ALS Bulbar Onset: Diagnosed September 12, 2023

[jjanesth]

Greetings all,

First of all, thanks for creating -and maintaining- such a quality site that provides so much value and information. I have been using the site since June as I was going through my work up.

By way of introduction, I am 59 and received the diagnosis of ALS: bulbar-onset at a university ALS clinic in Southern California. Prior to that I had local visits to a neurologist who seemed reluctant to diagnose me with ALS because my EMG findings were equivocal due to lack of ‘fibrillation’ signals at rest. I was told by the university ALS specialist that EMG may not be diagnostic for ALS in bulbar-onset because the neuronal degeneration is at the brainstem level, and not yet at the cervical/motor cortex level.

I will share a brief history in hopes it will help others, as I didn’t see an abundance of posting of bulbar-onset. My symptoms started December 2022 when I noticed rare slurring of speech. I had slow progression/worsening until June 2023 when I had to stop work due to my dysarthria which was exhausting. Delay in diagnosing dysarthria was due to my prior history of vocal cord dysfunction which had resolved a year prior.

Of note, twitching in right arm started in March, and has now progressed to both arms and is just now beginning in both legs. I am slowly losing strength/muscle mass in both arms. At the same time in March, I noticed increased salivation. In June I had my EMG. MRI of brain and neck were negative. Blood work for multi focal motor neuropathy and general inflammation negative. Heavy metals negative.

I began having trouble swallowing and had occasional aspiration starting in June. I started Nuedexta at the urging of my wife mid-July in hopes that it would improve speech and swallowing. Thus far, no improvement, but fortunately no worsening. As most of you know, it is a drug originally intended for psuedobulbar affect, but is shown to improve speech and swallowing.

After many delays and phone calls, I arranged a visit to the ALS clinic where I got the diagnosis in mid September. Not a lot of hope there; no info on clinical trials, and only a luke-warm endorsement of Radicava of which I just completed my first 14 days. Apparently they want me to be on Radicava for at least 6 weeks before starting the butyrate-based med (relyvrio).

I have a pending lumbar puncture for completeness sake, and will seek another perspective/opinion in the near future.

I would welcome any comments or suggestions as someone new to this.

Specifically:
1. My voice is failing; I heard about voice banking and that the ‘Gleason’ foundation may offer assistance. Does anyone have experience with this?
2. Should I push for Relyrio, or other meds?
3. I have seen that near-red and infra-red light therapy has had benefit in Parkinson’s disease. I am looking into it for me but am curious if anyone has experience with this modality.
4. Neuronal Mitochondrial function and cellular autophagy (cleanup) seem to be a problem with ALS. Apparently fasting can promote neuronal ‘housekeeping’ and improve mitochondrial function. Any experience with occasional 24 hour fasting or with cold water immersion?

Thanks, and God Bless you all!

 

[lisa g]

Sorry to welcome you here, but there's always someone here that can give you information and tips that will help you. I will tell you what I have experience with.
1. Definitely contact the Gleason Foundation for voice banking. They will send you the voice recorder and set you up with a speech therapist to walk you through the process.
2.I see that you're taking Radicava, did they not prescribe Riluzole which was the first drug that was given to me. I don't know why they said to wait 6 weeks before giving you Relyvrio. If you have commercial insurance the co-pay is picked up by Amylyx. You can also check the Healthwell Foundation for grants on co-pay assistance or another program that they offer is to reimburse you for insurance premium. Last year I did co-pay assistance but this year I opted for insurance premium reimbursement.
3.I don't have any knowledge on
4.I don't have knowledge on

How is your saliva? There are things that you can do to help with that, Atropine drops, Glycopyrrolate tablets and Botox. I currently had my second round of Botox injections, so far so good.

I hope this helps you.

 

[jjanesth]

Lisa g,

Thanks for your response. I will contact the foundation. Regarding riluzole: my wife asked, but the doctor said it was ‘older’ and that Radicava was newer, implying that it’s efficacy was superseded by Radicava.

