Has anyone undergone genetic testing for MELAS? It's something my doc wants to rule out, and I wasn't too concerned about it, because I've been thinking MS all this time, and now it just hangs over my head like the sword of Damacles. I have had so many of the symptoms -- seizures, hearing loss, migraines and stuff, but not the rapid deterioration that I think is a hallmark clue to MELAS.
Although it is genetic, most families have just one member that has a full-blown case of it. Others can just have migraines (like my brothers?). You can see I'm going a wee bonkers.
I wish the doc had said more to me about it when he handed me the script for the testing, like -- Yes, it's fatal, but I really don't think you have it. Just want to be sure to rule it out. Oy.
WOW...this seems a little extreme to me, don't you think so too? When I read about it, it sounds pretty bad but I would think that you would have more stroke like symptoms and as you said you haven't had the rapid deterioration that seems to be a huge part of this disorder. I personally had never heard of it until now but I honestly don't think it's something you need to get too worked up about honey...seems like he may be running out of ideas so he grasps at whatever is handy like a lot of them do. If you are really concerned and this is causing you a whole lot of stress...perhaps another call to the dr. to ask more questions about it might be in line...if for nothing more than your own piece of mind? Let us know what the outcome is though and I will be thinking of you honey!
I read about this when you posted all the testing you were being sent for; it is a bit spooky. I got the impression that your doc was just trying to rule out everything he could think of that was anywhere close to what you've been experiencing. I also wondered if he had to google to find that one, lol!
Please take a deep breath, and try to just go on with life and all until all the results are back. When I was a kid, we had this medical encyclopedia. I was a voracious reader, and I would read about terrible diseases and find that I had a lot of the symptoms. I found it fascinating and would talk about some of the stuff until my siblings and dad teased me mercilessly (I think my mom read it and thought she was dying, too). I went back to science fiction, historical romances, and bicycle riding, not to mention picking blackberries.
I know you're all grown up and truly have some nasty symptoms, and waiting is frustrating and leaves you lots of time to ponder and worry. Reminds me of a really bad poem I wrote a long long time ago:
Worrying about the monster under the bed
Doesn't get rid of the monster
It just makes it bigger and stronger instead.
All that reading; you would think I would have more literary skills. :o)
All this babbling, what I'm really trying to say is to try to let go of worrying too much. Stressing is bad for your health, and I would prefer you as healthy as possible.
Yes, I know in my head all you all say is true. I tend not to worry much about these things. It just seems like the doc would not make me go through this test -- it's a bit out of the ordinary -- I just called the nurse, and she said the come to your house and do the testing, and it may not be covered by insurance -- she'll have to check -- if he didn't think it may have some small merit.
In my heart of hearts, I've thought MS all along. But I have had no knowledge of all the possibilities. Once I work this through and out, I know I'll be fine. Just want to hear all of you say how ridiculous I'm being. Thanks!
Well, I called the testing facility at the recommendation of my doc's assistant, and they said that my insurance company is not 'in network,' as I knew they would not be. We are in a different state. The cost is $1870, and they said to be sure I ask if my insurance has 'exclusions for genetic testing.'
I spoke to my husband about it, and he said it's up to me if I want to have it done, but that my internist warned us that d want to do all crazy kinds of testing, and to hold off for at least 6 months (this was last May). Hmmmmm.
I think I will call my insurance company and at least check on the co-pay and see if they cover genetic testing, out of curiosity. And then I will likely drop it for a while.
I feel awful. My fatigue and dizziness are worse, but I don't think there is anything I can do about it right now.
yes. i had sccreening for melas and a host long list many other genetic tests.
In my heart (and along my movement disorder doctor) feel theree is herediatry componant to my illness, althoguh I was once dx' d with msa-c because of sx's and scans, but seems i may not anyways (wonderful!)
I can be very wrong, but, i do not htink one blood dna test is to rult in/out the mito diseases.
It has been alot of years , and i have forgot alot what i have learned about it.
i jpined a mito group anad met a one lady who had twins with a form of miito (i can not rememebr what one) Whiloe she knew something was not right with herself, it was only when children had it she was dx's. What i meanis...IF... you had a mito disease progression and decline is indivdial (sound familiar ha!)
be well , keeep faith, amo
p.s the ins i had then covered ALL my genetic testing (many!!)
