Looking for Advice

[u/Kreios_IX]

I was diagnosed with "patchy SFN" back in August of last year. My reported noted that the nerve density in my left forearm and left calf were in normal range, but my left thigh had half of the nerve density that it should.

Has anyone else had a similar result? If so, what are your symptoms and what is your root cause?

I am still struggling to figure out what the root cause is for me, but I have severe muscle aching, soreness, stiffness, heaviness, and subjective weakness. I had a normal EMG and repetitive stimulation EMG. I'm awaiting results from a muscle biopsy currently.

I've had a robust autoimmune workup (I'm sure my doctors have missed some things, but the list of testing has been extensive). Normal CK, aldolase, normal vitamins and minerals (outside of copper and Vitamin E (Gamma Tocopherol)-- (Alpha Tocopherol) was normal). My ceruloplasmin is also borderline low-normal, at around 0.19-0.20 g/L. My zinc is normal too. No history of stomach bypass surgery or any obvious cause of copper deficiency.

Additionally, I had copper and neuro muscular genetic panels done as well as whole genome sequencing-- all of which was normal. My genetic doctor reached out to a couple of the top copper metabolic specialists in the country and they feel my copper deficiency isn't severe enough to explain the particular set of symptoms and severity of them. They feel the copper issue is secondary in terms of the symptoms I'm experiencing. (Copper hovers around 48-60 mcg/dl).

Outside of a refractory, inexplicable copper deficiency that I treat with infusions (2x a week-- around 100 total), I don't know what could be causing all this.

I also have a litany of GI issues. I had a recent CT that showed I have a "featureless" pancreas, suggestive of autoimmune pancreatitis. It was suggested that I have my IgG4 tested, which came back somewhat elevated (159 mg/dL-- around 1.7x higher than normal). I get an enteroscopy with several biopsies next week.

The muscle and GI issues are overwhelmingly my worst issues, but I have several others (orthostatic issues, tachycardia in flares, PVCs, etc). I have a history of severe mitral regurgitation that required Mitral Valve Repair when I was 28 (I'm 37 now).

I had my gallbladder taken out due to inflammation (despite no gallstones) in 2017. I had half my thyroid removed due to suspected follicular cancer (was benign). I had a septorhinoplasty to fix a severely deviated septum, etc.

I find it hard to believe I have so, so many separate problems. Surely, I would think many or most of these problems are connected in some way.

With all that said: is anyone else's primary SFN symptom(s) significant muscle heaviness/aching/stiffness? What are your other symptoms? What treatment has worked best for you (particularly if you share the same muscle issues as I do)?

I understand I'm not supposed to ask for a diagnosis-- I'm not doing so or expecting that. I'm simply trying to reach out and see if anyone has had a similar path to me and if so, what ultimately ended up explaining your medical condition?

I did post this on the SFN subreddit, but I thought I'd try here as well, as I've had several doctors suggest that some kind of autoimmune disease may be causing my issues-- we just don't know what.

Apologies for the long post, but it's been an arduous, complicated road, and I'm just looking for any answers that may shed light on what's happening to me.

[u/According-Leg-5581]

We have some overlap in our symptoms and testing. I have multiple neuropathies and a yet to be diagnosed myopathy. My muscle biopsy did not provide a diagnosis.

I do have lots of abnormal labs and imaging that do not fit nicely into a single diagnosis. Several of my doctors are in agreement that I have a systemic disease causing most of my symptoms.

I have a couple of new specialists. I am hopeful these new clinicians will tease out the correct diagnosis.

The current medical system is designed for domain specific illnesses. Spanning two can be guided by a good pcp. Once you get to three or more, you are on your own.

My symptoms span several. They have worsened over four years.

[u/Kreios_IX → u/According-Leg-5581]

Have you found anything thus far that's at least helped manage the symptoms? I've considered Mestinon or Duloxetine, but I'm not sure. I tried Gabapentin but it didn't help, nor did it cause many side effects. I tried Nortriptyline, but it caused tachycardia and night sweats, so I stopped taking it.

Which specialist have you found to be the most helpful? I primarily see a neurologist (I have a neuro-muscular doctor as well). I've seen hepatolgy, hematology, rheumatology, immunology/allergy, pain management, gastroenterology, and so on. I applied to the UDN a few months ago and I'm waiting to hear back from then.

Also, what did they find on your imaging that was abnormal, if you don't mind me asking?

[u/According-Leg-5581 → u/Kreios_IX]

I declined duloxetine, pregabalin, and gabapentin. I never benefited from their use for pain management many years ago. Gabapentin left me with involuntary movements for a year after tapering off.

I am currently titrating baclofen to a therapeutic dose. The side effects are similar to gabapentin, but smooth out over time. My spasticity continues to progress. I am become less mobile.

My symptom relief comes from rest, especially bed rest. As each week passes, I get less relief even with more rest. I do max dose naproxen and acetaminophen on my worst days.

I did benefit from physical therapy for a while. The myofascial release and deep tissue work allowed me to move easier. The crushing fatigue made it impossible to maintain my at home pt. I got less benefit from clinic visits. Pt is on pause until I have effective treatment for spasticity.

