Sorry this is so long, but I am about at my wit's end right now. I am frustrated, pissed off, and starting to be frightened of long term disability with no diagnosis. I need advice on what to pursue next with doctors.
I have been dealing with autoimmune-suggestive symptoms for 5+ years without a concrete diagnosis, but things have gone completely off the deep end in the past year. I feel like doctors have been completely unhelpful with my latest worsening of condition; they keep shrugging and referring me back and forth, or telling me it's in my head or that I should try anti-depressants. I have no problem with antidepressants and would be happy to try them if my main problem was depression. I've had a couple of episodes of clinical depression, but not for about 16 years, and what I currently am dealing with IS NOT DEPRESSION. And I really doubt doctors would keep bringing it up if I were a man.
First of all, I have a longstanding confirmed endocrine disorder of reproductive hormones/insulin, which has been diagnosed using all available criteria and has been well controlled with diet alone for many years. One of the side effects of the disorder is reactive hypoglycemia, but I have not had issues with that since shortly after diagnosis unless I eat poorly (rare). I don't think my symptoms of the past 5 years are due to this disorder.
I have longstanding mildly elevated prolactin and pituitary imaging shows no obvious gland enlargement. Back in the early 2000s, on very strong urging from a reproductive endo, I treated it with medication but had a hard time tolerating meds and eventually quit (possibly a mistake). Since then prolactin has gradually risen back to previous elevated level, but my current endo insists it is not high enough to be of concern. The symptoms listed below started about 1 year after I stopped treating the prolactin, so it's possible there is connection.
I've suffered from life long chronic joint/muscle pain and severe headaches (which I guess are migraines) that come in spells lasting from 18-24 hours to several days. Feels similar to onset of severe flu...tendons snap, joints grind, muscles ache, and migraine like headaches will progress to puking stage rapidly unless I knock them back with pseudoephedrine/otc painkiller combo. Particularly bad pain episodes resolve with opioid like high and euphoria that lasts several hours. My chronic pain pattern seems similar to fibromylagia or mysofascial syndrome, improved with regular exercise, worsened with barometric changes and hormone fluctuations. Pain issues have worsened in frequency in past 4 or 5 years.
I suffered from IBS like overactive touchy digestion since adolescence, as well. Mother's side of the family tends to have this. I tended to be hungry all the time, as well, but not problematically so. Never had a real weight problem, but gained weight if I ate junk or didn't pay attention.
About 5 years ago, a bunch of new symptoms started within 3 months of each other.
1) Mild gastrointestinal infection involving about 2 weeks of acid reflux, mild nausea, diarrhea, etc. Resolved on its own, but since then, digestion did 180 degree switch to super slow with little peristalsis and chronic constipation. I already eat high fiber, so this just results in me being bloated about 85% of the time. Tried supplements, exercise, cutting out my typical daily wine with dinner, different kinds of fiber, with little improvement. Main effects seem to come from hormones (high progesterone makes it worse).
2) I had been very sedentary and when problems started I began consistent light 20 minute aerobics and walking. Did not help digestion much, but did precipitate or exacerbate problematic weight loss...despite trying to combat weight loss with less aerobics and higher liquid calorie intake (healthy fats, etc), I dropped from the higher end of my healthy weight to underweight, and have struggled for the past 3 years to maintain >100 lbs. Simultaneously, I have been gradually losing muscle mass in torso, shoulders, hips, and thighs. I'm already lightly built and I periodically try to combat muscle loss with light weight training with limited success due to pain issues and tendon injuries, probably associated with chronic pain issues noted above.
3) Simultaneously, developed chronic urinary tract infections, or infection-like symptoms. Labs sometimes confirmed active infections, but could not culture bacteria. STDs and fungus ruled out. Kidney panels normal and kidneys looked normal on 2 different scans. Occasional white blood cells or trace blood in urine, even when asymptomatic. Suspect the ~12 rounds of antibiotics over 5 years, might have resulted in FURTHER health issues now. Recent diagnosis of extremely narrow eurethra, so possibly uti symptoms were just caused by physiology and not related to my other problems.
4) Simultaneously, I began developing rashes. Shingles-like stinging plaques erupting in lines up the back of my calf, psoriasis across chest and stomach, etc. Keratinitis on my back. I had never suffered from rashes in my entire life, and now they come and go with seemingly no warning.
5) Simultaneously, I began to experience 'electric current' type tingling in feet and calves. Episodes initially associated with pain flares/headaches, later occasionally other times. Almost always at night. No sensation in hands or arms.
