Discussions By Condition: I cannot get a diagnosis.

Still frustrated. suggestions????

Posted In: I cannot get a diagnosis. 9 Replies
  • Posted By: frustrated9967
  • October 4, 2008
  • 03:12 PM

Well I am a 41 year old married female with 3 teenage daughters. I have been suffering for almost 3 years now. I have had every blood test done known to mankind including non commercial genetic tests. I have had MRI, cat scans, nuclear scans, pft, echo cardiograms, stress tests, and have had no conclusive results.

My Rheumy says I have Anti Synthetase Syndrome with over lapping scleroderma, Polymyositis, dermatomyositis, myositis, ILD, chronic polyarthritis, and Raynard's.

Meds I am currently on. Methotrexate .9ml injections weekly, Plaquenil 200mg twice a day, Medrol (steriod) 8mg in am and 4mg at night, folic acid 1mg daily, liposin (blood pressure med) 5mg daily, inhalers, home oxygen 3.5 liters.

Here is a list of my symptoms:

1. severe fatigue
2. severe muscle and joint pain
3. swollen muscles and joints
4. mechanics hands (rough thick skin on knuckles and palms) elbows,knees and feet.
5. muscle weakness
6. shortness of breathe and cough
7. eyes get extremely red and almost like a blister over my eyes off and on, when eyes flare very painful and sore and dry.
8 GERG
9. IBS
10. High protein in urine
11. photosensitive. when in sun or heat develop red, raised blotches that burn and itch.

The meds I am taking started out working on some of the symptoms, but now seems to be wearing off injection only seems to work for 2 days now and not as well with the swelling and pain. Doctor wants to do a EMG on Monday morning and possibly switch me to cytoxan or IVIG treatment.

Its very frustrating getting all the tests done with nothing coming back positive other then severely bad PFT (pulmonary function test) and being put on all this toxic medicine without a conclusive diagnosis.

Any suggestions on this and what it might be would be very helpful.

Thank you
Terri

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9 Replies:

