Ok on Monday I had my follow-up appointment with the second neurologist.

As I had shown ANNA antibodies in a previous test the neuro ordered an ENA (Extractable Nuclear Antibodies) test which was negative - so no autoimmune issues are present - great! I am very happy about that.

I did a GTT which showed a significant dip (lower reading) at the one hour mark and by the two hour reading the level was basically the same as the baseline fasting level. Unfortunately I don't know what the trend would have been at the three or four hour mark as it was only a two hour GTT. At the bottom of the test result page it said: "A 'flat' curve is occasionally seen due to thyroid, pituitary or adrenal insufficiency, malabsorption or rejection of the glucose dose". As I am on treatment for thyroid and adrenal insufficiency I should not be technically deficient in those areas. So it is a bit confusing!

ACE (angiotensin converting enzyme) test was normal as was the urinary porphyrin and porphobilinogen screen. Likewise the test for Coeliac disease was negative. A very slight change in one parameter on the SPEP - not considered significant.

Autonomic tests were normal.

I guess the most disappointing thing was that the neuro's conclusion is I do not have SFN as the QST's were normal.

As I have said before and to every doctor that I have spoken to about these symptoms, I have told them that I only have an extremely mild amount of burning in my feet but once it hits the ankles and lower legs (& other parts of the body) then the burning/prickling is much stronger. Basically his inference is that it is impossible for that to happen because of the principle of the long nerve fibres affecting the feet first - which I know is true. So it is very confusing.

He did say that a skin punch biopsy could be helpful in this instance - so I don't think he totally disbelieves me. Unfortunately there is no established protocols or labs in Australia yet for doing these punch skin biopsies although he did say that a PhD student has just done a series for her dissertation but is now finished.

So I am now no closer to a diagnosis although quite a few other conditions have been ruled out, which is good. Don't know where to go from here - just live with all the symptoms and see if something else develops I suppose.

Thanks for the support I have received from many of you!

--length dependent neuropathy is the most common presentation: the longer fibers are affected first, so symptoms are distal initially--but that's hardly the ONLY presentation.

The length dependent "die-back" is more likely in neuropathies that have a significant ischemic or circulatory componet. The theory here is that microvascular changes, such as happen in diabetes and in many connective tissue autoimmune diseases, will affect smaller fibers, and the ends of these, first, as larger nerves with large blood supplies can still get nutrients/oxygen into the nerves, and wastes out. Moreover, the longer foodstuffs and oxygen have to travel, and the farther waste products have to be transported to the trunk to be eliminated, the more likely this travel can be disrupted.

But, if your neuropathy does not have a major ischemic component, it means you might not have that kind of presentation. Neuropathic symptoms can occur anywhere in the body, and at whatever intensity they like.

Further, it's possible that the relative lack of symptoms in your feet compared to higher up on the legs COULD actually be a distal neuropathy, but the process has progressed enough n your feet that you have more "negative" symptoms (i.e., numbness) than "positive" (added) symptoms (i.e., pain). It could be a sign the process is spreading upwards.

This is why a skin biopsy is so useful. While it generally will not reveal a cause, if they take samples, say at foot, at upper calf, at thigh, it may be determiniable (based on relative intraepidermal fiber densities) whether this is a distal "die-back" process or not.

I'm curious about the ANNA (not ANA, I assume, and not ANCA) finding from your past--you may know that the presence of the antibodies (otherwise referred to as Anti-Hu and Anti-Ri) are associated with paraneoplastic snydromes. I'm glad the extractable test was negative, but that doesn't mean you have no autoimmune issues--there are numerous autoantibodies that react directly with aspects of nerve:

http://www.neuro.wustl.edu/NEUROMUSC...oantibody.html

--and I'd have doubts they've titred you up for all the GM/GQ/GD series ones. Have you ever had tests for anti-MAG or sulfatide antibodies?

Remember back when we were having a lot of discussion over the punch biopsies? I seem to recall the Johns Hopkins neuro lab said that this biopsy could be done with about 5 minutes of instruction to the doctor or pa or maybe even nurse.

I kind of got the impression that this might be able to be done in other areas, like where she lives, since Hopkins sends the kit to the doc and the specimen is then returned to the Hopkins lab for evaluation... Do you recall?

Cathie

--and I think Bob (Nide44) has talked about this as well; Hopkins does have the program where the punch samples can be taken by almost anyone, and then sent to and analyzed through Hopkins.

