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Thread: F508 & d110h

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  1. #1
    Jeannie85
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    F508 & d110h

    Hi, I am new to this site. Curious if anyone has f508 & d110h? My daughter is 15 months and was diagnosed on newborn screening. My husband and I have dealt with this for over a year, but still cannot accept it. We feel as though she has not one symptom.....which is a good thing.....but makes it hard to accept something we dont see. We were told that from what they know it should be mild. Wish we could see into the future!

  2. #2
    Super Moderator
    Join Date
    Mar 2012
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    2,035
    Dear mom,
    welcome! I just did a quick google and it looks like your precious daughter is one of the "lucky" ones because the d110h is a mild conducive mutation which studies show might be helped with kalydeco. Not sure if you follow the research, but that is a drug that fixes in part the mutation defect. And there are drugs in the pipeline that within five years could get your daughter cftr gene function to close to 80%. So by the times she's ready for school, she'll have near normal functioning genes! That she's been so healthy is great be sure if she doesn't have any damage then the drugs can keep it that way. I know how hard this is but there is so much hope so close for her. Hugs and prayers,
    Love

  3. #3
    Jeannie85
    Guest
    Wow! Thank you for a quick response! That is great to hear! I wonder why her team never has mentioned kalydeco?! I pray with her every night that they find a cure and until they do, that God keep his healing hands around her!

  4. #4
    Super Moderator
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    Mar 2012
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    They haven't tested it yet but in vitro indicates it works. Do a search on here for the d110h and sixtyfiveroses has a great summary and link to the article on it.

  5. #5
    Jeannie85
    Guest
    Is the combination that my daughter has rare? I'm surprised nobody else has read this and has D110H......good thing or bad thing?

  6. #6
    Senior Member
    Join Date
    Sep 2009
    Posts
    2,754
    Like your daughter, I have Delta F508 and another milder/rare mutation. I will be 75 in January and have been married for more than 50 years. I have a college education. I played varsity basketball (poorly but I played) in college. I was a lifeguard for 5 years on an Atlantic Ocean Beach.

    Cystic Fibrosis is NOT a death sentence. Your daughter will go on to live a long and relatively healthy life and in time you will likely become a Grandmother.

    Let me add, it is crucial that she be regularly seen at an APPROVED CYSTIC FIBROSIS CLINIC by a CYSTIC FIBROSIS SPECIALIST. Your local Doctor may be a great person & Doctor but is unqualified to treat CF.

    Bill
    Male 77 CF undetected until age 47. (First symptoms at age 3) Delta F508 & V562I with one copy of Variant 5T. 100% PI. MAC, CFRD.

  7. #7
    Jeannie85
    Guest
    That is great to hear! I'm excited to know your accomplishments and it gives me great hope!

  8. #8
    Senior Member
    Join Date
    Sep 2009
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    2,754
    Jeannie85:

    I am not the oldest CF Patient. There is a women out here who is 76 and someone in the CFF Register in the mid 80's.

    Bill
    Male 77 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
    Just to echo what others have said, make sure you take your daughter to a CF clinic. I have F508 & d110h2 and I was never sick as a child. I was diagnosed when I was 30 after years of chronic infections in my lungs. While I was healthy for most of my life, I can't help but think earlier detection would've helped me. I am now 38 and my PFTs are in the 35 range and I have started working with a transplant center because of thde damage to my lungs. I feel okay and I am lucky to have the health that I have, however, I sometimes think my lungs would be in much better shape had I known the root cause of my issues from birth. I certainly would not have smoked in college.

  10. #10
    Jeannie85
    Guest
    Oh yes, she had been going to the cf clinic since birth, every 3 months. BREEALYSIA- is d110h2 different from d110h? Would you say you were asymptomatic as a child?

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