6) Began to also experience stinging/sunburn parasthesias of the torso and chest, occasionally extending to back or scalp. Occasional flush, but no rash associated with this. This was always confined to daytime.
7) Voice began to crack and go hoarse easily. I stopped being able to sing easily, and could not really yell anymore or talk loudly without getting hoarse.
So, after about 2 years of this, I requested a basic autoimmune panel, thinking I was obviously hypothyroid. But thyroid hormones were normal. ANA and RA were negative, and when we did an MRI of my brain looking at pituitary, there were no signs of Multiple Sclerosis.
So I lived with it a few more years, and began to attribute to perimenopause.
Standard physical workups over the next 3 years showed occasional mild neutropenia, elevated prolactin, and LOW alkaline phosphotase (unusual). Eventually, my endo followed up thinking I had a rare bone disorder, but nothing definitive turned up (nor did I have symptoms consistent except for the joint pain).
Follow ups for chronic lower back pain finally confirmed scoliosis of the lumbar spine (moderate, but enough that I figured that might be contributing to digestion issues, pain, and possibly foot tingling).
A) Then last summer, I began experiencing occasional sharp pains the back of my eyes, esp the left. Eyes became sore and red, which I thought might be allergies. Vision in my left eye went suddenly wonky: transient black 'splatter' began to appear in vision whenever I move my gaze. Seems worse during exercise or when I'm very hot. Opthomalogist could see nothing structurally wrong. A second MRI of brain and optic nerves came back normal.
B) Simultaneously, I began to experience occasional episodes of racing heartbeat. At first, I thought they were anxiety attacks, but they seemed to occur randomly and not associated with active worry...including waking me up at night.
C) Hair began to fall out in massive chunks...like I've taken a week whacker to it. Dermatologists checks iron levels, syphillis (HA!), ANA antibody for dermatoid lupus, vitamin D. All normal. Bioposy confirms autoimmune alopecia. Several months of steroid injections do nothing.
D) Noticed flesh around my eyes suddenly darker and puffy (bags). Unusual for me.
E) Muscles began to seem weaker, but inconsistently. I attributed this to my thinness and lack of weight work and began again to try light weights, trying to build condition up. Not much progress, further aggravation of joint, tendon, and muscle pain. Very discouraging. Xmas 2017, I strained/separated my left (weaker) shoulder, and more or less immobilized it to allow healing. May have strained nerves and this has contributed to left arm/hand weakness and occasional numb/cold sensation.
Just after Xmas, both husband and I get what appears to be mild upper respiratory infection that seemed to resolve in about a week.
F) Jan 22nd all hell broke loose. Woke with severe pain and stiffness in neck and left shoulder. Vision in right eye went wonky in exactly the same way as left eye last summer (transient splatters with addition of transient white vertical line). Severe electrical 'current' sensation flaring up at night, as if someone was running a current through my body from feet to scalp, buzzing sensation lasting hours, and coming occasionally during the day as well. Severe episodes of racing heart. Initially, I thought this was a ministrokes, but my pupils reacted identically, and I could always talk, move all limbs, face, etc, equally. Reflexes ok.
Within a couple days I experienced sudden onset of muscle weakness, tremor, and in-coordination (trouble manipulating hands, even typing at times), trouble squatting/lifting arms above head or extending arms forward, especially on left side....knees feel weak and wobbly, balance impaired. It felt exactly like severe hypoglycemia, so I bought blood sugar monitor, but weakness episodes did not always correlate with lower blood sugar.
Initially, I suspected Guillain-Barre, but the weakness pattern was wrong and did not progress like G-B.
I went to my GP around 1 Feb. He could not id practical weakness (I was having a more 'normal few hours'). He ran basic blood work with thyroid hormones (all normal), and referred me to neurology (a 2 month delay for new patients). Within a couple days, I developed new symptoms: severe dry cough and chest pressure (not exactly pain, but disconfort around my sternum and in my lower throat area). No problem swallowing but left side didn't feel right.
I felt sure this was a flare of Grave's disease (hyperthyroid), which my mother had. It would explain all symptoms, including eye swelling, and lower throat upper chest discomfort. But my endo dismissed this, saying my thyroid felt normal and my TSH was normal. He showed no interest in doing a thyroid scan, but reluctantly agreed to run thyroid antibodies.
Grave's disease antibody came up 280% of baseline.
