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Another Negative Test Scores Story

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#1 Muse

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Posted 14 October 2014 - 09:20 AM

Hello everyone,

I am new to the forum and, like a lot of you, am having difficulty getting a diagnosis.

 

I will try not to be long-winded, so in brief:

 

~ Diagnosed with lupus in 1991, via a COOMBS test

 

~ Besides joint pain, malaise, Raynaud's, and the occasional malar rash, pretty much asymptomatic for 20 years.

 

~ In 2011, developed dry eyes and mouth, doctor suspected Sjogren's and wanted me to see a rheumatologist.

 

~ Rheumatologist said I tested negative "for everything" except a very low titer, speckled, which he said could mean mixed connective tissue disease but it wasn't because I "didn't look like" I had scleroderma. He tried to get me in a fibromyalgia study and would not test further for anything else.

 

~ Rheumatologist later was found to diagnose fibromyalgia no matter what, just to get study participants - my doctor will no longer refer patients to him.

 

~ Primary doctor unable to find another rheumatologist in this area who takes Medicare, so we both decided to take a "wait and see" approach.

 

~ A year ago I went back to my doctor for my annual, and he had another doctor in for him due to illness, and this doctor examined my hands and asked me had I noticed they were shiny and that the skin was tight?  Which, honestly I hadn't, having never thought to look.  Didn't follow up on it because I wasn't really feeling ill but I did start to pay more attention to my hands after that. Only other symptom which may or may not be related is my blood pressure was spiking to 200/100 over several months, and I couldn't get it under control with diet so doctor prescribed an ACE inhibitor.

 

~ 6 months ago I got fairly ill with low-grade fever most nights, joint pain and malaise worse than usual, and some facial changes such as lips disappearing and mouth seemingly getting smaller, fingers go from no wrinkles to severely wrinkled at random times, hurts to type I think b/c I am losing padding on my fingertips, still have sicca, and I was losing weight at the rate of 1 pound/day without dieting.  Went to doctor, who said my hands had inflammation but he was pretty sure it wasn't RA (no deformity like that, I guess).  He ordered a LOT of tests.

 

~ Nearly all tests came back negative, except for an elevated ESR, high basophils, and low a/g ratio.  All antibody tests were negative, including SSA, SSB, Sm, RNP, SCL-70, Jo-1, Centromere B, dsDNA, and Histone.  ANA antibody with reflex was 42 (negative). Anti-DNA Ab, Double stranded was <1 (negative).  Urinalysis was normal.  RBC/WBC both normal.  And so on.

 

~ I have an appointment to see a rheumatologist in a nearby town next month.  She has interned at Johns Hopkins so she seems like she knows her stuff.  She did research at Stanford on how certain cells interact and cause inflammation.  I have confidence in her but in the meantime I still feel really ill.

 

I've been really ill since April.  I don't understand why all the tests came back negative.   I would have bet that at least ONE would have indicated something autoimmune, but no.  At the bottom of the test it said, "The possibility of autoimmune disease remains", so I guess someone saw something somewhere - darned if I know.

 

Any thoughts?



#2 Kathy D

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Posted 14 October 2014 - 06:49 PM

Hi Muse,

 

Sorry you are sick.  I heard malar rash is pretty specific to lupus. I also know someone that has diffuse scleroderma but tests "sine", or negative.  The wait for me to get into a rheumy was a hard time for me, I hope you pass the time quickly :)


Diffuse Scleroderma Diagnosed March 2009

#3 Muse

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Posted 15 October 2014 - 05:50 AM

Thank you for your kind words, Kathy!



#4 Joelf

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Posted 15 October 2014 - 10:06 AM

Hi Muse,

 

Welcome to these forums!

 

I'm sorry to hear that you're suffering with so many unpleasant symptoms; sadly, autoimmune diseases such as Scleroderma are extremely complex and difficult to diagnose, not least because they present so many different symptoms which vary so much from person to person. I'm afraid it is perfectly possible to have the full blown disease and yet for all the blood work to be negative, as Amanda and many of our other members can testify. The reverse is also true.

