29 y/o, very sick for 8 months, just diagnosed w/ Non-Length Dependent SFN..
 

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!

Hi PG
 

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:hug:

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?

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..

toxicity
 

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)...

A number of things--
 

--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.

^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.

The trick would be--
 

--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

Thanks for the links, I checked them out, it appears from WUSTL (my neuro verified this yesterday) that for elevated B6 to be of concern it would have to be 10x upper limit of normal (Normal 40–120 µg/l), and mine was 189...so he pretty much said it was probably from foods I have been eating as it was suppose to be drawn after fasting (which it was not)...

On a side note, had my follow up with Dr. Freeman @ Beth Israel who is suppose to be a world renowned expert in autonomic dysfunction/SFN...

He said all relevent tests have been done and that I am one of the idiopathic..I started listed off testing for various heriditary, AB's, toxins, etc. etc. and he said I just dont have the symptoms, I've had 18 neuro evals by 7 different neuros and everyone has been perfect (all sensation, gait, motor function, EMG, etc.) as well as 2 autonomic tests which the cardiovagal, adrenergic, and sudomotor evauls were all normal both times...

Only abnormality was the auxiliary evaul showed "mild" POTS with no resulting hypotension and of course the skin biopsy showing "mild" SFN @ the thigh..

Easy for him to say when I feel so awful, but he said he is almost 100% certain (due to my age, general health, onset, symptoms, etc.) that is is all due to an infection (maybe EBV, cytomeglovirus, etc. all of which I have raised IGG for) that I came down with in Feb.

I've just returned from vacation and found this thread.

It will take me a while to tease out some info for you.

My initial questions are these:

1) How many endoscope procedures have you had total?
Did you know there are consequences to endoscopic procedures?
The equipment may be contaminated and information is coming to light to on this problem. Your tongue issue may be due to the procedures...a consequence of damage in the mouth or back of throat.

2) were you tested for parasites? Did you have elevated eosinophils? Which white blood cells were abnormal?

3) I agree with Glenn... you need to supplement B12 and D3.

4) Are you still urinating so often at night? This is a big clue to hidden impaired glucose utilization. It can often happen when you start to lose weight suddenly, too, as water is shed with the fat lost. But there are serious things that cause frequent night-time urination. So I hope that is over.

5) Were you tested for all the hepatitis variants?

6) Some Gluten intolerance is not genetic, it is acquired. It may be due to frequent use of OTC or RX NSAIDs.

7) Did you use any antibiotics in the past or recent past? Fluoroquinolones? Like Cipro, Levaquin or Avelox

8) do you get any vaccines at all?

9) You might want to consult an Environmental doctor to investigate that elevated arsenic level.

10) You can be high in B6 if you eat fortified foods. Cereals and energy bars, and some other carbs, often have B6 added.
The general testing for blood B6, does not show pyridoxine and active pyridoxal separated. Pyridoxine is not active in the body.
Pyridoxal is derived from pyridoxal kinase enzyme in the liver converting the pyridoxine.

11) low folate is concerning considering that it is also commonly fortified in foods today. You may want to try taking the active methylated form called MetaFolin, in case you are a non-methylator, which is genetic. Did you have testing for MTHFR mutation? It is a DNA test. If you don't methylate properly you will be low in B12 also. So when you take the B12 supplement choose the active methylated form-- methylcobalamin.

16 doctors is a huge number IMO. One thing to keep in mind when you consult so many doctors is that typically they will NOT tell you if you have an iatrogenic issue. Meaning... doctor caused. They have a "code" which protects each other. Many complex problems that follow an initial medical visit and testing, may be iatrogenic in nature. If this is the cause of your further problems, getting help for it will not be an easy task.

Hi Mrs. D, hope you had a great vaca! Here is the answers to the above:

1. I had one in 2007, one in Feb. and one in Apr., I also have one upcoming in a few days. The mouth thing I describe is very sporadic, might be noticeable one day for a few hours than not for 5-6 days... kinda weird.

2. I have been tested for Ova + parasites several times all negative. Eos are never elevated, always right in the middle or low end of normal range. It doesnt say which WBC's were abnormal, just says that 8% atypical were found (they are thinking it may have ben an error though, as the very next day they were retested @ Brigham & Womans and it came back as 1%), this was back in April.

3. Went and got the D3 and 12 today :)

4. I am still urinating frequently (not as frequently as earlier on) I would say maybe once during the night.. but pretty often during the day. Neuro also has me shooting for 3-5L of fluids a day so that may be contributory.

5. I was tested 3x for hepititis, all negative, not sure of the varients though, testing doesnt really mention. Liver values are always perfect too.

