[pg600rr]

Background:

I was a very healthy 29 y/o, best shape of my life, gym every other day, running every morning, zero health problems and no meds. Started having 'off' days last August, maybe every other week were I would have GI upset. Then had a few prolonged periods in Sept.-Jan. of 3-5 periods when I'd feel pretty bad.

Mid-Feb. everything went downhill fast. First presented w/ extreme GI upset, 24/7 nausea, no appeptite, bloating, gas, fatigue, malaise, etc. Was in/out of ER, given fluids and sent home each time due to CBC being OK. Scope was eventually done, they found mild esophagitis and 3 distal ulcers in esophagus. Thought that was why I was feeling so bad (didnt really make sense tho) and month later recheck showed it had healed itself. Through March continued to feel worse, symptoms included:

Symptoms (past & present):
-GI symptoms (nausea 24/7, gas, bloating, distention)
-mid back pain (dull)
-very fatigued 24/7
-chest tightness
-orthostatic tachycardia [diagnosed with POTS by Dr. Freeman @ Beth Israel]
-lost 18 lbs. 2/25-3/15
-unable to gain much weight back
-not sleeping (getting up sometimes 3x night to urinate 4/6/8am)
-constant varying levels of dizzyness/lightheadedness (usually worse when I stand up from sitting), will get numbness on forehead sometimes, feel like passing out sometimes
-feel very cold alot, especially hands and feet
-whole body feels very sick
-sporadic dull headaches (usually just above/behind eyes but varies)
-muscles in legs, arms upper back feel tight/achey from minute I wake (horrible feeling) worse in the a.m., will have for a week or two then not for a few weeks...
-left side gland under tongue (almost feels swollen on the inside, like something is in there) can pinpoint exactly where this feeling occurs
-usually have feeling of adrenline rush through body upon waking in the a.m.
-neuro noticed left hand temors upon evaul
-very sporadic, non-itchy rash, just blothcy, usually in center of stomach/chest area, sometimes on neck or ribs (havent noticed in atleast 4 weeks) [see pics]
-eye doc has been following left eyelid droop (may be caused from Lasik surgery I had done in 2010)
-sporadic cheek muscle twitch left side
-sporadic eyelid twitch left side
-restricted breathing through nose (often have to sleep breathing only through mouth)
-sometimes get sensation of clogged/forced swallowing @ top of throat, feels farther back in head, around point where sinus cavities emptying into top of mouth/throat (almost like traying to swallow with your nose plugged)

From 2/25 till now I have been to all major Boston-area hospitals, seen 16 specialists trying to figure out whats going on. So far they have not found much except for "mild" POTS, borderline lyme WB's, some atypical lymphocyctes (8%), and most recently, the big finding, NLD-SFN, biopsy was normal at right calf, abnormal at thigh. Currently, many of the symptoms above have changed or lessened. The major ones continue to be the GI and the feeling in my legs (sometimes shoulders/arms to a lesser degree).

Testing I've Had:
90+ pages of blood work
EMG
EKG (multiple)
Echo (multiple)
Holter (multiple)
UGI w/ small bowel
Upper Endoscopy
GES (normal, although doc said it could have been a good day)
Breath Test: SIBO, lactose, fructose
Allergy Blood testing and select skin testing
CT: Abdominal/Pelvis/Chest/Sinus
MRI: Full Spine and Brain
Autonomic Testing x2 (cardiovagal, adrenergic, and auxiliary all normal, sudomotor showed sweat output was normal but QSART showed length dependent pattern w/ a decrease of sweat output distally atleast 33%)
Skin punch biopsy (showed NLD-SFN, nerve density reduced 52% @ thigh, normal at calf)

Questions:
I have yet to really get into see a specialist in SFN or the NLD kind. The nuero that diagnosed mine said that it was "mild" and some with this level of damage might not even experience symptoms, so I dont understand why I feel like I am dying most of the time! So I do have a few questions, any comments, suggestions, thoughts, answers all welcome :-)

1. do the sensations I am describing sound SFN related? I have NO burning, stinging, tingling, numbness, etc. it is like a jello-y, tight feeling, very unpleasent, comes and goes, mainly in glutes, thighs, and calfs (weird because biopsy showed no damage in calfs...) why would it be in the calfs if no damage there?

2. If the sensations are being caused by the SFN shouldnt they be somewhat consistent and not cycle?

4. read about dorsal root ganglia damage sometimes being related to NLD-SFN..how would this present? my neuro said it is not relevant to me, because my EMG was normal, I have no coordination or muscle weakness problems, and no difficulties with sensing heat/cold/vibration...

