Mitochondrial Disease Testing At Mayo Clinic

[Rachel]

I am considering going to the Mayo Clinic here in Minnesota to finish my testing for Mitochondrial Disease. Has anyone else been to Mayo in Rochester for mito? What was your experience like? Would you recommend Mayo for adult mito testing?

I would greatly appreciate stories of both good and bad experiences. If you had a bad experience that you are comfortable sharing, please send me a PM. I'm weighing the pros and cons of doing testing at a hospital nearby vs. travelling to a place like the Cleveland Clinic.

Thanks so much!

Rachel

[roxie]

Have you checked the mitoaction site to see if they have a forum?

[Rachel]

Bananas,

I checked Mito Action, and they do have a forum, but no one is very active on it. A lot of the posts are a year old!

[HopeSprings]

Rachel - what did you Doctor say about Mito? How did you end up going down this path? I tried to pursue this and hit a big fat dead end. Please let us know what you learn and hope you get some answers!

[Rachel]

Naomi,

Dr. Grubb first mentioned mito to me back in 2007. He believes that I have a mitochondrial disease based on my symptoms, severity, muscle problems, progression of my illness, and lack of response to treatment. He referred me to Dr. Cohen, who also believes that I have a mitochondrial disease.

I was Dr. Cohen's patient for a couple of years, but I wasn't able to finish the testing and diagnosis process with him. He ended up leaving the Cleveland Clinic at the end of 2010. Then I moved in 2011 and again in 2012. It has been hard to follow through with further testing since I keep switching states! Now that I'm settled in one place for a while I want to finish pursuing the mito testing/diagnosis. Mayo Clinic is so close, but I've heard that they are better with testing/treating mito in children than testing/treating mito in adults. I might still go there and see what I can find out.

Meanwhile, I am still being treated for mitochondrial disease by Dr. Grubb. He and Dr. Cohen put me on a mito cocktail because they are pretty sure that I have a mitochondrial disease. The mito cocktail has been one of the most helpful treatments for me.

It isn't absolutely necessary that I get a mito diagnosis. Even if I do, there likely wouldn't be any different treatment. But after all these years, I'd just really like to know the name of this beast, you know?! Plus, it could provide some very helpful information for my children should they have mito too.

[Rachel]

Naomi, what happened with your testing that you hit a dead end? Were you able to do any biopsies or just the blood work? I hope that one day you will be able to find a cause for your dysautonomia.

[HopeSprings]

It isn't absolutely necessary that I get a mito diagnosis. Even if I do, there likely wouldn't be any different treatment. But after all these years, I'd just really like to know the name of this beast, you know?! Plus, it could provide some very helpful information for my children should they have mito too.

Yes, I feel the same way. I would feel better mentally just knowing what's causing my illness. Even if they told me there was no treatment, I'd be better able to accept this. And you're right, if there is some genetic component, it would be so important to find out for our children. I contacted the Mito association and they gave me the name of a specialist in NYC. I e-mailed him (or was it a fax? I forget), but got no response. I brought up Mito to my POTS neurologist and he knew that particular Doctor and said he would talk to him. The response was I didn't fit the profile and he said something about short stature. You have to be short to have Mito? I don't know what he was talking about. Anyway, since I don't know much about Mito, I wasn't in a position to argue, even though I knew this answer didn't sound right. I just dropped it after that. Rachel - this always happens to me. I generally leave Doctor's appointments scratching my head... going... what just happened?

My opinion on what to do in your situation - I would make the appointment at the Cleveland Clinic for some distant date. Go to Mayo and see what they have to offer. If it didn't work out there, keep the appointment at Cleveland Clinic. If the Mito cocktail is helping, it has to mean something! Please let us know what you learn. I haven't ruled this one out, but don't know how to pursue it.

[roxie]

Naomi, I don't believe you have to be short to have mito. I had an old friend who has MELAS, she and her mother who carries the gene are very tall. Around 6 ft.

Don't know of this site would offer any help

http://www.umdf.org/site/c.8qKOJ0MvF7LUG/b.7929671/k.BDF0/Home.htm

[Rachel]

From what I understand, short stature is common with mito, but not everyone with mito is short. I'm 5' 10" and Dr. Cohen never mentioned my height as a reason to not pursue mito testing.

