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Got A Call From Mayo Clinic Geneticist ....


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Got a call from mayo clinic's geneticist that i saw when i was out there a few weeks ago ......

he did testing on me for vascular form ehler's danlos which thankfully came back normal. however he did a baseline screen for mitochondrial disease, specifically looking at "carnitine" and he said it came back abnormal. he raised suspicion of something called MNGIE disease, which i guess is extremely rare and has a very poor prognosis. though i have some of the signs and symptoms, i do not have them all but he told me i should "keep this on the radar" if things progress.

it sounds like this is primarily a GI issue (which i have) but i asked him if findings of POTS or autonomic dysfunction could be seen with this and he didn't seem to think so but in the same breath said "but we don't even know that much about POTS to really say whether or not this can be a feature"...

i would think with ANY mitochondrial disease, there could or would be disruption of the autonomic nervous system as the mitochondria are the "powerhouse" of the cell's and therefore seemingly i believe could or would involve ANS disturbances .....

anyone have this? been checked for it? know anything about carnitine levels specifically?

he didn't run DNA specific tests for this, but whatever the broad view screen is for mito is what he did (blood test) and showed abnormality .....

thanks for any input, advise, guidance ...

Angela.

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Hi Angela-

Whoa. It's always something, huh? Sorry to hear, but like you said, your case (if you have it) fairly mild. Here's a link to a good site with info:

http://www.ncbi.nlm.nih.gov/bookshelf/br.f...∂=mngie

They do say that the DX can only be given IF you have the white matter in your brain as detected by MRI. I'm sort of surprised this doc didn't recommend further testing to firm up the DX. Or did he? Also, according to this article- this is inherited. Any other family members have symptoms.

If you do have a mild case, it gives a reason for your symptoms and might actually point towards a more effective treatment plan now...and in the future.

My family members and I have also had the testing for EDS IV, and we also share some of these symptoms. Interesting. I've never heard of this before.

Let us know what else you find out.

Hugs-

Julie

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Guest tearose

Well Angela,

Do we celebrate that you know more or fret that it is another confirmed issue?

I want to say we should rejoice in the fact that you once again have "valid" stamped on your GI issue and hopefully will get one step closer to another treatment to bring you strength again.

Can you supplement with Carnitine to improve GI function?

This is a timely topic for me.., I am doing my "prep" right now for a 4pm colonoscopy and endoscopy! I will ask for a carnitine level next time I have blood work too.

Interestingly, I am up to 800mg per day of CoQ10 because of my sense that a Mito disorder is one of my issues. It is recommended that the Mito cocktail include carnitine but I only wanted to do one new thing at a time. I am working with my pcp on this. We never considered measuring my carnitine levels.

thank you for sharing this important information.

I hope it will offer you some peace and maybe additional carnitine will help.

best regards,

tearose

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It was odd that he didn't want to pursue further testing (MRI,etc) of this but more of less just said "keep it on the radar" and if things progress, come back to Mayo (ummmm yeah right! 16,000$ later) or go to Boston.

I am wondering why, since they already have my DNA sample from vascular eds testing, they don't just run the mito tests on it?

It is odd, almost like doctor's wait until things are REALLY in the crapper to REALLY investigate. that is a back seat approach in my book and serves no benefit to the patient as typically, if a patient is in the crapper, many therapy's and treatment's aren't as effective or aren't at all.

My hunch? I don't think I have the MNGIE thing. Symptoms of it sound pretty severe (mine are not) and there are some symptoms that I do not have (I do believe I have had a brain MRI a long time ago and there was nothing noted about loss of white matter)

the focus really seemed to be on the abnormal carnitine value, which then led him into the discussion of MNGIE based off of their findings on me of small bowel dysmotility, gastroparesis, diverticulosis (which is common in normal population but i've been told generally not before the age of 40), a "non-specific" patchy something or other on my feet neuropathy (which i guess with MNGIE, there are a lot of problems with the hands/feet/ re neuropathy), and a "droopy eye" that I have ............. kind of odd to classify or try to anyway all of this into ONE problem as MANY of the other issues I have don't seem to "fit" with MNGIE ......But he seemed to really focus on it, spent 30 minutes talking to me about it at 7 o'clock at night.

