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Mike001

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Jul 30, 2015
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Learn about ALS
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Country
UK
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UK
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Cardiff
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 Nerve Conduction test. The results picked up Fasciculation's, and the EMG findings had changed since the first one, but at the time it was nothing that concerned the Neurologist. Everything was fine with the NC also.

My Neurologist put me through a load of strength tests as usual and all were fine, she checked over my muscles and said there was a considerable difference between the muscle mass in my calves, (Right being a lot smaller) which is where all the twitching started. But nobody is symmetrical. She said that she doesn't think i have MND as i'm it's rare. She said in 17 years she's only seen 2 ALS patients and that worried me.

Anyway, fast forward to now I am currently waiting on another neurologist appointment. It has been a year and however long and things have progressed slowly over this time. Things that only seemed like minor symptoms at first have now progressed. Such as my breathing, I get out of breath easily, when I lay down I can't breath through my nose sufficiently, my body keeps taking in a gasp of air involuntary. I'm really unsteady on my feet and always sway to one side. I have what I believe is atrophy in my left hand where there is a constant twitch under the muscle in my thumb and also atrophy in the muscle under my little finger where it now just look like sagging skin and there's no bulk of muscle below it, it just creases up and cramps.

The back of my hands are sunk in where you can see my tendons where the twitching is on the opposite side under the little finger. This was only on my left hand, now it's happened on my right side. I have less control of my fingers and they tremor and feel like they want to close up. The bones on my left shoulder are protruding and I have (where the muscles used to be smooth on both sides) dents as if the muscles being melted away in my biceps. (left and right in attached photos) It started in the right, now it's on the left. Also now my right calf is only just a little bigger than my left and the muscle bulk is gone. Just feels like a bag of fluid. What confuses me is the burning, although to a lesser degree than it used to be in my legs, it's travelled upwards since and is from my toes upwards. Mostly over these past months in my hands, arms, chest and neck. It seems as though it burns in these places for however long and then that next area starts twitching.

Alongside all this, for the last few months i've had the usual twitching in my lip that has progressed to my bottom lip and to the side of my face, my muscles under my tongue keep cramping when I yawn, my upper neck and head hurts and fatigues, as if it's too much of a strain to keep my head up, so I often lay down and rest my head and it stops hurting. Lastly my speech is intermittently thick, I have a weird sensation in my tongue and i'm struggling to articulate words.

I know it is a LOT and that's why i've tried to break it up into paragraphs. I've been to my DR's a lot to try and push to see a specialist but I just give up with them. My DR told me "if you can't see the twitching it's fine and you're too young to have MND".. I'm 28 and I know there's a lesser chance, but it's not unheard of. I'm just waiting for this appointment with a new neurologist now and trying to keep faith that this could be something else other than ALS. I am really terrified but I just want a diagnosis now so i can get thing's into place whatever it may be. I just wondering is this too much to be anything else? Does this sound similar to anybody else's story that has been diagnosed with ALS? Please could someone get back to me, i'd appreciate it.

Thank you in advance and again I apologise for writing so much. I just thought I would stay away until thing's got worse.

p.s i've attached photos. Before these photos, everything used to be normal.
 

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Hi,

Nobody here is going to be able to diagnose you. You need to keep the appointment with the new neurologist. Take a copy of the post.

If you think there is something wrong with your breathing, go to a pulmonary doctor and get a pulmonary function test. That could be something totally unrelated to anything else your are experiencing.

Health anxiety is terrible but you really need to let the neuro do his/her thing and believe the results.

I wish you the best.
 
Thank you KimT, I appreciate the fast reply. Yeah I definitely do agree with you, Health Anxiety is terrible and something i've admittedly always struggled with, but it can't account for what's going on with me physically. I do agree mentally though most definite.

The most frustrating part is I have been to my GP's countless of times and they just won't do anything or refer me anywhere! I've had to pay in the past to see neurologist's and for the EMG/NCS etc and I just can't afford it anymore. Last DR said when you can't walk, then come down here and complain. I'm just confused at the moment. it's 8 months until my next Neurology appointment because they've cancelled it 3 times over last year when i've showed up. There is no other way other than private and I can't afford it.

I just wondered if anyone else has anything similar and it turned out not to be ALS or some sort of MND or something else, because I can't find anything that can explain what's going on with me and my textbook DR's can't seem to either.

Thank you again for your reply, I really appreciate it and best wishes to you also.
 
Does anybody know about gene testing and if that would be necessary? I forgot to mention I had 903 on my CK blood results but I don't know what's high and what's not. Went back to my DR's today and they said they have no record of my referral to the new neurologist :( So I'm going to have to save and go private and just take all my records.
 
Genetic testing for ALS genes would not be helpful to you. You have no reason to suspect FALS that you have mentioned. Even if you did if no identified genetic defect in the family testing undiagnosed people is not recommended. Even if you were FALS family and a known gene carrier a positive test would not give you a diagnosis

That CK is high if the UK uses the same scale as the US. That does not indicate ALS and could be from many things including strenuous exercise. What did the doctor say?
 
Thank you for replying Nikki, I understand what you mean. Well my GP was the one that give me the CK results and he said they were high but could be for a number of reasons and he also said that in MND they would be a lot higher. I suffer bad with depression and been housebound for a long time, so excercise isn't something I could put it down to unfortunately. The Dr went on to say it wasn't something he specialised in and I would need to speak with the neurologist. Then put me back on the waiting list. He said he knows there is definitely something going on and symptoms are "telltale Lou gerigs" (which wasn't the best way to put it to me) but everything is out of his field. In a viscous circle at the moment. Thank for replying again, I appreciate it.
 
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