Mitochondrial Clinic

[glenp]

I have just found a couple of these on the internet and wonder if any of you have been to a clinic?

Adult Metabolic Diseases Clinic

Adult Mitochondrial Disorders Clinic

 

[MargeM]

Glenp, I've been to The Mitochondrial and Metabolic Disease Center in San Diego. Were you looking for some specific information about the testing done at these clinics?

I was evaluated there for a suspected mitochondrial disease. Lots of labwork, cardiopulmonary exercise test and a muscle biopsy.

 

[MEKoan]

Excuse me for jumping in here, and with personal questions which you should feel free to ignore but, Marge, do you have a mitochondrial disease or did your diagnosis remain ME/CFS?

If your diagnosis is ME/CFS, did they find mitochondrial abnormalities and, if so, do you mind sharing what there were? It might shed some light on things for the rest of us.

Thankis much!
Koan

 

[MargeM]

Koan,
Unfortunately the tests were inconclusive (there was no evidence of the mitochondrial disease or abnormal cells in the muslce biopsy). So I left there with a diagnosis of myopathy of unknown etiology. I'm actually a FMS patient first but when my symptoms progressed (after using corticosteroid meds) to include diaphragm muscle weakness and breathing difficulty, low lung volume, low carnitine - they decided that mitochondrial disease may be the answer.

I was actually glad to have had the biopsy, despite not learning much more - I did learn that my muscle tissue is 50% lower than normal of CoQ10 and supplementing with that does seem to help. I do also have some strange acetylcarnitine labs (looked like a fatty acid oxidation disorder but tested negative for that). I have MCS, sensory neuropathy, fatigue, muscle pain, insomnia, migraines, air hunger, tachycardia, and others.

I have learned that most of the mito patients have previously been diagnosed with CFS, fibro and MS - so we're all dealing with a lot of the same symptoms. It's also been a challenge to get people tested because so few doctors think of it. They believe it's extremely underdiagnosed for that reason.

 

[glenp]

Marge

Did the mitochondrial clinic prescribe L-carnitine and CoQ10? Were they of any bennefit for you? What were their suggestiions?
Do they say anything of virus, retrovirus or bacteria? Do you think that there is any point in going to a motochondrial clinic?

Thank you Marge

 

[MargeM]

Marge

Did the mitochondrial clinic prescribe L-carnitine and CoQ10? Were they of any bennefit for you? What were their suggestiions?
Do they say anything of virus, retrovirus or bacteria? Do you think that there is any point in going to a motochondrial clinic?

Thank you Marge

Glen, they did suggest I take CoQ10, B complex vitamins and a prescription form of L-carnitine. I improved significantly, but still have many symptoms. It's been a while since I've been a patient at the clinic - I felt like there was no need to continue with follow up visits unless I developed other symptoms or progressed. I seem to be pretty stable and there doesn't seem to be much more they can do for me at this point. These clinics do not generally test for viruses -- and if that's what you're interested in exploring, IMO you won't get much help there. The physicians who treat mitochondrial disease are usually neurologists. I have heard that there are researchers exploring the virus / mitochondria connection - but I don't hear much about it in discussions with physicians.

I wouldn't say it wasn't worth going to one of the mitochondrial clinics, however. Because CFS/ME symptoms overlap with mitochondrial disease symptoms - how would you know what your actual diagnosis is without being tested? (Most mito patients started out with another diagnosis - such as CFS or FMS.) But If you've tested positive for xmrv - I'd be more inclined to seek treatment with an infectious disease doctor than a neurologist at a mitochondrial disease clinic. For me, the confusing issue is - what about the patients who have been diagnosed with a mitochondrial disease and have tested positive for xmrv? Do they actually have both - did xmrv cause a mitochondrial disease (vs a dysfunction or disorder)? Can the mitochondrial experts tell the difference? I don't know. There is a mitochondrial medicine sympsium in Scottsdale next month and I plan on going there - and will hopefully get a chance to chat with some of the researchers and physicians and ask them those questions.

 

[Nina]

Marge, that is very interesting, thanks for posting about your experiences and symptoms here.

In my case it was the other way round, they suspected a mitochondrial disease before I got my M.E. diagnosis. I have abnormal Carnitine as well but the muscle biopsy showed no hereditary mitochondrial disease (that is all they test for) and no muscle disease either. My symptoms are quite similar to yours, but neither Carnitine nor Q10 helped with them. I have to take Carnitine on a daily basis orally plus injections just to stay on the lowest end of the normal range. Can I ask which form you are taking?

Did you have an EMG by any chance and if so, did it present with any irregularities? Mine did, several times actually but when the msucle biopsy came back ok they just dropped the whole subject.

