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    • #15211
      Amanda
      Keymaster

      When you or your loved one were diagnosed with ALS, did your doctor request that you participate in genetic testing? If so, did you participate in genetic counseling before and after hearing your results? Genetic testing is often a major part of medical research for ALS. Although familial ALS only accounts for 10 percent of ALS cases, there are still many unknowns. By providing genetic testing for research studies you may help researchers discover another mutation or a series of mutations associated with ALS. These types of discoveries may lead to a treatment or cure. If you would like to learn more about genetic testing check out the information provided by the ALS Association http://www.alsa.org/als-care/resources/publications-videos/factsheets/genetic-testing-for-als.html or ask your doctor.

      What are your thoughts on genetic testing and participating in research?

    • #15219
      Lisa Bonahoom
      Participant

      I was diagnosed a year before I was tested for a genetic cause, which they found.  I have the C9orf72 mutation.  One sister has ALS and dementia, and two other siblings are positive for the gene.  Two more have yet to test.  None of our kids have been tested yet. I volunteer for every trial that I qualify for.  I do it for my family.  I do know they are getting close to solving genetic ALS.  That is one good reason to test.  I need to do everything that I can to further research.  I have hope with one trial that I am in!  Lisa

    • #15226
      Lowell Stewart
      Participant

      My cousin died of ALS in 2013. I first had symptoms in early 2018 and was diagnosed with ALS on June 6, 2019. Through genetic testing I found out I have the C9orf72 mutation. When I spoke to the genetic counselor she thought i was unlikely to fall into the category of familial ALS. After the test results she consider me as fitting into the category of familial ALS. I’ve read that in rare instances the gene mutates spontaneously and is not inherited. My cousin is through the paternal line. My dad lived to 91 and never showed any signs of ALS. My cousin’s mom — my dad’s sister –died from Alzheimers.

      I’m left wondering whether I’ve inherited the mutation or I’m the rare instance of spontaneous mutation. AS a result I’m in favor of all PALS having genetic testing done. My cousin’s case was considered sporadic but since we don’t have genetic test results from him we can’t say for sure. As we can’t predict which of us will be diagnosed with ALS in the future that’s why I think it’s important for PALS to undergo genetic testing.

      I have three adult children and if any of them test positive for the C9orf72 mutation that will more or less confirm that I have familial ALS but whether they will be tested is for each of them their own choice.

      • #15395
        Amanda
        Keymaster

        @ Lowell, I agree with you and I fully support genetic testing for all pALS.  I think the more information they can gather, the more likely and the sooner we will have medical breakthroughs. Out of curiosity, if a pALS has a spontaneous C9 mutation, can that be passed down genetically to their children or are the chances as random as if the parent did not have the spontaneous mutation?  I understand the genetics behind a familial line of mutations (that’s what occurs in my family with the SOD1 mutation). Just wondering what your medical team shared with you.

        Thank you for sharing your information!

        Amanda

    • #15240
      Suzanne Akerman
      Participant

      I was diagnosed with ALS in February 2020. I am positive for the C9orf72 gene repeat sequences. My sister died in 2017 from ALS. We thought her ALS was sporadic. My brother and I thought we were lucky. My brother died in February 2019 with symptoms that fit ALS. I realized that after he died. He only had a local doctor who never diagnosed him beyond Parkinson’s, although he had no tremors, no rigidity, no stooping, no shuffling gait, increasing difficulty swallowing food, a long-time quiet voice, and tripped when walking with falling.

      Between the three of us we have five children. The daughter of my sister wants to be tested for a genetic ALS risk.

    • #15241
      Lisa Bonahoom
      Participant

      I had symptoms in early 2016 and was diagnosed with ALS in 2017.  We thought it was sporadic.  I did a study in 2018 that discovered a C9orf72 mutation.  In short order my sister was diagnosed, then two more siblings tested and were found to be positive as well.  I have two more that have not tested yet.  My first cousin on my mother’s side died of it in 2019.  My siblings and I have 8 children who have a 50% chance of having the gene.  C9orf72 is associated with dementia as well.  One sibling is showing signs of it.  The only silver lining is that they are closer than ever before to finding a treatment. I am in the Biogen trial and I have hope!  People with SOD1 have medical possibilities too.  To all of you with C9orf72, welcome to the family!  Lisa

    • #15265
      Amanda
      Keymaster

      Lisa,

      Thank you for sharing. My family has an extensive history of having the SOD1 mutation. I am volunteering for my third study. I have been involved in this last one for about 9is years. I know that this study is also looking at the C9 mutation as well.

      Thank you for participating in the research. Please thank your family as well. I do believe that things are looking promising and I hope that a treatment or cure is on the horizon. Without people like you and your family they would not be able to make progress.

       

      Amanda

    • #15396
      Amanda
      Keymaster

      Suzanne,

      Your family history sounds similar to mine. My grandfather had ALS, he was one of 9 and 7  had ALS. In the 70s and 80s it seems that the medical field thought that ALS was a male dominiate mutation issue. A couple of my great aunts were diagnosed with MS. It was only after my generation started volunteering for medical studies and their medical cases were reviewed, that now we have evidence and suspicion that they actually had ALS and not MS.  My grandfather had 3 children, my father and two Aunts. All have passed from ALS. Now my generation (just from my grandfather’s children) there are 5 of us. One passed from ALS last August, one has ALS currently and two, including myself, have tested positive for the SOD1 mutation. The fifth passed about 1o years ago from something unrelated. It’s my understanding that my grandfather’s siblings familial lines look very similar to his with most family member testing positive for the SOD1 mutation. In the early 2000’s my cousin’s doctor, who was affiliated with Washington University in St. Louis, caught wind of our extensive family history of ALS and asked us if we would participate in a study. He brought 2  teams to our family reunion and everyone gave DNA samples for genetic testing and did life style inventories. He wrote an article title, The Mutants, about our family that was in the medical journals. It’s my understanding that although we have a genetic mutation, apparently it is even more dominate that most families with a history of ALS. After reading some of the posts from other forum members, I don’t think my family is alone and possibly not as rare in the ALS world as we originally thought. If you or your family get involved in any research studies please share the information. I volunteer for as much as possible. If  your nieces want to join the forum or have questions, they are welcomed to reach out.

      Thank you for sharing your information.

      Amanda

      • This reply was modified 1 month, 2 weeks ago by Amanda.
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