[Mike]

Update – I had my appointment with the neuromuscular specialist on Friday.

The physical exam yielded some interesting results.

I have bilateral hyperreflexia when he does the knee jerk reflex that I did not have before. But no clonus. He said he considers it a +3. Hoffman’s reflex on both hands was negative. My strength in my upper body was somewhat diminished, compared to my exam in Jan 2021, but he said it was still a 4/5. Obviously any decrease in strength is not good but I’m just happy I don’t have full on muscle failure at this time. He said he agrees there is some atrophy in my right hand but that I don’t have split hand syndrome yet.

When I asked him the million dollar question, he was a bit evasive and said that we need to do an EMG. I’ve already had a ton of other testing, so that is the only test he thought would provide us any answers going forward. From the vibe I got from him, I’m under the impression that he doesn’t want to say whether he thinks this is or isn’t ALS. I tried to schedule the EMG but had to leave a message. Will try again on Monday.

 

[Mike]

Thanks for your input, Trevor, Dagmar, Lisa, Kathy, and John.

Here’s the thing – the clinic I went to was indeed an ALS Association Certified Center and run by a major academic university. The doctor who was being trained was a neuromuscular fellow and his supervisor who also examined me completed a fellowship specifically in ALS at the Lou & Eleanor Gehrig ALS Center at Columbia. He had excellent credentials.  I didn’t want to name the clinic I went to because I believe you are prohibited from making negative comments about medical facilities on the site.

Just to give you an idea of where I’m located – Cedars, UCSD, USC, Harbor-UCLA, and Loma Linda are all listed on the ALS Association web site and within an hour driving distance of me but none of those doctors accept my insurance. I have Blue Shield PPO. So unfortunately, I have to go to this particular clinic if I don’t want to pay a small fortune. I’m actually ok with it because the person who performs their EMG’s, as I suspect I will have after seeing this doc on May 13, is a neurophysiologist who has specialty training specifically in performing EMGs on ALS patients. I’m sure we will get to the bottom of this sooner or later.

John – Yes, you and I have very similar stories. It’s amazing. By no means am I doctor but do you mind saying what were the “abnormalities” seen on your latest EMG? Positive waves, fibrillations, etc…? This would give you a clue as to why the neuro at Mayo has come to the conclusions he has. Isn’t it strange that we both have very visible twitching but none is seen on EMG? If it wasn’t for the spasticity and cramps I was having, I would be all lower motor neuron involvement and would suspect PMA vs ALS, like you.  I understand you have bilateral foot drop, but when they test your strength in your arms, is it normal? Doctors seem to say “you have perceived weakness vs clinical weakness” if you can still pass them. PMA progresses much slower than ALS. Considering you’ve had symptoms for possibly 6 years and are not fully paralyzed, it would make sense if that is what it turns out to be. I hope you and I both find the answers we so desperately need soon.

 

 

[Mike]

Vance, do you have any video footage of the way you were before and after taking AMX?

[Mike]

Sorry for the late reply, but thanks Perfecto. That is very kind of you.

[Mike]

I’m sorry to hear that, John. For what it’s worth, I hope your progression going forward will be as slow as it has been for the past several years.

Have you looked into whether or not PMA allows you to go on Medicare before the age of 65? The information I read said specifically ALS and end stage kidney disease. This is something you should research if and when you feel you can no longer work.

Good luck. Keep us updated.

[Mike]

Lisa, thanks for your input. I’ve heard nothing but good things about Mayo but I already have an appointment this Friday with my local neuromuscular specialist. My insurance (Blue Shield) only allows me to see doctors within the state of CA. I will certainly try to get into another university ALS center if this doctor does not provide me with a diagnosis.

As for taking magnesium for cramps and twitching – I have researched this extensively and from what multiple doctors have said, magnesium deficiency generally only causes cramps and twitching if it causes secondary potassium and/or calcium deficiency. By default, if your potassium and calcium levels are normal on your most recent blood work, magnesium deficiency and supplements you take to increase the level would unlikely to help with twitching and cramps. I would also be concerned about taking supplements and having too much magnesium in the blood. This is something that needs to be monitored. However, I do believe that you feel it is the reason why your cramps and twitching have decreased and I say keep doing what you think is helping. Like Dagmar said, every patient is different.

[Mike]

Thanks for the suggestion. I know Johns Hopkins has a great reputation, but my insurance (Blue Shield of California) only allows me to see doctors within the state of CA. I’m sure I can apply for special authorization, but I have an appointment this Friday with the first neuromuscular specialist who saw me in Jan 2021. With my progression of symptoms, I’m sure I will have a good idea of what’s going on just by his physical exam.

[Mike]

Thanks, Don. So as of right now, you also do not have a diagnosis?

[Mike]

Thank you for the kind words, Amanda.

No, we don’t have a family history of neuromuscular disease. However, we do have a strong history of Alzheimer’s. My great grandmother, grandmother, and second cousin on my mother’s side all had it. Certainly by now we know it’s genetic.

Here’s what’s crazy – Scientists have identified genetic mutations like KIF5A and TET2 that were found in both Alzheimer’s patients and ALS patients. They’ve also found a protein called TDP-43 which was detected in the neuronal deposits of Alzheimer’s and ALS patients. It would not surprise me that there is a genetic component to the version of ALS that I possibly have.

As far as contacting any research facilities about genetic testing and entering a trial, I’d rather wait until I am officially diagnosed. I don’t believe you can participate in any unless you are diagnosed, correct?

[Mike]

To be honest, I could have went back after 6 months for a follow up consult if I wanted to, but I put my trust into them in Jan 2021 and didn’t want to come off as a hypochondriac. When someone who is supposedly an expert in ALS tells you he doesn’t think you have it, you want to believe them because it is such a horrible disease. Deep down I was skeptical. I should have returned sooner and begged for another clinical exam + EMG.

Regarding your latest EMG – Again, I’m no doctor but assuming your EMG was performed on all four of the regions of your body, it is interesting that you are physically seeing atrophy in your upper body and noticing gradual weakness but electrophysiological evidence diagnostic for an NMD is only showing changes in the lower limbs. Atrophy is a classic LMN sign and should show up in both PMA and ALS on EMG. Also, from what I read, PMA usually starts in the hands but your first symptoms were in your feet, way back in 2016. Not to say that it CAN’T start in your legs. Surely, all these various neuros you have been seeing have commented to you that your case is a difficult one to crack…