R117H question

HappyHearts · Dec 26, 2009

Hi,
I've searched R117H here and I'm not sure if what I am reading matches up to what I am working with.

We found out when I was 20weeks pregnant that I was a Delta F508 carrier. We then had my husband tested and his paperwork was returned as a R117H carrier with "7T/7T". The paperwork goes on to explain that 5T is not good but maybe 7T is ok? I'm a little confused. Everything I read says something about 7H/7T but my paperwork simply says 7T/7T.

DD has passed both sweat chloride tests and I intend to have a DNA analysis done when she's older just to confirm and to know which mutation she carries.

At the time my husband and I had decided to not have any more children and it's a decision I am really having a hard time with. Especially when trying to interpret all this paperwork and online info I am finding. And in researching and not having the info match up I'm just confused.

Any clarification appreciated. Thanks in advance! <img src="i/expressions/face-icon-small-smile.gif" border="0">

ETA: I see a lot of combinations where people have DF508 and R117H but they seem to have 5T or 9T and I wasn't sure if the outcome was any better for a 7T. I found this chart that made things even more confusing for me:

Positive for Classic CF mutation, Positive for R117H 7T Females - Asymptomatic, Males - Variant CF to CBAVD

(on page 2 <a target=_blank class=ftalternatingbarlinklarge href="http://genetics.emory.edu/pdf/Emory_Human_Genetics_Cystic_Fibrosis_PolyT_TG_Tracts.pdf">here</a>

HappyHearts · Dec 26, 2009

Hi,
I've searched R117H here and I'm not sure if what I am reading matches up to what I am working with.

We found out when I was 20weeks pregnant that I was a Delta F508 carrier. We then had my husband tested and his paperwork was returned as a R117H carrier with "7T/7T". The paperwork goes on to explain that 5T is not good but maybe 7T is ok? I'm a little confused. Everything I read says something about 7H/7T but my paperwork simply says 7T/7T.

DD has passed both sweat chloride tests and I intend to have a DNA analysis done when she's older just to confirm and to know which mutation she carries.

At the time my husband and I had decided to not have any more children and it's a decision I am really having a hard time with. Especially when trying to interpret all this paperwork and online info I am finding. And in researching and not having the info match up I'm just confused.

Any clarification appreciated. Thanks in advance! <img src="i/expressions/face-icon-small-smile.gif" border="0">

ETA: I see a lot of combinations where people have DF508 and R117H but they seem to have 5T or 9T and I wasn't sure if the outcome was any better for a 7T. I found this chart that made things even more confusing for me:

Positive for Classic CF mutation, Positive for R117H 7T Females - Asymptomatic, Males - Variant CF to CBAVD

(on page 2 <a target=_blank class=ftalternatingbarlinklarge href="http://genetics.emory.edu/pdf/Emory_Human_Genetics_Cystic_Fibrosis_PolyT_TG_Tracts.pdf">here</a>

HappyHearts · Dec 26, 2009

Hi,
I've searched R117H here and I'm not sure if what I am reading matches up to what I am working with.

We found out when I was 20weeks pregnant that I was a Delta F508 carrier. We then had my husband tested and his paperwork was returned as a R117H carrier with "7T/7T". The paperwork goes on to explain that 5T is not good but maybe 7T is ok? I'm a little confused. Everything I read says something about 7H/7T but my paperwork simply says 7T/7T.

DD has passed both sweat chloride tests and I intend to have a DNA analysis done when she's older just to confirm and to know which mutation she carries.

At the time my husband and I had decided to not have any more children and it's a decision I am really having a hard time with. Especially when trying to interpret all this paperwork and online info I am finding. And in researching and not having the info match up I'm just confused.

