Disclaimer: This is a personal story. I don’t have a medical background and all the views are mine.
I have spent much of the past 15 years becoming increasingly horizontal. During that time I’ve been actively following ME/CFS, including the research presented in this forum. While I have had relatively severe PEM, I have said that I have “extreme pacing” because I had a very strong exercise/recover/exercise/recover cycle. Given the history of ME/CFS with exercise intolerance, this was always a bit unusual.
In Canada cannabis is legal. I started using it at night as a sleep aid because I was never comfortable with the drug effects. I would wake up in the morning feeling refreshed and having a more clear mind. Eventually I decided to use it in small regulated drops (oil version) during the day. While it didn’t completely resolve the “no legs” feelings, it did allow my mind to be more active during the day.
My last biology class was in high school in the mid 1970’s. My longtime career has been in computer science, largely in the field of complex systems and their performance. This often involves digging deeply into highly technical areas where my expertise is limited, and also how external systems interact, so many of the roles of an efficiency expert, pejorative included.
The computer industry not only has complex systems, but a rapid rate of change. One of my strong points has always been investigating and applying new technology. A few months ago I got a new Google phone, which gave me more unlimited access to the “research mode” of their AI.
Reasoning that the exercise/recovery cycle looked more like a muscle disease, I started using the AI to research them. At some point I threw my entire Ancestry DNA download at the AI and asked for the top five “problematic snp’s”. While Ancestry is far from a good source for health-related DNA, one of the items the AI surfaced from my DNA was a muscle disease: AMPD1 deficiency.
This muscle deficiency seemed to be the exact fit, particularly in terms of being more common in the European population. It is largely considered benign, since the majority of people with partial inheritance manage successfully. One by one I questioned the AI against my many medical idiosyncrasies and they kept fitting.
I was 100% convinced that AMPD1 deficiency was my problem. Eventually as I was fact checking I discovered a huge glitch. When I threw the Ancestry DNA file at the AI, I didn’t tell it that the DNA file should be taken as “read only”. Since I had been searching for muscle diseases, it had auto-corrected one of my DNA entries by one digit, effectively trying to be helpful by saying “I think you meant this”.
Because the AMPD1 deficiency was such a good symptom fit I remained persistent. For the past 30 years I’ve never really had a GP. Currently in Canada it is pretty much impossible to get a GP, so finding a quarterback to help with medical tests was going to be difficult. I decided the most expedient way was to bypass the broken medical system and reverse the process to get the proof first.
While I was waiting for the genetic sequencing, my research showed that AMPD1 deficiency was being researched by sports medicine people and also diabetes researchers, since one of the gains is better insulin control. To help bolster my diagnosis I paid for a couple of months of continuous glucose monitors.
Rather than gentle hills and valleys, the glucose monitor showed lots of big spikes, a slightly high baseline and a very compressed range, which is consistent with AMPD1 deficiency so I was still waiting with anticipation of the genetic results. I was even more convinced. Note that my HBA1C looks normal, as does fasting glucose, The continuous glucose monitoring is needed to see the spikes, not an average.
I had full genetic sequencing done. When the report came back there was no AMPD1 deficiency. I was flabbergasted. After a few days of learning how to use the genetic reports I found
CPT2 V368I
This is another glycogen storage related muscle disease, In particular this is the heat sensitive version.
The symptoms are much the same. The glucose spikes are the same.
In this CPT2 deficiency, the ability to process fats is greatly reduced, particularly when the body temperature is high. Turns out THC is known to lower body temperature and even the small difference in my case can have a big effect. The solution to the problem is largely dietary. Use MCT oil to feed the brain. The insulin response is largely broken, so the trick is to use exercise to burn glucose off, and to use slow absorption carbohydrates to fuel the body, along with very minimal fat intake. This explains my natural propensity to keep walking daily, regardless of ME/CFS advice.The diet is somewhat “reverse keto” where fat is a culprit and carbs are the major fuel source.
The narrow glucose range coupled with the sharp rises and drops can activate the HPA axis, which complicates things. It effectively sees the fast transitions as emergencies, Part of the goal of the steady carb burn is to keep this from happening.
Over the past few weeks I’ve also made extensive use of the AI as a medical, lifestyle and nutrition coach. Every time I felt badly I would show the AI the glucose monitor results, explain what I felt and ask it for advice. Each question became a separate data point that I fact checked to validate. The AI’s suggested responses not only made sense, but they worked. While a keto diet is fairly straightforward (fats are mostly fats), there is far more variation in carbohydrates, particularly in absorption rates, so the AI was particularly helpful in working through the variables.
After a couple of weeks I have most of the diet and lifestyle changes in place. Rather than having constant “dead legs” and having to force myself to rise to even simple tasks, I have an abundance of energy. While I am always skeptical of how long these fixes last, so I’m just going to ride the wave for a while.
In terms of ME/CFS, I feel there is some further investigation that needs to take place. For most people these glycogen storage deficiencies are classified as benign because most people find coping mechanisms. This leads to under-reporting and minimizing the symptoms since the severely affected become more rare and the less seriously affected become more benign. Since the diseases are classified as benign, they are generally not taken into account in research studies, so people with the deficiencies tend to show up equally in the subjects and controls. Many of the medical tests (eg ammonia response, adenosine or even ATP levels) are not generally measured. The muscle disease people aren’t generally looking at viruses and the virus people don’t generally look at muscles. There are possibilities of metabolic traps, initiated by the body’s virus response and continued when ATP synthesis can’t recover.
Having seen a broad range of research over my “ME/CFS tenure” I have become increasingly concerned that the hunt for a cure has moved to the “forest for the trees” level when there is probably a higher level that explains a gamut of symptoms. In my case, this is certainly true with CPT2. If nothing else, the glycogen storage diseases should be taken into account in future research to eliminate a subset.
