Avatar universal

10+ Years, Still No Diagnosis

Since around the age of 14 I've been experiencing a growing array of symptoms. It started with joint pain and migraines as well as other things I didn't realize were abnormal until recently (such as frequent mouth ulcers and the redness on my cheeks/nose). Since February my symptoms have been hitting me hard, and all at once. In April I had to go to the ER (first time in 20 years) because I woke up that morning and crumpled to the ground when I tried to stand, due to having no feeling in my limbs (and tingling remained in the left foot for a week after).

At this point I am pretty stuck. I have a long list of symptoms (some debilitating, others a nuisance), a 10+ year history, and no end in sight. I am only 25, I have been unable to finish school and have no job (*shameful). After continuous reading and eliminations, only MS or Lupus explain all of my symptoms. At this point I am pretty convinced it's not MS, but I guess Lupus can't be ruled out since ANA test are unreliable. There are a few others that fit a decent portion of my symptoms (Wilson's disease, Bechet's, Hyperhomocysteinemia, Takayasu's arteritis, Neurosarcoidosis) but it's difficult to see them as viable explanations, so I keep coming back to Lupus.

So I am making a desperate plea for any other possible explanations. (I have even considered emailing doctors that might be able to help, but haven't found any yet). For anyone out there reading this here is my history in an easy to read list format:

-[U]Joint pain/stiffness[/U]/constant cracking-10+ years (every joint; not usually symmetrically occurring)(worst in: hands, knees, spine)
-[U]Migraines[/U]-10+ years (duration= 3 days, 5+ times per month)
-[U]Mouth ulcers[/U] (painful)
-frequent [U]swollen glands[/U]
-[U]Paresthesia[/U] / numbness / tingling / painful burning tingling - 6+ years  *not typically symmetrical* (numb ring around a toe, one side of face, from shoulder to fingertips, leg, adjacent fingers or toes, hip and butt area, foot, head, back, and [U]All Limbs Upon Waking Up[/U]!)
-[U]Drugged feeling upon waking up[/U] (must wait to regain partial feeling in limbs, then stumble around holding onto walls because it feels like my muscles have been replaced by sand).
-Face (+breath from chest up through to mouth and nose) feeling hot & [U]feverish with no fever[/U], and not hot to others - 7+ years
-Rosacea / or Malar rash (dermatologist isn't sure anymore)
-[U]Gluten Intolerance[/U] (leads to [U]bloating[/U])- 7 years - (now bloating from ingesting anything)
-[U]Bladder issues[/U]- 7 years (have to go constantly, but no infection)
-[U]Dizziness & blackness[/U] upon standing up (have to hold onto something or sit back down)
-[U]Involuntary movements[/U] (hand suddenly releases while carrying something, right leg always moves inward while sitting & right foot jerks upwards)
-[U]Swallowing Difficulty / tongue stiffness / throat tightness[/U] (makes talking unpleasant) 6 years
-Clumsiness (drop/knock over/ run into 20+ things per day)
-[U]Extremely poor memory and concentration[/U]
-[U]Muscle Spasms[/U] (thigh muscle will contract then the legs will shake violently, then stop for a minute, then repeat for an hour+)
-Small spasms in muscles and now in [U]right temple[/U] - 2 months
-[U]Extreme fatigue[/U] (no matter the amount of sleep)
-[U]Heat intolerance[/U]  
-[U]Scalp tenderness/pain[/U]
-[U]Outer ear pain[/U] 4 years
-[U]Chronic swollen Taste buds[/U] 1 year
-[U]Jaw pain/fatigue[/U] - 2 months (can't get through meals even with soft foods like pasta)
-Rare reactions and long recovery times to minor surgeries
-High intolerance to many medications (yet I'm only 92lbs and have a low tolerance for alcohol)(I won't even accept pain meds now because not even Vicodin has ever had any affect on me).

Things Already Ruled Out:
-B12 deficiency
-Vit D deficiency
-Thyroid (normal on bloodwork and MRI)
-Lyme (tentatively; I've been on a Tetracycline for several years for Rosacea with no change / never any rash / always been paranoid about ticks (and other bugs) so likely would have noticed one on me)
-Stress/ anxiety / depression
-*Basically all of the usual's are out (there's more but I can't think right now)

Tests: (the ones I can remember)
-vit D
-all other standard blood tests
-Sjogren's AB, anti-SS-A/-SS-B
-CCP antibodies
-RA Factor
-Creatine Kinase, total serum
-Brain MRIs (twice) - 1 small lesion, dilated virchow-robin spaces
-C-spine MRI - 2 moderate bulging discs
12 Responses
Sort by: Helpful Oldest Newest
1756321 tn?1547095325
Dysautonomia and Ehlers Danlos Syndrome come to mind. EDS is a cause of dysautonomia btw.

