Rheum Update: Autoimmne, Autoinflammatory, Autosomal Dominance, and Being a Zebra
Saw Dr. H, my rheum doctor #2 (I coordinate my care between two rheumatologists. One in north FL, one in south FL since I travel between the two areas)
- He mentioned that for autoinflammatory patients, a rapid response/drastic turnaround is seen within just a few days of starting Kineret. This has not happened with me.
- For autoimmune patients, it can take 3-6 months of Kineret to see a full response.
- Because there is some thought that I have both an innate disease (the genetic autoinflammatory disease) and an acquired disease (autoimmune), there’s really no telling how long it will take for Kineret to work.
- I have an autosomal dominant mutation, meaning that any future children I have will have a 50% chance of inheriting the mutation
- Dr. H is going to help me speed up the process of being seen at the National Institutes of Health.
- Hopefully the immunology researchers at the NIH will help me determine whether or not I have TRAPS (TNF-Receptor Associated Periodic Syndrome) or PAPA Syndrome (Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne) in addition to the autoimmune crap. My symptoms fit TRAPS better, but my mutation has never been seen before though it is found where many PAPA Syndrome mutations are discovered.
- Both are extremely rare, with only 34 cases of PAPAS being documented worldwide as of 2010 and TRAPS having been documented less than 100 times worldwide.