6. With the Gluten, it gets raised quite often but I have had every immune, IGG, IGA, biopsies, genetic test, etc. performed multiple times and they keep coming back negative... it would make sense but my docs just keep saying its not possible or like .0000001%. They are going to do multiple biopsies when I have my colonoscopy/EDG next week. Regarding NSAIDS, I have actually never used any, maybe twice in my lifetime.

7. Antibiotics, not really, just in the past month been on Doxy to treat potential lyme, but thats it (and all this started long before the Doxy use). Prior to that maybe once or twice in my lifetime (10+ years ago) but always tetra I think..

8. Vaccines... I def. got some when I was younger, pretty sure they required them for the schools I went to, not sure which ones, just whatever the norm are. I havent gotten the flu vaccine for atleast the past 5 years, just refused it.

9. They retested the arsenic level a month later and its still exactly 13.8, just out of the range of normal. My PCP thinks its very interesting and cant explain it, he did just order a 24 hour urine fractionated? said it'll give us a more accurate reading. I will look into an environmental Dr. tho.

10. As for that elevated B6, they just retested it yesterday, this time fasting and it was down to 29 mcg/L, well within the normal range, they are chalking that elevated one up to me not fasting prior to the test... does that sound right to you?

11. Regarding the folate, they also retested that yesterday and it was pretty low, 16 with ref. range 5.3-99... homocysteine came back 10.3 nmol/mL range 0-14; methylmalonate came back .11 nmol/m range 0-.40...

I've had B12 tested a few times during all of this, results were around 450, 550, and 700 at different times. Havent had it done in about a month. have also not had the MTHFR mutation but will look into it.

16. Lol the list actually just grew to 18 since I posted this, just saw hema/oncolog specializing in Amyloidosis, MGUS, and paraproteinemia... I hear ya regarding being iatrogenic in nature. I am just not sure though, 1. all of my symptoms and illness were present prior to seeing any o the 18 doctors; 2. I have yet to be put on any medication for the current issue and in the past I havent been on any medications; 3. I havent really had any "invasive procedures" i.e., surgeries, etc... ever in my lifetime... I'm just not sure how I could connect it that way.

If there are any tests you think may be relevant please let me know, its greatly appreciated (I may have already had them as I didnt post everything but..) or anyother advice, etc.

The most recent tests I have had are free light chains, SPEP & IEP, ANA titers and quantative immunoglobulins, all which came back good, waiting on cryoglobulins..

Also having repeat skin biopsy done @ Mass General next week, as there is some dispute over the accuracy of the first one done at Umass... apparently the report contains some statements that are contradictary, such as "sweat output was normal at all locations tested" and then a sentence later "QSART test revealed sweat output decreased distally by 33%"... so the neuro's @ MGH said the report is not reliable.

One other thing, the reason they tested for the methylmalonate and homocysteine was to get a more accurate picture of B12?? not sure how that works but what do the above levels say about my B12?

I read the B12 post about how B12 levels can be in normal range but mthylmalonic acid & homocysteine can show an absorption problem...


Thanks

In people with the MTHFR mutation, a serum B12 may show normal. But since they do not methylate properly, that test does not discriminate between the types of cobalamin present.

MMA is a specific indicator to show that the B12 in the body is WORKING. B12 is needed to reduce MMA in the blood and so it gives further evidence in this regard. So measuring MMA is considered helpful in determining if the B12 present is really biologically working.

Some labs do vary in reporting ranges for homocysteine, however. A reading of 10 can be considered a warning. From what I have seen over the years, anything over 8 is considered problematic.
example:
http://andrewwilmot.blogspot.com/200...ne-levels.html
The 3 vitamins involved with homocysteine metabolism are
methylfolate (activated folic acid)
methylB12 (activated B12)
P5P (activated pyridoxine aka pyridoxal 5 phosphate).

It might be a good idea to get the MTHFR mutation DNA testing done just so you know if you have one of the polymorphisms of this. It is not that expensive and can prevent things further along with aging if you have this.

The "abnormal white cells" could be a way of saying... the older term "a shift to the left".... this happens when immature white cells are seen in a differential CBC result. When a person has a serious infection and the body cannot produce white cells fast enough, immature ones are released into the blood, and those show up. An example:
Years ago when I worked midnights, I came down with Shingles.
I had a cellulitis with it, and then developed a very high fever.
This was a pneumonia or pneumonitis that developed next, in spite of the antibiotic I was already taking.
I went to the doctor again, had the CBC differential run and it showed this serious "shift to the left"...And my doctor was stunned and very worried. I had to stop midnight rotations, and she put me on another antibiotic and that seemed to do the trick. So I wonder if that was what your abnormal white cells were reported as?

