New Diagnosis and New Docs: Autoimmune Encephalitis, SFN and a Neuroimmunologist

[Hoosierfans]

Hey all!! It's been a LONG, STRANGE trip as they say, but after over a half of a year of testing (still more to go), we FINALLY have a definitive diagnosis that fits my symptoms and disease progression! I've had so many people here who have offered so much help to me over the last 2+ years, that I would be remiss if I didn't start of with a big THANK YOU to @Learner1, @Hip, @mitoMAN, @Gingergrrl, @crypt0cu1t, the late SK2018 (for sharing his story) for answering countless questions, suggesting testing and physicians, pushing me to continue to dig down for answers...all of which have ultimately led me to a definitive diagnosis and new physicians with new treatment plans in the very near future! . For more than 10 years I've chased various "suggestions" by various medical professionals and mostly functional medicine docs -- its Lyme! It's co-infections! It's mold! It's thyroid! It's [fill in the blank with their pet issue de jure}. But none of it ever *quite* fit my symptoms, nor did I get better with their suggested treatments (some of which went on for years -- hello antibiotics!), and usually was supported, at best, with "patterns" in my bloodwork suggestive of that particular diagnosis (i.e. CIRS /mold) but the markers of which could have indicated any number of other issues.

My diagnosis: Autoimmune Encephalitis with Comorbid Small Fiber Neuropathy and / or Chronic Inflammatory Dymelinating Neuropathy

Symptoms: Intense dizziness 24/7, lightheaded, hypotension & POTS, brain feels 5 x larger than my head, skin / nerve burning all over arms, legs, face and inside my brain, cognitive decline (used to be an attorney, now I have severe difficult following a recipe), severe memory issues, akathesia, intense anxiety, depression (sometimes bordering on suicidal), fatigue, food sensitivities, sensory sensitivity (especially multiple people talking or sounds at one time).

Current ME /CFS scale: Severe

I wanted to start this post to pass along any knowledge I have gained along the way, and in case anyone else sees themself in my symptoms. This started with mono for me in 2006, and I've seen over 50 physicians all over the country. But they all seemingly missed doing the right tests or digging down enough, until I started working with my current internist last fall. I've been accepted into the practice of a neuroimmunologist whom I will see in about two months, and I anticipate that we will be pursuing IVIG and possibly meds like Rituximab etc. So, this thread will track my progress. I also have an appointment with an immunologist who specializes in PANDAS / CANS and will be meeting with him to get his opinion on how to proceed.

I am so grateful to this community and the wealth of knowledge it has. I have brought several pieces of information regarding testing, medications to try, clinical studies etc. to my internist from this group...and that led him and I to where I am today -- with FINALLY a definitive diagnosis and treatment path that can get me healthier.

 

[pattismith]

this is great!
Thank you for sharing your journey to health !
Your story and the tests that gave significant results leading to a diagnosis will help many others in the future.

I will follow the progress you will make with the help of your wonderful docs

 

[Judee]

Can you let us know what tests your internist used?

 

[PisForPerseverance]

So happy for you. I'm looking into the same things. My biopsy is today. Did you do an emg?

 

[Hoosierfans]

Can you let us know what tests your internist used?

Yep that was my next post when I have some energy this afternoon. I’ll list all the tests I had (including those that were negative as they helped rule out other causes). 👍🏻👍🏻👍🏻

 

[Hip]

My diagnosis: Autoimmune Encephalitis with Comorbid Small Fiber Neuropathy and / or Chronic Inflammatory Dymelinating Neuropathy

Congrats for getting to the bottom of it. I hope that this soon leads to some effective treatments.


I remember watching a TV documentary years ago about a young woman who had developed NMDA receptor autoimmune encephalitis. She developed major psychosis and schizophrenia symptoms, so was placed in a mental health ward, with nobody actually knowing she had this form of autoimmune encephalitis (NMDA receptor encephalitis was only discovered about a decade or so ago).

It was only the persistence of her sister, who would not accept the schizophrenia diagnosis, that actually led to the diagnosis and treatment of this autoimmune encephalitis.

 

[Hoosierfans]

Congrats for getting to the bottom of it. I hope that this soon leads to some effective treatments.


I remember watching a TV documentary years ago about a young woman who had developed NMDA receptor autoimmune encephalitis. She developed major psychosis and schizophrenia symptoms, so was placed in a mental health ward, with nobody actually knowing she had this form of autoimmune encephalitis (NMDA receptor encephalitis was only discovered about a decade or so ago).

