Hunting Down What's Wrong...

[Quidam19]

Hello everyone. First post here, though I've been reading the forums for a week or two now.

I'm 26 and was diagnosed with Undifferentiated Connective Tissue Disease in September 2012 based on symptoms of joint pain, fatigue, and slight positives on ANA and C-Reactive Protein tests.

Since then the pain and fatigue have increased, always in cycles, in addition to several new symptoms including heart flutters, occasional insomnia, floaters in my eyes, TMJ, brain fog/confusion, shaking in my hands, and Raynaud's-type reactions.

The pain in my muscles and joints is worst in my knees (sometimes I can't walk very well and I can't spend more than an hour in the car) as well as my fingers and often my neck, though it does show up in nearly all parts of my body.

I was treated with Plaquenil for a year, but my rheumatologist has recently taken me off the drug as he doesn't think it is helping. I'm now back to a wait-and-see approach with my health, which I'm really not fond of. I really like my doctor and he has listened well thus far, but I'm starting to wonder/worry if without an obvious symptom he doesn't know what else to diagnose me with.

In this last run of tests in January I did ask them to test for Lyme. They did and told me I was negative. I asked for my results (habit, I always do) and found that the Borrelia antibody was positive, but western blot was negative. Done at a local lab. My C-Reactive protein is now well within normal range, though my ANA count has increased to 1:320. Doc is comfortable now calling it Diffuse Connective Tissue Disease, but nothing more, simply saying that it has symptoms of other things like lupus.

We have tested several times (including just last month) for RA, lupus, and others, and recently ran protein panels, strep antibody tests, and more that I can't remember offhand. Everything negative. I do have low Vitamin D (21) and was just put on once-weekly doses of 50,000 IU. I started this Saturday morning and spent part of yesterday and part of today with lots of stomach pain, nausea, and headaches. Only my first dose so not sure if related or not. I've had low Vitamin D before, about a year and a half ago, and it was treated with 5,000 IU daily doses, which didn't seem to change my symptoms but did recover my count to an acceptable level.

I suppose at this point I'm not sure if I should push for a retest at IGeneX with my doc or what since the Borrelia was positive even though western blot was negative. I have read that lupus can cause a false-positive with Borrelia, but I don't have any of the lupus antibodies either even though connective tissue disease is related to the lupus family.

I'm new to the community and curious to read others' experiences. I'm happy to give more detail if anyone has questions.

[Ricobord]

When I got my IGeneX WB results back, I was amazed to realize that if I'd had the Western Blot done at any other lab, the only band that would have shown a positive was band 41, which lots of people without Lyme have. (That band is triggered by the flagella on spirochetes.  Millions of people have benign dental spirochetes.)

The Lyme specific bands that I did show are bands that are ignored by the CDC surveillance criteria, but IGeneX shows them anyway. Any doctor looking at my results and following the CDC would have said there's no way I had Lyme.  This is as I was hospitalized and severely ill with about 50-60 symptoms, and no answers from any doctor!

I am convinced that the CDC Lyme Disease testing is a root cause of the suffering of countless undiagnosed Lyme patients.  It seems to me to be badly designed, and truly indefensible.  Without IGeneX, I don't know if I ever would have gotten a diagnosis.

Note: some people with long term illness are also negative at IGeneX. There are many stories of patients who don't get a positive until well into treatment, after they have partially recovered and their immune system is once again making antibodies, enough to show up on an antibody test.  The only hope for these patients is an experienced LLMD who knows how to make a clinical diagnosis when appropriate.

[cave76]

Good luck! Let us know how that goes.

[Quidam19]

I've decided to take everyone's advice and I now have an appointment with a LLMD a couple of hours away from me on March 3rd. After lots of thought I think that really is just the best (and smartest) option for me.

Here's hoping for some answers, and if not Lyme, hopefully a fresh opinion and nudge in the right direction!

[Quidam19]

That's what I'm thinking I'm going to do. Start with the Lyme panel and go from there. The closest LLMD I can find is 3 hours away and I will certainly go if it comes to that, but for the moment I think it's better if I just test first and see what happens. I can't drive myself for that long of a duration due to my knees so there is that added difficulty. All sortable things that can be taken care of if need be though.

