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Pots And Mitochondrial Disease


yuliya
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I would just like to know how many have been diagnosed with both Mito and POTS? I wanted to get tested for Mito but after my Dr. talked to Dr.Grubb he decided it was too rare to bother testing for it. Any one have any suggestion to get him to change his mind? I really think mine is connected since my POTS didn't start out with a virus or injury (had it since I was a kid), and since my symptoms are getting worse I hoped a diagnosis of mito might lead to better treatment.

Thanks for any advise and suggestions.

Yuliya

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I hope you get some answers to this one. This is an area I am looking into too. I recently contacted the Mito Association and had a nice long talk with the lady there. I told her all about my POTS/CFS diagnoses and she seemed to think Mito was worth looking into. She gave me the name of a reputable Mito Dr., so I contacted his office. They said he would need medical records to look at first and then decide whether to see me or not. I sent him my autonomic test results, along with a letter explaining everything and a list of symptoms. He may tell me the same thing Dr. Grubb told you - too rare, don't bother. We'll see. Soooo - if you want to look into it, you could always find a Mito Dr. yourself and see what they think about it.

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Yes it seems that dr.grubb has helped my dr with a lot new medications to try but took away my hope of mito testing. Lol. My dr was all for it at first. I'm very disappointed but at least I have tons of new meds to try. I still feel very strongly about the mito and hopefully I can change his mind.

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I'm one that did test positive for mitochondrial disease, and you are correct it's not easy to find doctors knowledgeable enough about it. Just like getting doctors to look into autonomic issues, you have to do the same problem with finding someone to help diagnose mitochondrial dysfunctions. It took me 5 years and 30 doctors, don't give up.

Again I looked up the closest MDA office to me, saw a geneticist first who agreed mitochondrial dysfunction can play a large roll in causing autonomic breakdowns. Then was forwarded to a mitochondrial specialist. The main problem is the cost and how invasive a muscle biopsy is, once there is a simple swap DNA test I think you'll see a huge increase in who's tested for this.

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  • 4 weeks later...

My cardio doctor came to visit me while I was getting infused today. He has been very concerned about me and that I have not improved in the past 3 1/2 years. I was seen in the ER the other night for near syncope and hitting my head over and over again. After going into full details of the events that are taking place in my exciting world at night, it sounds like I'm may be having seizures. He's setting up a halter monitor, I think this is # 101 and I see my PC in the morning. Then he said, " That is why I'm so concerned about your leval 3 stress test that came back suggesting neuro/muscular disease". "When yours came back there wasn't much thought about Pots pts and mitochondrial Disease and now we are seeing many come back like yours who end up having mitochondrial myopathies". He sat on my bed as he told me all of this and how all of this is going to get me a really good intense work up. Then I continued to tell him more and more things that have gone wrong, My body falling to sleep and my memory since the falls, the stroke like eposodes, how the mestion helped my drooping eye and elephant on my chest. He was so excited about all the work, Mass General Hostipal In Boston is doing now in this area.

Then latter on I googled mitochondrial myopathy and I got scared and started to cry. I wanted a real hug, but my dog didn't want to come over and hug me right now. He's usually ontop of me, so he knows something's up. I don't want to cry and scare the dog because he has seizures now. He's been seizing for a year now and I think I've been seizing longer, but been in denial. When I think of how my dog looks trying to walk when he has a seizure, that is how I look trying to get back to my bed but can't.

So, please come to Boston if you need to be tested. You can call Neurolology ~The Movement Clinic @ Mass General Hospital, Boston, Ma.

OK, NO FEAR NOW, I just had to tell someone I was scared. Going to bed so I can get up early for the PC. Come on doggie, we are going to bed.

love,

Bellamia ~

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At my last appointment my neuro told me there was a strong possibility I had it. Based on some testing he'd done at my first appointment he'd put me on a kind of 'mito regimen' (some of the supplements are listed in my sig.) It did help a LOT with the GI symptoms, but I wouldn't call it the miracle cure or anything.

At the time he just called it supplements for my POTS and two weeks ago was the first time he actually mentioned mito to me, I assume because he was doing a clinical study about mito and POTS and wanted me to participate.