  • Well, the clinical picture here has clear association with antisynthetase syndrome and I'm assuming that Aminoacyl tRNA serum autoantibodies have been confirmed in laboratory studies. If not, then the studies definitely need to be performed as these particular antibodies are the hallmark characteristic of antisynthetase syndrome, particularly Jo-1 but PL-7 and PL12 are also seen to a lesser extent. While not universal,these autoantibody assays are critical to confirming antisynthetase syndrome. Also, with regard to your respiratory involvement, cyclophosphamide IV has been shown to be very effective in cases where symptoms are extensive. You will likely experience some benefit from IVIG treatment, particularly with respect to the dermatomyositis/myositis, and in some cases even reduction in the underlying immune problem. If you're asking whether this is something else altogether, I'm of the opinion that antisynthetase syndrome would be the most likely problem, but again the lab studies mentioned above definitely need to be performed if not already completed. Best regards, J Cottle, MD
    JCottleMD 580 Replies
    • October 4, 2008
    • 04:15 PM
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  • J Cottle Thank you for your reply. I had alot of blood taken at UPMC that were tests for the antisythetase syndrome, alot of them they said here non commercial test and would take several weeks to a couple months to get results back. That was back in April, and I can not get anyone to call me back with the results. They did however, call me within 2 weeks with the results of the JO-1 and that test was negative, but they were waiting for the other results to come in. I would assume that they ran the tests you spoke of, I just have not been able to get anyone there to call me back with the results. Just frustrated with being put on so much medicine without a confirmed diagnosis. Terri
    frustrated9967 12 Replies
    • October 4, 2008
    • 08:34 PM
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  • I certainly understand your frustration and some of these specialized labs have to be hounded almost daily until they yield. It's certainly within your rights to have the test results and you can contact the administration to start pushing buttons until you get results. Your insurance provider can also help here because in most cases, it's their dollar. It's not been uncommon to have to bird-dog these high-profile labs to get the full lab results requested. The Jo-1 is the most common, but a negative lab value does not exclude antisynthetase syndrome. You need to have the full panel performed. Keep me posted on your test results and how you're progressing. Best regards, J Cottle, MD
    JCottleMD 580 Replies
    • October 4, 2008
    • 09:03 PM
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  • J Cottle I will continue to hound them for my results. I know most people want all their tests to come back negative, but for me I would love to have something, anything come back so I know exactly what I have. Some doctors I have seen have told me that just because the tests come back negative does not mean I don't have it. That sometimes it is only symptomatic and blood tests will come back negative. I am also concerned about being on steroids for almost 3 years now. I already have kidney problems and fear I will end up with bone damage as well. I would like to keep hope of getting my life back. Being only 41 and unable to work or function normally is depressing in itself. The doctor has started me on cembalta, which she said will help with depression and chronic pain. I start that medicine on Monday. Thank you again for replying so quickly and throughly. Terri
    frustrated9967 12 Replies
    • October 4, 2008
    • 11:08 PM
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  • J Cottle I will continue to hound them for my results. I know most people want all their tests to come back negative, but for me I would love to have something, anything come back so I know exactly what I have. Some doctors I have seen have told me that just because the tests come back negative does not mean I don't have it. That sometimes it is only symptomatic and blood tests will come back negative. I am also concerned about being on steroids for almost 3 years now. I already have kidney problems and fear I will end up with bone damage as well. I would like to keep hope of getting my life back. Being only 41 and unable to work or function normally is depressing in itself. The doctor has started me on cembalta, which she said will help with depression and chronic pain. I start that medicine on Monday. Thank you again for replying so quickly and throughly. Terri Should I be concerned about being on steroids for almost 3 years now? I have been on 8mg in the morning and 4mg in the evening. Thank you
    frustrated9967 12 Replies
    • October 6, 2008
    • 03:49 AM
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  • Ok, so yesterday I had my EMG of the entire right side of my body and a few tests on the left. The results show the onset of mild myotosis, carpel tunnel in both hands, which I have had for several years, and degenerative discs in neck and upper back, which I have known for several years as well. This seems to confirm even more the anti-sythetase syndrome. My question is this, Since the EMG it seems that my symptoms of muscle weakness and pain has increased 10 fold, I have constant muscle twitching where the needles where place in muscle. Even on my left side where they did not test is being effected as well. Could this test have triggered a progression of this disease? Is this normal after having EMG and how long before it goes away??? I had this test a few years back and don't remember going through this last time. Thank youTerri
    frustrated9967 12 Replies
    • October 7, 2008
    • 11:33 AM
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  • I would seriously look into Methrotrexate and it's effects. I know personally 3 people and heard of several others that the drug almost killed and did permanent damage to one being my Mom. There is a class action suit involving this drug. The U.S. is one of the only countries that even use the drug, countries that pay for health care won't allow it because of the things it does.Some of the things it does can mimick the disease (RA) it can turn lungs fibrous and or crystalize the lungs.It turned my Moms lungs fibrous she has less that 50% capacity in her lungs and it has been irreversible. She only oxygenates in the 60's to 70's without oxygen and mid 80's with.Please do research in what you are taking it has been hard to watch my Mom and others that I know deal with what they have been left with in regards to the medication.
    Anonymous 42789 Replies
    • October 22, 2008
    • 09:14 AM
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  • EMG testing will not exacerbate the disease and it is all too common for patients to experience both pain and fasciculations for several days following the procedure. The symptoms will indeed pass. Incidentally, I saw your notification to my personal inbox but am constrained to point out that I will likely not be posting much further on this particular forum and will alternatively be posting within a physician-based forum. If you wish to forward an email address, I will provide you with the link. The forum here is unfortunately inundated with persons attempting to practice medicine in the clear absence of any licensure, training or experience and I find it to be both reckless and irresponsible. Best regards, J Cottle, MD
    JCottleMD 580 Replies
    • December 2, 2008
    • 01:46 AM
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  • I completely agree with 2z's comments on methotrexate - a very nasty drug with a host of side effects including liver and kidney failure. Add your steroids and placquenil to the mix and it is no wonder you are feeling so bad! Of course, allopathic medicine doesn't have many other options to treat the condition you describe. And I certainly don't recommend just stopping medications! I would like to suggest finding an alternative approach to treating your symptoms. Acupuncture and traditional Chinese Medicine have been used for over 3,000 years to help treat disorders of ALL kinds. Please consider this form of medicine, combined with your allopathic medicine of course. I think it would help you immensely! I have treated patients with autoimmune dysfunctions like scleroderma, lupus, RA, and others. Acupuncture helps with their pain, sleep, mood/emotions, digestion, and more. www.acufinder.com and www.nccaom.org are two good websites to learn about the benefits of acupuncture. Best wishesDOM
    acuann 3080 Replies
    • December 2, 2008
    • 03:03 AM
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