It was only the persistence of her sister, who would not accept the schizophrenia diagnosis, that actually led to the diagnosis and treatment of this autoimmune encephalitis.

I saw that documentary as well. Was that Brain on Fire? (maybe that was another one that dealt with AE). I have been asking to be referred to neuroimmunology for YEARS (even begged the neurologist at Mayo), and was refused...either based on doctors having treatment priorities (i.e. let's treat for mold first and see if that helps) or looking at a singular negative test, like an ANA, and a doc shrugging his shoulders and saying "I don't know what to do with you."

 

[Zebra]

Yep that was my next post when I have some energy this afternoon. I’ll list all the tests I had (including those that were negative as they helped rule out other causes). 👍🏻👍🏻👍🏻

Hi, @Hoosierfans

First and foremost, I am so damn happy for you!

Second, I really appreciate you creating this thread and your desire and willingness to share detailed information with us, when you are able.

I'd be really interested to hear about your neuro-immunology appt in 2 months.

I really value those PR members who stick around to lend a helping hand, or even extend a life line, to help others.

I will continue to follow your story and I, truly, wish you the VERY best.

Warmly,
Z

 

[godlovesatrier]

Would also be interested to know what tests you got although reading about it online the tests are only partially diagnostic. It didn't really say what the overall diagnostic criteria was.

Glad you finally got a diagnosis though. Thanks for sharing the information

 

[Hoosierfans]

Here's a list of tests that I've had done, or were or have been on my list to consider. Ones with a are ones that came back positive and led to my Dx.

Regular Blood Tests (screening out big, typical malfunctions):

• CBC with differential
• CMP
• Cortisol, ACTH (to rule out Addison's etc.)
• Thyroid: Free T3, Free T4, TSH, Reverse T3, thyroid antibodies

Blood tests for nutrient deficiencies (that may result in autonomic dysfunction or neuropathies)

• Iron panel (Ferritin, TIBC, Iron Saturation, total iron) (I do have a deficiency and require infusions)
• B12 deficiency / Pernicious Anemia (Serum B12, folate, methylmalonic acid (MMA), homocysteine, Parietal cell antibodies, intrinsic factor antibodies)
• Copper deficiency or Wilson's Disease (copper excess) (Serum copper, serum zinc, ceruloplasmin, 24 hour urine copper, eye evaluation for KF rings, liver ultrasound). (I have a copper deficiency that is being corrected by supplementation)

Autonomic Dysfunction tests

• Regular monitoring of blood pressure, heart rate, oxygen saturation and oxygen perfusion during the course of daily activities and during changes in position
• Tilt table test (fail it miserably every time they give it to me! ).
• Autonomic function testing (can't recall the exact name of the test, but it involves doing exercises like deep breathing and fully breathing out until basically you pass out)
• Serum evaluation of norepinephrine and dopamine levels at laying down, sitting, standing
• QSART (have not had this done but on my list to consider) (evaluates how nerves in sweat glands respond to stimuli)
• Thermoregulatory sweat test (ditto to the QSART)

Lyme / Mold / CIRS

• Igenex Panel for Lyme and Co-infections (suggested positive)
• Armin Panel for Lyme and Co-infections (negative for all)
• Galaxy Diagnostics for Bartonella (Dr. tracked titers to see if they responded to Bartonella meds; they did not so that ruled out Bartonella)
• CIRS / mold labs: CD3, CD4, MMP-9, MSH, TGFBeta-1, (many were elevated significantly); VEGF (low)
• Cytokine Panel: I have not had one but is definitely on my list to do.
• Mycotoxin urine (Real Time Labs) (showed some evidence of mycotoxins)
• MARCONS Nasal Swab (Microbiology Dx)
• HLA DR/DQ (genetic test for succeptibility to mold illness)
• GENIE test (via Shoemaker's lab): this test was incredibly expensive and NOT particularly helpful. Candidly I don't know one patient who has been helped by it and the "patterns" it reaches diagnostic conclusions based upon
• NeuroQuant MRI

ME / CFS Associated Infections

• Generally have followed @Hip 's Roadmap for testing, which for me included:
• EBV titers, including PCR (high IGG results, EA is sometimes positive, sometimes negative)
• CMV
• HHV-6 (high IGG results, but others were negative / normal)
• Enterovirus testing through Arup labs (Coxsakie B -- positive, Echovirus -- negative)
• HSV 1, 2
• Mycoplasma Pneumonia

