In trouble but nobody believes me

[Brian1632]

I’m in trouble, deep down knowing I have ALS but it’s not clinically measurable yet for a diagnosis. I’m well past the anxiety phase but am just worried about my two toddlers and wife not having me around.

Here’s my story and why I’m so frustrated. Looking for advice here on next steps and what you think.

September - started with facial twitching (under eye) and became wide spread after two weeks. Within those first two weeks, my right calf and foot started to get a tightness that I couldn’t stretch out.

Over the course of the next 3 months, that tightness turned into burning neuropathic pain, loss of dexterity in toes and extended to my back and then down my left leg.

Now at 5 months, my twitches continue through my body, I get quickly fatigued and legs burn as I go up stairs or do any type of movement to be honest. I can still move all fingers and toes, but they feel tight. Hips feel tight and butt / lower back feels weak. My hands have tremors, my pinky fingers are stiff and the left side of my throat feels tight and sounds like a hoarseness is starting, obviously as the symptoms progressively built over the last 5+ months, im concerned.

Here’s the thing though; and why I’m stuck and frustrated……. Had an EMG that was normal at 4 months of symptom onset (early February). NFL plasma was within normal range. No LP done yet. I’ve had every other test imaginable over the last 5 months and ruled out everything. MS, Lupus, Lymes, MG, MMN, etc.

I’m being treated at a COE in PA and despite my symptoms they don’t seem worried about ALS but it’s not ruled out. I know it can be too early in the disease course to have findings on EMG and NFL climbs over time (waiting for my new NFL level this week) but I continue to be pushed off. I have done PT, CBT, Cold plunges, saunas, supplementation, bloodwork and testing out the wazoo and even trying to get to a naturopath for therapies. My wife continues to say it’s all anxiety related and discounts the way I physically feel which is tough for me. (She’s a nurse so it’s her job to basically look at diagnostic evidence versus “feeling” if that makes sense)

John’s Hopkins won’t see my despite my referral because my EMG appeared to be normal. My follow up with my local ALS COE is in 45 days but I’m getting worse with waiting.

Weakness is not clinically measurable at this time but I feel as though it will be as time goes on.

I’d kindly like to hear your thoughts, or questions I should bring up to my doctors to try to get this ball rolling. If it’s not ALS; then I figured my neurologists would have at least diagnosed me with something over the 6 months I’ve been symptomatic.

 

[ShiftKicker]

I have changed your status to reflect your current situation. Before, you had stated you were a PALS and posted another thread as if you had ALS, which is not the case.

You have an appointment in 45 days. In the scheme of things, this is not a long time to wait. Completely understand that it seems like forever, but allows for the doctor to track any changes since the last time you saw them and can provide diagnostic info.

Your testing has not shown ALS. You do not report the hallmark symptom of clinical weakness. Focusing on ALS could delay any diagnosis, as the push would be to eliminate ALS instead of exploring all possibilities. Reading your post, you report non- ALS symptoms, so these would also have to be taken into account in order to find the correct diagnosis. Please let your doctors lead the direction of inquiry.

Some links:
Information about ALS and answers to many questions that bring people here, as well a partial list of conditions that share some symptoms with ALS.
Read Before Posting

Some tips on what to bring to appointments, record keeping, etc.
Getting a Diagnosis

 

[lgelb]

Nothing you have reported points to ALS. Much points very far away.

This prodrome you perceive where failure is about to occur, isn't what PALS here have found. Motor neurons can't feel. But muscles can fail. Facial/eye twitching very often relates to dehydration/fatigue/stress, which with all the diagnostic/therapeutic activity you report, would hardly be surprising. The same for fragmented sleep, which can affect daytime issues in a major way.

Your wife knows your physical baseline pretty well, so if she's not concerned, that's a very compelling reason not to be.

I'd focus on strategies for pretending you never heard of ALS, drinking a smoothie, and getting some sleep. Instead of amping up for a diagnosis, it seems time to detach from your fears (some counselors focus on health anxiety, specifically) and explicitly walk away, toward the healthy life with your family that I am sure you'd prefer.

 

[Brian1632]

Hello there and thanks for your response. I just had some alarming and elevated bloodwork and wanted your thoughts.

NFL increased from 4.3 to 8.4 in 1 month. (SIMOA). That’s a very fast increase despite being in normal limits.

CPK also increased from 70 to 165 in the last two months.

I’m very concerned giving these new findings. Your thoughts or anyone else’s are appreciated! Waiting to hear back from Neuro on next steps. I realize these aren’t specific to ALS but it’s gut wrenching given my symptoms and progression.

 

[lgelb]

You have been through a lot of intensive "therapy" like the cold plunges, supplementation etc. that I suspect is new to your body. Therefore, it's not surprising that lab values would change. You may even be making whatever this is, if anything, worse by putting extra stress on your organ systems.

I would follow the neuro's advice on next steps and return to primary care as indicated.