I have spent much of the past 15 years becoming increasingly horizontal. During that time I’ve been actively following ME/CFS, including the research presented in this forum. While I have had relatively severe PEM, I have said that I have “extreme pacing” because I had a very strong exercise/recover/exercise/recover cycle. Given the history of ME/CFS with exercise intolerance, this was always a bit unusual.
In Canada cannabis is legal. I started using it at night as a sleep aid because I was never comfortable with the drug effects. I would wake up in the morning feeling refreshed and having a more clear mind. Eventually I decided to use it in small regulated drops (oil version) during the day. While it didn’t completely resolve the “no legs” feelings, it did allow my mind to be more active during the day.
My last biology class was in high school in the mid 1970’s. My longtime career has been in computer science, largely in the field of complex systems and their performance. This often involves digging deeply into highly technical areas where my expertise is limited, and also how external systems interact, so many of the roles of an efficiency expert, pejorative included.
The computer industry not only has complex systems, but a rapid rate of change. One of my strong points has always been investigating and applying new technology. A few months ago I got a new Google phone, which gave me more unlimited access to the “research mode” of their AI.
Reasoning that the exercise/recovery cycle looked more like a muscle disease, I started using the AI to research them. At some point I threw my entire Ancestry DNA download at the AI and asked for the top five “problematic snp’s”. While Ancestry is far from a good source for health-related DNA, one of the items the AI surfaced from my DNA was a muscle disease: AMPD1 deficiency.
This muscle deficiency seemed to be the exact fit, particularly in terms of being more common in the European population. It is largely considered benign, since the majority of people with partial inheritance manage successfully. One by one I questioned the AI against my many medical idiosyncrasies and they kept fitting.
I was 100% convinced that AMPD1 deficiency was my problem. Eventually as I was fact checking I discovered a huge glitch. When I threw the Ancestry DNA file at the AI, I didn’t tell it that the DNA file should be taken as “read only”. Since I had been searching for muscle diseases, it had auto-corrected one of my DNA entries by one digit, effectively trying to be helpful by saying “I think you meant this”.
Because the AMPD1 deficiency was such a good symptom fit I remained persistent. For the past 30 years I’ve never really had a GP. Currently in Canada it is pretty much impossible to get a GP, so finding a quarterback to help with medical tests was going to be difficult. I decided the most expedient way was to bypass the broken medical system and reverse the process to get the proof first.
While I was waiting for the genetic sequencing, my research showed that AMPD1 deficiency was being researched by sports medicine people and also diabetes researchers, since one of the gains is better insulin control. To help bolster my diagnosis I paid for a couple of months of continuous glucose monitors.
Rather than gentle hills and valleys, the glucose monitor showed lots of big spikes, a slightly high baseline and a very compressed range, which is consistent with AMPD1 deficiency so I was still waiting with anticipation of the genetic results. I was even more convinced. Note that my HBA1C looks normal, as does fasting glucose, The continuous glucose monitoring is needed to see the spikes, not an average.
I had full genetic sequencing done. When the report came back there was no AMPD1 deficiency. I was flabbergasted. After a few days of learning how to use the genetic reports I found
CPT2 V368I
This is another glycogen storage related muscle disease, In particular this is the heat sensitive version.
The symptoms are much the same. The glucose spikes are the same.
In this CPT2 deficiency, the ability to process fats is greatly reduced, particularly when the body temperature is high. Turns out THC is known to lower body temperature and even the small difference in my case can have a big effect. The solution to the problem is largely dietary. Use MCT oil to feed the brain. The insulin response is largely broken, so the trick is to use exercise to burn glucose off, and to use slow absorption carbohydrates to fuel the body, along with very minimal fat intake. This explains my natural propensity to keep walking daily, regardless of ME/CFS advice.The diet is somewhat “reverse keto” where fat is a culprit and carbs are the major fuel source.
The narrow glucose range coupled with the sharp rises and drops can activate the HPA axis, which complicates things. It effectively sees the fast transitions as emergencies, Part of the goal of the steady carb burn is to keep this from happening.
Over the past few weeks I’ve also made extensive use of the AI as a medical, lifestyle and nutrition coach. Every time I felt badly I would show the AI the glucose monitor results, explain what I felt and ask it for advice. Each question became a separate data point that I fact checked to validate. The AI’s suggested responses not only made sense, but they worked. While a keto diet is fairly straightforward (fats are mostly fats), there is far more variation in carbohydrates, particularly in absorption rates, so the AI was particularly helpful in working through the variables.
After a couple of weeks I have most of the diet and lifestyle changes in place. Rather than having constant “dead legs” and having to force myself to rise to even simple tasks, I have an abundance of energy. While I am always skeptical of how long these fixes last, so I’m just going to ride the wave for a while.
In terms of ME/CFS, I feel there is some further investigation that needs to take place. For most people these glycogen storage deficiencies are classified as benign because most people find coping mechanisms. This leads to under-reporting and minimizing the symptoms since the severely affected become more rare and the less seriously affected become more benign. Since the diseases are classified as benign, they are generally not taken into account in research studies, so people with the deficiencies tend to show up equally in the subjects and controls. Many of the medical tests (eg ammonia response, adenosine or even ATP levels) are not generally measured. The muscle disease people aren’t generally looking at viruses and the virus people don’t generally look at muscles. There are possibilities of metabolic traps, initiated by the body’s virus response and continued when ATP synthesis can’t recover.
Having seen a broad range of research over my “ME/CFS tenure” I have become increasingly concerned that the hunt for a cure has moved to the “forest for the trees” level when there is probably a higher level that explains a gamut of symptoms. In my case, this is certainly true with CPT2. If nothing else, the glycogen storage diseases should be taken into account in future research to eliminate a subset.
