12 months struggling, still no diagnosis

[Mama Unicorn]

Hi, my husband has some neurological problem, as yet undiagnosed. His legs feel heavy and stiff to move, particularly walking up stairs or slopes, he says it is like wading through chest deep mud. There is no pain as such just an almost physical resistance. Like he is wearing a lead suit.
He doesn't seem able to lift his feet up properly and catches them on steps leading him to stumble, he finds crawling up the stairs easier, he has twice fallen getting out of the shower as he has been unable to raise his foot high enough to step over the lip of the shower tray.
He gets very breathless on movement and this can, on more exertion, lead to palpitations.
He has been assessed by a psychologist who said he was clearly unwell, but was mot suffering from anxiety, stress or depression. He said he needed to see a neurologist ( who sent him there in the first place)
He has had an MRI which showed nothing, EEG eliminated any forms of Epilepsy, Neuro doesn't think it's Parkinsons, so we are feeling quite bewhilered!
His face has episodes of twitching in the cheek and at times paralysis, where he cannot smile, and his speech becomes slurred or unintelligible when this happens.
He is/was a Folk singer and Also recently has complained that he has too much saliva in his mouth making it difficult to sing and he coughs/chokes regularly.
The question that I want to ask really is that all of his symptoms are not constant, they are intermittent, some days he is able to do more than others, some day he can barely talk, raise his arms, walk etc. The more tired he is, or if he has been concentrating say for instance on driving for about half an hour, the worse it is.
He was a Plumber and Donestic heating engineer by trade, self employed, we have had to wind the business up, as he cannot sustain physical activity for more than about 20 minutes at a time and needs about 2 hours rest before he can walk/ do anything again. Is this typical of ALS or do people have constant symptoms in the beginning? It says in the preamble to this section it just stops, period. And so I may be asking a silly question, but I am just trying to find answers. I hope that I am not being disrespectful to anyone by asking, and am sincerely grateful for any feedback. Cheers .

 

[Nikki J]

Hi
You live in such a beautiful part of the world.

It is a little complicated to explain. When you lose a muscle the function performed by that muscle won't come back if it is ALS. They are gone. A lot of things though can be compensated for, at least partly, by other muscles. This compensation can be less efficient when the body is stressed/ fatigue, illness etc. does he get better as in fine? Or just not as bad?

Was MND discussed at all with the neurologist? Does he have clinical weakness? Abnormal reflexes? Is more testing planned? From what you describe he has an issue that needs diagnosing it may not be MND at all but the doctors should be looking further

 

[Mama Unicorn]

He doesn't get better as in fine, we are a year down the road since in his words it hit him like a freight train. Looking back to a year ago, he is a lot weaker, slower he seems to move in slow motion, he winces at the effort he puts in to moving, he says it's not painful just the physical effort is huge.
Doc and neuro have never suggested MND or ALS.
He has altered reflexes, I have had so much to take in I cannot remember it all, and his cognitive skills are such now that he doesn't remember so well. I agree it may not be ALS but it sure as hell IS something! I feel like I am losing a little more of him each day and so wish there was something I could do to help him!
Thank you for your response Nicki

 

[Nikki J]

Cognitive can go along with mnd- and other things of course. I realize dealing with the nhs can be challenging but it sounds as if you need to advocate for him. If the neuro is not pursuing this then can you enlist his gp to help get you to someone who will? From what you describe an emg and perhaps neuropsychological testing should be considered. Did the psychologist not note cognitive issues? If that person ruled out psychological issues as the cause can they help as well?

 

[KimT]

I would ask the neuro for an EMG. That way, mnd can be ruled out or further testing might be required.

 

[Mama Unicorn]

Hi, thank you all for your replies. I really appreciate you taking the time to help. The NHS is a difficult road to tread. We are on our 3rd nrurologist, which has made it difficult. The first one, at the beginning was very dismissive and sent him to the psychologist saying it was anxiety. We then asked for a second opinion, saw a lovely chap who listened, was very supportive, did EEG, MRI and then he left. He apparently was a locum, the last letter regarding the EEG results was from a new Neuro who has taken over from the locum. Not seen him yet, but the feeling of being passed from pillar to post makes things much more stressful. I think you are right, asking for EMG test would be wise. We don't keep going to the GP as there is little he can do to help, in fact he has issued 6 months worth of sick notes now without seeing him. I think perhaps a visit so he can see what he is like now may be pertinent too.
It's so frustrating and feels a very lonely road we are treading here. I will keep you all informed of any outcomes. Thank you again x

 

[WendyWooG]

Hi,
Your GP can do a lot to help in pushing for a reduction in waiting times. The hospitals take a lot of notice of them. My GP turned herself into a total nagging machine, I was bounced around a lot but she was continually chasing them and sending me in to acute care so I got the mris cts EMG etc before I even got to my neuro. She also managed to get my 3 month wait for my neuro appointment reduced to 3 weeks once my EMG result came in because she didn't understand the results. The report contained lots of nasty phrases like " unfortunately " and " I am afraid that " and she wanted answers.

I hope you can get your go on board to help you. Good luck

Wendy

 

[Mama Unicorn]

Hi, I had felt that our GP was useless, that he had dismissed my husbands illness as depression, but I decided to take my husband in to see him yesterday. He was visibly shocked at his deterioration. Asked where we were at with the neuro, when I told him we were on our 3rd one, a year down the road, no progress and the new neuro asking for tests that have already been done before he decides if he needs to see him. My GP said he definitely needs to be re assessed, that there was some neurological thing going on and that it needs further investigation soon! Do we are at least moving forward. On the down dide, his walking, talking, arm movements and speech are all so bad we have decided to cancel our much looked forward to weekend away we planned for this weekend it's just not practical right now!. Gutted!