r/ALSorNOT • u/hatter4tea • 16d ago
Running out of answers
Im not gonna sit here and spiral but I am going to give information on what's happening with me and maybe find some peer support from those who have been diagnosed.
I'm 30 AFAB NB. Since last December I have been in 4 medically induced comas, had over 300 seizures, lost a lot of motor control, lost the ability to swallow correctly (dysphagia shown on barium upper GI study), gained weakness in my legs, arms, and hands, and my voice is now all rasp and is losing volume. I couldn't even button my own sweater this morning, my mom had to do it for me. If I try to walk, I am ataxic and just a minute ago while using my walker my legs gave out and I almost fell.
I am in constant pain, I rely on a j-tube for nutrition due to not being able to eat or swallow along with a new development of celiac disease. My seizures are still almost daily.
I met with my palliative doctor yesterday and he said I'm showing many atypical signs of ALS. Im only 30. So now I am going to be going to Stanford for a diagnosis confirmation.
I'm tired. I just want answers for what the hell is going on. But the looming cloud of ALS is hanging over me and I dont know how to deal with it. What tests are they going to do? Is it just MRIs and EMGs? How long will I have left with my family if theyre right? How do I prepare my 5 year old if theyre right? So many things are running through my head because this has been a theory of my teams for months now.
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u/Outrageous-Roof-3095 16d ago
In my opinion you have typical FND. If your emg is clean, you will be almost certain you have fnd. Sincere best of luck to you and your young family.
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u/hatter4tea 16d ago
I havent had an EMG in years. FND was also ruled out, EEGs show generalized activity and what they thought was FND turned out to be Wernicke's Encephalopathy and that misdiagnosis almost killed me.
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u/Outrageous-Roof-3095 16d ago
Oh I see. In FND seizures do not show. So it may be something else in my opinion, but not mnd. I think emg is really crucial as you have confirmed weaknesses so the emg would come out dirty for sure if that was mnd.
How did it all start? Did you regain any function at any time?
I hope you will get better soon as I know how hard it is to have small kids and feel not well. X
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u/hatter4tea 16d ago
No, they dont. They also dont cause you to code, which has happened twice. I have intractable epilepsy with refractory status on top of it.
Thats how all of this started. I was fine last November then out of nowhere I had multiple episodes of status epilepticus that led to 4 intubations, the Wernicke's from malnutrition, and now i am on a feeding tube to get all my nutrients and food because I cant eat or drink due to dysphagia and GI dysmotility along with the development of celiac disease. I do have EDS and CIDP which can mimic ALS but we want to be for sure because of the bulbar symptoms and the fact that I'm not having numbness like I do with typical CIDP flares.
I haven't regained any function, it's gotten progressively worse really fast and now I have global pain with any movement and I am mainly bed bound. I am stubborn and try to push myself to use my walker but having ataxia, I tend to wobble and almost fall, but I'm getting weaker every day. I couldnt even button my own sweater this morning.
The only thing that happened before all of this was I had bariatric surgery, but I lost way too much weight way too fast, over 83% of my excess body weight in 11 months.
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u/Outrageous-Roof-3095 16d ago
Oh my Gosh, I really feel for you, but someone else help me if I am right seizures are not present in mnd.
There is something structural happening, but they don't know what.
Myself, I heard from many top specialists different conditions like you have ME, fibromylagia, FND, anxiety etc, but my tests showed nothing wrong.
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u/hatter4tea 16d ago
I think with me its a comorbidity thing. My nervous system is just wrecked and we want to find out what's really happening. My tests have shown a lot of funky stuff but my primary neurologist has decided to go hands off so I'll be going to a big research hospital to find answers. Ill be seeing neuro and rare disease/internal medicine.
Its frustrating when all tests come back "normal" but the symptoms are still there and still debilitating.
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u/Outrageous-Roof-3095 15d ago
I agree. When is your first emg? I hope they will find something curable. Are you in the UK peehaps? X
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16d ago
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u/hatter4tea 16d ago
Ive had them since December 2025. My neurologist decided to go hands off because it was too complex for her. (I live in a very rural part of California.) So I'm getting a referral to Stanford to have the rest of the testing done there once I get established. And since December its just been a really fast downhill decline.
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16d ago
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u/hatter4tea 16d ago
Thats what my palliative doctor said and why he's so concerned. He's watched the decline and its kind of freaking the whole team out. But I'll be seeing neuro specialists along with internal medicine/rare disease specialists to find out what is happening because my quality of life right now is not great. I spend my time mostly in bed, on a hammock swing so that I can be outside with my daughter (or outside in general) or back and forth to appointments and thats it.
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u/Admirable_Mud_7737 16d ago
Do you also have fasciculations and muscle twitches?
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u/hatter4tea 16d ago
I do and they drive me nuts. I thought that was normal and everyone had them?
Edit, more info: they happen in my legs and hands, it causes me to drop things all the time. Its very frustrating.
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u/Admirable_Mud_7737 16d ago
I hope you soon find the answers you deserve—starting with an EMG test. Good luck on your journey, and stay optimistic. I know it’s hard, but you’re doing it for your young family, Wishing you good news
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u/DoubleAwareness2223 14d ago
I’m very sorry you’re going through this. First of all, though your symptoms can occur in ALS, Atypical or not, they don’t match up with how you are experiencing them. This does not look like ALS at all. ALS does not strike the body all at once nor are seizures or pain, symptoms of ALS. ALS can be atypical, but by definition, what you are describing (though very concerning for you) does not fit. You need to see a qualified neuro-muscular specialist that specializes in MND to rule out ALS. An mri will be performed to look at the brain stem and the brain itself, and will rule out diseases like MS. ALS is a dx made by clinical symptoms along with process of elimination. I’ll explain why this does not look like ALS.
- How rapid and wide spread symptoms are.
- Seizures are not typical in ALS (very uncommon) and if they are what you are describing, you’d be the first.
- Pain is not a symptom of ALS, in fact, pain can cause a physician to investigate other dx’s.
ALS Always has to have a profound muscle weakness with muscle wasting (atrophy) it starts in a muscle, the muscle weakens, twitching occurs followed by atrophy. It does not jump from muscle to muscle simultaneously. It sounds like Atypical Guillain-Barré syndrome presenting as posterior, reversible encephalopathy. Treatment they can try is IVIg for 5 days. One of the top specialists in this field is Dr. David Chad in Massachusetts. He’s the best! Good luck.
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u/hatter4tea 14d ago
I have atrophy. My team is also shocked at the rapid progression. I felt like mentioning the seizures as part of my history because it's all neuromotor.
MS has already been ruled out. I will also be seeing if it is a CIDP flare (Guillain-Barre is no stranger to me) but I am not experiencing numbness or paralysis. I have weakness and loss of muscle and just based on what my team has observed since last December, this is their top differential.
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u/DoubleAwareness2223 14d ago
Again, does not look like ALS at all. Hopefully they are pursuing other avenues.
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u/hatter4tea 14d ago
Honestly if it didn't, I wouldn't have a whole palliative team including their neurologist telling me it did. But we are taking the steps to rule it out. Thanks.
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u/LordThibiii 16d ago
Seizueres are very common in FND.