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Thread: Who can explain this mutation? Delta 508f/c.2274_2275delinsT

  1. #1
    Junior Member
    Join Date
    Dec 2017
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    2

    Who can explain this mutation? Delta 508f/c.2274_2275delinsT

    Ok.i read about Delta but the other one is giving me heartache. Both my children have it. I was told that this is a very rare mutation,that they are the only ones with it....but what class is it?what can we expect for the future?is there any future for my children? Daughter is 2.5 and son 7 months.both pancreatic insufficient with son born with meconium ileus.
    Can anyone help?

  2. #2
    Delta F508 means a "deletion" at F508. This is usually written F508del.

    https://www.cff.org/Care/Clinician-R...lysis-Program/

    i would click that link and get in touch with someone at Johns Hopkins Genomics.

    I just searched several CF mutation databases and could not find yours.

    I hope this helps. I know this is pretty scary for a mom. Hang in there.

  3. #3
    Junior Member
    Join Date
    Dec 2017
    Posts
    2
    Thank you.will write to them. Already contacted UK cf trust, as I live in UK. They could not help with this hence I tried this site.hopefully they will be able to shedsome light on this matter. This cf nightmare came onto usso suddenly. No one else in the family have it. We are fighting every day and are hopeful for the future but I just want to know. Apart of me hopes this might be the mild one but I am also expecting the worst trying to remember that each person is affected differently, which is proven by the example of my children.
    Goodluck to you. All the best. And thank you.

  4. #4
    Mama K,
    It does seem like that second mutation is super rare, I also couldn't find it in any databases so I hope that UK CF trust is able to answer you. But I wanted to address the second part of your question - yes, absolutely, there is a future for your children. There has never been a better time to be alive for people with CF. Infants born today are, on average, expected to live at least into their 50s. There are therapies currently in clinical trials that could be approved as early as next year for people with dF508 that will increase that live expectancy possibly into the 70s. Also, what mutation your children have doesn't really predict how their CF will go - there are a few things we can say like some mutation classes tend to be pancreatic sufficient, but by and large CF is a highly individual disease and mutation class is just one very small part of the picture. I have two copies of the dF508 mutation, which is considered to be a "severe" mutation, but I have nearly normal lung function and am 24 and pursuing a PhD. That's not to say that CF hasn't presented its challenges, but it is much more "livable" now than it was even 20 years ago when I was born.
    I am happy to answer any more questions you may have - I'm sure you are overwhelmed at the moment. Hang in there.

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