Post moved from UK: Beth Dobbin -- BBC: The Olympic sprinter now bedbound for 22 hours a day
I spent the majority of the last 10 years of my "ME/CFS" lying flat because I didn't have the energy to stand or even sit up. I had to stop teaching because I couldn't stand for an entire 50 minute lecture. I've tried many of the suggested therapies. I was a supreme pacer. Even in my worst times, I could rise from bed to walk and shop at the store, work out three times a week in the gym, walk more than an hour a day. My exercise was inconsistent with the typical definition of PEM used in ME/CFS.
I suspected what I had was a familial muscle disease. I had full genome sequencing done and it revealed a CPT2 deficiency, classified as "benign" or "harmless" because it doesn't kill you. This is in the general class of fatty acid oxidation disorders, where the body has an inability to burn fat. In the CPT2 case, burning fat creates byproducts which causes more problems. Think of a house with an oil burning furnace and a wood stove. The wood stove is used for quick heating tasks, but we rely mostly on the furnace. Now imagine the furnace becomes intermittent smokes up the house while in use.
CPT2 deficiency has a possibly severe childhood phase, a teenage phase and a myopathic adult stage. By adulthood most people have quietly and unknowingly adapted to their circumstances. Severe cases, where adults push well past boundaries they are not adapted to end up in emergency departments with often severe rhabdomyolysis. Even when a correct diagnosis is made, they are largely sent home with the advice of "eat a better diet" and "don't do that kind of exercise again". The lack of screening or followup, coupled with individual adaptation, keeps a rare disease rare.
i turned to sports physiology for the positive spin. Athletes diagnosed with CPT2 can't engage well in any exercise where their bodies switch from burning carbohydrates to burning fat. One of the suggested sports where this glucose burning metabolism excels is "sprinter". Depending on the type of exercise, glycogen storage is good for not much more than an hour. hour. All the exercise activity I was engaging in was under an hour. I had a "social activities" rule that kept to under an hour.
What I had was a fueling problem. The standard solution for CPT2 deficiency is a low fat diet, proper distribution and use of carbohydrates and use of MCT oil as a lighter substitute fat which can be processed by my body.
The results were transformational. I wake up in the mornings clear headed and practically springing from bed. I rarely nap. All my former "ME/CFS" symptoms have disappeared.
At the very least, this form of fatty acid oxidation disorder is an ME/CFS mimic. The "benign" form of CPT2 deficiency is surprisingly common. ME/CFS studies should exclude this condition rather than allowing it to appear in both subjects and controls. I also believe that the fatty acid oxidation people from UAB (See the thread on their paper) are following an interesting lead which deserves more funding.
I spent the majority of the last 10 years of my "ME/CFS" lying flat because I didn't have the energy to stand or even sit up. I had to stop teaching because I couldn't stand for an entire 50 minute lecture. I've tried many of the suggested therapies. I was a supreme pacer. Even in my worst times, I could rise from bed to walk and shop at the store, work out three times a week in the gym, walk more than an hour a day. My exercise was inconsistent with the typical definition of PEM used in ME/CFS.
I suspected what I had was a familial muscle disease. I had full genome sequencing done and it revealed a CPT2 deficiency, classified as "benign" or "harmless" because it doesn't kill you. This is in the general class of fatty acid oxidation disorders, where the body has an inability to burn fat. In the CPT2 case, burning fat creates byproducts which causes more problems. Think of a house with an oil burning furnace and a wood stove. The wood stove is used for quick heating tasks, but we rely mostly on the furnace. Now imagine the furnace becomes intermittent smokes up the house while in use.
CPT2 deficiency has a possibly severe childhood phase, a teenage phase and a myopathic adult stage. By adulthood most people have quietly and unknowingly adapted to their circumstances. Severe cases, where adults push well past boundaries they are not adapted to end up in emergency departments with often severe rhabdomyolysis. Even when a correct diagnosis is made, they are largely sent home with the advice of "eat a better diet" and "don't do that kind of exercise again". The lack of screening or followup, coupled with individual adaptation, keeps a rare disease rare.
i turned to sports physiology for the positive spin. Athletes diagnosed with CPT2 can't engage well in any exercise where their bodies switch from burning carbohydrates to burning fat. One of the suggested sports where this glucose burning metabolism excels is "sprinter". Depending on the type of exercise, glycogen storage is good for not much more than an hour. hour. All the exercise activity I was engaging in was under an hour. I had a "social activities" rule that kept to under an hour.
What I had was a fueling problem. The standard solution for CPT2 deficiency is a low fat diet, proper distribution and use of carbohydrates and use of MCT oil as a lighter substitute fat which can be processed by my body.
The results were transformational. I wake up in the mornings clear headed and practically springing from bed. I rarely nap. All my former "ME/CFS" symptoms have disappeared.
At the very least, this form of fatty acid oxidation disorder is an ME/CFS mimic. The "benign" form of CPT2 deficiency is surprisingly common. ME/CFS studies should exclude this condition rather than allowing it to appear in both subjects and controls. I also believe that the fatty acid oxidation people from UAB (See the thread on their paper) are following an interesting lead which deserves more funding.
Last edited by a moderator:
