Eight years ago when I finally got in to see a doctor, after suffering over a year in what I now know was a major autoimmune flare, I thought I’d get help fast. I mean, I was so sick I had to drop out of my college dance program and was barely able to walk. It felt like an urgent situation.
When my doc said she was going to refer me to a Rhumatologist I was elated, FINALLY I got to see a specialist who would have all the answers!
Little did I know that my particular condition(s) and physiology weren’t going to be easy to diagnose. I left the appointment with that rheumatologist with no more answers than I came in with, and eight years later, I STILL don’t have an official primary diagnosis, aside from a “probably connective tissue disease” along with Celiac disease and mild Raynaud’s.
That seems nuts, right???
Doctors are supposed to have all the answers and we’re supposed to be medically advanced and able to test for all diseases, or at least I thought so.
Based on my experience and hearing the stories of countless others, I now know that’s a fantasy.
In the autoimmune world when you have a particular disease but your lab tests are normal they call it “seronegative.” Some AI diseases don’t have blood tests, or people with the disease only sometimes test positive for certain tests, or sometimes it takes YEARS of being symptomatic before the tests are positive, so diagnosis is very complicated.
There are also non-autoimmune rare diseases that have similar symptoms, and may be genetic or viral. Going to the right specialist for those is key.
Most AI diseases also have a lot of similar symptoms. Like if you have a fever, fatigue and joint pain that could be… so many things. You have to wait for symptoms that are unique to a specific condition and that waiting could take years.
Then you can be diagnosed even if you have negative blood tests, but the kicker is that you now have to have certain number of full blown physical manifestations of the disease in order to officially have it (each disease literally has a list.)
(You can also test positive for the ANA antibodies test only sometimes, read more about that whole thing HERE.)
That means that you may have to sit around and get really, really sick before the doctor can officially dub you diagnosed with something.
For instance, the list for Mixed Connective Tissue Disease includes “stroke” as one of it’s potential diagnostic criteria. Sure guys, let me just sit around here and wait to have a stroke… after that will you treat me??
As advanced as we think we are, the tests and diagnostic tools for some AI diseases really suck. There just isn’t enough research funding for rare diseases, really. And there are things that scientists just haven’t figured out yet. Also, doctors, though they know a lot, just can’t memorize every rare disease in the book, so they don’t recognize the symptoms.
I just watched the interview with Selma Blair discussing her frustrations getting an MS diagnosis and I related so hard. MS is a well known, researched disease and it’s STILL hard to diagnose.
To add insult to injury, her diagnosis was also majorly delayed because her doctors didn’t believe her.
So on top of these fuzzy diagnostics most doctors won’t believe you or will downplay your symptoms, tell you it’s stress, or try to give you depression meds… For years. Sometimes even after you’ve been diagnosed by one doctor, another will say they’re wrong. Yay.
My personal experience: I had to get to the point where I couldn’t even work part time for anyone to take me seriously. I also suddenly had symptoms that were unique to a particular disease, shiny tight skin on my hands and feet that is unique to Scleroderma. This was terrifying, scleroderma left untreated can do major internal organ damage in just a few years. It can be deadly. But my new rheumatologist said he didn’t know enough about the disease to diagnose it and I’d have to see a specialist, who is not covered by insurance and is 3 hours away, if I wanted it properly diagnosed. So there’s also THAT. Most rheumatologists don’t even know how to diagnose all autoimmune diseases!
But, after a lot of frustrating doctor experiences, I have at least found a rheumatologist who is willing to treat my symptoms, and I’m going to try an immunotherapy drug soon, thank goodness. I’ve already tried every darn natural and nutritional remedy out there and its no longer working, so time for the big guns.
So sorry if you’re just going through the diagnostic hurdles and I’m depressing the hell out of you right now!!
I finally had success by seeing an internal medicine doctor for primary care (instead of a family physician) and asking around on my local Facebook AI support group for a rheumy recommendation.
More advice for surviving Diagnosis Limbo:
– Stay positive and do as much healthy stuff at home that you can. Chris Kresser has some great evidence-based advice. The books The Perfect Health Diet and Digestive Health With Real Food are really helpful too.
Seeing a functional medicine practitioner is also helpful. But, it’s hella expensive. I’m still carrying credit card debt from it.
– Build an awesome support system. Without my friends and family I wouldn’t be here now. I lost some people at first, including my ex-husband. Some people are too self-centered to deal with a chronically ill person and good riddance to them. The people who stick around or come into your life when you’re already ill are the best folks.
– Do your own research and advocate for yourself. Dr. Google can’t replace real medical advice, but with how rare these diseases are, your doctor might not actually know how to help you.
– Switch doctors if you’re not getting the care you need. Any rheumatologist worth their weight will treat you regardless of your blood tests. (And if they barely test you for anything but try to diagnose you with Fibromyalgia even though you have symptoms that don’t fit that disease, get a second or third opinion! New research has found that 2/3 of fibro patients are misdiagnosed.)
There are many diseases where large numbers of people are seronegative (Psoriatic Arthritis, Myositis, Ankolosing Spondylitis) or small percentages are (Rheumatoid Arthritis.)
– Meditate. Practice mindfulness. Pray to your god(s) if that’s your thing. See a therapist. Long term chronic illness with no diagnosis is freakin’ stressful and depressing. Don’t get lost in the swamp of sadness.
Me, giving a pep talk to myself every day. “Come on, Artex!”
If you’re going through this diagnostic fuzziness right now I wish you the best!!
May we all find the answers we seek.
I’m currently doing a huge round of more tests and scans and specialists and will let you know what they decide!
The Spoonie Witch )O(