Living Outside the Mean - The Complexity of Identifying Rare Disorders

I was diagnosed with idiopathic hypersomnia and probable narcolepsy when I was in my 20's. Then I was hit by a car, discovered I have Ehlers Danlos (hEDS) and developed a whole host of autoimmune and inflammatory disorders, as is common with hEDS.

The invisible struggle with idiopathic hypersomnia

falling asleep at work, failing to remember projects I was working on, needed direction over and over and still not getting it. I was a top 4 systems integrator consultant and my performance went from stellar to tanking hard. I fell asleep in the middle of sentences talking to my boss.

I slept on my lunch hour and before driving home, and sometimes even that wasn't enough. My husband would come across town to get me because I wasn't safe to drive.

When muscle failure overtakes the body

In addition, I was having episodes where my muscles would progressively get hypotonic. Sometimes it happened fast and I'd drop like a rock. Other times it would creep up over hours.

It was definitely related to exertion. And rest helped, but it would recur if I got back up and kept going. My muscles would go slower and slower and stop.

Only hours of sleep reset my body. I would have trouble moving even using arm crutches and sleep for 3 hours and be fine.

My muscles would start to fail in my thighs, then my arms, sometimes my neck and head. I stopped martial arts when I started going backwards rather than progressing.

I gave up my horse when my legs would start flopping around outside my control and even grooming was causing the symptoms. I gave up playing soccer with my coworkers after I had to crawl off the field twice after resting enough to be able to move.

I gave up walks when I got stranded and had to call my husband to help me get home. It was bad.

Dismissals, dead ends, and medical gaslighting

I went to a sleep specialist at Mayo and worked with her over a year. Ultimately, she didn't provide any medication support or even a diagnosis other than circadian rhythm dysfunction. She said I had too many disorders and too much medication that could make me tired, despite the early diagnosis.

I was so frustrated, because I was realizing that I couldn't continue to drive so far. I was having to pull over at gas stations - drink 1/3 a monster, take 2 caffeine pills, sleep for 20 min and re-evaluate. It was that bad. I was microsleeping on the way to work.

One day I had over 1600 mg of caffeine within 1 1/2 hours and was still microsleeping on my way to work. But I couldn't get any help. It was terrifying and so very frustrating. One doctor actually had the audacity to tell me to drink more coffee.

None of the doctors I talked to about it took it very seriously, I don't think. Not until I finally got a video of it for my neurologist.

Then I had to make the rounds of the Parkinsons' clinic, epilepsy clinic, and finally the neuromuscular clinic. No one really knew what was happening, just that they didn't think it was in their wheelhouse. I was told for the 5th time that it might be conversion disorder, which had been ruled out by 4 different psychiatrists. It was immensely disheartening. But the neuromuscular doctor had suggested another (4th) sleep study. And that's where it got interesting.

I am autistic, so I can think I've explained everything well, but have left out a ton of stuff or do an infodump and give the doctor a firehose of information that is difficult to sort through. It's 28 years of information. That is a lot to compress into a coherent picture, especially when I am so very tired all of the time. For the first time, I turned to AI to see how well it would work in this scenario.

I dumped all of my symptoms and relevant diagnoses and was given some suggestions for the doctors and conditions that could be relevant, and one of them was cataplexy, which I found weird.

I always knew of cataplexy as a sudden emotion causing you to collapse on the floor. Very brief. It happened to me once when I was much younger.

Uncovering the reality of atypical cataplexy

I had never heard of atypical cataplexy. I did find one research paper where the person had exertion based atypical cataplexy and saw that it can last for hours, although that is rare. Blew my mind. I never connected the sleepiness to the collapsing other than I felt an intense need to sleep that got stronger as it progressed and that sleep is what helped it reset. But I'm ALWAYS sleepy.

I had AI give me a summary of the information I had provided in a format that a doctor would find relevant, which it did exceedingly well. I provided the doctor with a brief summary and a slightly longer, more detailed summary and he said immediately that it looked like either atypical cataplexy or status catalepticus and said that would move the needle closer to narcolepsy.

The reason I was previously dx'd with IH, rather than narcolepsy, is because my MSLT didn't include REM sleep. It was abnormal. 5.6 in my 20's and 3 now. Significant sleepiness. I also had 2 of the genetic markers that they looked for, including the 0602.

A new treatment plan and hope for the future

He wants to put me on a med, which I will likely start in August, and take if I can tolerate it and if I can be roused to care for my Mom during the night, as she is full care.

It's the only option for me, because I have severe allergies that limit the medications I can tolerate. Fingers crossed it works for me, I can tolerate it, and I can still provide care for my Mom. That's a lot of ifs, but Im hopeful for the first time.... well, a long time.

28 years to dx. My symptoms of collapsing started 5 years after IH was dx'd.

People who exist outside the mean statistically, we are invisible. If we don't say the right words, have the right emphasis, aren't upset enough, then they discount the severity.

Now I lead with my autism dx and explain that I don't get upset. I've had it a long time. It is severe. It is life restricting. And now I have the video to show that it gets quite bad. The video isn't even as bad as it gets. I can go from no assistive devices to crutches to arm crutches to barely able to walk even with that support in 2 hours. Because I am sitting on my fanny on the way to the doctor's office, they don't see it.

It has been a long, frustrating journey. Hopefully the new med really helps and I can live a more active life.