Presenting with Bulbar Onset ALS. Waiting on Neurology appointment. Debilitated by worry!

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Stephanie R

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Jun 11, 2021
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Hello - Thank you for permitting my presence here & for the opportunity to make some enquiries about my symptoms & share my concerns. I am grateful.
I will turn 53 later this year. Please hang in while I fill in the long history. I hope you can be patient while I get to the point.
I have been followed by a wonderful ENT Specialist for over a decade now. I had my 1st episode of sudden onset hearing loss in 2010. My ENT has tried earnestly over the years to decipher these episodes, my hearing loss, vertigo, tinnitus, etc. I have seen him pretty routinely over the years and now have annual visits with him for my ear related issues. Last September I had a total hysterectomy. When I arrived in recovery I was unable to respond to the anesthesiologist or medical staff due to a mouth & throat that were completely dried out. I was utterly parched! (I have had no mucous in any of my mucous membranes since.) Within 2 days of surgery I had glandular swelling (salivary gland/parotid) could not eat or drink without unbearable pain. Hearing loss occurred by end of October. I went into emergency department feeling unwell. The "unwell" was difficult to describe. Fast forward to March of this year. I went to my ENT for my annual visit. When he entered the room he indicated my hearing was "status quo", etc. at which point I said "ok, but let's talk about my nose & my mouth/throat. When he was making observations he mentioned something about my tongue, which I didn't catch. I believed he was looking at my saliva production. He suspected possible Sjogren's Syndrome/Disease & sent me for lab work. Lab work indicated auto antibodies for Mixed Connective Tissue Disease. (Sjogren's is a disease within MCTD's overlap). He wanted to see me for follow up in 8 weeks.
When I returned after 8 weeks, I had developed significant swallowing issues, especially with liquids. (In 2016 I first noticed with just regular swallowing of my saliva my throat made noises, like I had crepitis in my throat. I thought it was just one of my quirks. My voice also went hoarse at random in the middle of speaking). On this visit the ENT looked in my mouth again & remarked something again about my tongue. He went to his keyboard & spoke out loud as he typed "tongue fasciculation". He then went into my throat using a scope. When he removed it, I asked if my throat was constricted (that's how it feels). He answered "no", but that when I spoke the muscles were not properly opening & closing. He made reference to it out loud again when he went back to his keyboard. He then mentioned that he was referring me to a Neurologist that specialized in Motor Neuron Disease. He then looked me square in the eyes, deadpan face. My eyes began to well. He simply nodded & said "Ya". I have a relationship with this ENT & I could tell by his changed demeanour on this visit that he was addressing something serious. Since the visit with the ENT a handful of weeks ago I now have fasciculations all throughout my body. I can feel them in my stomach & lower intestines during bedtime, making it difficult to sleep. Swallowing difficulty is worsening by the day it seems & I have dreadful acid reflux & regurgitation. I have begun to have speech difficulties. I have also had odd jaw jerks & occasionally a swift inhale as though my lungs are misfiring. I am concerned that this is Bulbar onset ALS. I am so scared! It has been almost a month & I have not heard about a Neurology appointment.
I am finding it difficult to keep my fear at bay & am troubled by the lack of urgency being exercised in the follow up. I am grateful for any feedback, reassurance, prayer, enlightenment, symptom confirmation, probability. I am so troubled.
THANK YOU for reading.

In addition, I forgot to mention. I have had a dry unproductive cough for as long as I can remember. I had a bad bout of pneumonia in 2019. In March I developed angular chelitis, I believe as a result of drooling in my sleep.
I'm so sorry for what you are going through. You don't have classic symptoms that jump out at me, but only someone examining you can really say anything much.
It was a bit irresponsible of him to say things like that MND comment out loud when he is not in a position to diagnose you. Of course tongue fasciculations mean nothing at all.

I would follow up with the ENT since you have a relationship with him and ask him why you don't yet have a neuro appointment. If there is a concern about something this serious, you would normally get an appointment fairly quickly, at least be told a date and offered a place on a cancellation list. But that is for you to take hold of following up with your ENT.

Until then, start doing all you can to live your life the best way - eat well and safely, practice things that will help you relax, sleep and feel calm in yourself. Stay away from web searching as you one cause your symptoms to increase and worsen as you scare yourself.
You can't control much, but you can control that. You won't get this time back regardless of any diagnosis or not, so make the most of what you have, and find out why there is a delay.
I agree you should be a squeaky wheel about the referral. I don’t know how things work there. Does the ENT directly refer or do they have to recommend to your gp who then sets up referrals? Either way find out if it was sent and to whom and then call the neurology office. While there is always a wait to be seen pretty much everywhere you should have an appointment date to plan on by now.

good luck. Let us know what happens
Sjogrens has been associated with a treatable MND in rare cases. In such cases, immunosuppressants have improved symptoms. However, a Sjogrens dx would normally be confirmed by more testing than you have mentioned. An ENT is not the specialty to manage either, so I would agree with the squeaky wheel thought.

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