Helpful - 0
Avatar universal
Thanks Red_Star,

As I understand it, Dysautonomia is not a single disease, rather it encompasses a variety of conditions impacting the Automatic Nervous System. Did you have a specific ANS disease in mind?
Helpful - 0
1756321 tn?1547095325
Medhelp states this info: "Two of the most commonly occurring forms of Dysautonomia are Postural Orthostatic Tachycardia Syndrome (POTS), and Neurally Mediated Hypotention (NMH)."

More info...

Autonomic Dysfunction FAQ:
Helpful - 0
Avatar universal
You list the tests you had but not the results. Can you post any of the relevant positive ones as well? Are you anemic or showing any odd blood characteristics?
Helpful - 0
1530171 tn?1448129593
Sorry about all your suffering and unresolved issues.

The greatest danger, comes from the things we "think" we know and not  from the unknowns.

There's a great likelihood that  some of  the processes of ruling out the aforementioned deficiencies and conditions  in your second last reply, are flawed or inefficient.
This keeps you in perpetual limbo.

If you want to explore this further, you must post tests, tests results, including all lab ranges and any other pertinent data, notes ,remarks,etc.

Best wishes.
Helpful - 0
Avatar universal
Sorry for the lack of clarity. The only tests that have shown any abnormalities have been the two most recent MRIs. All of the blood tests that I have listed have come back within the normal ranges (many of them I've had done multiple times over the years). I only have the most recent test results that the Rheumatologist ran (I will need to contact my previous doctors to get the other ones, I just have a list of what was ran in my health folder), but here those are:

BUN - 11
Creatinine, Serum - 0.77
eGFR if NonAfrican Am - 108
BUN/ Creatinine ratio - 14
Sodium Serum - 141
Chloride, serum - 100
Potassium, serum - 3.8
Carbon Dioxide, total - 25
Calcium, serum - 9.9
Protein, total serum - 7.7
Albumin, serum - 5.2
Globulin, total - 2.5
A/G Ratio - 2.1
Bilirubin, total - 0.4
Alkaline Phospatase, S - 76
AST (SGOT) - 19
ALT (SGPT) - 13

Sjogren's anti-SS-A - <0.2
Sjogren's anti-SS-B - <0.2

CCP antibodies IgG / IgA - 12

RA factor. RA Latex Turbid - 6.2

Antinuclear Antibodies, IFA - negative

Creatine kinase, total, serum - 45

Oh and I am not anemic (I believe that was asked by someone)
Helpful - 0
1530171 tn?1448129593
Hey Ginger,
It's not a matter of unreliable ANAs.
They are not diagnostic on their own because a small percentage of unsymptomatic & healthy subjects have elevated ANA titres and ANAs are not necessarily  exclusive to one condition either (as patterns must also be taken into consideration along with other criteria)
These tests, along with other tests, medical history and physical examination, are designed to help the clinician  arrive to a diagnosis.

Your Rheumatologist, in order to diagnose or rule out Lupus
has to go through the complete list of criteria as follows
(it seems to be "too much work" for many Rheumies, so many times it is not done)

If you have at least four of the criteria on the list, either at the present time or at some time in the past, there is a strong chance that you have lupus.

Malar rash – a rash over the cheeks and nose, often in the shape of a butterfly
Discoid rash – a rash that appears as red, raised, disk-shaped patches
Photosensitivity – a reaction to sun or light that causes a skin rash to appear or get worse
Oral ulcers – sores appearing in the mouth
Arthritis – joint pain and swelling of two or more joints in which the bones around the joints do not become destroyed
Serositis – inflammation of the lining around the lungs (pleuritis) or inflammation of the lining around the heart that causes chest pain which is worse with deep breathing (pericarditis)
Kidney disorder – persistent protein or cellular casts in the urine
Neurological disorder – seizures or psychosis
Blood disorder – anemia (low red blood cell count), leukopenia (low white blood cell count), lymphopenia (low level of specific white blood cells), or thrombocytopenia (low platelet count)
Immunologic disorder –anti-DNA or anti-Sm or positive antiphospholipid antibodies
Abnormal antinuclear antibody (ANA)

Have you had any hormonal/adrenal/endocrine testing and if yes, what tests, results and Lab ranges, if you have them.
The same with your Thyroid tests.

What testing did you have for Lymes? Ever tested for Co-infections like Mycoplasma, Babesia, Bartonella etc?
(The majority of Lymes sufferers were never aware of any tick bite, BTW!)

Any testing for candida, leaky gut syndrome?
Do you have your B12, D3 test results and if yes what were they?

I have a few suspicions, but I will let you respond again , before I comment again.

Best wishes.
Helpful - 0
Avatar universal
Yes I know of the required criteria for Lupus, and I have met it, but my Rheumatologist out-rightly said that without a positive blood test he would not diagnose Lupus.

