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Cystic fibrosis moms

di0607di0607 member
in Special Needs
It was recommended that DS2 get tested due to numerous infections. DH and I had IF and were genetically tested I have to check on what the specific diseases were. If neither one of us is a carrier as I understand CF is a recessive gene, can he still have CF? Is there a mutation that is spontaneous? We have no family history of CF only allergies and asthma.
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Re: Cystic fibrosis moms

  • amajaneamajane member
    I am a IF nurse and we offer genetic testing at our clinic to test patients for 13 of the most common autosomal recessive diseases (CF being one of them). With CF, there are over 1000 mutations that cause it. We, and the general medical community, only test for the most common 97 mutations. If a patient tests negative to be a carrier of the 97 mutations it is very unlikely that he or she is a carrier, but you can't rule it out completely. So you can have a child with CF and test negative on your genetic testing. I'm not sure if CF can be a spontaneous mutation but probably can be.
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  • CagleBabyCagleBaby member

    Both my husband and I have very rare mutations. We didn't even know we were carriers. My older two kids are just carriers but my youngest has CF. We didn't even know that we were carriers until my youngest was 7 months old.

     

    i would get the testing done just to make sure. And good luck. 

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  • di0607di0607 member
    We are in the Philly area. Is there a specific dr you would recommend?
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