- CASE FILE
Narcolepsy, TL-Epilepsy, essential tremor, POTS/dysautonomia, Reynauds disease, nystagmus, venous insufficiency & MAYBE autoimmune disease?
ABOUT THIS CASE FILE
Synopsis: I’m a 34 year old Caucasian mother of 4 of average height and weight. I have diagnosed Narcolepsy, TLE, essential tremor, nystagmus, Reynauds disease, venous insufficiency, and an undetermined/possible autoimmune disease.It’s very difficult to differentiate which of my symptoms are due to which diagnosis’, and most of my doctors aren’t sure that my current diagnosis’ are all actually correct. A lot of my symptoms, like my sleep issues, began in my late teens and twenties, but my health has been rapidly declining over the past 5 years to include a long list of symptoms. I have seen my PCP, a cognitive behavioral neuro, epileptologist, sleep specialist/neuro, a cardiologist and 2 rheumatologists. They say that some of these diagnosis’ may be correct, and others not, due to a lot of overlapping symptoms it’s difficult for them to tell as well. No diagnosis fits 100%. I want to know if all of these diagnosis’ could be correct and that it’s true I’m just getting more conditions over time, or if there’s something larger and more all encompassing at work.
Testing: I have had MRIs that just show subcortical white matter hyperintensities on t2 flair weighted imaging but otherwise normal. I have had several abnormal eegs showing sharp waves and focal slowing in the fronto-temporal lobe. I have had sleep studies showing disrupted nighttime sleep, no sleep apnea. I’ve had an MSLT showing an 3.1 minute sleep latency for all 5 naps, but no SOREMs (but with a family history of Narcolepsy, they still diagnosed me, technically borderline hypersomnia/Narcolepsy). I’ve had EKGs showing only that 2 of my heart valves regurgitate, no other issues. In my teen years I saw an ortho and was told I had carpal tunnel and osteoarthritis that would worsen overtime (my pcp thought i was too young for these diagnosis at the time but we didn’t probe further). I also went to an Er at one point with what was decided was Bell’s palsy, only after my epilepsy diagnosis to be told it might’ve actually been a seizure. I’ve never had any daytime grand mal/tonic clonic drop seizures at any time in my life. My epilepsy diagnosis was made based on 2 nighttime events (that could’ve been sleep paralysis episodes) and ambiguous symptoms like deja vu and one sided head tingling, combined with abnormal eegs. No epilepsy meds have helped. Seizures deemed “intractable”. I can’t even tell u what a seizure IS for me.
Symptoms: Lately my most bothersome symptoms are extreme sleepiness and exhaustion (obviously), acid reflux, difficulty swallowing (choking on water/food), frequent hiccups, joint pain (especially hands and feet), swelling of the hands in the morning, tight skin on hands, arms, legs, feet, and chest, spotty skin (discoloration-White spots and brown. Also red telangiectasias), scarring over the knuckles, my hands go weak for a moment and I drop things, occasional fluid retention in the legs, random increases heart rate/palpitations, hot flashes (flushing of the face), numbness and tingling on one side of my scalp, muscle spasms/fasciculations, myoclonus, joint instability (knees click, shoulders slip in and out of socket), sleep disturbances (I will wake up hyperventilating in the middle of the night with a rapid heart rate and sometimes I can’t respond to people for a moment, this is what sparked the epilepsy concerns after apnea had been ruled out) and extreme temperature dysregulation where I’ll be sweating and feeling weak but I’ll take my temperature to find it’s extremely low, about 92-95 degrees and I’m hypothermic.
Conclusion: My joint pain & muscle jerks, temperature, GI and skin issues are the most bothersome. I’m also afraid I might die in my sleep but that could be a completely separate issue to the autoimmune stuff. Any ideas?