What I don't want is to get stuck on it being Lupus, if there are other things out there (that haven't been ruled out) that it could just as likely be. I consider myself a scientist, and want to remain as impartial as possible.

As for the B12 and Vitamin D3 tests; I have had them ran many times in the past decade (and have always been told they were completely normal) but do not have the actual numbers on hand. I plan to start obtaining those records shortly (I was a minor for several of them). The same goes for any thyroid and other hormonal tests (that can be conducted through blood tests or MRI of the head and spine).

As for the Lyme, I won't rule it out completely, however my symptoms did not present as they often do in the early stages of lyme disease and I don't believe it wouldn't account for all of my symptoms. Additionally, as I mentioned in my original post I have been on antibiotics for a few years now to treat my Rosacea (which is the same treatment for lyme) and I've had worsening symptoms.

Please list what things you're thinking of so that I might analyze their likelihood. I am not new to this. Many years ago I discovered that I would have to be my own health advocate and conduct my own research, as my doctors were unwilling to consider my symptoms as a whole.
Helpful - 0
1530171 tn?1448129593
Hey Ginger, this is gonna be a long reply!

-- Problems with Vitamin D absorption, assimilation & resistance to vit D:

*General Inflammation and G/I inflammation(Very common with low thyroid sufferers) or Leaky Gut Syndrome.
* Low fat diet or issues with fat digestion also relating to not enough cholesterol for hormonal AND vitamin D synthesis ( vit D is fat soluble)
* Obesity
* certain drugs
* high cortisol
* Vitamin D Receptor (VDR) gene mutation  ( genetic /autoimmune) or decreased VDR expression, common with hypothyroid & Hashimoto's sufferers also.
In this case need increased levels of D, above and beyond normal serum levels, for optimum function.

Also did you know that deficiency in vitamin D leads to vitamin B12 and B-complex deficiency as low vitamin D can affect the G/I system and its ability to absorb and assimilate certain nutrients and vitamins?
Also your D3 levels (vit­a­min D 25OH test) should be about 50- 60ng/ml
Memory and other neurological issues, are indirectly associated with low vitamin D, which by the way affects over 3000 genes!

---Vitamin B12
Inorganic mercury may cause a B12 deficiency in the nervous system
as it accumulates in the Blood-Brain-Barrier and restricts Methylocobalamin (the only form  of B12, used in the nervous system) flow through the BBB.

It is possible to have normal B12 levels through an MMA test, yet have a B12 nervous system deficiency, so a  test for homocysteine levels in the CSF is needed.

B12 levels should be 500pg/ml minimum to avoid neurological issues.
500pg/ml is the minimum low range in EU much higher than the N.American min. low range.

---Adrenal deficiency (hypo-adrenalism or adrenal fatigue syndrome)

This is another condition which should be ruled out, specially in cases where
internal and /or chronic stress is present. In your situation it is highly
suspect as the stress dealing with  your 25? symptoms place a huge demand on the adrenals, something unsustainable over extended time.

Adrenal deficiencies are not recognized by conventional endocrinology unless it is Addison's or total adrenal failure.
One particular test, which I suggest you look into, only as a reference,
is the Functional Adrenal Stress Profile, a salivary test which measures the
bioactive levels of hormones (cortisol x 4 and DHEA-averaged) by BioHealth
Cortisol regulates the immune cells in our gut so when cortisol is depleted those cells become dysregulated, making us more susceptible to pathogens like bacteria, yeast, and parasites.

Hypochloria, hypothyroid (secondary), weak digestive factors, abnormal serum cholesterol, lowered immune function are some of the many presentations of adrenal fatigue syndrome, which you should get ruled out first before others, to my opinion.
There's an adrenal assessment (screening) questionnaire, I can send you, if you wish, but it's best to do this after you have done Dr. Barnes Basal temperature test.

--Gluten sensitivity . Look into Cyrex Labs for details in Gliadin testing.
They test 12 forms-not just the alpha ordered by most doctors- of gliadins regarding gluten intolerance (not necessarily digestive).
Now they can also test which part of the body is affected.
Also from Cyrex Labs,  Cyrex Labs,Cyrex Array 3, tests for Wheat/Gluten Proteome Reactivity & Autoimmunity.
Cyrex Array 4, tests for Gluten-Associated Cross-Reactive Foods and Foods Sensitivity.

---Thyroid testing

Thyroid Serum testing is flawed, as it is not
indicative of  cellular thyroid function i! Most conventional doctors order TSH,T3 and T4 at best. You need Free T3, FreeT4 and Reverse T3 to determine accurately your thyroid function.
You can do on your own Dr. Barnes Basal Temperature test for thyroid function, just follow the online instructions precisely.

