Friday, February 17, 2012

Why does diagnosing Mito take so long?!

"when you have eliminated the impossible, whatever remains, however improbable, must be the truth" Sherlock Holmes

It took my family 6 years of hard searching with highly qualified doctors to find out that we had mitochondrial disease. At first there were a lot of possibilities the genetics doctor and other doctors suggested. The children went through all sorts of testing and blood labs.

Then there was the wait after a test went out. Was it going to show the problem or were we waiting yet again for a negative finding or worse an ambiguous finding that required more testing.

I hated making my children take more and more tests. Slowly the possible problems were cleared from the table. Eventually the only disease left was mitochondrial disease.

After a couple years of that being the only possibility but still no diagnosis my husband and I were stumped. Why not diagnose the kids? One doctor said I won't diagnose your daughter with mitochondrial disease because then there is no hope. How wrong that doctor was. A diagnosis of mitochondrial disease is NOT a no hope situation.

It is serious.

Another doctor we dealt with said that the mito community was moving towards only diagnosing people when their was black and white lab evidence, therefore anything less was not diagnosable. Again not exactly true if you look at the DSM, Cleveland Clinic's criteria, and other main stream specialists.

Eventually testing for mitochondrial disease took a huge leap forward and we were clearly diagnosed. Not long after getting those results back I (a 35 year old had a large stroke). Soon none of our doctors could deny we had mitochondrial disease. Like the Sherlock Holmes saying, "when you have eliminated the impossible, whatever remains, however improbable, must be the truth" Mitochondrial disease was what we were left with.

It took years of searching and eliminating other possibilities. For us that is why it took so long for a final diagnosis of mitochondrial disease. The good news is, with the recent leaps in testing that LONG wait is being cut down to months or less! The best way to reduce your wait to find out if you have mitochondrial disease or a disease like mitochondrial disease go to a specialist in metabolic/mitochondrial disease. These specialist are often in a position to tease out which tests will be the most revealing and clarify your situation promptly. There are still times when being diagnosed with mitochondrial disease is an exercise in removing everything else it COULD be, to find what it is.


  1. We are just starting the mito track. So far we have had two years of testing unknowns. I really hope that we find answers soon. I have one metabolic doctor who isn't even looking at them yet, he first looked at leukodystrophy and battons disease, it is our neurologist looking into mito. the first test for deletions came back negative.

  2. We've been on the long road of doctor after doctor and tests after tests for our Amber who is now 19. She has had a life time of illness battles that now has her bed ridden and in a wheel chair. She has weekly nerve pain infusion's and still has so much pain its a daily battle and very sad. We now know that Amber has some form of Mitochondrial. Amber was able to make a very painful long drive to Stanford, Ca to see Dr. Enns who is working with UC Davis Medical Center in Sacramento to help our Amber. I have a hard time believing there is nothing they can do to help Amber other then supplements and pain medicine.

  3. hey there im laura ive got a conditon called mitochondral multiple dna delations. we didnt find out about my mito conditon til i was 19 after not coming round from an operation when i aws 18. they initally treated me for mystemia gravis a musle weakness. then they did a muscle biopsy on and they sent me up to the leading professor in mito conditons. Everythuing fell in to place like me going deaf my eyelids and general tirenedness