Cysts and Sleep Cycles

   It was the summer of 2013 and that meant it was time for another year of camp. My sleeping situation was far less than optimal so this year I decided I would apply to be one of the Heads of Environmental Programming. Our camp had chickens, sheep and rabbits and we'd harvest the chicken eggs and vegetables as part of the job. The reason I chose this job despite my my love for having kids as a counselor is because the schedule is far more flexible and there's less legwork. I got a little stool that I would sit on while gardening and was less tempted to try to chase after kids. It still wasn't easy though, because sometimes I would sleep in all the way until 2 pm. To harness this we essentially said I was in charge of the gardens and animals in the afternoon and my co worker was in charge for the morning. With this system and my less stressful job I was able to get through the summer without too much difficulty. The only snag I ran into was getting stung by a wasp and then over the next hour realizing I was allergic with anaphylaxis. My tongue slowly started swelling in size and my throat started closing (according to the doctor, not just me.) The nurse used an EpiPen on me for the first and only time. Interestingly enough, the allergen tests I did afterwards all came out negative.

  Although camp went well, the following months did not. Not very far into the school year my sleep stopped becoming anything even close to resembling restful. No matter how long or how little I slept, I would wake up exhausted. I could either nap to feel better but make the problem worse or go completely insane from sleep deprivation. I tried both and neither worked. My doctor tried many things as well, alternating with every medication we could think of. Nothing even made a dent in my problems. It took hours to fall asleep, and when I did fall asleep I woke up throughout the night. If there's one situation where you're most likely to lose your mind it would be lying awake at night for hours for your sixth month in a row. Eventually my sleep specialist ran out of ideas and suggested I see a new doctor. Since I was seemingly out of other options, I did so and never saw that original specialist again.

   My new sleep specialist is considered a world class expert in the field. He took one look at me and decided we needed to do a total overhaul. I would put school on hold for many months while we worked on making my sleep restorative (this was one of several factors in how I fell so far behind my age group in school.) He said the way to do this is through sleep restriction. I was still waking up at 2 pm, so he told me to set my alarm for 8 am. Obviously this was very brutal for me and I spent many months exhausted as we worked on shifting my sleep schedule. I felt too crappy to spend my time hanging out with people. Even reading and playing games took too much energy. I pretty much alternated between watching movies and banging my head on my desk repeatedly. This was also a period of time where I drifted away from many friends. I learned that the phrase "use 'em or lose 'em" applied to friends as well. Eventually my sleep schedule did indeed shift. Instead of waking up at 2 pm without an alarm I woke up at 11 am. The problem was I couldn't function at 8 am but if I got up at 11 I wouldn't be able to fall asleep on time that night because the pain made it so I could only fall asleep when completely exhausted. My neurologist wanted to see if there's a fixable problem that is the source of my pain so I got another spinal MRI. The MRI showed some Tarlov Cysts which are associated with EDS. They were really small at the time and so unlikely to be symptomatic but they do often grow, which gave me yet another thing to worry about.



    Although the source of the pain wasn't a cyst, we were still determined to try to treat that pain. Unfortunately, all the pain pills we tried were either completely innefective or were slightly effective but had unbearable side effects. My neurologist wondered if medical marijuana might be a potential solution (relatively little side effects, good pain reduction) and so he referred me to another doctor who is a cannabinoid specialist. He would asses me and determine if I'm a good fit for a prescription of medical marijuana, something I purposefully have never partaken in before. I thought it would help my case if I didn't come off as someone who was already as stoner, which I wasn't anyway. It was something I wanted to try to help my pain for awhile and my patience had finally been rewarded.

The Truth

    Even though no one had as of yet diagnosed me with EDS I knew I had it. The puzzle pieces fitted together too perfectly. I knew it was only a matter of time until the diagnosis came. The first thing my new neurologist did after we told him our thoughts on me having EDS was refer me to a geneticist. There they preformed what is called the Beighton Hypermobility test. They had me stretch in many different ways to text my flexibility. 
    The results showed I had enough 'points' to be considered slightly hypermobile, but that is a bit misleading. One part of the test involved trying to touch your toes. This is something I am flexible enough to do but the pain from doing so is what limits me and so they took that into account. Based on my history, hypermobility, and symptoms, the geneticist clinically diagnosed me with EDS. This means based on what she saw it is her professional opinion that I have this disease.  To be more confident with this diagnosis I was sent get blood tests. Even if she thought I had EDS, we wanted to figure out what kind of type it was. There are many types of EDS but the vast majority of sufferers are afflicted with three main types. These are the vascular, classical, and hypermobility types. The hypermobility type was the most painful of these but the least dangerous. It affects the joints the most and is the most common type. People with this version of EDS are typically very flexible.

    The classical type mainly concerns one's skin, they have stretchy fragile skin that tears easily. The vascular type is the deadliest, for half of those who are afflicted by it are dead by their 40s. This is because it weakens your cardiovascular system including your heart and arteries. The tests I had done showed I had a gene that can be associated with the hypermobility type of EDS. While this was reassuring, (having the vascular type would mean I'd live a very short life) we still didn't have a definitive diagnosis. To remedy this, the geneticist referred me to a dermatologist. It was time for me to get a skin biopsy.

   The skin biopsy entailed me lying on my stomach while they cut a small piece of skin off my lower back. They used local anesthesia so it didn't hurt much. A few weeks later I went back to hear the results. The doctor showed me microscopic images of my skin and these images demonstrated major deformities of much of my skin fibres, which are important for maintaining the strength of your skin. As a consequence of this my skin gets cut really easily, making tasks like shaving difficult. My skin fibres were deemed to be in the shape of cauliflower, which is a classic sign of having the hypermobility type of EDS. I had so many abnormally shaped fibres that the dermatologist considered it to be a definitive diagnosis, which is a very uncommon occurrence for the hypermobility type. Upon hearing this news I immediately broke into a huge grin. I finally caught what I've been chasing all these years: the truth. The truth is that I had the Hypermobility Type of EDS, an extremely painful and incurable disease. So while I may live a long life, it will also be a very painful one. This wasn't easy to accept but still, I finally knew.