---Infectious conditions:

Lymes, Mycoplasma, Babesia, Bartonella, Ehrilchia and other co-infections are notoriously difficult to diagnose.
You need probably an LLMD (Lyme Literate Medical Doctor)
and the best Lab to deal with is IGeneX Labs in Palo Alto, CA.
You may also want to check out Dr. Garth Nicolson, the top expert in
these types of Pathogenic Infectious diseases, who is also a part time
contributor in MedHelp
Pathogenic Mycoplasma evades detection from all standard blood tests, as it hides within the tissues and enveloped in actual cell membrane where  even the immune system cannot recognize it,
Antibiotics are not effective as they are at best slightly bacteriostatic against pathogenic mycoplasmas and other co-infections, unless the exact one is used -  I think treatment with  doxycycline may have better bacteriostatic action , not bactericidal , and if a strong immune system is given ample time, it may be able to detect the mycoplasma, tag it and destroy it, only under close to ideal conditions!!
Unfortunately most infectious disease specialists are not necessarily your best choice. I can offer you the reasons, but it is a huge controversial subject which I'm not going to get into at present.

---Leaky gut syndrome.

Any foods that go undiagested past the stomach ( due to low gastric acid) or when someone suffers from leaky gut , substances from ingested foods and liquids leak out from the intestinal wall (intestinal permeability)and end up in the tissues or the blood stream, causing havok.
Inflammation, toxicity, lowered immunity are some of the results and unfortunately the medical community does not address this well at all!
I do not think this even taught in medical schools, so in the absence of an
established  medical diagnosis for leaky gut syndrome, there would be no proper treatment, other than symptom management.

The test to ask for this is a simple urine called PEG.
It is very important to rule this out, specially if you have/had candida.
For an easy self-screening test, do a search for saliva test for candida.

--- Magnesium deficiency
Look into hair analysis for minerals as certain mineral levels-magnesium in particular- should not be determined by serum testing as there's a protective mechanism which keeps the magnesium serum levels at 1%-1.5%

--- Heavy Metals & Minerals testing (hair/tissue analysis for initial testing)

* Aluminum can be a factor in Alzheimer’s disease.
* Cobalt deficiency can be responsible for bad circulation, migraines, and

* Copper deficiency can cause elevated cholesterol levels, anemia and
chronic infections, etc
* Lead can cause depression, nausea, fatigue, communication and
concentration problems, developmental problems, neurological and
movement disorders, and more.
* Mercury can cause depression, fatigue, developmental disorders,
neurological and movement disorders, and more.
* Magnesium deficiency can cause anxiety, depression, spasms,
movement disorders, etc.
* Zinc deficiency can be responsible for allergies, developmental
problems, hair loss, acne, weight problems, and more.

Time to catch some ZZZs.

Hope this helps get some answers.
If you have any questions, let me know.

Wishing you well.

Helpful - 0
Avatar universal
Thanks for all of the time you put into writing all of this up. I've read through it a few times now and I have been researching the things you mentioned.
Helpful - 0
Avatar universal
I have a lot of similar symptoms as you. I was sick for well over a decade before they were able to help me, and it's still a daily thing

I had Lyme (never knew I got bit a lot of times the ticks aren't large or fall off. the tests are wildly unreliable so if you're not sure go see an infectious disease do to and have the test sent to a reliable lab. I had two equivocal tests before I had an official positive. My understanding is only penicillin and doxycycline are used to treat Lyme

Have they tested you for hoshimotos thyrodists. That's probably spelled wrong. My thyroid levels tested fine but my doctor ran the test anyway and I was positive.

I also was recently diagnosed with pre lupus and am on an anti malaria medication to balance out my immune system.

Before I was diagnosed with all of this I was on an anti inflammatory diet that I found seemed to take the edge off.

Hang in there, it's hard, and soul crushing to go through this stuff but you have too keep fighting. And give yourself things to look forward to, simple stupid things. A movie with friends, at your house in your pjs so even if your having a bad day you can still be there. A really good dinner you buy for yourself. I sometimes buy myself something I've wanted for a really long time but never could justify getting. But keep an eye on that last one, my last credit card bill def did not help me keep my stress levels down ;)  
Helpful - 0
Avatar universal
Thank you for replying Jes389,

Before being put on a Tetracycline, I was on Doxycycline for a year (I was switched because I had severe photo-sensitivity).

I haven't been tested for Hashimoto's, however I don't seem to have "extreme cold sensitivity," "puffy face" or "weight gain."

What foods are included in an anti-inflammatory diet?
Helpful - 0
Have an Answer?

You are reading content posted in the Lupus Community

Didn't find the answer you were looking for?
Ask a question
Popular Resources
Herpes sores blister, then burst, scab and heal.
Herpes spreads by oral, vaginal and anal sex.
STIs are the most common cause of genital sores.
Condoms are the most effective way to prevent HIV and STDs.
PrEP is used by people with high risk to prevent HIV infection.
Can I get HIV from surfaces, like toilet seats?