.... i AM very good friends with a pedi cardiologist and I filled him in on the above info and he said he sees patients with mito disease that have abnormal carnitine values and has seen other patients with abnormal carnitine values for other unknown reasons. he said abnormal carnitine can most definitely effect cardiac function but generally it presents as a cardiomyopathy and/or secondary arrrhythmia's ....

i asked him about supplement for GI function and he said a lot of people do try it, but he said the majority of supplements are excreted through the urine and generally aren't very effective because of it being excreted ...... my pedi cardio friend though has put patient's on carnitine who have abnormal values of carnitine and has seen some of them rebound of cardiomyopathy's and arrhythmia issues ....

i would suggest those with dysmotility to ask your doctor about getting your carnitine levels checked ..... it would be interesting to compare notes ...... who knows, maybe WE will crack the case!

tearose, good luck with the prep. blah!!! i feel your pain! remember THAT all too well, X3!! keep us posted with what they find out ....

Julie, I am the lucky anomaly in my family!! no one else has ANY of this .... closest thing was my mom's mom and she had significant GI disturbance but they blamed it all on her lupus (this was a good 26 years ago though and i'm sure they didn't know much about mito disease then because they don't even know a lot about them TODAY! LOL)....

obviously this isn't black and white! hahaha! if all this was, none of us would be on this forum! ;o)

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interesting info I found on carnitine :

Carnitine deficiency:

There are two types of carnitine deficiency, primary and secondary. In both primary and secondary carnintine deficiencies, increased dietary intake and supplements of carnitine can be beneficial. Although the exact mechanism is unknown, it is thought that flooding the body with high concentrations of carnitine assures that some carnitine are able to get into the cells. Carnitine deficiency occurs as a primary genetic defect of carnitine transport and secondary to a variety of genetic and acquired disorders. A person with primary carnitine deficiency has very low levels of carnitine in the blood due to a faulty carnitine transporter which prevents carnitine from getting into the cells where it is needed. The secondary form of carntine deficiency can arise secondary to metalobic disorders in the mitochondria. Blockage of metabolic pathways in the mitochondria leads to a build-up of acyl compounds. Infants are particularly susceptible to carnitine depletion, because the demands of tissue accretion associated with rapid growth exceed the ability of the infant to synthesize carnitine.

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Hey Angela, this sounds a lot like my path. Bad GI symtops early on, slow motility 120 hours. Then a possitive TTT and lastly a possitive muscle biopsy (the short version of the past 5 years). You should look to have either a mitochondrial genome test ( mine couldn't find a known varient ) or have a muscle biopsy. Just to guess on mito is leaving much open to worry about....like MNGIE. You're close to Boston, there's good mito testing there, keep pushing for answers. Good luck and keep us updated on how you're doing.

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Hey Angela, this sounds a lot like my path. Bad GI symtops early on, slow motility 120 hours. Then a possitive TTT and lastly a possitive muscle biopsy (the short version of the past 5 years). You should look to have either a mitochondrial genome test ( mine couldn't find a known varient ) or have a muscle biopsy. Just to guess on mito is leaving much open to worry about....like MNGIE. You're close to Boston, there's good mito testing there, keep pushing for answers. Good luck and keep us updated on how you're doing.

Hey todd, thanks for your response .... yeah i have gastroparesis with a transit of 180 hours and at four hours, still had 40% hanging out....mayo just recently diagnosed small bowel dysmotility, i have had some problems over the past few months with swallowing (not like the feeling you get in your esophagus like in your chest area where something feels "stuck" but more up at the back of my throat/first portion of the esophagus)....i haven't had any test to determine whether i have esophageal motility problems, have you?

what was your muscle biopsy for? part of mito testing?

have you been diagnosed with mito disease?

i am already in correspondence with a doc in boston so i am hoping to get more conclusive, definitive answers even though i know mito (if that is the issue) doesn't have good treatment options.......

i doubt i have MNGIE, some of it just doesn't fit ....i HOPE i don't have it, poor prognosis....

thanks for your response to this post ....

