Author Topic: Mitochondrial Disease- long  (Read 3260 times)

hoosierneals

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Mitochondrial Disease- long
« on: May 28, 2013, 05:38:06 AM »
I was recently dx with Sjogren's (for once I actually had a definitive test result, go me!)  However, I have been dealing for years with a string

of neuromuscular issues and neuropathy.

I have two children (currently 17 and 16) who were both dx with autism when they were 3 and 1 1/2.  Starting about 4th grade I realized my

daughter was showing signs of muscle weakness.  Through a series of events we were sent to a very brilliant metabolic geneticist who dx my

kids with mitochondrial myopathy.  This was in 2006.  They have since continued to decline and present with mito.  The challenge is mito is

often very difficult to confirm by biopsy, or genetic testing due to the complicated nature of the mitochondrial genetics (knowlege is constantly

evolving.)  At the time they were dx I was experiencing a neuromuscular "meltdown" following some surgery and all the neurologists I was

seeing were baffled.  It sort of looked like MS but wasn't, etc.  The kid's Dr. assessed my symptoms and firmly believes I have the same dx as

the kids (it would be very unlikely that I would randomly have a different neuromuscular problem).



I bring this up because I just want to provide some food for thought.  Whenever there is a process where 3 or more systems in the body are

affected and there is no unifying cause, mito should be considered.  There is considerable overlap in the symptoms with SS, though mito is

often more aggressive (ex. my daughter has been a tube feeder for the last 3 years thanks to major gastroparesis).  Mito is listed as a rare

disease, but the experts we have seen insist it's more common than thought and often goes undiagnosed.  My rheumy summed it up by saying

he thought I had both a neuromuscular disease, and a connective tissue/autoimmune disease.

Downside, there's no cure and technically no treatment though empirically there are a number of supplements including CoQ10 and carnitor

that help.  In our case, all three of us had very low CoQ10 levels.

Since my SS dx I have mentioned it to all of their specialists and each one has commented that likely they are related in some way, but

scientifically they just don't have a handle on it yet to understand.  I don't mean to cause undo anxiety, but I happen to believe that knowledge

is power and I'm sharing my story because perhaps there are others of you in this situation.  You can go to www.umdf.org to get further info. 

Some children show signs of mito very young and have poor prognosis.  Don't let this freak you out.  In adults, especially, the symptoms are

often chronic in nature. 

I am very curious to see how treatment fo SS (just starting out) might affect some of the overlapping symptoms.  Perhaps it will help. In

addition to sicca, I currently deal with significant muscle weakness (ex. my gait is affected, I can pick up a gallon of milk or a heavy box, but

very quickly my muscle strength will fail and I will drop it.), significant neuropathy in my arms and legs, migraine (both typical and vestibular),

neurogenic bladder (Sometimes I have to use and in and out catheter, especially after an illness).  extreme fatigue, fever of unknown origin,

transient gland/lymph pain, etc. 

I hesitated for quite awhile to post this, as I don't want to cause undue anxiety to anyone.  But then again, perhaps this is something for you to

consider that might be filling a gap in explaination of your symptoms.  The spirit I bring to this is that knowledge is power when it comes to

health.  BTW, one complication is that most physicians are aware of mito, but know next to nothing about it or how to run even basic labs.  It

can be a challenge to find someone to evaluate you.  With mito testing, yes means yes, no means maybe.  Frustrating! 

CMNK12

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Re: Mitochondrial Disease- long
« Reply #1 on: May 28, 2013, 06:49:56 AM »
  Thanks for your post.. knowledge is power in my opinion.  ;)  CK

Joe S.

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Re: Mitochondrial Disease- long
« Reply #2 on: May 28, 2013, 10:16:39 AM »
You may wish to read "The Cell from heck" a Popular Science article. Discover magazine had another informative article "The Insanity Virus". I believe both of these are readable through google.

I take a number of supplements targeted at repair of mitochondria DNA after reading an article in Readers Digest over a decade ago. The Life Extension Foundation (LEF.org) website has a lot of information on related supplements.
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Skylar

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Re: Mitochondrial Disease- long
« Reply #3 on: May 28, 2013, 11:07:56 AM »
 I'm so sorry you have to deal with this and appreciate you sharing your information and resource.

Kendo

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Re: Mitochondrial Disease- long
« Reply #4 on: May 28, 2013, 11:59:47 AM »
This is very topical! I was at an internal medicine specialist who doesn't know why I have multiple and diverse problems. I even mentioned to him that I had researched mitochondrial myopathy.

I have low calcium (5 yrs), low potassium (2 yrs), fat malabsorption (5+yrs), legs cramps (1.5 yrs) muscle weakness and exercise intolerance (2 yrs). The only really positive test I had was by my naturopath that showed problems with my carbohydrate metabolism. It suggested I take B vitamins, Coenzyme Q10 and lipoic acid, carnitine etc. The B vitamins control the leg cramps mercifully.

I'm waiting another 5 months for a neuromuscular consult. The internist suggested repeating 3 yr old EMG tests first. What blood tests can be used for mitochondrial disease? My lactic acid was high in urine test but normal in blood test.

