anybody have the gene R117H?

[dyza]

Jada, Amy is correct I have two RH117 (7T), the doc wont dx me with CF and I dont blame him as I have absolutely no symptoms at all. I have smoked since I was 17, I will be 40 this April. It is a class 4 mutation, the part in the bracket (7T), in my case will also make a difference, you can get a 5T, 7T or a 9T.
MY son has the same as your 2 boys, and yes, we were told almost exactly what you have been told. Not that we gave a big sigh of relief, we still treat Craig in a way that he has CF.
We are going to see a genetic councelor on the 30th March, I'm really not sure what they will tell us, but I will post, or rather blog about it, so please look out for it at the begining of April.

Look at Alyssa's blog her two children have the same genes also, she goes into good detail in her blog.

 

[dyza]

Jada, Amy is correct I have two RH117 (7T), the doc wont dx me with CF and I dont blame him as I have absolutely no symptoms at all. I have smoked since I was 17, I will be 40 this April. It is a class 4 mutation, the part in the bracket (7T), in my case will also make a difference, you can get a 5T, 7T or a 9T.
MY son has the same as your 2 boys, and yes, we were told almost exactly what you have been told. Not that we gave a big sigh of relief, we still treat Craig in a way that he has CF.
We are going to see a genetic councelor on the 30th March, I'm really not sure what they will tell us, but I will post, or rather blog about it, so please look out for it at the begining of April.

Look at Alyssa's blog her two children have the same genes also, she goes into good detail in her blog.

 

[NoExcuses]

Craig why are you seeing the genetic counselor?

I'm glad that you posted. I think your story is so interesting and really demonstrates how much CF can vary from person to person.

 

[NoExcuses]

Craig why are you seeing the genetic counselor?

I'm glad that you posted. I think your story is so interesting and really demonstrates how much CF can vary from person to person.

 

[NoExcuses]

Craig why are you seeing the genetic counselor?

I'm glad that you posted. I think your story is so interesting and really demonstrates how much CF can vary from person to person.

 

[NoExcuses]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>zoe4life</b></i>


They are now on the schedule for Wed. to have the sweat test,,</end quote></div>


Jada I was re-reading your post and I'm curious as to why the doc wants a sweat test?

 

[NoExcuses]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>zoe4life</b></i>


They are now on the schedule for Wed. to have the sweat test,,</end quote></div>


Jada I was re-reading your post and I'm curious as to why the doc wants a sweat test?

 

[NoExcuses]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>zoe4life</b></i>


They are now on the schedule for Wed. to have the sweat test,,</end quote></div>


Jada I was re-reading your post and I'm curious as to why the doc wants a sweat test?

 

[Alyssa]

Jada,

My kids have Delta F508 & R117H with T-7. Please read the first page of my blog for full details. It will give you a lot of info about them. If you want more details, please PM me, I'd be happy to share.

In a nutshell, yes the R117H is classified as one of the more "mild" genes. It is associated with pancreatic sufficiency and CBAVD (congenital bilateral absence of the vas deferens -- sperm is there, but no tubes to carry the sperm out)

Sakasuka -- you asked why they would want sweat tests on the boys - I think I can answer that ..... even though we all know the problems with sweat tests - docs will still want to get a sweat test even after genetic proof, just to get an idea of how much salt is being lost (it doesn't change the diagnosis or outcome, but just gives them more information about how the gene is effecting function) and because it is part of the general work up / to be thorough - been doing them for so long, they just cannot turn loose of the idea of not including it in the entire package.

Dyza - Craig, once again... thanks for pointing someone to my blog... you have a good memory. Do you mind if I ask a personal question? You may have posted this before, but I don't remember. Since I just stated above that R117H is associated with CBAVD..... am I to assume that is not the case with you? Perhaps when I was told that, they meant the combination of both genes was well known for causing CBAVD.

 

[Alyssa]

Jada,

My kids have Delta F508 & R117H with T-7. Please read the first page of my blog for full details. It will give you a lot of info about them. If you want more details, please PM me, I'd be happy to share.

