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  • Amanda

    Member
    March 28, 2024 at 7:56 am in reply to: Toferson

    I received a text from one of my doctors telling me my NfL dropped from 17 to 2. That’s within the normal range for someone without ALS.

    Below is information explain the importance and potential of using NfL. The web address for the full article is https://www.als.net/news/neing neurofilament-light-chain/’#:~:text=Because%20NfL%20is%20a%20structural,biomarker%20in%20ALS%20clinical%20trials.

    “<strong style=”background-color: var(–bb-content-background-color); font-family: inherit; font-size: inherit; color: var(–bb-body-text-color);”>Neurofilament light chain (NfL) is a member of a family of proteins called neurofilaments that contribute to the structure of neurons in the brain and spinal cord. Research has shown that when neurons experience injury or damage, these proteins are shed and find their way into the <strong style=”background-color: var(–bb-content-background-color); font-family: inherit; font-size: inherit; color: var(–bb-body-text-color);”>cerebrospinal fluid (CSF) and bloodstream. While even healthy neurons shed a certain amount of NfL, elevated levels of the protein in blood or CSF are associated with several conditions that affect the central nervous system.

    This has made NfL attractive to researchers as a potential biomarker in several diseases – including amyotrophic lateral sclerosis (ALS). A biomarker is a kind of biological “fingerprint” – something measurable about a living thing that can provide doctors or scientists with information about that organism. Biomarkers have many potential functions in diseases, including:

    • Helping doctors diagnose a disease
    • Measuring the progression of a disease
    • Helping researchers see whether a drug has reached its intended target in the body
    • Providing evidence that a drug is changing the course of a disease

    Some common biomarkers associated with diseases include blood glucose levels for diabetes or LDL cholesterol for heart disease.

    A lack of reliable biomarkers for ALS is one of the biggest challenges in this disease. For example, ALS diagnosis is based on the clinical presentation of symptoms combined with tests like EMGs, while eliminating other possible diagnoses. There is also much interest in developing and using biomarkers as surrogate endpoints in clinical trials. To date, ALS trials have generally relied on measuring a person’s survival, which can lead to lengthy trials, or changes in motor function through the ASLFRS-r survey, which has been criticized for not being sensitive or completely objective. As a surrogate endpoint, a biomarker would be used to show that a drug is having a reasonably likely effect on a disease.

    The Potential of NfL in ALS

    NfL is often called a nonspecific biomarker because it can increase not only in ALS, but in many other conditions, including traumatic brain injuries, multiple sclerosis, and Alzheimer’s disease. Because of this, NfL has limited potential as a diagnostic biomarker for ALS. However, an observed increase in the level of blood NfL has been found to be a potential indicator of the onset of ALS symptoms for people with ALS-related genetic mutations. It is showing promise as a biomarker for risk of onset of the disease in that subpopulation.

    The level of NfL in the blood and CSF at diagnosis has been shown to correlate with the speed and severity of ALS progression, which has indicated that it may be a prognostic biomarker for ALS. While all people with ALS appear to have some degree of elevated NfL in earlier stages of the disease, those with higher NfL levels early on have been found to experience faster disease progression than those with lower NfL levels.

    NfL in Clinical Trials

    Currently, researchers are also focused on NfL’s potential as a biomarker of drug response in clinical trials. Because NfL is a structural component of neurons that is released when they are damaged, an experimental treatment that decreases levels of NfL in a clinical trial could indicate a possible slowing in neurodegeneration. This means that NfL has potential as a surrogate biomarker in ALS clinical trials.

    In one recent case, Qalsody, a treatment for SOD1-related genetic ALS, was granted accelerated approval based on results demonstrating lowered levels of blood NfL in trial participants. A second trial of the drug for asymptomatic carriers of fast progressing SOD1 mutations is currently ongoing. This trial is also following participants’ NfL levels, in this case to determine when to start dosing the drug. A rise in NfL levels in asymptomatic carriers could indicate that the onset of weakness is likely approaching in the next 6-12 months. By administering the drug at this early time, researchers hope to delay the disease onset.

  • Amanda

    Member
    March 25, 2024 at 7:53 am in reply to: Thoughts about Relyvrio

    I saw my doctor Thursday and he suggested I stopped taking Relyvrio because it did not demonstrate effectiveness. I had only been taking it for a little over a month.