My nurse practitioner can order a lot of tests but I need to give her a good reason. I've always been a weakling but took that to be my scrawny nature (under weight most of life from celiac disease). I was a projectile vomiter as a baby and from my baby photos, would be described as "Failure to thrive" in the modern era. I didn't walk until 19 months, due to a misdiagnosed hip dysplasia. I'm interested in what your kids showed as babies.

Thanks for this very useful thread. I have a potential Sjogren's diagnosis but the doc today said all the other things don't point to Sjogren's.
Kendo
Seronegative for Sjogren's, Celiac, MG; ANA pos, eat GF, calcium disorder, asthma, probable myasthenia gravis, low potassium, low stomach acid, fat malabsorption.
Mestinon, calcium, Vit D, 600 mg NAC, multi Vit, B50 complex, potassium, evening primrose oil, fish oil

hoosierneals

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Re: Mitochondrial Disease- long
« Reply #5 on: May 28, 2013, 12:34:55 PM »
Regarding what tests to run- I suggest checking out the website www.umdf.org which has a listing of useful tests.  EMG is not particularly useful for mito- it is often normal.  Lactic acid blood tests are notoriously finicky- there's a special procedure for drawing them that is very important to get accurate results.  I think the info is there also.  CoQ10 blood tests are the same way- in that case I believe the tube has to be immediately wrapped in foil or something else because it can't be exposed to light.

I think you have mentioned a number of interesting things that suggest that something metabolic is a possibility.  We take prescription carnitine (Carnitor) and source CoQ10 from specific sources that our dr. trusts.  All CoQ10 is not the same.  I have been at numerous conventions where expert doctors have said that purchasing CoQ10 from the drugstore, Sam's Club, Costco, etc. is a waste of money because it can't be absorbed very easily.  Truthfully, they say you pretty much pee it all out!

It may be helpful to contact UMDF (United Mitochondrial Disease Foundation) to find out if there are any mito doctors in your area.  There are a number of other metabolic problems that aren't exactly the same as mito- but in the same neighborhood.  We are lucky in that our children's hospital here actually has a mito clinic- one of very few in the US. 

Mitochondria are one of the building blocks of life and play a role in virtually every disease process (and aging.)  It's astonishing how little mitochondria are understood.  Since 2006 the doctor's discussions have actually become more pessimistic, because they keep discovering that the entire process is WAY more complicated than they first thought.  A few years ago I was observing at a meeting with some of the top mito experts in the country, and the director of the NIH.  They pointed out that in the prior year, only 5% of NIH grants even mentioned the word mitochondria in their proposals!  And this is one of the most critical pieces of powering the human body!  Amazing.  Learning how mitochondria work would benefit so many diseases.

It's very common with mito for people to end up in the "probable" category and have trouble getting an accurate genetic diagnosis.  It's just so complicated they know that they don't have the ability to test all of the causes that probably exist.

lori

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Re: Mitochondrial Disease- long
« Reply #6 on: May 28, 2013, 01:29:56 PM »
look into Low Oxalate diet- in researching my issues i found a number of folks who have mito issues and do the low ox diet- there is alot of info out there-

one site called Roos clues speaks about that- not sure if that will help you but its worth a try to look into it?????

lori

engy

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Re: Mitochondrial Disease- long
« Reply #7 on: May 28, 2013, 01:59:47 PM »
My doctors question whether I have a mito. disease too. I take a "cocktail" of vitamins/supplements including lcarnitine and coq10 (yes from specific sources too) that would be the same if I do so I have not had the muscle biopsy and told the doctors I'd rather not as I heard how painful it is.

My doctors now say at this point I would only need to confirm this for 1) my curiosity 2) to go on disability. Although they think I would qualify for disability already with my issues.

I do not plan on doing the muscle biopsy for confirmation as many of the tests I've already have tell us that if I do have a mito disease it is not one that they can confirm with a name (such as MD). They have done a complete familial study because of my symptoms and diagnosis. My doctor for this is: Dr. Chelimsky. He is a neurologist who will only see you if you are diagnosed with mito. disease or autonomic diseases.

It is frustrating but I am okay with my situation and feel lucky to have knowledgable doctors that have helped me a lot.

Good luck to all of us in our journey of health woes!
DX:Sjogrens w/mild Lupus overlap,Hashi,Celiac,Raynauds,Sm.Fiber Neuropathy,POTS,Fibro.,CFS,OI & other dysautonomia.
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Fish/Shellfish Allergy

RX:Plaquenil,Synthroid,LCarnitine,CoQ10,ALA,Dribose,Tumeric/Curcumin, Milk Thistle,AdreneVive,Fish Oil,Flaxseed Oil,Magnesium,B12 shots,vit D & C

Cassi307

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Re: Mitochondrial Disease- long
« Reply #8 on: May 28, 2013, 02:02:24 PM »
Hoosier
I am so sorry to hear about all that you have to deal with medically within your family. Thanks for educating me on this topic. I was not familiar with mito disorders. I admire the strength you have and how empowered you are in terms of arming yourself with whatever info you can find.

Sending support your way.

Sjogren's, seronegative RA,  ckd, hyperparathyroidism, asthma,  osteoporosis,  Meds:  amlodipine, low dose Prednisone, calcium, sodium bicarbonate. Also, multivitamin and B complex