Still looking for a cause
 

On my trip to JH last November to try and find the cause of my SFN, the doctor did the following tests which were all negative:
Lyme titer, TTG, SSa, SSb, endomysial antibody, SPEP, lg quants, TSH (0.57) and SIFE. An EMG was also done along with a skin biopsy, which confirmed the SFN.
A few years ago I also had some blood work done which showed that my calcium, magnesium, electrolyte panel, immunofixation, folate and B12 were all normal. The anti-glycolipid panel including SGPG, MAG and sulfatide were negative on that same date.
My question is are there any more critical tests/blood work, etc. that I have missed? Or should I just take the Liza Jane Chart to my doctor and tell him I want checked for everything on the list? And does it take a neurologist to understand all of the results?
Any advice sure would be appreciated.

Regards, Tom

I don't know if I've even had all the tests you mentioned, but I have SFSN diagnosed by skin punch biopsy.

Just received the very last of the bloodwork tests after having many on this hunt for a cause over the months, and they were all normal. Including intrinsic AB block (determine if B12 is being absorbed). Plus had these during the past months:

1. Acetylcarnitine/carnitine

2. COQ10 total
COQ10 Reduc
COQ10 Oxid
COQ10 % Reduced
COQ10: Chol

3. ESR by Westergren

4. Serum B12

5. Vitamin B6

6. Vitamin D

7. Vitamin D3

8. Vitamin B1

9. Catecholamines:
Epinephrine (by plasma)
Norepinephrine (by plasma)
Dopamine (by plasma)

10. Folate, TSH, T4 free/free thyrox

11. Monoclonal Prot. Bld.

12. Complete Metabolic

13. ANA Panel Blood Screen

14. C-reactive protein

15. ACE/Angiotensin Bld.

16. Anti-ENA ID

17. HU AUTOANTIBODY Bld.

18. SYPHILIS IGG WITH CONF. (sqsyphgx)

19. Cryoglobulin Bl.

20. LYME

21. Rheumatoid Factor BL.

22. Anti-Neutro Cyto AB

23. Vitamin E/Tocopherol

24. Anti GM1 Triad

25. HIV RNA viral load (not suspicious for this - just did it because it can cause neuropathy)

26. LUMBAR PUNCTURE

27. CT Chest w/contrast - normal

28. Neoplastic panel to Mayo Clinic to rule out malignancy anywhere.

Everything normal except for slight hypothyroidism and the SFSN by biopsy.

Today, I reached the probable end of the diagnostics trail. Will have to adjust to this, knowing no cause was found.

Hope a cause is found for you!

Best wishes,

Sheltiemom

P. S. I'll be sticking with the neurologist for the scheduled appointment of 9/21 because I have a few more questions that I never asked. After that, probably not going back unless there's an urgent neuro event of some kind someday.

I'll be posting a question for those members who are big on taking dietary supplements. By doc just told me to go ahead and with them - it can't hurt providing the doses are in the safe range, so watch for the post and then for the answers to it.

It is kind of like the search for the Holy Grail.....

I think that of all causes, maybe next to diabetes, "idiopathic" must be the most common....I wonder if most of us will ever really know.

There are likely hundreds of hereditary neuropathies yet discovered.
Likely as many toxic causes as there are chemicals out there, including meds and vaccines;
Likely many traumatic and 'iatrogrenic' causes of neuropathy, such as spinal procedures, and those oh so innocuous spinal anesthesias and other things they squirt into out spinal canals;
Likely many post infectious causes, such as the Lyme that doesn't exist or is cured with 2 doxy's.

Many, many reasons will never even be pursued, since too many physicians and drug companies, medical device companies would be 'pursued'.

Eh, it is what it is. We all so hope we can find the cause, since we hope that cause is treatable and would stop our neuropathy, but, I fear that is the minority of cases.

OK Tom? Finding the 'cause' isn't as important as TREATMENT?
 

I'm still 'ideopathic' after 7+ years, but, it doesn't matter? Getting the TESTS and treatments does? Now, that doesn't mean going and 'demanding Liza Jane's tests' all be done on you? Rather, use that and your research and KNOWING WHAT tests HAVE or NOT been done to give you reason to ASK?
Why hasn't X test been done, IF you think 'this'? or Y test done if 'that'? That way? It's not a confrontation? But rather an explanation for HIS rationale vis-a-vis testing.
It is difficult to play dumb and smart at the same time? But the consistent ASKING and wanting copies of tests results 'for your files'? Can be your keys to open the doors to 'communication'. The 'C' word can become precious in establishing trust with your doc, and, at first? reducing your expectations?, then letting that professional know you aren't a total 'Trust Me' type of person. It's hard enuf to find any simple person you can comunicate with on the basest levels? You need to be straightforwardly candid with a new doc after the initials? As to Can I work with You? You with me? Honesty? Finding docs especially for US is hard! We need someone who has a CLUE! IF they have clues, but are insensitive? Write them off!
The best words I'd ever heard were: "Let's see what we can do about this". That was my clincher? I hope you find a doc curious yet experienced enough to say this to you and FOR you! The right treatments for you are out there? You just need the right doc to do the trial and error phase with you! KEEP FAITH! DON'T GIVE UP! :hug::hug::hug:'s - j

What about a nerve biopsy? I have heard that this is very painful and can actually make matters worse. If any have tried it, has anything meaningful come from it and how was your recovery. Thanks.

I don't think they are doing nerve biopsies for anyone any more....due to the damage, as Kitt said.

I wonder if they did MORE testing on hereditary neuropathy, if they would not find a whole heck of a lot more of it.

what was the NUMBER on the B12?

A number of places still do the nerve biopsy--
 

--and some facilities do them far too often when they're not indicated (insurance reimbursement, I'm sure, plays a part here--get that money--as many more plans will cover the more extensive surgery of a nerve biopsy than a skin biopsy at this time).

