What's up with Brians' health?
Hi, if you've landed on this page while looking for boatbuilding information, please click any of the links above to get to that sort of thing. This is a (mostly) unlinked page I created to put all the information about my health challenges in one place so I can refer friends, family, and medical personnel to a single resource rather than having to explain the same things over and over. This isn't a cheerful story and I'll be sharing a lot of things here that I normally keep out of the public view, so again, if you aren't actively interested in my medical situation, there are plenty of great boatbuilding pages above!
I've structured this information in three tiers of complexity so people can choose how deeply to dive into my story. The first is just an account of what it's like to live for a single day with the illness. The second is a highly condensed explanation of my history and current level of technical understanding of the illness. The third is a more comprehensive history of how this has all evolved over time. There is some fairly complex medical stuff here, but I'm going to try to keep the language simple. If you think you can help in any way, feel free to reach out. Note: if you have trouble reading this you should be able to cut and paste it elsewhere. There is no way to make this page white without turning the whole website white.
I've structured this information in three tiers of complexity so people can choose how deeply to dive into my story. The first is just an account of what it's like to live for a single day with the illness. The second is a highly condensed explanation of my history and current level of technical understanding of the illness. The third is a more comprehensive history of how this has all evolved over time. There is some fairly complex medical stuff here, but I'm going to try to keep the language simple. If you think you can help in any way, feel free to reach out. Note: if you have trouble reading this you should be able to cut and paste it elsewhere. There is no way to make this page white without turning the whole website white.
24 hours of living with an undiagnosed metabolic illness
One of the biggest challenges of living with a severe chronic illness is trying to communicate what it's actually like. I think of myself as a compassionate person, but before I got sick people dealing with chronic illness didn't make much of an impact on me. I would listen patiently and express sympathy, but without any bridge of shared experience, there was no way for me to understand that the person saying "Lyme disease is really tough" was actually describing an endless tortured life shattering agony while I was imagining mere frequent discomfort. I think there is a part of us that just can't absorb the intensity of suffering that we can't see. Unless you've experienced it, you can't understand just how sick a person can be and still appear normal. This is especially true for metabolic disease where a person may actually be somewhat well, until they get cold, forget to eat, or go for too long of a bike ride. This is my situation, and before we get into any medical jargon or personal history I want to bring you along for a single day in my life.
Tuesday Feb. 19th 2020
I feel terrible in the morning, but it's a good day. I didn't have nightmares last night, my urine is a normal color and smells normal, my bowels work and my skin tone is good. It's been a little warmer lately and keeping the house at 77 degrees at night makes a big difference as well. By 10am I'm done answering work emails and it's time to head to the shop where I've been working on the latest kayak design. I feel relatively sharp today, not smart like I used to be, but sharp enough to work, and relatively happy. Liz follows me with the camera, and we set up the lighting and microphones. Most of our filming is short clips of various parts of the final adding of accessories to a new kayak design, but because I'm feeling well enough to speak we do a short video about a new coating process for the wooden paddles. The first take is really good, I'm articulate but I made a mistake in explaining something, so we try again. This time I start to stumble verbally. So we try again, this time is much worse, my brain is getting tired. I keep forgetting what I'm talking about and just stare blankly at the camera. We try 15 more times and I just can't get the words out. After an hour we finally have enough coherent content that I can stitch it together later into this simple 4 minute video. It's devastating to go from someone sharp and clear to someone who can't form sentences in a matter of minutes. It's been 2 hours since I ate and I'm starting to panic. I need to eat every hour or I get sick, so we eat lunch which helps, and fortunately talking on camera is done for the day. By 3pm I'm having a really hard time physically standing up but I'm done with the boat, so that's good. Now comes the exciting part, testing the new kayak design on the water. With all the videography and administrative work of Cape Falcon Kayaks, building and testing kayaks is only a small portion of my work these days, but it's still the best part.
We pack a paddle and drysuit into the car and put the boat up top and drive down to the river. Liz is filming every moment which will be turned into a 2 minute short video for instagram. It will take almost half a day to produce this, and definitely detracts from just enjoying the experience, but it really helps the business so the constant media production is a necessary evil. Carrying the kayak down the dock I'm momentarily transported back to a life I haven't known for over a decade. No matter how many times I go through this I always think the same things: 'I love this, why don't I do this anymore? I don't feel that sick, why don't I paddle anymore?' Carrying the kayak in one hand by the rim of the cockpit, I pause at the edge of the dock and lower the kayak into the water, stepping after it into the center of the cockpit and sitting down with a single fluid motion. After sealing the spray deck I'm quickly gliding sideways away from the dock with a sculling draw stroke before leaning the kayak right to the exact edge of it's balance point, extending the paddle and then spinning the boat 180 degrees with a single stroke that melts effortlessly back to upright and propels me forward. Grace, precision, flow. Everyone has something that gives them this feeling, a moment of perfection where the world disappears and time stretches like taffy. It's a welcome respite from the endless days of video production, filling orders, and answering emails. This moment on the water is such a deep moment of joy. I literally can't understand why I don't do this anymore, but in three hours I will.
I'm dizzy getting out of the water, unsteady and weak. The kayak weighs less than 30 lbs, and it's hard to get it onto the car. I'm exhausted from the 15 minute paddle and carrying the kayak less than a 100 feet, but I'm contented and love the feeling of wet hair and the smell of my old drysuit in the car. Liz and I take a rare night off work and see a movie. By the middle of the movie I'm having trouble following the dialogue and the action is happening faster than I can process. By the end I'm starting to have a deep aching chest pain and it's hard to breathe. The breaths are intermittent, with long pauses in between, like my body has forgotten to signal the next breath. We go home and I turn the heat up to 80 and I swing in my favorite hanging chair. My brain function collapses. I can't read, I can't answer email, I'm spiraling into a suicidal depression that has nothing to do with thought or emotion, almost a physical feeling inside my skull, an indescribable strangeness. Just like every night I eat dinner at midnight. For whatever reason, eating a large amount of red meat at midnight usually helps to avoid the severe sleep disturbances, but not tonight. I have violent nightmares which are again, nothing psychological, just the manifestation of something wrong in the way my brain is functioning.
I wake up the next morning exhausted. My urine is more greenish than yellow and smells strange. My bowels are frozen and will stay this way for the next 3 days. The skin on my face is whitish, almost bluish-grey in places. I feel like I've been run over by a truck. Today won't be a good day. When Liz and I try to film there won't be that first golden take that we can sometimes use without endless re-shoots. I'll be so confused that it will take literally over 50 takes per 2 minutes of usable video. When I try to build later on I'll spend 20 minutes looking for a chisel that is literally right on the worktable. I'll take a quick measurement, talking to myself while I work. "11 inches, minus 4, come on Brian you've got this, what is 11 minus 4!?" I'll use the calculator on my phone to solve the problem. The battery on the drill runs out and I walk across the room to grab another, but then I'm on that side of the room and I have no idea why I'm there. "Ok Brian, back up, where were we, what were we just doing?". I walk back and start working, "Oh right, drill battery." It's impossible to get anything done this cognitively impaired, but I've learned to do it. It's just slow and frustrating. Work keeps me occupied. It distracts me from the chest pain, and the bizarre sensations from my neuropathy. I go straight from work into video editing which is something I can do even when my brain barely works. I feel horrible though, almost like I've been poisoned but it isn't until I close the computer at 9pm that the reality of my situation really hits me: Oh my god, this is my life, this has been my life for over 10 years. It's an awful way to live, but the worst part is what it does to my attitude. I'm severely depressed but again we must draw a distinction; there is the dissatisfaction with the situation, that's not what I'm talking about, the depression I'm describing is a grinding neurobiological sensation that is far more physical than mental. The actual feeling is that there is something physically wrong in my skull. The illness has done more than stolen my ability to exercise or socialize, it's stolen my ability to choose how I cope with my situation. This is the ultimate catch-22 in any illness that affects the brain, unlike a say, having a limb hacked off, where one might meet the challenge with courage and acceptance. Dysfunction in the basic energetic systems of the brain impairs the mechanisms that could otherwise find peace even amidst significant suffering. For the next two days I'll be forced to share my mind with an odd, humorless, suicidal darkness until, after a few days in warm temperatures eating a lot of food, everything will shift, and I'll be back to my old warm, positive, and energetic self. No matter how many times I go through it, it's still just an absolute mindfuck. You'd think if you were aware enough to reflect on a mental state you could change it, but this is not so if the cause is an issue with brain function. After a few days my urine will return to it's normal color and smell, my bowels will function again, the chest pain will subside and my breathing will return to normal. Until I lift a few boards, or forget to eat an apple in the afternoon, or forget to turn the heat back on after a video shoot, and the whole monstrous cycle starts over again.
