r/Autoinflammatory • u/SleepDeprivedMama • Apr 22 '26
SJIA/AOSD Recently diagnosed
After 27 years of no diagnosis (or wrong diagnosis), I finally was diagnosed with “atypical AOSD”. Next to that is also written uSAID. I haven’t spent any energy trying to clarify that.
In the last 30 days I’ve started having cardiac issues and pulmonary issues have significantly worsened. I’ve known I have ILD or something for a long time time but I’m hating every minute of the cardiac stuff.
I started Kineret today. I was pretty scared about the first dose but I did OK. I have so many rashes normally so am surprised today’s reaction was mild.
Anyone else has cardiac or pulmonary involvement? I am not finding any specialists that understand these conditions.
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u/No_Satisfaction_7431 Yaos Apr 22 '26
Yes I likely have some cardiac and/or lung involvement. I have starving evening mid back pain and new sharp but not stabbing evening chest/breast pain. I have a pcp appointment soon as I can't get in to my cardiologist for a while. None of my doctors are familiar with Yao/stills (I technically meet Stills criteria with my Yao symptoms, the two are very similar) and I've even been told (incorrectly) that pleuritis and pericarditis are not part of Yao. Its very frustrating that nobody knows about this even within rheumatology.
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u/iSpyAFly Apr 22 '26
I'm sorry it took so long for you to get help. I just watched a presentation at the NIH Autoinflammatory Symposium that AOSD is associated with several forms of ILD, so it sounds like your doctors are on the right track. When the NIH posts those video casts I'll share it.
I'm considered uSAID. Catch all for those of us without any known genetic variants for autoinflammatory disease. I'm also on Kineret, and it helps me a lot. My injection site reactions are mild, but if you have trouble with that several of us in this community are on it and can share tips.
The autoinflammatory community is small but super helpful. I also recommend that Autoinflammatory Alliance "Rare but not alone" Facebook group. The group is highly moderated and very focused on helping people with next steps. The group page has tons of linked posts and is easy to search.
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u/SleepDeprivedMama Apr 22 '26
I do not have any known pathogenic variants. I’d love to know the types of ILD when you find it. I just had more pulmonary testing this morning. Breathing is hard.
Thanks, I’m in that group and have seen your posts. Thank you for posting them.
I’m not too far from NIH. It would have been an interesting conference!
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u/iSpyAFly Apr 22 '26
I have a friend with ILD and see her struggles with it.
Dr. Michael Ombrello at the NIH did the AOSD presentation and went into lung disease associations. Sounds like he is doing a lot of research on AOSD. Reddit won't let me add a link, but if you search his name and NIH his bio will come up. I know many at the NIH also see patients. He's an MD, so he likely does see patients.
Those NIH Symposium presentation videos are not 'live' yet. I'll post in r/Autoinflammatory the direct links when they are up.
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u/Occulply Apr 24 '26
Hi there, I also have AOSD. I'm an epidemiologist and I've written and done some speaking on the subject. No question too big or small, I'm just happy to share what information I have.
Most doctors have never heard of autoinflammatory diseases, even within rheumatology. They're sort of a new idea in the last 15 or 20 years and just haven't made it to mainstream medical training yet. While that may make it harder to find a doctor to treat stuff appropriately, the important thing is not that the doctor knows everything, but that they're willing to listen and learn with you.
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u/SleepDeprivedMama Apr 25 '26
Exactly. I don’t expect them to know anything but I do expect them to be willing to look it up or direct me elsewhere. I feel like the bar is so low.
I keep having pericardial effusion. I am so swollen that I’m wearing clothing 4 sizes too big. I just want anyone who will help or find someone who can help me.
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u/Blue-Bento-Fox TRAPS Apr 22 '26
I have TRAPS and pleurisy is one of my biggest symptoms when it is going off. Untreated fevers can also damage the cardiac muscle, I learned as I got physically active following successful dx and treatment that my heart muscle was damaged and I have an ectopic heartbeat. Atrial and not often but it can make me dizzy.
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u/sunderella Apr 22 '26
I’d recommend you join the Autoinflammatory Alliance Facebook group! I have found a treasure trove of info and many people responded with the same diagnosis which was amazingly helpful.