Any clarification appreciated. Thanks in advance! <img src="i/expressions/face-icon-small-smile.gif" border="0">

ETA: I see a lot of combinations where people have DF508 and R117H but they seem to have 5T or 9T and I wasn't sure if the outcome was any better for a 7T. I found this chart that made things even more confusing for me:

Positive for Classic CF mutation, Positive for R117H 7T Females - Asymptomatic, Males - Variant CF to CBAVD

(on page 2 <a target=_blank class=ftalternatingbarlinklarge href="http://genetics.emory.edu/pdf/Emory_Human_Genetics_Cystic_Fibrosis_PolyT_TG_Tracts.pdf">here</a>

HappyHearts · Dec 26, 2009

Hi,
I've searched R117H here and I'm not sure if what I am reading matches up to what I am working with.

We found out when I was 20weeks pregnant that I was a Delta F508 carrier. We then had my husband tested and his paperwork was returned as a R117H carrier with "7T/7T". The paperwork goes on to explain that 5T is not good but maybe 7T is ok? I'm a little confused. Everything I read says something about 7H/7T but my paperwork simply says 7T/7T.

DD has passed both sweat chloride tests and I intend to have a DNA analysis done when she's older just to confirm and to know which mutation she carries.

At the time my husband and I had decided to not have any more children and it's a decision I am really having a hard time with. Especially when trying to interpret all this paperwork and online info I am finding. And in researching and not having the info match up I'm just confused.

Any clarification appreciated. Thanks in advance! <img src="i/expressions/face-icon-small-smile.gif" border="0">

ETA: I see a lot of combinations where people have DF508 and R117H but they seem to have 5T or 9T and I wasn't sure if the outcome was any better for a 7T. I found this chart that made things even more confusing for me:

Positive for Classic CF mutation, Positive for R117H 7T Females - Asymptomatic, Males - Variant CF to CBAVD

(on page 2 <a target=_blank class=ftalternatingbarlinklarge href="http://genetics.emory.edu/pdf/Emory_Human_Genetics_Cystic_Fibrosis_PolyT_TG_Tracts.pdf">here</a>

HappyHearts · Dec 26, 2009

Hi,
 I've searched R117H here and I'm not sure if what I am reading matches up to what I am working with.
 
 We found out when I was 20weeks pregnant that I was a Delta F508 carrier. We then had my husband tested and his paperwork was returned as a R117H carrier with "7T/7T". The paperwork goes on to explain that 5T is not good but maybe 7T is ok? I'm a little confused. Everything I read says something about 7H/7T but my paperwork simply says 7T/7T.
 
 DD has passed both sweat chloride tests and I intend to have a DNA analysis done when she's older just to confirm and to know which mutation she carries.
 
 At the time my husband and I had decided to not have any more children and it's a decision I am really having a hard time with. Especially when trying to interpret all this paperwork and online info I am finding. And in researching and not having the info match up I'm just confused.
 
 Any clarification appreciated. Thanks in advance! <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
 ETA: I see a lot of combinations where people have DF508 and R117H but they seem to have 5T or 9T and I wasn't sure if the outcome was any better for a 7T. I found this chart that made things even more confusing for me:
 
 Positive for Classic CF mutation, Positive for R117H 7T Females - Asymptomatic, Males - Variant CF to CBAVD
 
 (on page 2 <a target=_blank class=ftalternatingbarlinklarge href="http://genetics.emory.edu/pdf/Emory_Human_Genetics_Cystic_Fibrosis_PolyT_TG_Tracts.pdf">here</a>

dmatherne · Dec 28, 2009

Hi, My name is Kelsey. I have a 8 month old son with these same mutations. His paperwork came back with the 7T/9T variant. The chart is confusing for us too. All the doctors seem to tell us are that he will probably have a mild case or he may not have any symptoms. That is so frustating to hear!! How old is your child? Have you had her tested and has she been diagnosed?

I was not tested while I was pregnant and we found out when our son was two weeks old throug the newborn screening. I am wondering who to go to to find out which one of us has which gene....

My son has the mutations and has not been diagnosed at this time. They are going to wait and see if he starts showing classic CF signs. We are doing a few preventative things, going to the clinic every 6 months and of course, keeping our fingers crossed that everything is going to be ok.

