I'm not sure if anyone will have any advice, but I've been dealing with a mysterious (seemingly) auto-immune disease that none of the specialist I've seen have been able to figure out. I am 21 years old, female, college student. I have diagnosed Ehlers Danlos Syndrome (a genetic connective tissue disorder) as well as Mast Cell Activation Syndrome and Postural Orthostatic Tachycardia Syndrome. It took me years and lots of specialists to figure those pieces out, but the auto-immune stuff is just a puzzle. I have been chronically ill much of my life but until the last few years, my test results were always normal. Now they are abnormal and even more puzzling.
Two years ago I had an MRI for eye pain and they found optic neuritis in my right eye and supratentorial lesions that are predominantly located in the deep and juxtacortical white matter. So of course they referred me to an multiple sclerosis clinic, but two spinal taps later – and two years of unchanging MRI's – and I do not have MS. However my ANA at that time was 1:160, and I'd been having chronic fatigue, occasionally red swollen joints, rashes, and other auto-immune symptoms. So they referred me to rheumatology. One doctor knows that antiphospholipid syndrome can cause MS-like symptoms – but my APS panels are all normal. So, two years later and I've had a slew of confusing test results and no more answers.
The reasons I think there is *something* autoimmune going on, although I have no idea what:
*My ANA has been 1:320 for about a year now, was 1:160 for at least a year prior. My auto-immune specialist tested me for every thing she could think of – antiphospholipid antibodies, RA, lupus, sjorgens, all the basics and then some – and every single result I have had has been reassuringly normal. Which wouldn't be a problem if I FELT normal.
*Roughly 6 months ago I started having pain in my right side, right where my liver is. It gets worse after eating but not massively, so my doctor ran some liver and gallbladder blood panels and also an upper right quadrant ultrasound. Ultrasound was normal, but my ALT and ALS were both elevated mildly (low 100's). That has persisted since. The pain has very gradually worsened but is pretty much just constant day in and day out. Waiting on a more comprehensive liver panel now. It is severe enough now that it really bothers me all day and makes being comfortable in any position almost impossible. It's on the front upper right of my abdomen and wraps around to my ribs on the side, kind of right under my right breast.
*Starting 1 year ago I began having problems with my carpi radialis tendons, bilaterally. It has slowly increased – from starting with on and off pain mostly with use. Now, as I have my friend help me type this, I have been unable to use my wrists or hands at all for about 2 months. I can't go to work. It's like all the tendons in my wrists and fingers (especially thumbs) and then more recently my achilles are just constantly inflammed. Yet other than the ANA and liver function tests, my blood and x-rays are unremarkable. My tendons keep deteriorating and new ones are becoming problematic despite my extensive bracing, rest, ice, and physical therapy 🙁 I also have had 3x of bursitis in my shoulders with no known cause. Two of them would not go down without steroid injections, even after months of rest.
*off and on low white count. It's often as low as 3.5-4, but generally sits around 5ish. Not dangerously low, sure, but odd.
*I have a fever, randomly (seemingly) of right around 100.0. Often like 99.8-99.9. My resting temp is 97.8, my doctor agrees my resting temp is generally lower, so we both agree this is a fever. I will have it several days a week for weeks and then be fine for long periods of time.
*The ONLY Time I have improved in the last year overall (rather than slowly deteriorated) was over this weekend when they put me on IV steroids at the ER and then sent me home with a steroid taper of dexamethasone. My joints have not hurt this little in months, and even though my tendons are still awful they are USABLE in ways I haven't had in 3 months. The redness in my joints is gone. The liver pain is unchanged – but they ran my ALS and ALT, and they were normal for the first time in a YEAR after steroids! My tendons in my ankles are worse but I also had PT yesterday so I don't know.
*Random auto-immune symptoms: sores I have gotten in my mouth for years, random rashes, very sensitive to light (to the point that I can't open my eyes outside sometimes and have had to take ubers to class because I am too blind to drive) with no seeming explanation.
*Frequent infections – you name it. Had to have tonsils out for tonsillitis and strep constantly that wouldn't go away with antibiotics. Ear infections. Infected cuts despite my impeccable care for them. CONSTANT bronchitis when I was younger, colds, you name it really. I know this isn't, obviously, diagnostic but along with my low white count it's meaningful to me.
But as I said, all my test results for pretty much every antibody possible, except my ANA, have been negative. Still awaiting the auto-immune hepatitis and a few other rare ones. Can anyone think of anything we might have missed? I'm at a loss as to what could explain the optic neuritis, liver inflammation, etc. All of this seems very systemic, and it has been very painful and disabling. My doctor is a specialist in antiphospholipid syndrome and has really tried to look deeply too but is also at a loss. At this point, it's not like I want to have an auto-immune disease, but I think it's just weird that my body seems to act so much like it has one, and reacts to steroids/medication like it does. Why won't my doctors treat me as if I have one? Is it really impossible for me to have an autoimmune disease with negative test results except ANA? Should I ask my doctors to do an MRI of my tendons instead , or something like that? I've had these pains 24 hours a day in my wrists and abdomen and I'm just so tired of it. 2 years ago I was an independent, mobile college student. Now I struggle to walk with a cane and multiple braces and have multiple concerning, unexplained results. Thanks so much to anyone reading, I know this was long, and thanks for any help you can offer.