megan2

You have mildly increased levels that could be attributed to a metabolic disorder. However, these results can mostly be explained by the diagnosis of Gilberts disease...a condition that does involve a mild degree of metabolic dysfunction. Elevated ammonia is a findingf associated with many metabolic disorders including organic acidemias, urea cycle disorders, fatty acid oxidation disorders and some Mito disorders. However, liver disease can result in mildy increased ammonia levels as well. Given that your level is only mildly elevated, the likelihood of it being abnormal due to a metabolic disorder is fairly small...though possible. Same goes for amino acids. You did not have a pattern consistent with Mito.,,for example your alanine level was not elevated. Again though, your test could be 100% normal and you could still have Mito. the whacky kevels could be partially affected by a b6 deficiency.. you could ask your doctor to test your levels. good luck!

I am. Five years ago, I received IV hydration (dextrose, potassium, sodium) a couple of times a week to help with periods of vomiting and reduced intake. When things worsened, we upped my dextrose concentration to 10% from 5%. When I was no longer able to eat, they placed NJ tube initially and then a permanent j-tube. I didn't tolerate j-tube feeds, and am now dependent on IV nutrition (TPN). I have been on TPN for about three years now. Prognosis varies significantly and depends on the underlying condition, overall health of health, immune system function, the severity and location of dysmotility... Severe GI dysmotility plus dysautonomia is usually due to an autoimmune disorder OR a mitochondrial disorder. Autoimmune Gastrointestinal Dysmotility (AGID), a subset of Autoimmune Autonomic Gangliopathy (AAG) is treatable--motility can improve w/ immunomodulatory treatment(s). Mitochondrial disorders are managed using supplements like carnitine and coq10, but overall, they aren't treatable at this point in time (w/ the exception of MNGIE) and often these patients will experience disease progression. I know a lot about his stuff and am happy to help answer any questions you might have. Send me a message as I don't always remember to check back on the forum.

i am not sure, but mito conditions can cause temporary hearing loss. hope your brother starts feeling better soon!

Yes, any doctor should be able to order the profile, interpreting it might be another story. http://fodsupport.org/ has some information if you are interested. Good luck! PM me if you have any questions!

Interesting you say that...that has never been officially reported, however, with long chain fatty acid oxidation disorders, some specialists believe that theoretically, carnitine can cause arrhythmia Have you had an acylcarnitine profile? That might point to a diagnostic direction; many FODs do not require a muscle biopsy to diagnose. When people say "mito" they are usually referring to OXPHOS disorders (complex 1, 2,3,4,5) however, sometimes FODs are considered a type of mitochondrial disease because the problem occurs in the mitochondria. FODs usually result in abnormal organic acids. Treatment is a low fat diet supplemented with MCT oil. There are some good clinical trials open as well. I have seen Dr. Cohen over at the Cleveland Clinic...he is awesome. His staff I've had some problems with, but Dr. Cohen is great.

Dana, my urinary organic acids were normal. Are you able to go to the Cleveland Clinic at all? That is another option. Dr. Kendall will meet with you via skype or phone chat, but it is harder to get insurance to cover that than a normal visit. You may want to try the supplements if you can afford it. If it doesn't help after a month, you can stop.

Todd- do you have a mito specialist? Have they written a letter for your insurance company? That sometimes helps. Are you trying to get cyto-q covered? As for biopsies I agree they are necessary because we don't know all the gene variants yet. However, diagnosis is only certain if they can find the gene. They haven't found the gene responsible for my mito yet either, although they have found 4 mutations of unknown significance. I also had signs in my bloodwork, such as elevated alanine. However, your labs have to be really off for any of that to be diagnostic and it wasn't with me so we proceeded with the biopsy. I had a fresh muscle biopsy done in Cleveland. I have mtDNA depletion and secondary CPT2 deficiency. I have never had a CSF test. I am still waiting on some results from the biopsy--it has been two months since my biopsy. Todd brings up a good point about CSF testing. Sometimes if they can't find anything in the bloodwork, they will run some of the tests on CSF fluid.

Oh I forgot, if you pass out, invest in a medical bracelet. Medic Alert has a service that will contact a family member/friend for you which is helpful, but if you can't afford it, a regular bracelet is fine. I would say this is a must if you are living on your own.