Nerve biopsies are supposed to be done along with muscle biopsy and only if certain conditions, such as inflammatory vasculitic autoimmunities or specific hereditary neuropathies with characteristic degeneration patterns, are suspected. They can sometimes confirm such suspicions, but often don't reveal causes that are toxic or metabolic.

See:

http://neuromuscular.wustl.edu/nother/bx.html

Wow! You ARE smart. Thanks very much for sharing that treasure trove of knowledge. People like you and some others who post/reply here are invaluable to the rest of us.

Sheltiemom

PLEASE! Do not consider a sural nerve biopsy,other than...
 

a very last resort? Many insurance companies these days don't cover their costs anymore due to the probabilities of infection, plus the total loss of nerve function in that nerve 'line'.
I'd discovered this over 5 years ago, upon seeing a 'new' neuro who was gung ho to do that sural biopsy.... I'd read lots, and It'd seemed I'd passed all the criteria for the treatments I was getting. Thing is? This neuro simply seemed too EAGER? Almost as if he wanted to 'get one' done before they couldn't 'be done' easily any more. This neuro referred me to his 'mentor', head of a local teaching hospital's neuro dept. And he questioned my treatments as well as my diagnosis. So I referred him to sources for diagnosis, stating that: Blood work, spinal tests, nerve conduction studies, history, MRI's, Ct's, and a few other aspects for diagnosis ...aside from a biopsy of any sort indicated my type of neuropathy... He wrote that 'new neuro' and sent me a copy of his conclusions. He'd agreed with me, having done his homework as well. BTW? I'm back to the neuro BEFORE this new guy! Wonder why?
While this is an old article? It's charts are pretty clear [and in line w/Liza Jane's lists] in terms of 'If This? Then Test THAT'. Ergo? IF it walks and quacks like a duck? It could be a goose, maybe? In part? You are going to have to be your own detective in narrowing down what you think you mite have... And then hope you and your doc can go in the same directions!
Then, don't forget? Docs change their minds daily about some things, and who knows why they do so? Sounds as if you've got a few other tests to go before getting to where you need to be for treatment! With out the most key of tests AT the times things 'started', and then progressed. There is No way you can truly find out CAUSE. Settle for good treatment that helps you get on with life! Hugs and hope! :hug::hug::hug:'s!!!!!! - j

Idopathic
 

Tom,

I've been struggling with neuropathy for 2 years now and they don't have a clue to what is causing. I went to Johns Hopkins in Jan of this year and they did MRIs, EMGs, more blood work than is reasonable, 13 vials of blood - I asked the nurse drawing the blood if she was going to leave me with any, & a skin biopsy. All normal. I was told all that can be done is to treat symptoms. I've been on 4 different meds and they work for a while and then it gets worse. I'm going to the JH pain treatment center the end of Sept to see what they can do. I share my experience just to let you know that I understand and share your frustration. :)

Been there, done that! When I went to Mayo Clinic, they took 19 viles of blood. Jeepers! :)

My latest B12 ckeck was on 3.18.10 and it was 1038. However, let me go back in time a little.

In October of 09, I made my initial trip to Hopkins in an attempt to find a cause and actually to confirm that I really had SFN. Using a scale of 1 to 10, with 10 being the most painful, the bottom of my feet were probably at a 4 at that time. They confirmed the SFN and their blood tests showed my B6 at 117, which is quite high. How did my B6 go from 47 to 117 in a matter of 5 months when I didn't change my daily routine? Anyway, they suggested I stop taking my B6 supplement (Coenzymated B6, P-5-P, 25 mg/day).

Came back to Atlanta, stopped the supplement, and tested the B6 on 1.6.10 and it was 23.1 and my B12 was 1223 (note the drop on B12). I also had lumbar decompression surgery on 11.30.09. The stenosis was severe and the neurosurgeon thought that the nerves may have been compressed.

I tested again on 3.18.10 and the B6 was 28.9 and the B12 was 1038 (again, note the B12 drop). At this point, my feet are still at a 4.

On 5.3.10 I had my yearly physical. My B6 was 67.6 (again, why the increase in B6?) My B12 was not checked. Feet still at a 4.

Remembered that I was still taking a Multi-vit that had B6 and B12 in it. I stopped them completely and retested the B6 on 6.25.10, it was 11. Feet still at a 4.

So here I am now in Aug and the bottoms of feet are about a 9. I am presently, and always have been for years, taking 2 mg of Methylcobalamin sublingual daily. Since I was taking 2 multi-vits daily(which have about 8mg of B6 as pyridoxine hydrochloride each and about 33mg of B12 as cyanocobalamin each), I started taking one of the multi-vits daily thinking that it might raise my B12 somewhat and also the B6 a little? Since I haven't had the B12 tested since March, I probably should have it tested along with the B6?

I didn't mean to ramble on but just wanted to give you the whole story. I just don't understand why the sudden huge increase in pain level? This is the first time in 14 years that the pain level has increased so dramatically. Could the nerves be healing from the decompression surgery? Thanks for listening and any thoughts and advice are welcomed.

Regards, Tom

It seems to me that a lot of people with SFN had spinal issues first.

If you don't mind sharing, which doctor did you see at Hopkins? I saw Cornblath in Oct. of 09.

I saw Scott Newsome

Tom,

My SFN started with a West Nile Virus infection. It messed up my immune system so much that I got several other viral infections over the next few years that my body is having trouble fighting including Epstein-Barr, Cytomegalovirus (strong association with neuropathy) and Parvo Virus.

I'm hoping my neurologist and immunologist will work together to get me on IVIG treatments because I know mine is primarily viral induced.

Jan