SmokinJoeFraz93
Senior Member
- Messages
- 194
- Location
- United Kingdom
For around 5 years I have been convinced from the bottom of my heart that I have had ME/CFS, however since delving into my genetics, it has come to my attention that I may not have ME/CFS, but two conditions - Glycogen Storage Disease Type 5 (McArdles’s Disease) and Autism Spectrum Disorder.
McArdle’s Disease is an autosomal recessive disorder (which I have NOT had and official diagnosis) which is caused by a lack or reduced enzyme of myophosphorylase, the enzyme that breaks down glycogen down to glucose-1-phosphate, which is encoded by the PYGM gene, which I have a SNP. Symptoms of GSD5 include complete exercise intolerance (ANY activity that requires the muscles to work such as something little as brushing my hair). Classic presentation of this condition includes rhabdomyolisis (breakdown of muscle), muscle cramps, extreme muscle fatigue and lack and intense muscle pain throughout the entire body, depending on which muscle is being used.
There is a phenomena called “second wind”, which an individual with GSD5 will feel intense fatigue and pain within the first 10 minutes or so of exercise, which exertion must be stopped, and then the patient can continue some sort of exercise within the individuals exercise capacity depending how fit and conditioned they are.
[FONT=Roboto, HelveticaNeue, Arial, sans-serif]I do not have rhabdomyloisis, but my entire body experiences EXTREME muscle pain and fatigue, and delayed muscle recovery. Over the course of a year, I have gone from using a wheel chair to walking nearly 5,000 steps a day (according to my Fitbit).[/FONT]
A Ketogenic diet is recommended for this disease as it is more efficient as in GSD5 the patient can’t store or break down glycogen properly due to the lack of the enzyme myophosphorylase, which I do not follow due to rigidity in my diet. However, I do fast 18-20 hours daily, and if I do not eat enough carbs, my muscles become in terrible condition and I am absolutely exhausted.
[FONT=Roboto, HelveticaNeue, Arial, sans-serif]in terms of my central nervous system, it is in my subjective experience that a serotonin noradrenaline reuptake inhibiter (Effexor/Venlafaxine) had completely ruined my brain which left me housebound with the worst sensory overload I have ever experienced. No human contact, no technology or any sound could be tolerated. Just laying down with central fatigue in absolute silence unable to tolerate a humming sound. [/FONT]
[FONT=Roboto, HelveticaNeue, Arial, sans-serif]I genuinely believe multiple neurotransmitters were affected including noradrenaline, glutamate, serotonin and even GABA. How this occurred, I wish I could explain. However, after over a year in complete isolation, I decided to try marijuana, which coincidentally has a potent effect on dopamine and glutamate receptors (to put it lightly). I have tried other GABA binding substances including lithium orotate and Amanita Muscaria (a potential toxic mushroom that mimics GABA receptors) and nicotine vaped which has brought my brain into a more healing state. How? I have no clue...[/FONT]
[FONT=Roboto, HelveticaNeue, Arial, sans-serif]Nowadays, I am able to tolerate all sounds and light without any substance, although I use nicotine in a vape to help restless legs syndrome-type symptoms that I believed was caused by the SNRI inhibitor. When I was housebound, I was nearly 19 stone, and now I’m 13 stone and have a girlfriend who I see basically everyday. I no longer need time alone as my CNS can tolerate incredible stimuli. The medication robbed me of the ability to wash properly and even tie my shoe laces.[/FONT]
[FONT=Roboto, HelveticaNeue, Arial, sans-serif]Why do I think the SNRI had such a detrimental affect in my CNS? Well the fact I’m a high functioning Autistic and the way which my brain perceives sensory stimuli and the way in which it processes sensory stimuli is somewhat different to the ‘normal’ folk. Also, when tapering down from Effexor/Venlafaxine, the withdrawal/permanent symptoms started to appear which was incredibly alarming and rapid.
[FONT=Roboto, HelveticaNeue, Arial, sans-serif]So I genuinely believe I never had ME/CFS, as my first symptoms were ALL muscle related brought on by intense exercise (boxing) and I had no other symptoms until I started and reduced my medication (the SNRI inhibitor).[/FONT]
[FONT=Roboto, HelveticaNeue, Arial, sans-serif]I am looking to seek a competent neurologist and thorough examinations with my gene sequencing. Until then, I can only speculate that I have GSD5 and not ME/CFS.[/FONT]
[FONT=Roboto, HelveticaNeue, Arial, sans-serif]This has been the loneliest- most heartbreaking journey ever, and I have regressed even deeper into my autism due to hardly any human contact. I am on the mend and I can only see myself progressing from here on. [/FONT]
Once I am able to get fully assessed for my physical condition, I will update this post with the results.
