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Thread: DeltaF508 and R117H

  1. #1

    Question DeltaF508 and R117H

    Hello everyone,

    I am 24 years old and was just informed by my genetic consular that I have both the DeltaF508 and R117H mutations. This came as a bit of a surprise, as I have been asymptomatic or had mild symptoms my whole life. We are unsure if I have the 7T or 9T alleles. I was tested because my husband and I are planning on starting a family and there is a case of CF on my father's side of the family. My husband's side of the family has no history of CF but since he is of European decent, we decided it was a good idea to have him tested, too. He came back negative for the most common CF mutations.

    Our genetic consular was very nice, but she spoke English with a very thick accent. There was a little bit of a language barrier during our appointment and I was hoping someone may be able to clarify a few questions for me.

    Our genetic consular implied that these mutations could be on the same chromosome or on different ones. She talked a little bit about how the 5T can cause infertility in males. Can the DeltaF508 and the R117H mutations be on the same chromosome? If so, does it really matter if I have the 7T or 9T alleles? Would having the DeltaF508 and the R117H on the same chromosome would affect fertility in a male child if he did NOT inherit another CF mutation from his father?

    If anyone can please clear up this confusion for us, it would be greatly appreciated!

    Thank you!

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  2. #2
    There are many knowledgeable people on this forum...hope they get back to you. So, to clarify, you have CF? They are studying a great new drug on your R117H mutation--but it sounds like you wouldn't qualify b/c you are so unaffected by disease...good lucky finding your answers.

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  3. #3
    My doctor stated that in order to be diagnosed with CF, I would need to display symptoms. I have a plethora of tests this coming week to see if I am displaying minor symptoms that I have been unaware of.

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  4. #4

    Alot of Doctors are totaly ignorant about CF. There is no question that you have Cystic Fibrosis, you do. You need to be seen by a CF Specialist at an Approved CF Center. It is important to know that there are almost 2000 CF mutations. Given that your husband was tested for the most common, he was tested for less than 250 of the 2000.

    Husband should be given a FULL CF SEQUENCING.

    Good luck,


    If your husband tested negative, given the

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    Male 75 CF undetected until age 47. (First symptoms at age 3) Delta F508 & V562I with one copy of Variant 5T. 100% PI. MAC, CFRD.

  5. #5
    All of my care is being done at the Mayo Clinic in Minnesota, so I am sure I am in good hands. My husband and I have discussed having him tested for the rest of the CF mutations. We do not know if this will be covered by our insurance. Regardless of if we have him tested or not, we are still going to have children and those results will not change that. As a result, we are determining if the cost of having him tested again for more mutations is really worth it.

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  6. #6
    Hi, I have almost the same mutations as you. F508d/R117C. By reading on this forum for a couple of years, I have found that the symptoms of r117h and r117c are about the same. Lung and sinus problems but PS. I cannot tell you if the mutations are on the same cromosone or not...just wanted to reply and see how you are doing healthwise. Have you not experienced any health issues at all? No 'having a cold all my life' or daily mucus or sinus headaches? I was diagnosd with mild cf at 32, but at 24 as you are now, I did have symptoms, just didn't know what they were and the are more severe now. As to having symptoms to be able to be diagnosed I disagree. You have two mutations therefore you have cf. Your symptoms will most surely come ( would be strange if not). My partner has also been tested and came back negative, but has not had the full panel testing. Not possible here in spain. But we are most likely going to try for a baby also...Hope to hear from you soon.

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    Gunhild Ellefsen, Faroese female living in Spain



    That is the way the cookie crumbles...

  7. #7
    Hi genelle,

    I have always gotten sinus headaches but attributed them to seasonal allergies as they only occurred during spring and fall. However, I am finding that as I get older I am getting more frequent sinus headaches. I also had an upper respiratory infection in August, something that I have never experienced before. As a child I didn't get colds or the flu at a rate any different from other children. If anything, I got sick less often then other children. As an adult, I do not get sick very often. However, when I do, I get really sick. I often have to miss school or work because of it. However, I have never been hospitalized due to a cold or flu.

    I do find that I am very sensitive to cigarette smoke. If someone walks by me on the sidewalk with a cigarette in their mouth I almost instantly get a sinus headache. Does this happen to you as well?

    I hope you and your partner have a smooth conception and pregnancy!


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  8. #8
    OMG. If you have CF (and you do) and your husband has CF, EVERYONE OF YOUR CHILDREN WILL HAVE CF.

    If your husband is a carrier (one mutation) there is a 50% chance that your child will have CF and a 50% chance that your child will be a carrier.

    Just because you are being seen at the Mayo Clinic, does not mean that you are being seen by a CF Specialist. You DO NOT need to "show symptoms" to be dx with CF.


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    Male 75 CF undetected until age 47. (First symptoms at age 3) Delta F508 & V562I with one copy of Variant 5T. 100% PI. MAC, CFRD.

  9. #9
    I have the same gene combination as you. I am 47 and was diagnosed at 37. I had always had lung issues growing up. My lung function was 107% 10 years ago and now it's 92%. I'm now starting daily physio and should exercise 5 times a week -cardio. In the last 10 months my lung function has dropped just over 8%. You'll probably hear from other Cf'ers with the same combo ...will tell you the same thing mild CF doesn't always stay that way. My hub was tested and he is not a carrier. I have 2 young daughters who are both carriers (no CF) It's really important to have your husband tested for a full sequencing. The D508 is the more severe gene. Your genetic specialist should share with you the chances of having a baby with CF. if you would like to chat further You can send me a private message. It's scary when you are first diagnosed and it helps to talk to someone else who's been there. Take care.

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  10. #10
    I have the same mutations as you so I must tell you: you DO have CF and it WILL get worse. In fact I was diagnosed at 24 as well. Except for a nagging cough I was pretty healthy when I was diagnosed and remained that way for many years. Our local doctors had no idea about CF so they sent me to Mayo Clinic. I'm sorry to say that Mayo was no help at all. They are a great hospital but not for CF. Getting to a CF center is the most important thing you can do. Genetic testing was not available so my husband and I took our chances and we have 2 healthy children. However, over the years I developed several nasty infections including MAC. I don't want to be negative but want to stress the importance of being seeing by a CF center and taking care of yourself NOW before the progression starts.
    My second piece of advice is EXERCISE. I wish I had started at age 24. Exercise is more helpful than a vest and meds at times. It took me many years to find something I could stick with but now I work out 5 days a week and I am in the best shape and health ever at age 52. Good luck to you.

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