Rapid progression of symptoms, still no diagnosis

[cb81042]

Hello! Posting as the spouse of someone that definitely has something going on neurologically, but still no definite diagnosis. Will try to briefly (ha ha) summarize:

December 2021 - hoarse voice, slurred speech, frequent coughing. Visit to allergist ruled out post-nasal drip. GI doc did endoscopy, found esophageal stricture. Dilated stricture, started on PPI. Coughing somewhat improved but speech still slow and slurred to the point that friends and relatives are asking me if he's been day-drinking.

March 2022 - speech noticeably impaired. Let go from sales job due to making multiple mistakes. Booked appt with primary care physician due to concerns about slurred speech and cognitive/behavior changes (mostly difficulty problem-solving, changes in hygiene/appearance). Primary care doc ordered MRI and neurology consult. MRI showed cerebellar atrophy, neurology concerned by weakness in R hand and cognitive changes, ordered EMG.

April/May 2022 - sought second neurology opinion due to difficulty scheduling EMG with initial neurologist and husband not liking #1's bedside manner. Neurologist #2 also concerned for motor neuron disease or ataxia. Ordered oodles of tests. EMG = normal. Overnight oximetry study = abnormal with O2 sats in mid-80s while sleeping. Labs = normal except for low B12. Neurologist determined that B12 deficiency was likely responsible for neurological symptoms and recommended B12 replacement. Speech consult and swallow study notable for weakness of lips/tongue and flash penetration of thin liquids on video swallow study along with slowed esophageal motility. Speech evaluated as spastic-ataxic.

June 2022 - B12 replaced, retested within normal range. Symptoms continue to worsen. Neurologist ordered lumbar puncture - positive for protein in CSF, otherwise normal. Neurologist uncertain of diagnosis, leaning toward sporadic adult onset ataxia. No definite diagnosis as a result of this extensive testing, neurology had nothing further to offer.

July 2022 - sought third neurology opinion. Neurologist immediately concerned for bulbar ALS based on presentation. Ordered second EMG, consult with neuromuscular specialist and PFTs. EMG results were abnormal and different from the initial EMG in April 2022, but not diagnostic for ALS. Based on negative EMG, referred to ataxia clinic and neuromuscular consult and PFTs were cancelled by the clinic.

August 2022 - visit with ataxia specialist. Diagnosed with spinocerebellar ataxia based on cerebellar atrophy present on MRI. Referred to speech therapy and instructed to return to clinic in 6 months. Ataxia neurologist unconcerned by profound weakness of facial muscles.

August 2022 - March 2022 -- continues to have sharp decline in speech and swallowing. By March 2022, no longer able to speak in full sentences. Speech almost unintelligible. Significant weakness of tongue and lips. Cannot raise eyebrows, cannot smile, having difficulty spitting, blowing nose, and endorsing shortness of breath with minimal activity. Having difficulty with non-verbal conversations as well. Can no longer walk and talk at the same time. Frequent coughing and multiple suspected aspiration events.

April 2022 - Now having difficulty chewing. Cannot manage saliva and drools often. Frequent coughing due to choking on own saliva. Having difficulty breathing while laying flat. Short of breath with minimal activity. Increasingly anxious. Quality of communication (both written and verbal) deteriorating fast. Followed up with ataxia specialist and ataxia specialist shocked that symptoms have progressed this much. Ataxia specialist now concerned for motor neuron disease. Third EMG ordered. Another MRI ordered. Second swallow study ordered. Pulmonolgy consult placed. All of these are pending and will be completed within the next few weeks except for the EMG that isn't able to be scheduled until September. [insert big eyeroll here]

So that brings us to today. I have suspected since the first neurologist ordered an EMG that there might be something neuromuscular going on. The ataxia diagnosis never felt right and genetic testing was negative for all of the common ataxias. Mobility-wise, there hasn't been much progression. I can tell that my husband has lost a lot of muscle and his muscles are often "twitchy" at rest. His balance is somewhat impaired, but he is still ambulatory and doesn't need any assistive devices. Getting up from a seated position is more challenging and he is having difficulty with fine motor skills like buttoning shirts or taking lids off jars, but otherwise gets around slowly but surely.

I'm frustrated because it's clear that there is something happening, but we still don't have a definite diagnosis or prognosis. It's clear that whatever this is, it is progressing rapidly and having a big impact on his quality of life. Every single neurologist that he has seen has been immediately concerned for motor neuron disease, specifically bulbar ALS. However, his EMGs have not supported that diagnosis thus far. We have been in this awful limbo for over a year, knowing that something is very very wrong, but unable to label it or get the correct resources in place.

I occasionally lurk on some of the sub-forums and find so many things relatable, but unfortunately can't participate in any of those conversations because there isn't an official diagnosis in place. It's a very lonely place to be as there really isn't much of a community geared toward the undiagnosed. I'm not totally sure what I'm expecting to get out of posting this brain dump -- maybe someone else can relate to some of our story and offer some sage advice for how to deal with this kind of uncertainty.

Thanks for listening.
cb

 

[Nikki J]

If it hasn’t been done ask for an nfl level. It is not considered diagnostic but it is a data point and might be helpful It is a blood test

 

[KimT]

Is the next EMG going to be done by a neuromuscular MD? If so, they may decide to do the bulbar area. I had my bulbar area done and they did the SCM muscles in my neck. It was done at Mayo Clinic in Jacksonville, along with a swallow test and the ENT scoped my throat. The main finding was partial paralysis of my right vocal cord.

