Worried My Father has ALS - struggling to get a diagnosis

[aceshigh88]

Hello All,

This is my first post here, and it's about my father who is experiencing MANY of the symptoms of ALS but has not been diagnosed and is struggling to get a diagnosis, part of the reason is that he is not honest with himself or his doctors about his symptoms. Sorry for the long post but I'm really trying to get good information to point him the right direction.

I'll give you a history of his symptoms and how they've evolved over time. Would love to get your thoughts on if they are ALS or if they could me some other neurological disorder. I don't live with him and see him only several times a year so my summary will be based on my perspective as I can't provide all of the details about how his symptoms have evolved over time and he isn't a reliable narrator when it comes to his health issues.

He first started complaining of shortness of breath in the spring of 2021 after doing a lot of physical activity. He believes he had COVID in the late spring of 2020 and has been convinced since then that he's had long COVID, especially because he's been struggling with shortness of breath for the past two and a half years. In addition to his shortness of breath, I began to notice balance issues in the fall of 2021. We take an annual fishing trip and during that drip he sometimes struggled to get in and out of the boat and one time fell because he tripped while in the boat. The fishing guide suggested giving him a wading cane to help him walk in the river, but we never got our to the boat because he didn't feel comfortable. In the year following our fishing trip, his physical activity declined as his shortness of breath got worse and he spend more and more time on the couch and less time going out. My family attributed it to him getting old and being lazy/sedentary more so than underlying health issues, although he continued to worry about long COVID given his ongoing shortness of breath.

Last fall we went fishing again. He couldn't get through the airport without stopping several times to sit and catch his breath. My brother and I remarked during this time that his friend who joined us (who was close to 80) seemed significantly older than my father who was 74 at the time. He was still able to go fishing, but struggled with fatigue at the end of the day. Our fishing trips are fly fishing and during this trip he struggled with some of the casting movements that required using his wrist. The guide tried to help him with it but he grew frustrated because he knows how to fish and didn't think he needed the help.

In November of 2022, we went on a trip to Paris. During this trip he was mostly able to walk by himself, but got fatigued and had to stop and rest after walking 5 or more blocks. Additionally he struggled to walk on cobble stone steps so we got him a wheel chair to navigate those streets along with sites like the Louvre and Versailles. He was still able to ascend and descend stairs on his own and without holding on to handles, but he was a bit shaky and got fatigued quickly. He continued to believe that his respiratory issues were associated with long COVID.

In January and February he came to watch my daughter's indoor track meets. By this time we was walking longer distances with a cane and could not ascend the bleachers without significant help from his family. His mobility continued to decline and his shortness of breath continued to get worse. Late winter he went to see a pulmonologist who was unable to find any issues with his lungs. He also went to a neurologist who ran a number of tests including an EMG but his results were inconclusive.

By June we noticed some pretty severe leg twitches along with hand tremors and his speech began to slur from time to time. He also gained a bunch of weight because he quit eating healthy food and subsisted on a diet of cookies, candy, and scotch. By July his slurring had started to get worse and he had his first fall where he opened a big gash on his head and broke four ribs. He was in the hospital for several days and send home. By this time his wrists were getting weaker and he struggles to hold a cup of coffee or eat with utensils. He's also begun to salivate more when he eats which causes him to cough. Additionally he struggled to walk more than 50 feet without having to stop and catch his breath and he is extremely unstable.

Three weeks after his first fall he fell again and punctured something which caused significant internal bleeding. He was take to the hospital in an ambulance and had to have two liters of blood removed from his chest cavity and he was placed on oxygen. A neurologist did a very cursory exam and told him he doesn't have ALS because his knee reflexes are hyporeflexive vs. hyperreflexive. About two weeks after he left the hospital, he fell again, but this time did not suffer enough damage to have to go to the hospital.

His current state is that he needs to walk most distances with a walker and if he walks more than 20 feet he has to stop and rest for several minutes to catch his breath. Additionally he has stopped eating much even though he says he's not struggling to eat. Additionally he doesn't think things taste good any more. He pretty much only moves from his bedroom to the couch with the help of a walker and if he goes out anywhere it's with a wheelchair. He has a chair in his garage so that he can rest between the car and the entrance to the house as he is unable to get from the car to the house without resting, even when using a walker. He can barely shower on his own and has to hold on to many bars within his shower and use the bench in his shower. Additionally, my mom has to help him get dressed and tie his shoes because doing so causes him to lose his breath and he has to sit for a number of minutes to recover.