First, congrats! Second, register with disability services. Even if you find you don't need the services, it is better to have them, then get really sick, and then try and get them later. Disability services can help get you: notetakers (really helpful if you have to miss class), priority registration (classes fill quickly! with priority registration, you will get more choices about class times), dorm accommodations (do you need a single? i know you said you don't use a wheelchair, but maybe you need a handicap accessible dorm because you have trouble with stairs?), etc etc. Third, talk to you professors in the beginning of each class if you are worried you may have issues and need to miss. They are more understanding if you approach them in the beginning, and ask what you should do should 1) you be really sick the day of a midterm and are in the hospital 2) you miss class because of a doctors appointment....you get the idea. Fourth, how far can you walk? Do you need a centrally located dorm? What do you need to make walking or driving (not sure what kind of campus you have) easier on you. Fifth, do you have trouble with nausea? Do you need to be on a reduced meal plan or off the meal plan? Do you need to work with the cooks/dietitian to come up with food that you can eat? And much more, but that is the starting point. I hope college is everything you dreamed i would be. As for ending up in the emergency room...have a good plan of how to get there. I hope you can avoid it, but it's better to be prepared. (Check with health services and see if they offer IVs...that might save you a trip to the ER...I am not sure what you go to the ER for). I ended up in the ER many times my freshman year, but I made it through okay. I'm sure you'll be alright too.

For a mito diagnosis, doctors usually begin with an "analyte" evaluation (creatine kinase, lactate, plasma amino acids, urine organic acids, acylcarnitine profile). If that doesn't show anything diagnostic they will proceed with genetic testing. They can sequence your entire mtDNA genome and for adults will also usually test the POLG gene. The Cleveland Clinic uses Transgenomic to do genetic testing. Some other doctors are using the new Medomics test, which is a new promising technology. Most clinical trials will NOT accept patients diagnosed through muscle biopsy. Some doctors like Dr. Kendall are not even doing muscle biopsies anymore. Check out mitoaction.org for Dr. Kendall's presentation on muscle biopsies. Muscle biopsies are invasive, and sometimes people can have normal biopsies, but still have mito. The new "gold-standard" is finding a pathogenic gene mutation. That is the ONLY way to have a 100% sure diagnosis of mitochondrial disease. That being said, sometimes the genetic testing and analyte testing cannot reveal a diagnosis. In that case, they might decide to proceed with a muscle biopsy. A muscle biopsy can show mitochondrial dysfunction; however, a muscle biopsy does not distinguish between mitochondrial dysfunction caused by primary mitochondrial disease or caused by another condition. Some that are diagnosed with mito through muscle biopsy, have been rediagnosed with other conditions. Even so, currently, a muscle biopsy is the most common path to diagnosis. Most of the gene mutations have not been identified yet, making it impossible to diagnose some people with mito through genetic testing. This is changing with the development of the new Medomics MitoDx that looks at the entire mitochondrial genome; within a year, they hope to have another test on the market that will test for nuclear genes. (Mitochondrial disease can be caused both my mtDNA mutations and nuclear DNA mutations). It is important to see a mito specialist so they can interpret the tests and direct testing. Most mito specialists use a "step-wise" approach, meaning they do one level of testing at a time. Dr. Shoffner is the exception--he will do a biopsy on first visit. If you have a primary care provider, or doctor at home do the first level of testing, specialists often find that helpful. Todd, the Cleveland Clinic does do fresh muscle biopsies. They do fresh testing through the CIDEM lab in Cleveland. They don't do all testing at the CIDEM lab, some muscle is frozen and sent out (for glycogen and mtDNA depletion testing). Only certain tests like OXPHOS polarography require fresh muscle. As for treatment, tests for mito may, or may not uncover some new treatment options. It depends on what type of mito you have, and if you are deficient in anything. For example, if you have low coq10, supplementing coq10 may help (more than if you had normal levels). Same goes for creatine, carnitine, etc. With a confirmed mito diagnosis, you can get insurance companies to cover the supplements...especially if you get the medical food version (Solace Nutrition). Sometimes it require appealing a decision, but many mito patients have their cocktail covered. The supplements haven't cured me, far from it. But they have improved many of my symptoms. Not everyone will have a positive response like me, but it is usually worth trying. In my case, a fresh muscle biopsy pointed to new treatments we had not started before such as a low fat diet and creatine.

