Recently diagnosed Bulbar Onset Motor Neuron Disease

[Serenity]

Greetings to all. I have been following this Forum for a few months, and finally wanted to share my story. I will try not to make this too long .

This all began a few days after a Covid Vaccine back in October 2024 ( Nuerolgist does not feel it is related, but the timing is pretty coincidental, and I did report it to the CDC). I started having difficulty with my speach - slurring words, and just strained more to get words out.

November 2024 went to see my Primary Doctor, and he wasn't sure, and referred me to ENT. I also then was having a bit of difficulty swallowing pills. ENT doc stuck a scope down my nose and looked at my vocal cords, and didn't see anything unusual there. He noticed in my past history I had PMR, an auto immune disease, and felt it could be related to that, so suggested I go back to my Rheumatologist. I also then started experiencing jaw tightness, and left temple pain.

End of November had a temporal artery biopsy, Rheumatologist concerned it could be Big Cell Arteritis, but that came back negative.

Early December had lots of bloodwork done, she also thought possibly Bulbar onset Myasthenia Gravis, but bloodwork negative, so she also ordered a Brain MRI, and referral to Nuerolgy. The brain MRI came back normal, except for enlarged pituitary gland ( no tumor), but that had been found in an MRI a couple years ago, and they were not concerned.

End of December still no response from Nuerolgy, and with the symptoms ongoing, was told to just go to the ER, that it would be months yet before being able to see a Nuerolgist, and that I could be assessed by a Nuerolgist that way. SO, was seen by a team and had many tests, including a swallow study - I also now had some left side facial drooping. Swallow study showed, while no aspirations, was quite difficult for me to get a pill down. So at this point, definitely diagnosed with Dysathria and Dysphagia. Lyme's disease test negative, and all other tests for auto immune negative. I was released, but would be scheduled outpatient for EMG/ NCS test, and appt. with Nuerolgist-Nuero Muscular Specialist.

January 2025 - EMG/NCS test negative for anything, but after appt with Nuerolgist, she was very suspicious of Bulbar Onset Motor Nueron Disease - either ALS or PLS. She ordered another Brain MRI to also include face and neck, ALS genetic testing, and NfLc testing.

February- follow up with Nuerolgist. ALS genetic testing negative, MRI showed nothing more. Only test "abnormal" that came back was the NfLC (nuerofilament test) - came back a little high at 64, normal for my age is under 20. SO, at this point she did officially diagnose me with Bulbar Onset Motor Nueron Disease, either ALS or PLS, and I am just in this "limbo stage" while we wait for any other symptoms to start - which I pray I will be slow progressing, and stays upper nueron, but is unknown.

As of now, voice has definitely gotten worse, esp. when tired, and I just have to be more cautious swallowing pills. I am waiting for word from the ALS clinic ( at the same hospital my Nuerologist is at (UW Hospital Madison WI), she is also the Medical Director).

I have read that it is always best to get a 2nd opinion, does anyone feel I should pursue that still ? Or since I'm seeing someone who is a specialist in this area already, and will be seen at the ALS clinic, that I'm already in good hands.

I have not been started on any other meds yet ( had been prescribed an anti depressant, but could not handle the side affects - I am very sensitive to medications - so just trying to handle the emotions of all this on my own at this point); added curcumin/tumeric; Taurine, a multi vitamin, and doing accupuncture, which has helped me a lot - until I get started at the ALS clinic. Otherwise my next appt with my Nuerologist is in June.

Sorry that got so long, just wanted to be thorough. Trying to stay as positive as I can, & just take things one day at a time. You all have been an inspiration to me, and I pray for a cure for us all soon.

 

[lgelb]

Are you saying your neurologist directs the ALS clinic at UW or did I misunderstand?

To diagnose MND after a normal EMG on the basis of NfL seems odd, especially if bulbar muscles were tested. There are isolated bulbar phenotypes that have a more favorable prognosis but you have not described how they usually present, and with your history of PMR, the odds seem much greater that your issues relate to something already known.

If the dx of PMR is relatively new and you have not used steroids for it or they haven't helped, I would be seeking a second opinion on the PMR itself, honestly. It can be confused with other inflammatory disorders so I would just want to be sure.

Can you post the de-identified EMG and any chart notes suggesting how the MND dx was made? To answer your question, off the top you would always want an academic ALS specialist to confirm the diagnosis. I guess I'm not clear from what you've said whether that's already happened, but either way, a second opinion in Chicago wouldn't be the worst move.

 

[Serenity]

Yes, the Nuerolgist I see is also one of the Directors of the ALS Clinic from what I can tell online.

I had the PMR auto immune disease a few years back, was treated with predisone, and I have been in "remission" , if that's even the right word, and off the predisone for a couple years now. I attached the test. I will send the Doctor's note separately, need to go in My Chart. Thank you !

 

[lgelb]

So you did have bulbar muscles tested on the NCS and EMG. Do you still have the facial drooping?

