Hey Lemmy,
Long story short, I got unlucky. At age 18, I got one of those nasty neurodegenerative diseases that slowly deteriorates the body’s nervous system. Now at age 21, after ravaging my vision, bladder control, balance, memory, heart rate, cognition, and sense of touch, it is now taking over my breathing. My breathing simply doesn’t work during sleep anymore. It slows down and stops entirely before restarting again. I read that this is likely because the disease finally reached the part of the brainstem that controls breathing, and that if it gets worse, it may be fatal. It would appear that I’m hanging on at 1 HP, and the next attack could be the one that does me in. It’s getting uncomfortable knowing that every day is another roll of the dice, because I don’t think mine have many sides left.
I want people to know that life was the greatest fucking thing to ever happen to me. I loved it all, even the parts that sucked, just because I got to take it all in. The highs of joy, the lows of sadness, the good, the bad. People will say “Too bad he never got to live a full life,” but I say FUCK that! This was fucking incredible! This IS a full life because it’s the one I got, and just the chance to experience this universe is so unbelievably goddamn beautiful. You think I’m going to complain when we are basically supercomputers, made up of incomprehensibly complicated microstructures, and we have the technology to experience the richest and most creative worlds other humans have to offer ON TOP of that?? HELL NO! From my perspective, there was nothing, and then there was the most beautiful, intricate, and awe-inspiring light show - incomprehensibly detailed, amazing, and endless. Whoever gave that to me, I just want to say that I fucking love you. Whether it’s God, the creator of the simulation, the Flying Spaghetti Monster, or mathematical soup, there is no string of words in the English language to describe how grateful I am. How the FUCK did this happen?
I’ve been writing a lot recently in a note-taking app called Obsidian. I’m using it to record my thoughts about life and the person I was, because I want to share who I was with my family and the world. See, I was always sort of the black sheep in my family. I often kept to myself because I didn’t always have the best relationship with them. That was all well and good… until now. I realized that once I die, the essence of my personality will instantly be gone, and my family will only remember the boring, inoffensive outer shell that I presented. But I want them to know the real me, even if I think totally differently than them and even if some differences upset them, because at least then they will know what my actual, genuine feelings were. Because I had a whole lot of them.
I also wanted to share them with my Internet friends and the hundreds of people in my community who enjoy my projects. I think it would be really cool if people could browse my thoughts like a wiki (save for a few personal pages for just my family). Perhaps I could use something like Quartz for the site generation and GitHub Pages for hosting? I’d prefer if it didn’t incur cost. As for the notes for my family, I guess I could put them on a USB stick? The only problem is that it could decay or there could be a house fire or something like that.
One thing I’m a bit worried about is the idea that damage in specific parts of my brain could suddenly alter my personality or give me delusions that cause me to delete or remove everything out of some insanity that I can’t comprehend. I feel like I have to physically give my family a copy for them to hide from me in case I become a zombie. But then, what if I want to write more notes for them? Maybe I can have it published to the cloud somewhere and they periodically download it?
I wanted to pose the question here, because I think others might have better ideas than what I’m thinking of right now. I’d prefer something I could do in one day, since I really want to avoid risking more days without this. I just want to write and ideally be able to sync everything pretty quickly. My thoughts will never be complete, but I’ll have much more peace of mind knowing that people will at least see what I have written so far.
Giant essay for context (1 / 2)
You make an excellent point; specialists would be able to give a more definitive answer, and I mustn’t get complacent just because I have accepted this outcome. On the contrary, I think my chance of diagnosis is better this time around. The only issue is, I have to wait for literal months to talk to a neurologist and get more tests.
I have to consider the risk: do I wait for months - that I might not have - to go through the medical system again, and risk leaving almost nothing behind if they don’t catch this in time? Or, do I set this up now, while still doing everything I can to get medical help, knowing that if it’s indeed terminal, I won’t regret the decision I made? I want a lot of time to write about all sorts of things.
My last neurologist ignored half of my symptoms and it took half a year for him to fully rule out his theory, after which point he said there was nothing he could do. He only focused on the full-body pain when I was having vision and heart rate problems at the time and my symptoms were progressing quickly. He diagnosed me with small-fiber neuropathy, which does not explain the pattern of attacks I have, the vision damage, motor symptoms, and it definitely doesn’t explain the cognitive and breathing issues I have now. He did eventually diagnose me with POTS (very fast heartbeat when standing), but that was just one comorbidity out of the sea of unaddressed symptoms. I waited months for a second opinion, and all she told me was to just listen to the first neurologist.