At my next appointment, I will inquire about relyvrio.

So far my saliva is manageable. I have noticed recently that it is escaping here and there. Thanks for the tips.

 

[Nikki J]

I encourage you to get a second opinion. That comment dismissing riluzole concerns me. There is no reason you can not take both though not starting simultaneously might be wise so you can tell side effects. Riluzole is older yes but recent research shows it can slow progression by 30% ( source originally heard this in a presentation by Professor Al Chalabi of King’s in London. He is extremely well respected but I honestly thought he misspoke and asked at Mass General where I am seen and they confirmed and said they are now starting it even when ALS is suspected but unconfirmed)

I am also disappointed to hear they offered nothing for trials to look into. You need to be on stable meds for 30 days for virtually all trials but if your breathing is semi ok and you can swallow pills with an onset of less than a year you should qualify for most trials if not all. Go to clinicaltrials.gov and search amyotrophic lateral sclerosis. You can specify recruiting statusand geographic area

 

[jjanesth]

Hi Nikki,

Thank you so much for your reply. I will put a note in to the doctor to see about riluzole. Impressive results at 30% improvement. I read the study for Radicava and it preserves 2 points at 6 months which seems to be 5% based on a 40 point scale.

I will definitely get a second opinion. Next stop, UC Irvine.

Breathing is preserved at this point, I aspirate occasionally and have trouble getting large pills down. I will start browsing the clinical trials.

For Radicava (I just completed my initial 14 day course a day ago):
1. I lost 4 pounds in the last 4 days, despite eating a good amount.
2. I feel off balance, though my leg strength is preserved.
3. Both arms seem to tremble more, and I feel I am losing arm strength rapidly -more rapidly than before I started Radicava…

Is it possible Radicava is making me progress faster/fatigue faster?

Regarding exercise: I was reluctant to do too much, so cut back a lot. I was told too much a can accelerate decline. Any advice on exercise? (It was routine for me to swim a mile, do hot yoga for 90min, etc.)

Thanks!

 

[Nikki J]

What MassGeneral told me on exercise was that if it takes more than one hour to return fully to baseline you did too much. It is possible to permanently lose an ability through over exertion. I did. A lot of people find swimming or water exercise easier but moderation is still key.

Anecdotally I have heard a few people say radicava made them worse. With ALS it is always hard to know but perhaps the cyclical dosing of Radicava will make it clearer for you.

To be clear riluzole has not been shown to improve but to slow progression

 

[jjanesth]

Thanks for the feedback on exercise. I assume return to baseline within one hour means respiratory rate and heart rate.

For Radicava, maybe in the next 2 weeks (no Radicava) I will see a difference, as you suggest.

Thanks for the riluzole clarification; I didn’t express that very well; I figured it was slowing of progression.

Best regards

 

[Nikki J]

Not respiratory and heart rate. Function and muscle fatigue recovery - so you feel like you could do it all over again.

 

[jjanesth]

I appreciate the clarification on recovery.

 

[Denise E]

We have many similarities with the progression of bulbar onset. My breathing changed a year ago, speech started failing by December 2023. By June it was hardly a whisper. In August, my ENT gave me injections in the vocal cord area as my vocal cords were not functioning properly. The injections have given me back some sound quality. At least I can chat with someone if they sit close or call on the phone. Could something like this help with your speech?

 

[Honey2468]

My mother (58, bulbar onset, February diagnosis) had similar symptoms after her first round of Radicava but the have subsided. I would obviously consult your physician about them if you are concerned, but I know there is comfort in not being alone.

As for exercise, my mom was also initially told the same thing by her first ALS care team. They made her feel like she was going to burn through her muscles. She has since switched teams and her RT and PT both agree mild exercise is important. There’s apparently newer science that supports this as opposed to the older view. The best rule of thumb they have given us is to not push yourself to a place where you would be sore the next day. Also recovery from each exercise should not be longer than the exercise itself. We mainly stretch, walk, and swim. My mom also mixed in light upper body weights.