In a nutshell, yes the R117H is classified as one of the more "mild" genes. It is associated with pancreatic sufficiency and CBAVD (congenital bilateral absence of the vas deferens -- sperm is there, but no tubes to carry the sperm out)

Sakasuka -- you asked why they would want sweat tests on the boys - I think I can answer that ..... even though we all know the problems with sweat tests - docs will still want to get a sweat test even after genetic proof, just to get an idea of how much salt is being lost (it doesn't change the diagnosis or outcome, but just gives them more information about how the gene is effecting function) and because it is part of the general work up / to be thorough - been doing them for so long, they just cannot turn loose of the idea of not including it in the entire package.

Dyza - Craig, once again... thanks for pointing someone to my blog... you have a good memory. Do you mind if I ask a personal question? You may have posted this before, but I don't remember. Since I just stated above that R117H is associated with CBAVD..... am I to assume that is not the case with you? Perhaps when I was told that, they meant the combination of both genes was well known for causing CBAVD.

 

[Alyssa]

Jada,

My kids have Delta F508 & R117H with T-7. Please read the first page of my blog for full details. It will give you a lot of info about them. If you want more details, please PM me, I'd be happy to share.

In a nutshell, yes the R117H is classified as one of the more "mild" genes. It is associated with pancreatic sufficiency and CBAVD (congenital bilateral absence of the vas deferens -- sperm is there, but no tubes to carry the sperm out)

Sakasuka -- you asked why they would want sweat tests on the boys - I think I can answer that ..... even though we all know the problems with sweat tests - docs will still want to get a sweat test even after genetic proof, just to get an idea of how much salt is being lost (it doesn't change the diagnosis or outcome, but just gives them more information about how the gene is effecting function) and because it is part of the general work up / to be thorough - been doing them for so long, they just cannot turn loose of the idea of not including it in the entire package.

Dyza - Craig, once again... thanks for pointing someone to my blog... you have a good memory. Do you mind if I ask a personal question? You may have posted this before, but I don't remember. Since I just stated above that R117H is associated with CBAVD..... am I to assume that is not the case with you? Perhaps when I was told that, they meant the combination of both genes was well known for causing CBAVD.

 

[Fruity]

I'm Delta F508 and R117h, 7T. I'm "mild" diagnosed at 14. My brother has the same mutations, he is asymptomatic at this time. Only has had 3 infections or so. All cleared. I'm so sorry for the shock. Hang in there. Sounds like your boys are healthy; and will likely stay that way. Be well, remember to keep breathing. Life is what it is, all you can do is live it. You're a great mom and your kids sound wonderful. Hang in there. We're all pulling for ya.

Ceci




(*laughs* My mom beat me by a minute posting. I'm alyssa's daughter for all who didn't know.)

 

[Fruity]

I'm Delta F508 and R117h, 7T. I'm "mild" diagnosed at 14. My brother has the same mutations, he is asymptomatic at this time. Only has had 3 infections or so. All cleared. I'm so sorry for the shock. Hang in there. Sounds like your boys are healthy; and will likely stay that way. Be well, remember to keep breathing. Life is what it is, all you can do is live it. You're a great mom and your kids sound wonderful. Hang in there. We're all pulling for ya.

Ceci




(*laughs* My mom beat me by a minute posting. I'm alyssa's daughter for all who didn't know.)

 

[Fruity]

I'm Delta F508 and R117h, 7T. I'm "mild" diagnosed at 14. My brother has the same mutations, he is asymptomatic at this time. Only has had 3 infections or so. All cleared. I'm so sorry for the shock. Hang in there. Sounds like your boys are healthy; and will likely stay that way. Be well, remember to keep breathing. Life is what it is, all you can do is live it. You're a great mom and your kids sound wonderful. Hang in there. We're all pulling for ya.

Ceci




(*laughs* My mom beat me by a minute posting. I'm alyssa's daughter for all who didn't know.)

 

[NoExcuses]

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

just to get an idea of how much salt is being lost (it doesn't change the diagnosis or outcome, but just gives them more information about how the gene is effecting function) and because it is part of the general work up / to be thorough - been doing them for so long, they just cannot turn loose of the idea of not including it in the entire package.

