Looking for a doc that specializes in mito. disorders

I was recently dx with a mild mitochondrial disorder. However it does not feel mild to me. I suffer from intense migraines, body pain, fatigue, and exercise intolerance. The drs have started me on neurotin, celebrex, coQ10, alpha lipoic acid, lcarnitine, b complex, vit c, b-complex, and a multi vit. The celebrex and neurotin helps with the body pain and migraines, and the supplements with my energy. That is unless I try to exercise, then I am in pain for over a week. (exercise meaning walking 1-2 miles at a brisk pace, I used to workout 1-2 hrs a day 4-5 days a wk). The dr I was working with said not to worry about nutrition, that he didn't know if or when I would be able to exercise or get off my pain meds. In addition he did not suggest genetic counceling, and said my disorder was more of an annoyance than anything else. I live in Portland, OR and would be so grateful if someone could suggest other resourses. I was already pointed in the direction of the umdf website which is very helpful, any others? Thanks for your help! Very happy to see this community started!

Thank you so much for responding to my post! I never got an e-mail letting me know anyone wrote back so this is the first time I saw your response. It has been a huge help! My husband and I have been so frustrated the last couple of months with the drs not giving us any answers. They gave me the supplements and said don't worry about nutrition, and that I could follow up with my PCP. Getting answers since then has been awful. My PCP has never had a patient with a mito disorder, and keeps referring me back to the neurologist. The neurologist said it didn't matter where I got my supplements and to look at my disorder as an annoyance. In addition he put me on celebrex for my body pain and gabapentin for my head pain. With my supplements and pain medication I am able to go to work full time. But if I exercise where I get my heart rate even slightly up (120+) I will be in pain for up to a week. In addition I have noticed my hands shaking on occasion. The tests they sent off that I thought were looking at genetics were looking at mitochondrial enzymes, and only looked at three areas. They came back normal. I am insisting on going to a genetic counselor, however the dr has not responded to my e-mails. His nurse referred me to the MDA for help, and proceeded to say there is no difference between a disorder and  mitochondrial disease How long did it take for your disorder to get worse? What signs did you notice that you were getting worse? I would love to find a clinic that specializes in this area. Any suggestions? You had asked to look at my biopsy and EMG. I have included the results below.
My biopsy read
Final Pathologic Diagnosis:
Skeletal muscle, right quadriceps, biopsy:
     - Mild mitochondrial changes (See comment)
     - Mild chronic denervation atrophy
     - Type 2 fiber atrophy (See comment)
      
