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    • #20886

      Good Morning (Florida Time) Community,

      Sorry, I was MIA for a few days. I had my pre-fALS Clinic visit last week. I got through another EMG, nerve testing, cognitive testing and, yes, I made it through the lumbar puncture without passing out! The lidocaine shots (at least 3, but I think 4) hurt more than the actual procedure. Those felt like bee stings. The lumbar puncture felt weird — just odd sensations. They took 4 tubes of fluid. Next time I’m going to have them record it with my phone. (I know, I’m weird but I want to know what it looks like).

      So, all in all, things haven’t changed. Still no official diagnoses and I’m grateful for that small fact. After my last visit I thought things were starting to go downhill. The doctor was very concerned after all the testing. There continue to be abnormalities in the EMG and other test that consistent with the muscles I experience cramping and fasciculations in routinely. That’s what concerns the medical team. I don’t have any wasting or weakness luckily. However, there doesn’t seem to be progression. These symptoms come and go – sometimes severe, and then other times I can go a month without a twitch. This is what they can’t explain and seems to be common in my family, a very slow and odd progression of symptoms. There are also issues in the mid section with severe cramping (abdomen and digestion issues). I went through a couple years of testing for the doctors (not ALS) to just say “inconclusive or possible IBS.” The way I understand these symptoms is they are consistent with the specific SOD1 mutation that I have. They really don’t seem to know a great deal about this, but it sounds like they are trying to determine a pattern or something. I know other family members with ALS have had the same issues.

      I now will have to go to the ALS Clinic every 6 months for testing. My understanding is they will continue to conduct all the same test, add new tests as needed, and continue to take blood, urine, and spinal fluid samples.

      I did ask about the Toferson clinical trials. As I suspected, the results weren’t as bad as they appeared in the articles. This is my take after asking a lot of questions. They need to continue to see if different dosages, and time of interventions will make a significant difference. I think that for people with a mutated gene or ALS associated with a mutation, this is good news. Of course a treatment or cure can’t come soon enough for anyone in our community!! The research and trials for Toferson continue and I hope they bring more optimistic and definitive results.

      I thought about all of you while I was there. With each needle, electrical current, cognitive questions — during every step, I thought of our online community. It is very strange to be that I feel connected to so many of you just through a social networking ap. I think it is because we ARE connected. I started volunteering for medical research 12 years ago because my family had a history of ALS. At that time I did not know I a mutated gene. Now, I think of you all as my online family, and that motivates me to continue. When I read how you are scared, feeling isolated, trying to accept ALS, don’t want to be a burden, advocating for others, raising awareness…YOU are my motivation!! I know that the likelihood of me getting ALS at some point is 99% – my doctors says that realistically, it’s just a matter of time. I’m praying that time is a very very long time so that I can continue to volunteer. It’s the only way I have to contribute to finding a cure or treatment.

      Is anyone else in a pre-fALS study? If so, what have your experiences been like?

      Peace, Love and Light to you all,

    • #20893

      Good luck Amanda. Hopefully the Toferson can develop into something meaningful. Maybe for preALS with the mutation. I don’t have SOD1 but hope it can develop for those who do. Hopefully not just an expensive very incremental improvement. I just see too many of my online pALS die each year.
      In the meantime, our weather getting nice here anyway!

      • #20924

        Bill I agree. The treatments need to be reasonable. I wonder how the pharmaceutical companies will act, and what they will charge when a treatment is found to be successful. I also wonder what our insurance companies in the U.S. will do and what they will cover. At times, I get frustrated that there are not many medications to help pALS. It seems absurd to me that this was identified so long ago and there is still so much to learn. Then, I have to remove myself and my family from my thought process. It is such a personal and big issue for me, that is a difficult thing to do. I know that ALS is not one specific disease that one cure will fix – like a vaccine. With so many variables find a blanket cure is likely out of the question. So, when I look at what they have accomplished, I can see the progress, although I wish it were so much more.

