I Have A Diagnosis!

[ellepee]

Hi-

Just thought I'd give an update. It turns out I have a mitochondrial dysfunction which was diagnosed by a muscle biopsy. I'm almost at the 2 year mark of when I suddenly started having all of these bizarre symptoms. POTS was the first thing I was diagnosed with and I'm told I still have that and all the other conditions.

Now that I have a diagnosis I'm still as confused as ever as they have no idea which disease I have under this category so I don't really know what to do with all this. But I guess I now know what direction to put my energy into...

~Elle

[cardiactec]

HEY ELLE,

what are your symptoms that you're having that prompted them to do muscle biopsy?

glad you have gotten some answers! it's a bitter sweet feeling.

[ellepee]

I was told that the muscle biopsy was a shot in the dark as they didn't really expect to find anything...but I guess they were running out of tests to do. It's good to finally have a name to put with things but right now they don't know what type I have so there is not much they can do- all I've added to my regular meds are some high doses of vitamins and supplements. (Does anyone have any recommendations of where to get cheap Coenzyme Q10???)

My main symptoms are:

nausea/vomiting

dizziness & lightheadedness

burning sensation in hands and feet

tinnitus

moments when hearing goes dull

numbness & tingliness

[Sunfish]

hi elle -

i owe you an email and apologize for being so delinquent...things have been pretty crazy on my end and i'm at least a month behind on my inbox.

i'm sure you have mixed feelings about the diagnosis though...good to know but not exactly a diagnosis that anyone wants to have. my phrasology i used in a previous post was that it was a bit like jumping from the frying pan (dysautonomia) into the fire (mito). do they think the mito though is the CAUSE of your POTS or something entirely different?

as you know i have the tentative mito diagnosis based on bloodwork & other testing but no muscle biopsy to date for various reasons (i was starting IVIG treatment, i'll have to go off several meds in advance which may cause me problems, i was on coumadin for blood clots, etc.) i am on a "mito cocktail" of supplements though so thought i would quickly pass some CoQ10 info your way. it is NOT cheap and honestly i wouldn't trust a variety that was significantly cheaper than others. there is one, however, that is more highly regulated/monitored than others on the market so at least you know what you're paying for. obviously it's your call to make but my neuro felt that it was better to take this type & after i did some comparison shopping i realized that i was going to be paying an arm and a leg regardless. the difference with this one is that it is the exact type used for all NIH studies. there is also a chance that this specific formulation may actually become a prescription at some point which could be advantageous for those with prescription med coverage. the website is www.vitalinecoq10.com.

hope this helps. i'll be in touch soon...

melissa

[nadine]

Not sure how much CoQ10 you are to take, but I purchased mine on QVC as part of Nature Code vitamin supplement packages- includes several vitmains, supplements and cost wasn't too bad for 90 day supply.

I believe HSN also carries CoQ10.

The odd thing is I felt like I had increased symptoms when taking the CoQ10- have stopped mine for now.

[ellepee]

Yes, they do think the POTS and everything else is most likely caused by this mitochondrial dysfunction (although I can't get the doctors to say that absolutely). I've had a lot of abnormal tests over the past couple years as I've been searching for answers and no one had been able to piece them together until now.

Thanks for the suggestions for the CoQ10. I have to take 900mg per day. I don't want to pay a fortune but I want to get them from a reputable source. (It's frustrating that even the bulk sizes from wholesale clubs like BJ's and Costco only ends up being like a 12 day supply)

I've only been taking the CoQ10 and other vitamins for about a week now and I feel like I have so much less energy...I thought it was supposed to help with energy. (Until now fatigue has never really been a major symptom)

Right now my docs tell me without knowing the type there is nothing they can do- that I should just take the vitamins and supplements and to continue all the meds for the other conditions I still have (ie POTS, neuropathy)..so hopefully I'll learn more about this new diagnosis soon...

[kmpower]

Hi.

I took a course on Neuroprotection from Catherine Wilner, a neurologist from Durango, Colorado. She says so many neurologic problems and diseases are of mitochondrial origin. Unfortunately, they are not always as simple as a CoQ10 deficiency.

The mitochondria are rich in membranes which are mostly lipid -- which means deficiencies of fatty acids or free radical damage can adversely affect mitochondrial structure and/or function. Since oxidation takes place there, a number of vitamins are used in the pathways, so they may be deficient or not properly used. Toxins and inflammation can affect function there as well.

She may be available as a consultant to your neurologist or if you live anywhere near her, you may want to pay a visit. If I locate a link for her, I will edit this note.

