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...