  • Amanda

    Member
    March 25, 2024 at 7:36 am in reply to: Toferson

    Tofersen update… I was at the University of Miami last Wednesday, Thursday and Friday. I also had my last ALS clinic visit in January with the entire multi disciplinary team. Both appointments brought great news and more hope!

    My biggest area of concern is my breathing. In Sept/October I was having difficulting saying a sentence without having to stop and catch my breath. When I was walking I was out of breath long before I was physically tired. My forced vital capacity dropped from the 80s to low 30s in what seemed to be overnight. Perhaps it was over a week or two, but it was quick and scary! In October my FVC was mid 30s, in January 39/40ish. Last week it was 43!! I still cannot walk and talk at the same time without getting out of breath, but I can speak much better and my breathing is less challenging. Also, at my January visit when they did the neuro exam – ALL my scores for muscle strength improved. ALL of them! I’m still not back to my pre-ALS self, and they have told me that will not happen. I’ll never be 100%; and I’m ok with that. I know that being eligible for Tofersen gives me hope and I am grateful for the hope and the improvements. They also said I can expect to see more improvements as time goes on.

    Please understand that it is still obvious that I have ALS. I’ve fallen or tipped over a few times at work and needed help getting back on my feet. I’m slow and I don’t do as much public speaking as I use to do. However, I’m over a year into this journey and I’m still working, living independently, and enjoying most things. That’s a win in my book. That’s a win in OUR book!

    I’ve had conversations with one of the doctors about my breathing. I was declining so quickly, over 50 points in less than a month. There isn’t enough room to have another drop like that. I’m convinced, and so is my doctor, that had I not started Tofersen in July, I would not have made it past Sept/October. I don’t say that to be morbid or negative; just the opposite. I’m a realist and I was preparing for what could happen. (paperwork, etc) I’m the first case in my family that has had ALS impact their diaphragm this early on. (I’m the 15th or 16th person in my family to have ALS…can’t keep up anymore). Typically, this is the last thing to happen. Let me also add that I am single and have no children. For anyone in my position, I’m sure you can understand the added stress of being in my shoes and the great need to be prepared. Every situation has it’s advantages and disadvantages. I just enjoy the advantages and do my best to prepare for any possibilities in my future.

    I focus and try very hard to maintain a positive attitude. I focus on what I can do, and enjoy the memories of what I was lucky enough to do. I will share that when I was diagnosed I did ask for an anti-anxiety med. My doctor prescribed a med that works for both anxiety and depression. I think that it is only natural to experience a wide range of emotions – grief especially when you are facing a life altering diagnosis such as ALS. I’ve never been one to reach for prescription therapy, but I work in the mental health field and I know that when it’s needed, it is a game changer for many. So, I am trying to practice what I preach. This isn’t information I share with people outside of our circle. Mainly because it doesn’t come up. I also use a bipap machine nightly and often during the day when I get home from work. Dr. Granit said that was the best thing I could do to help with my breathing! I have no issues using it because I feel so much better when I do. I get a good night’s sleep – and I think it helps my body to recover.

    I had an EMG on Friday and it showed where some nerves were spreading out to compensate for damaged nerves. That was pretty cool to hear. It didn’t seem to show any new damage since last fall from what I understood.

    So, overall Tofersen is doing wonders for me. I am so grateful for all of you, the doctors, researchers and volunteers for the clinical trials. We all know that rare diseases do not get the same amount of attention and funding as other diseases. I am one of the few, the fortunate pALS that has the SOD1 mutation (I never thought I’d say that) that makes me a candidate for Tofersen. I don’t take this for granted for a second.

    Please know that I am an open book and will happily talk to anyone on our forums or in our ALS Community about Tofersen and my journey. I will continue to advocate and support our community. Know that you can reach out to me with any questions or concerns and I will respond. If you don’t hear from me it is an oversight and just send me a private message.

    There is research currently being conducted to find similar treatments for other mutations. I know that the C9orf mutation is a focus for much of this research. The technology is amazing, life altering and brings hope to our community. I believe that we are the generation that will continue to see treatments discovered that will make ALS a livable disease; hopefully a curable disease.

