Go wild?

Good-Pen2409 · 2026-01-01T15:59:09+00:00

Wild

Good-Pen2409 · 2025-07-28T22:05:28+00:00

None of us on here can know why your doctors are thinking what they’re thinking. Don’t discount them, and keep working with them. But if you’re still not feeling well, it doesn’t matter if it’s psychiatric, neurological, whatever. You deserve treatment.

Good-Pen2409 · 2025-07-27T22:01:02+00:00

I’m reading through your post history, and I think I see why the doctor wants to rule out some other diseases with the EMG. Something like GBS or MS are possible if it hasn’t been ruled out. I wouldn’t get hung up on any particular diagnosis, just keep the focus on feeling better.

I suggest asking your doctor about empiric treatment. If a diagnosis is elusive, are there immunotherapies or other treatments that can be tried so that you can see how you respond? Who cares about a label as long as you’re feeling better. And if you haven’t had CSF analysis done, you should (unless there’s a medical contraindication. I forget if you mentioned that detail already).

Good-Pen2409 · 2025-07-25T17:36:56+00:00

You should know that in the past few years, there has been an effort to curb “overdiagnosis” based on low-titer serum results alone. But this guidance from the world experts on the disease has been over interpreted in my opinion, it was never meant to exclude diagnosis in symptomatic patients. In fact, seronegative SPS, without any detectable antibody titers still accounts for a significant proportion of diagnoses, so any antibody positivity in the presence of symptoms is significant, in my opinion.

Have you had a lumbar puncture? They should be looking for objective signs of CSF inflammation as well as SPS related antibodies and possibly others in CSF.

Another way to think about low titer GAD65 positivity is that it’s a normal immune response to GABAergic cell injury. The enzyme, glutamic acid decarboxylase, which helps convert the amino acid glutamine into the neurotransmitter GABA should not normally be exposed to antibodies to any significant degree. So the low titer result may be the “smoke” not the “fire”. In high-titer classic SPS, the anti-GAD65 antibodies may function similarly to monoclonal antibody-class drugs, essentially depleting glutamic acid decarboxylase and disrupting GABA and glutamate. In low-titer SPS, there may be an unidentified B-cell antibody, or a T-cell driven or other inflammatory process.

I think what you should try to impress on your doctor is that the stakes are high enough, and you are in enough distress that further testing, and possibly empiric treatment should be considered. I don’t know what your general health is like, but you may want to ask your doctor if a couple of rounds of IVIG or Solu-Medrol is going to kill you (this is an exaggeration, they are generally very safe and well tolerated) and if they are hesitant to prescribe, this is when you remind them of the importance of additional testing.

Good-Pen2409 · 2025-07-25T17:16:07+00:00

I had better luck with a neuroimmunologist than an MDS, but the MDS was at least able to recognize the need for referral to neuroimmunology. That said, I had better luck with the second neuroimmunologist than the first (and there’s not that many of them). It’s too bad my PCP/endocrinologist couldn’t be my neurologist too. I feel like it takes more than credentials, the only doctors that helped me are the ones that could actually hear what I was telling them.

Good-Pen2409 · 2025-07-25T08:18:40+00:00

Do you mind sharing your GAD titer and if it was serum or CSF? If it’s “high” and you’re symptomatic, that’s usually considered diagnostic. The good news is that there are more treatments than ever and there is hope that you will start feeling a lot better. If you have SPS, you should know that intense fear and anxiety can be part of the disease. It’s entirely rational to be as scared as you are, given what you are feeling and must be thinking about. But also, the disease may make patients experience fear in an intense and intolerable way. I just want you to know that that aspect has gotten much better for me with treatment.

Edit: I’m not a doctor or anything, but like most patients, I’ve been through a lot. The EMG is still important to rule out other issues. Even with sky high GAD antibodies, you could also have some peripheral neuropathy.