I saw in your post that you said you have decided to not have any more children. I am too struggling with this! I know I want one more child, but I just can't decide what to do. Do we take the chance, do invetro, or not have anymore. My family and others don't seem to understand and keep telling me they would just take a chance. Anyway, I totally understand how you feel<img src="i/expressions/face-icon-small-smile.gif" border="0">

My husband has posted on here before and we had a few responses regarding these mutations. Do a search under forum/cf/newly diagnosed.

Hope we can help each other through all of this<img src="i/expressions/face-icon-small-smile.gif" border="0">

Kelsey

dmatherne · Dec 28, 2009

Hi, My name is Kelsey. I have a 8 month old son with these same mutations. His paperwork came back with the 7T/9T variant. The chart is confusing for us too. All the doctors seem to tell us are that he will probably have a mild case or he may not have any symptoms. That is so frustating to hear!! How old is your child? Have you had her tested and has she been diagnosed?

I was not tested while I was pregnant and we found out when our son was two weeks old throug the newborn screening. I am wondering who to go to to find out which one of us has which gene....

My son has the mutations and has not been diagnosed at this time. They are going to wait and see if he starts showing classic CF signs. We are doing a few preventative things, going to the clinic every 6 months and of course, keeping our fingers crossed that everything is going to be ok.

I saw in your post that you said you have decided to not have any more children. I am too struggling with this! I know I want one more child, but I just can't decide what to do. Do we take the chance, do invetro, or not have anymore. My family and others don't seem to understand and keep telling me they would just take a chance. Anyway, I totally understand how you feel<img src="i/expressions/face-icon-small-smile.gif" border="0">

My husband has posted on here before and we had a few responses regarding these mutations. Do a search under forum/cf/newly diagnosed.

Hope we can help each other through all of this<img src="i/expressions/face-icon-small-smile.gif" border="0">

Kelsey

dmatherne · Dec 28, 2009

Hi, My name is Kelsey. I have a 8 month old son with these same mutations. His paperwork came back with the 7T/9T variant. The chart is confusing for us too. All the doctors seem to tell us are that he will probably have a mild case or he may not have any symptoms. That is so frustating to hear!! How old is your child? Have you had her tested and has she been diagnosed?

I was not tested while I was pregnant and we found out when our son was two weeks old throug the newborn screening. I am wondering who to go to to find out which one of us has which gene....

My son has the mutations and has not been diagnosed at this time. They are going to wait and see if he starts showing classic CF signs. We are doing a few preventative things, going to the clinic every 6 months and of course, keeping our fingers crossed that everything is going to be ok.

I saw in your post that you said you have decided to not have any more children. I am too struggling with this! I know I want one more child, but I just can't decide what to do. Do we take the chance, do invetro, or not have anymore. My family and others don't seem to understand and keep telling me they would just take a chance. Anyway, I totally understand how you feel<img src="i/expressions/face-icon-small-smile.gif" border="0">

My husband has posted on here before and we had a few responses regarding these mutations. Do a search under forum/cf/newly diagnosed.

Hope we can help each other through all of this<img src="i/expressions/face-icon-small-smile.gif" border="0">

Kelsey

dmatherne · Dec 28, 2009

Hi, My name is Kelsey. I have a 8 month old son with these same mutations. His paperwork came back with the 7T/9T variant. The chart is confusing for us too. All the doctors seem to tell us are that he will probably have a mild case or he may not have any symptoms. That is so frustating to hear!! How old is your child? Have you had her tested and has she been diagnosed?

I was not tested while I was pregnant and we found out when our son was two weeks old throug the newborn screening. I am wondering who to go to to find out which one of us has which gene....

My son has the mutations and has not been diagnosed at this time. They are going to wait and see if he starts showing classic CF signs. We are doing a few preventative things, going to the clinic every 6 months and of course, keeping our fingers crossed that everything is going to be ok.

I saw in your post that you said you have decided to not have any more children. I am too struggling with this! I know I want one more child, but I just can't decide what to do. Do we take the chance, do invetro, or not have anymore. My family and others don't seem to understand and keep telling me they would just take a chance. Anyway, I totally understand how you feel<img src="i/expressions/face-icon-small-smile.gif" border="0">

My husband has posted on here before and we had a few responses regarding these mutations. Do a search under forum/cf/newly diagnosed.