Gluten intolerance sometimes does not show up in testing. This is because the gluten is entering the body thru Zonulin channels in the membranes of the GI tract. You can Google Zonulin for a long explanation of this. The gluten peptide in genetic celiacs will actually damage the villi and show up in biopsies, but even then not 100% of the time. Zonulin opens "pores" between cells lining the GI tract, and they allow peptides and other large molecules to sneak into the body.
http://en.wikipedia.org/wiki/Zonulin

Some gluten intolerance just increases the sizes of these pores and allows things to pass (including the gluten peptide) and enter the body, leading to various autoimmune problems. So going on a gluten free diet may reveal to you some changes, and improvements. If this happens, you will know that the testing in your case is not 100% reliable.

Also damage to patients from endoscopic procedures is coming to light:
http://blogs.hcpro.com/osha/2010/09/...paign=20100901

http://www.hcpro.com/INF-255900-6987...y-concern.html

http://www.fda.gov/MedicalDevices/Sa.../ucm190273.htm

This article contains lists of pathogens that may be transmitted by endoscopes:
https://docs.google.com/viewer?a=v&q...ric5XJWULH4v-g

Candida:
This yeast is very common. It creates a chemical byproduct called aldehydes which are difficult to metabolize by some people. Increased aldehydes can give many confusing symptoms.
Have you been tested for Candida? One GI thing you can do yourself is to use Kefir 4-6 ounces a day. This fermented dairy product is like liquid yogurt, but it has many more probiotic organisms to re-establish your gut to a more normal function.
I did this last Sept with great success and have a new lease on life as a result!
http://lifeway.net/Products.aspx
The smoothies are tasty and not expensive, and will help many people with vague GI problems. Your use of doxycycline would put you in that category, since this drug is hard on the GI tract.
So please try this... you might be just as amazed as I was.

Exposure to arsenic can cause neuropathy and GI symptoms.
You can get it from contaminated well water, from exposure to and handling pressure treated wood, inhaling smoke from burning pressure treated wood, from criminal behavior poisoning (this is an agent used by poisoners to kill a victim), exposure to some ant poisons.
http://en.wikipedia.org/wiki/Arsenic_poisoning

I'd consider following this clue.

I guess I am still a little confused, I kinda get how the various B-vitamins work together, but I am confused at how my numbers fit in with that...

It looks like my b12 is at an ok level, however this may be pretty irrelevant pending on the MTHFR mutation. Folate is low, as is MMA (but I want MMA to be low? because this shows the B12 that I have is working?)... so since the MMA is low, it follows that the B12 I have is working.

But on the other hand my homocysteine is in the high normal which is not good (I don't get why its high normal...maybe because my folate is low for some reason?)

Also, I am assuming from my numbers, the NLD-SFN they found is most likely not being caused by a B12 deficiancy...and def. not from an elevated B6 since that was ruled out with the follow up test.

Last time I looked, there were 25 variants of the MTHFR mutation.
Some affect methylation at various points. Folic acid has to be methylated to work in the body. So does B12.

This chemistry is very complex. But today in US it is not common for people to be low in folate. That suggests a problem of some sort, because our foods are fortified with folic acid.

Typically when people have low B12 there is a corresponding low in folate. You have the reverse. While I am not an expert on methylation chemistry, I do think your test results are confusing. And yes you want MMA to be low to show B12 is reducing it in the body.

There is another way to test for nutrient status and it is believed to be more accurate than serum testing. It is called intracellular testing and reveals what is inside the cells and not just floating around the serum.

Here is one example:
http://www.spectracell.com/

Some of the newer holistic (also called integrative) doctors, chiros and naturopaths are testing this way.

I think you should explore what you see so far in your testing.
Elevated arsenic is a start. Going gluten free would be something you could do without spending more money on doctors.

Activated folate is available OTC as MetaFolin 800mcg by Solgar.

Just got some more test results back...

Had fat pad biospy, free light chains, serum protein electropharesis, immunoelectrophoresis, and cyroglobulins all come back 100% negative, thus ruling out amyloid and MGUS, which I suppose is a very good thing but still leaves me in the dark.

Getting sooooo sick of docs telling me I had "some" infection back in Feb. that damaged my autonomic nerves, and I'll just get better!! Like some miracle is going to take place...

Yes, those negative test results are a relief for you.

There are infections, that affect the nerves. One is common from poorly cooked chicken called Campylobacter. It can affect the nerves. It was highlighted on Wrong Diagnosis on Discovery Channel. Some of those shows are available on the net, if you want to find it.
http://www.cdc.gov/nczved/divisions/...campylobacter/

We do get people here who have developed PN symptoms following viral or bacterial infections. Some do get better but that takes a year or more usually. That is little comfort for the present though.

I would get that arsenic looked at .... arsenic causes neuropathies. Look under "integrative" or "environmental" doctors on Google for your area for that. Most regular doctors don't know much about poisons.

