Concerned about Bulbar ALS

[Esibila]

Hello everyone, I really appreciate all of you taking the time to read through my post and help me with my health concerns.

I'm a 37 year old male, married and father of two boys (5 and 3 years old), living in Miami, FL. For the past 3 months I've been feeling many different symptoms and I have gone to the ER 3 times and multiple visits to specialists (Cardiologist, ENT, GI, and Pulmonologist) to get checked.

My symptoms have ranged from chest pain and shortness of breath to heartburn and tightness and burning sensation on my tongue. Every test that has been performed so far has been mostly clean (Blood work, Chest X-rays, Echocardiogram, EKG, CT Angiogram, Stress Test, 48 hour Holter, Abdominal Ultrasound, Endoscopy, Pulmonary Function Test, Chest CT, Abdominal CT). The only issues on any of these tests were a low ERV % on the Pulmonary Function Test (0.74 value when LLN is 0.76), a small Hiatal Hernia, a deviated septum, and a second degree AV block / bradycardia on my Holter Exam which my Cardiologist said was not an immediate concern and said to live my life as if the block didn't exist.

The chest pain has mostly gone away but the two symptoms that continue to linger are the shortness of breath (feeling like I can't take a full deep breath every time) and the tongue tightness. At first the tongue came and went but now I feel it all day long. It's like if i was pressing down on it with my finger. Sometimes the tightness feels as if it's on the top side of the tongue and other times as if it's below the tongue. I don't have particularly slurred speech and I can move my tongue around fine, but the tightness is always present.

When I'm speaking and I feel as if I need to force my tongue to speak in order to avoid it from slurring. It begins to hurt after I speak for a while. I also have sort of a burning feeling at times with no lesions present. It is driving me insane and I shy away from speaking as much as I used to because of it. My lips and jaw feel tight at times too.

As for the shortness of breath, it tends to get worse when I'm standing up which concerns me that my diaphragm may be weakened, although the Chest CT did not show any displacement. My sleeping oxygen values are around 95%, though i did get an isolated reading of 93% one night on my Fitbit. I do not have problems swallowing, though sometimes my saliva chokes me up a little when i take a deep breath and makes me need to cough a couple of times.

I am fairly active, I jog about a mile a day and walk about another mile or so, though i used to run half marathons and ran a 5k as recently as earlier this year and now I can't even run a mile without feeling out of breath.

I have an appointment with a Neurologist in mid September and I'm considering going to a Psychologist too. I apologize for rambling so much, just want to express some details of how I'm feeling in order to get your opinions. Thank you very much once again.

 

[lgelb]

I would ask the neurologist, depending on their findings, about the advisability of seeing an allergist, and maybe a speech pathologist to rule out adult-onset allergies and/or other tongue pathology. However, you already saw an ENT that hopefully ruled these things out to some extent.

And a sleep study; you can also video your own sleep. If your tongue is interfering with your breathing when you're sleeping, as can happen for several reasons besides ALS, that a deviated septum could make more prominent, that could leave you more fatigued during the day.

In ALS, your breathing would not be worse standing up. And your PFTs would not be substantively normal. So I don't see any reason for thinking of ALS, particularly. That leaves a lot of territory, and it sounds like you are in a good position to continue to narrow down the possibilities. Not sure if you are taking any meds for the hiatal hernia, but that can affect the saliva/breathing stuff to an extent. So that might be worth a second opinion as well.

 

[Esibila]

Thank you very much for taking the time to reply to me. I will follow your advice and seek additional medical help. In ALS, what do the initial bulbar symptoms and diaphragm weakness feel like? Would it be concerning to feel that it's difficult to take a deep breath in any particular position more than another? For example, if I am standing up or walking sometimes I feel as I'm when I try to breathe in it have to do it in two parts. Other times I feel tightness or pressure in my lower neck when I exhale and the sensation as if it's difficult to then inhale again. I've never choked on food or drink but sometimes I try to swallow my saliva and it gets stuck, as if my throat muscles don't want to swallow. I have to suck in saliva to generate enough volume to get it down. Would i be able to chew gum with Bulbar ALS? I often chew gum now because it helps relieve my symptoms a bit.

 

[lgelb]

Two-part breathing and tightness are not the usual description of bulbar weakness, no. So I'll double down on the suggestion to make sure the hernia and any sleep issues are addressed. I would ask the ENT about a swallow study if you haven't had one.

But the mind is very powerful, yes, and if everything physical is ruled out, it would be worth exploring the false flags your mind may be contributing -- anxiety can lead to dryness, and a restrictive breathing pattern that can manifest as you describe.

 

[Clearwater AL]

Esibila, you pretty much covered all this in your first post. These are issues that need to be addressed
to your doctors. Re-read what lgelb (an extremely ALS knowledgeable member), if you have to...
before you spiral into serious Health Anxiety before you see the Neuro this coming soon next
month.

 

[Esibila]

Thank you all very much for taking the time to read and reply to ease my concerns. One more question just to ease my anxiety a little more... would the feeling of a strained or pulled muscle on the back of your tongue be common with ALS? When I'm speaking for a while I feel like if I'm forcing my tongue to work, and it hurts like if it were a sore muscle. I've had this feeling for about two months now, so I wouldn't think it's due to an overuse of the tongue.

Also, I would really like your recommendation as to whether there is a specific organization I can contribute to in support of ALS research. I would really like to pitch in with whatever is possible to help the ALS community find the cure that's so much needed. The ENT prescribed me a Neck CT so I will get it done while I wait for my Neurologist Appt. If there are any new developments I will post again. I appreciate all of you very much.

 

[lgelb]

No.

Again, I would look at a sleep study. Whatever your tongue is doing or not, odds are it will be evident in sleep. I would also consider a second ENT opinion, because what you describe sounds more like an injury or lesion than a systemic disorder.

As for contributing to research, that is very generous. I would look at your local ALSA and MDA chapters, as well as local university researchers with ALS interests.