Comment:  The mitochondrial changes are mild and non-specific (mildly
enlarged, abnormal shapes) and on their own are insufficient for a
diagnosis of mitochondrial cytopathy.  Type 2 fiber atrophy is nonspecific and can be seen with chronic corticosteroid administration, muscle disuse, endocrinopathies, and other processes.
Histology
Tissue preservation good
Myofiber size : Variable:     20-90 microns
Additional dimensions:   Most fibers are 40-60  microns
No increase in internalized nuclei
Angular atrophic myofibers
Comment(s):    Mildly angular
Inflammation: No inflammation present
Cytoplasmic body
Comment(s):    A single fiber contains multiple cytoplasmic bodies.
There is no muscle fiber necrosis or phagocytosis and regenerating fibers are not seen.  There is no endomysial fibrosis.
Histochemistry
Trichome: Unremarkable with no ragged red fibers, nemaline rods or rimmed
vacuoles
NADH:     Target/targetoid fibers
Comment(s):    Fibers with central diminution of staining, almost
exclusively type 2 fibers.
SDH: Increased mitochondria
Comment(s):    A few scattered fibers have subsarcolemmal crescents or
punctate regions of SDH positivity.
ATPase (pH 9.4 and pH 4.5):   Selective type 2 fiber atrophy
Fiber type grouping
Comment(s):    Most atrophic fibers are angular or polygonal type 2 fibers with only very occasional angular type 1 fibers and occasional polygonal type 1 fibers.  There are small fiber type groups, consistent with denervation followed by reinnervation.
Cytochrome Oxidase: Normal
Comment(s):    Rare fibers with subsarcolemmal crescents of increased staining.
PAS: Normal glycogen content and distribution
PAS-D:    Digested by diastase
Oil-Red-O:     Increased lipid content in Type 1 fibers
Acid Phosphatase:   Unremarkable subsarcolemmal
Alkaline Phosphatase:    Unremarkable vascular labeling
Non-specific Esterase:   Unremarkable
Myophosphorylase:   Present
Myoadenylate Deaminase:  Present
Electron Microscopy
Thick Sections:     No abnormal subsarcolemmal deposits
No vacuolation
Vasculature appears unremarkable
One micron thick plastic sections are stained with toluidine blue.
Longitudinal and cross sections are examined.  Occasional longitudinally oriented fibers with mildly disrupted myofibrillary architecture (misalignment of the sarcomeres) are noted.  A representative section is stained with PAS revealing occasional fibers with small subsarcolemmal accumulations of PAS positive material, probably within normal limits.
Thin Sections: Ultrathin sections are viewed under the electron microscope.
Both longitudinal and cross sections are examined.  There are a few small subsarcolemmal accumulations of mitochondria, often also associated with lipid droplets.  Some mitocondria are mildly enlarged and some have irregular shapes.  Most are normally placed adjacent to the I bands.  No paracrystalline inclusions are identified.  Overall, mitochondria are not increased in number.  Sections stained with tannic acid show that rare fibers contain increased non-m embrane bound intermyofibrillary glycogen. Most fibers have normal amounts of glycogen.  No membrane bound glycogen is
identified.  There are modest amounts of glycogen associated with the
aggregates of mitochondria and lipid.  The myofibrillary structures are
normal and there are no abnormal accumulations of filaments.  Plasma
membranes and basal laminae are intact.  Blood vessels are normal.

My EMG read

There were no definite signs of myopathy however, there was evidence of membrane irritablity in 2 muscle samples. Unclear significance.


You had mentioned that certain brands work better than others and are more accessible for your cells. Which brands do you use?

Thank you so much for your help, just the little bit you wrote has taught me more than any of the drs I have spoken with.

Thank you!

[mitoscottie]

So many questions!  A diagnosis of "Mito" means you will have MANY questions and few answers ... such is life in Mitovia!

I wa diagnosed in 1991 finally (I was one of the early diagnoses) and recently my son was diagnosed.  I am a senior citizen and a Canadian living in British Columbia.  I also run a support group fro adults with Mito and their caregivers.

Particularly, I noted your exercise schedule and wanted to comment on that!  At what point in your "brisk one to two mile walk" do you start to feel weak, become breathless or experience pain?  You should ONLY GO AS FAR AS YOU ARE FREE of symptoms!  Small wonder you are having to take drugs to compensate for pain!  Mitochondrial disorders are disorders in which your energy is compromised:  you are pushing yourself beyond what amount of energy it is possible for your body to create.  You said you used to work out ... you will know about lactic acid build up ... this is what is happening to your body.

Medications for pain are often processed through the mitochondria and challenge your compromised metabolics.  You are MUCH BETTER to exercise JUST UNTIL YOUR BODY TELLS YOU IT HAS HAD ENOUGH!

If you go to  you will find a sound file and a powerpoint presentation and a downloadable booklet on "Exercises for patients with Mitochondrial Disorders"

MitoAction has a LOT of information and very helpful free teleconferences ... and it is free to join and get their emails.  .  The little calendar on the right of their home page has the upcoming teleconferences and the numbers to call.  Their blog section has sound files and a summary of previous calls.

Dr Russell Saneto is in Seattle, WA and he is pretty well known as a Mito doctor.   Don't know whether he sees adult patients but he may be able to direct you.

There are two other Mito doctors who DO see adults ... and are well respected in Mitovia ... both will work with your physician team.
1.  Dr Frances Kendall runs a Virtual Medicine Practice for mitochondrial patients and her link is
2.  Dr Wendy Peltier at Froedtert Medical Hospital of Wisconsin at  ... I know several adults who cross the country from California to see her!

Hope this is helpful information.