Autoimmune / Antibody Testing

• ANA Reflex w/ Titer (sometimes negative, sometimes positive)
• Immunoglobulins A/M/E/G
• IGG Total with Subclasses. (low in 2 subclasses).
• Cyrex Array #5 (covers a lot of autoimmune antibodies including those for Pernicious Anemia, Lupus, Autoimmune thyroid diseases, Myasthenia Gravis, Lupus, liver autoimmunities, Celiac Disease, Stiff Person Syndrome, MS, PANDAS, CIDP, and other demylinating diseases). I did not have this entire panel done, but some of its components were run over the years via Quest labs and were negative. I am now positive for Anti-Tubulin antibodies.
• Celltrend CFS Panel (covers Anti Alpha-Adrenergic antibodies, Anti Beta-Adrenergic antibodies, and Anti-Muscarenic Antibodies 1-5, Anti-AT1R antibodies and Anti-ETAR antibodies). I am HIGHLY positive for AT1R, ETAR, Alpha-Adrenergic, Beta Adrenergic, and 2 of the 5 Anti-Muscarenic antibodies.
• Celltrend Small Fiber Neuropathy Panel (Anti-FGF antibodies, Anti-TSHDS antibodies). I am positive for Anti-TSHDS antibodies.
• Cunningham Panel (tests for neurological antibodies). I am positive for Anti-Dopamine Receptor antibodies, Anti-Tubulin antibodies and high levels of CaM Kinase II.
• Sensory Motor Neuropathy Panel (LabCorp). Was negative for all of these.
• Mayo Autoimmune Encephalitis Panel. This is a great panel, which I have not had run yet.
• Mayo Autoimmune Dysautonomia Panel. Ditto.
• Miscellanous Antibodies related to ME / CFS (I've had some of these run but not all. Credit to @Learner1 for this list: Anti-mitochondrial antibodies (Labcorp), Anti-smooth muscle antibodies (Labcorp), Anti-Cardiolipin antibodies (Labcorp), Rheumatoid Factor (Labcorp), Beta 2 Glycoprotein (Quest), Lupus Anticoagulant (Quest), Anti-Phosphatiylserine (Quest), Anti-prothrombin (Quest), Anti-Annexin V (Quest), Anti-phosphatidylethanolamine (Quest), ENA (Quest), SS-A & B (Quest), Anti-TTG (Quest), Anti-Gliadin (Quest), HLA-B27 Antigen (Quest)

Mast Cell Activation Syndrome (serum / urine)

• Tryptase. (although I have some abnormal mast cell markers I have yet to respond to any of the MCAD meds)
• Eosinophil Catatonic Protein
• 24 hour urine for N-methylhistamine, prostaglandin D2, 11B-prostaglandin F

Imaging / Sampling

• MRI (head) with contrast (mine are mostly normal with some small abnormalities that have been determined to not be clinically significant -- let's see what the neuroimmunologist says ).
• MRI (spine) with contrast. To check for CSF leaks. Mine was negative.
• Biopsy of peripheral nerves (thigh / legs) -- still to be done!
• Biopsy of autonomic nerves -- still to be done!
• EMG -- have not had done but am going to request

Miscellanous tests
(these tests I've found somewhat helpful and they may help to rule in / out issues such as mitochondrial function, nutrient deficiencies, gut dysbiosis etc. etc. but ultimately they didn't illuminate my ultimate issue):

• MitoSwab test for Mitochondrial Dysfunction. (Mine was abnormal)
• NutraEval and / or Organic Acids test (nutrient deficiencies, gut dysbyosis, energy utilization)
• Leaky gut tests: Cyrex Array #2 (Antibodies / immune reactivity to Zonulin), Labs4Life Zonulin Stool test, Genova Lactulose & mannitol challenge test.
• Dutch test: tests hormone and metabolite levels

I think that covers *almost* everything that I've had done, plan to have done or would like to have done. The one thing I am not up to speed on is T cell function, thus I'm not sure whether I've been evaluated for it. Hopefully someone with more knowledge than myself can weigh in on what testing needs to be done to evaluate T cell issues.

 

[junkcrap50]

Wow that's a hell of a lot of testing and very thorough. Great post and resource for others! Thanks for compiling. I've done many of the same, but over 12 wasted years. Wish I just got them all done at once in the beginning, like every suspected CFS patient should.

Cyrex Array #5 (covers a lot of autoimmune antibodies including those for Pernicious Anemia, Lupus, Autoimmune thyroid diseases, Myasthenia Gravis, Lupus, liver autoimmunities, Celiac Disease, Stiff Person Syndrome, MS, PANDAS, CIDP, and other demylinating diseases). I did not have this entire panel done, but some of its components were run over the years via Quest labs and were negative. I am now positive for Anti-Tubulin antibodies.