    Cheers!

    Amanda Sifford

  • Amanda

    Member
    March 11, 2024 at 12:55 pm in reply to: More Treatments vs. Improved Quality of Life?

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    Finding better medications & treatments for ALS is the priority to me!! ALS was identified in 1869 by French neurologist Jean-Martin Charcot. In 1939 the disease gained recognition when t ended the career of one of baseball’s most beloved players, Lou Gehrig. So, in 154 years very little progress has been made, at least until recently. And the latest breakthroughs only help a small number of people in the ALS population.

    I’m on tofersen, a treatment for SOD1 ALS. I’m one of the lucky 300+ people in the US that can benefit from this treatment. It shouldn’t be this way! There should be more treatments (not just meds that extend life by months) that make a real difference for more pALS. We need the research to target cures and effective life extending (quality life) treatments. Research is where I strongly believe the money should go.

    I’ll get off my soap box now 🙂

    Amanda

  • Amanda

    Member
    March 4, 2024 at 9:31 am in reply to: Nose Running

    Joh-e-mosman,

    The same thing is happening to me!! It has been non stop for over a year now. I kept thinking it was allergies but it never gets better. I don’t know where all this mucus comes from! I read somewhere that ALS causes more mucus, but I can’t recall the source. There is so much misinformation and unknowns when it comes to ALS, it is hard to find answers to some of these “little questions.” I’m curious to see what others have to say.

    Amanda

  • Amanda

    Member
    March 1, 2024 at 9:24 am in reply to: Radicava and side effects

    All of this information and sharing of experiences is so informative. Thank you for such a great discussion post!

    My insurance will not approve Relyvrio until, and I quote, “other treatments have proven unsuccessful..” It’s hard not to laugh at the wording. My first thought was, “What evidence do they want?” We will just leave that one unasked/answered. The company sent me the first months supply – and now that my insurance has turned it down numerous times, I have to fill out a grant application in order to continue the medication.

    I don’t complain about it. My insurance is covering Tofersen (which is making a huge difference), Riluzole, <b data-test=”prescription-list-2-card-0-title” style=”font-family: inherit; font-size: inherit; color: var(–bb-body-text-color);”>Baclofen for cramps.

    My doctor did think that Radicava is beneficial to me.

    I was interested in the average cost of ALS meds and found this on the web. I know this may vary from site to site, and insurance will vary with copays and prices.

    The most common drugs used to treat ALS are riluzole (Rilutek) and edaravone (Radicava):

    • Riluzole is the only FDA-approved medication for ALS. It is typically priced at around $1600 for a monthly supply.
    • Edaravone is not FDA-approved for this use, but it is commonly used off-label. Edaravone typically costs around $145,000 per year.
    • Nusinersen is a newer medication that was approved by the FDA in 2016. It is priced at around $125,000 for an injection.
    • Nuedexta is a medication that is approved to treat ALS-related swallowing problems. It is typically priced at around $700 for a 30-day supply

    Biogen has set a price for its recently approved ALS therapy Qalsody (tofersen) at <b style=”background-color: var(–bb-content-background-color); font-family: inherit; font-size: inherit; color: var(–bb-body-text-color);”>$14,230 per dose. Given that 14 doses are required in the first year of treatment, that comes out to just under $200K for the first year alone, Endpoints News reported.May 2, 2023.

    With all this – there is also the income lost and additional expenses to consider. Wow, maybe I was better off in the dark 🙂

    Amanda

  • Amanda

    Member
    February 16, 2024 at 9:06 am in reply to: What’s Your Song?

    I’m a music lover! I use it to motivate me, calm me, work through challenging situations, inspire me, and more! Right now I’m really loving Saltwater Gospel by the Eli Young Band and Jimmy Buffet. My father got me listening to JB when I was in elementary school, and his music brings back wonderful memories.

    https://youtu.be/7_yOrDBSbBY?si=iuNtNiC9Ic26ZW4v

  • Amanda

    Member
    February 14, 2024 at 8:00 am in reply to: FUS Ionis trial

    Hi Angelique,

    Tofersen, now called QALody is for people with a SOD1 mutation. It was conditionally approved April 24, 2023 by the FDA in the US. There are definitely more than “feel good” results. There are documented datum that show that pALS have a reduction in NFLC. Qalsody works by <b style=”font-family: inherit; font-size: inherit; color: var(–bb-body-text-color);”>reducing the amount of a toxic protein (SOD1 protein) that causes damage to motor neurons and the symptoms of ALS . I have been receiving QALSody since July 2023. My emgs, muscle strength tests, and blood work (that is how the show NFLC reduction) all show differences. I am stronger, and am not declining. I have heard of others with rapid progression ALS seeing a slowing of the disease.