Hope we can help each other through all of this<img src="i/expressions/face-icon-small-smile.gif" border="0">

Kelsey

dmatherne · Dec 28, 2009

Hi, My name is Kelsey. I have a 8 month old son with these same mutations. His paperwork came back with the 7T/9T variant. The chart is confusing for us too. All the doctors seem to tell us are that he will probably have a mild case or he may not have any symptoms. That is so frustating to hear!! How old is your child? Have you had her tested and has she been diagnosed?
 
 I was not tested while I was pregnant and we found out when our son was two weeks old throug the newborn screening. I am wondering who to go to to find out which one of us has which gene....
 
 My son has the mutations and has not been diagnosed at this time. They are going to wait and see if he starts showing classic CF signs. We are doing a few preventative things, going to the clinic every 6 months and of course, keeping our fingers crossed that everything is going to be ok.
 
 I saw in your post that you said you have decided to not have any more children. I am too struggling with this! I know I want one more child, but I just can't decide what to do. Do we take the chance, do invetro, or not have anymore. My family and others don't seem to understand and keep telling me they would just take a chance. Anyway, I totally understand how you feel<img src="i/expressions/face-icon-small-smile.gif" border="0">
 
 My husband has posted on here before and we had a few responses regarding these mutations. Do a search under forum/cf/newly diagnosed.
 
 Hope we can help each other through all of this<img src="i/expressions/face-icon-small-smile.gif" border="0">
 
 Kelsey

HappyHearts · Dec 28, 2009

Hi Kelsey,
Thanks for your response! Katelyn is 17 months old. She has had two sweat tests but has not had her DNA analyzed for her exact mutation(s). The pedi said two negative sweat tests was answer enough, but after reading here I really think I want to have her bloodwork done now. Had I not found out I was a carrier when pregnant, we did receive a letter from the newborn screening. I opted not to do the amnio at the time since I was so far along and didn't want to risk stillbirth/ super micro preemie.

I totally feel the same as you - do we chance it, do IVF w/PGD (which I have concerns about too besides the $$ factor), or just be happy with our one healthy (we think) child? It didn't bother me for the first year or so but baby fever is setting in and I feel like this decision is crushing me every.day. That's what brought me to this forum. Trying to understand my paperwork a little more b/c it elaborates about 5T vs 7T in the test results but I surely don't comprehend it! My mom totally thinks we should chance it so I know what it's like to have others tell you to go for it!

From what I read for boys, this combination could mean problems with the vas deferens. Is there any way to tell at his age if your son is ok as far as that goes? I certainly hope he remains symptom free forever. <img src="i/expressions/face-icon-small-smile.gif" border="0"> I've read so many "good" outcomes with these mutations so far so hang in there!

Thanks again! <img src="i/expressions/face-icon-small-smile.gif" border="0">

HappyHearts · Dec 28, 2009

Hi Kelsey,
Thanks for your response! Katelyn is 17 months old. She has had two sweat tests but has not had her DNA analyzed for her exact mutation(s). The pedi said two negative sweat tests was answer enough, but after reading here I really think I want to have her bloodwork done now. Had I not found out I was a carrier when pregnant, we did receive a letter from the newborn screening. I opted not to do the amnio at the time since I was so far along and didn't want to risk stillbirth/ super micro preemie.

I totally feel the same as you - do we chance it, do IVF w/PGD (which I have concerns about too besides the $$ factor), or just be happy with our one healthy (we think) child? It didn't bother me for the first year or so but baby fever is setting in and I feel like this decision is crushing me every.day. That's what brought me to this forum. Trying to understand my paperwork a little more b/c it elaborates about 5T vs 7T in the test results but I surely don't comprehend it! My mom totally thinks we should chance it so I know what it's like to have others tell you to go for it!

