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Results From My Second Opinion Are In-i Don't Know What To Think


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#1 Laura

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Posted 04 December 2006 - 09:41 AM

I don't know where to begin with this, it's so upsetting. I was diagnosed with MCTD in April with a positive anti RNP and many symptoms. I have been treated with plaquenil, and methotrexate. I called the new rheumatologist for my lab results. The secretary read me a letter he wrote me. He stated all my labs were normal or slightly off but not enough to indicate that I have any MCTD, RA, lupus, or scleroderma. My vitamin D level is low and he said that can cause muscle and bone pain. I'm seeing a pulmonologist tomorrow because my DLCO is declining. My first rheumatologist thought this was related to the MCTD, but if I don't have that then what do I have????? I hope I don't offend anyone by saying this, but when I got diagnosed it was a relief to be able to put a name to something that has affected my life so much. I was really starting to feel crazy, I don't want to feel that way again.

Thanks,

Laura

#2 Steve

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Posted 04 December 2006 - 10:16 AM

Hi Laura. You must be very frustrated not to have a positive diagnosis yet. Don't worry about offending anyone here about wanting a diagnosis. we all know how we feel, but it is actually comforting to know that there is a name for what we are going through, and it isn't just 'in our heads'.
Try to be patient though, because stress can trigger your symptoms into flare sometimes.
Tell your next specialist how you feel, and maybe he could reassure you that you do have something real going on, but haven't had the one test that may pinpoint it yet.
Good luck, and please keep us posted.
Take Care,

Steve Dickson
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#3 Heidi

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Posted 04 December 2006 - 11:04 AM

Hi Laura,

I am sorry you are in such a frustrating position! I can empathize as my GI tests almost always come back normal and yet it is so obvious something is going on! In fact, my rheumatologist even voiced that frustration by saying, "Wow, it must be frustrating to have these tests keep coming back negative when it is obvious something is going on!". I certainly would hope that your doctor would go beyond the blood tests and rely on clinical symptoms as well for a diagnosis. Did you go to this second doctor for a second opinion only? Did something with your first doctor prompt you to move on? Unfortunately as you are getting to experience first hand, doctors often don't agree on a diagnosis with these diseases (or on treatment)!.

Are there any plans in the works for you to go back to this rheumatologist? If so, I would express my frustration to him and ask if it is possible for you to have MCTD but the blood work not show it..AND I would focus on treatment not diagnosis! Do you feel like the Plaquenil and Methotrexate were/are working?

Please let us know how your visit with the pulmonologist goes tomorrow.

Warm wishes,
Heidi

#4 whirlway

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Posted 04 December 2006 - 11:44 AM

Laura, it can be very frustrating not having a diagnosis. It took over 5 years before anyone would even utter the word lupus for me. For some reason doctors don't like to give a label of lupus or sclero, or mctd, or fibro, etc, etc, etc. Don't worry, you are not crazy! Are the meds helping? If not, maybe it is time to seek another opinion. I went to many different doctors in 3 different cities, clear across the state of Washington and back for over 5 years before I finally found someone who would believe me. Don't give up! Most of us have been in your shoes so you are not offending us. We are here to support you.
Take care.
~whirlway


#5 LisaBulman

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Posted 04 December 2006 - 11:56 AM

Hi Laura,
I am so sorry that you are in the middle right now. It must be so frustrating to be in limbo and believe me many of us here have been in that position. You may need to see yet another doctor and have more tests done but someone will get to the bottom of it all. Try to keep your chin up!

We are all here to support you and we don't think you are crazy.

Hugs,
Lisa
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#6 janey

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Posted 04 December 2006 - 12:25 PM

Laura Darling,
Your frustration is quite understandable. Knowing the cause of all your symptoms is important, because only then can you start to identify what to do to solve the problems you are having. So no offense taken. I find it interesting that the rheumatologist made your diagnosis, or lack there of, based strictly on test results. My diagnosis was made on a positive ANA and physical symptoms. Once the diagnosis was made, THEN the rheumatologist started to run the various tests to determine involvements and establish baselines. The other day my pulmonary doctor ran some bloodwork and one was the scl-70 antibody (specific to scleroderma). It came back normal, but it doesn't mean a thing. Both my rheumatologist and pulmonologist know that I have scleroderma.