This, is what it's like to live with an undiagnosed metabolic disease.
Tuesday Feb. 19th 2020
I feel terrible in the morning, but it's a good day. I didn't have nightmares last night, my urine is a normal color and smells normal, my bowels work and my skin tone is good. It's been a little warmer lately and keeping the house at 77 degrees at night makes a big difference as well. By 10am I'm done answering work emails and it's time to head to the shop where I've been working on the latest kayak design. I feel relatively sharp today, not smart like I used to be, but sharp enough to work, and relatively happy. Liz follows me with the camera, and we set up the lighting and microphones. Most of our filming is short clips of various parts of the final adding of accessories to a new kayak design, but because I'm feeling well enough to speak we do a short video about a new coating process for the wooden paddles. The first take is really good, I'm articulate but I made a mistake in explaining something, so we try again. This time I start to stumble verbally. So we try again, this time is much worse, my brain is getting tired. I keep forgetting what I'm talking about and just stare blankly at the camera. We try 15 more times and I just can't get the words out. After an hour we finally have enough coherent content that I can stitch it together later into this simple 4 minute video. It's devastating to go from someone sharp and clear to someone who can't form sentences in a matter of minutes. It's been 2 hours since I ate and I'm starting to panic. I need to eat every hour or I get sick, so we eat lunch which helps, and fortunately talking on camera is done for the day. By 3pm I'm having a really hard time physically standing up but I'm done with the boat, so that's good. Now comes the exciting part, testing the new kayak design on the water. With all the videography and administrative work of Cape Falcon Kayaks, building and testing kayaks is only a small portion of my work these days, but it's still the best part.
We pack a paddle and drysuit into the car and put the boat up top and drive down to the river. Liz is filming every moment which will be turned into a 2 minute short video for instagram. It will take almost half a day to produce this, and definitely detracts from just enjoying the experience, but it really helps the business so the constant media production is a necessary evil. Carrying the kayak down the dock I'm momentarily transported back to a life I haven't known for over a decade. No matter how many times I go through this I always think the same things: 'I love this, why don't I do this anymore? I don't feel that sick, why don't I paddle anymore?' Carrying the kayak in one hand by the rim of the cockpit, I pause at the edge of the dock and lower the kayak into the water, stepping after it into the center of the cockpit and sitting down with a single fluid motion. After sealing the spray deck I'm quickly gliding sideways away from the dock with a sculling draw stroke before leaning the kayak right to the exact edge of it's balance point, extending the paddle and then spinning the boat 180 degrees with a single stroke that melts effortlessly back to upright and propels me forward. Grace, precision, flow. Everyone has something that gives them this feeling, a moment of perfection where the world disappears and time stretches like taffy. It's a welcome respite from the endless days of video production, filling orders, and answering emails. This moment on the water is such a deep moment of joy. I literally can't understand why I don't do this anymore, but in three hours I will.
I'm dizzy getting out of the water, unsteady and weak. The kayak weighs less than 30 lbs, and it's hard to get it onto the car. I'm exhausted from the 15 minute paddle and carrying the kayak less than a 100 feet, but I'm contented and love the feeling of wet hair and the smell of my old drysuit in the car. Liz and I take a rare night off work and see a movie. By the middle of the movie I'm having trouble following the dialogue and the action is happening faster than I can process. By the end I'm starting to have a deep aching chest pain and it's hard to breathe. The breaths are intermittent, with long pauses in between, like my body has forgotten to signal the next breath. We go home and I turn the heat up to 80 and I swing in my favorite hanging chair. My brain function collapses. I can't read, I can't answer email, I'm spiraling into a suicidal depression that has nothing to do with thought or emotion, almost a physical feeling inside my skull, an indescribable strangeness. Just like every night I eat dinner at midnight. For whatever reason, eating a large amount of red meat at midnight usually helps to avoid the severe sleep disturbances, but not tonight. I have violent nightmares which are again, nothing psychological, just the manifestation of something wrong in the way my brain is functioning.
I wake up the next morning exhausted. My urine is more greenish than yellow and smells strange. My bowels are frozen and will stay this way for the next 3 days. The skin on my face is whitish, almost bluish-grey in places. I feel like I've been run over by a truck. Today won't be a good day. When Liz and I try to film there won't be that first golden take that we can sometimes use without endless re-shoots. I'll be so confused that it will take literally over 50 takes per 2 minutes of usable video. When I try to build later on I'll spend 20 minutes looking for a chisel that is literally right on the worktable. I'll take a quick measurement, talking to myself while I work. "11 inches, minus 4, come on Brian you've got this, what is 11 minus 4!?" I'll use the calculator on my phone to solve the problem. The battery on the drill runs out and I walk across the room to grab another, but then I'm on that side of the room and I have no idea why I'm there. "Ok Brian, back up, where were we, what were we just doing?". I walk back and start working, "Oh right, drill battery." It's impossible to get anything done this cognitively impaired, but I've learned to do it. It's just slow and frustrating. Work keeps me occupied. It distracts me from the chest pain, and the bizarre sensations from my neuropathy. I go straight from work into video editing which is something I can do even when my brain barely works. I feel horrible though, almost like I've been poisoned but it isn't until I close the computer at 9pm that the reality of my situation really hits me: Oh my god, this is my life, this has been my life for over 10 years. It's an awful way to live, but the worst part is what it does to my attitude. I'm severely depressed but again we must draw a distinction; there is the dissatisfaction with the situation, that's not what I'm talking about, the depression I'm describing is a grinding neurobiological sensation that is far more physical than mental. The actual feeling is that there is something physically wrong in my skull. The illness has done more than stolen my ability to exercise or socialize, it's stolen my ability to choose how I cope with my situation. This is the ultimate catch-22 in any illness that affects the brain, unlike a say, having a limb hacked off, where one might meet the challenge with courage and acceptance. Dysfunction in the basic energetic systems of the brain impairs the mechanisms that could otherwise find peace even amidst significant suffering. For the next two days I'll be forced to share my mind with an odd, humorless, suicidal darkness until, after a few days in warm temperatures eating a lot of food, everything will shift, and I'll be back to my old warm, positive, and energetic self. No matter how many times I go through it, it's still just an absolute mindfuck. You'd think if you were aware enough to reflect on a mental state you could change it, but this is not so if the cause is an issue with brain function. After a few days my urine will return to it's normal color and smell, my bowels will function again, the chest pain will subside and my breathing will return to normal. Until I lift a few boards, or forget to eat an apple in the afternoon, or forget to turn the heat back on after a video shoot, and the whole monstrous cycle starts over again.
This, is what it's like to live with an undiagnosed metabolic disease.
