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Thread: DeltaF508 and R117H 7T

  1. #1
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    DeltaF508 and R117H 7T

    My husband and I found out that we are carriers of the two genes Delta F508 and R117H 7T when we were pregnant with our first child. We are considering having another child and want to know if there is anyone who knows what the outcome of this gene combination would be. It is very difficult to find info on the different gene combinations, so any info and insight would be helpful.

  2. #2
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    RE:DeltaF508 and R117H 7T

    Basically it doesn't matter what gene you carry - the fact is that both of you carry a CF gene. Therefore, you have a 25% chance of having a child with CF, a 50% chance of having a child who is a CF carrier (just like both of you), and a 25% chance of having a child without a CF gene at all.

    Regarding the specific genes, I don't think anyone can tell you what the combination of the two genes would do. I know there are some genes out there that cause "mild" cases of CF. However, it seems that no matter what, CF is a disease that affects each person differently. In fact there are people with the exact same gene combination that experience different levels of health and different severities of symptoms.

    So to answer your question, I don't think your genes will give you the necessary clues as to what your child's future has in store. I think that question is best answered in your heart. Both of you need to decide if you want another child and whether or not you feel able to raise a child with medical needs. Only you know what is right for you, your family, and your future child.

    I wish you the best of luck. From a personal standpoint, I have three children - the oldest one has CF. We decided to go ahead and have our third child (the second was already born when our son was dx). It was a hard decision. I was so scared what the future had in store. Fortunately, Allison was born healthy and CF free (although she is a carrier). I can't imagine life without her. All of my children are the light of my life and I am so thankful for the opportunity to watch them grow.

    Good luck,
    Katrina -- mother to Sean (6) w/cf, Carolyn (5) w/o cf, and Allison (3) w/o cf

  3. #3
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    RE:DeltaF508 and R117H 7T

    ditto everything what Katrina said and an emphasis on the fact that even people with the same CF mutations has their CF affect them differently. There is still research going on to determine what factor of the CF genes contribute most to a persons severity or if there is some sort of modifying mutation/gene that determines that.
    If you have the money, there is pre-genetic implantation testing that will guarantee you will not have a child with CF but it is very costly.

    Good luck,

    Julie

  4. #4
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    DeltaF508 and R117H 7T

    This gene combination does not usually cause severe cases of CF, and a person with this can even be asymptomatic. My genetic counselor told me that the R117H mutation is a very weak one (causing lighter effects than others), and I've read that the 7T poly-T variant of this is a better one to have than the 5T poly-T variant. The only people who have been found to genetically have CF and have no symptoms have this *exact* gene combination. The symptoms of this gene combination can range from moderate lung congestion to no symptoms at all (except for men, who will most likely not have a vas deferens). Usually there are no pancreatic disorders with this gene combo. So, if you have the Delta F508 with R117H 7T, you are very lucky!

    I was just genetically diagnosed with both the Delta F508 and R117H mutations (at 33 years old), and found out because I am pregnant. I had no known symptoms before, other than several weeks of bronchitis about every other year as a child, and pneumonia once when I was 12, but I am otherwise very healthy. I haven't had a chest cold in the past 5 years, which means that if I have symptoms of CF at all, they're only at the extreme minimum. For all I know, my digestive system works just fine. Luckily, my husband is not a carrier, which means that our baby will be negative for CF. Now, I can breathe a big sigh of relief.

  5. #5
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    DeltaF508 and R117H 7T

    This gene combination does not usually cause severe cases of CF, and a person with this can even be asymptomatic. My genetic counselor told me that the R117H mutation is a very weak one (causing lighter effects than others), and I've read that the 7T poly-T variant of this is a better one to have than the 5T poly-T variant. The only people who have been found to genetically have CF and have no symptoms have this *exact* gene combination. The symptoms of this gene combination can range from moderate lung congestion to no symptoms at all (except for men, who will most likely not have a vas deferens). Usually there are no pancreatic disorders with this gene combo. So, if you have the Delta F508 with R117H 7T, you are very lucky!

    I was just genetically diagnosed with both the Delta F508 and R117H mutations (at 33 years old), and found out because I am pregnant. I had no known symptoms before, other than several weeks of bronchitis about every other year as a child, and pneumonia once when I was 12, but I am otherwise very healthy. I haven't had a chest cold in the past 5 years, which means that if I have symptoms of CF at all, they're only at the extreme minimum. For all I know, my digestive system works just fine. Luckily, my husband is not a carrier, which means that our baby will be negative for CF. Now, I can breathe a big sigh of relief.

