Any diagnosed have this much uncertainty at first?

[4tloml]

I am wondering if anyone has experienced symptoms developing along these lines, because my husband seems an enigma to the 3 neurologists who are passing him around.

A year and a half ago, my husband's speech became notably slurred. I had noticed a tremor in his hand and occasional slurring a little before and asked him about it, but that day he called and said he was having difficulty even forming the words. PC doc ordered MRI and sent him to first neurologist who showed me the fasciculations in his tongue and diagnosed him with bulbar onset ALS and ordered EMG with ALS specialist.

ALS specialist said there were abnormalities in EMG/NC, but something didn't "look quite like ALS" and sent him to movement disorder specialist. That neurologist thought it might be multiple system atrophy (a Parkinson plus disorder). However, at his last visit a few weeks ago, she noticed serious atrophy of his right (dominant) hand and arm. (Upper arm measures 2" less than non-dominant left arm.) That happened very quickly--we were shocked we hadn't even noticed. She's now sending him back to ALS doctor for another EMG and MRI.

Meanwhile, his speech is extremely difficult, as is eating (moving food around with tongue). He has learned swallowing and breathing techniques from the speech therapist, but feels out of breath a lot and feels like he has to take in all the air he can just to try to finish a sentence. Also a lot of hiccups--daily, in fact. I feel fasciculations in his arm, hand, and chest/side/back when I have my arm around him at night. The emotional lability is giving him a lot of trouble, even on the neudexta. If we walk very much, his legs get very stiff. (I think they are getting smaller, but we didn't measure them.) He has an AVP (auto BiPAP) unit at night that kicks in when he stops breathing and that took him from 35 episodes an hour down to around 5. He is still working, but so tired now when he gets home I don't know how much longer he can.

He's negative for Kennedy's and Myasthenia Gravis. Since muscle atrophy is not a symptom of MSA we are looking at ALS again. It's been 1 1/2 years and all of the sudden it seems things are starting to progress more quickly, so we're feeling time closing in on us, especially still not knowing what we're dealing with. Does any of this look familiar to any of you?

Thank you for any comments. I can't say I know, but I can imagine how challenging even writing a response can be. Please know I am grateful.

 

[gooseberry]

Bulbar onset als is only 20-25% of cases and some neurologists who arent as familiar with the disease think this type of onset is atypical because it isnt the more common limb onset. My husband was diagnosed with als but neuro told us it was an atypical presentation since it was mostly lmn and breathing issues. At clinic he got the bulbar onset diagnosis. Having a neuro who specializes in als is very important for both diagnosis and treatment.

 

[Mediasmart]

Go to a clinic. Find docs who see ALS all day long instead of once a year.

 

[affected]

It is so uncommon for me to read anything in this section and identify with what is written.

My husband had bulbar onset and you describe many things that I came to realise were very typical.

I'm not saying that I can diagnose, but I would also encourage you to have him checked again by a neurologist who specialises in ALS and get this settled.

Maybe you actually had a period of grace of some sort, where you weren't completely sure, where there was just a little hope. So it's not like a misdiagnosis has robbed you of a chance to have treated him. But it is probably frustrating as at some point we don't want the denial and want the monster named (not saying you were both in denial!)

Is this ALS doctor someone who deals with ALS all the time? I just know that with the state of his progression you really want someone who can give you a certain answer (unless this is something else even more rare and weird).

Please let us know how you go, I hope you can get in somewhere fairly quickly as your husband may have to stop working and a correct diagnosis now would be most helpful. I understand something of how difficult it must have been for you to write that post

 

[4tloml]

Thank you all for your replies.

Neurologist #2, who thought the EMG/Nerve Conduction studies didn't look quite right for ALS 14 months ago is the director of the ALS clinic, and we were incredibly relieved to hear that. But as I've read more this evening on this forum about bulbar onset ALS and the many posts indicating sometimes initial EMGs/NCs aren't definitive, it's certainly looking more like our first guy had it right. All the bulbar symptoms are there and now the atrophy in hand and arm and stiffness in legs. Tillie, like you said, I think it's just time for the doctor to name the monster.

But we'll hold on till the next battery of tests...the days go by fast enough!

Thank you again for this place to come with our concerns and for your generous, lived wisdom.