Undiagnosed or the "Mystery Patient"
About 50% of all persons living with an AiArthritis disease either initially diagnosed with a form of Undifferentiated Disease (i.e., Undifferentiated Connective Tissue Disease, Undifferentiated Spondyloarthritis, etc) - which may or may not progress to a clearly defined disease or go undiagnosed for too long ("Mystery Patients"). Matter-of-fact, this nonprofit was founded because of a mystery patient - we understand!
View our patient-designed resources to help you or a loved one navigate this phase of the diagnosis journey.
These AiArthritis resources were hand picked by our staff and volunteers who all know what it feels like to search for a diagnosis. When we were going through this, we wanted more information about what these symptoms could be, how to communicate them to health professionals, possible treatments, and where to meet others to talk to about this. We hope you find these resources helpful to enable you to be empowered to take charge of your journey and find the support and guidance you need.
Resources for Those Seeking a Diagnosis
Mystery Patient Guide
At AiArthritis, the number one question we get is: "Why won't they diagnose me?" We've heard countless stories of patients waiting 3 months to over 15 years for proper diagnosis and treatment. We aim to find innovative ways to help bridge that gap and expedite detection and diagnosis and this is one of those ways. This is a living document, meaning your contribution will continue to help us to improve our guide.
Project: Diagnosis Equation
Through talking with fellow patients, we realized a potential solution to expediting diagnosis may be as simple as an equation: AUTO (classic symptoms regardless of diagnosis) + Inflammatory Arthritis = X. And, if not X (one of our diseases), then maybe it's Y or Z. Check out this project and learn how you can use tools created from it to improve your diagnosis journey!
AiArthritis Disease Symptoms
Symptoms Associated with
AiArthritis Diseases
Note: There are 22 AiArthritis diseases. While each AiArthritis disease has their own separate set of symptoms, some AiArthritis diseases overlap in presentation and symptoms. To learn more about the distinctions between each condition, visit our AiArthritis Diseases informational page.
Are you experiencing one or more of these symptoms?
- Severe fatigue or exhaustion (even after a long period of rest)
- Cognitive dysfunction: brain fog or difficulty concentrating
- Flu-like symptoms (e.g. periodic fever, nausea, muscle weakness, general malaise)
- Swelling joints and pain
- Back pain and stiffness
- Eye complications (e.g. eye redness and pain, vision changes, uveitis, etc.)
- Mouth sores (e.g. canker sores, ulcers, etc.)
- Inflammation of the joints (knuckles, knees, hips, etc.)
- Skin complications (e.g. lesions, rashes, bumps, sores, red spots, etc.)
- Gastrointestinal problems (e.g. nausea, persistent diarrhea, weight loss, poor appetite, etc.)
- Sensitivity to sunlight
- Heart inflammation and/or irregular heartbeat
- Lung involvement or inflammation (e.g. bronchitis, interstitial lung disease, pneumonia, persistent dry cough, etc.)
- Kidney problems (e.g. nephritis, amyloidosis, etc.)
- Hair loss or thinning
- Neurological problems (e.g. seizures, strokes, confusion, or even psychosis)
- Bone pain
What To Do If You Experience
AiArthritis Symptoms
Who Should I Contact If I’m Experiencing Symptoms?
If you’re experiencing symptoms that could be related to autoimmune or autoinflammatory arthritis (AiArthritis) diseases, the first step is usually to contact your primary care provider or general practitioner. Depending on their assessment - and particularly if you are experiencing inflammatory arthritis type pain - you may be referred to a rheumatologist (a specialist trained to diagnose and treat these diseases).
Referrals can also come from other medical professionals, such as a physician’s assistant, nurse practitioner, emergency medicine doctor, physical therapist, occupational therapist, or another specialist you’re already seeing. Depending on your symptoms, you may also be sent to different types of specialists before seeing a rheumatologist (dermatologist, gastroenterologist, eye doctor, etc.)