5. anything specific I should I have my PCP doc testing for to find an underlying cause given the acute onset, the progression, results of above tests, my age/health, symptoms, etc.?

Thank you so much!

[ginnie]

Welcome to Neuro Talk. Gosh that list of symptoms isn't so good. So sorry you are having all those troubles. Even before I read the word Lyme, in your post, that is what came to my mind. I would highly suggest you seek out Mayo clinic. Of all the places in this country they seem to get to the bottom of someones problems. I went there at your age, to the one in Mn. Days of testing later, they did find out I have immune problems. I think that is the best diagnostic place in the country when all else is turning up a blank. I had gone to just as many doctors before I went there. I do wish you all the best. Have heart. I would not stop until I found what was wrong with me. I hope you are able to get the answers you need to. I will keep you in my thoughts and prayers. I hope alot of other people respond to you. ginnie

[pg600rr]

Originally Posted by ginnie

Welcome to Neuro Talk. Gosh that list of symptoms isn't so good. So sorry you are having all those troubles. Even before I read the word Lyme, in your post, that is what came to my mind. I would highly suggest you seek out Mayo clinic. Of all the places in this country they seem to get to the bottom of someones problems. I went there at your age, to the one in Mn. Days of testing later, they did find out I have immune problems. I think that is the best diagnostic place in the country when all else is turning up a blank. I had gone to just as many doctors before I went there. I do wish you all the best. Have heart. I would not stop until I found what was wrong with me. I hope you are able to get the answers you need to. I will keep you in my thoughts and prayers. I hope alot of other people respond to you. ginnie

Hi, thanks for the kind words, its been very tough going from a healthy active 29 y/o just starting my career, to being debilitated pretty much over night...

Regarding the lyme, I have seen some LLMD's (they all think I have it) and my PCP (who is an ID doc) he is on the fence but still treating me with their LLMD protocol... I am skeptical wether I have it because I dont have a lot of the telltale signs. Though I started the tetracycline about 8 days ago and all my current symptoms (mainly the GI issues, fatigue, POTS, and sensations in my legs) seem to have gotten exceedinly worse, so much so that I didnt take my pills today, but it hasnt made a difference.

[pabb]

Originally Posted by pg600rr

Hi, thanks for the kind words, its been very tough going from a healthy active 29 y/o just starting my career, to being debilitated pretty much over night...

Regarding the lyme, I have seen some LLMD's (they all think I have it) and my PCP (who is an ID doc) he is on the fence but still treating me with their LLMD protocol... I am skeptical wether I have it because I dont have a lot of the telltale signs. Though I started the tetracycline about 8 days ago and all my current symptoms (mainly the GI issues, fatigue, POTS, and sensations in my legs) seem to have gotten exceedinly worse, so much so that I didnt take my pills today, but it hasnt made a difference.

In that mass of blood work, were you tested for ceiac disease? and did your doc warn you about die off with the Lyme treatment?

[pg600rr]

Originally Posted by pabb

In that mass of blood work, were you tested for ceiac disease? and did your doc warn you about die off with the Lyme treatment?

Hello, I was tested for celiac several times and had a biopsy checking for it in my stomach/small bowel via upper endoscopy...all have been negative so far. My GI doc just had me do the Celiac genetic testing which we are waiting on results from...as I understand 90%+ of celiac patients will test postive for one or both of the genetic markers?

They were really banking on celiac because of my symptoms, onset, progression and my general health/age prior to this happening..

As far as lyme die off, I was warned of it, however this didnt feel like die off to me... I dropped the tetra and just started a high dose course of doxy, high enough to kill I hope and not just be bacteriostatic (sp?)

My WB lyme tests first showed IGG 41 in Feb., then IGG 23, 30, 39, 41 in March and April, and from April til now I have had 3 more showing both IGM 23 and IGG 23 (which as I understand it is specific only to lyme?) all from different labs, labcorp, mayo, quest, etc. etc. not CDC positive by any means but it has the docs curious..

[LindaD88]

have they checked toxicity to anything at all? vit b6, lead, etc.....

[pg600rr]

Originally Posted by LindaD88

have they checked toxicity to anything at all? vit b6, lead, etc.....

They have to a few things, my b12 comes back fairly normal 400-500+ range, b6 thought was ok but cant seem to find the test anywhere so maybe it wasnt looked at yet? I'd be shocked though. I do have an order for it that I need to get drawn.