From what I read for boys, this combination could mean problems with the vas deferens. Is there any way to tell at his age if your son is ok as far as that goes? I certainly hope he remains symptom free forever. <img src="i/expressions/face-icon-small-smile.gif" border="0"> I've read so many "good" outcomes with these mutations so far so hang in there!

Thanks again! <img src="i/expressions/face-icon-small-smile.gif" border="0">

HappyHearts · Dec 28, 2009

Hi Kelsey,
Thanks for your response! Katelyn is 17 months old. She has had two sweat tests but has not had her DNA analyzed for her exact mutation(s). The pedi said two negative sweat tests was answer enough, but after reading here I really think I want to have her bloodwork done now. Had I not found out I was a carrier when pregnant, we did receive a letter from the newborn screening. I opted not to do the amnio at the time since I was so far along and didn't want to risk stillbirth/ super micro preemie.

I totally feel the same as you - do we chance it, do IVF w/PGD (which I have concerns about too besides the $$ factor), or just be happy with our one healthy (we think) child? It didn't bother me for the first year or so but baby fever is setting in and I feel like this decision is crushing me every.day. That's what brought me to this forum. Trying to understand my paperwork a little more b/c it elaborates about 5T vs 7T in the test results but I surely don't comprehend it! My mom totally thinks we should chance it so I know what it's like to have others tell you to go for it!

From what I read for boys, this combination could mean problems with the vas deferens. Is there any way to tell at his age if your son is ok as far as that goes? I certainly hope he remains symptom free forever. <img src="i/expressions/face-icon-small-smile.gif" border="0"> I've read so many "good" outcomes with these mutations so far so hang in there!

Thanks again! <img src="i/expressions/face-icon-small-smile.gif" border="0">

HappyHearts · Dec 28, 2009

Hi Kelsey,
Thanks for your response! Katelyn is 17 months old. She has had two sweat tests but has not had her DNA analyzed for her exact mutation(s). The pedi said two negative sweat tests was answer enough, but after reading here I really think I want to have her bloodwork done now. Had I not found out I was a carrier when pregnant, we did receive a letter from the newborn screening. I opted not to do the amnio at the time since I was so far along and didn't want to risk stillbirth/ super micro preemie.

I totally feel the same as you - do we chance it, do IVF w/PGD (which I have concerns about too besides the $$ factor), or just be happy with our one healthy (we think) child? It didn't bother me for the first year or so but baby fever is setting in and I feel like this decision is crushing me every.day. That's what brought me to this forum. Trying to understand my paperwork a little more b/c it elaborates about 5T vs 7T in the test results but I surely don't comprehend it! My mom totally thinks we should chance it so I know what it's like to have others tell you to go for it!

From what I read for boys, this combination could mean problems with the vas deferens. Is there any way to tell at his age if your son is ok as far as that goes? I certainly hope he remains symptom free forever. <img src="i/expressions/face-icon-small-smile.gif" border="0"> I've read so many "good" outcomes with these mutations so far so hang in there!

Thanks again! <img src="i/expressions/face-icon-small-smile.gif" border="0">

HappyHearts · Dec 28, 2009

Hi Kelsey,
 Thanks for your response! Katelyn is 17 months old. She has had two sweat tests but has not had her DNA analyzed for her exact mutation(s). The pedi said two negative sweat tests was answer enough, but after reading here I really think I want to have her bloodwork done now. Had I not found out I was a carrier when pregnant, we did receive a letter from the newborn screening. I opted not to do the amnio at the time since I was so far along and didn't want to risk stillbirth/ super micro preemie.
 
 I totally feel the same as you - do we chance it, do IVF w/PGD (which I have concerns about too besides the $$ factor), or just be happy with our one healthy (we think) child? It didn't bother me for the first year or so but baby fever is setting in and I feel like this decision is crushing me every.day. That's what brought me to this forum. Trying to understand my paperwork a little more b/c it elaborates about 5T vs 7T in the test results but I surely don't comprehend it! My mom totally thinks we should chance it so I know what it's like to have others tell you to go for it!
 