    Amanda

  • Amanda

    Member
    February 5, 2024 at 7:26 am in reply to: Tofersen medication

    I started July 12th, and I have had some gains!

    Amanda

  • Amanda

    Member
    March 27, 2024 at 7:47 am in reply to: What new habits or skills are you working on?

    Dagmar,

    I think you are reading my mind! The past couple of months I’ve noticed it I don’t stand up at least every 30 minutes or slow my legs are extremely stiff and it takes me a few minutes to get moving. I’m grateful I can still walk, but I know I need to focus on keeping the skills I have. One way I can do that is by setting an alarm every 30 minutes to remind me to get up and stretch.

  • Amanda

    Member
    March 25, 2024 at 7:51 am in reply to: Thoughts about Relyvrio

    Janet-Neckyfarow,

    I get your logic and I agree! I often struggle with the idea of extending life for a couple of month with a poor quality of life. Each person’s situation is unique and I understand we have different needs.

    My father was the same way and he declined any treatments. He actually declined getting an official diagnosis (you would have to know my dad to get the whole picture). He helped take care of my grandfather, two aunts, and many other family members who passed from ALS. I understood and respected his decisions.

    For me, my focus is on my quality of life and my mental health. Each person should make their decisions based on their own beliefs and goals. I appreciate you openly sharing your thoughts. Keep being you and sharing!! It is enlightening!

    Amanda

  • Amanda

    Member
    March 25, 2024 at 7:22 am in reply to: Toferson

    Hi Tina,

    I live in Florida and I get my treatments at the University of Miami ALS clinic. I live in the Fort Myers area. I just found out that someone that lives in my area also has the same mutation and has started his treatments here in Fort Myers!! What a small world.

    The treatments should be available anywhere in the US. If you need names or phone numbers just let me know. Biogen has patient advocates that will help get you set up and help with the insurance approval.

  • Amanda

    Member
    March 5, 2024 at 7:31 am in reply to: What Achievements do you celebrate?

    That is Awesome Eric!! Great work.

  • Amanda

    Member
    March 5, 2024 at 7:29 am in reply to: Nose Running

    I agree Dagmar. This is a little thing in the grand scheme of life. It is interesting to learn that I’m not the only one.

  • Amanda

    Member
    February 21, 2024 at 8:17 am in reply to: Do you know what Rare Disease Day is?

    Dagmar,

    I was noticing the same thing, and having some of the same questions. I know ALS is rare, and each case is rare too. Between sporadic ALS, all the different genetic mutations and variants of each, Bulbar onset, limb onset — Are we so rare that our community does not see the value in Rare Disease Day?

    Community members – what do you think?

    Newer members, did you know that Rare Disease Day existed before this post?

  • Amanda

    Member
    February 20, 2024 at 8:33 am in reply to: FUS Ionis trial

    Could be, and I’m sure they will let us know. I guess it is a good thing that there are numerous clinical trials even if it confusing 🙂

  • Amanda

    Member
    February 14, 2024 at 8:11 am in reply to: Toferson

    Les-Wood,

    Thank you for your update, directness and honesty. I have heard there are some situations where a person’s body builds up a resistance to the medication and it no longer has the same impact. I’ve also heard an instance where someone had meningitis and had to stop for 3 months, and then start back up with half a dose to see how their body responded. As with everything, there are major risks. It is great to hear from someone with extended experience on Tofersen. Sharing your information is very helpful, so please continue to do so.

    My doctors have always stressed it is a treatment, not a cure. They also stated that people will respond differently based on the SOD1 variant (rapid or slow) and how much damage has already occured. I know here in the US, it is still in clinical trials and was conditionally approved by the FDA. Hopefully they will continue to make strides in the area research for all kinds of ALS.

