• bill alkofer became a registered member 1 year, 11 months ago

    • Hello Bill, and welcome to the ALS forum. I’m Amanda, one of the co-moderators of the forum. We are happy you have joined our online community. You will find that the ALS forum is made up of people with different associations with ALS. My family has an extensive history of ALS and we know that we have a genetic mutation in the SOD1 gene. I lost my father, grandfather, both aunts, and a several cousins to ALS. My family has been volunteering for medical research for over a decade, and I believe we are getting closer to finding away to stop the progression of ALS.
      Other members are pALS, caregivers and medical professionals. Please review the ongoing discussions and join in at anytime. You are also welcomed to post discussion topics, ask questions and respond to other members. The more we share, the better we all are in this community.
      Please feel free to contact myself or Dagmar if you need any kind of assistance. Again, welcome to the forum!
      Amanda

    • How did you determine that the genetic mutation was on that specific gene? My father had Multiple System Atrophy. I have an ALS variant called Brachial Amyotrophic Diplegia. Both of these motor neuron diseases show a mutation in the C9orf72 gene. When I was first diagnosed my neurologist said that a genetic test showed no connection. I’m thinking that there is more than one kind of genetic test. I tried to decipher an abstract from JAMA Neurology, but that was way beyond my level of comprehension. I’m wondering is there is a geneticist who can dumb it down for me. I’m a patient at both Cedars-Sinai and UC Irvine ALS.

      • Bill,
        My family has had numerous members who have had ALS (15) that I know of starting with my grandfather’s generation. Because of that one doctor out of the University of Washington in St. Louis did a study on our family which most of us had genetic testing. Those who had the mutation all had a mutation on the SOD1 gene. Then, a few years later myself and 3 cousins voluntered for the Pre-fALS study and I go to the University of Miami a couple of times a year for testing. When this study began they also did genetic testing. They confirmed that the three of us did have the SOD1 mutation.

        Have you reached out to any research studies for ALS? They are great in some ways, but they some of the tests they run are the same as they do to determine an ALS diagnoses. They are not always comfortable as you probably know.

    • Hello Bill,

      Welcome to the forum! I am one of the forum moderators, as well as a person who is also living with ALS: I was diagnosed in 2010.

      If there is anything specific you would like to see discussed on the forum, feel free to post a new topic in any of our forums or jump in on an existing topic. You can also search for past topics or discussions by typing a keyword in the forum’s search bar. If you have any questions, concerns, or even suggestions, just let me or Amanda (who shares co-moderator duties with me) know, and we will do our best to help you.

      Again, thank you for joining our forum – – We look forward to your comments and I look forward to chatting with you! Dagmar

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