 

[Serenity]

Sorry for the delay responding, and hopefully I'm attaching the info correctly- not real tech savvy. Attached are from my office visit with Nuerolgist.
And yes, they did test the Bulbar muscles on the EMG/NCS test. And I have some facial drooping yet, left lip, and right eye lid, so weird on both sides, so I assume muscle weakness.
Again the Nuerolgist I see specializes in ALS, and I mentioned possibly this being auto immune related, even though blood work negative ( which I read can happen in 15% of cases), but she did not feel it was that)...
Thank you for your time, and responses.

 

[Serenity]

Attached

 

[Nikki J]

Attachment didn’t take unfortunately.

It is always worth a second opinion both to confirm the diagnosis ( everyone can be wrong once in a while) but also to get a different perspective on how to approach things.

 

[Serenity]

Not sure why I can't get it to take. I'll just type her comments :
" Right handed woman with past medical history of PMR presents with subacute progressive dysarthria and dysphagia since mid October 2024. Her nuerologic examination is notable for facial asymmetry and bilateral weakness of cheek puff, moderate spastic dysarthria, slow spastic tongue movement, and positive palmomental reflex. Findings localize to the upper nueron affecting solely the cranial innervated muscles.
Myasthenia gravis panel was negative and dysarthria more spastic than flaccid, also no fluctuation or ocular symptoms to suggest a disease of nueromuscular junction.
Exam findings and progressive worsening are concerning for motor nueron disease spectrum affecting the bulbar muscles. Differential includes bulbar onset ALS, PLS, or progressive bulbar palsy."

So, all pretty scary stuff.... And even though this is starting Bulbar, I've read a few posts, esp. from those with PLS, that progression can still remain slow, and even plateau at times, but others who declined pretty quickly. I realize every case is different. This "limbo" is what is most difficult, but again, just praying for the best outcome.

Bless you all !

 

[IreneD]

If I were you, I would be concerned that with your progression you will reach a point where you can no longer swallow food. My husband started having symptoms in Sept 2023 (slight slurring), diagnosed in December by ENT and by now his speech was definitely impaired. He was encouraged to get a feeding tube sooner rather than later due to weight loss and his swallowing ability. He had the feeding tube inserted in March 2024 and certainly by September 2024 (and maybe earlier), he could no longer swallow or speak. He died a couple of weeks ago, but we certainly would have lost some good months had he not had the feeding tube inserted when we did.

 

[busy bee]

I advise a genetics testing. Kinda sound familiar but no Covid shot.,Second opinion did genetics testing found the type of motor neuron and how to treat it.

 

[Serenity]

I am so sorry for your loss Irene. Luckily I am doing fine yet with swallowing food, but will definitely keep that in mind.

And thanks Busy Bee, I did do the genetic testing as well, and all came back negative. So we still don't know for sure what motor nueron disease variant this is, other then no lower nuerons affected yet at this point.

What makes this all so tough too is that I have been my husband's primary caregiver for over 19 years now, due to a head injury. He has come a long way over the years, but still has cognitive deficits, so I am with him for all his Dr appts, etc. I have just been going to all my appts thusfar alone.

So praying for a slower progression here, but I have of course informed both our families, that we both may need help depending on how this goes.... I'm still waiting to hear from the ALS clinic yet, my next appt with my Nuerologist isn't until June, unless I get in with the clinc sooner, since she is part of that group. (I'll definitely have a sister come with me for that).

Thank you for your support.

 

[Serenity]

Just heard from the ALS/MND clinic, and they had a cancelation for this Friday, so will be going for my first one ! Again my Nuerologist is a part of this same team, so will start getting all my Q's together, and ask if a 2nd opinion, outside this clinic, is warranted or not. I would hope already working with a nueroligist who specializes in Motor Nueron disease, that she would know her stuff. Again, even though my bloodwork has all been normal for bulbar myasthenia gravis, I still have in the corner of my mind, if there is a remote chance it could be that. Time will tell...

 

[Serenity]

So, my first multidisciplinary clinic appt went pretty well. Still limited to bulbar symptoms with speach getting pretty rough but still " intelligible " they say, being more cautious when swallowing pills, eating food still ok, etc. The Nuerolgist still feels this is Bulbar Onset Motor Nueron Disease, but exact variant not able to be identified yet.

I did tell her I would like a 2nd opinion, and she was very understanding of that, and put in a referral to the Mayo Clinic in Minnesota. Has anyone ever been there to receive a 2nd opinion ? How does the process work ?

She also prescribed Atropine drops to use under my tongue, for the excess saliva, which works quite well.

My breathing is still ok, but a bi-pap machine has been recommended to use at night, even though not needed quite yet, but good to get used to using it I guess. I told the therapist I would get back to her on that, or consider getting one ordered with the next Clinic session, which I believe will be in 4 months, waiting for that to be confirmed.

Anyone out there with only Bulbar symptoms and no confirmed diagnosis yet on which Variant of MND ?

Thank you, and hope everyone is doing as well as can be expected this evening.

 

[swalker]

I have been to the Mayo Clinic on Minnesota. That was about 13 years ago. It was not for a second diagnosis, but at the very early stage of having neurological symptoms.

My experience is that they test a lot. They repeated every (I think) I had before getting there and added quite a few more.

The folks seemed very competent and their systems for moving people through their organization impressed me quite a bit.

I am sure someone will be along with a more recent experience.

Steve

 

[Serenity]

Thank you Steve, appreciate it.