Just looking for support after my doctors appointment today. I’ve had chronic pain issues since I was in my teens. I specifically remember experiencing the pain for the first time and the doctor telling me it was just stress that I carried in my upper back muscles. I was a teen so I took that as the answer. Then in my early twenties, I went back to the doctor to get on antidepressants, because I’m sure most of you understand that. At that appointment, I mentioned my pain being present for years now and especially bad in my knees and upper back. The doctor told me to take ibuprofen and sit more. That was frustrating because I told him ibuprofen didn’t work. Another appointment in my mid twenties where I again mentioned the pain and was again told to take OTC meds. I haven’t been to the doctor in 8 years for the fear of being ignored again. I finally sucked it up and went today due to the pain affecting my day to day life and being almost unbearable now. The doctor basically told me the pain was due to mental health because I have no familial history of chronic issues or autoimmune (I do have familial history of autoimmune). Anyway, she pressed on my abdomen and neck and asked if it hurt. Of course it didn’t because the pain is in my joints and leg/back muscles🙄. She ordered bloodwork but all of my “inflammatory levels” are normal. I’m extremely frustrated because I feel like I wasted more time and even money. If I can convince her to give me a referral, would a rheumatologist listen even if my bloodwork is normal? I just need answers or help because I’m in so much pain.

Hello,

I am trying to gathering information for my wife regarding JAK1 gene mutations and autoimmune conditions. If anyone on this sub has a JAK1 mutation, or resources / information regarding an autoimmune condition that is related, any help would be greatly appreciated.

She has been through quite a terrible few years, and after complex autoimmune and gene testing, done in our home state AND at Mayo Clinic Rochester - her specialists have determined that she has a Gain-of-Function JAK1 gene mutation that is causing her eosinophils to over produce, move to strange places in her body, then release their "attack" chemicals. Her body is in a constant state of attempting to contain these chemicals, and builds scar tissue around them. This tissue is literally everywhere in her body "in-between" systems. So in her pleural cavity, facia surrounding her organs etc. because the tissue is fibrous, it cannot be easily seen on modern day imaging(CT, PET etc.).

Her specialists are a bit stumped at this point. While they have identified her mutation, they have not been able to correlate it to a specific autoimmune condition.

I am seeking any information that you may have regarding a JAK1 mutation, or if you have been on a similar journey, do you have any resources that have helped you with a complicated diagnosis such as this? Hoping to avoid a future life threatening surgery due to this tissue growth, as she has been through enough of those already.

Thank you so much in advance!

they didn't accept my referral for knee place said gp has to do something more why is that plse

Hi Everyone,

I'm a student at QUT currently working on a project that aims to create a product that could support doctors and patients with getting Autoimmune diseases diagnosed.

To support this project, I'm looking to gain the clinical perspective (from medical professionals) to get a better understanding of the challenges that need to be overcome, and existing diagnosis processes.

If you have a second and have experience diagnosing autoimmune disease, I would highly appreciate your time if you could complete the attached survey.

The survey questions cover:

• Your experience with diagnosing autoimmune disease
• Challenges you encounter when diagnosing patients
• What patients can do to support their diagnosis journey

It's completely anonymous and should take <10 minutes to complete

Thanks in advance for your time!

https://docs.google.com/forms/d/e/1FAIpQLSfwUZ9x4LsU90PRyluokLobdrwtpQelsvvzOvmwo-ZG9KLrGA/viewform?usp=header

so, i got diagnosed with seronegative rheumatoid arthritis a month or so ago, based off symptoms like bilateral joint swelling in the hands, feet and sometimes knees, worse in the mornings, etc. but lately i’ve been experiencing something different. i’m having episodes of rapid, sudden redness, heat and pain come on in my feet, hands, knees, shoulders and even my ear! and it’s usually just one side, not both. but sometimes it is both 🤷🏻‍♀️ it feels so hot, like i’m burning. and the pain is more my entire bones, not just my joints. they also last anywhere from as little as 30 minutes to the longest being about 6 hours. not like my original symptoms that would last days to weeks. my doctor was kind of dismissive when i messaged her about it, saying i need to give the hydroxychloroquine more time to work. but it just doesn’t fit what i know about ra. i have a theory, but id like to hear if anyone else experiences this at all?

