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After 13 years I believe to have found the root cause of my disease which began with brain fog at 13 years old, POTS at 18, Orthostatic intolerance at 23, PEM at 24, CFS, dysautonomia, peripheral autonomic neuropathy, severe heat intolerance SIBO and gastric issues at 25.
After years of putting off EDS genetic testing due to fears of it being vascular(I have almost every feature of vascular EDS except any acute dissections or facial features) I finally manned up and did Connective tissue panel.
The results were negative for all testable EDSs' however positive for a mutation in MYLK gene. I wasn't very far off with my initial suspicion, I was looking at the wrong layer(connective tissue).
MYLK codes for Myosin Light Chain Kinase, phosphorylator and activator of smooth muscle cell contraction.
MYLK deletions and mutations are known to lead to multisystemic smooth muscle disorder and aneurysms/dissections.
A dysfunction in smooth muscle cells would explain 99% of my list of 30 or so symptoms and issues. Just to list some of the main ones:
-reflex tachycardia/pots( EXPONENTIALLY worse with heat as excess vasodilation from impaired vasoconstriction)\
-PEM(EXPONENTIALLY worse with heat)
-severe blood pooling
-lightheadedness
-severe brain fog
-gastroparesis/Sibo: impaired digestion, explained by GI smooth muscle dysfunction
-large pupils- iris composed of smooth muscle, impaired contraction leads to large pupils
-Sleep apnea
-hypohydrosis- symptom of smooth muscle dysfunction
-peripheral autonomic neuropathy
I am in the process of seeing specialists to further investigate whether this truly is the root cause of my disease. Although I am not too hopeful as the Drs' current strategy is to rule out thousands of other diseases rather than to prove Smooth muscle Dysfunction by testing function/expression of my MCLK enzyme.
thank you for reading and I would love to hear any insights or any alternative ideas as I know it's possible this isn't the root cause of my POTS/OI/PEM/CFS but deep down I feel like this is what is going wrong.
After years of putting off EDS genetic testing due to fears of it being vascular(I have almost every feature of vascular EDS except any acute dissections or facial features) I finally manned up and did Connective tissue panel.
The results were negative for all testable EDSs' however positive for a mutation in MYLK gene. I wasn't very far off with my initial suspicion, I was looking at the wrong layer(connective tissue).
MYLK codes for Myosin Light Chain Kinase, phosphorylator and activator of smooth muscle cell contraction.
MYLK deletions and mutations are known to lead to multisystemic smooth muscle disorder and aneurysms/dissections.
A dysfunction in smooth muscle cells would explain 99% of my list of 30 or so symptoms and issues. Just to list some of the main ones:
-reflex tachycardia/pots( EXPONENTIALLY worse with heat as excess vasodilation from impaired vasoconstriction)\
-PEM(EXPONENTIALLY worse with heat)
-severe blood pooling
-lightheadedness
-severe brain fog
-gastroparesis/Sibo: impaired digestion, explained by GI smooth muscle dysfunction
-large pupils- iris composed of smooth muscle, impaired contraction leads to large pupils
-Sleep apnea
-hypohydrosis- symptom of smooth muscle dysfunction
-peripheral autonomic neuropathy
I am in the process of seeing specialists to further investigate whether this truly is the root cause of my disease. Although I am not too hopeful as the Drs' current strategy is to rule out thousands of other diseases rather than to prove Smooth muscle Dysfunction by testing function/expression of my MCLK enzyme.
thank you for reading and I would love to hear any insights or any alternative ideas as I know it's possible this isn't the root cause of my POTS/OI/PEM/CFS but deep down I feel like this is what is going wrong.