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I was found to have the C9ORF72 gene. My paternal grandmother first showed signs of ALS and then was diagnosed. Then my aunt was diagnosed with ALS and several of her brothers and a sister were diagnosed with FTD. I also had two cousins with ALS and one cousin who had ALS/FTD. I have four siblings and three of the four tested negative. My older sister doesn’t want to know so she wasn’t tested. It was a very hard thing to accept when I found out, but I am doing much better now and actually living my life to the fullest.
We (my siblings and I) are currently in the ALLFTD and DIALS (this is changing to the Prevent) studies. The study site was very excited to have all 5 of us enroll.
The only thing I wish, is that there was a central location for people with C9ORF72 since there are two diseases that we could get. It would be nice to have all of the research and information in one location.