Best wishes for progress and healing. At least you know more about yourself.

OLL

[bttrflyamby1981]

I'm glad you have some answers. I know all to well how it feels to be unsure as to what is going on with your body.

Take care,

Amber

[calypso]

I bought Natrol brand Co-Q10 from the Vitamin Shoppe Web site. It was the cheapest I could find after a couple hours of searching online.

Is it at all possible that the mitochondrial dysfunction develops as a result of POTS? Does anyone know whether that can happen or if the dysfunction is always present from birth? Just curious how this works.

Amy

[kmpower]

Hello again,

Mitochondrial dysfunction is as likely to occur after birth as it is to be genetic/congenital. This is because the mitochondria is so vulnerable to injury, inflammation, toxicity, free radical damage, etc. It is not necessarily permanent, depending on what the dysfunction is.

Some researchers feel that the mitochondria are involved in just about all chronic pathology (being the energy powerhouses of all cells), so I guess that is one way it is related to POTS. Because POTS is not completely understood, it cannot be stated for certain that it causes the mitochondrial dysfunction. It is more probably the other way around.

As to CoQ10, I asked once on a holistic forum what the difference was between the cheapest and most expensive brands (5-fold difference in price). I was informed that the higher the price, the better filtered and safer the product is. The vulnerability of the mitochondria to damage means that the cleaner the product the better. They suggested to get the best product you can afford.

OLL

[Sunfish]

elle -

i'm on the same dosing of CoQ10. my tablets are 300mg so i take three daily, though my doc had me take a few weeks to work up to that amount. for me we think it has helped cognitively though i haven't noticed a thing energy-wise. i couldn't really read for over three months this spring and about a month after starting the CoQ10 i was able to (for limited amounts of time) read a book again (while lying down). it's a "little" thing but HUGE to me. of course there's no way for us to know for certain that it was the supplementation but the timing would fit. i was told it would take at LEAST two weeks to notice anything positive from the CoQ10 but possibly longer, i.e. a month or more. i really hope that it does bring you some improvement(s) in some realm.

amy -

mito dysfunction/disease isn't a result a POTS (or any other dysautonomia) but CAN be the other way around, i.e. mito dysfunction/disorder/disease CAN be the cause of Autonomic Neuropathy and thus POTS, Autonomic Failure, etc.

like OLL said, mito can "come about" in various ways. here's a link that sort of "sums up" mito as much as possible with the understanding to date: http://www.clevelandclinic.org/health/heal....asp?index=6957

OLL -

i'd be curious to know what you're referring to re: it not always being permanant? to date there are no known cures for mito disorders. there are treatments that can definitely bring about improvements depending on the type of dysfunction, but from reading i've done, discussions with doctors, etc. if someone has a definite mito disorder diagnosed via a biopsy it is "permanant" such that it will always be an issue to contend with. for some it is stable & for others progressive, though there is a LOT of variation. the above link sums things up and there is a LOT of info at http://www.umdf.org, including journal articles, info on children vs. adults, etc.

melissa

[kmpower]

Your point is well-taken, Melissa. I was distinguishing between the diseases (the genetic disorders in my mind) and the dysfunctions (in which the mitochondria are not getting or making the nutrients required to function properly). It was perhaps more of a semantic mistake on my part. As I said in another thread, I took a course from Catherine Willner (see below) which was largely on acquired mitochondrial problems. She has had success with unusual syndromes based upon a functional approach.

http://www.crayhonresearch.com/audio-archi...al_Medicine.asp

Catherine Willner, MD - Dr. Catherine Willner is a neurologist with a busy practice in Durango, CO. In this presentation, she speaks on the importance of oxidative stress and the reasons for measuring it. Dr. Willner considers herself a functional practitioner; someone who focuses not on the diagnosis itself, but rather on the physiology underlying what might have led to a particular diagnosis. With this in mind, she delves into the subject of testing for oxidative stress and gives you an in-depth look at the basis of these tests, what they are for, and how they work. Her discussion of neuro-degenerative diseases and nutrition emphasizes the role of the mitochondria, explaining how the dysfunction of the mitochondria can affect a multitude of issues in the human body such as liver disease, kidney failure, and numerous neurological syndromes. According to Dr. Willner, many episodic disorders treated by neurologists, such as migraines, are mitochondrially-based dysfunctions and there, manifestations of disorders of energy metabolism. Dr. Willner advocates the idea that if you treat the things that would support mitochondrial function in terms of being able to produce more energy more efficiently on demand, often the patient's symptoms will get better.