I was denied the first time through. I was approved in the reconsideration phase. I did get a lawyer, although I'm not sure he did much other than show SS that I was serious about getting this approved and wasn't going to give up. My lawyer didn't expect to win during reconsideration (he told me only 10% are approved) so I guess I was lucky. The lawyer only gets back pay fees, which to me was I rather pay him 25% of my back pay then fight this forever and have to deal with the headache, and possibly not get approved. You won't have to pay any money out of pocket for the lawyer. SS sent me to see their doctor (twice), their psychologist and do some tests for them (which were pointless, for example, why do I need a hand x-ray??) When I first filed, it was "just" under "POTS, CVS" by the time I completed reconsideration (a year later), I also had EDS, myopathy, and suspected mitochondrial disorder. I am wheelchair bound, and am unable to write (this was a big selling point) due to severe muscle weakness.

I would double check and make sure that insurance won't cover. Insurance covered 100% the cost of my mtDNA testing. Granted, I have good insurance. An mtDNA study can be diagnostic in some cases, and can actually pinpoint which complex and specific issues you may have. However, it may not show anything interesting either. That would not rule out mito, it would just mean that you aren't any closer to an answer than you were before. There is one final thing to consider. My test was non-diagnostic for any type of mito that would cause my symptoms, however, it showed that I have a mutation causing a different mitochondrial disease that presents at an age older than I am currently. I am therefore at a higher risk of developing symptoms later on in my life, although this is not guaranteed. I do not like knowing these things, and would have preferred not to learn of that information. An mtDNA study has the advantage of being non-invasive (blood sample or saliva) versus the biopsy, and is usually recommended as a first step; if inconclusive, biopsy testing may follow.

Exercise is a bit different with mito versus primary dysautonomia. The goal is to push to the point of fatigue, but not past. Overdoing it can be harmful if you have mito. However, exercise can also be one of the best things for mito (and for dysaut!). http://www.mitoaction.org/guide/fatigue-an...ise-intolerance http://www.mitoaction.org/files/Mito%20Exercise%20Guide.pdf I have two articles from the umdf...but I don't know how to attach to a post. They are in mito 101, and if you sign up for a free account you can access it (umdf.org) or PM me and I'll email them to you.

I have been to the Cleveland Clinic, but it was for another reason, and I have not seen any of their dysautonomia doctors. The Guesthouse has a convenient shuttle system to the hotel, which was nice. You pay more than if you were to stay in the city, but the convenience factor made it worth it for me. It is clean and smoke-free which the two criteria I have for hotels... The sheets are cheap, and it definitely is not a luxury hotel, but it was fine. Free parking right there as well. The Intercontinental is a bit more expensive, and then there is a second Intercontinental which is even more expensive. Granted, they are nicer....I don't know what your budget is. Both are also located on campus. It is my guess that if you're just scheduled for the one appointment, that you should be finished there by the end of the day and should be able to fly home that night. You can always call and ask...

http://www.curemito.org/index.html Might be of interest...

I am still waiting on test results looking at what specific type of mito I have. My carnitine level was not tested prior to supplementation, since the doctor who originally suspected mito only wanted to treat it, and said not to worry about diagnosing it. Later doctors said that they really should've drawn a level since that would've made diagnosis easier. Carnitine when prescribed by a doctor, should cost the same as your copay for generic drugs which for me is $10. I get it IV now though, so it's a little bit different how they bill for that. Over the counter, carnitine costs about $15 a month. Different places will differ on how the muscle biopsy is done. The Cleveland Clinic does all biopsies under general anesthesia. I would recommend getting DNA testing done before going to a muscle biopsy, since the biopsy is an invasive procedure. They usually perform a screening test first, which will test for specific types of mito, usually MELAS, MERRF and some others. However, I think most people on this forum (if not all), will not have one of those specific disorders. Instead they will have complex 1, complex 2, etc deficiency which is another naming system for mitochondrial diseases. After the screening test, they can do a whole genome mtDNA anaylsis, or there is a new test MitoDx that some clinicians are using. Those test for over 200 mutations, versus the screening test which is around 11 mutations (can't remember the exact number). Supplements used for mitochondrial disease are thought to slow progression of the disorder. So they're usually important regardless of whether you see a huge improvement. There are different qualities of the supplement too, and some brands are recommended over others. Severe motility issues usually do cause doctors to raise the possibility of a mitochondrial disorder (if you have a good doctor). All of the POTS people I know who later were diagnosed with mito had severe stomach issues with their POTS. Some nausea and dysmotility will occur with POTS, but when stomach symptoms predominate and are very severe, sometimes mito is the issue. Lieze--re amino acids, one specific amino acid they like to look at is alanine--when elevated that usually suggests an error of mitochondrial (pyruvate) metabolism. Vitamin C is usually included in a mitochondrial disease cocktail and is an important antioxidant as well. In terms of how to think about it, that usually changes too. Energy conservation becomes important. When you start to crash, you figure out new ways to get energy (food, sleep). Infections can be a big problem since they require your body to use more energy. Fasting or dieting is a big no-no. It is amazing to me how I can run one day and be wheelchair bound the next, and it comes down to the fact that one day my batteries are full, and the next empty. I am more careful now to think about this idea of energy, and that has helped me out of a lot of bad crashes.