It’s important to know that getting a referral may take time. You may be asked to complete bloodwork, imaging tests, or keep a symptom log before a referral is made. In many cases, your provider may first try other treatments to manage symptoms or rule out other conditions. This process may take multiple visits before a specialist referral is approved. Being persistent, prepared with documentation of your symptoms, and advocating for yourself can help move the process forward.
Prepare For Your Healthcare Visit
If you believe that you may have an AiArthritis disease, it’s important to do some prep work so that you feel empowered and informed ahead of your next doctor’s visit.
Prep work should include:
- Start a Symptom Log or Journal: Take note of symptoms that feel different from your normal experience. Track specific details such as: symptom onset, length, frequency, time of day, and anything that made symptoms worse or better.
- Acknowledge Patterns: As you start tracking symptoms, identify any patterns. This will help health practitioners get closer to a diagnosis.
- Take Photos or Videos: Document any swelling, redness, rashes, or other visual manifestations of symptoms. Take note of the date and times that these occur and notice if multiple symptoms happen at the same time.
- Consider Other Factors: Compile all information about your prior medical history, family history, and any other lifestyle factors that are significant and/or should be taken into consideration. Be as detailed and extensive as possible!
Don't forget to download our Mystery Patient Guide for more guidance!
- Start a Symptom Log or Journal: Take note of symptoms that feel different from your normal experience. Track specific details such as: symptom onset, length, frequency, time of day, and anything that made symptoms worse or better.
Tests That May Help Expedite Diagnosis
Blood Work
- Positive blood work markers are helpful for some diagnoses, but not all of our diseases require positive blood work (for example, rheumatoid arthritis or undifferentiated disease types) to get a diagnosis.
More Common Inflammation Tests:
- Erythrocyte Sedimentation Rate (ESR)
- C-Reactive Protein (CRP)
- Antinuclear Antibody Testing (ANA)
- Rheumatoid Arthritis Factor (RF)
Imaging Tests (e.g. X-Rays, MRIs)
If Testing Is Inconclusive
If testing is inconclusive, ask your doctor about next steps. Doctors may want to wait until symptoms worsen, which will only prolong your diagnosis process.
You can self-advocate by asking the following questions:
- What do my symptoms indicate?
- What conditions are you considering?
- Do we need to order additional tests?
- Tip: Request an MRI, if possible
- What do my symptoms indicate?
Undifferentiated Disease IS A Diagnosis
Patients are often given an Undifferentiated Disease diagnosis when they experience symptoms similar to other autoimmune or autoinflammatory arthritis diseases but the symptoms are not specific enough to confirm a single diagnosis.
To learn more, visit our Undifferentiated Disease page.
Talk Show Episodes For Navigating the Diagnosis Journey
When patients are in search of a diagnosis for suspected autoimmune or autoinflammatory arthritis, they can often feel overwhelmed by the abundance of intricate medical information out there. While it is crucial to consult with healthcare professionals, our AiArthritis Voices 360 Talk Show - which is PATIENT-LED - serves as a valuable additional resource for individuals navigating the diagnostic process.
We have selected some episodes we think may help you in your journey diagnosis:
Episode 84: I'm a Mystery Patient, Now What?
Have you ever experienced the frustration of not being able to get a diagnosis, or worse, receiving the wrong one?
In this episode, our co-hosts Tiffany, Kelly, and Kerry, dive into what it is to be a mystery patient. In addition, they each share their personal experiences of being a mystery patient, and the challenges they experienced with delayed diagnosis.
More Episodes of the AiArthritis Voices Talkshow
Ep 1: The Mystery Patient - How AiArthritis Came to Be
ListenThis week Tiffany is joined by Kelly to talk about their experience of being Mystery Patients and to share their diagnosis story. The route to diagnosis and treatment is often long and complicated, but it shouldn't be. The discussion also gives an overview of the goals of the podcast by giving an overview of The International Foundation for Autoimmune and Autoinflammatory Arthritis, what we do, and invites all patients to the table to talk about their experiences as "the mystery patient".