 

Your rheumatologist will probably need to make further tests to help with a diagnosis, which really should be made on the clinical signs and symptoms so that a complete picture can be seen. Hopefully, the rheumatologist with whom you have an appointment is experienced at dealing with Scleroderma; we do recommend that our members, if possible, consult a Scleroderma expert, as this complex disease does require a rheumatologist with specialist knowledge.

 

Kind regards,


Jo Frowde
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#5 Muse

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Posted 15 October 2014 - 12:29 PM

Thank you, Joelf.   You know, you would think "they" (researchers, I guess) would come up with some more definitive tests - I hope that happens so that none of us has to have that awful "glad it's not this but what is it?" feeling that comes with being sick and negative test results.

 

I will look at your list of experts...thank you for that link!



#6 Amanda Thorpe

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Posted 15 October 2014 - 01:05 PM

Hello Muse

 

There's a lot of this going around at the moment...

 

I feel confident that Johns Hopkins will sort out your diagnosis despite the lack of blood work suggestive of anything much. A bit like mine really, I have negative ANA & SCL-70, normal rheumatoid factor, in fact I have been hard pressed to have any abnormality in 7 years despite having diffuse scleroderma with heart involvement. Oh, well!

 

Please see our videos diagnosis of scleroderma, difficult diagnosis in scleroderma and symptoms of scleroderma. Diagnosis is made on the basis of medical history and physical exam with blood tests being used to support diagnosis or lack of, as well as helping to categorise the type of scleroderma. Biopsy can also help confirm the diagnosis and type of scleroderma. 

 

This disease is so complex and varied, frequently refusing to fit in any box which means there's no clear cut test for diagnosing the disease and putting those of us with it outta our diagnostic misery!

 

Take care.


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#7 Muse

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Posted 15 October 2014 - 02:26 PM

Hi Amanda,

 

Thank you for those links - I will certainly follow up.

 

Just seems so strange to me to have something autoimmune that doesn't make antibodies that people can detect.  I would assume there are antibodies involved, otherwise why would I feel so ill?  It's odd.

 

I guess the key is to not give up until someone figures out what's wrong so they can treat it.



#8 Amanda Thorpe

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Posted 16 October 2014 - 07:53 AM

Muse, you hit the nail on the head, you can't give up until you get answers, as suggested by our difficult diagnosis resources this can actually take years. Years, as in 6 for women and 3 for men.

 

I have long since given up on expecting how I feel to be reflected in my blood tests, even when my life expectancy was 2 years from serious heart failure, they couldn't cooperate and line up. People have come onto the forums to share their symptoms, confused by a lack of diagnosis, their symptoms, blatantly scleroderma (as in I, a non medical layperson think they are), fail to achieve diagnosis just because the person has negative blood work.The blood work issue is one reason why it's so important people are treated by a scleroderma expert as they are well aware of this issue.

 

Take care.


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#9 Muse

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Posted 17 November 2014 - 03:01 PM

Hi all,

 

Last time I posted I think I stated my tests were negative - all of them except the sed rate, basically,

 

Well, I saw the rheumatologist today and she said I didn't have an autoimmune disease of any kind.  The dry mouth, dry eyes, hair loss were all 'due to age'. 

 

The rapid weight loss and low-grade fever were "maybe due to cancer".  So she told me to go back to my primary care physician and get more tests.  She also said the low-grade fever could "just be your new set point" (no, my 'normal' temp is 97.8, not 100.6).

 

She didn't see the skin changes the other doctors did, though to be fair, I wasn't having one of my tight skin/swollen fingers days (no, my fingers decided to swell up after I got home).  She didn't believe me when I told her I noticed my mouth had shrunk.  She told me "to be glad" I don't have wrinkles at 58.

 

My knees that were so creaky last night when I was mopping the floor were suddenly silent in her exam room.  She didn't find crepitis anywhere even though my primary care physician did, and even though I could feel the grinding when she moved my shoulder.  She found no inflammation in my fingers even though my primary care physician and his intern did.

 

She told me I have Primary Raynaud's but my fingers "were ok" (not ulcerated) so she didn't have any other advice for me except to keep on doing what I have always been doing (wearing gloves etc).  She told me my capillaries were fine.  I guess she could see those without a microscope?

