April 20, 2022 at 6:10 pm #21799
Hello All. I have been having neuromuscular symptoms for over 2.5 years now and would like to compare notes in regards to what my journey has looked like. I know this is a long story but trust me, this is as brief as I could make it.
August 2019 – Started to have muscle fatigue in both arms. But my hands were ok and I could not tell which arm was worse.
October 2019 – Saw a neurosurgeon because I thought this was related to cervical stenosis I had been diagnosed with a few months prior. The neurosurgeon did a few strength and reflex tests, (including Hoffman’s) and they were relatively normal. He then told me to see a neurologist because he didn’t think these symptoms were related to herniated disks.
October 2019 – Saw a neurologist. By this time, I began having twitching that started in my legs and spread to my arms, along with my left foot feeling “off”, like it was weak and sinking into the ground but I only mentioned the arm issues to her because I didn’t want to come off as a patient complaining about anything and everything. She was not board certified and didn’t have the best reviews. I only saw her because she could get me in within a few days, versus other neurologists who were backed up at least a month. She pretty much did the same physical exams the neurosurgeon did. She ordered an MRI of the brain with contrast to check for Multiple Sclerosis, a blood test for Myasthenia Gravis, an SPEP test, and Creatine Kinase test, all of which were normal. She then said she wanted to do an EMG of my forearms, biceps, and triceps, because that is the only place where I told her I felt weak. She said I had carpal tunnel in my right hand on the NCV part of the test. She tested the muscles both at rest and when pushing against her hand during the EMG and said everything looked normal. But when I asked her for a copy of the test, she did not have it. She only typed “EMG was unremarkable. NCV showed mild carpal tunnel.” It was kind of a joke. She asked me if I wanted her to refer me to our local neuromuscular clinic to get a second opinion. I said no, if you’re telling me everything is ok.
Feb 2020 to Sept 2020 – Saw two other neurosurgeons, because I was convinced this was related to my herniated discs. They both said they couldn’t help me and to see a neuromuscular specialist, not just a general neurologist. By this time, my left foot went from just feeling off to having very noticeable dysfunction, like it didn’t work properly. However, I did not have full on foot drop. But there was resistance when I would pull it all the way up.
Sept 2020 – Called my local neuromuscular clinic and they told me I needed a referral from a general neurologist to be seen. Called a general neurologist and booked an apt for Oct.
Oct 2020 – Walked into see the general neuro, who specializes in stroke and was up front with me about not knowing much about neuromuscular disease when I told him why I was there. He admitted that he had never even seen an ALS patient. After I told him about the twitching and weakness in my arms and left foot, he did some reflex testing but not strength tests. It’s important to note that now I am having cramps and what I would refer to as rigidity or spasticity on the bottom of both feet. Like a muscle contraction that does not got away. Even though I told him pretty clearly MS was already ruled out, he said “The first thing I would rule out is MS.” I had to remind him of what I just said. Very frustrating. Then he said that if I want the referral to see the neuromuscular specialist, I need to get an EMG first with one of his colleagues within the same office. Had I known that a neurophysiologist is best to perform an EMG, I would have told him I’d rather wait until I get to the neuromuscular clinic, but I didn’t know any better and agreed.
Nov 2020 – His colleague, who is a neurologist who specializes in headaches, performs the test. He claims the NCV was normal and that the first neurologist I saw was wrong to say I had a carpal tunnel. Then he says “these tests can change on a daily basis”, which I was skeptical of and thought was an odd thing to say. On the EMG part of the test, he tested both at rest and during contraction of the leg muscles, but only at rest during the remainder of the test. As I understand it, you cannot pick up any motor unit potentials unless the muscle is contracted, which is essential when testing for a neuromuscular disease. Verdict – EMG showed +1 positive waves at the left tibialis interior and peroneus longus, which he chalked up to a radiculopathy caused by a disc bulge at L4-L5. The original neuro then ordered an MRI of the lumbar spine, which did show ” disc bulge with possible L5 nerve compression.” He tried to tell me it’s just a pinched nerve on the left side of my spine. I asked him, then what would explain the symptoms in my right foot and both arms? He just shook his head and said maybe magnesium deficiency and not exercising enough. What really stuck out to me is that the neuro who performed the EMG said he could see me twitching from head to toe but not a single fasic showed up on the test. That seemed very strange to me. But he complied and gave me the referral to the neuromuscular clinic.
