When The Bloodwork Doesn’t Confirm The Diagnosis

If It Quacks Like a Duck…

If It Quacks Like A Duck....

If It Quacks Like A Duck….

We’ve all heard the expression, ” If it looks like a duck and quacks like a duck…it must be a duck”. Well, not necessarily when it comes to autoimmune conditions. Often they present in a clear, undeniable, ‘can’t be doubted’ kind of way, yet the bloodwork test(s) that supports the diagnosis is negative. Does it mean that the patient does not have the autoimmune disease? Absolutely not. It means that a certain number of patients (some estimates say 20% to 40%) of Sjogren’s Syndrome Patients  do not have positive bloodwork. These patients are otherwise known as being “seronegative“.

On the other hand, a patient can and often does have more than one autoimmune disease or a mixture of cross-over symptoms of various autoimmune conditions. Diagnosing this mixture of cross-over symptoms can be equally frustrating for both the physician and patient, particularly when, again, there may be no positive bloodwork to support some of the co-morbid diagnoses.

I co-lead a support group for Sjogren’s Syndrome patients and am always receiving calls & referrals from patients who have been referred to me for possible inclusion in our group or just for Sjogren’s information.

I received a call a number of months ago from a very nice woman who wanted group information and also was looking to establish a Rheumatologist familiar with Sjogren’s Syndrome.  We maintain a list of doctors in the Pittsburgh area for just such calls. One of those doctors, who also happens to be my physician, is a doctor who was trained under one of the leading Sjogren’s doctors in the country. This doctor is also in the process of starting a Sjogren’s Syndrome Clinic here in Pittsburgh.

Excited to finally get some answers, our new member contacted my doctor for an appointment. Both she & her husband attended her first doctor appointment, which she told me, lasted about 1.5 hours. The woman was ecstatic to finally have found a caring doctor who would diagnose and treat her. She was impressed with his thoroughness, the way that he listened to her and the large number of blood tests he ordered to help find answers.

But then a very disappointing and familiar scenario happened. When she returned to his office to discuss the testing results, the doctor informed her that she did not test positive for Sjogren’s Syndrome and therefore, does not have Sjogren’s. It is a frequent story that I hear from some of our group members and by many folks who frequent the Sjogren’s World Forum. And it is of course, understandably upsetting. After months or years of dealing with multiple symptoms, severe fatigue and pain, one gets excited at finally being diagnosed and more importantly, treated, only to find out that they are now back at square one. Not only that, the patient has just learned from this doctor, that he only believes that her condition is Sjogren’s Syndrome if the bloodwork says it is, because that is the teaching philosophy of teachers that he was instructed by and he follows. Instead, she is told (as so many are), that she has Fibromyalgia. I will save my personal rant about Fibromyalgia as the frequent  “go to” diagnosis when other clear-cut answers have not been found…for another day. But I will say this, I had the exact same Seronegative label until I discovered that as a person with severe immune deficiencies, I cannot produce the antibodies that would “prove” I have Sjogren’s Syndrome. It is very common for Sjogren’s patients to have immune deficiencies, which may, for some, explain their seronegative status.

Which came first, the lack of diagnosis or the depression?

Is there any doubt that autoimmune patients get depressed by all of this? I have read some studies where depression and brain fog were the initial presenting symptoms of Sjogren’s. Whether depression is an actual symptom of Sjogren’s Syndrome or whether it is a situational result from dealing with chronic illness and/or the lack of diagnosis/treatment, it seems inevitable that at one time or another, autoimmune patients (Sjogren’s and others) will experience depression.

I felt badly when my new member suggested that perhaps she should not be a part of the group since the doctor told her that she did not have Sjogren’s Syndrome. Yet, she knew in her mind and in her painfully afflicted body, that she did have Sjogren’s Syndrome. Does it mean that even though she knows her body better than anyone else, but because she did not attend Med School that she is automatically wrong? I personally don’t think so. But most of us patients are treated exactly that way. I would much rather see doctors act as partners with their patients in finding the correct diagnosis and treatment. That doesn’t mean that they must have the answer right after the bloodwork. Afterall, it is (or should be) a process of elimination in ruling out conditions to ultimately and eventually arrive at the correct diagnosis and treatment. I do have an Immunologist that uses this approach & I very much appreciated his honesty about having no clue what my diagnosis was and not shooting from the hip with a wrong diagnosis. How refreshing.