I have an appointment at Mayo in a couple of months. I'll let you know how it goes! I've heard so many mixed reviews, I'm not really sure what to expect. Hopefully they'll be able to help me, but if not I can always take my records and go back to Cleveland again. Cleveland is a 2 or 3 day drive for me now, so I'm really hoping that I can get the help I need here in Minnesota!

[LMG]

Rachel, can you or anyone else tell me what the mito cocktail is? I am guessing it is supplements that affect mitochondria like COq10 etc? Would like to know what they are and how it helps! Glad you found some relief with it.

Lauren

[angelloz]

I tried to get into Mayo in Minn. twice but was turned down...if they could walk a day in my shoes. I'd say if you can get in go for it! Leave no stone unturned.

I too am curious about your treatment for Mito. and how it helps you.

Angelloz

[HopeSprings]

Thanks Bananas! - lots of good info on that site. One thing it said is most patients with Mito have elevated blood lactate. My POTS neuro did test my lactic acid and it was normal. What stood out to me was one Dr. on that site wrote if the patient has mito symptoms plus dysautonomia and other abnormalities like ... (he lists several), but the ones that applied to me were neuropathy and high frequency hearing loss, it might be good to look into Mito. I've had this hearing loss since childhood and there's no good reason for it. So frustrating trying to figure this out for myself.

Rachel - have they found any abnormalities with your blood work that would point Doctors in this direction? Would you mind sharing what things you were tested for?

[Rachel]

LMG,

The supplements and vitamins that mito patients take are often referred to as "mito cocktails." The specific supplements and dosages vary from one patient to another. Here's a page on Mito Action that explains what some of the supplements commonly found in a mito cocktail are for: http://www.mitoactio.../mito-cocktail.

The supplements in my mito cocktail are CoQ10, alpha-lipoic acid, B2, and Carnitor. I never noticed a difference when I added in the B2, but with the other three I definitely noticed a small increase in energy and strength. There haven't been any huge improvements; I'm still mostly homebound. I still have days when I can't think clearly, have my muscles give out on me, or can't move due to muscle pain. But it's better than it was before the mito cocktail!

Angelloz,

I'm so sorry that Mayo Clinic turned you down. That must be really disappointing and frustrating. Do you have a doctor who could refer you? I wonder if that would carry more weight? Or maybe a place like Vanderbilt would be beneficial for you.

[Rachel]

Naomi,

There were a few minor abnormalities in my lab work, but nothing that was diagnostic. From what I understand it is pretty rare to be able to be diagnosed based on lab work alone. Usually patients end up having a muscle biopsy. I have had a skin biopsy, but not the muscle biopsy.

This is the lab work I had:

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

[HopeSprings]

Thank you for the information, Rachel. I think getting an initial screening is reasonable if one can find a willing doctor.

[Miriam Poorman-Knox]

I did go to Mayo , and had this testing. Personally I think it is. I live on an island and must fly to another island to see anyone.

Take advantage of this, If you can get in. I think it will bring you some peace.

[POTLUCK]

I have a mitochondrial diagnosis: Electron Transpost Chain Complex 3 deficiency, by skin ( fibroblast ) biopsy and culture. I recall sending some PM's back and forth asking you and others on Dinet with mito mentioned in their threads, about this testing.

Many disorders are more common in patients with mitochondrial dysfunction which are on the mito action and other web sites along with percentages etc. These disorders are usually of cell types that turn over quickly or are high energy utilizing such as nervous system and hence dysautonomias and seizure activity. Diabetes and other endocrine disorders are another. And of course as you mentioned high end hearing loss. Visual problems etc. Having one, or even multiple disorders in these categories does not of course mean you have a mito disorder.

Initially I had a few lab abnormalities such as a fluctuating but generally mildly elevated CPK and ammonia. The CPK was discovered in the ER my very first day of POTS symptoms, and written off as due to a long hike I had just done the day prior. Later I was referred to mitochondrial geneticist who ran many of the tests on your list Rachel. Acylcarnitines plasma and urine, ammonia, lactate, pyruvate, Urine organic acids, etc.

These tests can be normal or abnormal depending on the day- seriously, not joking they are more likely to be bad if your day is bad, if your symptoms are bad, so the doctor told me on my worse day when I do not want to get out of bed that is the day he wanted me to get to the lab however I did it. ( gee fun )

Many of these tests came out abnormal, most importantly a variety of short and long chain acylcarnitines- short only on initial test, then long chain later. I have also had most of the tests like CBC, Vit D panel etc. listed there. The top test my mitochondrial genome was also done, this was an expensive test done after abnormalities in the others.