 From what I read for boys, this combination could mean problems with the vas deferens. Is there any way to tell at his age if your son is ok as far as that goes? I certainly hope he remains symptom free forever. <img src="i/expressions/face-icon-small-smile.gif" border="0"> I've read so many "good" outcomes with these mutations so far so hang in there!
 
 Thanks again! <img src="i/expressions/face-icon-small-smile.gif" border="0">

hmw · Dec 28, 2009

Janelle,
Since you know what mutations you and your husband carry, having your child tested would actually be pretty simple, compared to what most people have to go through in getting their kids tested. Ambry (the company that offers the most comprehensive CF testing) can do a test looking for JUST those two mutations, greatly reducing the cost and time it would take to get results back. It would give you a conclusive answer one way or the other. Since I wasn't sure if you knew this test was available (most of our kids need the test looking for 1,500+ mutations) I wanted to be sure to mention it.

Re. the vas deferens problem you came across~

Any male with CF- something like 95%, regardless of mutation, has a very high chance of having problems with the vas deferens (CBAVD: congenital bilateral absence of vas deferens.) However, some specific mutations result in almost no symptoms except for this and they sometimes aren't dx'ed until later in life, when they find they are unable to father children.

This can be determined in young children, but it can be very difficult. Sometimes it can be 'felt' on external exam whether or not the vas deferens is present, but there are also nerves and blood vessels there in the same area, so it's a subjective exam and can greatly depend on the expertise of the dr. Some will also attempt to dx by ultrasound of the area, but other drs will not do this prior to puberty. My son's dx is up in the air right now and CBAVD is likely going to be one of the ways we determine whether or not he has CF- so far external exam has been 'inconclusive' and his drs have not felt an u/s would be accurate and won't do it. A sperm count is often done to determine this and he's not old enough for that yet.

I wish you the very best for your dd and hope she remains healthy <img src="i/expressions/face-icon-small-smile.gif" border="0">

hmw · Dec 28, 2009

Janelle,
Since you know what mutations you and your husband carry, having your child tested would actually be pretty simple, compared to what most people have to go through in getting their kids tested. Ambry (the company that offers the most comprehensive CF testing) can do a test looking for JUST those two mutations, greatly reducing the cost and time it would take to get results back. It would give you a conclusive answer one way or the other. Since I wasn't sure if you knew this test was available (most of our kids need the test looking for 1,500+ mutations) I wanted to be sure to mention it.

Re. the vas deferens problem you came across~

Any male with CF- something like 95%, regardless of mutation, has a very high chance of having problems with the vas deferens (CBAVD: congenital bilateral absence of vas deferens.) However, some specific mutations result in almost no symptoms except for this and they sometimes aren't dx'ed until later in life, when they find they are unable to father children.

This can be determined in young children, but it can be very difficult. Sometimes it can be 'felt' on external exam whether or not the vas deferens is present, but there are also nerves and blood vessels there in the same area, so it's a subjective exam and can greatly depend on the expertise of the dr. Some will also attempt to dx by ultrasound of the area, but other drs will not do this prior to puberty. My son's dx is up in the air right now and CBAVD is likely going to be one of the ways we determine whether or not he has CF- so far external exam has been 'inconclusive' and his drs have not felt an u/s would be accurate and won't do it. A sperm count is often done to determine this and he's not old enough for that yet.

I wish you the very best for your dd and hope she remains healthy <img src="i/expressions/face-icon-small-smile.gif" border="0">

hmw · Dec 28, 2009

Janelle,
Since you know what mutations you and your husband carry, having your child tested would actually be pretty simple, compared to what most people have to go through in getting their kids tested. Ambry (the company that offers the most comprehensive CF testing) can do a test looking for JUST those two mutations, greatly reducing the cost and time it would take to get results back. It would give you a conclusive answer one way or the other. Since I wasn't sure if you knew this test was available (most of our kids need the test looking for 1,500+ mutations) I wanted to be sure to mention it.