Now that my symptoms have significantly progressed again, I think I have a better chance of getting a real diagnosis, not just identifying my comorbidities (e.g. POTS, neuropathy). The tests you mentioned were two years ago at this point, so it’s possible that a new MRI will finally be clear enough to show damage. The problem is that, again, it will take a long time to verify a diagnosis, and that’s only if it can be verified; it might be too tricky, for reasons I’m about to go into.
The only faster way appears to be the emergency room, and they don’t take too kindly to me being there if I’m not literally hours from death. I had an attack where I could barely move my arms and legs at all for 2 days, and they immediately sent me home even then. This has led me to the conclusion that the emergency room will not see me until I’m already in irreversibly critical condition. Even if I was diagnosed then, it would be too late for me to leave anything behind.
I didn’t go into more details about my condition because I didn’t want to bore people, but I’ll describe it here, because it’s so unusual that I don’t know if doctors will be able to diagnose it in time, and indeed, this might be a big factor as to why I haven’t been diagnosed yet.
It all started when I was working at a restaurant and I was pushing through severe upper back pain (which I developed from overworking myself). Suddenly my arms became weak and numb, and an MRI later would show a herniated disc in the C7-T1 area. This was very scary, but after a week I was back to normal… or so I thought. This is where the weirdness begins. It all started with tingling in my hands. Then it turned into random pain. As I worked more and more, eventually, the pain suddenly jumped, spreading to not only my arms, but also my legs and feet. This is when I knew something very wrong was happening to me. I quit my job in hopes of avoiding further progression.
A couple months later, after carrying something heavy downstairs to help my disabled father, I felt a dull pain in the back of my neck where the disc was. I ignored it, thinking it would wear off. The next day, my nerve pain erupted all over my arms and legs again, but it had also spread to my face and the back of my head. I was in a panic at this point, and my primary care provider informed me that a neurologist would be a 6-month wait.
One thing that brought me comfort was the idea that I just had pinched nerves, according to my mother. I looked up the spinal nerves and the regions that they innervated and thought “Wow, I must have a lot of pinched nerves, but it makes sense since my muscles are in so much pain and I was working so hard.” Applying this logic to the pain I had now would nonsensically imply that nerves directly attached to the brain were somehow being “pinched,” specifically the cranial nerves that innervate the face, branching out from the brainstem. In other words, the pinched nerve theory was wrong. This realization was terrifying and I tried to ignore it, thinking that I just didn’t have enough context. Surely it wasn’t actually in my brain, right? I’m just overreacting! Everything will be fine!
A couple months later, I was taking an exam for college. I was looking straight down for 2 hours, and that familiar dull pain in my neck was back. I dreaded what was to come next. Sure enough, exactly one day later, the nerve pain flared up and spread… to nearly my entire body. Arms, legs, hands, feet, stomach, groin, face, head, neck, even the eyes. They were all in pain nearly constantly. The pinched nerve theory made no sense anymore. Every single nerve root, including some in the cranium, from bending my neck? All comfort was out of the window. This would start a wave of progression that would last for several months.
One day, there was a dull pain in the back of my eyes and my vision suddenly blurred, and nothing I did made it go away. I was panicking from barely being able to see anything. Periodically, the blur would fade in and out, until it stopped. Later that day, I noticed that my vision had gotten darker. It never improved. At this point, I had a new theory: my central nervous system was being attacked by my immune system due to inflammation from the the disc injury. Three weeks prior, I had read about optic neuritis, a condition that causes the blurring and darkening of vision, often leaving permanent damage over the same timeframe. It is closely associated with autoimmune disease. I believed that it could happen to me, and I was correct. However, I did not believe the disease was multiple sclerosis due to the involvement of the disc; there was no record of a physical injury causing MS disease activity. The disease would continue, causing my heart rate to beat insanely fast from just standing (POTS), and making me feel like I had to pee every single minute.