Jan 2021 – When I walked into the exam room at the neuromuscular clinic, I was surprised to see someone who was being fellowship trained and not the doctor that I was supposed to see. He introduced himself to me and I did the same old, same old – explained to what had been going on for the past year and a half. I have to give him credit, he did a very thorough exam in terms of strength tests. Even looked at my tongue for twitches and all the bulbar stuff. One thing I didn’t like was that he did not have me sit on the exam table and let my feet dangle when testing reflexes with the hammer. He just had me sit in a regular chair with my feet touching the ground. After that, the actual doctor I was supposed to see walks in and just kind of starts rambling. He’s like “So one day you felt your arm was weak…” It was like he was more interested in ruling everything out instead of considering there was something going on. At times he seemed a little belligerent and not acting very professional. He proceeded to do the same tests the doctor who was being trained just performed and then had me walk around the hallway to examine my gait. He concluded the consult by basically saying “ALS is a clinical diagnosis. I don’t rely on EMG. Someone can push the needle the wrong way and that can create a positive wave/fibrillation. I don’t think you have ALS.” I then asked him about some atrophy I had noticed in my right hand, in the area between the thumb and index finger. He said that you don’t have to look for it and it would be more prominent if it was anything to worry about. I wanted to ask him for another EMG to be performed by the neurophysiologist who works at the clinic, but I knew he was not going to order it after he said that. What also makes me uncomfortable – I read some of his reviews online, and he told three different patients nothing was wrong with them and then they ended up having polyneuropathy, myasthenia gravis, and wilson’s disease after seeking out a second opinion. But his credntials showed that he was not only trained in neuromuscular medicine but did an extra fellowship at one of the best ALS clinics in the country. So I go back and forth. I think the primary reason why neither doc thought to purse anything further was because I had fatigue and perceived weakness but not clinical weakness. But he did say to come back if my symptoms got worse.
Present day – Since that appointment 16 months ago, both arms, especially the right has decreased tremendously in strength. Also, I never had weakness in either of my hands but now my right hand trembles when I try to squeeze a ketchup bottle and does not act the way it’s supposed to when I open the cap of a water bottle. The atrophy that was between my thumb and index finger has become more prominent and that area has now started twitching for the first time. There is some atrophy in the palm as well. I’m also having cramps in my stomach, under the ribs, and in my neck. This is not perceived weakness but things are actually starting to fail. The twitching has gotten worse and now it happens when the muscle is in use, whereas before it would happen only at rest. The spasticity/rigidity on the bottom of my right foot has become permanent and is weak like my left foot. I cannot walk on it without my shoes on because the tightening of the muscle makes it painful. Surprisingly, my left foot is still weak but the spasticity is not that. Both feet are very stiff when I wake up in the morning. I have made that appointment with the neuromuscular doctor that I hoped I wouldn’t need and I see him on May 13.
I apologize for the long story. I just wanted some insight, if possible – In your experience, is this normal to go so long without a diagnosis if this is indeed ALS or another neuromuscular condition? I really believe that if the EMG was performed by someone who was actually trained to know what to look for and the neuromuscular doctors I saw took the situation more seriously, I would have had an answer a long time ago. Thanks.
April 21, 2022 at 2:42 pm #21804Trevor BowerParticipant
I don’t know where you live. You need to keep looking. Find a recognized ALS doctor. Never give up looking for help.
April 21, 2022 at 3:58 pm #21807Dagmar MunnKeymaster
I agree with you Trevor.
Mike – – it does take a long time for many patients to finally have a definitive diagnosis. Some see the same neurologist, but the symptoms are so slow that an early determination can’t be made. Others (like what seems to have happened to you) see numerous physicians but due to their lack of familiarity with ALS, are hesitant or incapable of making a diagnosis. You are not the only one who has experienced this.
