Mitochodrial Disease

[Broken_Shell]

Hi,

I am wondering if anyone here has ever been tested for or suspected of having a mitochondrial disorder. My neurologist thinks that I may have an adult-onset mitochondrial disorder in addition to dysautonomia, and genetic mitochondrial testing that I had done several months ago showed a few "undetermined" mutations. She sent my records and is waiting to hear back from a Dr. Cohen at Cleveland Clinic who does research in this area. I did a little reading about adult onset mitochondrial disorders, and one of the symptoms is dysautonomia. I was quite surprised at the overlap between dysautonomia and adult mitochondrial disorders and would enjoy hearing from anyone who has any knowledge on this topic. Below are the links that I was reading if anyone is interested...

http://www.umdf.org/site/c.dnJEKLNqFoG/b.3...69/fontfont.htm

http://my.clevelandclinic.org/disorders/Mi...al_Disease.aspx

http://my.clevelandclinic.org/disorders/Mi...l_Diseases.aspx

Thank you in advance!

~ Broken_Shell

[toddm1960]

Hey Shell,

My neurologist had the same thought, I couldn't get in to see a Genetics specialist for 3 months but my appt is next month. Please keep us posted on what you find out. Dr Cohen is one of the leading doctors in the U.S. in this field. Good luck.

Edited May 31, 2009 by flop
Quotation removed, please use the "add reply" button at the bottom of the page

[Rachel]

Dr. Grubb and Dr. Cohen both believe that I have a mitochondrial disease as a root cause of my dysautonomia. In fact, Dr. Cohen said he thinks that I definitely do. There are a couple of other members here who also have mito as a possibility. You can do a search and see some of our discussions in the past. There haven't been many, but it may provide you with a little bit of information.

I have had all of the initial blood work done, which showed some abnormalities, thought not enough for a firm/specific diagnosis. I've had the skin biopsy, but that didn't give any clear results. I've chosen not to do the muscle biopsy at this time, though I may consider it sometime in the future. Dr. Cohen is hoping that in a few years there will be better diagnostic testing available for me.

I hope you can find the answers you are looking for.

Rachel

[ramakentesh]

Unfortunately I doubt most POTS patients are investigated for this and there is limited research on this area. is there anything specific to your condition that suggests a midocrondrial basis?

[jjb]

Ava will be seeing a mito neurologist this summer.

I probably will not go through extensive testing, but will probably give the mito cocktail a try since a very similar cocktail ise also used to treat EDS symptoms.

[Aprilmarie52]

My daughter has a diagnosed mitochondrial disorder. The only way to get a definitive diagnose of a mitochondrial disorder is through a live muscle biopsy. Genetic tests can point in the direction of a mitochondrial disorder. Good luck with your testing!

[Rachel]

April,

Does your daughter have dysautonomia as a result of mito?

I ask because Dr. Cohen said that in his experience, those who have dysautonomia due to a mitochondrial disease can't be diagnosed with a muscle biopsy. With dysautonomia due to mito it is the nerves that are the most effected, thus the skin biopsy (taken under the arm where there are more nerves because of sweat glands) is more likely to show mito than a muscle biopsy.

This is one of the main reasons I have chosen not to do the muscle biopsy. Because my nerves are primarily effected, not my muscles, he didn't think the muscle biopsy would prove helpful. I don't want to go through that pain, trouble, and expense if it likely won't show anything.

Just curious what your thoughts/experiences are. I've only heard of one person with dysautonomia and mito who was diagnosed via muscle biopsy. Perhaps there are more?

Rachel

[Aprilmarie52]

She is only 4 and does not have a dysautonomia diagnosis, but has not been tested. Mito disorders can affect any and all organ systems. Hers affects her muscles and also affects her neurologically. The dr that we saw suggested the muscle biopsy to test. He also took a skin sample from the same area as well as spinal fluid. I am not sure which of the tests lead to the mito diagnosis. I have copies of the test results, but it is like trying to decipher code. We saw Dr. John Shoffner in Atlanta.

[jjb]

"I ask because Dr. Cohen said that in his experience, those who have dysautonomia due to a mitochondrial disease can't be diagnosed with a muscle biopsy."

Really? We are getting ready to go down the mito path and I thought dysautonomia was pretty common with mito in general which is often DXed through the muscle biopsy (which I won't do right now).

" With dysautonomia due to mito it is the nerves that are the most effected, thus the skin biopsy (taken under the arm where there are more nerves because of sweat glands) is more likely to show mito than a muscle biopsy."

Two questions:

1. So does the skin biopsy test for mito issues specifically, or are they looking for something else and they assume a mito issue based on results.

2. Is under the arm the only place to test?

At our exam, the took the sample for biopsy on our leg. For me it was lower leg a few inches above ankle and on the thigh.