        This is a timeline about ALS and ALS research I found from several different websites…
        Although descriptions of ALS-like symptoms can be found in medical literature as early as 1824, it wasn’t until 1869 that the condition was identified as a specific disease by the ‘father of modern neurology’, Jean-Martin Charcot.
        Charcot went on to diagnose and identify more neurological diseases using the anatomo-clinical method – a diagnostic technique he developed that combined longitudinal observations taken over a patient’s life with post-mortem anatomical analysis of the brain and spinal cord.
        1939: ALS gains mainstream attention
        ALS remained relatively unknown until the late 1930s when the famed ‘iron man of baseball,’ Lou Gehrig, was diagnosed with the condition in 1939.
        His high-profile battle with the condition helped to raise public awareness of the disease and in the US to this day ALS is still commonly known as Lou Gehrig’s disease.
        The sharp decline of his health is now understood to be a typical trend for those diagnosed with ALS. Statistics show that only half of those with ALS live at least three years after diagnosis, 25% survive at least five years and up to 10% live ten years or more beyond their diagnosis.
        1990s: first ALS gene and drug discovered
        While ALS is mainly a sporadic disease of unknown cause, there are records that pre-date Charcot’s recorded discovery of hereditary ALS symptoms.
        In 1880, Sir William Osler noticed that the Farr family of Vermont had a dominantly inherited form of ALS. Just over a century later, in 1993, the first gene to be associated with familial ALS was identified – the SOD1 gene. Since then, at least ten additional genes have been linked to familial ALS/motor neurone disease.
        In 1994, the discovery of the SOD1 gene led to the engineering of the first animal model for ALS, the transgenic SOD1 mouse. These were instrumental for developing the scientific understanding of the disease pathogenesis and for testing treatments.
        Despite decades of randomised controlled trials to find a therapy to cure or slow the progression of ALS it wasn’t until 1995 that the first treatment for the disease was approved by the US FDA – Sanofi’s Riluzole. Riluzole works by blocking the release of glutamate, too much of which is believed to injure nerve cells.
        While this approval was a welcome development, it was a very limited step forward. Riluzole brings only a very modest benefit for ALS patients, prolonging survival rate between two and three months.
        2000s: more research and another important ALS gene identified
        During the 2000s, research into the possible causes of ALS gained traction.
        This was a monumental task as for around 90% of cases, where no familial history of the disease is present, the cause is unknown.
        Research into environmental factors became a core focus for scientists. Results from these studies suggested that certain vocations, sports, traumatic brain injury and smoking may be linked to ALS.
        In a 2017 study by the US Centers for Disease Control and Prevention, researchers analysing US deaths from 1985 to 2011 identified a correlation between ALS deaths and white-collar occupations. People in management, financial, architectural, computing, legal and education jobs were found to be at higher risk.
        Moreover, ALS has become associated with veterans in the US and it is thought that combat veterans are twice as likely to develop the disease in comparison to those who have not served in the military.
        Football players have also been identified as being possibly at risk for ALS. In a retrospective cohort study in the year 2000 of 24,000 Italian football players who played between 1960 and 1996 – there were 375 deaths in this group, including eight from ALS. Based on this information and the incidence of ALS, it was determined that the players were 11 times more likely to die from ALS than the general Italian population.
        Although this study was criticised for biases, it prompted further research in Italian football players.
        In 2006, the protein TDP-43 was identified as a major component of the inclusion bodies seen in both ALS and frontotemporal dementia (FTD), which provided confirmation that ALS and FTD are part of a common disease spectrum. This led to the discovery in 2008 that mutations in TARDBP, the gene that codes for TDP-43, are a cause of familial ALS.
        According to a 2014 publication, 95% of ALS cases show TDP-43 aggregation, causing a loss of functional protein in the nucleus.
        Another important discovery was made in 2011 when scientists found that a defect in the C9ORF72 gene is present in individuals with ALS as well as in those with FTD.
        2015: second drug approved for ALS
        The next (and only other) drug to be approved for ALS is edaravone, which was approved in Japan and South Korea in 2015. In the US, the drug received Orphan Drug designation from the US Food and Drug Administration (FDA) by 2016, followed by the EU’s EMA. In 2017, the FDA approved Radicava (edaravone) IV.
        Edaravone is a synthetic free radical scavenger and works by decreasing oxidative stress, another potential cause of nerve cell death in ALS.
        Unfortunately, like Riluzol, the drug does not stop or cure the disease but modestly slows its progression in a small group of patients with early-stage ALS.
        Treatment with Radicava – an intravenous formulation of edaravone – is expensive and requires daily hour-long IV infusions for ten days in a two-week period. This cycle must then be repeated after a two-week break.
        2020: Phase III trials begin
        In 2020, Mitsubishi Tanabe announced the initiation of a Phase III clinical trial investigating an oral suspension formulation of edaravone (MT-1186) in ALS.
        Because of the costly and burdensome administration of Radicava, an oral version of edaravone could be of huge benefit.
        There are currently over a dozen experimental compounds being explored for ALS including Biogen and Ionis Pharmaceuticals’ tofersen.

    • #20912
      Judy Weger

      I live in Pinecrest fl was diagnosed with familial 9C been taking tudca and slowed it below my right knee it is a battle every day

      • #20925

        Hi Judy. Have you found an ALS Clinic that you feel comfortable with nearby?

        • #22120
          Judy Weger

          in miami   university of miami


        • #22125

          Judy, that’s where I go. Do you see Dr. B?

    • #20927

      <p style=”text-align: left;”>What does fALS stand for? Then I might understand the rest…</p>

    • #20929

      Familial ALS. PreFALS has people with family history of ALS but are not diagnosed yet themselves. I was in it but since they couldn’t find which gene has caused my family’s MNDs , I was dropped and my kids not included. Good study.

    • #22128
      Michael Cosgray


      I have not been able to enroll in any pfals trials to date, thanks to my asymptomatic condition. It’s all good. I remain hopeful that a trial will come along before my battle commences that gives me more time to enjoy a high quality lifestyle. C9orf72 gene mutation research is just starting to get 🔥.

      I haven not made an appointment with the clinic to get poked and prodded yet. It’s golf season. News of my genetic positive result is still weeks old.  I made a promise to those that are close to me to see a Neurologist before my birthday in September. I admit, I am not looking forward to it.

      Incidentally, when the Mayo clinic called this week to reject me, they mentioned a FTD study that might put me in front of one sooner.

      You paint a pretty clear portrait of what my first visit will entail. Thanks for spelling it out.


      • #22136

        Michael, (or anyone)
        If you ever want to talk about the study just let me know! I’m always open to talking and sharing any information I have. And of course, I’m always eager to learn about what others are learning about too. Team work makes the dream work! I’m just praying that the dreams come true sooner than later.

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