I hope for your sake you don't have some result from those endoscopes. If you see an integrative physician be sure to tell him/her about them.

I'd also go gluten free, for at least 6months to see if you feel better. It might be revealing and helpful for you. Get that Kefir, too. And integrative physician will test you for Candida. The aldehydes that this yeast makes puts a terrible strain on your system giving all sorts of confusing nerve symptoms. Benfotiamine (a form of B1)300mg a day may help you if you think you have Candida. It supports the enzymes that remove aldehydes from the blood. Your bloating, nausea etc could reflect that. Doctor's Best brand is a quality one that is affordable as well.

So I talked with my neuro...they agreed regarding the arsenic, and did a 24 hr. urine test because its much more specific and accurat than the blood test due to arsenic half life in the blood.

Urine came back high:

Total urine arsenic was 187 range 0-35 mcg/spec
Arsenic Concentration was 75 range 0-35 mcg/L

They are concerned, however because I ate some fried haddock/clams a few days prior to the test they are going to fractionate it and have me redo the test...

Could a small piece of fried haddock (4 oz.) and like 6 fried clams really raise arsenic levels? I read somewhere that its not abnormal to have readings up to 2000 mcg, shortly after consuming a meal heavy in shell fish but justseems wierd...

Also I keep seeing posts about getting MRI looking at the DRG for damage.... I mentioned it to my neuro (3different ones) and they all said it wasnt something I needed for multiple reasons including the fact that I have no findings on EMG and no other neuro examination abnormalities (i.e., gait, reflexes, strength, is all completely normal)...they said if there were something going on with the DRG (neuronopathy/gangliopathy?) then there would be some abnormalities somewhere in my examinations...

Is this true? they told me to stop worrying about that and it isnt a consideration in my case...

Here is some info on the shellfish/arsenic issue:

http://guideyourhealth.blogspot.com/...s-and-raw.html

There is a post on Snopes, claiming the above story in the link is
not verifyable. But I do know that arsenic can change valence from
+5 to +3 and hence become more toxic.
I think most arsenic issues come from tainted well water.
And some military bases have toxin issues too.
http://www.inthesetimes.com/article/...ps_on_killing/

I really don't know much about DRG testing.
En bloc and Glenn would be the ones to ask about this.

Not sure how I missed commenting to this thread.

I sort of (to some degree) agree with the neuros about not doing the DRG testing with the lack of exam abnormalities or even any symptoms listed indicating sensory or motor issues. It's not like it's invasive or anything, but you seem to have had a fairly extensive work up. You certainly don't have to have positive EMG's to have a necessity for DRG investigation, but without symptoms or anything found on exam, I don't see how they would justify it to insurance. I do also believe you would experience some sort of pain, numbness, or other sensory/motor issues if the DRG was a big problem and cause of your problems.

I do see you have some indication of autonomic dysfunction, but there is many possible causes of this, which has already been mentioned (diabetes, even pre-diabetes, gluten, etc.) Of course there is an autonomic ganglia that could be effected, but again I think you'd see other confirmation of autonomic dysfunction before they'd go on that hunt.

The Lyme can certainly present this way. Have you had tick exposure...do you live in an area were it's likely? Did you ever see the typical bulls-eye rash?

My understanding of Lyme is that treatment can take a long time and you may not notice improvement for a while...and it sounds like you just began this treatment. I'm not familiar with Lyme enough to know whether it effects the DRG, but I'd guess it's possible. Glenn probably knows more about that.

What about any autoimmune testing? Do you have any other symptoms you haven't mentioned...rashes, joint pain, etc?

I just noticed your PM. Hope this answers your questions.

Hi, thanks for the response. Regarding pain or numbness, I do have sensations sometimes, not really painful though, its like a feeling of adrenaline or tightness in my glutes, thighs and calfs, weirdly enough it seems to be its worst 1st thing in the morning laying in bed, and appears the most almost like a cycle around the 6th-20th of each month (I know this sounds very strange).

Numbness, i just get little sensations very sporadic (like maybe my right little toe will feel a little tingley when I run up the stairs with no shoes, then when I touch it with my hand it goes away, or sometimes I get a little tingle in the center of my back, again when I touch it it goes away) these are very sporadic, maybe 5 or 6 days out of the month. Absolutley no motor issues.

Regarding the autonomic dysfunction, this seems to be my big issue. just had my 3rd autonomic testing done at Mass General yesterday, same results as the previous two, all testing (cardiovagal; sudomotor; adrenergic) was normal except for tachycardia on tilt test (indicating POTS w/o other autonomic involvement)...


