Amanda
Forum Replies Created
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Although I had a very positive experience at my last ALS Clinic visit, they still are recommending that I get a feeding tube soon, next week. It is not because I can’t swallow or anything of that nature. I have no bulbar symptoms. My diaphragm is the most impacted by ALS. My FVC dropped from 80ish (normal) in January to between 30 and 40 by May. It probably dropped that low y the end of February I just didn’t go to the Clinic until May. It really did feel like it dropped significantly in just a week or so. If it drops below 20, I would not be eligible to go under anesthesia at all and the feeding tube may not be an option if and when I need it. They are also concerned that I could take another big drop quickly. The doctors, and I am hoping that QALSody/Toffersen also slows the diaphragm weakness progression and I make some improvements! However, there is very little, if any, information on this from the clinical trials. This being Rare is getting old quickly! 🙂
I have to admit that this step has hit me hard. For my family, not eating was the last and final step in the ALS journey. I associate this with end of life. Intellectually I understand and know that this is not always the case. Each ALS case is different and has to be treated according to each individual’s needs. I know that for many with Bulbar onset, this is just a step and the quality of life is still very good.
It took me some time to wrap my head around this step. I do believe that it is in my best interest to have the procedure. I am still living a good quality life and want to maintain that as long as possible. I cried a little out of fear. However, after a few conversations and time to let all the information sink in, I’m feel like I’m back to my happy and hopeful self.
Has anyone else made decisions like this? What was your process like? What information weighed in the most for you?
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In the United States chelation therapy is only FDA-approved to treat metal poisoning. There just isn’t enough evidence to support its use for any other condition. And, as research shows, it can be dangerous if it’s used for an unapproved reason. There are theories that toxins may cause numerous diseases such as Autism Spectrum Disorder, Alzheimer’s, and on and on. As of now, there is no scientific evidence to support these suspicions. If you are going to use chelation therapy be careful. There can be serious side effects and it can deplete nutrients in your body. Talk to your doctor and make sure you are using it the way it was intended.
We all know that there is still a lot of unknowns about ALS. We also know that some people are willing to take risks with alternative therapies and others are not. How each of us choose to address our condition and symptoms is a very personal decision. There are not absolutes in my opinion. There are no rights or wrongs. Some want to stay alive as long as possible, while others focus more on pure quality of life. And of course there are pALS that focus on balancing both.
Personally, I rely heavily on medical research and my medical team who specializes in ALS, and genetic ALS research. I do believe that eating and living a healthy lifestyle can be a big influence on how we feel and possibly how we progress.
Before trying anything, do your research, ask questions (This conversation is great!), talk to your doctors and loved ones, and be sure not to be pulled in by fraudulent claims and scams. There are evil people out there that will take advantage of people’s fear and desires.
Amanda
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Doug,
Your post is well thought out! My personal belief as I’ve stated before, is that there are different kinds/causes of ALS. There have been a few articles over the years discussing possible neurotoxins; but not enough research. Your post is thought provoking and I am looking forward to other’s response. Also, has anyone else asked their medical professionals? I will ask at my next appointment.
Amanda
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I had my 5th dosing of QALSody this week, and a neuro exam right before the treatment. I was told I had ALS on Dec 2nd through research, had the first official diagnosis and ALS clinic visit May 19th, 2023 and this was my 5th dozing. My diaphragm is the initial site of weakness. (Respiratory onset sucks! All ALS sucks!!) Only, we didn’t relate this to ALS until this past few years. It’s been part of the discussion but it’s much harder to determine, or at least it seemed that way to me. I’ve been getting short of breath for years, and years. Between December and July my Forced vital capacity dropped from 80% to 35/40%. My legs got very heavy and I was exhausted all the time. I came home from work and took a nap every single day — a very long nap.
This week all of the muscle strength test came back the same or better than the previous results from July. Yes, you read that correctly, Some better!!!!! I’m still walking on clouds over this news. My FVC stayed the same!! No decline…. (I was really hoping for improvement but I didn’t feel any difference so I got the results I was anticipating.) The doctor was excited and I could see him smiling as he performed each test. Then when we were able to discuss the results, I was…well, I have no words to describe how I was feeling. Excited, overwhelmed, blessed, relieved, strong…nothing seems to capture that feeling.
