• Posted by Amanda on September 30, 2019 at 9:52 pm

    In the summer of 1980 my grandfather died from ALS, about a year after his diagnoses. I was 13 and had spent a good part of his last four summers with him. The first two summers I was there helping take care of my grandmother who had breast cancer. After she past, my grandfather was diagnosed with ALS. I believe the symptoms started much earlier he was just so consumed with taking care of my grandmother, he brushed signs off to stress and exhaustion.  I think the formal diagnoses took about a year, and he was gone within two years. At that time, I recall my family had very little information about ALS compared to what we know today. To be honest, our family didn’t think much of ALS other than it was a dreadful disease which the doctors really didn’t offer much support or information about. Over the years we found out that my grandfather had many siblings that had ALS. At that time, his sisters were (we suspect) misdiagnosed with MS. Still, it wasn’t until 2004 when the family started to get the full picture of how invasive and dominate ALS would be in family. My cousin, Jessica was diagnosed at age 40. She lived over a decade and we lost her about a month ago. At this point, myself and many cousins decided to volunteer for genetic testing. Before she passed, my two aunts and my father passed from ALS. Prior to my aunts and father being diagnoses, her doctor, Glenn Lopate, out of Washington University in St. Louis, took an interest in our family. A large, extended family reunion was organized, and my father and uncle brought two large RVs. Each RV was set up with a medical team that was collecting samples for genetic testing, and completed medical history and lifestyle surveys,  in order to find out just how many family members had the genetic mutation and what commonalities they shared.  This all resulted in an article that was published about my  family which outlined (starting with my grandfather’s generation) everyone  who had a genetic mutation (SOD1), and anyone who was diagnosed or deceased from ALS. To see the full picture was mind-blowing in graphical form was alarming. With our family being spread out all over the country there were so many ALS cases that my immediate family did not know about.  I think the title of that study is titled “SOD1 Mutants” or something. I have a copy of it some where if anyone is interested. From that study, the family was invited to participate in other studies. We were the rarest of the rare!

    The longitudinal study that I have been participating in over the past several years is a little different. The former study was more of an information gathering study; and the Pre fALS study out of the University of Miami is targeting a cure.

    I am passionate about volunteering for studies. I understand that it isn’t the right decision for everyone, and just knowing you have a mutation related to ALS is overwhelming.

    What are your thoughts on finding out if you have a genetic mutation that is linked with an illness. Would knowing change you? Would you live life differently? If you have ALS and so have other relatives, did you encourage you loved ones to get tested for the genetic mutation?

    Amanda replied 4 years, 2 months ago 1 Member · 0 Replies
  • 0 Replies
  • geison

    September 14, 2021 at 11:35 am

    Hello Amanda,

    My name is Geison, my family is affected by ALS familial type with genetic error in SOD1. I received the diagnosis last year, I follow your posts, congratulations for the fight on our behalf, I would like to talk to you. I’ll leave my e-mail [email protected]

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