I would like to wish everyone a Merry Christmas, and my heart and thoughts are with you.
McArdle’s Disease is an autosomal recessive disorder (which I have NOT had and official diagnosis) which is caused by a lack or reduced enzyme of myophosphorylase, the enzyme that breaks down glycogen down to glucose-1-phosphate, which is encoded by the PYGM gene, which I have a SNP. Symptoms of GSD5 include complete exercise intolerance (ANY activity that requires the muscles to work such as something little as brushing my hair). Classic presentation of this condition includes rhabdomyolisis (breakdown of muscle), muscle cramps, extreme muscle fatigue and lack and intense muscle pain throughout the entire body, depending on which muscle is being used.
There is a phenomena called “second wind”, which an individual with GSD5 will feel intense fatigue and pain within the first 10 minutes or so of exercise, which exertion must be stopped, and then the patient can continue some sort of exercise within the individuals exercise capacity depending how fit and conditioned they are.
[FONT=Roboto, HelveticaNeue, Arial, sans-serif]I do not have rhabdomyloisis, but my entire body experiences EXTREME muscle pain and fatigue, and delayed muscle recovery. Over the course of a year, I have gone from using a wheel chair to walking nearly 5,000 steps a day (according to my Fitbit).[/FONT]
A Ketogenic diet is recommended for this disease as it is more efficient as in GSD5 the patient can’t store or break down glycogen properly due to the lack of the enzyme myophosphorylase, which I do not follow due to rigidity in my diet. However, I do fast 18-20 hours daily, and if I do not eat enough carbs, my muscles become in terrible condition and I am absolutely exhausted.
[FONT=Roboto, HelveticaNeue, Arial, sans-serif]in terms of my central nervous system, it is in my subjective experience that a serotonin noradrenaline reuptake inhibiter (Effexor/Venlafaxine) had completely ruined my brain which left me housebound with the worst sensory overload I have ever experienced. No human contact, no technology or any sound could be tolerated. Just laying down with central fatigue in absolute silence unable to tolerate a humming sound. [/FONT]
[FONT=Roboto, HelveticaNeue, Arial, sans-serif]I genuinely believe multiple neurotransmitters were affected including noradrenaline, glutamate, serotonin and even GABA. How this occurred, I wish I could explain. However, after over a year in complete isolation, I decided to try marijuana, which coincidentally has a potent effect on dopamine and glutamate receptors (to put it lightly). I have tried other GABA binding substances including lithium orotate and Amanita Muscaria (a potential toxic mushroom that mimics GABA receptors) and nicotine vaped which has brought my brain into a more healing state. How? I have no clue...[/FONT]
[FONT=Roboto, HelveticaNeue, Arial, sans-serif]Nowadays, I am able to tolerate all sounds and light without any substance, although I use nicotine in a vape to help restless legs syndrome-type symptoms that I believed was caused by the SNRI inhibitor. When I was housebound, I was nearly 19 stone, and now I’m 13 stone and have a girlfriend who I see basically everyday. I no longer need time alone as my CNS can tolerate incredible stimuli. The medication robbed me of the ability to wash properly and even tie my shoe laces.[/FONT]
[FONT=Roboto, HelveticaNeue, Arial, sans-serif]Why do I think the SNRI had such a detrimental affect in my CNS? Well the fact I’m a high functioning Autistic and the way which my brain perceives sensory stimuli and the way in which it processes sensory stimuli is somewhat different to the ‘normal’ folk. Also, when tapering down from Effexor/Venlafaxine, the withdrawal/permanent symptoms started to appear which was incredibly alarming and rapid.
[FONT=Roboto, HelveticaNeue, Arial, sans-serif]So I genuinely believe I never had ME/CFS, as my first symptoms were ALL muscle related brought on by intense exercise (boxing) and I had no other symptoms until I started and reduced my medication (the SNRI inhibitor).[/FONT]
[FONT=Roboto, HelveticaNeue, Arial, sans-serif]I am looking to seek a competent neurologist and thorough examinations with my gene sequencing. Until then, I can only speculate that I have GSD5 and not ME/CFS.[/FONT]
[FONT=Roboto, HelveticaNeue, Arial, sans-serif]This has been the loneliest- most heartbreaking journey ever, and I have regressed even deeper into my autism due to hardly any human contact. I am on the mend and I can only see myself progressing from here on. [/FONT]
Once I am able to get fully assessed for my physical condition, I will update this post with the results.
I would like to wish everyone a Merry Christmas, and my heart and thoughts are with you.