I agree with Lisa that you probably should see yet another rheumatologist. Did you take in your list of symptoms (in written form)? I can't stress how important that is. Do you feel like you can have an open discussion with your pulmonologist? If so, please take the opportunity to express your frustration of not knowing. Hopefully, he can make a recommendation. Let us know what happens.

Big Hugs,
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#7 scleroguy

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Posted 04 December 2006 - 12:26 PM

Hi Laura,

I am so sorry that you have to experience this. Please do not feel crazy, this has happened to many of us to varing degrees. I also have MCTD, and my doctors had me starting to believe that I was depressed or crazy until my anti RNP came back positive. That was enough, along with my symptoms, to get my diagnosis. I completely understand the odd feeling of being happy(or relieved) to get a diagnosis of something so bad. :) :o :unsure: :(

According to one of the makers of the Anti-RNP Test Kit:

"RNP antibodies are ENA (extractable nuclear antigen) antibodies, present with high frequency in the sera of patients with collagen diseases such as SLE (30 - 40%) and mixed connective tissue disease (MCTD) (95 - 100%). Mixed connective tissue disease is a clinical disease combining features of SLE, Progressive Systemic
Sclerosis (PSS) and Polymyositis/Dermatomyositis (PM/DM). The presence of RNP antibodies in the sera of patients is essential for diagnosis of MCTD. RNP antibodies, when present alone at high levels, are diagnostic of MCTD. Lower levels of anti-RNP, in conjunction with other autoantibodies may be observed in PSS, Sjögren’s Syndrome (SS) and Rheumatoid Arthritis (RA)."

Do you know if the new doctor also did an anti RNP test and if the the lab results were the same? Also, do you know if there is a reason that your new doctor wrote you a letter instead of talking to you?

Best wishes,
Ron

Updated 8/10/07: Mixed Connective Tissue Disease (dx 03/2002). Diffuse Scleroderma, Dermatomyositis.

#8 GocartMoz

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Posted 04 December 2006 - 02:42 PM

Laura,

I share your frustration from a completely different perspective. I have consistently had negative ANA tests, yet every dr. I have seen has diagnosed diffuse scleroderma. I have now seen 3 expert rheumatologists in the field, in addition to my local rheumatologist. I didn't want to believe the diagnosis because of the negative tests. I was in denial. How could I have the disease if I had a negative blood test? After 3 experts confirmed the diagnosis, however, I finally accepted it. The point is, good dr.'s don't make a diagnosis based upon tests alone. I have been told by all the physicians I have seen, whom I regard highly, that the most important aspect of diagnosing connective tissue disorders and auto immune diseases is the clinical presentation. As it is, I just happen to be of an extremely small minority of people who have this disease and have a negative ANA.

Don't let this Dr. make you believe you are nuts. You are anything but. Everyone on this board knows these symptoms are real and are not in our heads. The problem is finding the right dr. I have been lucky to have dr.'s that have been compassionate and understand the importance of clinical presentations. Finding the right dr. is incredibly important and it sounds like this dr. isn't the right one. Keep searching until you find one and focus on treatment and getting better.

Dave

#9 Guest_Sherrill_*

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Posted 04 December 2006 - 03:16 PM

Hi Laura, and others who have replied,

I found a new link which is now also on the ISN website at: http://www.sclero.or...to-z.html#about

It is from the ACR website, and is a patient education about scleroderma. You will find it at:
http://www.rheumatol...s/scler_new.asp

The part entitled "How scleroderma is diagnosed" is very interesting. It says in part:

Laboratory tests and x-rays may help in evaluating a patient with suspected scleroderma or find that someone actually has another disease, but no one test makes the diagnosis certain. For instance, blood tests for autoantibodies are often used in making the diagnosis, but the presence or absence of these antibodies is not, in and of itself, conclusive.

