Undiagnosed still after 2.5 years: your advice please knowing how tricky ALS can be

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Sayitisntso01

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Oct 3, 2022
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Learn about ALS
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Country
CA
State
ON
City
Toronto
Hello everyone,

- first, my sincere thanks for taking the time to help me.

- I’ve read everything there is to read about ALS over 2.5 years and I have the greatest respect and compassion for pals/cals

- I’ve been suffering ALS-like symptoms that are internal for 2.5 years and multiple EMGs and neurological assessments from 3 different hospitals have been negative

- Neuros are unable to tell me what it could be. They are dismissive.

- please please read on

- like I said, I’ve read so so much on ALS that I’ve clearly seen (what many of you may know) that ALS can fool many doctors even ALS doctors and can be very tricky.

- I’ve also read online that 40% of patients get a misdiagnosis where they have ALS but are either not diagnosed with it or diagnosed with something else first. I’ve read of some patients passing away before being diagnosed.

- so I would be very appreciative if you could give me your advice on next step and if possible answer some questions please.

- I know you cannot diagnose me but if you feel it still looks and sounds like ALS please let me know if you can

- I also know you are not doctors but from all the forums and patients sites I’ve read pals and Cals I think at times know more about ALS than doctors do

- I will set my questions just below and then will set out my myriad of symptoms further below.

My sincerest thanks as I am suffering greatly.

QUESTIONS

1- are there some forms/variants of ALS that can go undiagnosed for more than 2.5 years after multiple EMG and Neuro assessments?

2- can some forms/variants of ALS lead to fecal incontinence (loss of control of bowls) and soiling oneself

3- in reviewing my myriad of symptoms, do you believe ALS could still be a possibility?

4- what next steps would you recommend I take?

SYMPTOMS

- 51 year old male
- had lost 20 lbs at onset and have since eaten hunk food ans gained 35 back
- progressive symptoms 2.5 yrs
- genetic testing negative
- lumbar puncture @ 6 mths negative
- general fatigue
- body-wide fasiculations
… incl. 24/7 left thigh fasiculations
… eyebrows, lips, shoulders, arms, back, bum, legs, feet (multiple daily)
- mild difficulty swallowing
- Mild oesophageal dysmotility
- severe oesophageal reflux
- mild dysphagia
- thick post nasal drip constant
- forceful clearing throat of phlegm
- large dry crud in nose constant (never had that before)
- mucus thickening in sinuses (chronic rhinitis that wasn’t there before onset)
- difficulty swallowing thick mucus
- mucus plugs always deep in back of throat
- periodic clicking sound coming from inside mouth or throat
- trace opacification of mastoïde
- crackling sound from throat when breathing
- gurgling sounds in throat
- squirting sound noises in throat like squirting saliva
- uvula doesn’t rise properly with “ahhh” sound
- O2 levels from 99 to 95
- palette tastes and feels odd
- lung test: low diffusion capacity 58% of predicted
- low vitamin D
- low vitamin B12
- very bad startle response
- muscle wastage on bum (now painful to sit in bathtub)
- muscle wastage on left thigh/hamstring with a long crevice now delineating thigh and hamstring and slight indentation on left thigh
- muscle wastage on side of left pec
- all neurologists dismissed muscle wastage, some attributing it to age (there was no muscle wastage before onset)
- hamstrings increasingly wobbly and shaky when kneeling. Can only kneel for a few moments.
- EMG:
… MUP AMP left thumb deemed within normal limits where previous EMGs of thumb were normal
… polyphasic MUPs left thigh and tibia deemed within normal minute where previous EMG of thigh and tibia were normal
- Nerve conduction study: degradation of digit 3 left hand but deemed normal because below 10%
- Myoclonus jerks (hypnic jerks)
- one neurologist detects hyper reflexes
- terrible fecal (bowel) incontinences
…. Now go to washroom 5-10 times a day
… urgent: can’t control bowel movements
… sometimes soil myself
… small pebbles and explosive liquid comes out
… can barely go out now. This all started this bad about 7 days ago
- bad memory loss (cognitive changes)
- bad neuropathic pain in both triceps and hamstrings
… at times triceps so painful that putting on/off a short or jacket leaves me teary-eyed
- drooling on pillow when sleeping
- sleeping with mouth open for first time ever in my life to catch more air
- strange Crystal-like sound in brainstem area
- MRI of brain stem negative
- MRI negative for MS, stroke

SYMPTOMS I “DO NOT” HAVE

- these are some ALS symptoms i do not have:

- I do not slur or have nasal speech
- I do not have noticeable muscle weakness
- I do not have muscle cramps
- I do not have mobility issues
- my tongue seems ok with no twitching
- I do not have tight stiff muscles
- I do not trop or fall
- I do not have major difficulty doing normal activities although I tire quickly and don’t do them as easily as before at all
- my hands are not weak or clumsy
- I do not laugh or cry inappropriately


My deepest sincere thanks for helping if you can. I’m struggling tremendously with my symptoms. Several neurologists have provided no explanation for these symtoms. Thank you for answering my questions aviné if you can or commenting as you wish.