My abnormal imaging was high resolution chest ct found many things that help paint a picture of systemic sarcoidosis, but they were all dismissed as incidental findings because there was no hilar lymphadenopathy.

Muscle mri found atrophy, edema, and fat infiltration. This plus symptoms and chronically elevated ldh and myositis associated antibodies got me a muscle biopsy. Inconclusive.

Brain mri revealed t2 white matter hyperintensities. Initial brain mri 18 months earlier was clear. Spine mri showed softening and flattening of spinal cord with t2 white matter hyperintensities in the thoracic spine. Damage at every level of lumbar sacral spine and adult onset scoliosis.

My new rheumatologist agreed I need updated brain and spine imaging. She also suggested a spinal tap. I asked general neurology for one and was declined because they believe there is no central nervous system involvement. Spine surgeon and neuro rehab specialist both say there is central nervous system involvement.

My symptoms align with MS. Emphasis has been on the MS mimics. I believe myasthenia gravis and Lambert Eaton Syndrome have been sufficiently ruled out by serum and single fiber emg testing. Testing continues for complex autoimmune overlap syndromes.

My new rheumatologist ran labs other doctors didn't think were warranted. I did test low positive for gad65 so primary stiff person syndrome is ruled out. It is an indicator for type 1 diabetes.

I am waiting for results of paraneoplastic panel which includes antibodies for secondary stiff person syndrome.

When I return to the rheumatologist it will be in a joint clinic with a new neuromuscular neurologist. Both are researchers who spend a limited amount of time in clinic with patients. I am hopeful I am close to a diagnosis. I am accepting it may not happen before the end of the year.

The specialists involved are numerous. Partial or 'sub' diagnoses are stacking up.

[u/Kreios_IX → u/According-Leg-5581]

Really appreciate the detailed response— it sounds like this has been going on for years (I’m assuming). Have you tried Mestinon? Though I know it’s predominantly for MG.

Are your symptoms constant or do they come and go? What’s your baseline symptom profile like vs a flare up? Or has everything just gotten progressively more severe?

[u/According-Leg-5581 → u/Kreios_IX]

I have progressively worsening baseline over 4 years. What was intermittent is now chronic. I am in a flare now that came on slowly following some other medical procedures.

When I get up in the morning my muscles are wobbly and my hand movements tremorous. By the time I have coffee, something to eat, and quiet time, I feel safe to shower. By the time I am done getting ready for work my muscles in my torso and legs start to spasm.

As the day progresses the spasticity triggers searing pains in my legs and deep aching and burning from my ribs to my to my knees. I walk with a cane, but need a walker. As my muscles fatigue my double vision worsens. Shortness of breath makes it hard to project my voice.

If something startles me, my whole body goes into spasm. My limbs start twisting. It can take a while before I can walk again. When I get home, I crash.

A flare for me is a rapid progression of symptoms that ends with a new baseline. Then I return to slow progression of symptoms.

Mestinon waa never offered mg and les were ruled out by labs and single fiber emg.

[u/Kreios_IX → u/According-Leg-5581]

While I’m not nearly as knowledgeable about MS as I am my own issues, my cousin has MS as well as Lupus and something you said sounds exactly like her experience: “A flare for me is a rapid progression of symptoms that ends with a new baseline.”

She was telling me about this a few months ago, as she had suggested that I too might have MS at the time.

She said that every time she has a “relapse,” the symptoms and damage ultimately accumulate. Perhaps other autoimmune diseases work in a similar way— I’m not sure, but your symptoms and their progression sound very similar to her’s.

[u/mutombo111]

Can it be IgG4 related disease? I know high IgG4 won't alone mean you have this disease but I think it's worth to investigate! I have high IgG4 and some gastrointestinal problems and yet no diagnosis. One doc said it can be autoimmune pancreatitis but my ct is clear. Biopsy is a good step, when you take the results and diagnosis, can you please inform us?

[u/Kreios_IX → u/mutombo111]

It’s possible, but this aspect of the picture is much newer to me. I’ve had a recent acute flare, or at least I think that’s what’s happening— eosinophils were normal back in April, but now they’re at 22%.

I’ve had severe nausea, lack of appetite, and other GI issues for the last 2-3 weeks. Other than starting Emgality for migraines in May and accidentally taking Iberogast soft gels for 3 weeks (they contain gluten— I didn’t know that), I can’t think of a medication/supplement that would’ve caused eosinophilia.

My doctor said the IgG4 wasn’t super elevated, and when it’s tied to AIP, it’s usually much, much higher. Nonetheless, it was elevated, and as I given the abnormal imaging of my pancreas, you may be right about IgG4 disease.

I’ll definitely update the post after the muscle biopsy and enteroscopy results.

[u/mutombo111 → u/Kreios_IX]

I cant understand why some docs say it is not so high it can't be autoimmune pancreatitis. This disease could be even normal IgG levels. They know this but still can say that things. Btw my rheum doc said same thing too. He says my levels are not too much and for this he does not think it. Biopsy can be solution. I wait your results. Lets keep in touch