The elevator pitch
If I only had an elevator ride, albeit in a very tall building, to explain my medical situation to you, I would say the following:
As a kid I had weird issues with exhaustion, memory, and focus in general, but much worse after exercise. As I got older and started to push my body harder I also started having chest pain and weakness that got so severe I had to stop all athletics and hard physical work. I slowly recovered with sitting exercise like kayaking and work that wasn't too physically strenuous, but as soon as I started upright fitness training again in earnest in my mid 30's the symptoms came back, along with heart palpitations, digestive issues, inability to keep warm, inability to sleep, ringing in my ears, and terrifying spikes in blood pressure 3 hours after exercise or if I didn't eat for more than 3 hours. These and a host of other brutal symptoms eventually forced me to abandon all recreational activities and stop working. I saw many doctors and got many tests but the only thing they could find wrong was a small fiber neuropathy and some indication of vagus nerve dysfunction. I have many symptoms that are common to adult onset genetic metabolic diseases, and many symptoms that are common to a variety of diseases that share issues with microvascular dysfunction. I also match the current symptoms for Chronic Fatigue Syndrome which itself is linked to both microvascular dysfunction and small fiber neuropathy. I STRONGLY believe that the science is now in the process of elucidating a genetic component of the illness that effects metabolism and/or microvascular function. There is also a compelling argument that the downstream vascular consequences of certain types of small fiber neuropathy alone could potentially lock the body into a vicious cycle of inflammation of the brain, oxidative stress, and microvascular dysfunction. After being just brutally sick for over ten years, I was able to find a doctor who allowed me to experiment with vasodilating medications which have made a huge difference. I am not cured, I'm not even well, but I'm not suicidal anymore, which is a big improvement. My focus right now is on finding some way to fill in the gaps in my medical testing looking for anything that can trace directly to small fiber neuropathy of microvascular dysfunction in the hopes of finding a treatable issue. My current belief is that restoring those nerve fibers is my best chance of getting out of this nightmare but that depends on understanding the cause of the neuropathy, and it being a treatable cause. Part of this is getting an evaluation for an adult onset genetic metabolic disease which is incredibly hard due to the fact that most geneticists have closed their doors to adults to keep up with pediatric caseloads. Even just a conversation with a geneticist explaining the testing I've had so far and clarifying things I need to understand would be hugely helpful. There are a couple of promising experimental therapies I'd like to try but I have no idea how to get these outside of a research setting. So right now I'm basically kinda stuck; too do anything but work a little bit each day, and not sure how to move forward. If you have any relevant experience or know anyone that specializes in neuropathy, microvascular function, or genetics, please let me know. I try to keep a good attitude, but honestly, it's a pretty devastating situation. Elevator open.
So that's me in a nutshell and if you just came here for a quick dive into understanding what I mean when I say I'm chronically ill, theres no point in reading the whole depressing saga. The information below is really just a record of my experience for people whom I interact with that might for whatever reason want to look deeper at what I've got going on. It's not a particularly cheerful read, so continue at your own peril.
As a kid I had weird issues with exhaustion, memory, and focus in general, but much worse after exercise. As I got older and started to push my body harder I also started having chest pain and weakness that got so severe I had to stop all athletics and hard physical work. I slowly recovered with sitting exercise like kayaking and work that wasn't too physically strenuous, but as soon as I started upright fitness training again in earnest in my mid 30's the symptoms came back, along with heart palpitations, digestive issues, inability to keep warm, inability to sleep, ringing in my ears, and terrifying spikes in blood pressure 3 hours after exercise or if I didn't eat for more than 3 hours. These and a host of other brutal symptoms eventually forced me to abandon all recreational activities and stop working. I saw many doctors and got many tests but the only thing they could find wrong was a small fiber neuropathy and some indication of vagus nerve dysfunction. I have many symptoms that are common to adult onset genetic metabolic diseases, and many symptoms that are common to a variety of diseases that share issues with microvascular dysfunction. I also match the current symptoms for Chronic Fatigue Syndrome which itself is linked to both microvascular dysfunction and small fiber neuropathy. I STRONGLY believe that the science is now in the process of elucidating a genetic component of the illness that effects metabolism and/or microvascular function. There is also a compelling argument that the downstream vascular consequences of certain types of small fiber neuropathy alone could potentially lock the body into a vicious cycle of inflammation of the brain, oxidative stress, and microvascular dysfunction. After being just brutally sick for over ten years, I was able to find a doctor who allowed me to experiment with vasodilating medications which have made a huge difference. I am not cured, I'm not even well, but I'm not suicidal anymore, which is a big improvement. My focus right now is on finding some way to fill in the gaps in my medical testing looking for anything that can trace directly to small fiber neuropathy of microvascular dysfunction in the hopes of finding a treatable issue. My current belief is that restoring those nerve fibers is my best chance of getting out of this nightmare but that depends on understanding the cause of the neuropathy, and it being a treatable cause. Part of this is getting an evaluation for an adult onset genetic metabolic disease which is incredibly hard due to the fact that most geneticists have closed their doors to adults to keep up with pediatric caseloads. Even just a conversation with a geneticist explaining the testing I've had so far and clarifying things I need to understand would be hugely helpful. There are a couple of promising experimental therapies I'd like to try but I have no idea how to get these outside of a research setting. So right now I'm basically kinda stuck; too do anything but work a little bit each day, and not sure how to move forward. If you have any relevant experience or know anyone that specializes in neuropathy, microvascular function, or genetics, please let me know. I try to keep a good attitude, but honestly, it's a pretty devastating situation. Elevator open.
So that's me in a nutshell and if you just came here for a quick dive into understanding what I mean when I say I'm chronically ill, theres no point in reading the whole depressing saga. The information below is really just a record of my experience for people whom I interact with that might for whatever reason want to look deeper at what I've got going on. It's not a particularly cheerful read, so continue at your own peril.
In the beginning
Something has been up with me since I was a kid. As a Boy Scout on the third day of any hike, I'd be at the back of the pack shuffling along while everyone else was hiking normally, and afterwards I'd be exhausted for days. I often had difficulty thinking and was depressed after exercise. These things might be related. It's possible that I have some sort of genetic metabolic, but it's also possible these issues stemmed from an infection, a nutrient deficiency, a toxic exposure, a microbiome disruption, or any number of things that can disrupt metabolism. Even a naturally robust immune system is a double edged sword because it makes autoimmune/inflammatory issues more likely. Whatever it is, something was going on with me as a kid.
A 240 volt lightbulb in a 120V socket
(I'm aware they don't make 240V light bulbs). I often wonder if I would have gotten sick if I had more of a bookish personality or had lived a less stressful life. My passions have always been athletics and pushing myself hard to achieve goals, I've suffered some significant traumas, I grew up on the standard American diet, and lived on beer and candy bars in college. Working nights full time to put myself through college, and rock climbing and kayaking on the weekends probably didn't help either. I had friends who lived the same lifestyle who suffered no ill effects so it all seemed pretty normal until things started to go wrong. At age 21 I was training to be a firefighter, I scored excellent on the written tests and took to the medical side of things easily, but the harder I trained physically, the weaker I got until I started having chest pain and heart palpitations, extreme thirst, frequent urination, inability to sleep, constant exhaustion and finally an episode where after a long hike, I experienced intense nausea and my heart rate shot up to an extremely high rate and stayed there for 20 minutes. After that episode which I've always wondered about possibly being a silent heart attack, I couldn't even hike up a small hill. I had to stop all forms of hard physical work and upright exercise and slowly recovered over a period of 12 years. In retrospect I think that whatever was wrong with me as a kid combined with the lifestyle I was living later on, and somehow caused an undiagnosed autonomic neuropathy that I only partially recovered from.
Collapse
By my mid 30's I felt strong again, the boatbuilding business was successful, and I kayaking at very high level. The problem I continually faced though was a dangerous lack of breath holding ability. Surfing and kayaking I frequently saw my friends held down for over a minute, and there was no way I could do that so I started fitness training again. At first it seemed to be going well, I was running, and hiking, but I couldn't get any stronger. At this time I lived on a farm and I was eating a super healthy diet of vegetables I grew, and salmon and deer I harvested myself. I hired a trainer for a while, and neither of us could understand why I couldn't gain strength. Nutrition + smart training + sleep should equal fitness, but for me it just didn't. Just like when I was a younger, I started getting weaker, but this time my personality started to change as well. I became depressed, my humor disappeared, and I started having serious issues with memory and focus. The chest pain came back, but this time there was difficulty breathing, ringing in my ears, GI issues, I couldn't stay warm, my skin turned white, and sometimes grey, I couldn't sleep, my blood pressure was see-sawing from extremely high to extremely low, I had staggering episodes where I lost fine motor control, and I became so weak that not only could I not exercise, eventually I had to stop working. I think what was happening here was the same issue I had when I was younger, only this time in a much less resilient body. Some sort of a metabolic glitch, genetic or otherwise, combined with the increased metabolic activity and severely taxed my autonomic nervous system. There are hundreds of possible scenarios for how this could happen. A nutrient deficiency or processing issue could cause it, infections our autoimmune changes can trigger metabolic effects, a direct metabolic defect can cause neurotoxic byproducts to accumulate, or affect the bodies ability to get rid of them, and at some point things just turn into feedback loops, where damaging processes drive themselves.