But at this point, as Trevor said, find an ALS-specialist neurologist. I know it means you tell your medical history yet one more time. But if it is ALS, the sooner you can begin medications like Riluzole or Radicava, the better. Try contacting the ALS Association (ALSA.org) and locate the chapter where you live. They will know the names of ALS specialists. Best wishes on your journey for an answer.
May 6, 2022 at 2:22 am #21912Don PoveyParticipant
This is a typical story for ALS sufferers. Because there is no particular test for ALS they have exhaust every other possibility before they come to the ultimate conclusion. Your journey is not uncommon but quite the reverse. I shared your journey and never ending questions with no answers and countless hours on the internet with again, no answers.
The frustration is phenomenal especially, in my case, I feel so well and capable inside.
You are not alone buddy.
May 11, 2022 at 2:18 pm #21932
Thanks, Don. So as of right now, you also do not have a diagnosis?
April 21, 2022 at 3:53 pm #21806LisaParticipant
Mike, I will second what Trevor has said. Keep looking. Do not settle for seeing a neurologist that has admitted to never seeing an ALS patient. I really question a neurologist who says that, because while rare, ALS is not THAT rare!
You must be your own advocate right now and do some research in finding a qualified doctor. The ALS Association has a list of ALS clinics, even if it’s hours away the trip would be worth it. If it’s not feasible to visit an actual clinic, you can try to find a larger hospital system, even one possibly associated with a university. They tend to have larger groups of neurologists with ones that specialize in specific areas, you want one who specializes in neuromuscular diseases (NMD).
When you visit, do exactly what you did in you note above. Have your symptoms written down in sequence, and don’t leave ANYTHING out, whether you think it’s related or not. Even the smallest detail can make a difference. They also need to see the progression, that is very important with helping to diagnose or rule out ALS. As you are probably aware, there is no specific test to diagnose, it’s a matter of looking at progression of symptoms and ruling everything else out.
April 21, 2022 at 5:49 pm #21808Kathy stitzParticipant
I agree with the advice that has been given above but would also like to add that I sincerely hope you don’t have ALS. In my opinion, the hardest part is actually being diagnosed with this horrible condition and your life after that is never the same. You know you’ll never get better and you’re totally aware of the progressive loss of functioning in your body that occurs. There is depression and anxiety and fear about what the future will be like. There is no cure for ALS and little that the doctors can do about it. Sometimes you are unable to eat, speak, or walk and your breathing gets worse until most ALS patients pass away due to respiratory failure. This usually happens a few years after being diagnosed. Some forms of onset, like respiratory and bulbar, have a worse prognosis than limb-onset. I hope your symptoms can be treated, Mike, and that you will feel better soon. Best wishes.
May 4, 2022 at 8:53 pm #21902Marcelyn K. HarnessParticipant
I am not sure where you live, but reading about patients’ struggles shows that there usually seems to be a delay in diagnosis of ALS. We finally got a definitive ALS diagnosis for our daughter from Dr. Jeffrey Rothstein, MD at Johns Hopkins in Baltimore. I am not “stumping” for or against any particular physicians, but the ALS clinic staff at Johns Hopkins were very knowledgeable, and they get to the point quickly. I would highly recommend that you go there to consult him.
May 11, 2022 at 2:23 pm #21933
Thanks for the suggestion. I know Johns Hopkins has a great reputation, but my insurance (Blue Shield of California) only allows me to see doctors within the state of CA. I’m sure I can apply for special authorization, but I have an appointment this Friday with the first neuromuscular specialist who saw me in Jan 2021. With my progression of symptoms, I’m sure I will have a good idea of what’s going on just by his physical exam.
April 21, 2022 at 8:45 pm #21811
Hi Mike and all-
I, too, have not yet received a diagnosis but there are many similarities in our stories. First, this is my first posting and I really feel like I really need to tell my story and get things off my chest. I have read ALS Forum for some time, but as I am not yet officially diagnosed, I had not registered. Your posting inspired me to finally register so I could respond to you. I would also like to hear how others here have gotten to where they now are. I am very frustrated and I have read many first person accounts of similar experiences to mine and have felt better about things.