    Les, thank you again for sharing. You really are a wonderful source of information.

    Warmly,

    Amanda

  • Amanda

    Member
    February 7, 2024 at 12:38 pm in reply to: Tofersen medication

    Hello Kico,

    I used a translator to write this – its from the ALS Association explaining Tofersen.

    <pre data-placeholder=”Translation” data-ved=”2ahUKEwiilfDO75mEAxX5RzABHW0ABEcQ3ewLegQICRAU”>asociada con una mutación en el gen de la superóxido dismutasa 1 (SOD1).

    ¿Qué es una mutación SOD1?
    Las mutaciones en el gen SOD1 son la segunda causa más común de ELA familiar y se encuentran en aproximadamente el 10-20 % de los casos, así como en el 1-2 % de los casos de ELA esporádica. El gen SOD1 contiene las instrucciones que las células necesitan para producir una proteína que también se llama SOD1. Las proteínas SOD1 saludables ayudan a descomponer los subproductos tóxicos producidos durante los procesos celulares normales. Estos subproductos deben descomponerse periódicamente para que no dañen las células.

    Se cree que las mutaciones en el gen SOD1 hacen que la proteína se pliegue mal y se acumule (agregue) dentro de las neuronas motoras y los astrocitos, los tipos de células implicadas en el desarrollo y la progresión de la ELA. Estos cúmulos (agregados) pueden interferir con las funciones celulares sanas o pueden causar que otras proteínas necesarias se pleguen mal y pierdan su función, dañando el sistema nervioso y provocando el desarrollo de ELA.

    ¿Cómo funciona el tofersen?
    Tofersen es un oligonucleótido antisentido (ASO), que es una pequeña cadena de letras de ADN (llamadas bases o nucleótidos) que están diseñadas para unirse a moléculas específicas de ARN. Tofersen se desarrolló para apuntar específicamente al ARN producido a partir de genes SOD1 mutados para detener la producción de proteínas SOD1 tóxicas.

  • Amanda

    Member
    February 7, 2024 at 12:34 pm in reply to: Tofersen medication

    Sure, I posted and update last week. Check it out on the Living with ALS forum from February 2, 2024 at 7:09 am.

  • Amanda

    Member
    January 25, 2024 at 7:29 am in reply to: COVID-19 and correlation with ALS symptoms

    Hi Shandy,

    Everything you are feeling and experiencing is normal for someone in our shoes. It sounds like you have a great attitude, and that will help you maintain positive mental health. Having ALS or any rare or chronic disease is stressful, and that is a huge understatement. I encourage anyone with ALS to talk to a counselor or mental health professional. It does not have to be an ongoing practice, but for some just talking to a professional who is not connected personally to you, is helpful. It gives a person a chance to let out things they otherwise keep in, ask the impossible to answer questions, cry, grieve and accept what is happening in our lives. You can talk to someone face to face or online these days. It can be weekly, monthly or occasionally – whatever works best for that person!

    Now to tackle the COVID-ALS correlation – honestly, that’s too complicated to address completely and adequately here. I will continue to ask that each of our members keep in mind that each case of ALS is different and unique. We do not have all the information on this topic and much of the research out there on this topic is suspect. It is often written about 1 case and lacks significant data, a problem for all rare diseases and research data. We also no that there are numerous hypothesis to what causes ALS, and likely there are numerous kinds of ALS with different causes. Continue to do your own research and reading. Share your ideas here of course!! Encourage each other to research! Verify that the research and the writer are credible. What are their credentials? Does the science make sense?

    I could continue with a long list regarding research, but most of you have heard this before 🙂

  • Amanda

    Member
    January 18, 2024 at 10:26 am in reply to: Stem Cell therapy for ALS

    Thanks for the information Timothy-d-mastin! I’ll look into your suggestions. I do agree that if we all unite and speak up, we are more likely to see results. I’m one of the lucky ones on QALSody (Tofersen).

    Amanda

  • Amanda

    Member
    January 10, 2024 at 7:23 am in reply to: What is your word for 2024?

    These words, and thoughts are making me motivated!!

  • Amanda

    Member
    January 10, 2024 at 7:23 am in reply to: What is your word for 2024?

    I love it!!

  • Thank you Roman!! What do you think of the presentations?

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