Hi Angela, MNGIE is a specific type of mitochondrial disease. A few types of mitochondrial disease are defined by acronyms, for example, MNGIE, MELAS, etc. The syndromes can be caused by the same mtDNA mutation, or may be caused by different ones. MOST people with mitochondrial disease do NOT have a syndrome like MNGIE. Therefore they can have some of the symptoms, but not all. Mitochondrial disease can cause dysautonomia, and some mito patients will test positive for POTS. Dr. Cohen at the Cleveland Clinic (one of the well-known specialists), told me that he has never had a positive test result for mito in pure POTS patient. However, in your case, you would not be classified as a "pure POTS patient". The main point I guess is that POTS can be a symptom of mito, but mito patients will usually have other symptoms in addition to POTS. Low carnitine levels are usually fairly easily remedied with Carnitor (which is the prescription versus of l-carnitine). If levels do not rise upon oral supplementation, sometimes IV carnitine is used. With poor dysmotility, it can sometimes be hard to absorb carnitine through the GI tract. They can't really just add mito DNA testing to other samples you have. Mito testing is really complicated, and quite expensive. In your case, I believe your insurance company will cover testing, if billed properly. Because of your low carnitine levels, there is some evidence that the test is needed. I had my whole mtDNA genome sequenced, along with other genes such as the POLG. This, along with some other mito tests, cost my insurance company about 12,000 dollars. In order to get a mito diagnosis, they usually begin with analyte testing (bloodwork), for carnitine levels, plasma amino acids, urine organic acids, lactate, etc...and then move one to genetic DNA testing. If none of that confirms a diagnosis, they will then do a muscle biopsy. A muscle biopsy can be done fresh at four places in the country, however, most people will go to Atlanta (Medical Neurogenetics-Dr. Shoffner), or the Cleveland Clinic (Cohen, Parikh, etc). A frozen biopsy can be done in many more places; however, a frozen biopsy will not show mitochondrial disease up to 20% of the time versus a fresh biopsy. It is true that there are no FDA approved treatments for mitochondrial disease. However, there are things you can do. Carnitine supplementation would be included in your case (because of the low levels). Carnitine has been a miracle for me, I went from being completely bedbound to RUNNING. There is HOPE. I always thought there was nothing they could do for mito, but the diagnosis has opened up treatment options, and I am doing better than I would've ever dreamed of before. I went from being very very sick, to just sick. For the first time in a long time, I am a functional human being. The prognosis for mito is not encouraging, however, not all cases of mito will have such a severe prognosis. Generally, the rule of thumb is, the younger you are, the more severe the disease. I know adults with mito who have lived many years, and into old age, and do alright. Obviously, some will have a more severe progressive disease course, but this is not a given. Finally, the road to diagnosis with mito is often long. Patience is definitely required (something I found very difficult). Best of luck! Megan

http://www.arcticheatusa.com/

Hi, Is muscle weakness something that goes along with POTS, or would muscle weakness be due to another condition? I have respiratory muscle weakness with MIP and MEP about 20% (pressures around 30 mm H20). I have weakness of my mouth/swallowing muscles, and my arms, legs, and hands. Has anyone had an EMG? Thanks.

