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Mitochondrial


~Naomi~
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Todd-

I hope you don't mind. You seem so certain about the mito connection - I want to know all about it. I could struggle looking through old posts, but it would be easier for me to start fresh. You wrote:

"I had metabolic testing, lumbar puncture (spinal tap), and fresh tissue muscle biopsy. My treatment plan was based on the results from those tests, and a year later I don't feel any different or any better. Naomi you're correct most of the information out there is for known mitochondrial variants, what's new in this testing is looking for breakdowns in the 4 complexs of the respiration chain or oxidative phosphorylation."

What type of Dr. do you see for this and how do you approach the topic? Can I go in and say "I have POTS - can you please test me for a mitochondrial disorder?" I'm serious.

Thanks. :)

ps - I don't really even care that it doesn't change the treatment approach, I just want to know WHY I am like this.

Anyone else diagnosed with this?

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I agree with you Naomi, I needed to know what was causing all of this, and I didn't care if there was treatment or not. I started with a geneticist, they'll run all of the basic blood and urine tests looking for things like CPK, blood lactate, pyruvate, amino acids and enzymes. In my case the geneticist worked out of the MDA clinic in Rochester, NY and she felt very strongly about the dysautonomia mito link. She knew Dr. Shoffner who at the time was only one of two labs doing fresh tissue muscle biopsies. The fresh tissue testing allows them a look at how each complex is functioning. This is also the area Dr Fan Kendall is doing research on a DNA swab test to look at how the oxidative phosphorylation process is functioning (complex 1 - 5) Most new adult mito cases today are classified in how each complex is effected, and not in the older acronyms. So my best advise is to look up on MDA.org and find the closest MDA clinic to you. Make an appointment if you can and talk to them about what's going on for you, they'll know the next best steps. Just because my case turned out to be mito, not everyone will be the same, we're all so very different. Hope this helps and that you find your answers.

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Thank you Todd - this was very helpful. I will also check out the website you mentioned and see what I come up with. Did you need a Dr. referral to see a geneticist or were you able to just make an appointment based on your POTS diagnosis?

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There is no cure but treatments will slow the progress, and lessen some of the pain. Also if you get to the point of not being able to work a mito diagnosis will get disability approval much faster. It's also confirmation of how you're feeling, like not being able to exercise and being told you're lazy or you don't want to get better. For me it's much better knowing what I have, and once testing is cheaper and less intrusive I think we'll find mito involed with many other diseases.

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It's just mentally reassuring to understand what is causing the way you feel. Also, if we can narrow down the cause we can avoid unneccesary (even harmful) treatments. And hopefully (hopefully) target treatment towards the ACTUAL problem.

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