Finally, I got the chance to see some doctors. The neurologists I mentioned earlier didn’t help much, besides confirming that I had POTS. I also managed to convince some ER doctors to give me MRIs, which helped in identifying that this is unlikely to be a purely mechanical problem:
- My new PCP told me that the herniated disc was “touching” the spinal cord and was very suspicious, especially given its link to my symptom progression.
- A spine specialist told me that the disc was not severe enough to cause the symptoms I was having, and that something else must be causing them.
This suggests that the herniated disc is in close proximity to, and at some points may be in contact with, the spinal cord, but would not cause these symptoms on its own. What nonmechanical process could cause such widespread symptoms in reaction to weird things happening in the body? The immune system.
At this point, I knew that anywhere could be fair game. It was horrifying to think about. Among my most harrowing thoughts was the idea that my breathing could become compromised. But maybe I will be fine, I thought.
(2 / 2)
Nearly 2 years passed. I changed my life to avoid ever irritating the disc ever again. My pain very slowly died down, but I gradually experienced worsening memory and got a few new symptoms, like slightly worse balance and feeling random acceleration, but probably nothing doctors could definitively measure. This progression seems consistent with autoimmune activity; these are common symptoms in MS, perhaps the closest, but admittedly imperfect analogue. I felt like I had reached a dead end with doctors and wouldn’t be diagnosed without further progression, especially with many of them telling me to just listen to the other doctors who didn’t help me.
Last month, I got the first flare-up that did not appear to come from my neck. This caused 5 main symptoms all at once:
- The breathing problems described in this post, which gradually got worse over the next few days.
- Completely involuntary large-scale movements. This includes suddenly raising my arms up or sitting up in my bed, without any input at all.
- Auditory hallucinations at night, which include loud whooshing sounds, sudden buzzes, and people talking (including someone saying “Hello?”).
- Random popping, crackling, and muscle twitching inside of my nose.
- Bladder function getting weaker.
At first, I thought the breathing problems were just sleep apnea and I needed to lose some weight. But then, the other symptoms quickly developed. I also realized how clear the breathing sounded, how chaotic my breathing pattern had suddenly become, and how I didn’t seem to be snoring or anything at all (characteristic of obstructive sleep apnea). I realized that this might be central sleep apnea, where the brain fails to control breathing during sleep, explaining its presence alongside the cluster of new neurological symptoms. I then read about how in autoimmune neurological diseases like MS, symptoms like these are associated with mortality due to respiratory failure. This paper on neurological respiratory failure states:
Inflammatory and infectious diseases of the CNS are a very heterogeneous group of diseases that can affect CNS function with different patterns of symptoms and signs. Pulmonary complications are related to an altered breathing control system, severity of associated reduction of consciousness, and involvement of respiratory muscles. Pulmonary impairments have long been recognized as major causes of morbidity and mortality in individuals with advanced multiple sclerosis, due to acute or chronic respiratory disorders. Chronic RF [Respiratory Failure] involves bulbar [brainstem] dysfunction with swallowing disorders, altered central respiratory drive, motor disorders following corticospinal lesions, or sleep-disordered breathing [includes central sleep apnea]. Acute conditions mainly involve spinal or bulbar [brainstem] relapse [flare-up] with extensive plaques, neurogenic pulmonary edema, or ARF [Acute Respiratory Failure], often following sepsis. Common pulmonary-related complications in encephalitis are poor gag reflex, pooling of secretion, and loss of swallowing, with risk of aspiration pneumonia and RF [Respiratory Failure] development.
I added some context in the square brackets.
For more context, multiple sclerosis is not the only immune-mediated disease of the central nervous system, with fast-progressing variants being known to result in death in a relatively short amount of time, often due to brainstem involvement. In the context of vanilla MS, this paper, which cites the journal of Neurology, states:
Deaths due to MS can occur either by acute death due to brainstem involvement or to respiratory failure, or as a consequence of chronic disabilities leading to bronchopneumonia, sepsis, urinary tract infections or complications from decubitus ulcers.
So, there is precedent for this kind of process being fatal, with specifically brainstem and respiratory issues being a common cause. What matters is progression speed and location, and I already have significant progression and directly compromised breathing.