My story begins in the early summer of 2019 though in hindsight probably a couple of years before that as I was then getting regular cramps in my legs, feet and toes – especially in bed and when stretching. Didn’t think much of it. I was athletic in my youth and didn’t the cramps to be that unusual. Anyway, early summer of 2019 I started noticing that I was quickly fatigued when walking. My legs and their joints ached. I assumed I was working too much and just tired. Then, I began to notice my gait had changed. I had had very mild foot drop on my right side since 2016, and realized I had developed a far worse case on my left side. Backing up a bit, I have/had spinal stenosis through out my lumbar spine which was causing me some pain in my gluts, shooting pain and rt foot drop. I had a decompression surgery done in 2016. Minor surgery – back to work in 2 weeks. Pain went away, but foot drop did not improve. So, back again to 2019, I saw my Physiatrist about bilateral foot drop. He sent me to a local neurologist who did an EMG and felt I had L5 radiculopathy. Physiatrist recommended I talk to a surgeon and see a neurologist at Univ. of Wisc. It is now the end of the summer 2019 and I noticed atrophy in my lower left leg. I went for a walk in the woods and kept losing my balance and fell multiple times. After a few falls I realized the cause was my ankles were rolling in. I saw the surgeon who recommended a L5-S1 fusion. BIG surgery, but I was having majorly scary symptoms. I talked to my GP, the Neurologist and the Physiatrist and all felt the surgery was likely the cause of my symptoms. I was scared that I was damaging nerves that may not recover. I had major weakness causing me to be unable to walk on uneven surfaces. I had significant pain in my hips and legs. I could not get into UW f(2 hours away)or several months. and felt time was of the essence. I decided to have the surgery 10/2019. It was deemed a success, but my pain increased, walking and foot drop did not improve. I saw a UW Neurologist who did a very comprehensive exam, ordered a plethora of blood tests and told me I likely had radiculopathy and definitely did not have ALS. I liked him a lot. I at this point knew I had something else going on. He was less certain of his diagnosis when my blood work showed elevated an CK. He ordered another EMG which showed a neurogenic process, likely a neuropathy and no evidence of muscle disease. He referred me to their Neuromuscular specialist 1/20. She did a comprehensive exam and ordered a plethora of different labs and told me I likely had radiculopathy. I liked her a lot. She was less certain of her diagnosis when my CK level came back higher still. She ordered a muscle biopsy to check further for muscle disease, and also did blood work looking for antibodies. Both came back abnormal. The biopsy showing excessive glycogen in the muscle cells (which has since been deemed of no significance via genetic testing), and the blood positive for Neurofascin 140 which isn’t supposed to be there, but is not a known to be a marker for and immune mediated conditions. She ordered a lumbar puncture and a lumbar MRI to further rule out radiculopathy. MRI lacked evidence to support radiculopathy, while the lumbar puncture showed mildly elevated protein. It is now around 4/20. Based on the elevated protein and the Neurofascin 140 she put me on IV immunoglobulin infusions (very expensive, very hard to get insurance to cover) for a possible immune mediated condition. While completing the 3 month course my symptoms continued to progress and IVIg was discontinued. Some motor neuropathy genetic testing was done which showed a variant of unknown significance. I was given the option of more genetic testing – full genome sequencing – however, insurance does not cover and I wanted an answer, so I coughed up the cash and paid out of pocket. This showed nothing relevant to my condition. We are now in late 2021 at this point. Throughout the process – and each of these tests/procedures takes a maddeningly long time to schedule, then get approved, then get the results – I saw UW Dr every 3 months to be assessed for progression. During the summer of 2021 I began to see atrophy in my upper body, chest, shoulders, arms, hands. Her strength assessment did not show her the progression that I was seeing. My strength falls within normal range. I tried to explain that she is a 110lb person and I a 200lb former weightlifter/athlete and while I understand I fall within normal limits, each person’s baseline is different. She appreciated