 

[FernRhizome]

I had a muscle biopsy and was diagnosed with mitochondrial cytopathy though I still carry a CFS diagnosis as well. There is overlap......there is a difference between genetic mito disease from birth, and "acquired" mito disease that may be post-pathogen or post-toxin. There are several other older long threads on mito disease on the forum if you google search.

 

[Navid]

For me, the confusing issue is - what about the patients who have been diagnosed with a mitochondrial disease and have tested positive for xmrv? Do they actually have both - did xmrv cause a mitochondrial disease (vs a dysfunction or disorder)? Can the mitochondrial experts tell the difference? I don't know. There is a mitochondrial medicine sympsium in Scottsdale next month and I plan on going there - and will hopefully get a chance to chat with some of the researchers and physicians and ask them those questions.

thanks for sharing all of this very interesting information. if you are able, can you report back to the forum anything you learn at the Scottsdale symposium...it will be very interesting if these folks start looking into xmrv/mito disfunction connections.

thanks

 

[Sunday]

I'll also be interested to hear about the symposium. And I think it would be interesting to check out the xmrv-mito dsyfunction connections, but I can't help remembering the large numbers of PWCs who have not tested positive for xmrv, but still have raging symptoms.

Nina, over at Hidden Story there has been some discussion, on and off, about forms of carnitine. As best as I can gather, some people respond better to l-carnitine-fumarate, and some people respond better to acetyl-l-carnitine. So far I haven't found any difference between the two, so I use the cheaper acetyl-l-carnitine. Since I'm on the methylation protocol, which involves a number of things, I'm not sure how accurate this reading is, and I may tinker with it down the line. But the consensus seems to be that it's individual chemistry that makes one form better than another; you may just have to try each of them and see.

For myself, I have to say that massive doses of ubiquinone/CoQ10 are really helping my OI and PEM (not gone but significantly reduced, and this only after a few trials a couple of weeks long). I started taking 200 mg 2x a day, and that was what made the real difference. I was a little afraid this was an excessive dose, but did find at least one website which recommended taking 200-400mg for heart conditions, where repair is required, not just maintenance. I'm not sure what effect it has on my mitochondria but it must be something because my energy level is definitely better. I'm not instantly healed, but being able to plan and do stuff, even in a mild floppy kind of way, is much better than never knowing when I'll collapse.

 

[Sunday]

Koan, just noted your post. My understanding is that it's at least an accepted theory (if not fact) that all CFS involves mitochondrial dysfunction. It's the mitochondria who package up energy in the form of ATP and send it to the body where needed. The reason why we feel like washrags is because a lot of our mitochondria are on strike. Why that is, no one appears to know.

Rich van K would be the one to explain this fully and scientifically, but I am too brainfoggy now to find a good quote and refer, sorry.

 

[MargeM]

Marge, that is very interesting, thanks for posting about your experiences and symptoms here.

In my case it was the other way round, they suspected a mitochondrial disease before I got my M.E. diagnosis. I have abnormal Carnitine as well but the musle biopsy showed no hereditary mitochondrial disease (that is all they test for) and no muscle disease either. My symptoms are quite similar to yours, but neither Carnitine nor Q10 helped with them. I have to take Carnitine on a daily basis orally plus injections just to stay on the lowest end of the normal range. Can I ask which form you are taking?

Did you have an EMG by any chance and if so, did it present with any irregularities? Mine did, several times actually but when the msucle biopsy came back ok they just dropped the whole subject.

Nina, I have a prescription for carnitor (levocarnitine). I've had several EMGs and they were all normal. I know a lot of people who had no luck finding abnormal mitochondria with a biopsy but were given a clinical diagnosis. You probably hear the stories also, of people getting multiple biopsies and not discovering the genetic mitochondrial disease until years later. A negative biopsy is frustrating because it just leaves us still wondering. I had hoped the xmrv virus would help to distinguish the genetic mitochondrial problems from the acquired - but if with xmrv your DNA changes and your children can inherit it, I'm afraid I'm just as confused as ever. I haven't tested for xmrv yet, but if I do and I'm positive, how would I know if carried this for years (from a parent) and just came across that "thing" which triggered symptoms?

 

[glenp]

There is an interesting video here showing mitochondria damage from amongst other drugs gentamicin, an animoglycoside antibiotic. I believe some of my illness is from this drug. I wonder if testing at a mitochondria clinic (or where?) could confirm this damage. Perhaps many of us have this damage, making our mitochondria more like that of an 80 year old. Doctors have never confirmed this damage to me but from my research on the internet I am almost possitive I have damage from gentamicin


http://www.orlive.com/akronchildrens/mitochondrial