It is wonderful to have easy and pain-free ways of finding these conditions. I often test my patients when specialists have told my patients that their problems are "psychological."
I was actually committed to a psych ward because I was in so much pain I could not talk. I could only scream. The ER doctors thought I was crazy or suicidal. Today, I know differently. I was very, very sick with Mito symptoms. I'm still trying to figure it out.
I was diagnosed with Mitochondrial Myopathy in 1993 after a muscle biopsy. Lucky for me it only affected my skeletal muscles. However I had been visiting Doctors for 23 years after suffering severe spasms and breathing difficulties when exercising. I couldn’t walk up ramps or stairs or do any sort of exercise that involved stress. I was explained to me that I lacked an enzyme in my muscle cells that breaks down fats and sugars to make energy. It was such a relief to have someone believe I had been suffering. I now see a geneticist at RNS Hospital in Sydney to confirm whether it is genetic or a genome that started with me. I am no way as bad as these poor children who have a serious case to contend with. 😢😢
Thank you for this my 2 year old was diagnosed with this we just came out of the hospital, he stopped walking and eating and complains of pain its effecting his muscles.. hes brother 5 was diagnosed with eplipsy but they are now testing my 5 year old and me for the deases also.
If nothing else, this demonstrates the fundamental limitations with the current medical treatment paradigm; doctors are trained to think at the system and organ level of the body; there is no concept of the fundamental integration of these organs and systems. Energy production at the cellular level is just not on the radar. Incidentally, type 2 diabetes is essentially a form of mitochondrial dysfunction. The mitochondria become inefficient, and lack the ability to metabolize fats. It's a lack of metabolic flexibility largely due to poor diet and too-frequent eating patterns.
Wow. Thank you for this. And I'm so sorry for your suffering. I truly feel for you. I hope you have found peace, comfort and joy at whatever stage or state you are currently in.
Unfortunately for me while trying to get a diagnosis for my muscle problems a Doctor decided to do a Myleogram, similar to an MRI but it was in 1976 and I was 26 years old and had just had our third child. . This involved removing some spinal fluid, injecting a dye in the canal and taking the pictures. The next step was removing the dye which in my case and many others was not removed. 32 years later I was diagnosed with Arachnoiditis. The dye they injected was toxic and oil based. It could not dissolve back into the body so it tracked through the spinal canal to the thecal sac at the base of the spine and clumped the nerve roots together. This pain was all nerve pain, electric shocks, burning sensation, restless legs, and more muscle problems. There is no cure for either disease. I still think myself lucky compared to these poor children. I had never heard of either disease until I inherited one and was given the other thanks to a drug company. 😢😍
Hello My 2 years daughter has MEalAS,,. So painful for her....doctor have no much knowledge of her situation.... Can anybody help her.....pls if anyone ..pls. I want her treatment.... Pls
my son was just dx last week. 7 years in the dark an finally. his is mito-sd-ha with complex 2. would this help for him. they are trying medical coctail
I know extremely little but I have heard that L-carnitine can help with increasing fat to the mitochondria to help with energy. My son has a genetic disorder we just found out 2 days ago
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It is wonderful to have easy and pain-free ways of finding these conditions. I often test my patients when specialists have told my patients that their problems are "psychological."
I was actually committed to a psych ward because I was in so much pain I could not talk. I could only scream. The ER doctors thought I was crazy or suicidal. Today, I know differently. I was very, very sick with Mito symptoms. I'm still trying to figure it out.
Donna, please tell me where to get this testing? Where are you located?
I was diagnosed with Mitochondrial Myopathy in 1993 after a muscle biopsy. Lucky for me it only affected my skeletal muscles. However I had been visiting Doctors for 23 years after suffering severe spasms and breathing difficulties when exercising. I couldn’t walk up ramps or stairs or do any sort of exercise that involved stress.
I was explained to me that I lacked an enzyme in my muscle cells that breaks down fats and sugars to make energy. It was such a relief to have someone believe I had been suffering. I now see a geneticist at RNS Hospital in Sydney to confirm whether it is genetic or a genome that started with me. I am no way as bad as these poor children who have a serious case to contend with. 😢😢
A good friend of mine passed away this year due to MELAS Syndrome...:'(
R.I.P Philip J De Sousa 08-30-1993-04-05-2017
Thank you for this my 2 year old was diagnosed with this we just came out of the hospital, he stopped walking and eating and complains of pain its effecting his muscles.. hes brother 5 was diagnosed with eplipsy but they are now testing my 5 year old and me for the deases also.
If nothing else, this demonstrates the fundamental limitations with the current medical treatment paradigm; doctors are trained to think at the system and organ level of the body; there is no concept of the fundamental integration of these organs and systems. Energy production at the cellular level is just not on the radar. Incidentally, type 2 diabetes is essentially a form of mitochondrial dysfunction. The mitochondria become inefficient, and lack the ability to metabolize fats. It's a lack of metabolic flexibility largely due to poor diet and too-frequent eating patterns.
Wow. Thank you for this. And I'm so sorry for your suffering. I truly feel for you. I hope you have found peace, comfort and joy at whatever stage or state you are currently in.
My mom has this disease which ultimately cannot be proved, but she has gotten so much better recently.
How did she treat it?
I'm 27 now
I have it and it caused me to have a stroke at 23
Sean Williams That's frightening. I hope you are alright now?
its passed through the women in the family
I am an adult with CVS. Is this test available to adults?
Theres a test
Short chain acyl-CoA dehydrogenase deficiency (SCADD). I need any kind of Information please
I need information about failure in ACAD9 gene. Is there any treatment for a baby?
What is the treatment?
Someone that I love so much ...was diagnosed with leigh syndrome. I wonder if there is any treatment for this kind the condition...Thank you....
so what is the saliva test? where do we get it from?
Background music is annoying & distracting , doesn’t go with the subject 😢 …
Unfortunately for me while trying to get a diagnosis for my muscle problems a Doctor decided to do a Myleogram, similar to an MRI but it was in 1976 and I was 26 years old and had just had our third child. . This involved removing some spinal fluid, injecting a dye in the canal and taking the pictures. The next step was removing the dye which in my case and many others was not removed. 32 years later I was diagnosed with Arachnoiditis. The dye they injected was toxic and oil based. It could not dissolve back into the body so it tracked through the spinal canal to the thecal sac at the base of the spine and clumped the nerve roots together. This pain was all nerve pain, electric shocks, burning sensation, restless legs, and more muscle problems. There is no cure for either disease. I still think myself lucky compared to these poor children. I had never heard of either disease until I inherited one and was given the other thanks to a drug company. 😢😍
Hello
My 2 years daughter has MEalAS,,.
So painful for her....doctor have no much knowledge of her situation....
Can anybody help her.....pls if anyone ..pls.
I want her treatment....
Pls
Chandra Wilson ? omg
I have it to
my son was just dx last week. 7 years in the dark an finally. his is mito-sd-ha with complex 2. would this help for him. they are trying medical coctail
this test did not help me at all
gave my doctor and me no new information
How much does the test cost?
👏👏👏🇧🇷, very good
I have mitochondrial disease also, it's a horrible disease...
i am from czech republic my son has mitochondial disease he 6 month i don't know any information could you please help me?
I know extremely little but I have heard that L-carnitine can help with increasing fat to the mitochondria to help with energy. My son has a genetic disorder we just found out 2 days ago
They always love to label CP! 😢lazy. Social workers are the worst too non medical and high minded. They love to throw accusations