Heavy Metals, they only looked at Arsenic (was just out of range @ 13.8 ug/L), mercury andlead were both fine.

Folate tends to come in low normal, 17 in 6-99 range, as does D, 24 in 20-80 range..

A few questions I did have, not sure if anyone will know, but:

1. how "bad" is a 52% reduction @ the thigh? sounds bad to me but neuro said it was very mild and some w/ this damage might not even experience anything...

2. why did the qsart show length dependent pattern w/ a decrease of sweat output distally at least 33% and the skin biopsy show NLD-SFn w/ calf normal, thigh 52% reduction? dont those findings contradict eachother?

3. I read that Dorsal root ganglia damage is sometimes the underlying cause in the NLD type of SFN, how would this damage present? could you have it w/o evidence of motor damage?

All of my motor functions are perfect, EMG was normal, no feeling of strength loss, smell/taste/pupils all intact, all sensation to tuch, pin, position, and vibratory intact, all reflexes normal (although a bit more reactive at knees and ankles)...

Neuro said with the above findings/presentation dorsal root ganglia damage is extremely doubtful?

4. if the damage was only found in my thighs, then why do I get this sensation just as bad in my calfs as well? its not a burning or stingling or numbness, its like a tight feeling but very uncomfortable, hard to explain...a few neuro's even said that they didnt think it was a SFN sensation as they had never heard of it described like that before...beginning to wonder if its actually from the POTS? sinceits by far worse in the a.m. upon waking and cycles (usually worse first week or two of the month then better)...

[glenntaj]

--may be going on here; none of us are exempted from being co-morbid.

First, those vitamin levels bear closer scrutiny. The 400-500 level of B12 is really only a low normal, if that; many of the new ranges used in Europe and Japan start at the 500-550 level. Given this, and the low normal D and folate levels, a search for malabsorption syndromes is in order, particularly celiac. I know you've had an investigation for this, but sometimes the damage is patchy and incomplete, especially early in the process, and a diagnosis often depends on the number of biopsies taken for sample--there was recently an article on how part of the underdiagnosis of celiac may relate to insufficient numbers of samples taken, as well as a low rate of samples during upper endoscopy:

http://www.huffingtonpost.com/2012/0...n_1643914.html

Also see this section from the Gluten File:

https://sites.google.com/site/jccglu...testsandbiopsy

And, your neuropathy pattern is not uncommon in the case of gluten sensitivity/celiac--the condition is know for producing non length dependent neuropathies and at times for an autoimmune attack on the dorsal root ganglia, which, generally, results in sensory symptoms rather than motor:

https://sites.google.com/site/jccglu...ationsofgluten


Of course, there can be NON-celiac/NON-gluten autoimmune attacks on the dorsal root ganglia that may lead to similar sensory/autonomic symptoms. Sjogren's syndrome is one culprit, and there are others (in some cases, the cause is never found):

http://neuromuscular.wustl.edu/antibody/sneuron.html

AND--it's entirely possible this may have, ultimately, an infectious cause. Lyme infection can present this way, as can other infectious causes (particularly insect borne, such as West Nile):

http://neuromuscular.wustl.edu/nother/infect.htm#cmv

I admit, this can be a very difficult puzzle to pull together.

[pg600rr]

^Thanks Glenntaj, def. stuff I will look into..

Gluten blood and skin allergy testing has come back negative several times, just had the celiac genetic testing done through Promethues and I have zero genetic markers, which they claim makes it 95-100% impossible for me to ever get celiac?

On a side note, my neuro just tested my B6 and it came back pretty elevated... ref range was 20-125 nmol/L, mine came back @ 182.4 nmol/L.

Is this relevant? I do not take any supplements whatsoever, never have in my life, no multi, shakes, anything... so it wouldnt be elevated from that.

[glenntaj]

--to find out why the B6 levels were so high (especially if you are not supplementing).

B6 "intoxication" can cause neuropathy symptoms in some cases. Mrs. D has accumulated a lot of abstracts on our supplement "sticky" that seems to point to this often having to do with a genetic mutation that makes some people unable to methylate pyridoxine (the "raw" from of B6), which causes an accumulation of unused B6 in the body over time and may lead to symptoms, though this generally happens only to those who take a lot of extra B6. Curiously, this does not seem to happen to those who take the already methylated P-5-P form of the vitamin.

See:

http://neuromuscular.wustl.edu/nothe...yridoxineintox

http://neurotalk.psychcentral.com/thread121683.html