I know that QALSody is not a cure. It’s a treatment that looks promising for me, and my other SOD pALS community members. I feel a little stronger and I notice it in things such as when I walk up a flight of stairs without having to use the handrail to pull my weight. I used it for stability :). I don’t have to sit down when I shower. My breathing is the same which can be frustrating at times, but I remind myself that I’m almost a year in and I’m still taking care of myself. I’m still working. I’m still eating. I’m still enjoying my life. I’m still “Me” and I always will be regardless of ALS and what it may take in the future.
I know that many of our community members have progressed much further and faster than I have. I wish I could change that for each of you. I hope that this treatment leads to even more advances to help all of us.
My next appointment is November 1st in Miami.
With respect and gratitude,
Amanda
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I asked one of the doctors that I see about Nurown this week. I got the impression that his thoughts were similar to Dagmar’s. I asked about the testimonials from pALS and he said he would need to research it more. The team of medical professionals that I see are amazing and professional. I didn’t expect a hard yes or no on Nurown. My impression was, they weren’t that optimistic and they wanted to see more research and facts before saying to much.
Dagmar, I agree. We need research targeting cures or at least ways to STOP the progression, not just slow it down.
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So, my role as a ALS community member and a moderator seem to be constantly changing. Since being diagnosed with ALS last December, I’ve been on an emotional roller coaster with medication approval, finances, and trying to keep a positive attitude. I’m sure many of you can understand those challenges. Ugh!! At times, I just want to scream at the top of my lungs, “I want off this ride!!” (this is hard since ALS has mostly effected my diaphragm).
So, I try hard to focus on what I have and can still do, which is a lot!! I’m still working, walking, talking, and living independently although much slower with several falls. I also try to find the good or the benefit of each situation. Although I would prefer not to have a genetic mutation, or ALS, I do believe that having both has allowed me to understand and empathize with our forum members to a greater degree. Again, I would have preferred to stay a pALS supporter and advocate, but that is not my path. I always knew that in some way, so I’ve been preparing myself for decades that this was going to be my reality. Another plus, I’ve had to dig deep to find good things about this situation! :), since I have the genetic mutation I have been able to volunteer for medical research, which I continue to do. I’ve volunteered for 4 so far. Some just collect information, some to testing and some monitor my muscles and nerves. Now I’m on the conditionally approved QALSody.
All of this helps me be a better moderator, at least I think that is true. I even think I am a better person because of this experience. If you ever have constructive feedback I’m all ears. Just send me a private message and I will do my best to learn, adapt, adjust and accommodate.
Warmly,
Amanda
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These are awesome!!! We should publish a book! 🙂
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Latest Interview — I love that the reporter is focusing on the research!!
https://www.local10.com/health/2023/08/25/uhealth-research-may-expand-benefit-of-als-drug/
Cheers,
Amanda
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@Community,
Thank you so much for the well wishes and kind words. I feel so fortunate that I am a candidate for QALSody. Know that with every treatment and every appointment I continue to pray for all of us to have this opportunity. I continue to advocate and reach out as much as I can to bring awareness to our cause and the need for treatments for all of us.
Yesterday I was interviewed by a Channel 10 in Miami. On Sept 8, WINK news here in SWFL will be joining me at my next treatment and interviewing the research team. I think there is one more Miami station on the list to interview with soon.
These interviews started when I reached out to local news stations asking if they would get the press release from the FDA when it made its decision on QALSody/Tofersen. I reached out to everyone I could think of because I wanted to hear immediately.
I’ll keep you posted and share the links to the next stories aired.
Amanda
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Anyone who is interested here is the link
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So treatment # 3, the final loading dose is complete!! I’m so excited! I’m still working, walking (slowly) and fully functional. I guess I’m fully functional :). There are some things I can’t do but these are minor compared to what I could face later. I can’t take care of my yard. Things like pull weeds, plant, basically anything that requires me to bend over or carry anything over about 5-10 pounds. When I do, my muscles lock up and spaz. The pain is excoriating. Does anyone else experience that? Afterwards, those muscles are sore as if they are bruised for days. The doctor doesn’t want to give me anything for the cramps and spasms because I/he wouldn’t know if the treatments were helping those or not. Ugh!! I get it, but it’s painful.