Re. the vas deferens problem you came across~

Any male with CF- something like 95%, regardless of mutation, has a very high chance of having problems with the vas deferens (CBAVD: congenital bilateral absence of vas deferens.) However, some specific mutations result in almost no symptoms except for this and they sometimes aren't dx'ed until later in life, when they find they are unable to father children.

This can be determined in young children, but it can be very difficult. Sometimes it can be 'felt' on external exam whether or not the vas deferens is present, but there are also nerves and blood vessels there in the same area, so it's a subjective exam and can greatly depend on the expertise of the dr. Some will also attempt to dx by ultrasound of the area, but other drs will not do this prior to puberty. My son's dx is up in the air right now and CBAVD is likely going to be one of the ways we determine whether or not he has CF- so far external exam has been 'inconclusive' and his drs have not felt an u/s would be accurate and won't do it. A sperm count is often done to determine this and he's not old enough for that yet.

I wish you the very best for your dd and hope she remains healthy <img src="i/expressions/face-icon-small-smile.gif" border="0">

hmw · Dec 28, 2009

Janelle,
Since you know what mutations you and your husband carry, having your child tested would actually be pretty simple, compared to what most people have to go through in getting their kids tested. Ambry (the company that offers the most comprehensive CF testing) can do a test looking for JUST those two mutations, greatly reducing the cost and time it would take to get results back. It would give you a conclusive answer one way or the other. Since I wasn't sure if you knew this test was available (most of our kids need the test looking for 1,500+ mutations) I wanted to be sure to mention it.

Re. the vas deferens problem you came across~

Any male with CF- something like 95%, regardless of mutation, has a very high chance of having problems with the vas deferens (CBAVD: congenital bilateral absence of vas deferens.) However, some specific mutations result in almost no symptoms except for this and they sometimes aren't dx'ed until later in life, when they find they are unable to father children.

This can be determined in young children, but it can be very difficult. Sometimes it can be 'felt' on external exam whether or not the vas deferens is present, but there are also nerves and blood vessels there in the same area, so it's a subjective exam and can greatly depend on the expertise of the dr. Some will also attempt to dx by ultrasound of the area, but other drs will not do this prior to puberty. My son's dx is up in the air right now and CBAVD is likely going to be one of the ways we determine whether or not he has CF- so far external exam has been 'inconclusive' and his drs have not felt an u/s would be accurate and won't do it. A sperm count is often done to determine this and he's not old enough for that yet.

I wish you the very best for your dd and hope she remains healthy <img src="i/expressions/face-icon-small-smile.gif" border="0">

hmw · Dec 28, 2009

Janelle,
 Since you know what mutations you and your husband carry, having your child tested would actually be pretty simple, compared to what most people have to go through in getting their kids tested. Ambry (the company that offers the most comprehensive CF testing) can do a test looking for JUST those two mutations, greatly reducing the cost and time it would take to get results back. It would give you a conclusive answer one way or the other. Since I wasn't sure if you knew this test was available (most of our kids need the test looking for 1,500+ mutations) I wanted to be sure to mention it.
 
 Re. the vas deferens problem you came across~
 
 Any male with CF- something like 95%, regardless of mutation, has a very high chance of having problems with the vas deferens (CBAVD: congenital bilateral absence of vas deferens.) However, some specific mutations result in almost no symptoms except for this and they sometimes aren't dx'ed until later in life, when they find they are unable to father children.
 
 This can be determined in young children, but it can be very difficult. Sometimes it can be 'felt' on external exam whether or not the vas deferens is present, but there are also nerves and blood vessels there in the same area, so it's a subjective exam and can greatly depend on the expertise of the dr. Some will also attempt to dx by ultrasound of the area, but other drs will not do this prior to puberty. My son's dx is up in the air right now and CBAVD is likely going to be one of the ways we determine whether or not he has CF- so far external exam has been 'inconclusive' and his drs have not felt an u/s would be accurate and won't do it. A sperm count is often done to determine this and he's not old enough for that yet.
 
 I wish you the very best for your dd and hope she remains healthy <img src="i/expressions/face-icon-small-smile.gif" border="0">

R117H question

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