Page 3 of 4 FirstFirst 1234 LastLast
Results 21 to 30 of 37

Thread: DeltaF508 and R117H 7T

  1. #21

    DeltaF508 and R117H 7T

    My husband has two mutations - the Delta F508 and also the 5T. He has no symptoms other than CBAVD - congenital bilateral absence of the vas deferens - which makes pregnancy possible only through IVF.

    Right now, we're considering IVF and PGD. Either way, having a child when you know CF is a factor is a heavy decision. My thoughts are with you.

  2. #22
    lemonstolemonade
    Guest

    DeltaF508 and R117H 7T

    my3boys,

    We had "conflicting" prenatal opinions to when we found out Abby would have CF. One genetic counselor said that our perinatal doctor had "overstated" her genetic diagnosis and another told us that we needed to "prepare for the worst and know that each case manifests itself differently." We took the advice of the latter because we didn't want to be blindsided.

    Our Abby has the same gene combination as the originator, and she's had RSV already and her mucus is like pulling out string cheese (I'm sorry, TMI, I know). She doesn't have "runny noses" she has chunky noses, but it isn't formed. It is really gross. I can only attribute it to her CF. Our 2 year old didn't have congestion like Abby does.

    She's still considered asymptomatic, but we do breathing treatments. We're not on enzymes because she is pancreatic sufficient and is already a little chunk. <img src="i/expressions/face-icon-small-smile.gif" border="0"> She's in the 50th percentile for weight so we're doing good.

    It is interesting to me how some genetic counselors who have no real day to day experience with CF will make blanket statements about how a case will be "mild" or that we shouldn't experience anything because of the mutations. I personally think that genetic counselors who don't have a full picture or extensive knowledge about the disease they are discussing with a client/patient need to step back and turn the situation over to a clinic before they make broad sweeping generalizations about how a disease (any disease, not just CF) will manifest itself in any person, especially an unborn child!!!

    That's my two cents. Must go change the channel. It is time for Blue's Room here!

    Emily

  3. #23
    lemonstolemonade
    Guest

    DeltaF508 and R117H 7T

    my3boys,

    We had "conflicting" prenatal opinions to when we found out Abby would have CF. One genetic counselor said that our perinatal doctor had "overstated" her genetic diagnosis and another told us that we needed to "prepare for the worst and know that each case manifests itself differently." We took the advice of the latter because we didn't want to be blindsided.

    Our Abby has the same gene combination as the originator, and she's had RSV already and her mucus is like pulling out string cheese (I'm sorry, TMI, I know). She doesn't have "runny noses" she has chunky noses, but it isn't formed. It is really gross. I can only attribute it to her CF. Our 2 year old didn't have congestion like Abby does.

    She's still considered asymptomatic, but we do breathing treatments. We're not on enzymes because she is pancreatic sufficient and is already a little chunk. <img src="i/expressions/face-icon-small-smile.gif" border="0"> She's in the 50th percentile for weight so we're doing good.

    It is interesting to me how some genetic counselors who have no real day to day experience with CF will make blanket statements about how a case will be "mild" or that we shouldn't experience anything because of the mutations. I personally think that genetic counselors who don't have a full picture or extensive knowledge about the disease they are discussing with a client/patient need to step back and turn the situation over to a clinic before they make broad sweeping generalizations about how a disease (any disease, not just CF) will manifest itself in any person, especially an unborn child!!!

    That's my two cents. Must go change the channel. It is time for Blue's Room here!

    Emily

  4. #24
    lemonstolemonade
    Guest

    DeltaF508 and R117H 7T

    my3boys,

    We had "conflicting" prenatal opinions to when we found out Abby would have CF. One genetic counselor said that our perinatal doctor had "overstated" her genetic diagnosis and another told us that we needed to "prepare for the worst and know that each case manifests itself differently." We took the advice of the latter because we didn't want to be blindsided.

    Our Abby has the same gene combination as the originator, and she's had RSV already and her mucus is like pulling out string cheese (I'm sorry, TMI, I know). She doesn't have "runny noses" she has chunky noses, but it isn't formed. It is really gross. I can only attribute it to her CF. Our 2 year old didn't have congestion like Abby does.

    She's still considered asymptomatic, but we do breathing treatments. We're not on enzymes because she is pancreatic sufficient and is already a little chunk. <img src="i/expressions/face-icon-small-smile.gif" border="0"> She's in the 50th percentile for weight so we're doing good.

    It is interesting to me how some genetic counselors who have no real day to day experience with CF will make blanket statements about how a case will be "mild" or that we shouldn't experience anything because of the mutations. I personally think that genetic counselors who don't have a full picture or extensive knowledge about the disease they are discussing with a client/patient need to step back and turn the situation over to a clinic before they make broad sweeping generalizations about how a disease (any disease, not just CF) will manifest itself in any person, especially an unborn child!!!

    That's my two cents. Must go change the channel. It is time for Blue's Room here!

    Emily

  5. #25
    Senior Member
    Join Date
    Mar 2006
    Posts
    4,037

    DeltaF508 and R117H 7T

    bump

  6. #26
    Senior Member
    Join Date
    Mar 2006
    Posts
    4,037

    DeltaF508 and R117H 7T

    bump

  7. #27
    Senior Member
    Join Date
    Mar 2006
    Posts
    4,037

    DeltaF508 and R117H 7T

    bump

  8. #28
    Senior Member
    Join Date
    Mar 2006
    Posts
    4,037

    DeltaF508 and R117H 7T

    bump

  9. #29
    Senior Member
    Join Date
    Mar 2006
    Posts
    4,037

    DeltaF508 and R117H 7T

    bump

  10. #30
    Senior Member
    Join Date
    Feb 2007
    Posts
    1,005

    DeltaF508 and R117H 7T

    My daughter has mutations W1282X and R117H.
    she's been doing rather well with only a few 'scares' and only 1 hospitalization.
    we've attributed this to the R117H mutation, but live in fear daily of the other one.
    our second daughter is a carrier for R117H, so no CF but she does have some pretty serious allergies which trigger breathing problems (asthma, but they don't seem to call it that anymore).
    overall, our experience has been managable, but we know better than to let our guard down

    --Debbie

Posting Permissions

  • You may not post new threads
  • You may not post replies
  • You may not post attachments
  • You may not edit your posts
  •