I've tracked my symptoms for 19 days thus far and have noticed there are 7 days (on my personal scale of good to bad) that I couldn't rate as good. And that's without a proper 'flare' which until the last few months is what I'm used to experiencing. And all of the good days still have symptoms on them, usually several.

I'm kind of rating 'good' based on how well I can keep functioning throughout the day. I probably should have rated a couple of the days lower, but I feel like I'm giving in when I do that. >_< If I rated it on symptoms, well, my truly 'good' days are done for the moment. I'm starting to forget what it's like to feel really HEALTHY. It's been too long and I'm only starting to recognize that.

I'm not sure if it was ELISA or not that was run prior to my Western Blot at the local lab (the lab results list it kind of strangely) but that's the one that did come back positive. No bands on WB came back, but with the first one positive and with the stories I've heard of local labs I just don't trust it.

If my results come back positive from IgeneX I'll definitely contact a LLMD. If they don't I probably still will, just to get evaluated.

I'm so sick and tired of feeling sick and tired.

[Ricobord]

I was desperately ill and did the whole Lyme and coinfection panels.  But for many people, that isn't necessary.  You can certainly start with the basic Lyme screening test & Western Blot.

The PCR is more often false negative than the WB.  But when a PCR does come up positive, you can be very confident you have Lyme.

I have not yet heard of someone with confirmed Lupus who tested false negative for Lyme. But I have heard of a lot of people whose Lyme Disease mimicked Lupus.  

False negatives on the IgG Western Blot are indeed possible, as there are 5 bands on the CDC protocol that aren't Lyme specific. If you show those exact 5 and you have other conditions triggering those bands, you could test false positive. But odds of that are really rare.

I mentioned Anaplasmosis and RMSF because they are more common tick borne diseases in your area.  It doesn't mean you couldn't have other ones like Bartonella or Babesia.  Bartonella is found worldwide so it's worth considering, too.

If there is an LLMD you can find in your area, I recommend you go to one for extended testing.  A doc who is familiar with tick borne diseases can better figure out what tests to run based on your symptoms.  Just know that many of these "coinfections" of Lyme can hide. Sometimes, symptoms of a coinfection don't show up until a month or three into Lyme treatment.

I wanted to avoid any hidden coinfections, so I did the whole coinfection panel. It found Bartonella, which I didn't expect.  But I still tested false negative on Babesia. I finally got a clinical diagnosis on that nearly a year later.  The Western Blot is the best test in the Lyme panel. It's the only one that showed a positive for me.

If you're not too worried about cost, go all out.  If you are, as most are, start with the Lyme panel and go from there.  Just my personal suggestion as a patient, not a doctor.

[Quidam19]

Your way of describing PCR made complete sense!! Wow. Thank you for making the concept so simple.

I'm going to do the panels (still not sure if I want to pay $215 more for PCR or not), but first I have to figure out getting the funds for it. At this time I simply don't have it.

I'm going to see if my rheumatologist will sign off on it and if he won't I'll go to my general physician. He's a family friend and I feel confident he will if I need him to.

In the meantime I suppose I'll keep tracking symptoms and try to work out a way to pay for the test kit.

Everyone here is SO helpful and I'll make sure to stay in touch. THANK YOU.

[ngageme]

I paid for my Igenex tests out of pocket and it was well worth it.

COMPLETE LYME PANEL**
Western Blot IgG, Western Blot IgM, Lyme IgG/IgM/IgA Screen (IFA)**, Lyme PCR- Serum,
Lyme PCR- Whole Blood

Cost: $475.00

COMPLETE CO-INFECTION PANEL
B. microti IgG & IgM, Babesia FISH, HME IgG & IgM, HGA IgG & IgM, Bartonella IgG & IgM

Cost: $660.00

[cave76]

As much as I dislike quoting Mayo on anything Lyme this is one of the few valid references I could find:

"Interpretation
A positive result indicates the presence of DNA from Borrelia burgdorferi, the agent of Lyme disease.