Regarding lyme, I live in probably the most tick infested part of the country, where lyme is ramapnt, I have had tick exposure in the past (I hike, bike, etc. and have pulled ticks off me prior). However, I never did see any bulls eye rash, nor do I have any headaches/joint involvement...but when this all started I did get a weird rash that came and went and no docs go identify, as the months have gone on, it has appeared with much less frequency, last time about 2 months ago (I can post a pic?)

I have seen two prominent LLMD's here in Mass and both think I have lyme, I am very skeptical though, as I am missing some of the major lyme symptoms and pretty much everything I experience can be explained from the SFN/POTs (I think....)

I have had many lyme tests throughout, which have all been very borderline with some lyme specific bands showing, I will post those in a sec. Been on Doxy for about a month now, w/o any improvement or herx that I have noticed...

Regarding autoimmune, I have seen a number of Rhuem's, had ESR, CRP, ANA, ANCA, RF, anti-ro/la, anti-jo, IBD serology, all tested mutliple times and not the least bit postive for any inflamation or signs of autoimmune... I am not sure what other tests might be relevant but I am open to seeing another Rhuem.

Have had immunoglobulins tested twice:
4/13/12: IGG 1110; IGA 298; IGM 61
8/27/12: IGG 1010; IGA 282; IGM 52

They have all lowered a bit, but immunologist (specializes in mast cell disorders) says these are very good numbers and completely normal for them to fluctuate...

Can't really think of any other symptoms... I think I mentioned, Ifelt very ill with GI stuff back in Feb., lost about 20 lbs. in a month or so which is a lot for me, havent lost anymore since then but also havent gained any back no matter what I eat.. ngs seem to wax and wane but I never feel anywhere near normal.

Throughout all of this I have had 5 western blots and numerous co-infection testing:


1. Imugen 2/28/12

IGM they dont perform
IGG 41


2.Imugen 5/18/12

IGM they dont perform
IGG 30, 41, 39


3. Mayo 6/11/12

IGM none
IGG 23, 41


4. LabCorp 6/25/12

IGM 23
IGG 23
CD-57 238 & 11.9% ref. range 2-17%
all coinfection negative


5. Igenex 8/7/12

IGM 41 IND
IGG 23 IND, 34 IND, 39 IND, 41++
IFA Test: 40 (equivocal)
Multiplex PCR: negative all around


6. Quest 8/9/12

IGM 23
IGG 23
all co-infections negative

Well, you certainly haven't lacked in a full work up. The only test I don't see that I think would be worthy is a gastric empty study. With your GI complaints and autonomic dysfunction, gastroparesis (delayed gastric emptying) seems possible and would explain all the GI symptoms.

How's your BP? With the lightheadedness and dizziness, it would be good to check your BP during these episodes. Drops upon standing is consistent with the POTS and would explain the tachy rates as the heart tries to compensate for drops in BP. Treatment options are many to control this and alleviate part of your problems.

Of course, what's causing all this is unknown but Lyme can certainly present with autonomic dysfunction and SFN. With your positive tests this should be considered as the culprit. Autoimmune disease is known to cause false positive lyme tests but your autoimmune work up looks to be thorough. The only thing I don't see testing for is Sjogren's, but you don't mention any dry mouth, eye, fatigue, or joint pain.

BTW, a month of Doxy isn't very long. I had a friend (a farmer who was in great shape) that was in bed for two years with Lyme. Not that this will be your outcome, but Lyme can be bad and cause all kinds of symptoms without rhyme or reason.

While I wait for your reply, I'll search a little to see what I can find on Lyme attacking the DRG. I'd bet it's possible, I have just haven't seen it spelled out in writing yet.

So just got the arsenic fractionation back and its pretty much all "organic" most likely from the seafood I ate prior to the test and not contributing to any of my symptoms...

Funny you should mention gastric emptying test, I actually had a 3 hr. one done back in Apr. which came back perfect. New GI said even people with GP canhave good days so I had another (albeit shorter one, 90 min., laying down the whole time) done last week, just got results a few minutes ago and says its fine again..

I have been keeping a bp/hr supine/standing log for the past 3 months, 2x a day, to track this stuff for the neuro's. BP runs lower than before all this happened, my average is around 108-68, I dont have any blood pressure issues upon standing, just the tach, hr jumps from low 60's to high 90's, sometimes 110-120 range and hangs around that point. I've tried the high sodium/fluid diet an dexercise w/ no luck..

I do have some dry eye (but had lasik eye surgery 2 years ago, which can cause dry eye) and some dry mouth (but I have a deviated septum, which makes me sleep with my mouth open, which could cause this). The sjogrens work up I have had, is the anti ro/la ab's, I guess those are generally present in sjogrens. Rhuem said they'd do a lip biopsy if I want to completely rule it out, but I have heard horror stories of these and would rather have a lip ultrasound done first...just gotta find a rhuem that will order it.

