06/01/2026
I'm in desperate need of advice - undiagnosed after 1 year, seen 30+ specialists...still a medical mystery. Am really losing hope and need the brilliant minds of Reddit! What do you do when there's nowhere left to turn???
31F - perfectly healthy until last September. Symptoms started with swelling in one finger, transgressed to edema / soft tissue like swelling on my hands, swollen palms, knees, ankles that look like donuts, lumps of soft tissue around my feet, SEVERE nonstop mottling, etc. I was initially misdiagnosed with inflammatory arthritis / autoimmune disease and put on immunosuppressants for 6+ months. Reacted so horribly to biologics ended up in the ER twice. Bloodwork was always 100% normal, negative ANA and low inflammation markers etc. MRIs come out, show no signs of synovial fluid or joint inflammation. 5 rheumatologists later.. am told but I've known all along, I don't have an autoimmune disease.
MRIs do show abnormalities that make zero sense though - my ankle has chronic remodeling of my ligaments, mild inflammation of my peroneal tendons (where I have A LOT of pain), inflammation/thickening of my tendon sheath. Knees show early stages of cartilage damage and edema around my kneecaps. Skin biopsies are weird too - subtle fibrosis, increased vessel counts with some RBC leakage into my tissue, some inflammation of my WBC, mild mucin in dermis, and dilated blood vessels. Aligns well with what I see on my skin....broken capillaries, bruises everywhere on a daily basis, clusters of small blood spots. Vasculitis has been ruled out. Veinous Doppler was normal. Arterial Doppler shows severely diminished PVR waveforms in my feet and toes.
My BP is all over the place. Was increasing for months - would hit 160/110, then would drop to 70/40 for weeks (I'm normally ~90/70). In Feb I am hospitalized for four days from an "acute kidney infection". Goes away with a bunch of fluids, no one can explain the cause. Lots of abnormal UAs - nothing serious but consistently show protein, ketones, elevated WBC, RBC, crystals, etc. Creatine has been fine since Feb episode, though nephrologist ran adrenal testing which has been the only out of range blood work I've had in a year... very elevated aldosterone (~7x above normal levels) and absolutely normal (not low) Renin. He says I have "volume depletion" and prescribes me...salt pills. Not sure what this even means. Blood serum free norepinephrine was 3x elevated, but PET scan show no tumors. 24-hour creatine is low.
Hematology says no signs of blood clots, coagulation disorders, etc. - though their lymphocyte subset testing has been consistently out of whack. High CD8+ cells with abnormal markers (CD57+), somewhat low CD4/CD8, low-end of normal NK cells...though this deviates. I went to see ID - turns out I had untreated Lyme for a year, and caught Dengue fever (???) shortly after, right before I was put on a ton of immunosuppressants forever. Immunology has been useless when it's come to asking for more tests.... the markers I noticed were a few heme looked for in an otherwise normal flow cytometry. Found out last week I also have EBV reactivation...
Everything hurts. I can't even explain the pain - my skin throbs and burns, with weird intermittent rashes. My knees feel week and unstable, and get acutely painful after 15 min of walking. My swelling is unbearable everywhere. I can never sleep and hardly can eat.
I'm literally mottled 24/7 (absolutely not benign livedo, doesn't matter what the weather is, I am purple and blotchy). The only time it seems to sort of go away is the first 30 minutes after I get out of bed, then any movement triggers it again and I'm back to my mottled self all day. Edema is bad...knees and ankles get so bad I can't walk sometimes. I've seen every specialist I can think to see - some of the best doctors in the country. Literally no one can connect the dots. Thought Mayo was my only hope but they rejected me...noting I should see more specialists locally (I've literally seen over 30+). Got full genome sequencing done...but it's 3 months until I get the results. I have no idea what to do next. Creative minds of Reddit...please help. My doctors are too siloed in their specialties, and there is literally zero collaboration between them. I'm exhausted, hopeless, and drained. All I want is my life back.
