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c.1210-12T 5T mutation
Hello, My brother recently had a positive sweat test (46 years old) and his genetic screen from Johns Hopkins came back with one mutation. It says " c.1210-12T[5] [Legacy: 5T]. A CFTR mutation with vairable functional effect and clinical presentation." Does anyone here have this mutation...- cmiller
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- Replies: 2
- Forum: CFTR Modulation and Gene Therapy Talk
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anyone with CF and Parkinson's / neuro issues?
My brother was diagnosed at NJH last month with adult CF. Besids the gi, bowels/pancreatic insufficiency which they are treating with Creon) he also has extreme neurologic issues. His circulation is messed up...heart rate drops upon standing or even raising his arm above his head...arm just... -
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new, pls help
I posted a few days ago and wanted to say THANK YOU to the huge outpouring of advice and kindness on this forum. National Jewish saw my brother today at the adult CF clinic. They fit him into their schedule and spent no less than 6 hours and he saw many, many doctors. It was amazing and humbling... -
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new, pls help
Hello all and thanks to everyone who has written a reply about my brother. We live near Denver,CO and I have learned that we are fortunate to have National Jewish, who has an adult CF clinic. But they do not have an emergency room and are not taking appointments/calls until Tues, is this is a 3... -
C
new, pls help
Hello all and thanks to everyone who has written a reply about my brother. We live near Denver,CO and I have learned that we are fortunate to have National Jewish, who has an adult CF clinic. But they do not have an emergency room and are not taking appointments/calls until Tues, is this is a 3... -
C
new, pls help
Hello, My brother is 46 and has been sick for years; diagnosed with CF via sweat test yesterday. He has lost so much weight, has circulation problems, abdominal painand just copious amounts of thick mucus. He has no insurance. He lost his job and also kicked out of National Guard 2 years ago bc... -
C
new, pls help
Hello, My brother is 46 and has been sick for years; diagnosed with CF via sweat test yesterday. He has lost so much weight, has circulation problems, abdominal painand just copious amounts of thick mucus. He has no insurance. He lost his job and also kicked out of National Guard 2 years ago bc...