I guess if you do not really think it sounds like my DRG is being affected then I wont continue to press for it, just wanted to get an opinion outside of the various neuro's I've seen. They are all suppose to be good docs, and I've now gotten the same opinion regarding the DRG from several at different hospitals.

I am going to stick to the biotics, just hard when I am not seeing any results and continue to feel horrible everyday, pretty scary, but I guess it could always be worse...

I am very afraid of missing something underlying that may be causing my symptoms, and now I am into reading the stuff about CFS, candida, and various latent chronic viruses (EBV, mycoplasma, and cytomeglovirus, all of which I have elevated IGG but negative IGM levels of)

Oh, and a few other symptoms I noticed I didnt mention:

(1) I have noticed a lot of hair falling out, not huge clumps or anything but when I run my hand through hair comes with it, every time.

(2) I am urinating alot, it seems like through all of this urination has been up, and I wake up a few times to urinate, usually very early in the morning...

my most recent 24 hr. urine test I had to cut short because I filled the 3L bottle and still had 3 hours left in the test (in which I went a few more times) would have ended up being around 3.5L's of urine in 24 hours...

I am wondering if you were tested for Carcinoid?

http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001387/

http://www.oncolink.org/types/articl...TOKEN=67620440

The rash, GI upsets can come with this. Not all of the symptoms are present in every patient at the same time.

This link gives the name of a blood test which is new that can be useful to screen for this. A positive result would then be followed up with other testing:
http://www.cancer.org/Cancer/Gastroi...mors-diagnosed
Because it is thought that these slow growing GI tumors are rare, they are not often looked for by doctors.

So go back and see in your blood work if the Chromogranin A test has been done for you.

Here's my thoughts on the 'good day'. You state you have GI symptoms 24/7, so I assume they were present during the test, right? If so, then it's obviously not gastroparesis. If your symptoms were not present during either test then I'd guess it would leave that window open...but only slightly, as I would think even a mild delay would be noted on a 'good day' if this was a significant problem. Of course being tested while you're experiencing symptoms is best, but doesn't always work out that way.

Your BP sounds good. Are they treating the POTS and tachy rates?

Sjogren's patients have dry mouth all day, not just upon waking after mouth breathing in the night. Same for dry eyes...foreign body sensation, gritty, and lack of tear production. I missed reading that you had the labs (SSA & SSB). Keep in mind that only 40% of Sjogren's patients have positive labs. The lip biopsy is required by most criteria for confirmation. Sure there have been some with negative procedures. You'd likely be able to find horror stories about any type of biopsy...or even a tooth extraction or ear wax removal, if you're reading this online. I have talked to a couple people that truly had a bad experience, but most did fine. I have a tiny little lump that's numb, but certainly not noticeable or bothersome. I would suggest though (if you choose to have it done) that you do so in a hospital that does many-- by a doctor with good amount of experience. Ask questions about their procedure, biopsy grading scale, and experience...be an informed patient.

As for the urination. Is your input consistent with your output? I don't see a glucose tolerance test (long one) among your list of completed tests. As MrsD mentioned earlier in this thread, impaired glucose can account for increase urination.

Where was the rash you mentioned? Did it itch? How long did it stay?

Sometimes (most times) diagnostics is like a puzzle. You can spend months(if not years) investigating to find a cause...and still not find it in some cases. You cannot expect to get diagnosed online. We are here just to help explore ideas so you can have intelligent and helpful discussions with your doctor so they may get you some answers. I would suggest that you at least seek out treatment for the bothersome symptoms you have while you continue your search for causes. There are a variety of treatments for POTS and many options to help alleviate your GI symptoms. Discuss these with you doctor.

Chromogranin A was tested on 4/11/12, it was 34 ng/ml, ref range 0-95 (which looks a little high, but I guess it can vary)

Also had urine 5-HIAA test same day, which was 2 mg/g, ref range 0-14

I see my PCP today and will mention the other test though, maybe he will order it.

I totally understand, any help with possible ideas is much appreciated, my docs (for the most part) are open to my thoughts and suggestions, and much of the testing that has been done has been brought up by me, so anything is welcome.

Gegarding the gastric emptying, I was def having symptoms the first time I had it done and also this most recent time, maybe to a lesser degree. I would also think there would be some small sign of delay, but the resuls dont show that. GI insists that it could still be delay issue and says the tests arent very accurate (well then why ever order them, lol). I have a "smart pill" procedure in a few months will Dr. Kuo @ Mass General, all he does is motility so hopfully he'll give a percise answer, doesnt help now though.

