Disappointing Diagnosis update
TLDR: I have EDS and what looks like cataplexy, but lumbar puncture shows normal orexin levels, ruling out N1. Has this happened to anyone else? Any ideas?
Hi all,
Some context:
In 2023 I started getting EDS and sleep attacks, falling asleep in all my lectures, then at work every day, and in a lot of other places. I also have dreams during my short 5-min naps and hypnagogic hallucinations.
In 2024 I started having falls. They started out just being my legs buckling beneath me, took 2 minutes to recover to be able to stand, up to 2x a day. No obvious triggers so Neurologist was unsure. Then they progressed to full body muscle tone loss, still lasting between 2 minutes and 7 minutes. Triggers became more obvious, including anticipation, surprise and excitement. Sometimes it does happen without a clear trigger though. Happens up to a 12x day. Consciousness is not affected. I do appear to have milder episodes where just my hands or jaw gets weak. Neurologist then suspected cataplexy.
After sleep apnoea was ruled out, I was referred to sleep neurology in late 2025 and had my spinal tap in February. Today I got the results: orexin over 200. Not suggestive of N1.
I'm in shock. I was so sure. And I was so hopeful that I could treated and my symptoms would improve. I have to wear head protection all the time because I keep hitting my head, and I use a wheelchair because walking is so unsafe. My sleepiness makes everything so hard, I have my uni finals next week and its affecting my performance so much. Now that hope is gone.
I have been referred for MSLT to check into N2 or IH. But the waiting list is long, so I don't know when that will be. Probably not this year. I won't be able to try treatments before then most likely.
As for the falls.. If it is cataplexy, how is this possible? Has this happened to anyone else? If it's not cataplexy, what is it? My cardiologist has already rules out cardio causes with tests, and spine MRI is normal. I'm at my wits end here. I will be contacting a narcolepsy charity for advice, but I just wanted to ask here to see if anyone had any advice or ideas going forward?
Thanks for your time. Hope you are all as well as possible.