r/Autoinflammatory

I had private genetic test done to see if I had any known gene for EDS, turns out I do, and I’ve been diagnosed with EDS, POTS and MCAS. However this test also showed a mutation in my NOD2 gene associated with Blau Syndrome or IBD, which wasn’t really on my radar before.

However, I have felt there is a missing piece to my health issues for awhile, and I am wondering if this could be it. I have flare ups that mimic a lot of crohns symtpms but do not have crohns. These episodes do not really fit my other diagnoses either.

During these flared my skin starts to become painful, I get fever, intense intestinal pain, diarrhea, vomiting, joint pain and swelling, and oral rashes. Following the flare subsiding I have higher levels of hair shedding and my intestines seem to absorb things less. These episodes are becoming more and more common. Closer together, and nearly monthly.

I’m not really sure where to go from here though. I’ve been told by my other specialists that rheumatology won’t see me unless I have through the roof inflammation marker numbers. I did not see a geneticist for my genetic testing so have no deeper knowledge there. Is it a smoother path to go deeper with a geneticist or try to get into rheumatology? My intestinal pain is very bad currently and I have an appt with a new gastro but is this even worth mentioning to them in a hey should we look deeper into this way?

If anyone has a similar story would love to hear how you tackled getting care.

A study on Undifferentiated Systemic Autoinflammatory Disease. Researchers grouped study participants into four categories. Would love to read the entire study. Big picture - researchers are digging into USAID!

Case involves 14-year-old male, clean bill of health. Not diagnosed with any other health issues. Very active in sports. Dealing with a significant flare on head in the area of the initial site from 2023. The area we're currently dealing with was badly damaged from the initial case which took about 6 months to diagnose.

He has had it develop two other areas (skin and knee/thigh) very minor times. Steroids cream quickly resolved. We believe trauma/ fungal infections seem to be what triggers the immune response.

I am wondering if anyone has any thoughts as to why this could be happening now. He can have other significant wounds from wrestling but have no PG response.

Our family history did show other "autoimmune" responses in our household. Mother has hashimoto's (ongoing) and a case of severe vertigo, sister had a rheumatoid arthritis like spell from a likely viral infection (has not had any episodes like that since). All which occurred in 2023 at the same time the first PG episode occurred.

Are there any tests or Labs recommended? Any environmental things we should look at?

Located in the North Georgia area. Currently testing for radon. Drinking water from what appears to be a very clean, well close to spring head.

Any thoughts or ideas are welcomed!