I agree Naomi about contacting the Mito Association. They seem to have considerable resources at their disposal, at least as rare disease advocacy groups go.

And don't give up until you get what you want out your doctors.

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  • 2 weeks later...

Had my first appointment the other night, at 4 pm. First the doctor was the nicest doctor and I was truly blessed, to even be seen by him. First start, MRI he was concerned I'm having seizures. Left hospital 11 pm. We will meet in 4 weeks and decide if I'll be admitted to complete the process. One night did me in for two days. Don't know how I'll ever do the rest of the tests. I told him I could never repeat the level111 Stress test. I already came back neuro / muscular disease and my body would not take it.The way I bleed I don't know how I would ever do the biopsy right now either. When the dear doctor asked who brought me, I could not remember my friend's name. Good thing he has a wonderful sense of humor and my friend also. Whew, I passed the dementia test.... I don't know how!!!!! He gave me so many clues to all the words I forgot. I'll never forget Texas, Blue, or Honesty ever again in my life. I really felt like I was in the hands of an Angel though ~ God is good, I'm very Blessed ~

If anyone thinks anything is going on a mito wise, do a family medical history on paper. Look at your mother's mother and down list everything. Then about you. Write down everything about you that may be different about you from your siblings and similar with your mother. Write anything similar with siblings. Write anything similar with your children that you see and the same with your grandchildren. This would have been much easier if I had a form to fill our before hand. Having hit my head just recently my responses were slow and I come from a large family where people don't talk about being sick, maybe in denial about me, or it's easier to look the other way. Good Luck to all ~

HUGS~*~ Bellamia ~

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BellaMia,

I'm glad you liked your doctor, that's half the battle. But their office should have sent you the family medical history (your genetic medical tree) paperwork to be filled out at home and bring it back in. That's tough to do right in the office, I know I took a week, made calls to other family members to get it all right. One quick note though, mitochondrial diseases are not stricky passed on from your maternal side. When it is maternal, its a defect in your mtDNA (mitochondrial DNA), more of these are the known variants. What they're finding more and more is defects in nDAN (nuclear DNA) that interact with mtDNA and cause a mitochondrial breakdown. So you can inherit this from either your mother or father, so when you fill out your genetic health history look at both sides just as carfully. Good luck I hope they can give you some answers.

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Thanks Todd,

L@@ks like I need help or a mini course in mito 101. Nothing is easy when you are tired and you already have a bazillion things to do. Please feel free to be my guide and tell me what to do along the way. Thanks for your help and kindness ~ Maybe there's a group on facebook that I can just read and not join to gather info or someplace that birds of the feather flock together ~

BellaMia ~

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bella mia and todd:

Bella~ i love your posts, as they all make me smile, you have the humor that i have!!!!

Todd~ I've been working on trying to find a facility to test me for mito-disease.........i have govt insurance and i called the MDA and no one, so far that i have found, within the MDA 'system' (in the state of TN) will accept my insurance in order to get tested. I've still yet to discuss this with my doc, as i won't see him for a few weeks but his nurse calls me alot. I wanted to ask you, Todd, what meds are useful for mito disease? Also, do you know if mestinon will help with mito, or affect it at all?

thanks a bunch!!!!

tennille

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Mestinon works on acetylcholine and helps people with parasympathetic withdrawal. For some people its their sympathic nervous system in overdrive, for others it's their parasympathic nervous system not engaging. I don't think mestinon will affect mito problems either way. I'm not sure where you're close to but the University of Tennessee Medical Center wouldn't take your insurance? I could understand if a mito specialist wouldn't, but a university medical center.....I never would have guessed. As far as mito cocktails go, they are different for everyone and it depends on what is found in your blood work, spinal tap and muscle biopsy. The main item for me is CoQ-10 (Tishcon's Q-Gel)

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Mestinon works on acetylcholine and helps people with parasympathetic withdrawal. For some people its their sympathic nervous system in overdrive, for others it's their parasympathic nervous system not engaging. I don't think mestinon will affect mito problems either way. I'm not sure where you're close to but the University of Tennessee Medical Center wouldn't take your insurance? I could understand if a mito specialist wouldn't, but a university medical center.....I never would have guessed. As far as mito cocktails go, they are different for everyone and it depends on what is found in your blood work, spinal tap and muscle biopsy. The main item for me is CoQ-10 (Tishcon's Q-Gel)