Anyways, based on these lab abnormalities the mito doc did the biopsy last spring, results take months to come back and told me of this ETC complex 3 deficiency. He is certain I have it, but is very vague on what it means to me, if it is definitively the cause of my POTS, will it progress ( which is very scary to me) and is it the cause of other things I have such as Diabetes, Hypothyroid, Partial Complex Seizure disorder.

He prescribed a cocktail of medication for me including Carnitine, CoQ10, Vit C 2000mg BID, Vit B1 and B2. I cannot tell you if it is helping much. It is expensive because it is over the counter except Carnitine. Running is helping and it was helping long before I started the cocktail.

I did not go to Mayo for my Mito DX, and will not comment on my Mayo Rochester Neurology experience here.

I hope any of that helps yourself, or anyone else with a mito disorder in the future. I know I was scanning all related words on Dinet and looking up all the info I could in looking for help at the time. Now that I have the diagnosis I find very very little information on my specific illness.

The third complex of the electron transport chain is incredibly complex and difficult to understand for me.

Feel free to PM if anything I can help on otherwise. This doctor said muscle biopsy would have been more likely to pick it up than skin but he only offerred me skin. There are so few mito doctors that I already know Dr. Cohens name when you mention it, as he was one of the ones I checked into, just further away. Makes POTS doctors look common.

[jlmahon]

Rachel, I had testing for mito (muscle biopsy) done locally abut 10 years ago. I' m in the buffalo, NY area. They froze a sample of my muscle tissue after testing and I was able to have it tested at Cleveland clinic years later. My results were inconclusive here and in Cleveland. From what I understand, there is a blood test available now to test for many forms of mito. Does dr. Cohen prefer yvto go to Cleveland? Why are you considering mayo clinic? Are there any options for testing locally?

[Terry]

Hi Rachel,

This is my first posting on this forum. Interestingly, I have an appointment with the Mayo Clinic in Arizona next month and I am suspicious that my symptoms may be related to a mitochondrial dysfunction. I don't know much about them but it is a starting place for me. I have been to three Neurologists locally over the past four years. The last referred me to Mayo. My symptoms first presented in an episodic fashion with dizziness and brain fog leading up to extreme lethargy which usually lasts for the rest of the day. It is like being in an altered state of consciousness. From what I have read about mitochondrial dysfunction it seems to fit. I hope Mayo can sort it out. I am curious if anyone else has experienced anything like this.

[Mydoggielovesme2]

Welcome Terry! I too have my first appt at Mayo Azi in march. Hope you get some answers that help you.

[Rachel]

Thank you, everyone, for sharing your experiences.

Miriam, it is good to hear that you went to Mayo for this testing and found it to be worthwhile. I'm hoping that they will be willing to test and treat me for mito as well.

Hanna, I am considering Mayo because I now live in the state of Minnesota. Travelling to Mayo won't be as time and energy consuming as travelling back to Cleveland. I used to live in Kentucky, and Cleveland was only a days drive away, so it wasn't too bad. Now it would take about 3 days to get there.

Terry, I hope that you're appointment at Mayo in AZ will be beneficial. I wish you all the best!

[Monstrosity]

I saw a rhumatologist friday who has suspicions of mito for my case. He also spoke of Cohen and said hes currently at akron children's hospital. If I have to see him im 20 minutes away.

[Xhale1991]

Hi Rachel,

This is my first posting on this forum. Interestingly, I have an appointment with the Mayo Clinic in Arizona next month and I am suspicious that my symptoms may be related to a mitochondrial dysfunction. I don't know much about them but it is a starting place for me. I have been to three Neurologists locally over the past four years. The last referred me to Mayo. My symptoms first presented in an episodic fashion with dizziness and brain fog leading up to extreme lethargy which usually lasts for the rest of the day. It is like being in an altered state of consciousness. From what I have read about mitochondrial dysfunction it seems to fit. I hope Mayo can sort it out. I am curious if anyone else has experienced anything like this.

I'm think I may have mito. I have all the classic symptoms.... Exercise intolerance being the big one.

Did you get any answers at the Mayo in AZ? Im currently a patient there and am going to ask about testing.