The quest for answers
The first hurdle you run into when basic medical tests don't show any issues, and you look superficially normal is psychosomatic diagnosis like "anxiety" or "conversion disorder". I'd been diagnosed with anxiety when I first got sick in my 20's so I knew it was bullshit and I refused to accept the diagnosis. I got more medical tests which also didn't show anything abnormal, but it seemed weird to me that I wasn't being tested when I was actually sickest. That makes sense right? I argued with the doctors "shouldn't we do a urine test when my urine turns green and smells weird 3 hours after exercise?" "Shouldn't we check my blood pressure when it spikes super high 3 hours after exercise?" "Shouldn't we perform the echocardiogram 3 hours after exercise when I start having symptoms that the internet says looks like early stage heart failure?" I got the strong impression they just didn't believe what I said was happening or maybe there just wasn't a way to order tests differently than how they are normally done. Over the next 3 years I got every other type of medical test imaginable, but I made no progress with these requests for testing while symptomatic. Some doctors were polite, others were condescending occasionally bordering on hostile, but none seemed open to considering anything beyond their current understanding of how the body worked and how tests are normally ordered. Interestingly, I would find this same phenomenon with alternative medicine doctors, who were usually nicer, but weren't interested in considering physiology outside their knowledge base. As an interesting side note, although I didn't know it at the time, researchers at Harvard were performing exactly the kinds of tests I was envisioning on people just like me, and the results, only recently released and awaiting publication (click here to watch the presentation) challenged conventional ideas of physiology enough that people questioned whether the machinery was functioning correctly. In retrospect, I had zero chance of persuading anyone.
My whole time as a patient in the medical system was just one argument after another. With no empirical proof I was actually sick, I had to fight tooth and nail against being labeled a psychiatric case. I had to fight for referrals to specialists then fight to get accepted by those specialists, then wait months for an appointment, and then try to tell my story in 15 minutes or less which will make anyone seem like a crazy person. I hammered on the same points, why am I cold? Why do I feel better on certain antibiotics? Why do I feel much better when I run, but feel like I'm going to die after a walk? Why is my skin sometimes grey? Why does my urine smell weird? Why are my ears ringing? Why are blood vessels bursting in my eyes? Why are all these things much worse after exercise, in cold weather, or when the barometric pressure drops? I was convinced there was a pattern but probably came across sounding like I was outlining a conspiracy theory. The multifaceted problems I was having challenged the very notion of specialization and also of bandwidth. Post visit summaries rarely listed symptoms a particular doctor didn't consider real or relevant. One notable exception was a young neurologist who listened carefully and instead of pushing me towards a psych diagnosis ordered autonomic testing and a skin punch biopsy which revealed an advanced small fiber neuropathy. This diagnosis would later turn out to be more significant in explaining my symptoms than was thought at the time, but what I appreciated most was his willingness to discuss physiology with me, and his openness to other ideas. At one point when I dismissed naturopathic treatments he leaned in and said: "I would strongly advise you to reconsider, there are a lot of really smart ideas out there right now that I can't recommend because the research isn't there yet, but I think many of these things can be very helpful." He called me on the phone a month later to see how I was doing. It was the only experience I've ever had like this with a doctor, and I don't think it's a coincidence that his positive open minded attitude led to the most significant medical finding in my case to date. I was disappointed when he moved out of state.
My whole time as a patient in the medical system was just one argument after another. With no empirical proof I was actually sick, I had to fight tooth and nail against being labeled a psychiatric case. I had to fight for referrals to specialists then fight to get accepted by those specialists, then wait months for an appointment, and then try to tell my story in 15 minutes or less which will make anyone seem like a crazy person. I hammered on the same points, why am I cold? Why do I feel better on certain antibiotics? Why do I feel much better when I run, but feel like I'm going to die after a walk? Why is my skin sometimes grey? Why does my urine smell weird? Why are my ears ringing? Why are blood vessels bursting in my eyes? Why are all these things much worse after exercise, in cold weather, or when the barometric pressure drops? I was convinced there was a pattern but probably came across sounding like I was outlining a conspiracy theory. The multifaceted problems I was having challenged the very notion of specialization and also of bandwidth. Post visit summaries rarely listed symptoms a particular doctor didn't consider real or relevant. One notable exception was a young neurologist who listened carefully and instead of pushing me towards a psych diagnosis ordered autonomic testing and a skin punch biopsy which revealed an advanced small fiber neuropathy. This diagnosis would later turn out to be more significant in explaining my symptoms than was thought at the time, but what I appreciated most was his willingness to discuss physiology with me, and his openness to other ideas. At one point when I dismissed naturopathic treatments he leaned in and said: "I would strongly advise you to reconsider, there are a lot of really smart ideas out there right now that I can't recommend because the research isn't there yet, but I think many of these things can be very helpful." He called me on the phone a month later to see how I was doing. It was the only experience I've ever had like this with a doctor, and I don't think it's a coincidence that his positive open minded attitude led to the most significant medical finding in my case to date. I was disappointed when he moved out of state.
Down the Metabolic Rabbit Hole
Sometime around 2015 I first encountered descriptions of Mitochondrial Disease, genetic mutations in the little cellular powerhouses of the body. I was astounded by how many symptoms matched my own and naively thought I'd found the answer to my mystery. (something I still haven't ruled out) I made an appointment with my doctor who irritably told me that mitochondrial disease "was maybe something happening somewhere in research, but it's not something that I can refer you to get tested for" After several similar experiences with other doctors I decide to just buy the genetics textbooks and start reading them myself. These books, combined with the resource material and podcasts from several advocacy organization would lead me on an odyssey of learning that was far more involved than I could have ever imagined. I learned that Mitochondrial diseases were was just one of dozens of different types of genetic metabolic diseases. I learned that although originally thought to be severe early childhood disorders, Inborn Errors of Metabolism were now thought to be common in adults and often go undiagnosed due to lack of available specialists, symptom presentations that can look nothing like the published literature, and a lack of sensitivity of diagnostic tests. With nearly all the clinical geneticists in the US closed to adult patients to keep up with pediatric caseloads, I tried to do my own diagnostics, slowly accumulating tests from a patchwork of sympathetic doctors, but it was a slow and frustrating process, and often seemed to create more questions than it answered. Back channel conversations with researchers often revealed that the exercise, biochemical, and genetic testing I was relying on wasn't nearly as conclusive as I'd been led to believe, and a lot of the more advanced diagnostics simply weren't routinely performed outside of diagnostic centers or research settings. A bigger problem was that there was no way to just talk to a geneticist to discuss what sort of testing strategy actually made sense for my symptoms so I could make informed decisions rather than just take a shotgun approach with expensive testing.
This was a problem I'd run into again and again on my medical journey. The lack of avenues for consulting that don't require formal intakes and lengthy waits makes it challenging to consider options and plan next steps. I've had multiple experiences of waiting more than a year to see a doctor who quickly explained they had nothing relevant to offer. I applied to the Undiagnosed Disease Network and Baylor Adult Genetics and was rejected by both, but also offered no avenue of communication explaining the logic for the decision. I've found case studies of adults with genetic metabolic diseases who were diagnosed quite late in life by tests that I haven't had yet, but aside from a highly specific presentation or unexplained organ failure, I can't find any natural avenue in the medical system that would lead someone with the often amorphous cluster of symptoms that characterizes so many adult onset IEM's, to actually get those diagnostics. This begs the question of whether these diseases may be far more common than is currently realized.
This was a problem I'd run into again and again on my medical journey. The lack of avenues for consulting that don't require formal intakes and lengthy waits makes it challenging to consider options and plan next steps. I've had multiple experiences of waiting more than a year to see a doctor who quickly explained they had nothing relevant to offer. I applied to the Undiagnosed Disease Network and Baylor Adult Genetics and was rejected by both, but also offered no avenue of communication explaining the logic for the decision. I've found case studies of adults with genetic metabolic diseases who were diagnosed quite late in life by tests that I haven't had yet, but aside from a highly specific presentation or unexplained organ failure, I can't find any natural avenue in the medical system that would lead someone with the often amorphous cluster of symptoms that characterizes so many adult onset IEM's, to actually get those diagnostics. This begs the question of whether these diseases may be far more common than is currently realized.