I also had a brief neuro exam right before my treatment. I scored -4-5 on everything. 5 is perfect…My scores were mostly -4 to a 4+. The weakest areas are my hip flexors and deltoids. They did not do breathing tests this time and that’s my biggest problem area. I can’t walk and talk at the same time. I get out of breath walking from the car to the house. I’m not complaining, just documenting! I’m thrilled I can even walk 8 months in!
This should be the month that I hopefully see progression slow down or halt! Overtime I will know if i gain anything back. Once interesting note, I can step up and down a curb a little easier this week. I was having to turn to the side and step down, but yesterday I noticed I just easily stepped down a couple of times. After that, I had to walk to the ramp area :). I have stairs at work and my office is on the second floor. I take the elevator. I can go up the stairs once, using my hands to pull a fair amount of my body weight. After one flight, I’m zapped and need my non-invasive ventilator.
They want me to bring my ventilator to my next treatment. I cannot lie on my back and breath. After the treatment they want me to lay flat on my back for an hour. This supposedly helps the treatment. If I have my ventilator on I can lay on my back. The darn thing is heavy though!! I’ll figure it out 🙂
This time my injection site has been slightly tender for about 3 days. I always feel a little achy about 2-3 days afterwards, but nothing bad. It’s that feeling, “Ah, am I catching a cold?”
I choose to continue seeing the doctors in Miami. Its about a 2 and half hour drive. I stay the night in a hotel the day of my treatment. I usually go back and sleep for several hours. This is getting expensive though. Does anyone know of grants that might help with travel and medical expenses for treatments?
If you have questions, just ask!
Amanda
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I agree whole heartedly agree. On a side note, much of what is recommended I have doing since I was in my twenties. I eat blackberries, raspberries and blueberries almost daily!
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Connie,
Spinal taps by computer?? Hmmm… Let me know what that is like. My doctor uses several shots of lidocaine prior to the procedure. That, for sure, is the worst part for me. It only takes a couple of minutes. When I can, I bring someone with me and they hold my hand and keep me talking. The doctor will explain each step so I’m not surprised. Other than the lidocaine, I’m good not knowing 🙂
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@ Connie,
The spinal tap also can detect certain biomarkers of nerve damage, such as levels of structural nerve proteins called neurofilaments (NFL). These neurofilaments may be helpful for tracking ALS disease progression. Higher numbers suggests more rapid progression. I googled to make sure I had the science below – so what is in quotes should have a website that you can read more details on. 🙂 My thoughts are in bold italics.
Below is an abstract from an article that helps explain the NFL.
Cerebrospinal fluid (CSF) findings in amyotrophic lateral sclerosis
“The cerebrospinal fluid (CSF) was examined in 90 amyotrophic lateral sclerosis (ALS) patients and in 50 age-matched normal controls. Total protein concentration was significantly higher in ALS patients than in normal controls. CSF IgG and albumin, quantitatively determined by single radial immunodiffusion, were significantly increased in ALS. No difference in serum concentrations was observed between ALS patients and normal controls. On isoelectric focusing a clearcut “fingerprint” pattern was observed in 11 of 12 cases. These findings support the hypothesis that blood-brain barrier damage occurs in ALS. The finding of a higher mononuclear cell count in young ALS patients is briefly discussed in the light of the hypothesis that an exogenous agent might be of some relevance in pathogenesis. An alteration of at least one of the CSF parameters considered was found in 45.5% of ALS cases.”
So, my understanding is that if the proteins, the NFL are elevated it is a sign of damage to axons. An axon, which is also called a nerve fibre, is the part of the nerve cell or neuron that carries nerve impulses away from the cell body. There is usually one axon connected to a muscle. When that axon is damaged (or getting damaged) we start to see signs such as cramping, twitching, loss of use….. The ALS research indicates that the Neurofilament light chain (NfL) is a biomarker that can help to identify ALS and other neurodegenerative diseases. It increases when there is damage to the spinal cord, or brian for many things, not just ALS. Ms, head trauma, other diseases and even with age. Research is trying to establish what is a “typical level (age dependent) from what is indictive of ALS or another ailment. I’m sure someone will chime in if I am off or not explaining this clearly.