that, and takes my subjective opinion. Because of this she ordered another EMG which was similar to the past ones – a good thing as that would indicate my condition wasn’t clinically progressing quickly – but frustrating as I KNOW things are progressing alarmingly fast. At this point she feels I have either a NMD, likely PMA, or an axonal motor neuropathy. She suggested I get a second opinion at Mayo (4 hrs away). Mayo is not covered by my insurance, so I coughed up the cash and paid out of pocket. I saw the Mayo Dr in 2/22. I liked him a lot! He did a comprehensive exam and ordered an EMG (not a plethora of labs!) This EMG showed more widespread abnormalities and he also concluded I have either a NMD or a motor neuropathy. He then ordered a plethora of labs, a chest CT and more MRIs (brain, C-spine, and pelvis) to try an eliminate remaining possible causes of motor neuropathies. We finally talked this week. All tests/procedures came back normal. He wants to see me again this August to assess progression via exam and another MRI (I have lost count). The only way to determine it is NMD is to watch how things progress, but I think it is safe to say we have eliminated motor neuropathy which leaves a diagnosis of NMD, likely PMA as I have no UMN symptoms.
Currently, I am miserable. My hips and legs are terribly painful and seems directly related to activity level. My gluts and hamstrings feel like they are locked in a clenched state. We have tried all the possible medications(I am a pharmacist) with no relief. I struggle to walk (using AFO) – limping, twisted and hunched like a 97 year old(54). I can’t without holding on to something or leaning a knee against something or staggering or bending my knees. Can’t climb stairs without pulling myself up with arms. Endless fatigue. Atrophy everywhere. Weak lower body, weakening upper body. Muscles twitching(no fasiculations on EMGs). I feel little twitches that are not visible and which constantly jump from place to place like a lightning storm viewed from space and also sustained full muscle fasiculations that last minutes to multiple hours – tho this has decreased over the last 6 months or so. My left index finger trembles. And, if this is possible, I have of late noticed chewing to be a more labored process. Do/have others had similar symptoms? I have been told multiple times that there is “no pain with ALS/MND” yet it is one of my most constant and difficult symptom to overcome. I know if I reduce my activity level the pain will be lessened, but I am not yet ready to yield to a wheelchair and I love my job and can’t afford to stop working. My quality of life is exceptionally poor. I can’t do the things I want to do (yard work, carrying things, etc, etc) let alone the thing I enjoyed doing (the outdoors). I know some of it I need to overcome mentally like the difficulties encountered in going to a hockey game or concert, but I also used to hunt and fish which physically I know I will never be able to do again. Getting through a day at work is a very difficult struggle! Rambling now, need to wrap this up!
Mike, my advice is to do your own research. My wife (a RN) and I have spent tons of time researching possibilities and have arrived at the same conclusions at the same time as the DRs. This began way back in the summer of 2019. I think deep down I knew then that it was more than radiculopathy, but I honestly think had I not had the fusion when I did it would only have delayed things til I eliminated that as an option. Research what condtions fir and what ones do not but may be similar. Research what tests should be being done and ask for them or ask why not? Absolutely research and find a qualified Neuromuscular specialist wherever you have to go. My UW Dr is awesome. She was aggressive in ordering diagnostics – they just take too long! She is the one who suggested I go to Mayo which is something not every DR will do (ego is tough). You need to have a Dr in whom you feel confident. I know this has been said but you need to self advocate. Have questions prepared for the Dr ahead of time and don’t let them walk out the door until they have been answered. Message the Dr in between appointments to get questions answered. Call the insurance when needed, call the clinics where procedures will be done to speed up scheduling. Be the squeaky wheel.
I apologize. This has been very long, but very therapeutic. Thanks for listening and I would love to hear your comments and stories!
April 21, 2022 at 10:11 pm #21812
Thanks for your input, Trevor, Dagmar, Lisa, Kathy, and John.
