Mitochondrial Dr. Appt.

[BEE]

Well I saw a mitochondrial dr. at Cleveland CLinic and based on bloodwork and findings I am told that I DO have mitochondrial disease..going along with my autonomic dysfunction. I had numerous bloodwork sent to GA. and will know which type and prognosis and such in a few weeks. He was a wonderful dr.

It is alot to handle as there are a few on this board that also have it. I believe.

WOW..

Belinda

[DSM3KIDZ]

I'm glad you finally got some answers. Is their things that can improve this illness? I'll have to do some research because I don't know anything about Mito. I hope someone here can help you.

Dayna

[doctorguest]

I am just curious based on what blood work and what symptoms did the doctor make a diagnosis of mitochondrial disease. Do you know what type of blood tests came back abnormal for you? It seems that this is just such an illusive disease and diagnosis and that many other patients with various illnesses could qualify for such diagnosis as well.

[Rachel]

Belinda,

I'm glad you are starting to get some answers, though I'm sure it's not the answers you'd prefer. I know it can be a difficult diagnosis and prognosis to adjust to. I hope the doctors can find a good mito cocktail for you. Please keep us updated as you get more test results back and start treatments.

Which lab work came back? Was it showing missing enzymes or chemicals? Or did they find a genetic mutation? I'm wondering because I'm currently going through the same process. I'm still waiting for my lab work and DNA testing results.

Hugs,

Rachel

[BEE]

Based on my enzymes reports..some other factors involved..physical limiations to this point. I have some bloodwork being sent probrbaly very similar to Rachel. A dr. I was seeing ebfore this specialist did the minimal bloodwork to see if it was a possiblity. ANd it was ..I have had the supplements for months. Just wasn't sure if he was 100%.

I will have to get records to let you know what EXACTLY...he based it on adn some other bloodwork such as lactic acid?. I believe carnitine and COQ-10 levels were diminished if I am not mistaken.As for symptoms..I was functioning halfway decent with my POTS the last few years. And about in Aug. I had MAJOR change. FATIGUE as if in on verge of collapse EVERYDAY non relenting. and some other major symptoms. I have been progressive. lets put it that way.

B

[Rachel]

Doctorguest,

A lot of factors are taken into consideration for a diagnosis of a mitochondrial disease. Getting a diagnosis is a long process, and not one that a mito specialist takes lightly. A mito specialist will evaluate numerous things including, but not limited to, organic acids, amino acids, liver enzymes and ammonia, ketones, acylcarnitine, blood lactate, urinary acylglycines, and Mitochondrial DNA mutations.

Not everyone with a diagnosis of dysautonomia or other chronic illness qualifies for a diagnosis of a mitochondrial disease. Mitochondrial diseases are generally progressive, whereas many types of dysautonomia and other chronic illnesses are not.

If you are interested in learning more, here is a link to the physician section of the United Mitochondrial Disease Foundation.

UMDF You will find information on symptoms, diagnosis, lab evaluation, resources, and much more.

Dr. Bruce Cohen, who is a leader in the field of mitochondrial disease research, wrote an article about Mitochondrial Diseases in adults. If you are interestd in reading it, here is the link: Mitochondrial Cytopathy in Adults: What we know so far

I hope you find this information helpful.

Rachel

[doctorguest]

Rachel, thanks for the article - I'll keep it in my files. It was a good article for clinicians, though the topic is very frustrating as there is no set diagnostic criteria or clinical presentation - beyond the classical "myopathy, loss of vision, muscle biopsy showing mito changes". I am glad he had a section on chronic fatigue syndrome, but when he wrote that "workup for mito disease should be reserved for those with CFS in whom no cause is found despite extensive workup", it made me cringe - we typically do not find the cause of chronic fatigue syndrome or most autonomic disorders in any patient, for that matter. So, there are lots of loose ends in this topic, and it seems that the knowledge is still in the embryonic stages, and its application in clinical practice is very limited.

I am still curious specifically on what abnormal lab tests did the doctor make a diagnosis of mitochondrial disease in those with autonomic dysfunction? Rachel, you've listed certain labs - did any or most of these come back abnormal for you? Is he doing a muscle biopsy to confirm mito disease in your case? I am trying to figure out how to apply this topic in "real world" practice. I usually do order most of the blood work that is recommended in this article, but I mostly see normal results in those with dysautonomia. It would be impractical/expensive (for the patient) to refer everyone whose dysautonomia is progressive or involves multiple organ systems for evaluation at his center, so clinicians need to learn how to do the basic workup themselves and who specifically to refer out.

[BEE]

ACYLcarnitine levels,acids,organci acids,COQ-10 wer all very low with me..or significantly reduced. That is what he based alot of it. I have NO know cause of dysutonomia..wsa completely healthy growing up, and let me tell you within WEEKS..i have gone from functioning decently with POTS to becoming quite incapacitated for my own standards. I described how I can use my muscles yet it feels as if no energy is there. I have peripheral neuropathy over 65% of my body..not just autonomic wise. TINGLING IN nose head,lips feet,hand etc.

I also have a TTT that shows that I am not responding as I once was. I still jump 30 beats but my baseline is lower and my BP is almost normal always. This was a few days ago.

Dr. Cohen is the DR. that saw me. I take naps and am WORSE off thatn before I took the naps.

It is all very trying..and I have spoken with UMDF trying to figure out where I am at and why I have progressed so quickly.

IT IS LIKE WALKING AROUND WITH SEVEREST form of mono..continually with no change day to day.

