Daughter diagnosed with CF DeltaF508 and R117C, 7T gene

S

smarra

Guest
Hello,

My daughter is 18 months old and was diagnosed at 3 weeks with CF (only due to a newborn screening test). She has the DeltaF508 and R117C, 7T genes. She has no symptoms to date. Does anyone have these genes? The doctors don't know what to tells us as they don't have a lot of experience with this genetic combination. If anyone has these genes and could share your symptoms with us we would really appreicate it. We'd just like to know what to expect.
 
S

smarra

Guest
Hello,

My daughter is 18 months old and was diagnosed at 3 weeks with CF (only due to a newborn screening test). She has the DeltaF508 and R117C, 7T genes. She has no symptoms to date. Does anyone have these genes? The doctors don't know what to tells us as they don't have a lot of experience with this genetic combination. If anyone has these genes and could share your symptoms with us we would really appreicate it. We'd just like to know what to expect.
 
S

smarra

Guest
Hello,

My daughter is 18 months old and was diagnosed at 3 weeks with CF (only due to a newborn screening test). She has the DeltaF508 and R117C, 7T genes. She has no symptoms to date. Does anyone have these genes? The doctors don't know what to tells us as they don't have a lot of experience with this genetic combination. If anyone has these genes and could share your symptoms with us we would really appreicate it. We'd just like to know what to expect.
 
S

smarra

Guest
Hello,

My daughter is 18 months old and was diagnosed at 3 weeks with CF (only due to a newborn screening test). She has the DeltaF508 and R117C, 7T genes. She has no symptoms to date. Does anyone have these genes? The doctors don't know what to tells us as they don't have a lot of experience with this genetic combination. If anyone has these genes and could share your symptoms with us we would really appreicate it. We'd just like to know what to expect.
 
S

smarra

Guest
Hello,
<br />
<br />My daughter is 18 months old and was diagnosed at 3 weeks with CF (only due to a newborn screening test). She has the DeltaF508 and R117C, 7T genes. She has no symptoms to date. Does anyone have these genes? The doctors don't know what to tells us as they don't have a lot of experience with this genetic combination. If anyone has these genes and could share your symptoms with us we would really appreicate it. We'd just like to know what to expect.
 
H

hmw

New member
As far as knowing what to expect: that is a hard one, because even people with identical mutations can have a very different disease presentation. I am glad you found an adult on the forums here with your dd's mutation combination though, since that can help! I'd also suggest you post on the thread in the 'Families' forum titled 'Welcome Ambry Genetics.' Steve, a contributor to the thread there, is with Ambry and very knowledgeable. He won't be able to tell you with complete certainty what your daughter's course will be, but will be able to share with you what is known to date about the R117C mutation and the significance of the 7T. (The DF508 is the most common mutation and much more is known about that one.)

I would also like to welcome you here and tell you how glad I am that your daughter has been so healthy to date. I hope that continues for many yrs! <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
H

hmw

New member
As far as knowing what to expect: that is a hard one, because even people with identical mutations can have a very different disease presentation. I am glad you found an adult on the forums here with your dd's mutation combination though, since that can help! I'd also suggest you post on the thread in the 'Families' forum titled 'Welcome Ambry Genetics.' Steve, a contributor to the thread there, is with Ambry and very knowledgeable. He won't be able to tell you with complete certainty what your daughter's course will be, but will be able to share with you what is known to date about the R117C mutation and the significance of the 7T. (The DF508 is the most common mutation and much more is known about that one.)

I would also like to welcome you here and tell you how glad I am that your daughter has been so healthy to date. I hope that continues for many yrs! <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
H

hmw

New member
As far as knowing what to expect: that is a hard one, because even people with identical mutations can have a very different disease presentation. I am glad you found an adult on the forums here with your dd's mutation combination though, since that can help! I'd also suggest you post on the thread in the 'Families' forum titled 'Welcome Ambry Genetics.' Steve, a contributor to the thread there, is with Ambry and very knowledgeable. He won't be able to tell you with complete certainty what your daughter's course will be, but will be able to share with you what is known to date about the R117C mutation and the significance of the 7T. (The DF508 is the most common mutation and much more is known about that one.)

I would also like to welcome you here and tell you how glad I am that your daughter has been so healthy to date. I hope that continues for many yrs! <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
H

hmw

New member
As far as knowing what to expect: that is a hard one, because even people with identical mutations can have a very different disease presentation. I am glad you found an adult on the forums here with your dd's mutation combination though, since that can help! I'd also suggest you post on the thread in the 'Families' forum titled 'Welcome Ambry Genetics.' Steve, a contributor to the thread there, is with Ambry and very knowledgeable. He won't be able to tell you with complete certainty what your daughter's course will be, but will be able to share with you what is known to date about the R117C mutation and the significance of the 7T. (The DF508 is the most common mutation and much more is known about that one.)

I would also like to welcome you here and tell you how glad I am that your daughter has been so healthy to date. I hope that continues for many yrs! <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
H

hmw

New member
As far as knowing what to expect: that is a hard one, because even people with identical mutations can have a very different disease presentation. I am glad you found an adult on the forums here with your dd's mutation combination though, since that can help! I'd also suggest you post on the thread in the 'Families' forum titled 'Welcome Ambry Genetics.' Steve, a contributor to the thread there, is with Ambry and very knowledgeable. He won't be able to tell you with complete certainty what your daughter's course will be, but will be able to share with you what is known to date about the R117C mutation and the significance of the 7T. (The DF508 is the most common mutation and much more is known about that one.)
<br />
<br />I would also like to welcome you here and tell you how glad I am that your daughter has been so healthy to date. I hope that continues for many yrs! <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
E

Edwena226

Guest
Hi smarra! I know this is an older thread, but I was wondering if you could give me some insight on how your daughter is doing? My daughter is almost three months old, and has been diagnosed df508/r117c (7t/9t). So far, she is pancreatic sufficient (& I sure hope it remains that way).We do daily breathing treatments and CPT all for preventative measures....showing no signs as of now. I've just been a basket case over all of this so Id appreciate any insight you may have. Thanks in advance!
 
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