Here’s the thing – the clinic I went to was indeed an ALS Association Certified Center and run by a major academic university. The doctor who was being trained was a neuromuscular fellow and his supervisor who also examined me completed a fellowship specifically in ALS at the Lou & Eleanor Gehrig ALS Center at Columbia. He had excellent credentials. I didn’t want to name the clinic I went to because I believe you are prohibited from making negative comments about medical facilities on the site.
Just to give you an idea of where I’m located – Cedars, UCSD, USC, Harbor-UCLA, and Loma Linda are all listed on the ALS Association web site and within an hour driving distance of me but none of those doctors accept my insurance. I have Blue Shield PPO. So unfortunately, I have to go to this particular clinic if I don’t want to pay a small fortune. I’m actually ok with it because the person who performs their EMG’s, as I suspect I will have after seeing this doc on May 13, is a neurophysiologist who has specialty training specifically in performing EMGs on ALS patients. I’m sure we will get to the bottom of this sooner or later.
John – Yes, you and I have very similar stories. It’s amazing. By no means am I doctor but do you mind saying what were the “abnormalities” seen on your latest EMG? Positive waves, fibrillations, etc…? This would give you a clue as to why the neuro at Mayo has come to the conclusions he has. Isn’t it strange that we both have very visible twitching but none is seen on EMG? If it wasn’t for the spasticity and cramps I was having, I would be all lower motor neuron involvement and would suspect PMA vs ALS, like you. I understand you have bilateral foot drop, but when they test your strength in your arms, is it normal? Doctors seem to say “you have perceived weakness vs clinical weakness” if you can still pass them. PMA progresses much slower than ALS. Considering you’ve had symptoms for possibly 6 years and are not fully paralyzed, it would make sense if that is what it turns out to be. I hope you and I both find the answers we so desperately need soon.
April 22, 2022 at 8:26 am #21817
My most recent EMG/NCS demonstrated low amplitude lower limb compound action potentials. Lower limb motor conduction velocities mildly slowed. No conduction block. It was positive for fibrillation potentials, reduced recruitment motor unit potentials with no fasiculations. Interpretation: “There is evidence of a chronic, diffuse disorder affecting lower motor neurons or their corresponding axons and no convincing evidence of a myopathic disorder.”
My upper body tests within the normal range on exam, yet it is obvious to me that I have lost and am losing muscle mass and that I am far weaker than I used to be. There doesn’t seem a way to account for someone who may have had a higher baseline strength to start with. In my hands I see bones, tendons and veins I could not see before which is consistent with the my feet. The “meat” of the palm of my hand is definitely reduced. I wish someone would have measured my wrists or forearms early on as I again see an obvious reduction in circumference of both. When I look in the mirror I see less muscle in my chest and shoulders. The muscle I have feels different. It is no longer firm and feels more like jelly. My skin is saggy where it wasn’t. Yes, there seems to be a definite difference between “perceived” and “clinical” weakness. I know my perceived weakness is subjective, but isn’t the Dr’s assessment of strength subjective too? They just assign a number based on their perception of my ability to resist them.
Sounds like you have done your research, but if you don’t have confidence in your Dr I would search for another. To me that is essential in medicine. I don’t understand why they didn’t want to reassess you 3 or 6 months after your initial visit. 16 months of waiting and wondering and worrying is way too long! I have been lucky that all the Drs at UW and Mayo have been excellent. At my first UW appt I also saw a resident before the Dr with whom I was scheduled to see came in. Seems to be the norm at teaching facilities, but since the initial visit I see just her.
I hope your 5/13 appt produces something positive. I would push for more tests as it doesn’t sound like they have pursued things very aggressively for you. As an example, the Mayo Dr knew the whole genome sequencing that I had done did not cover repeat expansion disorders(to my dismay). These are common in hereditary ALS. He ordered these and a kit was sent to me to do at home and send in – all for free as it is a sponsored test. Came back negative, but he wanted to rule out as there are treatments available for these patients. I wish you all the best and hope you find answers! Let us know how things go.
PS: I may repost my story this weekend and see if any more people respond with there own.