Todd~ thanks for the quick reply! yes, it was UT who declined my insurance.... actually she said word for word 'we do not accept or test any new patients with BlueCare tenncare".... so yea, i was shocked since UT is a research center..... so now, im not sure what my chances are, but im not giving up on trying to find someone...... this im going to discuss with my doc. Oddly that i am taking, er, well, i was till a week or two ago.... taking the coQ10..... I was trying to go off some supplements and a few meds in order to gear up for this mestinon that i started on friday. Im going to slowly add my supplements back..... how many times a day do you take the coq10? Funny that my doc, who is an integrative doc, talked about some 'in house' meds that they mix and put together in their office and would give it to me in their office that would target my symp and parasymp, as we both just know they are very out of whack...... we talked about that 2-4 mths ago and we haven't yet done it.... looks like i will ask him aobut that and see what it was they were going to try on me...... now im really curious......

thanks todd for the info!

tennille

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tennille,

I'll beam you up here and we'll get you hooked up and dxed my friend. If you are going for a dx the doctor said don't start any more supplements, as they can give false readings for the test. But he did mentioned for me there would hopefully be a cocktail LOL!!!!.I haven't had one in ages :rolleyes: to try to reverse to damages done, but this could all just be POTS worsening and It looks like I have had it since I was a child and that it looks like it runs in the family..... Although, it very well could be mito too. It is very hard to remember everything when you are alone and it's late in the day, and you are exhausted and missed your hydration that day. Duh, what's up Doc????? Tell me more, tell me more!!!! Darn I should have recorded the visit with my i pod. Woulda, coulda shoulda.... Oh well!!!! DIDN'T ~ :unsure:

BellaMia ~

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tennille,

I'll beam you up here and we'll get you hooked up and dxed my friend. If you are going for a dx the doctor said don't start any more supplements, as they can give false readings for the test. But he did mentioned for me there would hopefully be a cocktail LOL!!!!.I haven't had one in ages :rolleyes: to try to reverse to damages done, but this could all just be POTS worsening and It looks like I have had it since I was a child and that it looks like it runs in the family..... Although, it very well could be mito too. It is very hard to remember everything when you are alone and it's late in the day, and you are exhausted and missed your hydration that day. Duh, what's up Doc????? Tell me more, tell me more!!!! Darn I should have recorded the visit with my i pod. Woulda, coulda shoulda.... Oh well!!!! DIDN'T ~ :unsure:

BellaMia ~

Bella!

You are such fun on here! I didnt' realize the supplements could bring false readings... i will make sure i stop them in due time for future testings!!! Thanks so much for pointing that out, cuz i wouldnt have thought anything about it. It seems that i am on a cocktail of things now! I do need some diagnoses.... but things are going slowly..... i have a mind to write down a list of what i need to be tested for, that way my doc and I can get busy the next time i go to see him! Im not giving up, and as todd says, keep going, keep trying, keep searching...... :)

love your posts bella!! they make me smile!

tennille :)

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Bella!

You are such fun on here! I didnt' realize the supplements could bring false readings... i will make sure i stop them in due time for future testings!!! Thanks so much for pointing that out, cuz i wouldnt have thought anything about it. It seems that i am on a cocktail of things now! I do need some diagnoses.... but things are going slowly..... i have a mind to write down a list of what i need to be tested for, that way my doc and I can get busy the next time i go to see him! Im not giving up, and as todd says, keep going, keep trying, keep searching...... :)

love your posts bella!! they make me smile!

tennille :)

Thank you tennille, I got the good sense of humor gene from my father. We were very witty together. I carry it on in his memory and try to instill it in my children and grandchildren. You have to laugh in life. I'm l@@king into laughter yoga online. Maybe to learn and to giveback to those who help me so kindly. Laughter is the best thing we can do to release stress when we are unable to exercise. Check it out ~

Another thing always be an ADVOCATE for yourself in the medical system. If you can't find what you wan,t look for a study. My mom always said, "God helps those who help themselves." Life isn't always easy, but add a Big smile and always tell your doctor everything that is going on at every visit don't assume they know. Get copies of your chart, make corrections. Everyone makes mistakes, I just learned that We ASSUME they know everything from the other doctors who send them notes. Check for mistakes, as other doctors use voice to text when writing notes. so it is so important to check everything. This all becomes your medical history.