FOr Ava they just did lower leg. And this is where they placed the electrodes for sweat test too.

But I know for this biopsy they were looking for neuropathy ... can they tell if there is an abnormality of mitochondria with this same biopsy?

Thanks,

Jen

[dawson20]

I am currently being investigated for this - will be seeing the Canadian specialist next month for a repeat muscle biopsy (had an inconclusive biopsy in '05 - pathology was abnormal but 'resp chain' testing was normal).

My 6 year old son has confirmed mitochondrial encephalomyopathy - complex 1 deficiency (diagnosed through a muscle biopsy)- so we have been immersed in the 'mitoworld' for some time now. I actually have had issues my whole life but it wasnt until brandons diagnosis that we finally got direction to what might be the source of my issues.

I stepped back from finding answers to my own health stuff for quite a while and just 'maintained' as best I could while we were dealing with my sons stuff but things have progressed (motility, orthostatic symptoms, further neuropathy signs etc) and its time to buckle down and get some solid answers for me.

I have heard of (and actually met briefly at a mito conference) Dr. Cohen but i hadnt heard the comment about muscle biopsies likely being negative in dysautonomia cases - that is interesting as my biopsy was negative but it looks like we may (emphasis on the 'may' - the significance is yet to be determined) have found the MtDNA gene defect responsible for my sons (and theoretically my) mito.

As far as dysautonomia/mito and diagnosis - my son has autonomic 'issues' (heat intolerance, temp regulation stuff, sweating stuff, motility stuff) but I wouldtn classify him as 'dysautonomic' at this point - his issues are hugely neurological and movement related (he essentially has the brain of a parkinsons patient). his muscle biopsy was crystal clear positive.

I on the other hand have a negative (for mito) muscle biopsy and progressive neuropathy with multisystem issues (heart rate stuff, kidney stuff, gut stuff, etc etc) and honestly the odds of me having some other exceedingly rare condition (while still sharing the gene defect my son has) are astronomical.

[Broken_Shell]

Thank you all for your replies so far. I am seeing a mitochondrial specialist at the end of June, so I will see if anything productive becomes of that. The doctor actually spoke to me on the phone himself and his scheduler fit me in 4 weeks before his first official new patient opening, so I at least feeling positive about the physician and his staff. My neurologist and I still haven't heard anything back from Cleveland Clinic, but at least finding this other doctor - who also happens to be closer to where I live - is a start.

~ Broken_Shell

[Rachel]

Jen,

The skin biopsy I had was looking for mito specifically. I don't know if under the arm is the only place they can get skin to test for this, but Dr. Cohen did say it was the best place.

A skin biopsy for neruopathay is a little different than the one for mito. The way the biopsy is taken is the same, but the testing is different.

I hope this helps. I'm not an expert my any means. I just know a few things from what I've read on UMDF and what I've heard from Dr. Cohen.

Rachel

[cordila]

I've been seeing a new Endo and after 2 years of applying Thiamine cream my B1 levels are still not up where they should be. It's now clear I have a mitochondrial disorder - which we can tell simply by adding up the low B1 levels plus off the charts pyruvic acid levels and an virtually non-existent parasympathetic nervous system (fueled by acetyl-choline) equals mito-heaven (or ****, as it were...).

I'm starting on B1 injections next week. We're starting at 50mg's 2x's a week and slowly increasing to 100mgs/day. It may go even higher but that remains to be seen.

I found some interesting personal accounts that I though you guys might find interesting too.

http://www.mecfscanberra.org.au/docs/stories/bronwyn.htm

http://www.lymeinfo.net/thiamin.html

[ramakentesh]

virtually non-existent parasympathetic nervous system

A fascinating post! Where you aware that this very point is being investigated right now in a subset of POTS patients. Im not sure if the mitochrondrial scenario has been linked though. But that is really interesting!

Keep us posted on how you go with the B1 regime. I know others who have had some significant success from empirical evidence.

[toddm1960]

Just returned from my appointment with the genetics doctors and they want to send me on to a mito center. Has anyone been to see or know of John Shoffner and his center Medical Neurogenics? I'm much closer to Boston or Cleveland, but they are pushing for Atlanta. Let me know if anyone have any info on them. Thanks

[Rachel]

I've heard that Dr. Shoffner is really good, but I haven't been there personally. I did receive a referral to his office, but they don't accept Medicare, so I had to go elsewhere.

Rachel

[toddm1960]

Hey Rachel,

Thanks for the feed back, I read your singnature........OMG it sounds just like mine. Where did you go? Have you found anything out about your possible mito? Keep us updated, and good luck finding help.

[cordila]

hi ramakentesh,

I've been on the B1 bandwagon for the past 2 years championed mostly by the research of Dr. Derrick Lonsdale. Through his protocol I have been on transdermal B1 for 2 years now. It has greatly improved my circumstances but I still feel quite far from the 'normal' category.