Another perspective: microvascular dysfunction
The entire time I was trying to figure out if there could be a genetic metabolic component to my illness, I was challenged by a small handful of experiences that seemed to have at least as much to do with blood flow as with metabolism. Unquestionably metabolic stress was triggering the symptoms, but what was actually causing the symptoms? A big clue came one afternoon after working all day in the hot sun. I was relaxing with my girlfriend when I started to feel ill. Mysterious episodes of high blood pressure were common at this point so I grabbed a blood pressure cuff and over the next hour my blood pressure slowly climbed to a terrifying 210/110 where it would remain for 7 hours. I noticed the veins disappeared from my arms, and after it was over I could only think of one explanation: The tiny blood vessels in my body had all squeezed down at once creating back pressure in my circulatory system. This didn't make sense as a neurological effect because if anything, the small fiber neuropathy should dilate blood vessels, so I envisioned a chemical messenger, perhaps a molecular mimic or a byproduct of metabolism gone awry? After that day, I never pushed myself that hard again, but I began to notice that all my most serious episodes corresponded to a spike in blood pressure after exercise and became interested in microvascular dysfunction. Much like metabolic diseases, microvascular dysregulation is staggeringly complex comprising a myriad of overlapping mechanisms with new ones being discovered all the time. I realized pretty quickly that without access to scientists who specialize in the field, there was simply no way to figure out which mechanisms were causing the issue, and what was causing them.
Around this time I had an experience that added a whole new layer of questions. I was building a van interior and doing significant repairs on the vehicle. So literally two months on my hands and knees or back, grunting and straining. When I began, I was so sick I was getting close to suicide, but after a few weeks of this, I started feeling mysteriously better. Within a month I still felt weak and had mild chest pain, but otherwise felt normal. Most of all, I could SLEEP, which was amazing after not being able to for years. I was happy, my cognition sharpened. I thought I had received a miracle....until I began traveling in the van. Sitting still and upright all day, day after day, week after week, all my symptoms slowly returned until 3 months later I was sicker than I had ever been. Sleeping in the cold van had jacked up my metabolic rate, which was somehow triggering the microvascular dysfunction, which was making me absolutely miserable. When I finally returned from the road trip, I was losing weight rapidly and it took 3 months sleeping in a warm house and eating constantly to stabilize. As soon as my metabolism slowed, I started feeling better. Keep in mind, stable in this case still means miserable, just not suicidally miserable.
Around this time I had an experience that added a whole new layer of questions. I was building a van interior and doing significant repairs on the vehicle. So literally two months on my hands and knees or back, grunting and straining. When I began, I was so sick I was getting close to suicide, but after a few weeks of this, I started feeling mysteriously better. Within a month I still felt weak and had mild chest pain, but otherwise felt normal. Most of all, I could SLEEP, which was amazing after not being able to for years. I was happy, my cognition sharpened. I thought I had received a miracle....until I began traveling in the van. Sitting still and upright all day, day after day, week after week, all my symptoms slowly returned until 3 months later I was sicker than I had ever been. Sleeping in the cold van had jacked up my metabolic rate, which was somehow triggering the microvascular dysfunction, which was making me absolutely miserable. When I finally returned from the road trip, I was losing weight rapidly and it took 3 months sleeping in a warm house and eating constantly to stabilize. As soon as my metabolism slowed, I started feeling better. Keep in mind, stable in this case still means miserable, just not suicidally miserable.
Putting it all together: Neuropathy, microvascular dysfunction, and inflammation.
The following years passed in much the same way as the previous ones, with me learning as much as I could about physiology, and having an impossible time trying to explain it to anyone in the 15 minute visit times typically allotted for doctor/patient interactions. I did see a geneticist briefly, but as a private practice doctor without the resources of an affiliated hospital, it was just too difficult to actually pursue much of the testing I was looking for. My horizons for what might be causing the illness were also expanding at this time, and the overwhelming array of possibilities made it hard to decide how to use time and resources.
I want to take a moment now to talk about Chronic Fatigue Syndrome. Unlike the relatively mild, and possibly psychosomatic connotations that the name suggests, most of my devastating symptoms actually fit recent definitions of the illness. It was a diagnosis I resisted because it not only comes with a minimizing stigma, but is also supposed to be a diagnosis of exclusion, and I wasn't anywhere near excluding all possible causes of my neuropathy or other symptoms. I also didn't buy a lot of the thinking that was happening in the ME/CFS research field until quite recently. It's a confusing syndrome because it seems to be able to be triggered by a variety of infections, autoimmune issues, toxic exposures, genetic issues, microbiome disruptions, even extreme stress which begs the question of what IS the common pathology in an illness that seems to be caused by almost anything? Believe it or not there is a common denominator in most of these otherwise dissimilar illnesses, but it's not immediately obvious. Let's try to connect some dots, keeping in mind this is a highly simplified summary of an extremely complex subject.
In addition to the research implicating metabolism and immune function, the latest science on CFS is focusing more and more on blood flow. This is not a new subject with findings as far back as 1989 showing hemodynamic irregularities, but just like all science, the focus on various aspects ebbs and flows. It is known that people with CFS have hypovolemia (low blood volume), and hypocapnia (high blood oxygen which triggers system wide vasoconstriction). Remember my really poor breath hold ability? That's a common symptom of this condition. It is also now well understood that many, if not most people with CFS have small fiber neuropathies. It is also a fact that the mechanism of damage in most peripheral neuropathies is microvascular, even if the underlying cause is something else. Here's where it gets interesting, most things that can trigger ME/CFS are either known to cause neuropathy or microvascular dysfunction. Small fiber neuropathy also causes microvascular dysfunction, so whether neuropathy is the cause of microvascular dysfunction, or the effect of microvascular dysfunction causing more microvascular dysfunction, the end result is microvascular dysfunction.
Lets take a closer look at what is happening in the body when small fiber neuropathy is established. Small nerve fibers and their highly specific receptors are responsible for a variety of vasoconstriction and vasodilation effects, but focusing on just one: small fiber neuropathy removes neural control of the smooth muscle that surrounds the large arteries allowing them to constrict when we stand up so we don't pass out. Juxtaposing that understanding with extremely recent research in mechanosensing and hemodynamics, it follows that the resulting slower more turbulent blood flow could trigger tiny mechanical sensors and other mechanically mediated processes to release a variety of different chemical signals into the bloodstream that induces vasoconstriction in the distant small vessels. If you combine these with the existing known vasoconstrictive mechanism of hypocapnia, overall low blood volume, and the more sluggish blood flow that occurs due to venous pooling as a result of the small fiber neuropathy, there is one dramatic result: Extremely poor blood flow to the brain, especially when standing upright and not moving, especially in warm weather, even if blood pressure remains normal.
Now lets talk about what happens in the brain when blood flow is poor. Inflammation is our bodies natural response to injury which promotes healing, but unchecked chronic inflammation can damage the body. There is a circular relationship between microvascular dysfunction and inflammation and the build up of cellular waste products where the body can get stuck in feedback loops where any one of these can cause the other two to occur. This results in a slow degenerative process that damages the body. Some of this is just the inevitable result of aging, but on a faster track these feedback loops form the basis for many chronic diseases. CFS research has so far focused on proving that the immune response or oxidative stress is the cause of brain inflammation, but I want to propose that microvascular dysfunction might be the precursor to the other two. It also seems reasonable to wonder whether one of our bodies key checks against inflammation, the cholinergic anti inflammatory pathway, might not be able to function if the nerve fibers that partially govern it's function are physically damaged.
Now lets look at what happens when the brain is inflamed. The relatively young field of neuroimmunology is very helpful here. It turns out that chronic inflammation of the brain dramatically downregulates dopamine pathways which wreaks havoc on cognition and mood, resulting in behaviors and personality changes that are very close matches for CFS presentations. Truthfully, a variety of inflammatory and/or microvascular illnesses that effect the brain share similar neurocognitive characteristics and many similarities on various types of imaging scans.
Now lets revisit that episode where I healed for a time just by working on my hands and knees and back. Is it still a mystery? I'm going to theorize that this mechanical pushing of blood through the head could promote blood flow, potentially interrupt the inflammatory response, and temporarily restore impaired brain functions including those that regulate sleep. Can I prove that? no, but I think it's also plausible.
