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2024-07-08 13:47:55

Rare Mutation? Anyone ever seen this?

I’m not an expert, in fact I’m an idiot!

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Hey. Thanks for replying. This is actually my wifes mutation that came back on the genetic testing result. Mine was f508d. We are expecting our first child (boy) in december and of course like many others were shocked that we both carry the gene. I know the chances of our baby being born with CF and we are both ready to face it if in fact he is born with it. There is tons of info on my mutation, but really nothing on the internet about hers whatsoever. ChatGPT says hers is severe...not sure how much to trust that lol. Anyway thank you again for taking the time to reply.

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Even people with the same mutation have different severities and outcomes! Just follow your CF doc’s guidance with lifestyle and treatments. It’s really all you can do. And as many threads on here discuss, there’s no better time than now to be born with CF because therapies are only getting better. Congrats on the kiddo!

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thank you! We are beyond excited CF or not !

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