I agree with Nikki on the Neurofilament light chain test. It's not specific but it can detect neurodegenerative processes. My doctor has been using it to track his MS patients' response to therapies.

It sounds like you're on the right track to getting a diagnosis. There are so many diseases that are hard to diagnose but the fact that you kept very good records of progression will help.

 

[cb81042]

Thanks for the replies Nikki and Kim - I don't believe that was done on his extensive bloodwork from last spring - I will have to ask, I haven't heard it mentioned before as part of the workup. EMG #1 was just a regular neurologist, EMG #2 was with a neurophysiologist and EMG #3 is scheduled with the same provider for consistency. Both providers assessed his tongue and facial muscles and based on his symptoms I would expect them to repeat it.

Pulmonology consult results basically said that his PFT and breathing symptoms were consistent with neuromuscular disease and suggested considering support via cough assist or NIV if symptoms progress. Husband is very much not in favor of either of these devices. He is also adamantly against a feeding tube (which isn't on the table now, but with his continued swallowing difficulties, I imagine that it is only a matter of time before it is). He still has a few more repeat diagnostics next week and then I will reach out to neurology for next steps or to see if that repeat EMG can be pushed up a bit. September seems way too long to wait with how quickly things are moving. His speech is nearly unintelligible most of the time and he is concerned about what he perceives as new weakness to his right hand (it's been noted before by neurology, so not 100% new, but I guess consistent enough that he believes it now).

I have a hunch where this is going based on how quickly things are moving and what his priorities are with respect to quality over quantity, but this watch and wait limbo for the last year and a half has been brutal. It also makes it difficult to know how aggressive we can be with his bucket list -- can we spend his retirement on things that would bring him joy, or do we need to prepare for staggering medical expenses? He's also experiencing cognitive decline on top of everything else, so his decision-making skills and abilities make it difficult for him to understand the full scope of what is happening. For him, an actual ALS diagnosis would be devastating, even though his collection of symptoms are in pretty close alignment with that or something very similar.

Thanks for listening and providing a place to process some of this.

 

[Nikki J]

Nfl has only been available clinically since last summer- July I think
what to do and the money issues are personal decisions. If this is ALS and respiratory compromise is already happening and both respiratory support and a feeding tube are off the table no one has a crystal ball but things would go more quickly with those choices

I am sorry this is so hard

 

[rmt]

My husband also had cognitive decline, and honestly, that was the hardest part for me. It puts so much pressure on you as the caregiver. I would recommend trying to get caregiver help if possible, to give yourself a break and so that you can just enjoy time with your husband sometimes without being "on the job". No matter what the diagnosis end up being, try to spend as much quality time with your husband as you can. Do fun things. Make memories.

Sending strength and hope to you.

 

[lgelb]

Whatever his PFTs (feel free to post them with his details crossed out) if his sats are dropping to 80s without BiPAP, he needs it. I would therefore find someone (can be a PCP) to order it. It might improve not only his energy and breathing, but cognition. I am astonished that a pulmo with access to his records would let him walk out of the office without arranging at least a sleep study or BiPAP trial. If necessary, pending reimbursement, even a "standard" refurb BiPAP that you can pay cash for could help quite a bit.

 

[cb81042]

Well, the latest EMG results suggest motor neuron disease according to the report. It's not official as the results haven't been delivered by the referring neurologist yet, but there were widespread abnormalities with pretty much every area that they assessed and significant changes from what was done a year ago.

My husband will adamantly deny that he experiences shortness of breath and it is both fascinating and infuriating that providers take his word for it over my observations that his breathing is definitely not normal. I suspect that plays a large role in why no further workup has been done -- he has been very much against any sort of sleep study or non-invasive ventilation device. They did not push and neither did I.

I'm having to "translate" for him in almost every setting, his speech has become so difficult to understand. He isn't able to figure out how to use any of the text to talk apps that speech therapy has recommended because they are too complicated and he can't figure out how to do the basic functions. I am doing a lot of damage control on my end -- and hating that I am telling him he can no longer do certain tasks around the house because it's too much work for me to fix his errors.

There is a part of me that is almost relieved that this EMG finally correlated with the symptoms that have been happening for the last year and a half. The other part of me is incredibly sad that this is his path. The MD used the term "rapidly progressing" when describing the nerve conduction and EMG changes and that was difficult to see in writing. My husband doesn't know any of this yet -- he isn't able to figure out how to review test results or notes in his medical record, so he is waiting for the next neurology appointment to get the results and can be blissfully ignorant of it until then.

 

[Nikki J]

I am very sorry. I know there are mixed feelings as you at least do not have to keep looking for an answer but however expected it is hard

 

[cb81042]

Thank you, Nikki. The diagnosis is now official and he was able to get in for his first clinic visit very quickly due to a cancellation. It’s an overwhelming amount of information but I am glad to have the right supports and resources available. I’m also glad to have this forum as an additional resource.

 

[Nikki J]

I am glad you got to clinic. Please feel free to start a thread elsewhere Newly diagnosed is good if you want to discuss / ask things generally as you enter this phase. General discussion is good for specific questions / issues and you can get input from PALS and CALS both. If you want support as a CALS and to discuss the issues and stresses specific to the CALS role Current caregivers is good. There is also a CALS roll call if you just want to check in