#10 Laura

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Posted 04 December 2006 - 04:20 PM

Hello everyone,

First of all thank you for the support. It means so much to hear from people who understand how I feel. I went to see this scleroderma expert at a large hospital because my rheumatologist here wanted to make sure he wasn't misssing anything since I was still getting increased symptoms even on the meds. He is an excellent doctor. He wasn't afraid to say I need help here. He felt my MCTD may be developing into more scleroderma since my finger are still getting thick and are tight and crack all the time. Plus I'm starting to have trouble swallowing, things just don't want to go down.

What is crazy to me is that this specialist told me my fingers have thick skin and my forearms are so tight it feels like someone is grabbing me. He noted the tightness on the forearms too. He said my feet are thick also. He looked at my nailbeds under the microscope and said I had a few dilated loops on several fingers, but no drop offs so that could be normal. He even told me you can't make a diagnosis on labs alone, but that he would wait for the labs to come back before he told me what he thought.



I talked to my rheumatologist here in town tonight. I told him what is going on. He said the finger and feet thickness and forearm tightness, trouble swallowing are all the things he is concerned about. He told me there is definetly something going on with me and to not get discouraged. He said sometimes it takes time for the full picture to become clear. I'm going to stay on my treatment now and see how my PFT's are tomorrow.

I'm going to be at the hospital where that specialist is tomorrow. I'm going to try and talk to the doctor and see if he can explain just what he thinks my symptoms are. If I don't see him I will call him.

I will let you guys know how things go with the pulmonary doctor tomorrow. Thanks for the support.

#11 americanmike

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Posted 05 December 2006 - 05:40 AM

Hi Laura--

You've found a great place. Welcome. You can get facts, data, info, love, understanding, humor, references, and anything else you might image here.
Everyone is so eager to help because we all know how it is.

Your gonna have to find a Dr. who understands autoimmune diseases and the fact that they present in many different ways. Many Dr.'s and even Rheumatologists are deficient in this regard. Don't get discouraged! The key is to find a doctor who is intelligent and open minded.

Michael in Florida

#12 Sweet

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Posted 05 December 2006 - 09:06 AM

Hi Laura,

The unknown can sure be baffling and frustration huh? I'm real sorry you are hanging out there in limbo. It's perfectly normal to want a definitive answer for your symptoms. Frankly, those of us that do have a diagnosis still at times are unsure if any given symptom is related to the disease or not. When I see my rheumatologist, he'll throw out the words "Lupus", "CREST", "Sjogrens" and I'll catch that and say, "Are you saying this is due to Lupus" and he'll admit it's hard to really nail it down. So not only are we confused as patients, the doctors aren't always clear on it either.

I really respect your rheumatologist for being sure enough about himself to refer you to another doctor for a second opinion. That says a lot about your rheumatologist. Sometimes healthcare providers are into the "I know it all thing" and pride gets in the way of treating the patient. He sounds like a keeper!

I’ll look forward to hearing about your conversation that took place today with the specialist.

Hang in there girl, your among people who care about you here!

Warm and gentle hugs,

Pamela
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#13 susie54

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Posted 06 December 2006 - 03:19 AM

Hi Laura,

Your frustration is so like mine. I had a SM-RNP of very high twice and still my doctor won't commit to any one diagnosis. I think the problem comes in the fact that doctors don't recognize or completely understand mixed connective tissue disease. I know what I have experienced, symptoms of lupus, sclero and sjorgren's. I was also diagnosed with MS which now they don't know if it related to the MCTD or not. Maybe the reason we have trouble getting diagnosed is that we jump around from one to another. I feel I do. But I have found and had to work to find doctors who respect me and treat my symptoms. I hope you can find a doctor who takes you seriously and treats your symptoms. Susie54

#14 nan

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Posted 06 December 2006 - 03:14 PM