Yes, thoguhout, for the most part my bp has been good, never drops much upon standing and does what it should, however itis much lower than it use to be prior to this. Use to run mid-120's/high 80's... as far as treatment, they said they'd prefer not to add meds because the numbers arent severe enough, but considering how bad I feel.. They had me try the high sodium (5 gram) and high fluid (3L+) diet to raise my blood volume/bp but I didnt notice anything. I also read that if you are deficient in certain hormones (i.e., aldosterone, etc.) increasing salt wont help much... might it be worth checking to see if I have the correct levels for the sodium/fluid treatment to work?

Regarding Sjogrens, I thought this may be a possiblity all along, but my version of "dry eyes" and "dry mouth", although a bit bothersome to me, dont seem to match up with what I read people describing online...I'd really like to find a Rhuem that will do the salivary gland ultrasound prior to jumping to the biopsy, maybe if ultrasound is 100% normal, then theres no need for biopsy (atleast from what I read)

Regarding the urination, I am having a 4 hr. OGTT test next week, not sure if they are testing insulin as well though. I cant really tell if I am putting out as much as goes in but I would probably say yes, although I thought the body should retain quite a bit of what goes in no? it almost feels like my body barely retains any of the water, but not really sure how to check this, other than testing certain hormones?

Regarding the rash, it was very strange, I will post a pic later on. It was flat, not raised at all, little pin dots, not itchy or anything (wouldnt even know it was there unless I saw it by lifting my shirt). Usually appeared on my chest, or abdomen, lasted roughly an hour then started to slowly fade. In the beginning it seemed to happen a few times a week, and as the time has gone on, the occurances seemed to spread to once weekly, every two weeks, and so on, last time it happened was probably like 2 months ago.

Again, I am welcome to any and all ideas and things I can raise ith my doctors, other possible conditions to explore, testing, etc.

Thanks :)

Are they at least treating your current symptoms...GI & POTS? If so, with what?

Glad your getting the GGT done. How's your B12 & Vit D?

they arent treating anything! and I continue to feel like garbage everyday...

they have me trying the high sodium/fluid diet currently for POTS but it isnt doing anything, havent felt any better nor seen any improvement in the bp/hr numbers...

I actually read that if you have any issues with your aldosterone/renin hormones than the high salt/fluid wont do anything... sd like to have those looked at but the POTS neuro said to give the treatment a few more weeks

GI, gain not doing anything because they dont have anything to go on... I am taking probiotics but thats it. I have some nausea pills if it gets bad, but nothing for the general ill feeling, bloating, etc.

B12 has been pretty good high 400's to low 600's I think, D has been low, around 23...

I am really contemplating going to Mayo (even though Boston is suppose o have some great hospitals) with the workup I have already had and all my files, I'd think Mayo might be able to review everything and figure things out. Only problem is they dont take my insurance so it would prob be like $20k out of pocket... :(

So lost, not sure what to do... mayo? is there some place better?

I went to Mayo back in '97 and have been treated at Johns Hopkins since 2006 (still at JH now). Hopkins is by far (IMO) better for neuro and autoimmune related problems.

Too bad they are not treating symptoms after this amount of time. I understand masking symptoms making it hard to properly diagnose, but at some point you need relief.

Yea, thy said I could try midirone (sp?) for the POTS if I want, but that they arent sure it would really help any, and of course I am afriad of taking new drugs... but I guess its very short acting (suppose to raise my bp and someone make the HR jump less upon standing...)

As far as Mayo, are them and Hopkins pretty much the two options in the U.S. that take on "hard unsolved cases" and do a super condensed work-ups? If I am considering this route is there anywhere else I should consider?

I always thought Hopkins was more of a normal hospital scene like Mass General, where you can get appts. with specialists, and testing, spread out over months, whereas Mayo is a group of specialists all working on your case at once, getting multiple tests done each day...

Hi PG
 

yes, you are right about mayo clinic. They are a huge group of specialists, who converge on you. Lots of testing gets done very quickly. I received my diagnosis within three days. JohnHopkins also has a good reputation, but I think for DX on complicated cases, mayo is the place to go. I would recommend this place for anyone who has trouble getting to the bottom of the problem. You may not like what they have to say, but they do find out! ginnie:hug:

Midodrine is a vaso-constrictor and yes it's fast acting, but short lasting. It is helpful for the POTS by raising BP which helps the tachy rates. I take it along with Florinef (another common med for POTS). However, you said your BP doesn't drop upon standing...just that your HR increases. Is your HR high otherwise? What does it run on average not during events?

Mayo is best if you want work up all at once. It will be multiple tests a day. They are efficient for sure. What I don't like about them (and many others who say the same) is that they do not look outside the box. They have criteria for everything and if you don't fit 'clearly' within the criteria, then you don't have a diagnosis. This is especially true for autoimmune conditions...and even PN. This can make it difficult for patients like you with lots of negative tests but clearly something going on. I can guarantee you that they would never say 'you were just having a good day' with the gastroparesis. If the test is negative...it is negative.