Sincerely

AJ
 
gosh that was a thesis!, and that is nothing to do with ALS.
I didn't see anything ALS in there, not even a tiny bit.
Pretty much I would say no to your questions.
All I can recommend is that whatever your doctors are advising is going on is the path you should follow instead of self diagnosing the worst thing you can imagine.
The bowel issues are probably what you should follow first with a gastroenterologist.
 
Sincere thank you for your time affected. Sorry for the thesis. And yes I thought possibly I was experiencing secondary symptoms and not the primary there falling under the radar but I hear your. Problem is Neuros are saying to much on what it could be. Vague. Hence that’s unnerving when you think you have many secondary als symptoms. Thanks for taking the time affected. Very kind of you.
 
Wow, is it ever clear that you have major worry about this disease, yet you dont evidence having it at all. You have no ALS symptoms, either primary or secondary. It would be highly unusual, almost impossible, for an individual to have seen as many neuros as you have seen, yet all of them missing you having ALS; it's not likely at all, hence you should believe them.

In the case of ALS, if you had mucous plugs, a professional would have detected it. Mucous plugs are horrible, debilitating, and frightening. It is not something a professional would have missed.

Please keep working with your docs. Best of luck to you.
 
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Thank you beastfriends14. You are very kind. Yes I’ve been extremely worried I’ll admit. I’ve read probably too much that I challenge assertions I guess. Like twitching, muscle wasting, increased secretions, neuropathic pain , incontinence which I’ve read on your site and other are all als symptoms so I ask doctors who are mine not. No response. I’m thankful you took the time to reach out to me. Heartfelt thanks

And sadly I’ve read of many stories where patients see up to 7-9 doctors including als doctors before diagnosis. That doesn’t put a lot of faith in me in the als medical community hence why I admit I’m worried about how I feel overall like crap and all these symptoms. Again good I’m thankful you chimed in.
 
If you have vitamin D/B12 deficiencies, addressing these and looking to identify their causes should be helpful. I would think your internist would refer you to a nutritionist (dietician) as well as gastroenterologist.

If your DLCO test was abnormal, that would suggest a consultation with a pulmonologist, who might also order an at-home or laboratory sleep study to rule out sleep apnea and other sleep disorders.

I agree there seems no reason to think of ALS and if you think there is, you have misread or misunderstood what you have read. Do not hold your life hostage to this misunderstanding. Address the real problems that are in front of you.

Best,
Laurie
 
Dear Laurie I’m also honoured to receive your reply and time. I’ve held my life hostage because I feel so crappy and saw things I read like twitches,swallow issues, secretions,pain. My life has been hold for years. Thank you for your insight. I saw the pulmologist today who close the file. I will look into a sleep study. If you and others feel confident that idi t have a rare under the racer variant that will shock us all soon enough then I will try to relax. I still don’t understand why a twitch full body , ça t swallow well, have terrible phlegm and terrible pain but I will put my faith In forum and try to relax. Heartfelt love thanks
 
Wait on - find it unnerving because you think you have secondary symptoms. I said whatever is going on has NOTHING to do with ALS.
I suggest you find out why you are soiling yourself as that was simply the only concerning symptom I read in that huge post.


We can't help you here.
3 senior members have clearly answered, so it is over and out.
 
Thank you affected. That was poor use of English. The term “you” was meant as a third part but really referring to me not you. It was clear to me that you thought I had neither primary or secondary symptoms. That was very clear. I was saying I thought I did which was unnerving. I’ve read a few sites that claim decal incontinence can occur in als which was another reason I got unnerved. Thank you again for taking the time. Very compassionate of you. I’m grateful.

Thank you. Please know I didn’t mean to offend in any way. I eas just trying to understand who certain key symptoms could not be linked to als when taken together such as body wide twitching daily and often, muscle dents crevices, muscle nerve pain severe, trouble swallowing etc how that could not be linked to als. They are all listed as als symptoms. That’s all I was trying to understand and I apologize if I overstep. Sincere apologies and sincere thanks for responding.
 
Try reading our sticky post which we have made very clear is our official position. It's not a matter of apologising for offending, I have a pretty thick hide. I'm just trying to point out that you are doing this to yourself.
It answers all the stuff you just posted as a response to me concerning incontinence, dents, twitching, pain etc etc
You can search and prove us wrong all you like, but we won't change our position because we know ALS.
Please stop posting and work only with doctors.
 
Just saw this. Thank you. Will do. AJ
 
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