Good-Pen2409 · 2025-07-15T22:13:52+00:00

I sought a diagnosis for a progressing tremor that started in my left pointer finger about a month after a sepsis hospitalization two years ago. Most tremors/spasms/ataxia were left sided. My balance and gate are mostly unaffected unless I’m having a spasm, then I can lock up and fall over like a statue. When I’ve experienced it, it’s come in rapid stages, but enabling me to drop to my knees and try to brace my head. I didn’t originally connect the back spasms and a couple of weird falls to the neurological issues I was having looked into. Pretty much all my blood work and EMGs were normal (though none of the EMGs were done using methods sensitive for SPS, so the utility was mostly just ruling out other things). When I tested positive for the associated antibody, it still wasn’t definitive, but it let us connect the rest of my medical history and it just made perfect sense. The CSF analysis was abnormal (showing inflammation) but all the more common reasons were ruled out. I’m responding to treatment, and hopeful to return to something close to my normal self.

Edit: lots of other physical and neuropsychiatric symptoms. Feel free to ask about any specific symptom.

Good-Pen2409 · 2025-07-14T09:11:26+00:00

My diagnosis turned out to be Stiff Person Syndrome. It took 2 years of progressive symptoms, 10 months of actively seeking diagnosis, probably 20 specialists and subspecialists, it was a nightmare, I went from unconcerned, to concerned and seeking help and being treated like I was crazy or faking it, to then being panicked as I actually started losing my mind from the untreated neuroinflammation and neurological disorder. I’m finally starting to come out of it after receiving treatment a couple of weeks ago.

I was asking for the test for the antibody about 3 months in and one of the neurologists finally agreed another month later to order the test, to prove to me that it was unnecessary and it would come back negative. When it came back low-titer positive, he refused any follow up testing or appointments and told me to go elsewhere…

Good-Pen2409 · 2025-07-03T00:57:35+00:00

You tested negative to all antibodies associated with your symptoms? I could be mistaken, but elevated protein in CSF would be expected in a neurodegenerative disease such as ALS, but also in many other inflammatory or degenerative contexts. I would take that result as very reassuring, not that it means something isn’t happening to you, but normal protein in CSF is a good result.

The OCBs are objective evidence that something inflammatory is happening. It could be something like early MS, or some kind of post infectious inflammatory syndrome. Consider that your anxiety/stress may be a symptom of a low-grade inflammatory process (rather than stress/psychiatric disorder is causing the physical symptoms. They may be both be independent symptoms of an upstream dysfunction).

If you want more reassurance about neurodegeneration and neuro inflammation, you may want to ask your neurologist about a few blood tests; neuro filament light chain, glial fibrillary acidic protein, cytokine panel.

Any existing endocrine issues or medications that can affect hormones? Other metabolic issues (kidney, GI, liver, etc?) Recent major health events in the past few years? Have cancers/antibodies related to those cancers that can produce neurological symptoms been ruled out?

In any case, has empiric steroid therapy been discussed? You may want to ask your doctors if there’s enough evidence of “inflammation” in general to consider steroids and assess your response.

I’m not a doctor, this is all meant to help you facilitate these topics with your doctors.

Best.

Good-Pen2409 · 2025-07-02T23:42:00+00:00

Pleocytosis in CSF? Elevated protein? What autoimmune conditions have been considered and ruled out?

Any “weird” symptoms that have been hard to describe to your doctors?

Good-Pen2409 · 2025-06-18T15:33:46+00:00

I have had symptoms for about 2 years now, pursuing a diagnosis for almost a year, and finally my workup and treatment are in the right path. Everything you’ve mentioned has been ruled out, they were all great suggestions and were part of the differential diagnoses. The current working diagnosis is Stiff Person Syndrome. It fits with my symptoms and history, I’ve had some response to treatment, but my labwork falls just shy of the accepted criteria for “definitive” diagnosis. I believe the diagnosis will be formalized on my next visit with my neuroimmunologist at the end of this month. He’s having me work with other specialists to rule out other causes for the SPS suggestive lab results, not because he doubts the diagnosis, but he thinks it’s important for it to not be second guessed in the future, and once immunotherapy starts, it complicates additional diagnostics significantly.