</end quote></div>


with all due respect, that makes no sense. what does learning how much salt is in your sweat do? it doesn't change medication, it doesn't change prognisis, it doesn't change genotype.

all it is is an extra thing Jada & Scott have to do to their kids and probably another co-pay they have to pay for the test. Jada & Scott are going through enough - they don't need to be scammed into a meaningless test.

 

[NoExcuses]

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

just to get an idea of how much salt is being lost (it doesn't change the diagnosis or outcome, but just gives them more information about how the gene is effecting function) and because it is part of the general work up / to be thorough - been doing them for so long, they just cannot turn loose of the idea of not including it in the entire package.

</end quote></div>


with all due respect, that makes no sense. what does learning how much salt is in your sweat do? it doesn't change medication, it doesn't change prognisis, it doesn't change genotype.

all it is is an extra thing Jada & Scott have to do to their kids and probably another co-pay they have to pay for the test. Jada & Scott are going through enough - they don't need to be scammed into a meaningless test.

 

[NoExcuses]

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

just to get an idea of how much salt is being lost (it doesn't change the diagnosis or outcome, but just gives them more information about how the gene is effecting function) and because it is part of the general work up / to be thorough - been doing them for so long, they just cannot turn loose of the idea of not including it in the entire package.

</end quote></div>


with all due respect, that makes no sense. what does learning how much salt is in your sweat do? it doesn't change medication, it doesn't change prognisis, it doesn't change genotype.

all it is is an extra thing Jada & Scott have to do to their kids and probably another co-pay they have to pay for the test. Jada & Scott are going through enough - they don't need to be scammed into a meaningless test.

 

[dyza]

sorry for the hi-jack Jada, but I suppose its all relevent to you.
Alyssa I dont mind saying, no my kids are em.. naturally conceived I understand why you ask lol. The doctor I see in Glasgow could only find 2 others with the double rh117 and one of them was from a fertility clinic in Edinburgh, the person was having difficulty in conceiving and that was how they found his genes. There is a bit off a gap between our kids, 12 years, and it has been in the back off my mind as to why that was, as to wether it did affect me down below, but I dont think this was the reason for us.

Amy
The genetic people, I'm really not sure what they can tell me, I have a fairly good understanding of things, so there may be the possibility of me getting up and walking out, but I will try not too. My doctor told me that they approach the subject from purely a genetic angle as apposed to a subjective medical angle, other than that I am pretty much in the dark as to what will be said.

Craig


Alyssa, you were the first person to respond to my first post here, so how could I possible forget your own circumstances

 

[dyza]

sorry for the hi-jack Jada, but I suppose its all relevent to you.
Alyssa I dont mind saying, no my kids are em.. naturally conceived I understand why you ask lol. The doctor I see in Glasgow could only find 2 others with the double rh117 and one of them was from a fertility clinic in Edinburgh, the person was having difficulty in conceiving and that was how they found his genes. There is a bit off a gap between our kids, 12 years, and it has been in the back off my mind as to why that was, as to wether it did affect me down below, but I dont think this was the reason for us.

Amy
The genetic people, I'm really not sure what they can tell me, I have a fairly good understanding of things, so there may be the possibility of me getting up and walking out, but I will try not too. My doctor told me that they approach the subject from purely a genetic angle as apposed to a subjective medical angle, other than that I am pretty much in the dark as to what will be said.

Craig


Alyssa, you were the first person to respond to my first post here, so how could I possible forget your own circumstances

 

[dyza]

sorry for the hi-jack Jada, but I suppose its all relevent to you.
Alyssa I dont mind saying, no my kids are em.. naturally conceived I understand why you ask lol. The doctor I see in Glasgow could only find 2 others with the double rh117 and one of them was from a fertility clinic in Edinburgh, the person was having difficulty in conceiving and that was how they found his genes. There is a bit off a gap between our kids, 12 years, and it has been in the back off my mind as to why that was, as to wether it did affect me down below, but I dont think this was the reason for us.

Amy
The genetic people, I'm really not sure what they can tell me, I have a fairly good understanding of things, so there may be the possibility of me getting up and walking out, but I will try not too. My doctor told me that they approach the subject from purely a genetic angle as apposed to a subjective medical angle, other than that I am pretty much in the dark as to what will be said.

Craig


Alyssa, you were the first person to respond to my first post here, so how could I possible forget your own circumstances