Imagine an older eye doc not using an SD-OCT scanner or autofluorescence. Apparently, many just insist on a regular fundus exam, or looking at a grid or in a VR headset to find out the hard way that part of your peripheral vision is permanently gone, and you might end up sucking at your favorite video games, unable to read a circuit schematic without a "phasing" effect from the blind spots, etc. And who knows if you might also lose the ability to read fine print. If SD-OCT can catch eye damage early before it affects your actual vision, why isn't that the norm? Plus you can find out the volume of your retinas!

Not to mention that it scares me that you will probably never see color the same way again, and that some advice out there seems to suggest turning up font sizes or adjusting lights.

And my biggest fear: a lot of studies point to light-related damage being a factor, as well as the fact that the medication impairs the lysosomes, which are necessary to clear the recycled pigments that can build up. Now I worry that afterimages or photobleaching will be the culprit, and people will be asked to give up driving at night, live music, or even video games with a lot of color changes. Even checkerboard floors push the poor cones into a see saw of light and dark, forcing them to work overtime to clear these chemicals.

It's sad to see so many young artists, biologists, pilots, hobbyists and professionals of all stripes on these meds, potentially at 1:5 risk of blindness by 40 or 50, perhaps forced to quit what they love because they can no longer do it. Or never seeing their favorite color again. I'm bothered by my regular blind spots!

I’ve been having terrible fatigue, joint and muscle pain, soreness off and on for the previous year, recent months have become very bad. I’m seeing a Rheumatologist in a few weeks. Is the redness in my face the appearance of a typical Lupus rash? Thoughts are much appreciated

Disclosures: The presence of any Paraneoplastic condition or related malignant condition at this point is not at all diagnosed and may well be far-fetched. That being said, I was hoping to explore a strange symptom.

Around 9 months ago, I had a sudden bony bump in my right wrist at the base of my thumb accompanied by varying degrees of pain, particularly with extending the thumb up. After an x ray looked clear and a brace prescribed by the orthopedic specialist to manage a suspected DeQuervains Tendonitis didn’t reduce the bump, the orthopedic specialist sent me for an MRI a couple of months ago. The MRI showed synovial / joint fluid all over that right arm, though no specific damage to the bone, cyst, tumor or any other internally visible reason for what you can clearly see and feel from the outside is a bony, hard bump on my wrist.

Following this, I was given a 8- or 9-panel screen for rheumatoid arthritis, from which the only item that came back was a positive RF. Notably, anti-CCP (which I understand correlates strongly with RA) came back normal/negative. I was then diagnosed by the orthopedic specialist as having RA, and have now had my first intake appt with a rheumatologist.

This particular rheumatologist recommends a pretty strict keto/paleo diet to manage inflammation before trying any medicinal treatments. Honestly, respect.

**However,** before I embark on that journey which will be annoying from a dietary standpoint, based on the oncology community’s experience, is it worth first just asking if my PCP is willing to order a blood panel for Anti-Hu, Yo, Ri, and CV2 to “rule out” paraneoplastic arthritis presenting in that wrist due to some kind of underlying malignant issue? (It is my understanding that those markers can help pin this down). From what I’ve read, though Paraneoplastic syndromes are very rare, they can tend to be more closely correlated with positive Rf and negative anti-CCP blood work, localized flare ups, and arthritic symptoms without bone damage than RA may be which are all things I’m experiencing.

For a little extra perspective, I’m a middle aged former smoker (of about 5 years, from starting about 21 years ago to quitting about 16 years ago). Not currently experiencing weight loss, night sweats etc. I do have celiac so I may have a certain propensity toward autoimmune conditions. The bump on the wrist stubbornly persists. No specialist along the way - ortho or rheumatologist - has suggested they suspect synovial sarcoma or any kind of cancerous condition specifically in the wrist causing the bump.

I guess I don’t know why I wouldn’t ask for this, and don’t know why the PCP might turn it down, other than maybe insurance limitations (I’m in the US) or because those panels are rare or something. Just hoping to rule out a major issue and make sure I really have to drastically cut sugar down / prepare for a long-term autoimmune issue when there could be something else going on. Any insights here would be welcome.

