P.S.
I don’t know if you are a man of a women But many women with autoimmune diseases have trouble getting diagnosed in my experience (women with mitochondrial disease as well by the way). Almost all the women with autoimmune disease I personally know, have heard at some point that it was 'probably stress, depression, etc' before they got a diagnosis

If you go an read posts on any forum about any autoimmune disease that isn’t very visible from the start (like RA or something) you will find many women there who share the same experience.

Funnily enough I just found out that in most autoimmune disease the majority of the patients are women, this is the same as in patients who have a 'psychosomatic' diagnosis. Maybe we should organize a book burning and burn every book from Freud ever published. The only reason I would like to have a male genitals is because it would probably get me diagnosed a lot quicker.

Matilda- been there (as far as the "oh your just a stressed out new mom conversation/looks).. anyhow.. YOu say you have a skin disease as well - what does that look like - ever thought of dermatomyositis? Did you have a muscle biopsy?? (isn't that the way to definitively diagnose mitochondrial dz? (along with poly and dermatomyosiits).. anyhow.. just a thought (as I am in limbo land too, so I'm always thinking of possibilities to explain it all).

Muscle biopsy is no longer the gold standard for diagnosing Mitochondrial disease.

There are a number of diagnostic tools used.

Metabolic Labs-urine and blood(some very specialized)

Genetics-

Clinical examination(more then 2 organ systems involved)

Ruling out any other possible disease process.

Mito is one of the most difficult diseases to diagnosis. Sometimes Mito can be primary or secondary(secondary to nutrition,diabetes,cancer,medications etc). Currently, only a small percent of the overall population of Mito Patients has a gene mutation identified as disease causing. Mito can be because of either mutations/deletions/depletions in mtDNA or nDNA. It can cause poor function of the mitochondria(Function I,II, III, etc).

Muscle biopsy for Mito is though the only way to definitely diagnose Mitochondrial Depletion, for 80 percent of those with a depletion. Only 20 percent of have gene identified. The best part about a biopsy is that it can rule out many other diseases of the muscle.

They are now using swab testing of saliva even for testing.

The specialist are really working hard to find less invasive ways to diagnose. For many with Mitochondrial disease something like a muscle biopsy is incredibly difficult on their energy and ability to heal and recover.

For our daughter, all metabolic labwork was normal. Nothing indicated a Mitochondrial Disease, so we went ahead and did the biopsy(second one) more to see if there was another disease of the muscle- to our surprise they found the depletion.

THanks Dinydeek! I didn't know there were so many other ways to test for it! Is the muscle biopsy a big procedure? That is one stone that is unturned for me as of now, and I wonder to myself - do I have a dermato or polymyositis with a normal ck and adolase, do I Have mito dz- likely no, but I have been debating if I want to push for a biopsy, though I can't do anesthesia, as whatever I have is affected by epidurals and general anesthesia (respiratory distress etc).. .. if they could do it under local, I think I might consider it..

Hi Bny806,

Thanks for the information.

The skin disease was diagnosed by a skin biopsy. My skin disease also behaves, looks and responds the way it is supposed to if you´ve got that disease. I’ve looked at picture of de diseases you said but it doesn’t look like I have that.

I have read somewhere that you respond to IVIG very well. Mitochondrial disease is an inherited disease that doesn’t respond to IVIG. If you respond to IVIG you most probably got some autoimmune disease.

Very true Matlida- I stress that maybe it's all placebo effect (the ivig) I think I have a bit of PTSD from the first dr I saw with all of this who said he thought it was ALS.. (i was 30 a few weeks post partum with two kids 16 months and under)- total panic.. I feel much much much better than I did, but some things seem a touch worse or different too, which makes my mind wonder, though I Try to not let it! I have weird skin rashes a lot too - and horrid joint aches.. (my ANA is always pretty high), so they all say it's something autoimmune.. esp with such a strong family hx of autoimmune stuff.. but again, my mind just worries without definitive diagnosis!

I had progressive fatigable weakness in which various rotating myasthenic muscle sets were severely exacerbated by exercise, heat and diurnal variations for over a 3 year period. By the time it all reached a peak I almost needed a wheelchair and could barely brush my teeth or hold a drink up to my mouth. I would get a particle of rice stuck in the esophagus for up to an hour and sound like a drunk by the end of my child´s short bed time story, if I could stay up that long to read it. Mestinon helped tremendously – even at the tail end of all of this whilst going into a slow remission. Here is some of what I encountered as obstacles to diagnosis:

I personally would actually put my own weakness down to´overuse´of muscles at the work place over time and also down to age. I also stayed with a doctor for quite a long time until the final straw for me. Not once was my weakness clinically tested in his office, yet it was gradually deteriorating to the point where I was not able to do the things someone´s 90 year old mother-in-law could do - and I had just passed 40.

MG is a´big picture´disease. A doctor hung up with and scrutinizing only the small details in isolation cannot possibly make a sound diagnosis or refer correctly. Negative tests also do not rule out MG. Unfortunately it is easy for doctors to put patients with fluctuating symptoms into psychosomatic tumble dryers during the diagnostic process. I have been diagnosed twice abroad with a suspected myasthenia gravis diagnosis despite negative tests. Yet when I came home I had to start all over again from scratch. By the time 5 years is over I have gradually gone into remission of all my symptoms all on my own.

So yes! With the success rate in diagnosing MG, it is even possible to go into remission from the disease before you even get a diagnosis for it!

What´s more, for some, the diagnostic process for MG can be so erratic, unpredictable, irrational and demeaning that that process in itself might just be exactly what is needed for you to get that additional psychosomatic co-disease that you never had when you first started with MG and that you wouldn´t have spontaneously acquired either - at least, not until you set foot in the doctor´s office!

Best of Luck


Anacrusis

This is so true Anacrusis!!

Thank you all for your stories, it is amazing the different symptoms, diagnostic results etc! Whether I have MG or not I really hope and Pray that research discovers and more consistently reliable method of testing....and treating this cruel disease...and SOON!

Matilda I wish you all the luck in the world, your story has truly shocked me, no one should have to endure the treatment you have received over the years! (I am female and have already been put in the "Psychological Factors" box - I currently have one foot out, but will not be surprised to be thrown straight back in!)

Thanks again everyone

Mitochondrial Disease is tricky. Many Mitochondrial Disease patients use IVIG to treat the secondary issues caused by the Mito. It has proven to be very helpful for the population that needs it.

Mito can cause anything from a tremor to constant illness to deafness to heart disease to kidney issues to liver, seizures,and a zillion other symptoms and secondary disease processes- it is now being connected to Huntington's, Parkinson's, cancers even. The most common symptom is profound fatigue.

It is a very complex disease processes with anything from very mild symptoms to extreme,sudden and life threatening.

When all other diseases have been ruled out, a referral to a Mito Specialist can be the next best step.

The muscle biopsy is an outpatient procedure for many adults. Not comfortable, but there is certainly worse tests.