Domperidone can cause QT interval prolongation, which can cause dizziness. It can also cause sudden death to torsade de pointes if your QT interval is long enough. I would have an EKG done while on the drug to make sure your QT interval is within acceptable limits. For most people this is not a problem, but if you're having any cardio side effects...please get an EKG! Domperidone helped me a lot, so I know it's a great drug and can be worth it, but for me because of the cardiac side effects I could not continue taking it. My GI didn't really think the QT issue was something to be concerned about, but the other GI in the office who was substituting for him one day got angry that they weren't running EKGs and my cardio made me stop it. I was also having severe chest pain though. It also made me sleepy, but that was more a nuisance.

Kexia, can I ask what made your doctor mention it? To pursue testing is an individual decision. The doctor who first mentioned mito to me told me not to bother with diagnosis, and prescribed me treatment (prescription l-carntine, Carnitor), and the Tischon coq10 q-gels (ubiquinol like Todd said). The mito cocktail varies from person to person and can be more fine-tuned with more advanced testing, but whether there is much benefit to that depends on the individual case. Then, I didn't know much about mito, and just sort of tossed it aside, and went along with what that doctor said. For me, as my illness has progressed, more doctors have suggested that I might have mitochondrial disease. Although in the beginning, all my symptoms fit under POTS, they no longer do, and my doctors and I would like some answers as to why I am having so much trouble. Testing is harder now, since you have to stop the supplements before pursuing testing. However, for me, I wasn't ready to undergo an extensive evaluation last year, and I am now. My personality has a lot to do with it. Even now, I'm conflicted, but I am also very sick, so I am hoping for some answers and some help. I hope I am making some sense. Good luck deciding. It's not an easy decision to make.

Poohbear, for mito they recommend certain forms of coq10 (brand DOES matter). The ones I found tolerable to swallow (liquid preps taste terrible), are the tischon q-gels. Tischon qgels are very expensive, the place most people order from is epic4health. i found tischon's qgels on swanson vitamins though for much cheaper. i think it's the same thing, and the price difference is quite significant. i take the mega 200 qgels. I don't have confirmed mito, but quite a few doctors have mentioned it. I am going for testing in March. To my knowledge, mito causes autonomic nervous system dysfunction. I know a couple others who presented primarily with POTS but their POTS is secondary and due to mito. I have POTS which they think is caused by mito (along with cyclic vomiting syndrome, severe muscle weakness, respiratory problems, etc etc).

I know for me, when I fly my oxygen levels drop (I have a pulse-ox and I measured in air). This causes severe tachycardia and I seem to go in and out of consciousness when we're up in the air. I did wonderfully when I flew with oxygen. But oxygen is really expensive (100 per flight segment!).

I guess it depends on the person. Also, I was thinking about the fact that this is a kid, and not an a adult. I used that dosage IV (not tablet, so maybe it's different) but I had a severe reaction and had to be hospitalized. I am also pretty tiny and sensitive to drugs, so those dosages might be fine for adults, but I wouldn't give more than that to a kid on a daily basis. Granted they do use those higher dosages in cyclic vomiting syndrome, but not everyday. Then again, we are all different...

Glad you have some answers. Do you know what to do in terms of treatment? I don't have a diagnosis, but I have some awesome doctors who are pretty good about treatment. There a mito "sick" formula and then a mito "chronic" formula to take every day, I have the adult dosages. Just in case (or for others reference) they are as follows: Recommended Treatment for Mitochondrial disorders Supplements for Chronic Treatment: Coenzyme Q10: 10 mg/kg/day (preferred sources: Vitaline, Tishcon) B50 (Stoichiometric combination of: thiamine, riboflavin, niacin, pyridoxine, biotin, folate, pantothenic acid and Cobalamin) 1 tablet 2 x daily for adults and 1 tablet once daily for children Possibly Carnitine (50-100 mg/kg/day) ? more for those with myopathy (muscle disease) Sick formula (given at onset of infectious illness and continued for 5-10 days): 10 mg Biotin 1-2 grams Vitamin C (25 mg/kg/day sustained release divided BID sustained release or QID standard tablets) 30 mg Zinc 5-10 mg/kg/day of chelated Magnesium divided 2 x daily 200-800 mg alpha Lipoic acid (5-10 mg/kg/day divided BID)