“Neurofilament light chain protein (NfL, about 68 kDa) is one of many proteins in the neuronal cytoskeleton, the protein is released upon axonal damage in the central nervous system (CNS) and can be detected in the cerebrospinal fluid (CSF) and after passage over the blood brain barrier also in serum and EDTA-plasma.”
Mass General in Boston, has a great website with information about ALS and the diagnostic process. I cut and paste their information below. They are one of the top research centers, and participate in the pre-fALS study among many others for ALS. The web link is https://pubmed.ncbi.nlm.nih.gov/6737012/
The Diagnostic Process
Step 1: Neurological Exam
The first important step in the diagnostic process is an examination by a neurologist. This will include detailed family, work, and environmental histories. During the exam, the neurologist will look for typical features of ALS that may include:
- Muscle weakness (which is often only on one side of the body, such as one arm or one leg) as well as changes in the character of the individual’s voice (especially slurred words or slowness of speech). The exam will evaluate muscles of the mouth, the tongue, and those involved in chewing and swallowing.
- Lower Motor Neuron (LMN) features, such as muscles shrinking in size or muscle twitches. These twitches are called fasciculations and may occur when muscles contract without the nerve cells fully controlling them.
- Upper Motor Neuron (UMN) features, such as hyperactive reflexes and muscle spasticity (a type of tightness and rigidity of the muscles).
- Emotional changes resulting in the loss of some control of emotional responses, such as uncontrolled crying or laughing. The exam will also look at changes in thinking, such as loss of good judgment or loss of common social skills. The examiner will also look for problems in verbal fluency and word recognition abilities. These types of symptoms are less common or may be present but not readily noticeable.
The neurologist will also look for signs such as pain, loss of sensation, or extra-pyramidal rigidity, which is a different type of muscle rigidity that is frequently seen in Parkinson’s type disorders.
Step 2: Diagnostic Tests
The next step in the diagnostic process often involves a series of test. These typically include an MRI (magnetic resonance imaging) of the neck, and sometimes of the head and lower spine, an EMG (electromyography) which tests nerve conduction, and a series of blood tests.
Sometimes urine tests, genetic tests, or a lumbar puncture (also called a spinal tap) are also necessary.
EMG
The EMG is a very important part of the diagnostic procedure. Although this test can sometimes be uncomfortable, it is very important to have it done.
In the first part of the EMG, small electric shocks are sent through the nerves to measure how fast they conduct electricity and to find out whether there is any nerve damage. The shocks tend to feel like the kind you get from static electricity but may sometimes feel a bit stronger.
This first part of the EMG determines whether the individual has “nerve block,” which is a feature of a different disease called multifocal motor neuropathy. There is a chart at the end of this section which explains this disease a bit more. The first portion of the EMG also tests whether the nerves that communicate sensation are affected, which may also indicate a disease other than ALS.
The second part of the EMG tests the electrical activity of selected muscles. This is done by inserting a very fine needle into the selected muscles and using it to “listen” to the pattern of electrical activity in these muscles. No electric shocks are involved in this part of the test and the needle does not inject anything into, or take anything out of, your muscles.
MRI
An MRI is a painless, non-invasive procedure that offers a very detailed picture of the spinal cord, the nerves that come out of the spinal cord, and the bones and connective tissues that surround and protect the spinal cord. It shows more detail than a CAT (computed axial tomography) scan or X-rays. The MRI will help rule out pressure on the spinal cord or major nerves (such as from a herniated vertebral disk), Multiple Sclerosis, and tumors or bony abnormalities that compress the nerves. It can help detect vascular changes and strokes that sometimes affect the spinal cord or brain.
The MRI takes about 30 minutes. The individual having the MRI lies down inside a machine that is basically a large, rotating magnet. The test is noisy but it is painless. Some people have trouble being in a small, confined spaces and it is important to tell the doctor about this before the MRI begins so that medication can be given to help the person relax.
Blood, Urine and Other Tests: Blood tests are used to look for evidence of other diseases whose symptoms are similar to early signs of ALS. These include tests for thyroid and parathyroid disease, vitamin B12 deficiency, HIV, hepatitis, auto-immune diseases, and some types of cancer. Creatine kinase (CK), a muscle enzyme released when muscles are injured or die, is also measured.