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another interesting read:

Q: Could you please provide some information about dysautonomia?

A:

In regards to dysautonomia - some mito patients seem to have several symptoms where dysautonomia has been invoked as a possible etiology - but not proven by autonomic testing. The symptom that might be most linked to dysautonomia would be dysmotility since the gut is controlled by the autonomic nervous system. The dilemma with this explanation is that the gut also has its own internal nervous system and some of the motility issues may be due to patches of abnormal motility due to a true cellular energy deficiency. The explanation for cardiac arrythmias may be similar - not due to abnormal signals from autonomic controls in the brain stem but rather aberrant electrical generation/conduction in energy-poor areas.

Other symptoms that have not been explained include:

1) Sensitivity to heat in that they 'wilt' in hot weather -> I do not think we know if there is an inability to regulate body temperature or sweat. Dehydration may play a role in symptom exacerbation.

2) Blue lips/extremities -> typically not causing discomfort. I have not seen this but have had parents report it. There are biopsy proven reports of neuropathy in mito patients - but I do not know if this would explain episodic color changes in the patients (especially with rapid resolution of the symptom).

3) Postural tachycardia or orthostatic/positional hypotension -> this is a common complaint in many individuals (some with abnormal autonomic testing on the tilt-table) - not just mitochondrial patients and we do not know if this is more common in DNA or biopsy proven mito patients.

Answered by: Sumit Parikh, MD

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About two years ago, one of my son's doctors thought he might have MNGIE, so we had the genetic tests done. I think my son's blood was sent to the University of Cincinnati for testing. There are only a few labs that do the MNGIE test, but any good local lab can draw the blood in consultation with one of the testing labs and send the blood off for testing. So if you want to resolve the MNGIE issue, you probably could have the test done without leaving home (as long as you have a good doctor/lab who will work with one of the specialty labs). Warning: I think we had to pay specially for the test--it's not a "recognized" diagnostic test so our insurance (which is usually very good) didn't cover it. The cost was somewhere between $400 and $1000. We've had a few of these special tests done, and I forget exactly where the MNGIE fell on that spectrum.

My son doesn't have MNGIE (we were pleased about that!) but he does continue to have an array of serious gastrointestinal, neurological, and endocrine issues--like so many people here. My sense is that doctors ignored autonomic disorders for a long time and happened to name just a few variants of them. Now they struggle to diagnose and treat all of the patients who don't fit within those particular categories yet have equally serious symptoms. It's frustrating to have a disease that's so poorly understood! I wish you luck with your ongoing diagnoses, Debby

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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

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angela- i would have the blood test for mngie just to rule it out. im surprised the dr didnt offer further testing as he 'screen' for mito bought back the low carnitine results.

megan- that is excellent news! did they find what type of mito you have? & did you test low in carnitine before you started supplementing it?

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spaceorca - did your son have any abrnormal finding in the baseline screen (like with carnitine or lactic acid levels)?

megan - thanks so much for your response. i wouldnt second ana's question to you -- did you have the carnitine levels checked before going through DNA testing? did they check for other types of mito ? is carnitine cheap or an expensive purchase? did you have the muscle biopsy? if so, what did they conclude? is that done under local or general anesthesia? (sorry for bombarding you with so many questions!!) ......i am so happy to hear the carnitine supplement has helped you. i most certainly will be looking into this as fatigue has also been a huge issue for me (i'd love to start jogging!) .......

Interesting about what Dr.Cohen said. I was told by Dr.Low and another neuro at mayo that people with POTS don't commonly have dysmotility findings when they screen them - a lot of people here seem to have problems with dysmotility so it just makes me wonder if these doctor's are really barking up the wrong tree with us potsies or if they are just really misinformed (ie: they haven't screened enough POTS patient's to know just HOW MANY pots patients present with dysmotility issues) .......