A negative result indicates the absence of detectable DNA from Borrelia burgdorferi in the specimen. Due to the diagnostic sensitivity limitations of the PCR assay, a negative result does not preclude the presence of the organism or active Lyme disease."

http://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/87973

(Most Google searches bring up how PCRs are done---- which probably isn't what you want. But they are interesting.)

After decades of Lyme advocacy I made my own simple to understand description of a PCR test. You can find it in my Journal at:
http://www.medhelp.org/user_journals/show/975330/PCR-tests-and-Fish-In-a-Pond

(There can be some exceptions, as always, because both science and Bb are constantly moving.)

[Quidam19]

I have done quite a bit of research, but I do know I'm scratching the surface still. I honestly don't know much about PCR tests. Do you know of any good resources where I can read more?

I have learned that much about Lyme at least, that nothing seems to be written in stone. >_<

[cave76]

I always found that Nick Harris was very willing to talk to patients----- that was a decade ago. Maybe he still is, if he's in his office. There's an 800 number to call. But his chief lab techs are also very good to talk to.

Since you've done a lot of research already-----I assume you know about the strengths and weaknesses of a PCR test. So that might help make your mind up about them. But if they're included in a panel---- well.

Serum is a clear-ish fluid leftover after blood is coagulated. Maybe after centrifuging also.
Whole blood is --- well, whole blood.

And something that I've learned over these many  years----  you were saying that you thought some things didn't fit the bill or that you didn't have certain symptoms. Nothing about Lyme is written in stone. Sorry, that's the sad truth. Give me a statement that states "thus and so" about Lyme and I betcha I can find several more that refute that. LOL

You're learning and you're doing a great job so far.

[Quidam19]

My rheumy did explain the 'mixed connective tissue disease' being something that really just meant all of my symptoms fit into a certain 'family', if you will, of autoimmune diseases without me properly testing positive for any of them. He said it was a diagnosis of exclusion. And, you know, maybe it's the correct one, but I want to chase down other options and rule them in or out too first.

My Borrelia was positive, not equivocal, and my Western Blot said negative on all bands tested by the local lab. I have seen some places mention that lupus can cause Borrelia to give a positive, but right now everything is so new to me all I can really do is document what I find and move forward with more questions.

IgeneX was FAST, holy cow. They've already emailed me how to order a kit and the price list. I have to say I'm confused by the tests offered though. I really don't know what I should be picking. There's a Complete Lyme Panel and a Basic one. Both offer Western Blot IgG and IgM as well as Lyme IgG/IgM/IgA Screen (IFA). The Complete one also offers Lyme PCR Serum and Whole Blood. Anyone have experience with the difference? Is PCR really that necessary for an initial test?

Then when it comes to the Co-infection Panels I'm lost even more. There's a core set of tests in all 4 options, but then there is the option to include Bartonella FISH and there is also a split between the tests on whether you want to test B. duncani IgG/IgM OR B. microti IgG/IgM. Again, does anyone have experience/insight into this? These are expensive... I want to know what I'd be ordering and what is worth it.

I'd never heard of Ehrlichiosis/Anaplasmosis so I looked it up. I'm not sure if that one is as likely a possibility as it seems to frequently include fever, chills, severe headaches, etc. But I'm glad you mentioned it. Always good to look into everything. Rocky Mountain doesn't quite fit the bill either, as I can also rule out most of those symptoms as well.

Thank you already to everyone for your insight and ideas. You are very helpful and make me feel slightly less crazy!

[Ricobord]

You sound very much like a case of Lyme.  The CDC testing is very controversial. The Western Blot interpretation was developed using New England based early Lyme patients with a bulls eye rash (so they were "positive" the patients actually had Lyme).  

It was designed for surveillance purposes (sampling, tracking trends) with the goal of minimal false positives. They didn't really care how many false negatives they had.  

It also excluded two very specific Lyme antibodies in order to avoid false positives from an up and coming Lyme vaccine they were sure everybody in the Northeast would get.

Well, the vaccine failed and then, they did something inexplicable. They decided to make the surveillance criteria a diagnostic requirement.  It makes no sense.  They completely ignore some Lyme specific antibodies.  

