little about S1235R and almost nothing about R785X. I really wish I had more info on those. And truly, he does have 3 mutations--2 from his mother, who does not have cf (never tested, but at 33, we have no reason to think she has it), and of course, 1 from his father. And does having 3 mutations make your cf different from someone with only 2 (like most cf people)?
 
G

Gramma58

Guest
Y'all, thanks for answering. I still have so many questions--I have read a bit about R117H, and I understand that it is more mild. But I have read very very little about S1235R and almost nothing about R785X. I really wish I had more info on those. And truly, he does have 3 mutations--2 from his mother, who does not have cf (never tested, but at 33, we have no reason to think she has it), and of course, 1 from his father. And does having 3 mutations make your cf different from someone with only 2 (like most cf people)?
 
G

Gramma58

Guest
Y'all, thanks for answering. I still have so many questions--I have read a bit about R117H, and I understand that it is more mild. But I have read very very little about S1235R and almost nothing about R785X. I really wish I had more info on those. And truly, he does have 3 mutations--2 from his mother, who does not have cf (never tested, but at 33, we have no reason to think she has it), and of course, 1 from his father. And does having 3 mutations make your cf different from someone with only 2 (like most cf people)?
 
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