Ep 6: Diagnosis STAT!
ListenThis episode join your host, Tiffany, as she and co-host Suz Schrandt discuss the importance of early detection and diagnosis. They address barriers to receiving an accurate diagnosis, as well as what patients can do to increase their chances of receiving an accurate diagnosis in a timely fashion. Research consistently shows that early intervention improves patient outcomes. Whether you are a patient looking to confirm the accuracy of your diagnosis or avoid diagnostic delays in the event of new disease onset or a member of the public wondering if you or someone you love could be experiencing the onset of a rheumatological disease, this episode is a must-listen!
Ep 41: Biomarkers - Diagnosis, Disease Management, & even PREVENTION?!
ListenTiffany and Patrice discuss the importance of biomarkers. Do biomarkers hold the key to understanding disease severity and predicting disease onset?
Ep 82: AUTO + Inflammatory Arthritis: Diagnosis, Please!
ListenJoin us for this episode where the co-hosts, Tiffany and Leila, share their personal journeys of being diagnosed with AiArthritis diseases. Tune in to hear how their journey of being diagnosed and misdiagnosed and the lessons they learned throughout the process.
We also delve into the exciting new resource tool developed by AiArthritis, which helps patients navigate the process of seeking a diagnosis, understanding symptoms, and asking the right questions of their doctors. Plus, we invite other patients to share their stories and provide insights for those just starting their Auto + inflammatory arthritis journey. Join us for an informative and uplifting conversation on Auto + inflammatory arthritis diseases.
Ep 90: Why Won't They Diagnose Me?
ListenAt AiArthritis, we represent those diagnosed, their care partners/support network, and the undiagnosed (often called the “Mystery Patients”). This episode is for those struggling to get diagnosed. Join co-hosts Tiffany, Kerry and Danielle as they share their personal diagnosis struggles and delve deep into the challenges many other patients face on their diagnosis journey. From navigating initial symptoms to facing dismissive healthcare providers due to 'normal' blood work, we're talking about common hurdles that delay diagnosis, then encouraging YOU to share your experiences and perspectives as well. Together, we will create a Patient-Led Guide to an AiArthritis Disease Diagnosis.
Resources For Every Step of The Patient Journey
Disease List
- Disease List: Could you have an AiArthritis disease? Learn more, each disease listed breaks out to its own page.
Early Symptoms Study
- Early Symptoms Study: An investigation into patient-reported symptoms of early disease and onset experiences.
Surgery with an AiArthritis Disease
- Surgery with an AiArthritis Disease: Learn valuable insight about surgery preparation, challenges, and questions to ask your healthcare provider.
OA vs AiArthritis E-Book
- OA vs AiArthritis e-Book: Learn the differences between osteoarthritis and autoimmune or autoinflammatory arthritis diseases
Have more questions? Email us at
info@aiarthritis.org
Information For Those Seeking A Diagnosis
Here, you will discover articles designed to assist you throughout every stage of the patient journey. We have carefully chosen these resources to support those who are the undiagnosed mystery patient.
More Information For The Mystery Patients
Share Your Story & Get Involved!
Sometimes the best medicine is diving in to learn more, meeting those who have similar lived experiences, and doing activities that can help to improve your health and the
AiArthritis community!
Where to Start:
- Follow
AiArthritis on Social Media:
- Become a Volunteer
- Join AiArthritis Voices
- Submit a Rant
- Join our Research Database
- Join our Online Community
Share Your Story:
Being a mystery patient and seeking a diagnosis can a tough, lonely, and frustrating journey. Your story is unique and can potentially help us to help other patients. What would you want fellow patients to know about YOUR diagnosis journey ? Your patient-identified issues can aid us in creating patient-infused solutions.