Specialized blood tests, such as autoimmune antibody tests, anti-GM1 antibody tests, and tests looking for high levels of protein in the blood and urine that may be related to some types of cancers, are also performed. Depending on the individual’s work and environmental history, the doctor may also test his or her urine for heavy metals.
In some rare cases, genetic tests and tests of hexosaminidase A levels, which can be related to juvenile spinal muscle atrophy, may also be performed. Genetic testing for ALS is usually only done when someone else in the family has ALS.
Occasionally, a lumbar puncture (also called a spinal tap) may be required. For this test, a small needle is inserted into the lowest part of the spine (below the spinal cord) to remove fluid which will be examined for abnormal cells. A lumbar puncture is usually done only if the individual has unusual features of ALS, such as spinal nerve abnormalities, or has no sign of abnormal reflexes or spasticity. Similarly, some people who have uncommon patterns of weakness, pain, or very high creatine kinase (CK) levels may need a muscle biopsy to look for muscle-specific diseases. However, this is rarely necessary.
Step 3: Diagnosis: Once these tests have been completed, the neurologist may be able to tell whether an individual has ALS. Sometimes, not all of the symptoms and findings that are required to make the diagnosis are present, especially in the early phase of the disease. In this case, the neurologist will repeat the physical and neurological exams and the EMG at a later date to look for changes over time.
https://www.massgeneral.org/neurology/als/patient-education/diagnosing-als -
@ Connie,
It is not uncommon to be misdiagnosed as having ALS when you don’t or not having it when you do. I think the not knowing for certain would be a lot to deal with too.
For most people, those with sporadic ALS, I believe it starts with ruling any other possibilities out. Routine lab work looking for any other cause is usually done. (Forum friends please speak up, correct me or add any information here!) An EMG is done to confirm nerve or muscle damage. (Electromyography (EMG) measures muscle response or electrical activity in response to a nerve’s stimulation of the muscle. The test is used to help detect neuromuscular abnormalities. from the web) It is kind of the last option standing. I personally think there are multiple causes of ALS – I refer to it as a cluster disease. Nothing scientific about that 🙂 ! If they can’t figure it out, and it results in muscle deterioration and nerve issues, tada! You have ALS.
For others, like myself, have a genetic mutation that has been confirmed to contribute to the nerves damage and muscle deterioration. I had been volunteering for medical research so they had been doing EMGs for over 10 years and could track sublet changes that I probably wouldn’t have noticed at that time. Of course I had a genetic test done, 3 times! (As if that is going to change) They did routine blood work and spinal taps. They were looking for elevated neurofilament light chains. Those increase with ALS, MS, and head or spinal injuries among other things.
I’m not a doctor, or a scientist. This is the way I understand the process. Other’s have had different experiences. If you look at the ALS Association
“In my experience, patients who have “bulbar-onset” disease generally come to medical attention sooner than do others. Because their speech is typically affected, others will most likely notice their problem and say something about it. Perhaps an adult child from out of town will call her parent and think her mother has had a stroke or is drinking because her speech is slurred. Or someone who sings in church notices his voice is not the same. These patients will likely go to an ear-nose-throat (ENT) specialist right away, and he or she may be able to realize the problem is something neurological.
But start with your general practitioner. Since ALS is uncommon, the process usually takes a long time and may involve many health care professionals until the correct diagnosis is established. For example, depending on the nature of your symptoms, you will most likely be referred to a physical therapist, a rheumatologist (who specialized in arthritis), or even a neurosurgeon. If your physician thinks the issue may be neurological, you’ll eventually be referred to a neurologist, who is a specialist in neuromuscular diseases and problems of the nervous system.
The neurologist will first want to rule out other diseases that can cause serious weakness, such as myasthenia gravis or Guillain-Barre Syndrome. You’ll be given a thorough physical exam and will be asked about your personal and family medical history. You’ll probably have an EMG and nerve conduction study to help pinpoint the site of the problem (muscle, nerve, or the motor nerve cells in the spinal cord). You will most likely have an MRI or CT scan of the spinal cord or brain, checking to see if a back disk or compressed nerve root may be causing your symptoms. Sometimes the neurologist will want a muscle biopsy, an outpatient procedure, to better understand what is happening.