He went to a pulmonologist again a couple of weeks ago who told him that his breathing issues were likely due to a neurological issue. He saw his PCP yesterday who again told him that he probably has long COVID with neurological issues. He has a neuro appointment in a month but I'm concerned by his rapid deterioration and worried that he needs help sooner. I know long COVID can cause neuro issues that aren't yet well understood, but his issues and deterioration make my think it is something worse. I'm really concerned that he isn't giving the full picture of his health to his doctors and would love advice on how to get him to the right people so that he can get the help he needs.

I'm curious what you all think as it seems to me that he has all the symptoms of ALS but the doctors he is seeing don't seem to think so. Could this just be long COVID or do you think it is something else? Would love to get all of your feedback.

 

[Nikki J]

I am sorry about your father.

It is true long covid can cause neurological issues and also long term breathing issues. I was actually reading about a program someone is working on for breathing retraining for long covid just yesterday.

We really can’t guess about your father’s diagnosis without seeing all his test results ( pfts, emg especially) but even then he is clearly complicated.

I strongly suggest you get him evaluated at a university level medical center. If you care to share his location we might be able to suggest somewhere

 

[aceshigh88]

He lives in Denver.

 

[Nikki J]

U of Colorado in Aurora neuromuscular clinic

 

[lgelb]

Or National Jewish or Kaiser in Denver. You can see where he can get the sooner appointment, and ask to be on waiting lists for cancellations at the others.

 

[aceshigh88]

He's getting treated at Kaiser and has his Neuro appointment on 10/2 which is good. I apologize for all my questions and I know you don't like to use this forum to try to diagnose conditions other than ALS but I'm trying to arm my parents with enough info and questions to do my best to make sure his neuro appointment is comprehensive.

I live in a different state so I won't be able to meet with the neurologist when he goes. They have a second house where I live and I was able to be at the hospital with both of them during his second fall and they are AWFUL at communicating clearly and articulating a holistic picture of his symptoms.

His latest visit with the pulmonologist indicated muscle weakness that had neurological issues, and his shortness of breath is horrible, BUT physical exertion raises his pulse ox rather than causing hypoxia, which is interesting. Additionally is PCP just told him his white cell count is high, indicating possible pneumonia, which I think is caused by aspiration from swallowing issues. He is also severely anemic and is getting an iron infusion in a couple weeks, who knows what could be causing that, but his diet is horrible and he subsists on candy, cookies, and scotch right now.

I've done a ton of research and his symptoms really seem to present as ALS, progressive muscle degeneration starting in his legs (he has foot drop), moving to his hands and arms, and he now has both dysarthea and dysphagia which have presented this summer. His mobility has degenerated to the point that he needs a walker to move short distances, anything longer requires a wheel chair, and he needs a lot of help to do thinks like get dressed and tie his shoes. He sleeps most of the time and falls asleep mid conversation. IHe also has quit driving. In two years he has gone from fully functional albeit with a bit of clumsiness and shortness of breath after a lot of physical exertion to someone who basically can't move and needs a ton of help with all day to day activities.

The challenge is that he has a few things that seem to be contra-indicative of ALS. His knee reflexes are hyporeflexive and his EMG in may did not show enough LMN degeneration to make an ALS diagnosis. I would think PLS except he's had severe issues with shortness of breath since the onset, which is not something normally seen with that diagnosis. He's thought he's had long COVID since 2021 which could explain the shortness of breath and some of the neuro issues, but certainly not all.

So he really seems to be a complex case and a massive puzzle. I'm trying to arm my parents with enough information prior to the neuro visit to make sure the communicate clearly which is challenge since they are both terribly unreliable narrators. Would love to get your thoughts to see if any of you have seen ALS present in the way I've described above or if it's indicative of some other MND.

Any and all input is much appreciated. Thanks!

 

[Nikki J]

You can message the doctor in advance of the appointment giving information. If you do be organized and concise perhaps bullet point format. There is no privacy concern with you giving information. The doctor of course would need a release from your father to share information with you.

It is also possible that they would allow you to facetime in for the appointment

 

[aceshigh88]

That's a great idea. I'll see if my mom can send the neurologist a summary of his symptoms ahead of time. My father is one of those stubborn old folks that doesn't like to share information and doesn't want to admit that something serious is wrong, which makes it really hard to get him the care he needs. It also means that he won't want me to facetime in the appointment. He also gets mad at my mom if she shares information that he doesn't like or agree with, so he is certainly not the ideal patient . That's why I don't have his test results to share here. It's incredibly frustrating but I'm just trying to do what I can as my siblings and I are worried he won't make it another year unless his health miraculously starts to turn around.