April 22, 2022 at 2:08 pm #21819
To be honest, I could have went back after 6 months for a follow up consult if I wanted to, but I put my trust into them in Jan 2021 and didn’t want to come off as a hypochondriac. When someone who is supposedly an expert in ALS tells you he doesn’t think you have it, you want to believe them because it is such a horrible disease. Deep down I was skeptical. I should have returned sooner and begged for another clinical exam + EMG.
Regarding your latest EMG – Again, I’m no doctor but assuming your EMG was performed on all four of the regions of your body, it is interesting that you are physically seeing atrophy in your upper body and noticing gradual weakness but electrophysiological evidence diagnostic for an NMD is only showing changes in the lower limbs. Atrophy is a classic LMN sign and should show up in both PMA and ALS on EMG. Also, from what I read, PMA usually starts in the hands but your first symptoms were in your feet, way back in 2016. Not to say that it CAN’T start in your legs. Surely, all these various neuros you have been seeing have commented to you that your case is a difficult one to crack…
May 10, 2022 at 3:52 pm #21926Lisa BrownParticipant
John, My experience exactly mirrors yours except my progression has slowed 77% according to the ALS scale, by taking RCH4 and appropriate supplements, magnesium for cramps and fasciculations. I too have stenosis – L4/L5 and cervical. To me the possible 3 months extra with Radicava or rizulole is not worth the side effects. It is a patch not a repair.
My EMG testing was performed by a Mayo Clinic trained Dr. Who specialised in muscular sound waves. Muscles make sounds when contracting and relaxed. I guess it may just be mirroring the amplitude of the signal. I digress. I did not accept the first diagnosis and went to another ALS specialist who confirmed MND. I am in NZ.
Mike, I recommend Mayo Clinic, although I haven’t been there, I have researched and know they are well trained and informed.
May 10, 2022 at 5:40 pm #21927
Lisa B- How long did it take to get your diagnosis? Did/do you have pain? I have been told NMD is painless, yet I have significant pain. I would love to hear more about your experiences.
May 11, 2022 at 11:53 am #21929Dagmar MunnKeymaster
Lisa – I am happy to read that you have found a regimen that works for you. But, I need to point out that “RCH4” is yet an unproven treatment for ALS. Also, generalizing the long-term effects of Riluzole and Radicava to only “3 months” is your opinion only…. for example, I have taken Riluzole for the past 12 years (way beyond the 3 months prediction) and have had no side effects what so ever.
All ALS treatments to date (including RCH4) are a patch. Nothing is available, yet, that is a repair. ALS affects everyone differently.
May 11, 2022 at 2:42 pm #21934
Lisa, thanks for your input. I’ve heard nothing but good things about Mayo but I already have an appointment this Friday with my local neuromuscular specialist. My insurance (Blue Shield) only allows me to see doctors within the state of CA. I will certainly try to get into another university ALS center if this doctor does not provide me with a diagnosis.
As for taking magnesium for cramps and twitching – I have researched this extensively and from what multiple doctors have said, magnesium deficiency generally only causes cramps and twitching if it causes secondary potassium and/or calcium deficiency. By default, if your potassium and calcium levels are normal on your most recent blood work, magnesium deficiency and supplements you take to increase the level would unlikely to help with twitching and cramps. I would also be concerned about taking supplements and having too much magnesium in the blood. This is something that needs to be monitored. However, I do believe that you feel it is the reason why your cramps and twitching have decreased and I say keep doing what you think is helping. Like Dagmar said, every patient is different.
April 25, 2022 at 7:45 am #21830AmandaKeymaster
@ Mike and @John,
First, thank you for sharing your stories. I am glad that you found the forums a safe place to share and process some of what you are both experiencing. As you can see, our online community is amazingly supportive. Also, you know that you are not alone in dealing with some doctors who are not well informed about ALS and in my opinion, don’t know when to refer to a specialist. It is a difficult journey to diagnoses (and hopefully not one of ALS.)
They are making advances in identifying biomarkers and ways to more easily distinguish ALS from other illnesses; however, those are still in the research phase.
