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  • Welcome to the Club

    Posted by Amanda on January 10, 2023 at 10:12 am

    On December 2nd, 2022 I was officially diagnosed with ALS. I became an official member of the club. I was more than happy to sit on the sideline and cheer and encourage all of my pALS friends and caregivers! I was more than willing and ready to continue volunteering for the pre-fALS research study to help find biomarkers and a possible treatment for SOD1 ALS. But, ah, NO! I was admitted into the club.

    On that day I was also told the FDA was going to be reviewing Tofersen as a possible treatment for SOD1 ALS. That if the intervention was provided early enough it could possibly stop the progression, and correct the genetic mutation while getting ongoing treatments. Hallelujah! Is this too good to be true?

    I came home with mixed emotions. I was obviously upset about the diagnosis, although it was somewhat expected at some point. I still thought it was a decade or so off. And then, a possible treatment. Mind-blowing and heartbreaking all at the same time. The closest thing I can compare it to is survivor’s guilt.
    And then, two days later a friend informs me that the FDA has delayed the review until April 25th!! Dang it, don’t they know every day counts?! My medical team decided to apply for early access to Tofersen on my behalf. The FDA has 30 days to review my case and grant or deny the request for access to an experimental treatment.

    Let me explain the mind blowing and Heartbreaking part. Tofersen is a treatment that is supposed to correct the SOD1 mutation. While this is great, About 90 to 95 percent of ALS cases are sporadic, which means they are not inherited. An estimated 5 to 10 percent of ALS is familial and caused by mutations in one of several genes. The SOD1 mutations have been found in 8%–23% of patients diagnosed with familial ALS (fALS) but also in 1%–4% of patients without an overt family history (denoted sporadic or simplex ALS, sALS). Of course, these stats will vary based on the date and resource. Regardless, although I am grateful that I am in this very small percentage of people that Tofersen could help; it leaves most pALS out. The good news is that the technology can be used to produce treatments for other pALS that fall into other categories both familial and sporadic.

    What are your thoughts on this gene therapy?
    Would you be willing to try an experimental treatment?

    Amanda replied 1 year, 5 months ago 4 Members · 6 Replies
  • 6 Replies
  • Mark B Nilsson

    January 10, 2023 at 2:23 pm

    I have the inherited ALS C9 gene and hoping they come out fast with the Crispr-Cas9 therapy. it might cure any gene caused disease. It would be nice to see it in action.

    • Amanda

      January 12, 2023 at 11:35 am

      Mark, that would be amazing!! I do believe they are getting closer and closer in regards to gene therapy.

    • Angelique Prins

      January 13, 2023 at 9:32 am

      Hi Amanda

      Iam so so sorry to hear that you joint the club. And hopefully you get approval of thr FDA for Tofersen!!

      In my family we have the FUS mutation. Me and my brother tested both positive for the gen and sitting in the same position. Hopefully stay on side for a long long time but the expectations are not so good if we look at the family history.
      I am praying for the crisper-cas method or the clinical trial ION363.The last trial is already going on in Miami for SOD1 right? (Don’t know what the name is for the sod1 trial) Are you joining that trial also? And did they see a change of biomarkers before it started? On the pre familiar studys we join right now we receive information about possible changes so we can start the ION363 as soon as possible. And then we are more then willing to join, otherwise we die definitely.


  • Alan Larrivee

    January 12, 2023 at 2:42 pm

    That pesky C9 is what my family passed on to me. The drugs are important to me, I would love nothing more than a cure. But as I got it, so I am passing it on. That makes me saddest. I truly hope that my children and grandchildren get a chance for a cure. That’s why I will fight. Donate. Push for more funding and research. Praise the efforts being made. And ask for more. My descendants didn’t ask for this genetic screwup.

  • Alan Larrivee

    January 12, 2023 at 4:44 pm

    I forgot to say that I am so sorry to welcome you to the club.
    I always fall back to Groucho Marx who said I wouldn’t want to be a member of any group that would have me as a member…

    Amanda, you will be in my prayers

    • Amanda

      January 13, 2023 at 9:37 am

      @Alan, thank you! I agree with Groucho!

      I think it is important that we all continue to advocate in our own way. I know that many people aren’t comfortable being the center of attention, or speaking loudly on any topic. There are many, many ways we can all contribute to awareness and raise funds.

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