Have any of your doctors taken the Cyrex Labs Autoimmune Panel test seriously? For the autoimmune panel I tested positive for like 2/3rds of everything they have. But every doctor either says they're not familiar with that lab and don't trust them. (Even though these are the same off the shelp benchtop lab assay kits that any other lab or research lab at a university uses.) Or, they look at each antibody and go to the end point organ failure pathology and treat it as a binary yes or no. For example, "Islet Cell = High" -> "you don't have diabetes" or "Myelin Basic Protein = High" --> "you don't have MS." They don't consider that before people develop autoimmune diseases, they have these antibodies destroying the tissue for several years. So, lets treat it BEFORE you develop some horrible autoimmune disease. One doctor did prescribe hydroxychloroquine as a prevention because it can also help in chronic fatigue. So I'm glad about that.

I've been needing to retest this Cyrex panel and see if there's any improvement with hydroxychloroquine, GFDF diet, and gut healing. I think I should get Cell Trend panel too just to be thorough. I forgot about the Cunningham panel.

 

[Hoosierfans]

I will follow the progress you will make with the help of your wonderful docs

Awww, thanks @pattismith. I have hope now, which for a long time I haven’t. And hope is a wonderful thing, isn’t it!?!!!

I really value those PR members who stick around to lend a helping hand, or even extend a life line, to help others.

I will continue to follow your story and I, truly, wish you the VERY best

I do too...they have been life changing for me so I am hoping I can in some small way pay it forward. 🤗

Would also be interested to know what tests you got although reading about it online the tests are only partially diagnostic. It didn't really say what the overall diagnostic criteria was.

Yes, it isn’t clear to me either but I *think* my doc is going off of the fact that I have anti-neuronal antibodies (the ones in the CellTrend panel have activity against the CNS and vascular system, the Cunningham ones goes after the brain) PLUS my neurological symptoms.

 

[vision blue]

Congrats youre going to get a treatment you feel will help you! Some people helped a great deal by IG treatment as you know. Theres something amusing that only a person with CFS would be thrilled to hear they have encelhalitis and possibly demyleinatibg neuropathy! But i know exactly what you mean.

did your antineuronal antibilodies also come from a lab like Mayo? I’m skeptical of that German lab.

At mayp my “ANNA”s were all negative tho was some years ago and wonder about now since i think i have enceplhalitis. But going to docs, persuading them, going for blood work all seems so difficult - and risky - now
(i remember having long argument with a smart neuro who tried to argue i didnt have the symptoms of nmda antibodies but my argument was that doctors kept patients from getting the test and limited it to only those with the “classic” symptoms- thereby making it a self fulfilling Phrophecy. Of cousre only those with classic symptoms would be positive- because no one will test people with other symptoms v(As it turns out, the panel i took didnt have them...)

. Happy celebrating.

 

[Hoosierfans]

@junkcrap50, actually all these labs were done over about a 13 year period lol! So yeah, its been a long time and a hell of a lot of testing. Fortunately, my internist was up for the challenge and I said to him in the fall -- can we please just test for whatever you and I can think of (that fits my symptoms) and if we don't find anything I'll resign myself to having some idiopathic disease no one can identify and we will move into "symptom management" mode (vs. diagnostic). He agreed and we started testing last October. So a good portion was done over that 13 years prior, but also a good portion in the last 6-8 months.

Regarding Cyrex, I actually didn't test positive on any of those panels (waiting on Cyrex #2), but rather the Celltrend and Cunningham. My internist absolutely took Celltrend seriously (I think @Learner1 has some studies validating those antibodies) and the Cunningham ones. And, the neuroimmunologist I have an appointment with only agreed to take me on as a patient after seeing the Celltrend results. So I assume he's taking them seriously.

I should mention, though, that my autonomic neurologist, told me before the Celltrend came back positive that "even if you come back positive on those, there is nothing I can do. The treatment would be IVIG and I've never been able to get that approved." I think he's a great doc, and I've worked with him for about 5 years, but even when the results came back positive he wasn't willing to pursue immunotherapy for me. Ironically, the neuroimmunologist who I am seeing is in the same Neurology Dept. as my autonomic neuro.

@vision blue my anti-neuronal antibodies came both from Celltrend and from the Cunningham Panel. I haven't yet done the two Autoimmune Panels through Mayo I listed above. We may do them after I see the neuroimmunologist, or if we have troubles getting IVIG approved by insurance. But my internist thinks we have enough "ammo" now to justify IVIG.

