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?