I've suffered with a CFS/ME like problem for over 10 years. Its slowly progressed and I finally understand the cause but not the underlying mechanism. I've been to UCSF, Stanford, Mayo Clinic, John Hopkins and many local doctors. After maybe 40 different doctors, I've yet to hear one try and diagnose based on first principles - Basic Physiology. Maybe they think privately think about it but none really share their process. Has anyone actually seen any Bay Area doctors who might actually "think" rather than pattern match symptoms too a list they have memorized? I'll explain.
I have experienced body-wide and brain hypoxemia that primarily occurs while sleeping but I do experience the beginning of symptoms when very sleepy and my heart rate and O2 saturation are at or near normal minimums ( 52bpm / 92% ). I've come to believe and have good evidence that during my sleep at a minimum heart rate ( below 50bpm), my cells are receiving inadequate oxygen and my muscle begin to have pain and I experience a myriad of neurological symptoms. I've confirmed my Oxygen saturation never drops below 90% and using supplemental O2, I can hold it near 99% with minimal apnea events. I've done this with a home recording pulse oximeter dozens of times.
So with normal O2 saturation, when my heart rate drops to its minimum, hypoxemia begins. So from a physiological point of view:
A---Either my respiratory and circulatory system is somehow producing 97%+ O2 sat at my finger but my cells are not getting enough O2.
OR
B---My cells are getting normal O2 profusion but my mitochondria require more O2 than my circulatory/respiratory system deliver normally at minimum heart rate.
I've had mtDNA sequencing which found 15% of the mitochondria have severely damaged mtDNA with 15% mtDNA 6.3kb deletions damaging 4 complete genes disabling those mitochondria completely - no ATP production. But the mtDNA sequencing was done this year 2021 but it was done at UCSF on a 2017 muscle biopsy sample that was in the freezer. So did freezing damage the sample or was it correct. But that was 2017 and my symptoms are now horrific so has it become far worse. Getting another biopsy is difficult - I think? Does it really require surgery?
Ok that supports B above. But before pressing for another biopsy, is there actually a circulation problem that shows ok O2 sat at my finger but there is not really enough O2 at the cellular levels?
Does anyone know what tests that are simpler might help determine whether A or B is correct and focus looking for a solution?
What would blood CO2 be in these cases. I don't experience any feeling like I need to breath hard upon awakening which suggests my CO2 is normal. No apparent acidosis caused by excess CO2.
What about Lactic Acid or Lactate/pyruvate ratio? Ideas? Doctors who would think like this?
I have experienced body-wide and brain hypoxemia that primarily occurs while sleeping but I do experience the beginning of symptoms when very sleepy and my heart rate and O2 saturation are at or near normal minimums ( 52bpm / 92% ). I've come to believe and have good evidence that during my sleep at a minimum heart rate ( below 50bpm), my cells are receiving inadequate oxygen and my muscle begin to have pain and I experience a myriad of neurological symptoms. I've confirmed my Oxygen saturation never drops below 90% and using supplemental O2, I can hold it near 99% with minimal apnea events. I've done this with a home recording pulse oximeter dozens of times.
So with normal O2 saturation, when my heart rate drops to its minimum, hypoxemia begins. So from a physiological point of view:
A---Either my respiratory and circulatory system is somehow producing 97%+ O2 sat at my finger but my cells are not getting enough O2.
OR
B---My cells are getting normal O2 profusion but my mitochondria require more O2 than my circulatory/respiratory system deliver normally at minimum heart rate.
I've had mtDNA sequencing which found 15% of the mitochondria have severely damaged mtDNA with 15% mtDNA 6.3kb deletions damaging 4 complete genes disabling those mitochondria completely - no ATP production. But the mtDNA sequencing was done this year 2021 but it was done at UCSF on a 2017 muscle biopsy sample that was in the freezer. So did freezing damage the sample or was it correct. But that was 2017 and my symptoms are now horrific so has it become far worse. Getting another biopsy is difficult - I think? Does it really require surgery?
Ok that supports B above. But before pressing for another biopsy, is there actually a circulation problem that shows ok O2 sat at my finger but there is not really enough O2 at the cellular levels?
Does anyone know what tests that are simpler might help determine whether A or B is correct and focus looking for a solution?
What would blood CO2 be in these cases. I don't experience any feeling like I need to breath hard upon awakening which suggests my CO2 is normal. No apparent acidosis caused by excess CO2.
What about Lactic Acid or Lactate/pyruvate ratio? Ideas? Doctors who would think like this?