But endo insisted that since my TSH was normal range, my Grave's could not be active enough to be causing symptoms. He attributed my obvious tremor to anxiety or depression, or a neurological problem, and said I should take an anti-depressant etc
In consultation with my GP, I decided to try a very low dose beta blocker for racing heart and tremor (this would be prescribed for active Grave's disease in any case). Took it for a month, found that it helped with heart episodes, and mildly with tremor, but not enough to make a big difference. I stopped taking it after 1 month.
Saw the opthamologist (again) and (again) he could see no problem with my wonky right eye or explain my vision problem. He agreed that low stage Grave's eye disease might cause swelling, but couldn't figure out why it would cause 'splatter' effect.
Began to experience severe muscle twitches, that would last for hours or days, migrating round body from foot sole to bicep to eye lid to scalp. Also began to experience stiffness and cramping in both calves.
At end of Feb, with no improvement in chest/throat, dry cough, I went back in to see GP, who ordered ekg (normal) and x ray (normal). She diagnosed pleurisy brought on by whatever else I had. She prescribed a week of steroids, which I waited to take until after neuro appointment. When I did take them, they did nothing to reduce chest discomfort or cough.
Gradually, symptoms began to lessen, with flares still happening, but slightly less often. Occasional stretches of 2-3 days with no or minimal symptoms. Normal strength and coordination, minimal tremor, minimal coughing. Followed by flares of one symptom or another lasting hours to days.
Finally got in to see a neuro (young, intern I think). I was careful not to bring up horrors like ALS, Parkinson's, etc, since I'm sure they deal with that sort of neuroses constantly. I said I thought that if the cause was neurological, it was most likely autoimmune, and that of the likely autoimmune options, I thought we should check for myasthenia gravis and polymiositis (muscle inflammation). She agreed and had no further input except to say that it couldn't be multiple sclerosis, since I'd had two 'clean' brain MRIs in 5 years. I did not argue with this (though I've never had a spinal tap or MRI, and so I don't think MS is completely excluded). The neuro insisted that my symptoms were almost certainly due to Grave's disease and that my endo should be dealing with it. She said I should try antidepressants WTF.
So essentially, both specialists think the OTHER department should be diagnosing/managing me. Terrific.
The bloodwork for muscle inflammation and myasthenia gravis came up negative.
2 weeks ago, I popped a massive new sort of rash all over my torso (based on googling, it appears to be a rash of unknown etiology called pityriasis rosea, possibly triggered by virus or bacterial infection).
I have another appointment tomorrow with my GP. At this point, I am at a loss as to what to pursue next or what to suggest. I'm sick of doctors acting like this is in my head. I'm unable to consistently even walk for exercise, or even to be certain of doing household chores when I have 'flares's.
Here's what I know:
I have 2 confirmed autoimmune things: Grave's disease antibodies and autoimmune hair loss.
I also have elevated prolactin, which can act as an autoimmune stimulator.
I have a rash that could be virally triggered, or autoimmune-triggered
Blood work has show intermittently elevated B6, which can be nerve-toxic and could be causing some of my tingling and parasthesias, though probably not my muscle weakness and tremor. Neverthless, I have stopped my once per week B-complex and all other vitamins except D with calcium a couple times per week if I haven't gotten any sun.
I definitely do not have myasthenia gravis. I most likely do not have autoimmune muscle disease, unless the flares are coming very infrequently). I have normal TSH and free T4 at the moment.
Chest X ray indicates I (most likely) don't have lung cancer, pneumonia, sarcoidosis, or tb.
What the hell do I pursue now?
Am I having periodic thryoid inflammation dumping hormones that my blood tests have missed? Could I have throid nodules (which an x ray wouldn't have spotted)? Why is my chest cartilage so damn inflamed (it's been 10+ weeks at this point). Why does my voice keep cracking and going hoarse and why doesn't anyone care? Should I go back to neurologists and request a spinal mri and tap? Or is multiple sclerorosis truly unlikely given the clean brain mri last summer (prior to all these recent symptoms?). Could this be a systemic viral infection of some sort, like mono only with different presenting symptoms? Could it be metabolic, like Addison's? Could it be an autoimmune vascular disease or connective tissue disease, presenting weirdly?
Should I request a referral to a rheumatologist?
I mean, seriously, wtf should I look into? I'm already looking to get a different endo.
So much money spent since Xmas, and so few answers! I'm sick of being sick! I can take a very bad diagnosis at this point, as long as I know what the hell is going on and what to expect! The uncertainty is horrible.
Sorry that was long, I needed to vent