I like the conversation i posted here between a patient and doctor (Q and A) .......quote, "some mito patients seem to have several symptoms where dysautonomia has been invoked as a possible etiology - but not proven by autonomic testing. The symptom that might be most linked to dysautonomia would be dysmotility since the gut is controlled by the autonomic nervous system. The dilemma with this explanation is that the gut also has its own internal nervous system and some of the motility issues may be due to patches of abnormal motility due to a true cellular energy deficiency" ---

.....so i guess it really does make you wonder if motility issues are a separate entity and not truly related to a primary dysautonomia but more of a mito or a "cellular energy decifiency" and if so, would/does the heart (tachy,etc) become effected just as much.....

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This is all interesting to me because when I went for my cardiac ablation they ran all kinds of tests on me and the only thing that was abnormal was my amino acid gap. Which the endocrinologist that I saw later stated indicated I was malnourished. I wondered about just taking a protein supplement. I have been trying to eat foods that contain all the amino acids like bananas but I don't know that it's enough.

I think it would make sense that the heart would start beating fast if the cells were screaming I need more energy or oxygen and maybe why I get that sensation that I'm suffocating and just the fatigue.

I haven't known what to pursue as far as treatment but it seems that this might be a way to go for me when I get around to it and maybe could even pursue some of the follow up on blood levels of the amino acids with my family doctor in the meanwhile. And get the go ahead to start supplementing where I am low?

I was happy to see your post Megan of encouragement! I had been reading this last night and was feeling as if maybe a little light was going on for me and then felt very discouraged before I went to bed.

A friend happened to look it up and share with me that Vitamin C is required for the synthesis of carnitine so those of us that felt improvement taking it-perhaps that is why?

lieze

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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.

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spaceorca - did your son have any abrnormal finding in the baseline screen (like with carnitine or lactic acid levels)?

The doctor tested lactic acid at the same time he ordered the MNGIE genetic test, and the lactic acid turned out normal. I don't think Dan's carnitine has ever been tested. The main reason the doctor focused on MNGIE, I think, is that Dan has very severe GI problems. That, combined with neurological and endocrine issues, suggested the possibility of MNGIE.

The odd thing about DNA testing for MNGIE and other diseases is that, as I understand it, the analysts look only for mutations that are already known. In other words, they don't look at a gene and say "oh, this is normal/abnormal." Instead, they look specifically for known mutations. If they find a known mutation, then there's a high probability that you have the same disease as the other people with that mutation. But a patient could have the same disease (but stemming from a different mutation) or a similar disease (again, stemming from a somewhat different mutation) and the test wouldn't reveal that. There is a new approach to DNA testing, I think, that will begin to look more wholistically at genes and say "you have a mutation here, which may explain why you have this problem with X." Like so much else in medicine (especially when it comes to dysautonomia), we know less than we often think! Debby

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Blue lips/extremities -> typically not causing discomfort. I have not seen this but have had parents report it. There are biopsy proven reports of neuropathy in mito patients - but I do not know if this would explain episodic color changes in the patients (especially with rapid resolution of the symptom).

Bluing can be just from extreme vasoconstriction (that is overstimulation of the alpha receptors either from over active nerve firing or denervation hypersensitivity) or from reduced neuronal nitric oxide reducing blood flow to the skin.

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I'm a little late getting to this topic, but thought I'd add in a little of my experience anyway. I have been through some of the mito testing. I've had all of the bloodwork done, which showed some minor abnormalities, but nothing diagnostic. I've also had a skin biopsy for dna testing.

Dr. Cohen is my mito doctor. He believes that I do have mito, but he said that we may or may not be able to find out exactly what kind. Because I have dysautonomia he didn't recommend a muscle biopsy for me. He said that the skin biopsies had been more helpful, in his experience, for those with dysautonomia because it is their nerves that are the most affected, not their muscles. He had a skin biopsy taken from my armpit (where there is a higher concentration of nerves), and ran a couple of dna tests.