Interestingly, I noticed something else yesterday (now that I am tuned into the mito issue). I moved to Seattle in June 08 and since then have had more issues than before, with the exception of dry, crisp, cold winter days. Yesterday a low pressure system moved in and I immediately 'crashed'. Additionally, my feet turned blue. What I realized is that my blue feet is not blood pooling - it's lack of oxygen! If the mitochondria is dysfunctional, and therefore not able to produce fuel and oxygen for my body, then an additional lack of oxygen in the air would cause an increase of symptoms. The same goes for humidity! So Seattle (home of constant low pressure and humidity) is the worst place for me. It is also interesting to not that the Pacific Northwest has the highest instances of MS in the nation - by far! Could it be due to the lack of oxygen?

I also want to post that I received my first B1 shot today. The needle was OK but the actual fluid was very painful! I only received 10ml (the goal is 100ml daily) so I got the wimp version of a taste of what's to come. I'm to do 10-25ml 2x's a week and then report back to my endo in 2 months time for another blood draw for thiamine levels.

All my eggs are in this basket. This HAS to work. I'll keep you posted.

And to you Broken Shell, Rachel and others - please keep posting your progress and any incidentals the doctors may tell you. There are many of us watching your posts with baited breath.

XX Waterbaby

[cordila]

Just found one more thing..."In most tissues of the body, the response to hypoxia is vasodilation. By widening the blood vessels, the tissue allows greater perfusion."

Hypoxia is lack of oxygen. Check out the symptoms of altitude sickness. Sound familiar?

* Lack of appetite, nausea, or vomiting

* Fatigue or weakness

* Dizziness or light-headedness

* Insomnia

* Pins and needles

* Shortness of breath upon exertion

* Persistent rapid pulse

* Drowsiness

* General malaise

* Peripheral edema (swelling of hands, feet, and face)

If we (or some of us) have a mitochondrial disorder then we are not (among other things) getting enough oxygen. Could some of our dysautonomic symptoms be caused by lack of oxygen? Does anyone else notice that they are markedly worse during the following:

-air travel

-travel to places of high altitude or on mountains

-days with high humidity (esp when hot as well)

-days with low barometric pressure

Has anyone ever had their oxygen saturation levels measured?

[ramakentesh]

I believe - but could be wrong - that firewoman had her saturation levels checked.

its an interesting area and an evolving one. I too find that airflight is a bad trigger for me. Infact its by far my worst trigger. The reason for this is unclear. ive got theories but they are just that.

Parasympathetic withdrawl can result in a kind of POTS on its own. Its actually any area being actively researched right now.

Blue feet / cyanosis does indicate either reduced blood oxygen perfusion or decreased circulation/flow. POTS patients with decreased peripheral resistance/blood pooling in feet and hands have very red feet and hands, that are warm to the touch, not cold, clammy and blue.

Altitude, oxygen levels and relative nitric oxide levels are also things id be looking into for you.

B1 may also help the parasympathetic withdrawal scenario to a degree possibly. Let us know how you go. its interesting that you've happened upon something a doctor was just telling a friend about a few weeks ago.

[beggiatoa]

I've been using Ubiquinol and it's helping a lot. Especially in the area of muscle weakness and energy. It's a better absorbed form of Coq10 and the primary medicine used to treat Mito disorders.

[Aprilmarie52]

I cant remember if you have already seen Dr. Shoffner or not, but he is who diagnosed my daughter. She had a muscle biopsy done to confirm. They are now doing additional testing on her sample to isolate the mutation. We get all of our CoQ10 from epic4health.com. That is where Dr. S advised us to order from. Something to do with bioavailability I believe.

[Sophia3]

The testing for this mito stuff is ENDLESS and I had a boatload of unusual tests for mito initial blood work...I remember I was low in CoQ10 but when I took it, WORSENED my pre-existing insomnia. However aside from CoQ if you are low, and Carnitine (mine was ok) there isn't a lot that can fix mito in adults, so we didn't investigate more. My doc just said as tired as I am and as long as I've been sick, I could easily have this mito so we tried CoQ10.

I took 100mg Solaray brang.

AprilMarie

WOW, the prices are good on epic4health...then I checked the shipping costs. $6.00 on a one $9. PRODUCT? They have a really low dose of CoQ I might order. Only 15mg. What dose to you buy? Thanks

**Edit, found good price on this Acetyl L-Carnitine, anybody tried that? **

[Aprilmarie52]

I buy the liquid 500ml for my daughter. She takes 800ml. She is also on L-carnatine but hers is prescription and we get it through a compounding pharmacy.

[Sophia3]

thanks April. Found the QGel 30mg close to home and cheaper than online Plus Shipping.

thanks for the answer. Didn't even see the liquid 500ml (SMH=Smackin my head)