Thank you.

Hi! I have pernicious anemia (+blood test in 2022) that was lost in the shuffle between providers. My PCP just prescribed B12 injections and gave a referral to a Rheumatologist. I’m assuming they’ll want a full blood work, possibly a referral for an endoscopy to check for autoimmune gastritis. I’m planning on doing my first injection tomorrow morning and my first appointment with the Rheumatologist isn’t until end of September.

Me question is: Should I wait to do the injection? Will that interfere with being able to diagnose anything? I don’t want to wait because PA is not fun. I also don’t want to mask anything that needs to be found.

Thank you in advance!

hi, I have Grave's disease. I went to get other autoimmune biomarkers tested. My ANA is positive 1:160. Dense Fine Speckled pattern is noted. This pattern suggests the presence of DFS70 antibody which has a low prevalence in systemic autoimmune rheumatic diseases. ICAP nomenclature: AC-2,4,5,29.

RF is normal. Anti-CCP Ab, IgG/IgA is normal. Do I need additional tests? I am very worried.

Hi all!

26f 150 lbs 5’6.

Complex case but working diagnosis is Relapsing Polychondritis and will be seeing Cleveland Clinic soon for full eval. Systemic symptoms for 2 years of severe progressive sensorineural hearing loss, inner ear pain and pressure, mastoid pain and pressure, out ear burning and itching with redness sometimes distinct line sparing lobe sometimes not, headaches, migraines, low grade fevers, idiopathic chronic urticaria, new onset rosacea and eczema, non erosive polyarthralgia, severe burning of hands with no visible symptoms, trigeminal neuralgia, episodic peripheral neuropathy, possible nasal chrondritis, severe episode of chest pain told likely costochondritis.

That’s the background but…

Specifically interested in opinions on possible cause of recent hospitalization. Had gradual onset of several days of epigastric tightness and perhaps gut dysmotility but no changes in bowel habits. Then awoke with 103 fever, severe nausea and 150 heart rate though the day. That evening I had sudden onset of severe uncontrollable rigor spasms followed by repeated vomiting. Sepsis was suspected originally.

All blood work and imaging at hospital came back completely normal, including head CT, head MRI (except trace mastoid effusion), abd xray, abd CT, spinal mri (did not tiny pulmonary nodule which was gone with follow up static chest ct, cardiac echo and lumbar puncture.

I got 2 DVTs and 2 SVT clots while there. Assumed provoked due to midline and regular IV (on of each type of clot in each arm). I also got severely symptomatic intracranial hypotension from the lumbar puncture.

Additionally mid-stay I had these rashes show up overnight on my legs. Non itchy completely asymptomatic. Stayed for maybe two days then left. But they left bruises behind. I still have a faint bruise from the large one over a month later. I did receive various medications while there including antibiotics so it’s possible it could be drug related, but the remaining bruising was odd.

They finally gave me a steroid injection when nothing would help the positional headaches from the intracranial hypotension and that ended up helping significantly with everything- night and day difference.

Two weeks after discharge I had gradual onset of mild chest tightness bilaterally then suddenly awoke with severe crushing chest pain. When I tried to stand upright it felt like someone dropped sandbags on both sides of my chest. Mild tenderness on palpation but not severely painful, but debilitating if I tried to stand upright and still hurt lying down. Resolved immediately with upping my prednisone. Doc said probably costochondritis but I was thrown off by lack of sharp pinpoint pain.

The hospital team, my rheumatologist and neurologist all have no idea the cause of my symptoms. Best guess is a virus they didn’t happen to test for but they literally sent out testing for dozens and dozens of viruses.

Any thoughts would be helpful!! It was quite scary and I’m anxious having no clue if it could happen again. Thanks! Pics of rashes in hospital, samples of ears, and episode of suspected nasal chondritis and previous facial rash/rosacea all added.

Hey all,

Here is another follow along video I have done in the AxSpa/PsA (Ankylosing Spondylitis) series.

A lot of patients don't know where to start with early morning stiffness and what spinal mobility to complete.

I hope this helps someone today

Any questions please feel free to ask!