I’m trying hard not to give up, looking for some help

[Mike001]

I hope all are as well as they can be and I’m sorry I’m advance for the long post. It’s been a while and symptoms have just kept on progressing, thankfully slowly, but it’s been a horrific time being in limbo for so long and still left with no answers whilst progressing. To quickly summarise, it all originally started in one hand, twitching and burning, then atrophy. Then to my right calf and foot, then left, then it’s slowly spread throughout my body over years. The twitching, then muscle atrophy, and always accompanied with a dysesthesia (burning feeling) It’s always in the same order and it’s been the same pattern since the beginning of the symptoms.

I’ve had an EMG and Nerve Conduction Study repeated back in 2022 and even though I have fasciculations body wide now, none were picked up, even though the follow up neurologist wrote that he noticed them in his report. The nerve conduction come up with nothing. Previous EMG back in 2018 showed fasciculations, but nothing they were too concerned about. I have depressed reflexes in my lower legs and they said I have muscle atrophy in all limbs, mostly legs, and atrophy on the left side of my tongue. The atrophy is bodywide, but mostly my shoulder blades, left more than right and my legs and hands, but now my face seems to be the final target.

All of a sudden with no warning it’s started to burn and I’m getting a lot of pain with it and the nerves in my head. I’ve been having twitches and noticed a lot of muscle loss in my face over a couple of months on my right side, maybe a year, it seems to be progressing at a rapid pace now and gone over to my left. I’m just really at a loss I didn’t think ALS was associated with nerve pain like this, but I’ve read that it’s not unheard of.

Can anyone at all relate to this? It’s intense itching also in places, along with the burning. I’m just so scared and worried that it could be something hereditary that my little daughter could inherit and I really couldn’t live with it. Even if it is the worst possible diagnosis, I’d take it and deal with it as long as she didn’t have to go through it ever.

I’m sorry for the long winded text, I’ve been fighting myself not to post but I feel alone with it and I’m just looking for opinions or someone with similar symptoms or anyone with advice. I’ve attached 2 pictures (removed), one of me before symptoms started and now of my face. Thanks in advance anyone that can help in any way

 

[ShiftKicker]

Hi Mike,

Sorry you've found yourself back here after so many years. Not having answers must be very frustrating. I'm going to post the links to your prior threads for people to read, as you have a complicated situation, and it's important for people to have everything that's been discussed in the past in front of them. That will help provide more informed answers.

I've never been so afraid! Please help!

Ok, firstly I hope everyone is a well as they can be and thank you for being welcoming. I'll start off with apologising because I feel as if I shouldn't really post on here but I'm driving myself crazy! I'm a 26 year old male, 6'5, 12 stone, and slim (Don't know if that even has relevance) But...

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Things have got worse!

Hi everyone, I'm mike, 26 year old male. Posted once previous. I recently went and had an NCS and an EMG test done on my right leg and right arm. The NCS didn't pick up anything sinister (from the burning I'm getting) and the EMG didn't even pick up anything either (from the twitches I'm...

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Didn't think I'd be back 😔

Hi everyone, I tried to post on my previous link but it said that the thread was closed so this is the reason I've made a new one. I hope everyone is still alright and keeping well. Right, unfortunately I've had to turn to the forum again for help or just to get it off my chest, as I don't...

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Thing's have progressed :/

Hi everyone, I hope everyone is as well as they possibly can be. My last post was a long time ago when I reported having twitching and different burning sensations throughout my body. I have seen the same neurologist 2 times since then and I was also sent for a second EMG last year. The EMG and...

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Progressing more and more

Hi all, i've posted a few time and i've got nobody else to turn to for help or guidance. I've tried to go private for further testing instead of thought the NHS, but it's the same neurologist i've seen previously. I've switched GP's now as well. GP says I need to go to a Neuromuscular...

www.alsforums.com

 

[Mike001]

Ahh thank you for that, I really appreciate it! It really is a complicated situation and not one diagnosis seems to fit the bill, that’s why the last neurologist and my GP are scratching their heads. I just want closure and for my family, so they have answers and I can somewhat rest knowing my little daughter won’t have to go through anything like this

 

[ShiftKicker]

I'm going to go out on a limb and say you still don't show signs of ALS. Others may weigh in about this too, but you would be way more impaired by now, and it would be very obvious to your neuro. You would also show compelling EMG results of lower motor issues by now too after dealing with this for over 7+ years.

It's not clear what sort of conditions your neuro has eliminated, what other recent tests have been done, nor what the neuro's impressions are, as you've only stated EMG/ NCS shows no results pointing to a particular diagnosis. Are they a neuromuscular specialist? What has your neuro stated about next plans or symptom treatment going forward?

This is in no way a dismissal of your concerns and experiences so far, but focusing on ALS is likely barking up the wrong tree. Neuro stuff can be very complicated, and there are rare and unusual conditions out there that can take years to diagnose (sometimes never). If your neuro can't figure it out, you do have every right to ask them what your options are for finding a possible diagnosis. A larger specialty centre or university/teaching hospital is an option. Going private (if you're going with NHS rn) may get you more answers.

