need opinions and guidance

[rabbit1]

Hello to all,

I am new to this group and would love some information and perspective on people who have seen this terrible disease first hand.

I am posting for my mother who is 58 years old and experiencing an array of symptoms and problems for about 5+ months now.

This all started back in August when she began twitching in her face and within a week the twitching spread throughout her whole body. Over weeks it progressed and she had twitching and fasciculations constantly all over her body, it kept her awake at night and came with some cramping as well. She felt fatigued and like she was weak and couldn't do as much as normally.

She saw multiple doctors and had MRI's, X-Rays, Scans and blood work done and all came back clean.

She then had an EMG done in her legs (where the most of the twitching was at the time) and it was sent to her now muscular neurologists in about October. Her Neurologist said the EMG was done well and he did not need to redo his own. The EMG showed some nerve damage but he ruled that to other causes and as well preformed a physical exam. She has been seeing this same dr since then regularly. She as well sees a gastro dr who has diagnosed her with gastroparesis and says that is what has caused her 30 pound weight loss and swallowing issues which he put her on medication for and helped some. Her arms and legs as well ache and when she sleeps she feels like she has to sleep in different positions and wakes up with her upper arms hurting.

Her neurologist has changed what he thinks it could be multiple times and has done multiple tests that have all come back fine ruling out other conditions. He has tried multiple medications and none have seemed to work.

Within the past 2-3 weeks she has started to experience extreme tongue and jaw pain, the actual tongue muscle hurts and aches. The tip of her tongue burns and she has started to slur her words a little bit, more than usual. She feels like her tongue is swollen and her lips and mouth twitch and swallowing issues have returned some when she eats.

I am posting on here because I would like to know if anyone else has experienced this. She feels like she's getting no answers and her symptoms just keep progressing and getting worse. It is so so hard to go through this and not have any answers and we just keep praying that the ultimate diagnosis is not ALS and he is just not buying time till more symptoms show.

I know this is a group of people who have experienced extreme tragedy and hardship that I would never wish on anyone. I welcome all insight and opinions on if this at all sounds like ALS. She is not tripping or dropping items and does not have clinical weakness from what the neurologist can see in her body. But would this start in the body then spread to be bulbar onset? Does any of this sound like ALS?

Thank you so much for your time.

 

[lgelb]

Sorry your mom is going through this. If you could post the EMG report, we could be more helpful.

Is the neurologist who keeps changing his mind at a neuromuscular center at a university? Where does your mom live?

Best,
Laurie

 

[rabbit1]

Hi Laurie,

Thank you so much for the quick reply. She sees a neurologist in a private practice and we live in San Antonio. I have attached the EMG results. I can add that upon her neurologist doing a physical work up on her he said all looks good to him. Example, testing her muscles and reflexes. He has said and we have read that since she is having sensory issues, for example tingling, numbness and pain that this does not align with ALS. But i have also seen posts that said they have as well had some of those sensory issues so its all just so confusing I thank you again for your help!

 

[rabbit1]

I can also add that she has degenerating disks in her neck and arthritis of the neck.

Her Neurologist at first thought it might be benign cramp fasciculation syndrome but is now thinking it could be small fiber neuropathysince she does have some burning sensation.

 

[affected]

Sorry for the stress as you search for a diagnosis.
My husband was bulbar onset and it was nothing like you report about your mum.

That EMG doesn't seem to suggest anything remotely like ALS if you read the conclusion.

I hope you get something more definitive soon but you don't describe ALS at all I'm happy to say.

 

[lgelb]

I see nothing in the tests that contradict the idea that she has nerve damage in her lower back, nor any indication of muscle weakness or atrophy in the notes.

I am confused by the history, though. It says she is allergic to, but also using topical estrogen. As you may know, also, nausea and vomiting, which she has reported, are two of the possible side effects (and it's a long list) of the cream.

So I am wondering about the cream... There are other meds for hot flashes, dryness, etc.

She is also on tizanidine and Lyrica, two powerful CNS medications that can harm as well as help. I see that the idea is to reduce her Lyrica due to cognitive side effects but if she was titrated up due to pain, there needs to be another solution and I'm not sure it's a second drug, esp. long term. At 58, she should have a lot of life ahead.

Tizanidine is used in spasticity, but especially if she uses caffeine, she may be getting more than is needed (down to nothing), and it also magnifies the effect of Lyrica, so the two together pose a particular risk for dizziness, etc. If it's being used for gastroparesis, then careful titration and monitoring would certainly be desirable given her nerve problems/pain, but honestly I would get a second gastro's opinion on the dx/tx because there are more specific gastro drugs and that part is iffy to me.

In any case, I would make sure the docs all have the same drug list.

As for the L5 radiculopathy they are talking about, I would ask about a PT evaluation to try to address her pain. All else equal, much better to get therapy, optimize exercise etc. than stay on the drugs she is on now, honestly. Even PPIs have their warts.

The tongue issues you describe really sound more like possible drug effects to me (and Lyrica is a known tongue pain offender, but also a treatment for it -- par for the course in CNS rx) than any disease, though there is a burning mouth syndrome that just pops up for some, that some combination of drugs should treat.

I'm not a doc and don't even play one on TV, but I don't see ALS in this at all (nor did the tests or docs). What I see is someone who needs a good PCP to herd the cats, reconsider/titrate/monitor all the drugs and be willing to consider PT and other modalities. I would scout UTSA internal medicine, for starters, and all your usual networks for someone like that.

Best,
Laurie

 

[rabbit1]

Laurie and Tillie,

I can’t express how much it means for you to take the time to try and help other people when you have lost so much.

I am so greatfulthat neither of you see any signs to point to ALS. And that really helps ease our minds and be able to move forward and see what really could be causing all of this.

I will pass along all of your thoughts and opinions to her and my dad.

I pray that one day ALS is cured and that God is with you on your journeys.

Thank you so much again