Think about if this was you for a second. There’s a process that’s taking over your nervous system, giving you permanent damage, and now you suddenly have a new cluster of symptoms, more than half of which cannot be explained by anything other than brain dysfunction. (Where is the data for these coordinated muscle movements and sound effects coming from?) And now, your breathing at night is chaotic, randomly slowing down, speeding up, and stopping, followed by sharp inhaling. Sometimes you breathe in or out twice in a row. And you now know that your disease is unpredictable and progression happens no matter what you do.
Now tell me, in the context of all of this, would you be comfortable waiting several months for a full workup by a specialist before preparing for the possibility of death, when you know your disease is weird enough that they might not figure it out in time? Would you risk sacrificing your only chance to pour your emotions out on hundreds of pages and let everyone know how much existence meant to you, how amazing it was, and all of the deepest and emotional things about you? Would you make that bet? You may never have the luxury of knowing, and the disease will continue on no matter what; it doesn’t care about the months you have to wait for doctors.
It’s not about the theory being right; it’s about it being possible. My arguments and theories are not perfect, and you could logically break them down in many ways. You could say that I don’t know for sure that it’s fatal, and you would be right. But that’s not what matters here. Even if there is a 90% chance that I am wrong, that 10% chance I’m right is too high to risk losing the chance to leave my legacy. I will not be taking that bet.
I completely understand your point; a definitive diagnosis will always be better. And I am indeed pursuing multiple paths:
- Trying to get a neuro-ophthalmologist to confirm optic nerve damage.
- Doing a sleep study to measure what happens to my breathing patterns and oxygen levels when I fall unconscious, as well as having a sleep doctor assess the unusual patterns.
- Trying to get a new neurologist to assess the condition, hopefully ordering new MRI scans and/or a spinal tap. I suspect that I am at the point where the damage will be radiologically significant.
All of these will take months to get appointments, resulting in the current dilemma - that I might not have the luxury of knowing in time. If I am correct about the risk and neglect to preserve my legacy, the price will be astronomical.
I don’t want to give people the impression that I’m about to do something reckless or completely give up on seeking help. I am also prepared for the scenario where I miraculously survive. I’m not going to refuse emergency medical care or end things early, if that’s what you’re concerned about. You’re right that the fatalistic attitude can get too carried away and I should always challenge those biases so I don’t miss something. I’m just not getting my hopes up in case things go badly.
My desire to set this up quickly is just a result of me being uncomfortable with the odds of every passing day, not an indication that I intend to do something drastic. I just want the peace of mind that people will see my writing. Perhaps I hadn’t made it clear earlier, but I plan to write for a long time about all kinds of things, for pretty much however long I have left, building a larger and larger collection of pages.
I appreciate the comment and your concern. Sorry for the whole essay, but I felt like the context was necessary.
TL;DR: The entire history of my disease is highly unusual and I’m not optimistic about the efficacy of the medical system to diagnose it in time. I will, however, continue to seek tests and diagnosis in whatever way I can. Basically, there is a very unusual reaction to a herniated disc touching my spinal cord, causing widespread and prolonged phases of neurological damage. In early stages, the disease flared up in response to pressure on the disc, but now, I am getting flare-ups with no apparent physical cause whatsoever, suggesting a runaway process. A spine specialist told me that the herniated disc itself cannot be responsible for this kind of widespread damage, suggesting a different process. I believe that this process is an inflammatory autoimmune reaction.
I won’t do anything drastic. The reason I’m worried about setting this up quickly is peace of mind; I want to know that even if the worst happens, people will be able to read my writing. I plan to write extensively, for as many days as I can, to capture as much of my life as I can.
I will pursue expert opinion as best as I can to finally get a full diagnosis, but I don’t know if I will have that privilege due to the sheer amount of time it takes. In the meantime, I am forced to work with uncertainty and my own non-professional analysis, which, although supported with a couple of doctors’ opinions, is still theoretical at this stage.
However, I was able to predict symptoms and aspects of my progression in advance, and, even if there’s only a small chance that I am correct, I consider the risk too high compared to the price of losing the opportunity to share my genuine self to my family and the world. I remain open to the possibility that I could survive, but I want to prepare for the worst case, because I feel like if there’s any sign I should prepare, it’s the chaotic and disorderly breathing that I developed last month, a symptom that, according to medical literature, may progress to life-threatening complications in the context of inflammatory neurological disease.
