Doc says no SFN, i don't believe him
 

Thank you for accepting me into this group.

I’m looking for some guidance from those that have been here before. I guess my main question is, should I trust my supposedly expert Doctor and be resigned to my DX or do I trust my gut and demand further testing?

Here is my story
About 2 years ago, I got very sick on a business trip overseas. I recovered just fine. However, 1 week after my illness my ankles started burning. Eventually, I started twitching like crazy with it. Eventually, after bouncing from primary doctor to a rheumatologist, I made it to a Neurologist. She did a full exam and said everything looked good. We did a EMG and NCS which came back clean. She explained my burning was likely small fiber neuropathy, but that she wasn’t ready to dx me because she had no expertise in this field. She was young and inexperienced (guessing early 30's). I also got a MRI done which came back clean as well. So I researched and found the local expert in SFN. He specializes in PN and SFN, he also has a few papers he did on IVIG treatment for SFN. I got an appointment after 6 months of waiting.
He examined me and we did another round of EMG and NCS. He Dx’d me Cramp Fasciculation Syndrome. I asked repeatedly about SFN. He said he was 95% confident I did not have this because my vibration test was perfect and I had no loss of sensation. But what about this burning pain? He said it was just nerve irritation and quite common for CFS and BFS. Honestly, my pain is 1 on a scale from 10. I have read many with SFN that can’t sleep with sheets on their feet. I do not have this problem. It’s really just annoying pain.
However, 3 weeks ago, the top of my toe went numb. Like a dead nerve… I can’t feel anything on a very thin line on the top of this toe. I don't recall hurting myself in a way that could cause nerve damage... This has me worrying again about SFN. Everything tells me I should just get a skin biopsy and find out for sure. He insisted this was not necessary and that I should relax and enjoy life.

Here are a list of my symptoms

Both legs experience symptoms.
• Burning pain:
o Pain is mostly related to ankle area. Directly at the crease between shin and foot, where folds of skin occur.
o Secondary burning pain is located up to the mid shin.
o Burning pain to a lesser degree between mid-shin and ankle, and top of foot.
o Symptoms increase substantially while in seated position.
o The bottom of my feet and toes are not in any pain at all.

• Muscle Twitches:
o I twitch easily over 50,000 times a day.
o The vast majority of twitch is located in the calf area of both legs. Twitches are mostly unseen, but a minority can be seen. Twitching never complete goes away, but does differ in intensity from day to day.
o Less common areas include, quads, glutes, abdominals, biceps, forearm, neck, eyelid, and lats (back)
o Symptoms increase substantially while in seated position.
o Symptoms explode after strenuous exercise.

• Buzzing
o My feet and calves have a buzzing sensation that is nearly constant.
o Occasionally get buzzing in other parts of the body but rare
o Could this be high frequency twitching?

• Dizziness/light headed: (this symptom has been gone/very rare for about 1 year)
o Constant light headed feeling, but varies in intensity day to day.
o Worse when moving eyes from object to object. Worse when bending at the waist. Worse when I tilt head back. Worse when open and close eyes.

• Internal Tremor: (this symptom has reduced substantially for over 1 year)
o Internal low amplitude pulsing/shaking tremor can be felt for hours at a time. This signal is amplified when leaning against something… more so with arm held in higher position. This pulsing cannot be seen.

• Joint Tremors (This symptom is progressively getting worse)
o Thumb tremor when typing.


• Numbness
o Numbness first reported 7/12/17. Located on dorsal/medial side of large toe.

• Reduction in all symptoms reduce while active/moving.

Hi dtaijo174

Welcome to NeuroTalk :).

The PN forum is very active so I am sure that its regular members will be able to offer you helpful suggestions (I don't know enough about PN to say anything particularly useful).

All the best.

Hi and welcome.
I had never heard of Cramp Fasciculation Syndrome so I looked it up. I was surprised to see that it can also include the same symptoms as SFN. Perhaps that is why your doctor said you didn't have SFN. If you really want to find out a punch biopsy is the only test we have that can confirm SFN.