Should you end up with a diagnosis of ALS, I recommend you get a second opinion from another neurologist, preferably a person who specializes in ALS. As you can appreciate, the disease can be challenging to diagnose, and so it’s important that you be certain that the problem has been clearly defined. Just last week I had a woman in the clinic who was concerned that she might have ALS. But as it turned out, she had an unusual problem of a disk in her thoracic spine (mid-back) that compressed her spinal cord and caused weakness in her legs.
If you have sought care at a large medical center, your case may be discussed and evaluated by a team of different specialists. You can also send your medical record, test results and images electronically or by disk to another neurologist for review.
You can see why the process can end up taking months. It can take weeks to schedule an appointment with each physician, and then it takes time to do the tests, get the results and plot the next step.” from the ALS Association link above.
I hope this was helpful,Amanda
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Eric,
I wasn’t on anything and I’ve never taken supplements that are supposed to help ALS. I started taking Riluzole in May. I’m still taking that even though I started QALSody. I really don’t know if the Riluzole is making a difference or not. I’m hoping that over the next month or two that I will have some medical test that will measure the neurofilament light chain levels, and anything that will be helpful to understand if either medications are working.
I will keep you informed.
Cheers,
Amanda
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I did find this article on Les. https://www.bbc.com/news/health-62851186
It’s interesting, and positive, although it reminds me that QALSody is a treatment, not a cure.
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I did find this article on Les. https://www.bbc.com/news/health-62851186
It’s interesting, and positive, although it reminds me that QALSody is a treatment, not a cure.
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Les,
What isn’t going good now? How long have you been on Tofersen? Can you share any of the media links? I would love to watch.
I appreciate your willingness to honestly share the good, bad and ugly.
Amanda
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Sandy,
The spinal tap aka lumbar puncture is not bad at all!! I’m sure your husband is rolling his eyes to that comment, I did when someone on here said that to me :).
The only thing I really feel is the two shots of lidocaine they use to numb the area. I’ve had 5 so far, two for research and 3 for treatments. There is very little down time too! My back is a little tender at the injection site but nothing too serious. Sometimes I get achy muscles a few days after and I assume it’s related. To be honest, I think the emotional toll played a harder time on me these first 3 treatments. I waited so long to get this approved and started I was just wore out.
Sandy, if you want to talk, or if your husband wants to talk about Tofersen I would be more than happy to share what I know and my experience. I know that each person is different and has different needs. I don’t know if this treatment is a good choice for your husband but I’m here if I can help. No pressure. I’ll send you a private message.
Amanda
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Sandy,
The spinal tap aka lumbar puncture is not bad at all!! I’m sure your husband is rolling his eyes to that comment, I did when someone on here said that to me :).
The only thing I really feel is the two shots of lidocaine they use to numb the area. I’ve had 5 so far, two for research and 3 for treatments. There is very little down time too! My back is a little tender at the injection site but nothing too serious. Sometimes I get achy muscles a few days after and I assume it’s related. To be honest, I think the emotional toll played a harder time on me these first 3 treatments. I waited so long to get this approved and started I was just wore out.
Sandy, if you want to talk, or if your husband wants to talk about Tofersen I would be more than happy to share what I know and my experience. I know that each person is different and has different needs. I don’t know if this treatment is a good choice for your husband but I’m here if I can help. No pressure. I’ll send you a private message.
Amanda
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Florence,
You have a beautiful and loving heart. It takes a special person to be able to see things and put them into perspective, especially under that kind of stress. We are fortunate to have you on the forums.
Amand
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Kim,
I understand your comment and it hits home hard. I’m single, no children and not a veteran. So far I have been lucky and my insurance is covering some of the medical. I am having a difficult time taking care of some of my home responsibilities because I just can’t do the physical work. I am looking into grants from the ALS association too. I’m not far along in my progression, but this is one of my biggest fears as I progress. It is hard to think about and it has made me look at our healthcare system differently!
Amanda
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Thank you for the clarification and scientific explanation Dave!
For more scientific information about Tofersen and similar treatments check out…
https://www.sciencedirect.com/topics/pharmacology-toxicology-and-pharmaceutical-science/tofersen
“Tofersen (BIIB067) is an antisense oligonucleotide (ASO) that facilitates the degradation of SOD1 messenger RNA to diminish SOD1 protein production. Intrathecal administration of Tofersen is being investigated for the treatment of ALS due to SOD1 mutations.”