Have either of you contacted any of the ALS research facilities? If you are interested I’m sure some of our members can share contact information. I have some information for familial ALS research candidates. That is how I found out I had the genetic mutation. Often times, if it is ALS, the earlier you reach out to a research facility the sooner you might get to see a specialist and/or considered for a trial if you are interested. Do either of you know if you have a family history of neuromuscular diseases?
Once again, thank you both (and all the members who share their experiences) for sharing. Please do keep us updated on what is going on with your health.
- This reply was modified 5 months ago by Amanda.
April 25, 2022 at 1:39 pm #21832
Thank you for the kind words, Amanda.
No, we don’t have a family history of neuromuscular disease. However, we do have a strong history of Alzheimer’s. My great grandmother, grandmother, and second cousin on my mother’s side all had it. Certainly by now we know it’s genetic.
Here’s what’s crazy – Scientists have identified genetic mutations like KIF5A and TET2 that were found in both Alzheimer’s patients and ALS patients. They’ve also found a protein called TDP-43 which was detected in the neuronal deposits of Alzheimer’s and ALS patients. It would not surprise me that there is a genetic component to the version of ALS that I possibly have.
As far as contacting any research facilities about genetic testing and entering a trial, I’d rather wait until I am officially diagnosed. I don’t believe you can participate in any unless you are diagnosed, correct?
May 18, 2022 at 8:11 am #21953Perfecto CobianParticipant
I was diagnosed with ALS after everything else was ruled out on December 18, 2019. I have since then read thousands of pages about ALS, got into an ALS clinic, joined an ALS support group, became an advocate for ALS. Each journey is different due to how ALS manifests in each one of us.
The best place for information is alsfoundation.org. There you can find you local area ALS Foundation contact information; clinical trials info and much more.
Make sure that you seek resources for patients as well as for your care diver. Feel free to contact me if you have questions related to ALS or just need to vent. YOU ARE NOT ALONE.
May 24, 2022 at 7:36 pm #22011
Sorry for the late reply, but thanks Perfecto. That is very kind of you.
April 25, 2022 at 2:38 pm #21833
My father’s 1st cousin was diagnosed with ALS, but I have had the full battery of genetic testing and had no positive results. I am currently seeing a Neuromuscular specialist at Mayo Rochester, MN. I am not sure if they are an official ALS research facility, but I think they are in the thick of the research component of the disease there. I too am waiting for an official diagnosis.
May 14, 2022 at 2:04 pm #21946
I was formally given a diagnosis yesterday of Motor Neuron Disease-Progressive Muscular Atrophy. Felt a sense of relief that I at least know with what I am dealing. I know its a long haul from here.
May 15, 2022 at 1:36 pm #21947
I’m sorry to hear that, John. For what it’s worth, I hope your progression going forward will be as slow as it has been for the past several years.
Have you looked into whether or not PMA allows you to go on Medicare before the age of 65? The information I read said specifically ALS and end stage kidney disease. This is something you should research if and when you feel you can no longer work.
Good luck. Keep us updated.
May 15, 2022 at 1:55 pm #21948
Update – I had my appointment with the neuromuscular specialist on Friday.
The physical exam yielded some interesting results.
I have bilateral hyperreflexia when he does the knee jerk reflex that I did not have before. But no clonus. He said he considers it a +3. Hoffman’s reflex on both hands was negative. My strength in my upper body was somewhat diminished, compared to my exam in Jan 2021, but he said it was still a 4/5. Obviously any decrease in strength is not good but I’m just happy I don’t have full on muscle failure at this time. He said he agrees there is some atrophy in my right hand but that I don’t have split hand syndrome yet.
When I asked him the million dollar question, he was a bit evasive and said that we need to do an EMG. I’ve already had a ton of other testing, so that is the only test he thought would provide us any answers going forward. From the vibe I got from him, I’m under the impression that he doesn’t want to say whether he thinks this is or isn’t ALS. I tried to schedule the EMG but had to leave a message. Will try again on Monday.
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