NOD2 gene mutation, what do I do next?
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.