 

[Mike001]

Hi again, the last neurologist that I went to was a neuromuscular specialist that specialises in MND and the leading one in Wales, and he said he doesn’t think it’s ALS, but he said until everything else is ruled out, he won’t say it’s probable. But then when I asked what else it could be and what else needs to be eliminated, he said he’s not too sure and he said a lot of the time they don’t have the answers which is understandable, but also upsetting and frustrating. That was a private neurologist and so we’re my last 2 emg’s done privately. The frustrating thing is my GP’s have no route to go down, and neither do anyone else I’ve seen, but I know there is so much more that could be done to rule out other conditions.

Going back to 2015 I had MRI of my brain, I’ve had the EMG, NCS and I’ve had just normal bloods done, gluten, thyroid and heavy metals were done in 2018 and my CK which they said was slightly raised, but not enough to cause concern. That’s what tests I’ve received over the years but they’ve not mentioned any other condition that it coild be that they want to rule out. Only MS that they ruled out with the MRI. They’ve stated there’s clearly muscle atrophy, fasciculations and changes in my reflexes, but they’ve got no plans to look further into anything. Sorry, I just read a letter, they said possible small fibre neuropathy, but that was it. No biopsy or anything to confirm it and as far as I’m aware that wouldn’t cause atrophy, it causes sensory loss and I don’t have sensory loss, and neuropathy is caused by something regardless, so even if it were that, it’s still not finding what’s causing it.

Thank you for taking the time to speak to me, I appreciate it and your replies, I feel alone with it all so thanks again

 

[KimT]

I wish I could offer some help but there are so many things that fit your symptoms, it's just going to take more testing. Did they do a lumbar puncture?

It's obvious something is going on and it may be more than one thing.

I would think the neuro might want to do additional testing and maybe have you seen by some other specialists.

If you have atrophy and they don't think it's neurological, did they suggest a muscle biopsy.

It could even be autoimmune but they would need to more tests.

 

[KimT]

Sorry, we were posting at the same time. Did they suggest a nerve biopsy?

 

[Mike001]

Hi Kim, thank you for your reply. It’s just to have muscle atrophy, fasciculations, and in the way it’s progressed, I can’t find any other condition or cause that it could possibly be but I’m all for it being something else, I really am.

About the lumbar puncture, it’s one thing a few people have asked if I’ve received and I haven’t, they’ve never even brought one up to me, but I’m willing to go through every possible test to get some sort of indication or what’s going on.

My neuro doesn’t know what to do, he’s said I’m a letter to my GP that he doesn’t want to send me for a muscle biopsy because my CK level wasn’t raised enough? I just don’t understand why they wouldn’t just send me for one because that alone could give me answers. I even offered to pay the £2000 it would cost and not go through the NHS, but he doesn’t want to send me for one

Yeah, even with autoimmune, I’d do any test they threw at me. It just feels like they really don’t care. They’re overworked and underfunded

 

[Mike001]

Hi, unfortunately not. No muscle or nerve biopsy

 

[Nikki J]

So ask the neurologist If sfn is in the differential why no biopsy? If autoimmune is a possibility why no autoimmune markers tested?
you have had mris and emgs that didn’t give an answer it is time for a different approach.
unfortunately as we have told you before we can’t diagnose you the testing points away from ALS. As noted some neuro presentations do not yield any diagnosis hard as it is but if they haven’t done all the tests there is likely an answer of at least a clue.

one test that might be sloghtly helpful is nfl. It was experimental but started to be used in Europe a couple pf years ago and in the US last year. It is a general test for neurodegeneration. It doesn’t diagnose anything but if high it would push neuro diseases to the top of the differential

 

[affected]

Wow a really long path, but I'm going out on the same limb and saying that while they haven't diagnosed you yet, ALS just isn't in the picture.
Atrophy without muscle failure is not ALS.
Many things can cause muscles to atrophy, but with ALS the atrophy goes along with the failure, not years and years before it.

I know that doesn't get you closer to an answer, but truly we can't add much more than some great things already written above.

I hope you do get an answer, after 9 years of weird symptoms, some of which have come and gone, you would be understandably very frustrated and looking for answers of any kind.

 

[Bestfriends14]

Mike, what makes you unable to let go of of thie fixation on ALS? Nearly 8 years you've been coming to the forum. 8 years! Good grief, you really must speak to someone about this. I'm not saying this to be cruel, but you've spent almost a decade of your life on a disease you don't have. Why? You will never get this time back.

Do you want to reach a decade of this fear? Only a professional can help you get past this, but it will take determination and wanting to get better. You have to actually want to, or speaking to someone will be a waste of time.

Please, for your own good, talk to someone who specializes in nosophobia disorders. This disorder can be overcome.

Best of luck to you and take good care