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Post by julienc on Aug 13, 2007 9:47:26 GMT -5
Talked to the geneticist this morning - results are back.
Two confirmed mutations.
Confirmed HFI diagnosis.
It is as I had expected, and it's a relief to not have to think about having to do more testing. They said they want to see me once a year to monitor me.
It seems silly to be happy about this, but it is such a relief to have a REASON for my freakishness after 30 years of being a "picky eater".
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Post by colormist on Aug 13, 2007 20:17:00 GMT -5
Congratuations! You're officially a mutant now! I like to call them the mutant X genes and then profess that, yes, I am a member of the X-men. My power? Ability to spot sweetened foods without touching them. Okay, so it's not a really COOL mutant gene like telekinesis, but it's still a mutant gene. It seems silly to be happy about this, but it is such a relief to have a REASON for my freakishness after 30 years of being a "picky eater". Seconded!
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Post by Tammy on Aug 13, 2007 20:42:33 GMT -5
Alright! I just told Regina she is part of the X-Men!. She can't wait to tell her big brother. She thinks that is just sooooooo cool.
And Congrats Julie! I remember the relief when we finally KNEW. No more guessing.
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millan
Junior Member
Posts: 79
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Post by millan on Aug 17, 2007 2:49:43 GMT -5
Congratulations! Not only a relief for you mentally, but it's also easier to start an explanation with "I am diagnosed with..." rather than "I think that I have..." ;-) So, we're like the X-men, huh? Cool. Oh, I also have two mutations by the way.
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Post by colormist on Aug 17, 2007 7:45:01 GMT -5
I have two mutations as well, but I thought I recalled my geneticist saying that you needed two mutations in order to have HFI? If you just have one mutation, then you're just a carrier. I think. Somebody correct me if I'm wrong.
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Post by julienc on Aug 17, 2007 9:46:18 GMT -5
I have two mutations as well, but I thought I recalled my geneticist saying that you needed two mutations in order to have HFI? If you just have one mutation, then you're just a carrier. I think. Somebody correct me if I'm wrong. Yep, that's right. My geneticist said that he needed to see 2 mutations in order to confirm a diagnosis. If only one mutation came back, then it was still possible I had another that wasn't discovered yet (since the DNA test doesn't yet recognize all of them). However, more testing would have been needed to confirm. (liver biopsy)
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millan
Junior Member
Posts: 79
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Post by millan on Aug 21, 2007 3:45:00 GMT -5
Sorry about my muddy, half-formed writing. I think what I was thinking when I wrote it (a bit rushed and not at all clear) was - do you know which mutations you've got?
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Post by julienc on Aug 21, 2007 6:48:11 GMT -5
do you know which mutations you've got? Not yet. I'm still waiting for the paperwork from the lab, but the doc said it would be listed in the report. We should start a new thread with everyone's mutations. It would be interesting to compare sensitivities. I think I read somewhere that they have identified 27 mutations so far. Can anyone confirm?
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Post by sarahk on Aug 21, 2007 11:17:16 GMT -5
My husband made the same X-men joke, during all 3 movies....thinking it was funny EVERY time My mutant gene powers: projectile vomiting hyperglycemia woman (I can transfer into her faster than it takes WonderWoman to spin around) and, apparently the ability to devour a 10 ounce bag of banana runts in 2.5 days-using great control not to eat them all at once---let's see how quickly I go through betsy's cheese straws--my 5 boxes should be here soon
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