 

As soon as I got home I started to run another fever.  Honestly, I feel so awful.

 

She has done a lot of research in autoimmune diseases, and even wrote a couple of papers on it.  She studied at Johns Hopkins. I guess I ought to believe her.  She seemed annoyed that my primary care physician sent me to her, and got angry when I told her my last exam revealed I have dry eye ("Was it an opthamologist? Did he tell you your score? Or was it just some optometrist who sells glasses??" she demanded).  She told me I most definitely do NOT have Sjogren's.

 

Basically she told me she based her ideas on the test results and her physical exam.  She said there "possibly could be someone walking around with an autoimmune disease with negative test results, but that's really unlikely, especially when there are no indications from the exam."  She told me my lupus test result 30 years ago was probably a false positive, especially as it was a COOMBS test.

 

I will get the cancer tests she suggested - mammogram and pap, though I get those every year anyway.  Other than that, I guess I...what?  Wait until I get really sick and have to go to the hospital?  Will anyone believe me then that I'm sick...with something?

 

Sorry for the length but I just don't know what to think.  The rheumatologist is well-respected around here.



#10 Joelf

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Posted 30 November 2014 - 05:30 AM

Hi Muse,

 

I apologise for the delay in replying to you. :sorry:

 

I can understand how upset and frustrated you are feeling by your rheumatologist's rather patronising attitude, particularly when you're not feeling very well and it's rather disappointing when you were hoping for more help and advice. Whereas she undoubtedly is well respected, knows her stuff and the advice she gave you may be absolutely correct, nevertheless, it does sound as if her remarks were rather insensitive, to say the least.

 

Unfortunately, Scleroderma is such a difficult disease to diagnose at the best of times and it's absolutely typical that the symptoms that you find so upsetting have a habit of disappearing the minute you get into the rheumatologist's room (rather like a car with an intermittent fault, that performs perfectly when taken to a garage for repairs!! ;) :lol: )

 

I think in your situation, I would go back to my primary doctor and insist that the symptoms that you're displaying are not figments of your imagination and that you wish to have a second opinion with another rheumatologist. I'm in the UK, where the health system is different to the US, but I have found that it's very necessary to be extremely proactive with every aspect of my health care.

 

Kind regards,


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#11 Shelley Ensz

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Posted 30 November 2014 - 12:05 PM

Hi Muse,

 

I'm sorry as I know you are in a difficult position right now. It is very hard to know you are sick but not yet know for certain what is causing it.

 

Please keep in mind that I am not a doctor and have no medical training at all, and verify everything I say with a reliable medical source. As it happens, to the best of my knowledge, fever is *not* a listed symptom of systemic scleroderma nor any part of the diagnostic criteria. So it could be a red flag that something else is going on, either cancer or an infectious disease. Sure, you might also have an autoimmune-something-or-other but the most pressing matter is to find the cause of your chronic fever.

 

You do need to reconnect with your primary care doctor right away, and get cancer screening as well as perhaps infectious disease screening. It is *not* okay to lay up the fever to a set point change unless or until all other possible causes of it are firmly ruled out. Period. I don't buy it and neither should you, unless or until your doctors have eliminated all other possible causes. There is a range of other illnesses and infections that can imitate scleroderma and other autoimmune diseases, including extra pulmonary tuberculosis, lyme disease, etc.

 

Please start getting screened asap, and let us know how your tests go.  It would be great to catch whatever-it-is and put a stop to it.  Then if that is handled and there are any symptoms left over, you can look into the autoimmune angle some more. But autoimmune is likely to be very slow moving whereas cancers and infection can be more serious and imminently life-threatening.

 

:emoticons-group-hug:


Warm Hugs,

Shelley Ensz
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#12 Amanda Thorpe

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Posted 30 November 2014 - 11:47 PM

Hello Muse

 

How unbelievable! Oh, no wait it's entirety believable sadly, what damage can be done with the changing of a diagnosis! I wonder if doctors have any idea?

 

Shelley's quite right about the fever issue and that you need to check the other possibilities. She's also right about having to persevere with the diagnostic obstacle course. I don't know what it will eventually be but I do know that you're worth a correct one.

 

Take care and keep posting.


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