What I don’t understand (and maybe some physicians do this and I am just unaware of it), is why can’t vague and nebulous autoimmune illnesses like Sjogren’s Syndrome, be diagnosed in the same way that ADHD is? That is, ADHD (Attention Deficit Hyperactivity Disorder) is a disease which has no single, diagnosing test. The physician, therefore gathers information about the person and symptomology when making the ADHD diagnosis. And ultimately, the patient is treated with medication. If the patient responds to the medication in a positive way, then the diagnosis of ADHD is confirmed. Wouldn’t it be a lot easier to make a positive assumption of the Sjogren’s Syndrome Diagnosis when faced with overwhelming symptomology in the absence of positive bloodwork and treat it accordingly?? If the patient responds favorably, then we can assume that indeed, the patient has Sjogren’s Syndrome. Who knows, this might even alleviate some of the patient’s mental anguish and subsequent depression. But maybe that’s just me…what do you think?

SjoDry and Quacking

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About vitalsignspgh

Sandy Burkett is the Creative Engineer, President and Owner of Vital Signs. Vital Signs is a certified Native American/Woman-Owned custom sign and graphics company located in Carnegie, PA.
This entry was posted in Patient Pet Peeves, Searching for Answers, Seronegative, Symptoms and tagged . Bookmark the permalink.

11 Responses to When The Bloodwork Doesn’t Confirm The Diagnosis

  1. blackbirdatnight says:

    Thanks for writing this, Sandy. It’s so important. I had a rheumy diagnose me with Sjogren’s on the basis of a detailed history and tests, even though I was seronegative. He retired 5 years ago, and I miss him and appreciate his thoroughness so much more now! I have since been seen by two other rheumies who rejected the Sjogren’s due to the seronegative bloodwork, and both told me I had fibromyalgia. My first rheumy told me I had fibro, but it was secondary to the Sjogren’s. I didn’t see either doctor past the first appointment, and haven’t had a rheumy for 5 years as my choices are extremely limited here.

    Depression is very much a chicken and egg problem. I became depressed 2 years before the recognizable onset of Sjogren’s in 1990, but even then there were a few earlier symptoms that could have been related. Alas, once I got sick, my depression became so much worse as I was always being minimized by doctors when my whole quality of life had gone. The most honest assessment I had at that time (in 1994) was that there was something going on and I would just have to wait until a syndrome asserted itself. It was 2002 before I got the diagnosis that made sense of all the years of suffering.

    I have pretty much reconciled myself to the fact that I am on my own with this (as I can’t tolerate any of the treatments), and just have to live as well as I can. It’s not always easy.

    Thanks again for writing this.

    Blessings,
    Jane

    • vitalsignspgh says:

      Thanks Jane.

      I am sorry to hear that you are unable to tolerate any of the meds..that makes it very challenging. Even the meds do not provide the amount of relief that most of us need.
      Take Care.
      SjoDry

  2. Stringent diagnostic standards (e.g. a patient must meet 4/7 established diagnostic criteria, or must have a specific test result) are useful for research. That consistency eliminates a lot of variables that could impact research outcomes. In actual medical practice, however, failing to diagnose a patient with a condition like Sjogren’s Syndrome because they don’t meet that precise standard benefits no one. It just keeps the patient from accessing the care and support they need, and can leave the patient feeling confused and invalidated. (BTW, my rheum wouldn’t diagnose me with SS, even though I was sero-positive AND had typical symptoms. Just recently an eye doc slapped the SS label on me. It’s about time!)

    Thanks for your post!

    • vitalsignspgh says:

      You are welcome Melissa. My doctor’s philosophy is to only diagnose as Sjogren’s if the bloodwork is positive. However, when I switched to him (to not travel out of the area anymore), I was already being treated
      with Plaquenil, Salagen & Restasis and having a good response. But when I discovered my inability to produce the antibodies, I shared it with him. As I have continued to see him & as my Sjogren’s Syndrome
      is now in systemic attack mode, he has changed my diagnosis to Primary SS. So I think you have to decide whether the Rheumy you see may change course/dx as they get to know you more or whether it is worth your while to move on to a new doc who believes in treating you no matter what the dx is.

      Best of luck.
      SjoDry

      • Jan says:

        Thanks for this post. I have SO many medical issues at this point, I think most of which are all linked together somehow. I also am sero-negative, yet lip biopsy and eye tests have shown positively I have Sjogren’s. Reading this article, I wondered how you discovered your inability to produce the antibodies? I’m wondering if this may be a problem for me, as I had an endoscopy for several issues, one of which was to biopsy for Celiac disease. I had already been gluten-free for 9 months when it was done, but it still came back with “mild intraepithelial lymphocytosis, including the villous tips….. while non-specific finding….. it may be seen in some cases of celiac sprue”. But bloodwork then done shows no antibodies for it, so not officially diagnosed with it. I don’t know…. as we all know, it just gets really frustrating sometimes.

        So my question is, how did you find out you don’t make antibodies? Was there some type of test for that?

        Thanks,
        Jan

      • vitalsignspgh says:

        Hi Jan.