MNGIE was the one specific mito disorder that Dr. Cohen suspected I had (because of my gastroparesis and dysmotility), but that dna test came back negative for me.

He still has my dna in storage, and when there are better diagnostic tests available he wants to run more tests for me. I might do a muscle biopsy at some point, but not right now. Since I saw Dr. Cohen last I have heard of two people with dysautonomia who were diagnosed with mito via a muscle biopsy. So perhaps it would show something for me as well.

There have been a few mitochondrial disease discussions in the past. You might find some extra information in a search.

Rachel

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I was so surprised to read this post...I was just told by a metabolic geneticist that she suspects I have some kind of mitochondrial disorder, particularly MNGIE, and I am attempting to get genetic testing done, if insurance will cooperate...

I hope things go well for you...keep us updated!

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Angela - I have many similarities to what you're experiencing:

suspected MNGIE (I dont' think I have it either)

low carnitine levels

GI dysmotility

periferal neuropathy

ptosis (droopy eyes)

I take a compounded supplement that includes carnitine as Carnitor and it works well but it all breaks down when my dysmotility acts up (which is often). When that happens I can't take pills by mouth so the whole thing breaks down.

I also have elevated pyruvic acid levels but not lactic acid levels (they generally consider elevated levels of both to indicate mito - so I have them all confused).

Megan, your comment of 'energy conservation' so hits home to me. I'm recently been really confused as to what to do with exercise and pushing myself in general. I hear so many people with dysautonomia say exercise, even when extremely difficult, brought about improvements in energy. But since mito is also suspected, I can lapse into days in bed after the most minor exercise (we're talking 20 minutes on the treadmill - walking!).

I was doing really well January - March but April arrived and with it Spring allergies and I'm completely wiped out. I know there are others on DINET that live in the Pacific Northwest (Seattle) like I do and since it's such a high growth area there is plenty of pollen to go around. I now consider myself lucky if I can survive the day sitting upright - I consider that an accomplishment.

I am working with Dr. Fran Kendall, who is a mito expert and has a virtual practice (great for those of us who can't travel). Recently Dr. Kendall reached out to me and asked if I wanted to conduct mtDNA testing. I've done the organic acids, amino acids, etc testing that can be done on urine and blood but drew a line at muscle biopsy. I know it's the 'gold standard' in mito dx but I also know that that kind of body invasion would set me back by a lot. I'm tempted to go through with the mtDNA testing but I'm not sure exactly what can be learned by this testing to warrant it's $1100 out of pocket price tag.

I continue to be astounded by how many similarities we all share and hold out hope that we're on the verge of further discoveries that will bring us all some healing.

-Waterbaby

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I'm tempted to go through with the mtDNA testing but I'm not sure exactly what can be learned by this testing to warrant it's $1100 out of pocket price tag.

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.

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Just wanted to add a few thoughts on this subject. I have a confirmed Mito diagnosis and have learned a lot the last few months.

1-Do check with your insurance. Most insurance companies will pay as long as the symptoms you have indicate there is a suspicion of the disease.

2-Check with your local Muscular dystrophy office--Mitochondrial disease is under the umbrella of MDA diseases. If you can be tested by a MDA Dr familiar with muscle biopsies and testing then at least a portion of the diagnostic work up is covered by MDA grants.

3-Just FYI--blood or saliva testing for Mito dna testing is not as thorough or as conclusive and muscle biopsy. If you really want the best chance at an answer, go with the muscle biopsy.

4-The muscle biopsy can be rough for a couple of days and I guess it depends on where you are having it done. Mine was done by a physician who does several muscle biopsies a week and knows how to properly process the specimens etc. Mine was done using local; I did not have general anesthesia. In my case, the discomfort of the biopsy was well worth the answers I got and wasn't nearly as bad as most people made it out to be.

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