Undiagnosed nerve/muscle condition

mikey001

Hi everyone, I hope all are as well as you can be. This will be a bit of a long winded message but I’ll try and simplify it as much as possible. 

Basically I’m hoping someone can relate or shed a bit of light onto these ongoing and progressive symptoms I’ve been having since 2014/2015. 

From what I can remember it all started with a sort of numbness feeling in my left thumb, it just felt like the surface of the skin was slight altered in sensation, but not completely numb, then it started itching and spread on to the back of my hand. Over the next few weeks to months it started in my right foot and travelled up my calf and I noticed small fine muscle twitches. Then it started an intense burning pain that felt like sunburn, now this then spread over to the opposite side on both hand and feet and travelled upwards over the next few years and now it’s all limbs, throughout the trunk of my body and now it’s progressed to my face. 

I have muscle wasting where it twitched and I have the burning sensation and it’s followed the exact same pattern throughout my body. I have body wide muscle wasting, burning and fasciculations from my tongue, all the way down to my feet. It seems to be the burning, then atrophy of the muscle and followed by twitching. Over the years I’ve had MRI’s, blood tests, EMG’s (I’ve had a one recently which was clean) so they said it was not ALS, I’ve had nerve conduction studies which showed nothing that indicated demyelination, but whatever is happening is progressing, progressing slowly, but still progressing and I have been in limbo all these years with no answer and drs/specialists don’t know what to do with me. I’m really at a loss right now.

I’m just wondering if anyone has been through anything similar or could offer any help or advice? They told me it’s possible “Small fibre neuropathy” but aren’t willing to do any testing to find out it seems. They told me “come back when something stops working” which wasn’t very helpful or reassuring. I just don’t know what to do and I’m so scared that it could be something hereditary that my 3 y/o daughter might get. I just couldn’t live with myself. I just want answers for my family and for myself. Sorry for the long message, and thanks I’m advance for any help and advice!

chiarieds

Hi @mikey001 - I'm sorry for all you're going through, & with no clear explanation. Hopefully if someone has experienced something similar they will reply. However, in general, we can't give any medical advice. Would it be possible to ask your GP for another referral to see a different specialist to see if they can shed any light on the problem?

Sandy_123

Hi @mikey001 and welcome to the forum.  I can understand your frustration if drs can't pin point what is wrong.  Have you tried a different gp for a second opinion and a referral to a different hospital, might be worth a shot.  Altho it sounds like you have exhausted all other avenues.

mikey001

Hi both, I’m not too sure on how to reply to people individually so I’ll try to reply here. I’ve seen 3 separate neurologists, and one a few months ago that specialises in neuromuscular disease and the leading one in Wales, and I’ve seen a few different GP’s, I’ve went private and still I have no answers. They can’t see anything that’s a “cause for concern” but the change and the progression for when it first started is awfully noticeable, but then it’s happening to my body, I’m going to notice it a lot more. Small changes have been found on my EMG studies on my muscles, and slightly elevated CPK levels, but nothing that they think is enough to give me a diagnosis. The could get a lot of answers from doing a nerve or muscle biopsy I’ve been told but they won’t do one because they don’t feel it’s needed, I’ve even offered to pay. It’s really frustrating

chiarieds

Replying as you have done is fine, but if you want to reply to an individual you just put @ in front of their username as we both did with yourself, i.e. @mikey001 For me it would be @chiarieds

Must admit I've lost count of the specialists I saw before I worked out what I had, then sought appropriate referral to confirm my diagnosis. But, it will happen for you too. The way forward may be to push to see another appropriate specialist even out of your area.

Starlingbird

Hi @mikey001. I am really sorry to hear about what you are having to contend with. Although I can't help with any info about your condition, I would strongly suggest that you keep ploughing forward and don't give up trying to get a diagnosis.

I have had a couple of conditions where I was getting no where with my GPs or consultants, but did eventually find out what the issues were. I won't bore you with the ins and outs, but one was rectified by dietary changes (that allowed me to cancel an operation, which could have made things a lot worse), another was diagnosed and eventually managed by me seeing a different consultant (I was in terrible pain and a GP actually said "Do you not think you might just be thinking about it?"). I researched online, then read up and enquired about the consultant I eventually saw (otherwise I wouldn't have got to see him). 

I wish you the best of luck at finding out what's going on with you.