Laura,
I am so sorry that you are going through all of that. I was diagnosed in 1998 with Fibromyalgia, Sjogren's Syndrome, and Raynaud's. In 2004 I had a major GI bleed and was diagnosed with Gastric Antral Vascular Ectasia( watermelon stomach) which is associated mainly with Scleroderma. Last winter I had an esophageal yeast infection and I have horrible times swallowing. When I had blood tested in 2003 I was positive for Sjogren's. When I had bloodwork done in February 2006 it was within normal limits for everything. I always thought that once you had an autoimmune disease you never got rid of it. Most recently I had a lip biopsy that was negative. My new rheumatologist told me in February, 2006 that he thought I had an overlap with Scleroderma. In May when I went to see him he said that he thought I had Scleroderma sine scleroderma and not Sjogren's. He said that it was possible to have that without positive bloodwork. He said that watermelon stomach and Raynaud's go with scleroderma, but I do't have skin manifestations. When I went back to him in July with my husband to discuss Scleroderma he said that he didn't say that. He said I had Sjogren's only. Of course, I had the office notes and he had said that. He said that the only way I could get a definite diagnosis was to go to Cleveland Clinic or Johns Hopkins. I thought I was losing my mind. I am trying to get into Johns Hopkins now. I called in August, but I had to wait until I could get the lip biopsy to go. I don't like the fact that I probably do have Scleroderma , but at least I have validation as to why I feel horrible. When a doctor tells me all of my tests are negative and it doesn't really matter what you have because you just treat the symptons I get really angry. I think all of us have a right to know what our diagnosis is. Take care of yourself!
Nan

#15 Sweet

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Posted 06 December 2006 - 04:52 PM

Hi Nan,

I want to welcome you to our group! I'm sure sorry it's because you have Scleroderma. The 'runaround' can be perplexing that is for sure. My rheumatologist does put value in testing, but he states the symptoms play a much larger role in the picture for him.

I'm sure glad you posted and we look forward to hearing from you more often.

Warm and gentle hugs,

Pamela
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International Scleroderma Network (ISN)

#16 Laura

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Posted 07 December 2006 - 01:51 PM

Hello everyone,

Again, thank you to everyone who responded. I saw the pulmonary doctor at the Cleveland Clinic Tuesday. My PFT's were much better than any of my recent. My DLCO has recevered completely. I went from a steady decline of 92% to 83% to 81% up to 93%. The pulmonary doctor said it could be the methotrexate and plaquenil helping to control the MCTD. He also said I mat have had a lung infection that caused the decline. When I asked how I could have a lung infection for 17 months ( the period it took for my PFT's to decline) with no signs of infection, no icreased WBC, no sputum, no fever he then said an infection wasn't likely.

I will meet with my rheumatologist here in town next week to see what he has to say. He already told me if the DLCO increases then treatment is helping. I feel lucky to have him in my corner.

I did stop by and see the specialist before we left the hospital Tuesday. He told me that my ANA was negative so there is no way I can have any autoimmune stuff and I should be happy. He was so arrogant, but this time thanks to everyone's advice here I let it go in one ear and out the other.

Thank you so much for the support.

Laura

#17 Heidi

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Posted 07 December 2006 - 02:24 PM

Hi Laura,

That is great news about your PFT numbers! It certainly seems like your treatment is working! Yippee!

Wow! The rheumatologist who gave you the second opinion and who told you today that there is no way you could have an autoimmune disease without a positive ANA certainly does seem arrogant. We have had so many discussions on this board about ANA and how for some it has gone from positive to negative over time and others who have never had a positive ANA and yet clearly have the disease. From my reading, it is certainly NOT foolproof!!! I am glad you were able to let his comment go in one ear and out the other and you have another rheumatologist that you feel is in your corner.

Please do keep us posted.

Warm wishes,
Heidi

#18 janey

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Posted 07 December 2006 - 05:14 PM

Laura,
Thanks for letting us know the results of your test and the outcome of your appointment. Congratulations on your dlco going back to normal. That's fantastic!

I agree with Heidi - To make a diagnosis strictly on a negative ANA is rather lame. The ANA is an indicator, not a diagnosis. A negative ANA does not rule out autoimmune, but then a positive ANA does not guarantee it. It's a probability, but not a certainty. In fact, what is a certainty with any disease?

Please let us know what your rheumatologist has to say next week.

Big Hugs,
Janey Willis
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