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Old 05-12-2006, 06:49 PM   #1
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Join Date: Apr 2006
Posts: 3
hayleybug HB User
my mutations....

Ok...so I'm being sent to the Cleveland Clinic ( I live in Ohio) which is a couple hours from where I live because no local pulmonologist would see me because of my age (26) and possible diagnosis. I did get a copy of my test results and apparantly I have one F508del mutation and one R117H mutation minus the 5T variant. I've been doing some research on them but it's still halfway foreign to me. I hate the waiting game although I'm getting used to it. More info. to come!

 
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Old 05-17-2006, 02:50 PM   #2
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Join Date: May 2006
Location: michigan
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goodysnap HB User
Re: my mutations....

i have a daughter with some similar variants and we have undergone genetic counseling using our blood report for analysis. they were able to tell me what kind of symptoms she might have in the future. it was very informative. with the variants that she has 3t/5t varriants, she has frequent phenomonia, barky caugh, severe asthma, many sinus problems. they are not sure as to how things will develope in the future. they are able to tell you what symptoms those gene varaitions might give you but not if the disease will develope more in the future.

 
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Old 05-17-2006, 04:23 PM   #3
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dannysmom HB User
Re: my mutations....

Even though you may know what mutations you have the drs can not predict how CF will affect you. It is different for every individual. Two people with the exact same gene mutations can have very different symptoms. One may be "severe" while the other maybe "mild". They are looking into modifier genes as a possible explanation of how CF affects people differently.

 
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