I hope this helps.
Caroly

Hello and Welcome to NT
 

those symptoms all fit in with sfn. Unfortunately calling it that, won't change treatment or find the cause. The biopsies heal well and leave small circular scars, so that isn't a big deal, but all they will do is prescribe neuronitin, lyrical, or tricyclic antidepressants or other anti seizure drugs to try to reduce the nerve symptoms, which is probably where your options are now with the diagnosis you have now. Have you already been to a rheumatologist to get worked up for autoimmune disease?

Welcome to Neurotalk. Sorry you find yourself here.

Likewise, I'd never heard of Cramp Fasciculation Syndrome, but it piqued my interest because I do have a bad problem with cramping in my feet and lower legs. Benign Fasciculation Syndrome is something I'd read about years ago, I thought that was what was affecting my left leg (since the 80s). Then things got ugly in 2013. :eek:

I can relate to a lot of your symptoms...

Burning in the legs and feet - Yes!

Buzzing - always in my feet and lower legs, sometimes upper body when flaring. I have a "full body" buzz when I wake up in the morning, but it mostly subsides once I get moving.

Ridiculous unseen twitching in my legs - I think magnesium supplements have helped this. They seemed to wane once I started taking them.

Localized altered sensation on three toes

I have other symptoms too, but those are the "highlights."

Is the numbness in your toe you report really numbness or just altered sensation? I can feel a pin prick on my toes, so they're not numb, but what I feel constantly is a sensation of something like my socks being bunched up, or maybe my toes being wrapped in something. When I flare, I get that wrapping sensation all the way up my lower legs.

I'm going back to a neuro for the first time in three years in a couple of weeks just to get feedback from another one. I've not had the punch biopsy done because three years ago my other neuro said "I know you have SFN, and the punch biopsy won't tell us why." At that point I'd had a gazillion tests done, and didn't argue.

Hi dtaijo174:

I also have many of the same symptoms. Three years ago, mine came on pretty quickly starting with twitching and cramping - then progressing to pain in the feet, etc. After a 6 month acute phase where things got progressively worse, they stopped progressing and have improved to some extent.

One of the things I've posted on before is the fact that many people with BFS/CFS also present with small fiber loss when tested. Same thing with fibromyalgia patients.

Its unclear exactly how or why all these conditions seem to be linked together, and unfortunately none of them really have very good treatments.

Beyond whatever treatments your doctors recommend, I always recommend:

-Improve your diet
-Take supplements that have shown some ability to help with neropathic issues (see the separate forum on supplements for PN)
-Exercise regularly, to the extent you can tolerate.
-Relax. (Stress can be a big factor in these diseases, so use whatever relaxation techniques will work for you - meditation, controlled breathing, white noise, etc.)

I hope you can find some relief soon.

Cramp Fasciculation Syndrome and Benign Fasciculation Syndrome (BFS) are basically the same thing. They mainly consist of people with lots of twitching, tremors and paresthesia.
I agree with all of you, what’s the difference between BFS/CFS and SFN? It seems to me they are both related to each other in some way.

I’ve decided I will get a skin punch. I want peace of mind and the constant worry gets to me. I have 2 young kids, and I’m the breadwinner… I need to be prepared for the worst. However, I really do not want to get a new doctor since mine is one of the best for SFN. If I have it, I want him to treat me.

As for meds, I was prescribed gabapentin from the first neurologist. It just made me dizzy and tired, so I stopped taking it.

During my appointment with a rheumatologist, I had my blood drawn and tested for a number of things. If it is helpful, I could dig up my results. The only thing worth mentioning was my vitamin D was low (it was winter and I live in the north).

My numbness is real. I severed a nerve in my thumb years ago and my toe feels exactly like that. I can tap a spot on my toe and it zaps pain up the toe where it is numb. Otherwise it is dead to the world on very thin line.

I’ll also check out the supplements on the stickies. From what I have read from older posts, some feel take these has changed their lives. Might as well give it a shot.

Lastly, if I do test positive for SFN, what do you all recommend for next steps? I’m 36 and not diabetic. Surely it is autoimmune. I’ve read about IVIG. Should I be pushing for this?

PN can be associated with some auto-immune diseases.

Examples of these include rheumatoid arthritis, SLE, Sjögren’s syndrome, Guillain- Barré syndrome and Chronic Inflammatory Demyelinating Polyneuropathy.

Usually they have clinical signs apart from PN.

Getting a referral to a rheumatologist or clinical immunologist could help in this context.