It's also worth considering all the other issue that can arise when the parasympathetic nervous system is impaired, due to neuropathy or otherwise. Increased sympathetic activity, for one, is directly damaging to small vessels and is now thought to be a major contributor to atherosclerosis. The parasympathetic branches of the nervous system also control voice tone, swallowing, heart rate, and most aspects of digestion. Of the many patterns I've noticed, when I'm sicker my digestion stops working correctly, from my ability to swallow normally, to how I'm breaking down fats and how long things are taking to move through. Something I didn't notice until recently is that in many of my older instructional videos, I speak in a slow monotone. At my sickest my heart just pounded continuously regardless of what I was or wasn't doing at the time. Finally, my autonomic testing included a finding that suggested vagus nerve neuropathy.
I want to take a moment now to talk about Chronic Fatigue Syndrome. Unlike the relatively mild, and possibly psychosomatic connotations that the name suggests, most of my devastating symptoms actually fit recent definitions of the illness. It was a diagnosis I resisted because it not only comes with a minimizing stigma, but is also supposed to be a diagnosis of exclusion, and I wasn't anywhere near excluding all possible causes of my neuropathy or other symptoms. I also didn't buy a lot of the thinking that was happening in the ME/CFS research field until quite recently. It's a confusing syndrome because it seems to be able to be triggered by a variety of infections, autoimmune issues, toxic exposures, genetic issues, microbiome disruptions, even extreme stress which begs the question of what IS the common pathology in an illness that seems to be caused by almost anything? Believe it or not there is a common denominator in most of these otherwise dissimilar illnesses, but it's not immediately obvious. Let's try to connect some dots, keeping in mind this is a highly simplified summary of an extremely complex subject.
In addition to the research implicating metabolism and immune function, the latest science on CFS is focusing more and more on blood flow. This is not a new subject with findings as far back as 1989 showing hemodynamic irregularities, but just like all science, the focus on various aspects ebbs and flows. It is known that people with CFS have hypovolemia (low blood volume), and hypocapnia (high blood oxygen which triggers system wide vasoconstriction). Remember my really poor breath hold ability? That's a common symptom of this condition. It is also now well understood that many, if not most people with CFS have small fiber neuropathies. It is also a fact that the mechanism of damage in most peripheral neuropathies is microvascular, even if the underlying cause is something else. Here's where it gets interesting, most things that can trigger ME/CFS are either known to cause neuropathy or microvascular dysfunction. Small fiber neuropathy also causes microvascular dysfunction, so whether neuropathy is the cause of microvascular dysfunction, or the effect of microvascular dysfunction causing more microvascular dysfunction, the end result is microvascular dysfunction.
Lets take a closer look at what is happening in the body when small fiber neuropathy is established. Small nerve fibers and their highly specific receptors are responsible for a variety of vasoconstriction and vasodilation effects, but focusing on just one: small fiber neuropathy removes neural control of the smooth muscle that surrounds the large arteries allowing them to constrict when we stand up so we don't pass out. Juxtaposing that understanding with extremely recent research in mechanosensing and hemodynamics, it follows that the resulting slower more turbulent blood flow could trigger tiny mechanical sensors and other mechanically mediated processes to release a variety of different chemical signals into the bloodstream that induces vasoconstriction in the distant small vessels. If you combine these with the existing known vasoconstrictive mechanism of hypocapnia, overall low blood volume, and the more sluggish blood flow that occurs due to venous pooling as a result of the small fiber neuropathy, there is one dramatic result: Extremely poor blood flow to the brain, especially when standing upright and not moving, especially in warm weather, even if blood pressure remains normal.
Now lets talk about what happens in the brain when blood flow is poor. Inflammation is our bodies natural response to injury which promotes healing, but unchecked chronic inflammation can damage the body. There is a circular relationship between microvascular dysfunction and inflammation and the build up of cellular waste products where the body can get stuck in feedback loops where any one of these can cause the other two to occur. This results in a slow degenerative process that damages the body. Some of this is just the inevitable result of aging, but on a faster track these feedback loops form the basis for many chronic diseases. CFS research has so far focused on proving that the immune response or oxidative stress is the cause of brain inflammation, but I want to propose that microvascular dysfunction might be the precursor to the other two. It also seems reasonable to wonder whether one of our bodies key checks against inflammation, the cholinergic anti inflammatory pathway, might not be able to function if the nerve fibers that partially govern it's function are physically damaged.
Now lets look at what happens when the brain is inflamed. The relatively young field of neuroimmunology is very helpful here. It turns out that chronic inflammation of the brain dramatically downregulates dopamine pathways which wreaks havoc on cognition and mood, resulting in behaviors and personality changes that are very close matches for CFS presentations. Truthfully, a variety of inflammatory and/or microvascular illnesses that effect the brain share similar neurocognitive characteristics and many similarities on various types of imaging scans.
Now lets revisit that episode where I healed for a time just by working on my hands and knees and back. Is it still a mystery? I'm going to theorize that this mechanical pushing of blood through the head could promote blood flow, potentially interrupt the inflammatory response, and temporarily restore impaired brain functions including those that regulate sleep. Can I prove that? no, but I think it's also plausible.
It's also worth considering all the other issue that can arise when the parasympathetic nervous system is impaired, due to neuropathy or otherwise. Increased sympathetic activity, for one, is directly damaging to small vessels and is now thought to be a major contributor to atherosclerosis. The parasympathetic branches of the nervous system also control voice tone, swallowing, heart rate, and most aspects of digestion. Of the many patterns I've noticed, when I'm sicker my digestion stops working correctly, from my ability to swallow normally, to how I'm breaking down fats and how long things are taking to move through. Something I didn't notice until recently is that in many of my older instructional videos, I speak in a slow monotone. At my sickest my heart just pounded continuously regardless of what I was or wasn't doing at the time. Finally, my autonomic testing included a finding that suggested vagus nerve neuropathy.
Unanswered questions
So we have a neuropathic/inflammatory/microvascular story which may be fully, partially, or not at all true, but the underlying question of how metabolic stress causes it remains. One of the fundamental patterns of my illness is that if I slip even slightly into fat burning metabolism my symptoms are dramatically increased. To combat this I eat a high protein meal at midnight, and another upon waking. If I don't do this, I'm hypoglycemic by 3am and by 4am my adrenal system has responded creating a phenomenon known as rebound hyperglycemia, which causes terrifying nightmares.
Symptoms being exacerbated by metabolic stress is a halmark of many genetic metabolic diseases, and many also hold microvascular dysfunction as a central feature, which is why I've been so focused on excluding genetic metabolic disease, however, if we take the CFS view, and accept that the same, metabolic, neuropathic, microvascular results are downstream of a variety of different triggering causes, it raises some very difficult questions as to whether the illness, if it is one illness, has a common genetic component, or whether it's some sort of feedback loop the body gets trapped in.
This brings us to the frontiers of science where complex clusters of genetic predispositions can combine with epigenetic effects to alter metabolic pathways. Infections can do this as well, and infections can combine with genetic predispositions to create issues that neither alone could cause. I often wonder if the delayed onset inflammation and microvascular dysfunction following exercise is somehow a consequence of itself, a circular mechanism the body gets locked into once small nerve fibers are damaged. It's also possible that CFS is an umbrella of symptoms that aren't specific enough and that there are several different diseases be studied as one illness and this combined with misdiagnosed patients with other rare diseases, combined with typically small study sizes poses a huge challenge to getting meaningful scientific results.
One of the most interesting results emerging from recent studies using the latest bioinformatics to evaluate complex genetics information, is multiple mentions of nitric oxide pathways which are essential for normal vascular function. When I read through these studies I find a variety of mutations that could be potentially vasoactive, and I wonder if in the focus on immune function and metabolism, researchers are carefully considering this aspect as well. Not everyone with extensive small fiber neuropathies develops CFS, so one can infer there must be another factor. Perhaps its the type of fibers affected, or perhaps it's an undiscovered common vasoactive cofactor that is tipping the body into a vicious cycle of inflammation, vasoconstriction, and oxidative stress. A final consideration would be issues with the bodies natural cleanup mechanisms, which, if impaired, would allow the accumulation of metabolic byproducts which can directly affect the function of endothelial nitric oxide.