You should get online and review each of their websites for info on comprehensive work-ups. Make some calls and consider insurance options. There are lots of good hospitals...but I only have experience with JH, Mayo and a couple in the Dallas area when I lived there.

I just went back to your original symptom list.

Seems you have several symptoms of chronic pancreatitis.

fast heart rate
pain in the mid back
nausea
bloating
weight loss
blood sugar abnormalities (feeling cold etc)

http://www.webmd.com/digestive-disor...s-pancreatitis

Since many of your initial symptoms remain and are gastrointestinal, I'd focus on that. Treatment is usually dietary, by avoiding alcohol, and avoiding a high fat intake.

Hi
I am sorry for all you are facing. When I came to the boards 5 years ago I was 28. Like you I had every dx test multiple times,traveled to hospitals out of state,many specialists. So though I know it may not help you are not alone. A few thoughts and I am sorry if you mentioned it.
First though I did not go to Mayo but I did send my records for them to review to see what they thought. You may want to call the neurology dept and ask them about that before you fly out. Also did you state are you being treated right now with any meds or other? I ask because out of all the neuros and other specialists my anestesologist/pain doc gave me insight and direction too. Now for myself I still dont have a why behind my peripheral neuopathy and I do have RSD to. I have other symptoms as you do such as eye problems etc as well. Obviously not knowing the why behind makes it harder to treat.
Ok sorry now to my ?s before you stated you were healthy but can you think of anything even if it was small such as being sick a lot, did you fall,injury,break anything, meds or other you were on?
I wish I could offer more suggestions. I am not an expert like others here on medical but I do know what you are going through the frustration,fear,pain,confusion. On a side note make sure to keep all your records so you can take them to the next apt. Also anything you have tried meds or treatment wise. You may want to keep a diary too of pain and symptoms. Hang in there

When resting or not standing, my HR is usually normal to low (depending on the time of day) during the day resting may be anywhere from 65-80, at night while laying in bed, its usually 50-60 tops, sometimes if I am real tired it'll be around 48/49...

Usually when I do my a.m. bp/hr log, my hr will jump from 60-65 to 90-105 range... then there are some days when it'll have a normal jump around 20 and others when the jump will be 50... no real rhyme or reason that I can see.

I would like a work up all at once, and it seems like Mayo is the only center that works like this? maybe cleveland clinic? but with all my various system involvements, I am thinking mayo may be the place for me...just gotta try and find a way to fund it.

I will mention this to my gastro, I see her Thurs. for a colonscopy/endoscopy double dip... I have a feeling she will likely say its not relevant because dont have any stomach pain, or enlargement, although it makes sense to me, i certainly have a lot of the symptoms...not to mention the GI stuff could be totally unrelated to the SFN/autonomic stuff (seeing as how the GES keep coming back ok) and the GI stuff far predated the other symptoms.

Hi, thanks for the kind words, I am currently not being treated with any meds and actually have never taken any meds in my lifetime, except for some prilosec years ago for heartburn.

Thinking back prior to this, I would say starting last July 11' I began to get sick kind of often with what felt like mini-flu (with no temp tho) or maybe mini-colds once a month, or a day here and there when I just didnt feel right, then a few more severe episodes in Oct. and Dec. 11', then the big downhill episode in Feb. 12' and a week long one in March when I was really sick with sore throat, congestion, fever, malaise, for a week, felt like a true flu...

In the years prior to all this I felt pretty good for the most part, was in law school, had a lot of stress, had some anxiousness sometimes, headaches every now and then, more milder GI problems...

On a side note...saw yet another Neuro today, this time at Mass General, it was a waste of time...

Did neuro exam again, said everything was normal, except he noted there may be some slight weakness in my big toes? no one ever mentioned that before, also mentioned had slightly high arches in my feet and asked if I was clumsy or non-athletic when I was younger... I said no, as I played soccer and basketball, all as a youth and throughout highschool..

Reviewed the tilt and brushed through some other stuff, said I'd had a good workup, he said slim possibility of neuropathy, because although the bipsy shows some reduced fibers at the thigh, most all people would present with sme sort of pain, numbness, etc... but did not rule it out, said I may have what appears to be strictly autonomic neuropathy, with no sensory or motor involvement, just autonomic, and within the autonomic the only abnormality was in regards to the tilt test, other systems were spared.

Doesnt really think the GI stuff is related, thinks there is two seperate issues going on. Didn't order any more testing or provide any more insight, treatment, etc, just sent me on my way....useless, said to give him a call back if I notice my sis or mom have high arches.

Off to get an EEG done right now...they said it'll take 3 hrs. should be fun!