Good comments all around :)
 

Hi dtaijo174,

A belated welcome to neurotalk - I've been absent from the forum for a while having had other issues to deal with - so just catching up a little here.

To add to the suggestions others have made and going back to your original post - you mentioned that you had been very ill for about a week while on a business trip overseas.

Did you ever get a specific diagnosis of the illness cause? eg, gastroentological, viral, bacterial, parasite etc.

Did you take any antibiotics (or medications other than those you've listed) at the time of the illness or since then? If you can provide the name(s) there may be information available here on neuropathy side effects or others may share their experiences.

Either of these could have singly or jointly contributed to causing peripheral neuropathy. Finding a possible cause can assist deciding treatment options.

Ragtop's suggestions are all great steps you can take yourself without requiring a doctor's input, and will help manage the condition no matter what the cause.

Feel free to ask more specific questions if you want.

Quick update:
Doctor is making me come in again for another appointment. I'm trying to get them to skip the appointment and order the biopsy... So far no luck. My appointment isn't until the end of December

Update:
Finally after months waiting for an appointment i received my results for the skin biopsy and it is positive. Thank you all for insisting I get this done.

I am scheduling another appointment to get some more blood work done. Can anyone point me toward a list of things to test for? I'd like to cover as much as possible.

Thanks again.

How are things progressing?

Hi dtaijo

It'll be interesting to follow your progress.

I mirror your symptoms a bit. All over body twitching was my main symptom in May 2016. This was followed by feet tingling in June 2016 with the occasional all over body prickling now and again.

Twitching would stop if the muscle was activated (maybe start again once relax, or maybe move on to another area of the body).

Tingling very mild.

Not other symptoms or limitations. Self Dx with BFS

About 2 months aga start to worry again about SFN (surely the tingling should have stopped by now). Since then, i've noticed an increase of symptoms, obliviously! :rolleyes:

I have randomly found (wasn't look for) and small numb patch on the side of one of my big toes. It cant feel pin prick or temp. Interestingly, like, you also, if i run over the knuckle of the toe, i can "ping" the nerve, and it shots down into the numb patch!

Currently still more than able to live my life normally though

Update

Good news on blood work. I finally got a positive hit. I tested positive for Cryoglobulin with “Trace elements”. My doctored explained that trace meant a low concentration was found (a good thing). He also wasn’t sure which type, but it is most likely Autoimmune related. I’m going back for more blood work in mid-September. I asked about sjogren’s and he said it was possible but unlikely. I have already tested negative for it, do not have the classic dry mouth/eyes symptoms, and I’m a man which makes up only 4% of patients. Prior to that everything has been negative so I’m happy we finally found something. Nervous at the same time, because I know autoimmune is pretty much untreatable.

The bad news is I’m still progressing. My burning pain has now moved to the bottom of both feet. It moves around all the time, but every day I have pain there. I can still do everything, but it is rather annoying. Moving around makes it considerably better. I just got back from a 1 week vacation where I was on my feet for 12hrs each day. No problems but the pain was always lingering.
My dizziness seems to come and go, but I’ve had a bad spell for the last two weeks. I hope it passes soon.
Hands remain unaffected, but I still get tremors in my thumbs. That has been continually improving since my first 6 months of symptoms.
The numbness in my toe has greatly improved, and even completely recovered at one point. It has started to come back this month, but it is still nowhere near what it was 1 year ago. To me this means I am recovering in between flares.

At this point, the worst part of the disease is always being reminded it’s there… slowly taking away my life. Will it be 2 years, 5 years or 30 years before I can’t walk…? It makes it hard to enjoy things when you are always being reminded of the pain and future. Should my wife and I have another child? Buy that big dream house? Or should we play it safe because I may not be able to work… I hate not knowing… One thing I made sure to do, is make my disability and life insurance a substantial amount. I will not be a burden to my family. I just refuse to allow it.

Hi dtaijo174

I wanted to check in with you and see how you were getting on? I could have written your posts myself, both the description of symptoms as well as the sentiments about how the uncertainty over things progressing places your life on hold and causes anxiety. I'm a similar age and in a similar position in terms of building and supporting a family and so on.

Anyway hopefully this finds you in a better way now?

Cheers
Mick