Wonder if they would do it from as far away as Australia, though, where Megan is. We all know from Aussie and brian posting how difficult it can be to get medical parcels through customs there, and even though this would be coming from Australia to the US, I don't know how our customs would handle it--and if there is a time/distance factor that might make the sample degrade (even if it is cryogenically preserved).

Hi Glenn,

Thanks for your responses. I am very tired at the moment but in a day or so I would like to go through some of the points you made in your post.

Briefly though, I mentioned in my message in this thread about the fact that Skin Punch Biopsies haven't been instigated here in Australia yet to any degree. I found this prioritising summary today (link below) of a recent analysis on this test and was very disappointed to read the final paragraph suggesting that "further assessment of this technology is no longer warranted". The other Aussies may be interested to read it also.

http://www.health.gov.au/internet/horizon/publishing.nsf/Content/D7C4AF89B5854F3BCA2572AC0083A970/$File/Vol%2018%20-%20skin%20biopsy.pdf

Apologies that the link in my last post didn't come up highlighted but it did work nevertheless by cutting and pasting into the search engine's web address line (I don't know its technical name - !).

Glenn, you said in your post ---I'm curious about the ANNA (not ANA, I assume, and not ANCA) finding from your past--you may know that the presence of the antibodies (otherwise referred to as Anti-Hu and Anti-Ri) are associated with paraneoplastic snydromes. I'm glad the extractable test was negative, but that doesn't mean you have no autoimmune issues--there are numerous autoantibodies that react directly with aspects of nerve

You may not remember but in a post dated September 23, 2007 I mentioned about these Anti Neutrophil Nuclear Antibodies (ANNA's) which showed up and you felt that they may need some further looking at. I raised this query with my neurologist and that is why he ordered the ENA (Extractable Nuclear Antibodies). He didn't seem to want to pursue anything else after getting the result so I don't know where to go next.

--and I'd have doubts they've titred you up for all the GM/GQ/GD series ones. Have you ever had tests for anti-MAG or sulfatide antibodies? No I've not had these done but when I get a chance I will look them up.

Thanks Cathie also for that suggestion. I will look at avenues here first for a possible skin punch biopsy, then maybe consider following up at some stage with the JH option.

Glenn, you've said it well. I've nothing more to add, except the contact info.
Best advice would be to contact the dept and get more info.
The head of the dept is John Griffin, MD:

jgriffi@jhmi.edu
Work: 410-955-2227
Fax: 410-955-0672

biopsies...it's chock full of all those medically technical 'terms', but it is an interesting read:

http://www.medscape.com/viewarticle/563262_1

Hope this is of use for the long term! - j

OOO, that Medscape article looks really good. I gotta print that puppy and really read it, like three times over...

Thanks!!

In case any one else prints out this article....my computer would only print each section, as a separate document...in other words, section 1 prints out as a 3 page document....section 2 as a 3 page document. Oh, and from my experience, you can't highlight and select....every time I do that, I get only the ads. HMM.

Gonna go study this in my 'nerd' mode. That comes in very handy at times. I went for my walk in marshmallowland, which actually looked like marshmallowland..... and did a little stationary biking....very stationary. That was the extent of my 'jock' mode, but it must mean I am feeling better psychologically....my head is not under a pillow...can't say much for feeling better physically...heh wait until tomorrow........

I used to tell every one when I exercised I got a 'body hum' They thought I was nuts.....I thought every one got that feeling. I also thought every one got chills after exercising...like shivering chills...duh. I guess not. I guess you call that neuropathy.

Hopefully my 'nerd' mode is better functioning than my 'jock' mode. Interestingly when I was doing professional work in the athletic field....most of my really athletic clients, 'jocks' were really smart people, doctors, engineers...grad students....I had very few of the sterotypical 'dumb jocks'.

Stererotyping is never a good thing. It is good to keep an open mind.

I gotta find out what glaborous skin is as that term is new to me and boy, does it sound unflattering....Glaborous...ewww. I got a hunch where that glaborous tissue resides....Lest I get too blaborous....

Well, again thanks for this post regarding skin testing....dont want to get off topic.

Oh Glenntaj.....right on regarding that foot thing....I had no idea my neuropathy was a problem in my feet...I simply didn't feel much there, no burning, etc...aching, but who doesn't have aching feet....I went in for dysautonomia....I also wonder why they have not brought up doing the skin testing on the body core (glaborous) tissue....I assume that they assume by the time you show so few fibers distally and have autonomic problems, and global anhidrosis...you are 'fully cooked' so to speak. Thanks for your insight.