Feeling tired and frustrated

[33andworried]

Hey I hope someone can link my old threads.
Quick progressing symptoms, delay in diagnosis
Finally have appointment


Long story short on symptoms:
12 months of symptoms
Twitching
Subjective weakness in all limbs (progressed from one arm)
Hyperreflexive bilaterally
Atrophy on left forearm and hand

Tests:
Clean Brain and neck MRI (current)
Clean EMG 5 months ago
Full strength scores (current)
34 years old

Just came from the second appointment with my ALS specialist and I'm just feeling frustrated. Had my first appointment 7 months in, had to wait a frustrating 5 months for MRI with subjective weakness getting worse. MRI comes back clean so I was expecting a clearer picture but she still does not think it is MND related. She is sending me for antibody testing related to muscle diseases, said it would be 8 weeks for results and then we could do another EMG. The timeline is just super frustrating, Asked if we could at least do another EMG within the next 8 weeks but she says she would prefer to wait until the 8 week mark as she doesn't think things will change that quickly.

She said if she was pushed she would think BFS but asked her if that would explain reflexes or atrophy she said no. In regards to reflexes she said I don't have 'many' pathological reflexes. Not even sure what I have, some clonus and Hoffman I think.

I genuinely like my doctor and I understand that full strength 12 months in with all these symptoms would point away from an MND but I there also doesn't seem to be an answer to account for my current symptoms.

I guess I'm just looking for opinions whether this course of action would seem reasonable, I noticed on the requisition form she did not choose to do any of the neuro tests (NfL, Igb etc) so assuming she is really not thinking MND but I'm at a loss and I think the idea of another 8+ weeks of wait and see is also what's super frustrating.

Thanks for any help

 

[ShiftKicker]

Hi there-

It sounds like you're getting appropriate attention and are being seen by the exact person you'd want if you're worried about ALS. Yes, the wait is long, but pushing for an EMG just to feel like you're doing something is not going to provide the information you would hope for- the tests the doctor is ordering are where the info lies. The doctor is the person to dictate the timing there, as well the direction of diagnostic search. If she really felt an EMG would turn up new info, you'd better believe she would order one, or conduct one herself in the clinic.

Not having answers is difficult and incredibly stressful. You have my sympathy. It is excellent news that your specialist- the person who knows ALS and is part of an ALS clinic, I might add- does not think it is MND/ALS. The fact she is continuing to order further testing means you will get answers, just not as quickly as you might wish.

 

[lgelb]

There may be no answer. There may be nothing that explains twitching, atrophy and abnormal reflexes.

Just like there is nothing that explains why some days you bounce out of bed, eat anything you want, climb hills, solve problems...and other days, you're struggling to get through the day.

Just like you've probably had some "high" or "low" normal lab results in your life, or some issue that no one ever really explained.

Etc.

It sounds like inflammatory myopathies are being ruled out, which is certainly a good idea. But if you don't have any, and if you don't have a motor neuron disease, it does not mean that:
1) There is nothing wrong
2) There is something wrong
3) You will ever know what/why

Humans have more individual variability than any other species. When something is different and even bothersome, that does not mean that a clinical diagnosis is forthcoming. It is the doctor's job to rule out treatable pathology that is important to your future, not to slap a label that may not exist on issues that are just not key to your health.

 

[33andworried]

Thanks I appreciate both your responses and I'm not here to convince anyone that my fears are right and my doctor is wrong. Its hard being in limbo but I suppose some answers come harder than others, if at all.

I'll try and post updates if/when I receive them. Thanks again for your quick replies