Also, the test was never validated outside New England on patients from other geographic regions with different genetic strains of the bacteria.  Stunningly, they now say that false negatives are rare and false positives are common.  But this is the exact opposite of the intent of the test and all the research data done on it!  (You can start to see why so many Lyme patients are so angry...)

Most labs use a single strain of bacteria from Shelter Island, NY, the favorite one for lab research.  But IGeneX adds in another wild strain, making it more likely to match up to a wide variety of strains and species.  

I encourage you to get a Western Blot at IGeneX. You do have to pay up front, but then submit a claim to your insurance. Because my GP authorized the IGeneX tests, my insurance reimbursed me about 2/3 of the cost of the testing.  You can get a price sheet from IGeneX, but you'll have to ask your insurance what they'll reimburse you.  

I'll tell you right now that it doesn't really matter. If you can't get diagnosed without it, your life is worth the cost. I think the Western Blot is around $250.  

In Oklahoma you may also want to get tested for Ehrlichiosis/Anaplasmosis and Rocky Mountain Spotted Fever.  Perhaps your doctor will run these two at the regular lab to save you the cost.  Ticks can carry and transmit multiple diseases at once, something many doctors are unaware. They don't often think to look for other tick borne infections.

I encourage you to contact IGeneX and ask for a test kit. Then go back and see your doctor.

In a nutshell, "mixed connective tissue disorder" (which is really just a description of symptoms with unknown cause, not the name of a known disease) does not explain all your symptoms.  Your are progressing consistently with disseminated Lyme.  If you really do have Lyme, which I suspect, you need to start treatment as soon as possible.  Time matters.  The longer you are sick, the harder it is to treat.)

I'm glad you're doing your research and that you're here!  I hope you'll keep up posted.

P.S.  Did your Western Blot result say what "bands" were positive?  If not, if it just says "negative", then call the lab and ask them to send you the detailed results, which includes the bands.

[Quidam19]

No worries! I'm from Oklahoma. =)

[cave76]

Oops, my mistake! Sorry---- I thought you were from the UK.

[Quidam19]

I've done lots of reading at ILADS, but I will check out Tom Grier. Thanks for the tip!

I've never heard of testing for UK/Euro strains. I'm curious why you suggested that?

[cave76]

Forgot to say---- I was always negative on the WB tests from Igenex. But I definitely have Lyme, proven by a positive PCR of spinal fluid.

You might want to start reading everything by Tom Grier. (Google his name) One of his articles explains why  a person can have a negative WB.
And also read at http://www.ilads.org/

[cave76]

To get an idea of the costs for Igenex to to:
http://www.igenex.com/Website/

The patient can file for insurance themselves. I did it all the time and didn't have to 'attempt' it. (grin)

However, all insurance companies are different so I can't speak to yours.

I don't know the ins and outs of the Igenex testing for strains that are in the UK. I believe that if you write Igenex they will be more than happy to tell you if they test for UK/Euro strains or not. I do know that many people  in the UK DO send their blood work there.

[Quidam19]

I have a question on IgeneX lab. I have done a bit of research on them and know that they don't file for insurance (though the patient can attempt to do so themselves).

Do you (or anyone else) happen to know a ballpark for what those panels cost, assuming no insurance? I figure I'll talk to my doctor about testing there and see if he will, but financially I need to sort it out as well.

[mojogal]

Hi, I am sorry you have to be going through this. I was misdiagnosed with MS, Lupus, Hoshimotos and many more illness however they usually give you steroids for those illnesses and they will make you feel worse if you have Lyme and Co-infections. According to Dr Richard Horowitz that recently wrote the book " why can't I get better", Lyme is the great pretender and mimics many other illnesses. I was positive for Lupus yet I didn't have it.

I am glad you mentioned IgeneX lab. They are the only ones where you will get a positive result. You should take the Lyme panel which includes a western blot as well as a co-infection panel. For me the co-infection Bartonella is worse than the lyme itself.

Your next step, if positive, would be to find an LLMD which you can google or contact ILADS and ask them for an LLMD near you.

I wish you luck. I am sure you have more questions, we are here for you.