 

[lgelb]

Your mom is a free agent to share your dad's info, such as test results, if she so chooses. I hope she has or shares credentials for his portal account.

Anemia often increases platelet counts. If his anemia is severe, there are specific ruleouts that a hematologist should be consulted on.

There are many neuromuscular d/o that could affect breathing besides ALS, the latter of which I would think would be visible on an EMG by now. On the other hand, ALS, along with many other things can present with slowed reflexes.

His PFTs are obviously important to the diagnosis. But if exertion improves his sats, I would also want to rule out a circulatory issue esp. since he had COVID. I trust he had tests like an EKG and an echo, if indicated, for example. Also, if his breathing is so poor, why is he not on O2 or BiPAP, depending on his test results?

I would also provide your mom with a list of her "own" questions for the visit, which your dad might find more palatable than yours.

 

[aceshigh88]

Cardio and circulatory issues were ruled out during his last hospital stay after his fall (he had both an EKG and echo), and his last pulmonary exam indicated mostly normal lung function with the exception of of a compressed lung as a result of his last fall. Sounds like they treated his anemia at the hospital last time around but it's back now and the negative EMG in may seems to point away from ALS. Maybe he has PLS with some kind of comorbid lung condition? Just speculating. He's not on breathing treatment because his pulse ox doesn't drop with exertion, that's all I know. They didn't test his CO2 levels last time around which could be causing and increase in shortness of breath even though his pulse ox remains high.

He's also had MRIs, CAT scans, and brain imaging. All done at the hospital after he fell. Nothing was found.

It seems like he needs a work up at a more world class neurological facility as his diagnosis may exceed the skill set of the doctors he's been seeing. Do any of you have recommendations of where he could potentially go (outside of Colorado although it's nearly impossible for him to travel by plane in his current condition)? He's seeing a different Neurologist this time around so maybe that doc will be able to put all the puzzle pieces together, but I want to push him to get treatment from a facility that specializes in this sort of thing if they're unable to identify what is wrong.

 

[Nikki J]

Kaiser does have an als clinic but if he doesn’t present with a suspicious picture he may not get referred. If he is being seen at Kaiser he must have Kaiser insurance? The website for the als clinic says they only see Kaiser patients. It is problematic to go outside the Kaiser system if so.

He may not have a primary neurological condition so maybe he needs to see a different specialty. Getting to the root of his anemia seems important. Hematology? GI?
Does he have an internist? Maybe if the neuro is unhelpful he should check back with them

 

[aceshigh88]

He saw his PCP this week, she's the one that found the anemia and identified his higher white blood count. She's well aware of his big picture symptoms but has admitted she doesn't know what's wrong and is waiting on the results of his next neuro appointment. So far she's scheduled and iron infusion to address the anemia but no hematology referral as far as I'm aware. Maybe he'll get referred to the ALS clinic this time around, I know they often times deal with complex neuro issues beyond ALS. We'll see...

I'm aware of the insurance issues but he does have the means to pay out of pocket for an assessment if necessary, even though he'll be very resistant.

 

[lgelb]

Agree, this doesn't seem neurological on what we have to go on now that you've specified essentially normal PFTs ( did he have any pre-fall?). If ALS were causing the severe breathing and movement problems you describe, this could be seen on PFTs and the EMG.

Rather than press for an ALS clinic referral, internal medicine -- there are clinics that specialize in complex diagnostic cases -- does seem the place to be.

Severe anemia can't be "cured" unless the cause ends naturally, like finishing chemo, or is treated. And no one should be getting major iron infusions without a hematology consult at least as to the panels to run, including a smear since there are very different kinds of anemia. And anemia and/or many of its causes, can certainly cause breathlessness, fatigue, and sleeping a lot, which in turn can lead to immobility, even atrophy.

Some kind of wearable to track his SpO2, sleep, and pulse might be helpful -- you can get a FitBit for $99, if he'll wear it, with a "knowledge is power" argument.

 

[aceshigh88]

Thanks for all your help and insight! I was convinced he had ALS until I read through your forum. He has all the right symptoms and he seems to be deteriorating in way that lines up with ALS, but the diagnostics just don’t seem to bear that out. I’m not sure if I feel better or worse knowing this as he is very sick and just seems to be getting worse with very little idea why.

I’ll let you all know how this turns out, reading all the posts in this forum has been very helpful and educational for me. Hopefully others can find mine useful as well.