        My Immunologist ran a huge number of tests (some really over-the-top) to narrow down the possibilities of what my diagnoses might be.
        One of the typical ways that an Immunologist discovers immune deficiencies is by administering the Pneumovax 23 vaccine to patients. The Pneumovax 23 vaccine is a vaccine used for the prevention of pneumococcal diseases caused by the 23 serotypes contained in the vaccine. The patient receives the vaccine and returns in 6 weeks or so to be rechecked. There are pre-set criteria based on the number of antibodies the patient is or is not able to produce after receiving the vaccine which determines the presence of an immune deficiency. Though I am not a physician, this particular vaccine pertains to IgA. There are other blood tests which measure other immunoglobulins. In my particular case, I could not produce any of the 23 antibodies in the vaccine and also have deficiencies in other immunoglobulins as well. I can tell you that I had a lot less angst about my seronegativity after learning that I could not produce them. My Immunologist feels that my immune deficiencies led to my autoimmune issues. I found a scholarly medical article stating that immuno-deficient patients could not produce the antibodies that most auto-immune tests look for in diagnosing. I highlighted it in yellow & sent it to my doc. 🙂

        Good Luck in getting some definitive answers Jan.

        SjoDry

      • Jan says:

        Thanks so much for your reply. I don’t have an immunologist, but I am going to bring this info to my next appointment and see if I can get tested for this. Thanks again, and keep up the GREAT work you do!!

        Jan 🙂

  3. Stephanie Asteriadis says:

    How did you discover that you had severe immune deficiencies? Was it through a different doctor than the one you have now who told this woman she didn’t have Sjogrens because her bloodwork was negative? I went to the same sort of rheumatologist as that woman (I wrote you about it) and was told I have no autoimmune disease whatsoever, but just osteoarthritis. When I asked him how he would explain all of the other symptoms, such as redness and swelling of my finger joints, fatigue beyond description, foggy thinking (in the middle of a doctoral program while working full time, no less!),intestinal symptoms, weakness, insomnia, skin rashes that look like lupus, etc., he simply said “I don’t know,” and wrote me a prescription for pain medication. Then he suggested I go to my primary care for the prescription in the future, because then I wouldn’t have to pay for a specialist.

    I like your reasoning about treating the symptoms and seeing what happens. One doctor who is working with me on my case does very little testing at all, but has me on supplements for the symptoms (he specializes in chronic fatigue and believes that’s what it is.) if something makes a positive difference, we keep it in my regimen; if not, we try something else. I slowly seem to be improving, but still don’t feel normal. I have exercise intolerance and really have to pace myself and simply can’t exercise yet, but I’m hopeful that eventually I will be able to. The dry eyes and mouth that made me think I had Sjogrens have gone away with the insertion of punctal plugs and putting coconut oil in my eyes at night for about a week and oil pulling with coconut oil every day for about a month. I’m not sure what that means, but the redness in my eyes didn’t subside after I got the punctal plugs until I did the coconut oil in my eyes for a week, but I have had no problems with those two symptoms since. I’m wondering if a person can have Sjögren’s syndrome and have some of the symptoms just go away like that?

    This was a good post about a strategy that I wish more doctors would use: assume it is what the symptoms point to, regardless of the lab work being negative, and do a test of treatment to see if it responds to the treatment for the illness that the symptoms point to. Success would pretty much confirm the diagnosis, don’t you think? I’d like to hear more about the immune deficiency and how a person would find out if that is why they have no antibodies. Thanks for sharing your thoughts!

    Stephanie

    • vitalsignspgh says:

      Hi Stephanie.

      I went to an Immunologist who did lots of testing to discover my immune deficiencies. I also do a lot of research myself. I found that no doc was taking charge of all of my symptoms & looking at the big picture.
      So I started making connections. I don’t know about your symptoms specifically, but I will say that with myself & many of my support group members, the symptoms wax & wane & flair at various times. At the end of the day all that can be done is to treat the symptoms. Some products help more than others. Does it mean that the Sjogren’s is gone? Well..not in most cases. With Sjogren’s symptoms for the most part, it seems to be, now you see em, now you don’t.

      As for the inability to produce the antibodies..I was told by a friend in NC that her doc/Immunologist at Duke told her that she can’t produce them. That made me go ask my Immunologist..if that is true? He said yes. Is it true for everyone? I don’t know. But for me it explained why I am having flaming Sjogren’s Syndromes with no bloodwork testing positive. So again, all anyone can do is to treat the symptoms..seronegative or not. It is not uncommon for Sjogren’s patients to go to a handful of docs, before finding the right fit.

      Good Luck.
      SjoDry

  4. Kyleen says:

    body{font-family: Geneva,Arial,Helvetica,sans-serif;font-size:9pt;background-color: #ffffff;color: black;}

    Wonderful writing and very clear!  Love you, Kyleen.

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