 

[Hoosierfans]

So happy for you. I'm looking into the same things. My biopsy is today. Did you do an emg?

Are you having a peripheral nerve biopsy or an autonomic nerve biopsy, or both? Hope it went well!!

 

[5vforest]

Really grateful to you for sharing all this!

Minor point, and just to satisfy my own curiosity, can I ask what the "suggested positive" on Lyme / co-infections looked like?

 

[PisForPerseverance]

Are you having a peripheral nerve biopsy or an autonomic nerve biopsy, or both? Hope it went well!!

A biopsy for sfn. That's different than what you're talking about right? Did you do nerve biopsies which are deeper? Thank you it did! It doesn't even hurt now which is weird. Just a little. Just took another Tylenol but maybe the lidocaine really did last for hours because you'd think you'd feel it, it's not that shallow!

 

[PisForPerseverance]

I'm doing the Cunningham and autoimmune encephalitis this week. I just did celltrend. Looks like you didn't get a sfn biopsy and aren't planning to. Do you know why you weren't recommended it if you have neuropathy and burning and autonomic symptoms? Maybe your doctors so far don't know what sfn neuropathy is? Maybe your new neurologist will suggest it. My understanding is... A skin biopsy of the small fiber nerves is the only thing that's gunna show them versus a nerve biopsy. But I don't know what autonomic nerve biopsy is and maybe it's the same thing. You may need it in addition to the nerve biolsies. The small fibers are linked to dysautonomia and many with dysautonomia and me/cfs are turning up positive. Mine was at my shoulder, my upper leg, and my lower leg. Just wanna make sure you know about it so that you don't miss it, since with the right advocate you can possibly get it covered for ivig if your other nerve studies and biopsy come up negative and you end up not being able to get it covered for the other stuff. I think you will though, with what your internist said. My doctors been pretty successful with sfn coverage. I'm hoping I get approved too. I'll be following your progress!

Did you have an ocd onset? That and other symptoms are what Cunningham panel is known for I'm sure you know, but those antibodies must also have many many other possible manifestations. I did have an acute ocd onset years before I got sick that's why I'm curious.

 

[lenora]

Hello @Hoosierfans.....I also have Autoimmune Encephalitis and, if you can believe this, developed epilepsy at the same time. I'll be on keppra to control the seizures for the rest of my life. At least I was lucky enough to have the seizures in front of the doctors in the ER.

As you know, we have to work with a psychiatrist b/c a certain part of the brain can be damaged. e.g. After I was admitted and after two days of being unconscious, I began a video chat with the psychiatrist who was in CA, tested oh, the usual....and he was rather surprised that I did as well as I did. I just felt drugged and totally out of it and yes, it did affect my memory.

I hope you were told to be careful of your electrolytes b/c they can play a part in having another episode. That is an ongoing problem for me. The early signs were my l. eye going, followed by my r., and I was afraid I would end up blind. Then my entire l. side collapsed....I couldn't walk at all. My husband said that I looked at him with a blank stare when he asked me a question. So please be careful. I'm glad you're parents are with you at this time.

Funny, I'm rather picky about what I read, but I had read BRAIN ON FIRE shortly before it happened to me. The book is more interesting than the movie...more info, you can imagine. When I returned home, I did watch the movie and even though there was a lot of fluff, it was enlightening. I hope all 3 of us never have a return to that problem.

I'd obviously been having seizures for some time before it was diagnosed. Both types....and it wasn't until a fell all of 6", I realized it was caused by the epilepsy. My husband had just gone into the house for a minute and missed all of that action. I ended up with a broken wrist out of that. Hey, at least I'm even now....both wrists hurt!

I would be interested in knowing what else they told you about AE. As @Hip pointed out, this is still a new illness and not much is known about it. How did we luck out so....not one but two illnesses that probably make us look like fruitcakes to the average doctor and nurse! I have "trained" myself to get back to my reading. I had to begin at a very low level, but that's fine....I did have a goal in mind. I would say that I'm back to about 90% but it did take time. Also that feeling of extreme brain fog and total forgetfulness is finally lifting.

It would be nice to know exactly what the AE is and what causes it. I know that as I age (74) I'm prey for more and more problems, but then that is part of aging. You still seem to be fairly young, so I would encourage you to fight your way back...and fight hard. My best wishes. Lenora.

 

[godlovesatrier]

Really sorry you both have to deal with this illness. Not that it's better than ME. But the way you've both explained it sounds truly horrid. Glad you've both got some treatments and the like.

I can't miss that your both in America and both with decent doctors. I wonder how many in the UK this might apply to who may never get a diagnosis.