We are so lucky to have Todd who has walked the walk and talked the talk and can guide us. I'm so thankful for everyone here. For the input whenever I may need it. this is the best forum ever where people really care for one another.

x's

BellaMia ~

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anyone here with it that just did the supplements vs the testing?

I'm just doing the supplements. The testing seems expensive, isn't fully conclusive, and in my area I would have to go to the Cleveland Clinic, something which I'm loathe to do unless I get a referral to a doctor I trust.

I pulled up this page over at UMDF. They have a lot of good info on doctors and hospitals too.

Getting a diagnosis of mito

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I'm just doing the supplements too. Have an herbalist advising me as far as doses etc. Tried to get the testing done but too many roadblocks and seemed like a good chance they'd just come back inconclusive anyway. If there were some good treatment options available with a firm diagnosis, I'd be more willing to really push for the testing, but that's not the case so far.

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If you only do frozen tissue testing of the muscle tissue many are inconclusive because this only tests for known variants, genetic blood testing can also test for these. What you need to have is fresh tissue testing, currently this is only done in three locations, Atlanta, San Diego and Cleveland. This type of testing will detect breakdowns in the 4 complexes in the oxidative phosphoryation process. Currently in research stages are DNA swab testing, but at the present time only are dectecting complex 1 and 4 breakdowns. UMDF.org, mitoaction.org and MDA.org are good sources of information.

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I have a question. The very little bit I've read up on mito disorders, it seemed to imply that it was something that had symptoms from toddlerhood. Is that true? Or have I read up on it at the wrong places? So, is it something that they are finding in people way into adulthood?

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Much of thr research out there has been on these rare genetic defects that manifest themselves from birth to early childhood. These are the known variants you read about and most of these are fatal. The types of mitochondrial dysfunction you're going to find in people with dysautonomia are breakdowns in the oxidative phosphoryation process. This type of testing is new and part of the reason many doctors are failing to connect mitochondrial disease to dysautonomia, all they know about mito are the deadly variants seen in infants......if they know that.

What I can tell you in my case is I was told I couldn't have POTS becvause I didn't pass out, then after I failed my TTT I was told I couldn't have mitochondrial disease because it wasn't connected to dysautonomia and was very, very rare and not worth looking into. This isn't to say everyone is going to follow my diagnosis path, but don't let doctors lack of knowledge stop you from finding answers for yourself.

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Okay, I understand what you're saying. I totally see where the severe cases are obvious in childhood, and I guess if the conditions get right in adulthood, it can show up and affect the bodily processes. We certainly do need a good research group to understand the syndrome of POTS and its triggers.

BTW, I have something I've been meaning to post(for a week now!) that is pretty interesting about alot of our common conditions, other than outright POTS. We might actually all be a "family", from what I've found!

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most docs have no idea what mito is, that is the huge problem. They claim 1 in 4,000 babies will have a diagnosis of mito in their lifetime now. There are some severe variants and not so severe variants, also it's patient dependent and down to pure luck sometimes which ALSO makes it hard for doctors.

I have had various medical issues since I was a child. My child has had issues since birth.

It's going to be bigger than AIDS and no one knows what it is, scary if you ask me

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Hummmm, I'm thinking out loud ~ I spent about half of my life hick-cupping. My mom would always say when I was little that I was over tired. Made sense to me ~ I was always ~ When I had surgery once the young student nurse told me I started hick-cupping in the middle of surgery and the doctors thought I was starting to have a seizure. She brought it up as, I was having the hick-cupping going on for the rest of the week. When I would get them they would be long and hard. Very hard to make them go away ~ I would be so exhausted, trying every new remedy I could find ~ I wonder if any of you also had this affliction? Since my meds this does not happen like it used to but I'm so exhausted and with all the heat my head is killing me ~ Wondered if this was a mito thing????

:o BellaMia ~

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