I’m not sure if you’re having any respiratory symptoms, but I encourage you to find a pulmonologist/ RT as soon as you can. My mom was given a bipap type machine for sleep as well as a nebulizer to manage mucus. I wish we introduced this into my moms routine immediately. Her speech, swallowing, and energy levels are so greatly improved from using the two devices. I am a firm believer they are helping keep her respiratory system healthy and strong.

There are a lot of trials in Southern California if you are interested. ALS TDI and IamALS are two organizations that helped us find one for my mom.

I wish you and your family well - stay positive, and take it one day at a time!

 

[jjanesth]

Thank you Denise for your reply. Great question for me on the injections to the vocal cords. I assumed my voice issues couldn’t be solved by that, as the ENT said my vocal cords were coming together, just lacked the overall coordination to produce a strong voice at a normal pace.

 

[jjanesth]

Thank you for your input and encouragement Honey2468.

I have started light exercise again and will resume hot yoga soon, but limit my exertion.

Thanks for the tips based on your experience. I will pursue a bipap machine soon, and have a suction device pending as I sometimes have trouble bringing up sputum when I have a cold.

Best regards!

 

[PaulC]

jjanesth,

You've come to a great and supportive place with your questions. Here's my experience with some of your topics.

For context, I am also bulbar onset with similar symptom progressions. It began with occasional aspiration, then slurring of speech. I was diagnosed Oct 2022, so just over a year ago. My speech has continued to degrade slightly along with some other slight symptoms. I'm still able to communicate verbally, but it's pretty rough. I still have full function of limbs, though my hand strength is less than it was.

1. I definitely recommend voice banking if your voice is of good enough quality. Mine was degraded enough by the time I heard about voice banking that I wasn't interested. Do you have any recordings of your voice prior to onset? I am fortunate enough to have recordings of me teaching. Some voice banking services can use recordings. The newest iPhone iOS has an accessibility feature that will allow you to clone your voice and use TTS (text to speech) for phone calls, Facetime, and real time conversations. You can type what you want to say and it will be said in your own voice. The problem is that they require you to read a list of phrases in order to clone the voice. Not helpful for me.

So I am in the process of using an online AI voice cloning service (there are lots out there) to create a professional clone of my voice using my recordings as the training data. Then I will use that professional voice clone to speak the words to create the iPhone clone. That's all in process, but I can let you know how the quality is when I get there. A good app for using the voice once you've created it is Speech Assistant AAC for Android or iPhone. That can be used with any voice. If you want to sound British, you can download it!

2. I echo what the others have said. My understanding is that each of the three medications address different mechanisms and that all three can be used together to have a greater impact. Push the insurance to give as many as possible. My neurologist has said that the most recent data on Radicava is not as encouraging as initially documented, so I would lean toward Relivryo and Riluzole.

3. I have been using near infra red occasionally for the last year but almost daily for the last month. I can't point to specific results, but I seem to feel better as a result. Could be placebo, but the risks are really low and there are definitely documented general benefits of NIR, even if it doesn't specifically heal what ALS is hurting. Healthy mitochondria leads to healthy cells. Healthy cells lead to a healthy body.

4. I have a father in-law who is a retired orthopedic surgeon who swears by the intermittent fasting. I haven't tried it, mostly because I've recently gotten my weight back up after losing a good bit. You had mentioned losing a few pounds. I'm curious to know if you've considered a PEG. I had one installed in June and I wish I would have done it earlier. Because of the difficulty swallowing, my meals took forever to finish. It felt like I was eating a lot, but in reality my calorie intake was pretty small. I kept losing weight even after adding smoothies to my diet. Then the smoothies were less than comfortable to swallow.

The PEG took some getting used to, but it has made it so much easier for me to get the nutrition I need. It's a separate topic, but I still take in real food, just blended, so I'm not filling myself with man made nutrients or the sugar that is in most formulas.

Anyway, I'm praying for direction and healing for you on this journey.