[John M C]

Got it, Bill. Thanks! Add some mud flaps with those knobbies!

[John M C]

Thanks for the info. I appreciate the input!

[John M C]

Thanks, JT!

[John M C]

That’s great info, thanks so much. As i get further into the plan I will definitely be in touch.

[John M C]

Thanks, Mary. I appreciate your time in sharing. Video came through. I have actually looked into this one – price will definitely be a consideration.

[John M C]

Thank you all for the informarion!!

[John M C]

Thanks, Dagmar. I am sure I speak for all when I say your resourcefulness is greatly appreciated!

[John M C]

Thanks for your help!

[John M C]

This topic really hits home for me. I am at the point where I know deep down I should start to use a walker for safety, yet i don’t want to cross that line as it seems like a major milestone – it feels like I am giving up or giving in. I don’t want to admit defeat. I have had lots of falls, but none that were serious….yet. That will likely be my catalyst. I know the effort necessary to walk now is causing me lots of pain and I am sure contributes to the fatigue. But, I don’t want to give up walking til I absolutely have to. Part of it is a “pride” thing as I already feel like people are looking at me as I hobble around with a walking stick. A walker will draw more eyes. I own and have used both a walker and chair when traveling. I was very aware of the eyes. In my small town I fear it will draw the inevitable question “what happened to you” from those who I haven’t seen in awhile and the awkward explanation that follows. Another part of it is convenience. I can walk short distances and don’t want to unpack my walker from my car then put it back. I’m still working and I am already in everyone else’s way. My walker will make that worse. I want to put off relying on others as long as I can. Worst of all, I am stubborn!

[John M C]

Hmmmmm. The similarities continue. I had a neurologist recommended L4-S1 fusion done for foot drop as well. I have/had stenosis at multiple levels. As it turned out it was probably a good thing as it was difficult to convince anyone that there was more going on. I also find my self exerting to do simple thing like getting dressed. I get out of the shower and by the time I am dressed and ready to go I have a sweat going that makes me want to take another shower! Let us know if your pain appt leads to any viable options. I would like to pass it along to my Drs.

MND that does not present in the typical manner is very difficult to diagnose, and takes a long time. The good news being that it also tends to progress more slowly. I am sure you know all this too. I hope you get answers quickly! As Tom Petty said, The Waiting is the Hardest Part

[John M C]

I was undiagnosed until 2 months ago after nearly 3 years of procedures, tests, scans, labs, etc… sure you know. I am diagnosed with PMA as I do not yet have Upper Motor Neuron symptoms. I have had significant pain through out the process and have been told multiple times that NMDs are painless. Not mine. My muscles ache constantly and the pain seems to affect those muscles/joints most greatly atrophied with more consistency, although I do also experience pain in muscles that are not yet as badly atrophied. The area of greatest pain changes though out the day and affects both muscle and joints. Definitely worse the more activity I have, but I am not ready to stop hobbling around with my walking stick and give up working. It makes sense to me as I am asking muscles to do things(walking and standing) that they no longer able to do. Other muscles are taking over and trying to help and do things for which they were not intended. Stress is increased to those muscles, the connective tissues and the joints. It has been explained to me(in this community) that motor neurons aren’t involved in pain – that’s sensory neurons. So, I get that MNDs do not cause pain, but I can still get around – tho with difficulty. I am not trying to do much other than work, which was not at all physically demanding prior to my symptoms.

As for what helps, I have yet to discover the magic bullet. I am a pharmacist and have aggressively pursued treatments with my Dr. We have tried, cyclobenzaprine, gabapentin, duloxetine, diazepam, tizanidine and baclofen with no improvement. I currently take an NSAID (meloxicam) and mulitple Tylenol doses daily and tramadol as needed. I really am not sure if either one is doing anything as my pain continues, but I am reluctant to not take them. I also take tramadol as needed, but as it causes drowsiness I don’t get more than one dose in a day, and if there are after work/school activities I also skip it. I think it may help to a small degree… or maybe it’s the drowsiness! I have an appt with a Pain Mgmt specialist in October, so I am hoping they might have some other ideas. What does work for me is rest. I elevate my legs when I can. Massage is very helpful and I wish I could get one daily. At Physical Therapy I get stretched, but there is never time to stretch all the muscles that want to be, and my insurance makes it very difficult to get appts approved. I go weekly for 6 weeks, then wait 2 months to get approval for 6 more sessions.

Ironically, I posted on this topic a couple of months back wondering what others had experienced. While I received plenty of responses there really didn’t seem to be many people with the same or degree of pain I (we) have. Eric and Carol: I would love to hear more of your paths, symptoms, etc. If others have similar experience, please share them. As you can probably tell by my rambling, sharing is very therapeutic for me! Perhaps it will be for you as well!

[John M C]

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.

[John M C]

Wow, that is eye popping!

[John M C]

That makes good sense Jean Pierre. Yet there are those for whom pain is an issue.

[John M C]

Hi, Howard and thanks! I am still able to walk some and I think that is definitely part of my problem as the more “normal” I try to be the greater the pain I experience. However, in the past I could spend the evening or weekend on the couch doing nothing and my pain would improve. Now its always there and there even with and during prolonged rest.

I appreciate your input. “Adjustable” is definitely a big part of it. Best regards to you.

[John M C]

Thanks for your response, Mary. While I have read many scholarly articles that describe ALS as painless (in addition to my Dr) there is clearly a subset of individuals who do, indeed, have pain as a major symptom. And, based on your support groups it sounds like its a fair percentage.  I am not sure why ALS specialists would make such a blanket statement as “ALS is a painless condition” since ALS is such a diverse condition with an array of presentations, rates of progression, and affects every one differently.

It is reassuring to me to hear it from those who have experienced it directly and I appreciate you taking the time to comment. I wish you and Bill the best and hope he finds relief.

[John M C]

Not at all. I appreciate your contribution!

[John M C]

Thanks, Bill. I appreciate any information I can get at this point in the process!

[John M C]

Thank you both for the response and info. Dagmar, I think overuse is directly related to my level of pain. Jean -Pierre, I will do some research into that area. Thanks again for the information!

[John M C]

Thanks Amanda

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.

[John M C]

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.

john

PS: I may repost my story this weekend and see if any more people respond with there own.

[John M C]

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!

[John M C]

Bill- what specific make and model are you using? I haven’t investigated this option. That may be the way to go as I am already overwhelmed with the number of brands/styles/options/etc/etc of scooters. Seems like I am on my own to figure out what is best so I really appreciate your contribution and advice. The smart drive option definitely sounds like a good idea.

[John M C]

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.