Symptoms being exacerbated by metabolic stress is a halmark of many genetic metabolic diseases, and many also hold microvascular dysfunction as a central feature, which is why I've been so focused on excluding genetic metabolic disease, however, if we take the CFS view, and accept that the same, metabolic, neuropathic, microvascular results are downstream of a variety of different triggering causes, it raises some very difficult questions as to whether the illness, if it is one illness, has a common genetic component, or whether it's some sort of feedback loop the body gets trapped in.
This brings us to the frontiers of science where complex clusters of genetic predispositions can combine with epigenetic effects to alter metabolic pathways. Infections can do this as well, and infections can combine with genetic predispositions to create issues that neither alone could cause. I often wonder if the delayed onset inflammation and microvascular dysfunction following exercise is somehow a consequence of itself, a circular mechanism the body gets locked into once small nerve fibers are damaged. It's also possible that CFS is an umbrella of symptoms that aren't specific enough and that there are several different diseases be studied as one illness and this combined with misdiagnosed patients with other rare diseases, combined with typically small study sizes poses a huge challenge to getting meaningful scientific results.
One of the most interesting results emerging from recent studies using the latest bioinformatics to evaluate complex genetics information, is multiple mentions of nitric oxide pathways which are essential for normal vascular function. When I read through these studies I find a variety of mutations that could be potentially vasoactive, and I wonder if in the focus on immune function and metabolism, researchers are carefully considering this aspect as well. Not everyone with extensive small fiber neuropathies develops CFS, so one can infer there must be another factor. Perhaps its the type of fibers affected, or perhaps it's an undiscovered common vasoactive cofactor that is tipping the body into a vicious cycle of inflammation, vasoconstriction, and oxidative stress. A final consideration would be issues with the bodies natural cleanup mechanisms, which, if impaired, would allow the accumulation of metabolic byproducts which can directly affect the function of endothelial nitric oxide.
A small ray of hope
It should be pretty clear at this point that until a lot more science happens, it's impossible to guess exactly what might be happening in my body or in anyone with CFS. That doesn't discourage me though, and it doesn't mean that what is known isn't actionable. Thinking back to the dramatic effect that the powerfully vasoactive antioxidant Pycnogenol had on my brain function when I was first starting to get sick in college, I decided that experimenting with vasodilating medications might bring me some relief. Vasodilators have been used by some doctors to treat CFS for decades but there aren't a lot of studies on the subject. Treating blood flow is challenging to do in a dual landscape of hypovolemia and small fiber neuropathy, where the permanent dilation of large vessels means that dilating capillaries would likely just result in worse blood flow to the brain. It took time but I eventually discovered that the calcium channel blocker Nimodipine acts specifically on blood vessels in the brain. I found a sympathetic doctor and tried the medication which resulted in the single biggest improvement of my illness since I was working under the van. It's not a cure, I still can't kayak, I can't socialize, I still feel absolutely miserable most of the time, and if I slip into fat burning metabolism even a little bit, my health goes off a cliff, but I don't think about killing myself twice a week, which is a massive improvement. Interestingly, the severity and duration of the post exercise episodes is also reduced, which I think makes a strong argument for the pathology of that effect being at least as much about blood flow as it is about metabolism. In the past 10 years I have spent literally tens of thousands of dollar on alternative and conventional medicine, I've seen dozens of doctors and I've taken drugs and supplements by the handful to no effect, but I do respond positively to a powerfully vasoactive antioxidant, and a cerebral vasodilator? That can't be a coincidence.
The future...
There's literally no way to describe what I've been through in the last ten years. To go from being athletic and successful to feeling sick enough to want to die most days for a decade is an experience that can't be analogized except unto itself. I've suffered more than I ever thought possible, I've learned more about physiology than I ever thought I could, I figured some things out about my illness, and all the while science has kept advancing towards understandings and technologies that may soon change the landscape of what's possible for people in my situation. This gives me tremendous hope, but there is also tremendous frustration.
Becoming educated about an illness is empowering when you can use that to own to improve quality of life, but when you have to interface with a conservative, inefficient medical system to operationalize that information it can be difficult to move forward. Stories of decades long testing journeys for people with rare diseases aren't uncommon, in fact they are the norm for people with adult onset metabolic diseases. Some of these people find answers, treatments, and occasionally cures. The frustrating thing when you look at the time spent, however, is that the overwhelming majority of it is consumed in just waiting. How would you feel if you had a treatable rare disease and it took 30 years to find out what it was?
My biggest question is: What caused the small fiber neuropathy in the first place? This is important because I think that restoring nerve function may be the best hope for people like me to recover.
When I argue with doctors about the importance of doing a thorough workup for ALL known comorbid conditions or look alikes associated with CFS, they generally respond that the condition is a mystery and that there is no benefit in a complex, expensive wild goose chase. When you understand the neuropathic component and the cascade of hemodynamic and inflammatory effects that could potentially stem from it, and superimpose onto that how many known CFS comorbid and trigger conditions are known microvascular or neuropathic agents, suddenly the importance of discovering and treating the underlying cause makes more sense, if someone is willing to listen.
This brings me to the three biggest problems with the medical system. Bandwidth, Ego, and Unfounded Pessimism. If you've read this far you've invested 10 times as much time understanding my situation as any doctor I've ever encountered. Todays doctors simply don't have the time to stay current on what is actually happening with medical science, they don't have enough time to take careful patient histories and do research outside of visits, and they are almost pathologically averse to being educated about medicine from a patient. Furthermore, they almost universally take a negative stance toward an uncertain situation, which of course impacts their judgements on what is and isn't worth putting time and effort into. This leads to a situation where it's impossible to communicate why certain tests, medications, etc. are justified.
A fact that is lost on most medical providers is that small fibers continue to grow throughout life, and absent the environment that damaged them in the first place it is possible for them to regrow slowly over a period of years. This means that even if a person correctly guessed a cause and a correct treatment, that treatment may have to be applied for years to be effective. How many people have the stamina to continue a treatment based on a guess? It's my strong belief that the reason that recoveries from the illness are so rare and never seem to happen the same way twice is because those people just happened to guess correctly and apply a treatment long enough to be effective. When we hear of single recoveries from treatment with antibiotics, antivirals, vasodilators, antidiuretics, even acupressure that stimulates vagus nerve function, it can seem less than credible if you don't understand how that could be possible.
In an ideal world I'd like to find a doctor who can sit down with me and take the time to understand my illness, the current scientific picture surrounding it, and go through my testing history with me, and compare that to known CFS look-alike or comorbid conditions and help me fill in any gaps in the testing, specifically looking for common conditions associated with CFS that can also cause neuropathy and microvascular dysfunction to see if any of them are treatable.
The other thing I need is just to be able to sit down with a geneticist and have somebody explain to me what the heck the current landscape of testing for adults with Inborn Errors of Metabolism actually is and what testing still makes sense given my presentation. I need this geneticist to be willing to go through my genetic testing, and look for mutations that match recent results from CFS genetics studies, again, looking for anything that can explain neuropathy or microvascular dysfunction that might be treatable.
The goal in all of this is to try to find out where the problem lives. There are treatments for small fiber neuropathy that might be effective, but they have to target the cause of the problem. Without knowing what you're aiming at, you're just pouring money and time into what might be a bottomless hole, as would be the case for someone with a non treatable cause like a mitochondrial disease, or an uncurable infectious agent.
That said, there are a few treatments I would try without knowing the source of the problem. Chief among these is FMT, which, pardon the yuck factor here, is using someone elses good gut bacteria to reset your own. Gut bacteria in CFS patients is now demonstrably disturbed compared to controls. We have seen reports of complete remissions of the illness with FMT, and there are multiple studies underway, but it will be quite some time before it is scientifically proven who it works for under what conditions. In the meantime, despite the overwhelmingly proven safety of the procedure the FDA has a prohibition in place that makes it functionally impossible to use the most effective pretreatments and delivery methods. FMT is legal in other countries, and is on track to being an approved treatment for everything from mental illness to autoimmune diseases and could be helping a lot of people right now, if the FDA would lift the ban.
