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Thread: DeltaF508 c.1584G>A

  1. #1
    Junior Member
    Join Date
    May 2015
    Posts
    3

    DeltaF508 c.1584G>A

    My husband and I are in the process of doing IVF with icsi due to we both carry the Delta F508 and he carries another copy 1584 G>A. We have 2 frozen embryos frozen that have my delta F508 and my husbands 1584G>A. I cannot find much research with this combination. Our doctor said he would not implant due to the fact it could result in symptoms in a child. Even though it has not show symptoms in my husband. We are heartbroken! Does anyone out there know or have any research with this gene combination?

  2. #2
    Super Moderator
    Join Date
    Mar 2012
    Posts
    2,034
    Given that the doctor has refused even though your husband has no symptoms, I doubt other info would convince him. Might I suggest that you consider working with snowflakes http://snowflakeadoption.org/ to find a way to safely transfer your tiny ones to another doctor who would be able to help implant your precious babies.

  3. #3
    Gibson75
    Guest
    I have been told that this mutation can effect the pancreas as it has with my son, who is PI and on creon. He is seen by CF doctors but has not been diagnosed as he continually gets a negative sweat test result. He had mild respiratory issues up until 18 months of age but is now doing very well. He is now 3. There is some reading about this mutation showing mild CF symptoms. My son also has DF508. He has a regular cough and has cultured Staph.A twice. He wrinkles excessively in the bath but this doesn't mean too much. There are known cases with this mutation combination however the data base says c.1584G>A (1716G>A) is not disease causing. This particular mutation is listed in the trial for residual functioning mutations, but I don't understand why they would list this mutation if it is apparently "non disease causing"???
    I would be very interested in any information you may find out.

  4. #4
    chaxey
    Guest
    Quote Originally Posted by Gibson75 View Post
    I have been told that this mutation can effect the pancreas as it has with my son, who is PI and on creon. He is seen by CF doctors but has not been diagnosed as he continually gets a negative sweat test result. He had mild respi....
    Gibson75, I am curious if you are this same poster on the european CF site, econr-cf.eu ???
    http://ecorn-cf.eu/index.php?id=65&L...1%5Bsearch%5D=

  5. #5
    Gibson75
    Guest
    Yes Hi, That was my question on the european site.

    Quote Originally Posted by chaxey View Post
    Gibson75, I am curious if you are this same poster on the european CF site, econr-cf.eu ???
    http://ecorn-cf.eu/index.php?id=65&L...1%5Bsearch%5D=

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