Isolated bulbar ALS in 93 y/o

[AnilKumar]

Hello,
This is my first post.
My mother, 93, has had shortness of breath for 2-3 years. She has had normal cardiac work up and normal chest CT. She was never able to properly perform PFT.
Nine months ago she had posterior circulation stroke and has residual left homonymous hemianopia (blind on left side).
Six months ago she developed trouble swallowing with aspiration and coughing.
Five months ago she began slurring her speech.
Last month she saw neurologist who recommended repeat Brain MRI. This was done and shows no new strokes.
I went to speech therapy with mom on July 2 and witnessed her unable to blow through EMST150 (Expiratory Muscle Strength Trainer 150) on it lowest setting.
I realized she had breathing muscle weakness and began to suspect Bulbar ALS.
I messaged neurologist that day and she ordered EMG but does not believe it is Bulbar ALS.
I cannot get EMG for 6 weeks. ALS clinics will not see her without EMG or referral.
This week she began holding a handkerchief in front of her mouth to catch saliva.
Thanks for taking the time to respond.
Frustrated son

Also,
She now gets short of breath with any walking or exertion.
Her speech continues to deteriorate. She is barely intelligible when walking.
She no longer drinks water because it makes her cough.
2 days ago she cried for 2 hours and was unable to talk during this time.
I messaged neurologist today to see about getting referral to local ALS center.

 

[Nikki J]

I am sorry. What you describe is worrisome but of course we can not see her. Let us know what happens

 

[AnilKumar]

Thanks for responding.
I am a licensed physician, MD, in the state of Florida since 1987.
I am currently retired but have talked to two other Internal Medicine physicians and they both agree it is probable bulbar ALS or what used to be called Progressive Bulbar Palsy.
It is only treating neurologist who disagrees and she has not seen the patient since early June.
We are only waiting for ALS specialist to see if they have seen isolated bulbar respiratory ALS develop in someone at the age of 90.

Has anyone seen this?

 

[Nikki J]

I have never encountered a PALS of any type who was diagnosed in their 90s but the risk of ALS increases with age which is the chief reason researchers believe ALS cases will increase fairly dramatically in coming years ( due to an aging population). It is true bulbar onset is more common in older PALS. It is unusual for ALS to remain isolated to onset area for a long time. However if she has respiratory involvement as well as bulbar symptoms it isn’t isolated bulbar anyway

 

[lgelb]

Not all the terms you used are equivalent, but "progressive bulbar palsy" is a recognized ALS subtype and can quickly manifest in respiratory impairment. The terminology of bulbar vs. limb onset is a bit more prognostic than bulbar vs. respiratory. Bulbar disease does sometimes progress quickly in older women in particular, as you can see in the literature.

Anil, I'm sorry to hear about your mom. Note that any PCP (or pulmo, of course) can write your mom a BiPAP -- it does not require a neurologist just because you suspect a neuro dx -- I presume you have the resources to pay cash -- I always recommend Second Wind -- pending further testing. Given her inability to perform PFTs, her empiric response to that might also be of value diagnostically, besides mitigating her SOB.

If you go that route, I would be happy to help you with settings/titration.

Emotional lability in ALS and related disorders is treated with Nuedexta, and though most prior auths require consult with a neuro, she would qualify based on a dx of stroke + PBA, absent disqualifying cardiovascular conditions and any other interactions. So it does not require an ALS dx for her to qualify.

Plain water is for many the most difficult liquid to process. I would stop offering it and move to juice/smoothies/whatever works best. For some, it's easier to use a large bore straw.

If dairy is irritating, there are many oat- and cashew-milk based products. Citrus/tomato may be irritating as well. There are many good fats/proteins that can be blended into smoothies/soups, such as eggs, pureed meats, milk or alternative dairy, nut butters, applesauce, canned fruits/veg, etc.

 

[AnilKumar]

Mom developed Covid with temp to 102.5 on 7/17 and slumped to floor so taken to ER for IV fluids. She didn't want to go to ER but after being found on floor we called EMS. She was discharged on 7/18. Took Paxlovid for Covid until 7/21 and seemed to stabilize except for persistent cough. Mom saw ALS specialist on 7/25 who confirmed diagnosis and recommended feeding tube.
She flew to Seattle from Orlando 7/27 to be at grandsons wedding on 8/2.
She took one dose pyridostigmine on 7/26 with no help, just caused fatigue and dizziness. Yesterday she said no to feeding tube. Flying back to Orlando on 8/3. Ate small amount yesterday. Spent all day on couch under blanket. She has appointment at Mayo Jacksonville for EMG and blood tests to confirm diagnosis on 8/12, but if she doesn't want feeding tube, not sure if we should still go and put her through 2-3 hour drive and 3 night hotel stay. Not sure if she will make it that long.

 

[Nikki J]

If you are all comfortable with the diagnosis and she wishes comfort measures only I would probably skip Mayo. Does she want hospice or palliative care? You obviously have resources to give her comfort but it is often better to focus on being the child rather than the clinician as much as you can. I know how hard it is to stay in one lane

 

[lgelb]

I agree, I would be sure you understand her wishes -- some people accept one intervention and not another -- and chart a course with her for what comes next. Try to talk honestly about quality vs. quantity of life and what her goals are at this point.

 

[AnilKumar]

Mom went to Mayo in Jacksonville last week and they suspect ALS but want 3T or 7T Brain MRI before committing to diagnosis of ALS due to her age (93). Her EMG including the tongue showed no LMN findings and no myopathy.
Her speech continues to slowly worsen. Most people cannot understand her speech. She is still able to eat solid foods and has not lost significant weight. She does aspirate multiple times per meal. Mayo doctor said it was ok to wait couple months to confirm diagnosis before starting Riluzole.
Her acetylcholine receptor antibody and musk antibody were negative (normal) but her serum neurofilament light chain was highly elevated at 297.
She has 3T Brain MRI tomorrow.

 

[KimT]

Did they rule out MG and other autoimmune diseases such as MS? I guess the brain MRI might give clarification with MS.

I'm sorry you're going through all this, but your Mom sounds determined. If there's any place that can get to the bottom of it, it's Mayo JAX. My ALS doctor is Dr. Granger. He's the third one I've had there. The first two retired.

 

[Racgail]

My mother is 88 and was diagnosed with bulbar onset ALS in February 2024. I believe she started with symptoms of c/o excess phlegm in Spring 2023. Her voice began to change in August 2023. Aspiration began in November 2023 followed by drooling in December. She was progressing fast and was diagnosed in February and started on Radicava and so far, as of today, it has not spread to any other region. She got a PEG tube in April and has gained some weight back. She is on meds and scopalamine patch for the drooling. I am surprised but happy no spreading to lungs or limbs yet, especially at her age.