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mitochondal disorder
anyone out there with mitochondral disorder???I would love to hear from you
Hi there...
I just went into a dyspnea of unknown origin clinic after repeated intermittant episodes of severe respiratory failure, lactic acidosis, hypoxia which would randomly clear up and i'd be completely functional (Working 12 hour days at work, taking care of my kid, going to school) But with any illness (even a cold) I end up in intensive care!!
After having an invasive (Swan ganz cath, central line, arterial line) cardio pulmonary stress test, and right heart cath they told me my oxygen uptake at the cellular level (vo2) during stress is poor and shows mitochondrial disorder tendencies plus I had a prolonged high level of serum lactate at 5.2 leaving me unable to even lift my own head for about 12 hours and had severe respiratory muscle impairment requiring bipap for a short time.
My mitochondrial myopathy they tell me is mild, but impaired and furthered by a severe reactive airway and hypothyroid diagnosis. Please tell me all you know and find out... i'm looking for a doc that knows what he's doing becuase i've had so many tell me the shortness of breath, fatigue and air hunger is anxiety... when in fact I was truly ILL! I feel anyones pain, please hang in there!!
I just went into a dyspnea of unknown origin clinic after repeated intermittant episodes of severe respiratory failure, lactic acidosis, hypoxia which would randomly clear up and i'd be completely functional (Working 12 hour days at work, taking care of my kid, going to school) But with any illness (even a cold) I end up in intensive care!!
After having an invasive (Swan ganz cath, central line, arterial line) cardio pulmonary stress test, and right heart cath they told me my oxygen uptake at the cellular level (vo2) during stress is poor and shows mitochondrial disorder tendencies plus I had a prolonged high level of serum lactate at 5.2 leaving me unable to even lift my own head for about 12 hours and had severe respiratory muscle impairment requiring bipap for a short time.
My mitochondrial myopathy they tell me is mild, but impaired and furthered by a severe reactive airway and hypothyroid diagnosis. Please tell me all you know and find out... i'm looking for a doc that knows what he's doing becuase i've had so many tell me the shortness of breath, fatigue and air hunger is anxiety... when in fact I was truly ILL! I feel anyones pain, please hang in there!!
Thank you for responding, I am sorry to hear of anyone having this disorder. My granddaughter just started high school, and so far is doing ok,very tired by the end of the day but hanging in there. Good luck to you . Evelyn
I was recently diagnosed with mitochondrial myopathy. I also have a rare form of Lupus. I am 32 years old with a loving husband and two young daughters. This disease is not fun. I am also on the cocktail of coq10 and L-Carnitine.
Thanks for the info, my granddaughter has suffered with this undiagnosed for years, when she reached puberty it kicked in really hard and she has had a lot of those symptoms. She is on co-enzyme and crinitine (sp) So far able to go to school and tolerate a full day
I whic this stuff would go away it is so hard for her and her mother, thanks, g-ma
I whic this stuff would go away it is so hard for her and her mother, thanks, g-ma
Hello thegranma
Mitochondrial diseases are a group of disorders relating to the mitochondria, the organelles that are the "powerhouses" of the eukaryotic cells that compose higher-order lifeforms (including humans). The mitochondria convert the energy of food molecules into the ATP that powers most cell functions.
The effects of mitochondrial disease can be quite varied. Since the distribution of defective DNA may vary from organ to organ within the body, the mutation that in one person may cause liver disease might in another person cause a brain disorder. In addition, the severity of the defect may be great or small. Some minor defects cause only "exercise intolerance", with no serious illness or disability. Other defects can more severely affect the operation of the mitochondria and can cause severe body-wide impacts. Hope this is useful.
Best
Mitochondrial diseases are a group of disorders relating to the mitochondria, the organelles that are the "powerhouses" of the eukaryotic cells that compose higher-order lifeforms (including humans). The mitochondria convert the energy of food molecules into the ATP that powers most cell functions.
The effects of mitochondrial disease can be quite varied. Since the distribution of defective DNA may vary from organ to organ within the body, the mutation that in one person may cause liver disease might in another person cause a brain disorder. In addition, the severity of the defect may be great or small. Some minor defects cause only "exercise intolerance", with no serious illness or disability. Other defects can more severely affect the operation of the mitochondria and can cause severe body-wide impacts. Hope this is useful.
Best
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