Finally, I've given a lot of thought to hyperbaric oxygen therapy which is a series of exposures to high pressure in a pure oxygen environment. If you're thinking, "Wait, how is that helpful if you already have high blood oxygen causing vasoconstriction?" you would be mirroring the thinking of quite a few geneticists right now who can't explain why hyperbaric therapy is helping many mitochondrial disease patients. I have my suspicions that the efficacy of HBOT has more to do with pressure and blood flow than it does with oxygen, but who knows really? I think it's worth a shot, even at a price that can range upwards of 10k for a series of treatments. It does carry risk though. HBOT is powerfully neurogenic and angiogenic, but blood vessels and nerves that grow back rapidly don't always do what you want them to and I worry about worsening my sensory neuropathy, which is tolerable at present.
Becoming educated about an illness is empowering when you can use that to own to improve quality of life, but when you have to interface with a conservative, inefficient medical system to operationalize that information it can be difficult to move forward. Stories of decades long testing journeys for people with rare diseases aren't uncommon, in fact they are the norm for people with adult onset metabolic diseases. Some of these people find answers, treatments, and occasionally cures. The frustrating thing when you look at the time spent, however, is that the overwhelming majority of it is consumed in just waiting. How would you feel if you had a treatable rare disease and it took 30 years to find out what it was?
My biggest question is: What caused the small fiber neuropathy in the first place? This is important because I think that restoring nerve function may be the best hope for people like me to recover.
When I argue with doctors about the importance of doing a thorough workup for ALL known comorbid conditions or look alikes associated with CFS, they generally respond that the condition is a mystery and that there is no benefit in a complex, expensive wild goose chase. When you understand the neuropathic component and the cascade of hemodynamic and inflammatory effects that could potentially stem from it, and superimpose onto that how many known CFS comorbid and trigger conditions are known microvascular or neuropathic agents, suddenly the importance of discovering and treating the underlying cause makes more sense, if someone is willing to listen.
This brings me to the three biggest problems with the medical system. Bandwidth, Ego, and Unfounded Pessimism. If you've read this far you've invested 10 times as much time understanding my situation as any doctor I've ever encountered. Todays doctors simply don't have the time to stay current on what is actually happening with medical science, they don't have enough time to take careful patient histories and do research outside of visits, and they are almost pathologically averse to being educated about medicine from a patient. Furthermore, they almost universally take a negative stance toward an uncertain situation, which of course impacts their judgements on what is and isn't worth putting time and effort into. This leads to a situation where it's impossible to communicate why certain tests, medications, etc. are justified.
A fact that is lost on most medical providers is that small fibers continue to grow throughout life, and absent the environment that damaged them in the first place it is possible for them to regrow slowly over a period of years. This means that even if a person correctly guessed a cause and a correct treatment, that treatment may have to be applied for years to be effective. How many people have the stamina to continue a treatment based on a guess? It's my strong belief that the reason that recoveries from the illness are so rare and never seem to happen the same way twice is because those people just happened to guess correctly and apply a treatment long enough to be effective. When we hear of single recoveries from treatment with antibiotics, antivirals, vasodilators, antidiuretics, even acupressure that stimulates vagus nerve function, it can seem less than credible if you don't understand how that could be possible.
In an ideal world I'd like to find a doctor who can sit down with me and take the time to understand my illness, the current scientific picture surrounding it, and go through my testing history with me, and compare that to known CFS look-alike or comorbid conditions and help me fill in any gaps in the testing, specifically looking for common conditions associated with CFS that can also cause neuropathy and microvascular dysfunction to see if any of them are treatable.
The other thing I need is just to be able to sit down with a geneticist and have somebody explain to me what the heck the current landscape of testing for adults with Inborn Errors of Metabolism actually is and what testing still makes sense given my presentation. I need this geneticist to be willing to go through my genetic testing, and look for mutations that match recent results from CFS genetics studies, again, looking for anything that can explain neuropathy or microvascular dysfunction that might be treatable.
The goal in all of this is to try to find out where the problem lives. There are treatments for small fiber neuropathy that might be effective, but they have to target the cause of the problem. Without knowing what you're aiming at, you're just pouring money and time into what might be a bottomless hole, as would be the case for someone with a non treatable cause like a mitochondrial disease, or an uncurable infectious agent.
That said, there are a few treatments I would try without knowing the source of the problem. Chief among these is FMT, which, pardon the yuck factor here, is using someone elses good gut bacteria to reset your own. Gut bacteria in CFS patients is now demonstrably disturbed compared to controls. We have seen reports of complete remissions of the illness with FMT, and there are multiple studies underway, but it will be quite some time before it is scientifically proven who it works for under what conditions. In the meantime, despite the overwhelmingly proven safety of the procedure the FDA has a prohibition in place that makes it functionally impossible to use the most effective pretreatments and delivery methods. FMT is legal in other countries, and is on track to being an approved treatment for everything from mental illness to autoimmune diseases and could be helping a lot of people right now, if the FDA would lift the ban.
Finally, I've given a lot of thought to hyperbaric oxygen therapy which is a series of exposures to high pressure in a pure oxygen environment. If you're thinking, "Wait, how is that helpful if you already have high blood oxygen causing vasoconstriction?" you would be mirroring the thinking of quite a few geneticists right now who can't explain why hyperbaric therapy is helping many mitochondrial disease patients. I have my suspicions that the efficacy of HBOT has more to do with pressure and blood flow than it does with oxygen, but who knows really? I think it's worth a shot, even at a price that can range upwards of 10k for a series of treatments. It does carry risk though. HBOT is powerfully neurogenic and angiogenic, but blood vessels and nerves that grow back rapidly don't always do what you want them to and I worry about worsening my sensory neuropathy, which is tolerable at present.
Why 'just learning to live with it' is not an option
I've had a lot of well meaning people ask if maybe it's time to stop looking for answers and make the most of the life I've got now? It's a good point, but one that fails to take into account that contentment is impossible when the brain itself is the problem. A healthy brain can find peace through reducing stress, meditation, or maybe therapy. A mildly unhealthy brain can find peace through these things plus improving nutrition and sleep habits. But an inflamed, blood starved brain, is a brain that can't find contentment, period. It's a hardware issue.
To make the point a bit less abstract, as I write this write now I feel reasonably at peace and despite the fact that I feel terrible and can't do much of anything I enjoy. However, if I don't eat for more than 3 hours, if it gets too cold, if I move a stack of wood, or paddle a kayak for just 30 minutes, my brain function plummets and I'm pushed into severe anxiety, disabling mental confusion, and suicidal depression. This bizarre effect, obviously triggered by metabolic stress, slowly dissipates over a period of days and I'm back to my normal self. The problem is, the only way to stay in that state of relative peace is to remain in a supine or kneeling position while being active for less than 4 hours a day, in very warm temperatures, and eat more or less constantly. I guess that's technically possible, but it's not terribly practical. This isn't the sort of thing that can be overcome with antidepressants, self help book or a positive attitude. It's a devastating issue with brain function that overrides any possibility of "just making the best of things."
Living with metabolic dysfunction that affects the brain is the most humiliating, disempowering thing I've ever experienced because it steals my ability to access the warmth and positivity that forms the core of my personality. I've learned to surrender to pain and disability, but it's almost by definition impossible to surrender to dysfunction in the brain. The only choice is to keep searching for answers and hope to find them before the brain dysfunction becomes permanent.
To make the point a bit less abstract, as I write this write now I feel reasonably at peace and despite the fact that I feel terrible and can't do much of anything I enjoy. However, if I don't eat for more than 3 hours, if it gets too cold, if I move a stack of wood, or paddle a kayak for just 30 minutes, my brain function plummets and I'm pushed into severe anxiety, disabling mental confusion, and suicidal depression. This bizarre effect, obviously triggered by metabolic stress, slowly dissipates over a period of days and I'm back to my normal self. The problem is, the only way to stay in that state of relative peace is to remain in a supine or kneeling position while being active for less than 4 hours a day, in very warm temperatures, and eat more or less constantly. I guess that's technically possible, but it's not terribly practical. This isn't the sort of thing that can be overcome with antidepressants, self help book or a positive attitude. It's a devastating issue with brain function that overrides any possibility of "just making the best of things."
Living with metabolic dysfunction that affects the brain is the most humiliating, disempowering thing I've ever experienced because it steals my ability to access the warmth and positivity that forms the core of my personality. I've learned to surrender to pain and disability, but it's almost by definition impossible to surrender to dysfunction in the brain. The only choice is to keep searching for answers and hope to find them before the brain dysfunction becomes permanent.