  6. #6
    Junior Member
    Join Date
    Feb 2007
    Posts
    17

    DeltaF508 and R117H 7T

    This gene combination does not usually cause severe cases of CF, and a person with this can even be asymptomatic. My genetic counselor told me that the R117H mutation is a very weak one (causing lighter effects than others), and I've read that the 7T poly-T variant of this is a better one to have than the 5T poly-T variant. The only people who have been found to genetically have CF and have no symptoms have this *exact* gene combination. The symptoms of this gene combination can range from moderate lung congestion to no symptoms at all (except for men, who will most likely not have a vas deferens). Usually there are no pancreatic disorders with this gene combo. So, if you have the Delta F508 with R117H 7T, you are very lucky!

    I was just genetically diagnosed with both the Delta F508 and R117H mutations (at 33 years old), and found out because I am pregnant. I had no known symptoms before, other than several weeks of bronchitis about every other year as a child, and pneumonia once when I was 12, but I am otherwise very healthy. I haven't had a chest cold in the past 5 years, which means that if I have symptoms of CF at all, they're only at the extreme minimum. For all I know, my digestive system works just fine. Luckily, my husband is not a carrier, which means that our baby will be negative for CF. Now, I can breathe a big sigh of relief.

  7. #7
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    DeltaF508 and R117H 7T

    Another ditto here :-)

    My kids have this same gene combination. It is the R117H that keeps them mild (the mild gene will always win out over the more severe one) Yes, T-7 is better than T-5... it means the gene is functioning closer to "normal" which in turn helps the person with CF to function closer to normal.

    Everyone else's advice about not knowing for sure is correct, even twins with the same mutations, environment & treatment will progress at different rates.

    Having said that, I think this gene combination usually creates a more mild case (generally speaking) it also is well known for pancreatic sufficiency and lack of vas deferins (in boys)

    Everyone I have ever met (all on this web site) that have this gene combination have a similar mild case (like my daughter) and I know of one other non-symptomatic person (like my son)

    If you are interested, read the first entry on my blog page (link is in my signature line) for more details about my kids.

  8. #8
    Senior Member
    Join Date
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    DeltaF508 and R117H 7T

    Another ditto here :-)

    My kids have this same gene combination. It is the R117H that keeps them mild (the mild gene will always win out over the more severe one) Yes, T-7 is better than T-5... it means the gene is functioning closer to "normal" which in turn helps the person with CF to function closer to normal.

    Everyone else's advice about not knowing for sure is correct, even twins with the same mutations, environment & treatment will progress at different rates.

    Having said that, I think this gene combination usually creates a more mild case (generally speaking) it also is well known for pancreatic sufficiency and lack of vas deferins (in boys)

    Everyone I have ever met (all on this web site) that have this gene combination have a similar mild case (like my daughter) and I know of one other non-symptomatic person (like my son)

    If you are interested, read the first entry on my blog page (link is in my signature line) for more details about my kids.

  9. #9
    Senior Member
    Join Date
    Oct 2005
    Posts
    4,670

    DeltaF508 and R117H 7T

    Another ditto here :-)

    My kids have this same gene combination. It is the R117H that keeps them mild (the mild gene will always win out over the more severe one) Yes, T-7 is better than T-5... it means the gene is functioning closer to "normal" which in turn helps the person with CF to function closer to normal.

    Everyone else's advice about not knowing for sure is correct, even twins with the same mutations, environment & treatment will progress at different rates.

    Having said that, I think this gene combination usually creates a more mild case (generally speaking) it also is well known for pancreatic sufficiency and lack of vas deferins (in boys)

    Everyone I have ever met (all on this web site) that have this gene combination have a similar mild case (like my daughter) and I know of one other non-symptomatic person (like my son)

    If you are interested, read the first entry on my blog page (link is in my signature line) for more details about my kids.

  10. #10
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    DeltaF508 and R117H 7T

    yes our son has the same combination, and his doctor refers it to being 'mild'. He is pancreatic sufficient, although he takes vitamins. I also have the RH117-7T, but twice, and I have no symptoms whatsoever, to that end I have not been dx as having CF. Maybe this bears out what is being said of the RH117, being the mild gene that overides, who really knows?

    Should also say that taking all this into account, we still decided that it was not worth the risk in having another child, we were lucky in that our first born is only a carrier, remember it is a 1-2 chance for us to have a CF child. Anyway I had a vasectomy so there is no chance.

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