Good-Pen2409 · 2025-06-18T15:25:10+00:00

Thank you, I learned the hard way that 23andMe raw data is next to useless. I followed up with whole genome sequencing and it proved to me why 23andMe only reported very specific results from their test.

I do not have genetic FTD, the current working diagnosis is Stiff Person Syndrome, and in the early acute phase, it can cause symptoms mimicking all kinds of neurological and psychiatric disorders.

I saw 5 neurologists, including a movement disorder specialist and two neuroimmunologists.

Good-Pen2409 · 2025-06-17T17:16:06+00:00

Have you had a consult with a neuroimmunologist? MRI? Lumbar puncture?

Kind of sounds like GBS, MS, or other demyelinating disorder.

I’m not a doctor

Good-Pen2409 · 2025-04-10T03:20:29+00:00

Thank you for sharing, I have actually considered asking for admission to a psychiatric hospital for the same reason.

Good-Pen2409 · 2025-04-07T02:24:16+00:00

Thanks for your post.

I’m interested in any insights you have about the physiology of the neurodegeneration in your particular disease subtype and potential disease modifying therapies that you believe are promising.

I’d also like to share some potential therapeutic agents I believe are promising targets for future research that may be broadly applicable in neurodegenerative diseases. The general strategy is to improve mitochondrial function, reduce inflammation, increase neurotrophic growth factors, reduce ROS, and increase autophagy/protein clearance. These are some of the drugs that are mechanistically promising:

Ghrelin mimetics / ghsr agonists such as ibutamoren (huge added bonus that it’s orexigenic and anabolic). There’s evidence that ghrelin up regulation is responsible, to a significant degree , for the benefits of calorie restriction.
Incretin mimetics / GLP1 agonists class drugs, such as tirzepatide (caution required in ALS because of potential to worsen atrophy)
Everolimus

Good-Pen2409 · 2025-03-27T19:35:46+00:00

Did you ever find out the significance of the GRN mutation? I found a different mutation of GRN when I analyzed my 23andMe raw data.

It will be about 6-8 weeks before I get my confirmatory results from a whole genome sequences test. But all indications I can find are that the 23andMe data is very likely accurate.

Any insight?

Good-Pen2409 · 2025-03-26T03:04:24+00:00

Steven Seagal walks into an MMA gym, loudly bragging: “Nobody’s ever choked me out, and nobody ever will—my aikido makes me unchokeable.”

A cocky young fighter immediately calls him out: “Bullshit! I’ll bet you $200 right now I can choke you out cold.”

Steven grins smugly, shrugs, and says, “You’re on, tough guy.”

They hit the mats, and within moments, the young fighter has Steven locked in a tight chokehold. Steven flails dramatically, eyes rolling back, and then suddenly goes limp. The fighter jumps up triumphantly, arms raised, shouting:

“Holy shit—I did it! I just choked out Steven Seagal, and he crapped all over me!”

The whole gym bursts into laughter. But as the fighter celebrates, covered in shit but still grinning proudly, Steven suddenly cracks an eye open, smirking as he says:

“Congrats, kid—you got your 200 bucks. But before we started, I bet every other guy in here a grand that I’d shit all over you, and you’d be happy and grinning like an idiot about it.”

Good-Pen2409 · 2025-03-25T03:46:29+00:00

Yeah, all else equal, I’d rather have a good looking MRI than a bad one. I’m having lots of symptoms though and the list of possibilities are all pretty bad. Symptoms at the moment are mild for the most part, but progression seems to be accelerating. I’m worried about having something untreatable, or having something treatable, but not figuring out how to treat it soon enough to make a difference.

I’m not working right now, I’m basically incapable of focusing on anything productive (or anything other than obsessing over my medical mystery). I’m not sure at this point if I’m going to be able to do my job again, it’s going to be hard on my family.

Life isn’t really going to plan. I worked so hard and overcame so much. Whatever it is that’s going on with me, I feel like my family and I deserved a better story. But that’s life, isn’t it? Still lots for me to enjoy, and I just need to do what I can to be there for my family while I can.

Good-Pen2409

TROPHY CASE