There is no respite. And believe me I have two young boys that need cared for. And I am Type A personality person.

He based it on many things and first off is looking for other deficiencies.

Thank you for explaining Rachel.

[Sophia3]

As you know Bee I have had the CFS dx siince the mid 80's but disabling since 1990 and big downhill slide the last few years.

Like I use a Kitchen Aid mixer for stuff the rare times I cook or bake (couple times a month). Say I want to make a small cake from scratch and use a whisk, just whipping up a SMALL recipe for an 8 inch pan wears out my MUSCLES in my entire arm from using a wire whisk. I do use gallon jugs to fill up bird baths and for bone building for my arms as I have osteopenia.

Sometimes it can trigger twitches. Had that for years but worsening.

I am in bed flat from going out to hear music last night and drinking Gatorade and tea to hydrate and pump up the volume.

I am learning alot from your recent doctor visits but I hate hearing it..you are so much younger than I.

I am very interested in hearing your updates. Just lie down whenever you can.

I spend 85 or 90 of my waking hours supine, or reclined in between doing anything!!

And sponge bath and only take a shower, even with a chair once a week or so as stepping over the tub throws me off balance. The tests for Carnitine and stuff, did your PCP order that BEFORE you saw Cohen?

I see my doc Appt 2 and told him I would ask about this but did send him the CC link by Cohen that he found 'interesting and would explain a lot'

But according to him, an endocrinologist and diabetic metabolic specialist, VERY TOUGH to test for as it's inside the cells. I guess that's why the blood work is so EXTENSIVE and with my Medicare and budget, can he even ORDER tests to be covered.

Sorry, didn't mean to make this about me, but I know you have struggled so with fatigue and it's the story of my life.

[Rachel]

Sophia,

I think that if it is billed properly, Medicare will cover the tests. There is actually a metabolic specialist near me in Atlanta, but he doesn't take Medicare, so I went to the Cleveland Clinic which does accept Medicare. So far everything has gone okay with that. As long as you go to a place that is familiar with how to code the tests it should go through.

If you want more details on the costs and billing, just send me a pm and I'd be happy to share.

Rachel

[Rachel]

Doctorguest,

Yes, it is a very frustrating and confusing area of medicine! Depending on which mitochondria are affected, clinical presentations vary greatly. There is still a lot of research that needs to be done, but progress is being made. It would be interesting to read an article about Mitochondrial Cytopathies in adults with the current information doctors have. The one I gave a link to was written in 2001, and I know that new information has come out since then.

The main things that led Dr. Grubb to suspect mito as a root cause for my dysautonomia:

- severity of my symptoms (POTS no longer describes my illness. When writing in my medical records or writing a referral letter to another doctor, Dr. Grubb always says that my diagnosis is "Severe POTS that appears to be Pure Autonomic Failure.")

- the progression of my illness over the years

- lack of response to treatment

- bouts of cyclic vomitting as a child that continued until 3 years ago

- periods of cognitive imparement that indicate possible mild seizure activity.

Dr. Grubb referred me to Dr. Cohen. After going over my medical history in detail, Dr. Cohen believes that I do have a mitochondrial disease. He is currently running tests to determine which one.

The labs being run are:

Mitochondrial Genome screening

lactic acid/lactate

CK Creatine Kinase

Comp Metabolic Panel

CBC+ auto diff

Methylmalonic acid

Ammonia BLD

Organic Acid Quan UR

Acylcarnitine QT PL

Acylcarnitine QT UR

Lymphocye CoQ10

TSH BLD

Cortisol BLD

Ferritin BLD

Iron+ TIBC

Vitamin 25 hydroxy

Amino acid quant BLD

I haven't actually gotten the results back from these yet. I will hopefully hear back within the next two weeks. Dr. Cohen said that he may need to do more tests after these. If so, we will just ship more blood up to the clinic.

I didn't have a muscle biopsy; Dr. Cohen ordered a skin biopsy instead. He said that he's never had a muscle biopsy show anything with dysautonomia patients. With a mitochondrial disease causing dysautonomia, it is the mitochondria in the nerves that are primarily affected. In me, the skin biopsy is more likely to show the mitochondrial disease. They are cloning my skin and will keep it in storage and continue to test it over the years as new tests become available. I don't know what all Dr. Cohen is testing currently with the tissue from the biopsy. I know that he is looking for DNA mutations, but there are other tests he's running too.

Sometimes with mito there are multiple chemicals or enzymes missing along metabolic pathways, but other times there is only one thing missing. Dr. Cohen said that he had one patient who came in on a stretcher because he could no longer even sit up in a wheelchair. It turned out that the only thing wrong was one enzyme missing in the metabolic pathway. Dr. Cohen ordered a supplement for him, and he returned to perfect health! It is very, very rare for someone with a mitochondrial disease to have such a simple fix and full recovery. Usually treatment only slows progression of the disease, but that story shows just how important each enzyme, chemical, vitamin, etc. is along the metabolic pathways. If the mitochondria don't get the energy they need, havoc is wreaked on the body!

There was a huge flow chart (about 3 feet x 4 feet) in Dr. Cohen's office that showed the metabolic pathways. It was extremely detailed and complicated. We commented on just how impressive that was, and Dr. Cohen said, "Yeah, and that's the watered down version! You could have a problem in any one of those metabolic pathways. We just won't know which ones until we run all the tests."

It is confusing and detailed stuff! Our bodies are amazingly complex.

Rachel