Thanks! Yes, you're right about the blood test. That would only be an initial test to see if further testing would be warranted, apparently. If they found a reason to do more testing after the blood tests (there are about 12 blood tests they do for ONLY MELAS), then I would get a muscle biopsy done. If I understand correctly..... It seems the muscle fibers have a certain appearance in MELAS and certain mitochondrial diseases.
There sure are a lot of genetic tests they perform. When they put me on hold, I was able to hear a grocery list of ALL the things I could check off my list -- the diseases I could wipe off my slate. I am astounded at the really horrific diseases that exist. I don't know what msa-c is. What the heck is it? I hope you don't have it, whatever it is!!
The thing I think that got me worrying about the MELAS (which I'm much calmer about now) is the hearing loss and the exercise intolerance. These don't seem to be as prevalent in MS, but are very big clues in MELAS. Now, looking at the whole picture, I'm not concerned. I did start with what seemed like seizures and myoclonus, but none of the rest really fits. I really think that even if this is not MS, it most certainly is not MELAS.
I'm glad your insurance covered your testing. I get so lost here. Where exactly are you in terms of diagnosis? I thought you were diagnosed with MS.... I get so mixed up!
I hope you're feeling well. Thanks so much for sharing the info with me!
a short expalination. Msa-c (multipole system atrophy) can alot of the same sx's as ms. It is discribled as a parkinsons plus disease (but is not parknisons) or one of the Ataxia's . Autonomic sx's are previlant (OH and bladder being mostly). But it can be confused with OPCA or sometimes Sca until it progresses long enough.
While i do have some leeions that my ms neuro says are ms. my cerebellum is atrophied. They discoved a problem in one mri thay would be connsistan in msa,My movement disorder specialist and her boss both caame in the room after readinng my mri. and showing us why they belived it wwas MSA ,but to have them tell me 10-12 yrs was hard. I even waiiteed my next 6 mo. appt they reconfirmed til i told any family(expect huby)
but next scan was not so distiinguished (but the part of the mri wasn't even done that time, soo who really knows). I have not progressed fast enoguh so my doctor nixed that dx's....fine by me!!!!
It can be very difficult dx'ing some ilnesses, and until the day there are black and white tests for ALL (yes it saddns me too how many!) these, they do the best they know.
a HUGE IF....they got to any point they want a muscle biopsy for you, make sure it is freash NOT frozen specimen (and few locations are set for that)
I din't mea n to ramble, sooroy.
It is such a craaazy mixed up place this neurological world!!!
I am sorory you are so confussed, it is not easy.
hang tough, amo
I think that having the MELAS genetic testing would be a good thing to have done. Althought it is pretty rare for some one to have MELAS I think that it would ease your mind to have the test done even if it costs almost 2000$. I am wondering if when you had these seizure type episodes previously did you have brain EEG and MRI's done at that time? If so, were they normal? I think that before I had the MELAS genetic testing done I would want to have my whole CNS imaged in a 3T MRI machine with contrast to see if there were any MS type demylinated lesions in the CNS. Whereas, if you has MELAS I would think that any abnormal lesions on the MRIs would appear only in the brain and may appear different from MS type lesions? I am guessing that the brain lesions from a stroke type episode would be more diffuse then MS lesions and you should see this on MRI? Also, I think I would prefer to get my lactic acid levels measured and an EMG followed by muscle biopsy done before I spend the money on the genetic testing. These test would hopefully point you in the correct direction. You should be able to do a simple blood assay to measure the amount of lactic acid in the blood as well as do a lumbar puncture to measure the lactic acid in the CSF. Additionally, having the EMG test my may show a significant area of weakness in a specific muscle group and then give the doctor a general location to take a sampling of the muscle tissue for the biopsy. If you had MELAS the biospy should show ragged red muscle fibers provided the muscle biopsy was taken from the correct location. If the doctor was suspecting stroke-like episodes due to MELAS you would think that he would also order brain MRI with contrast, followed by cerebral angiography and electroencephalogram (EEG) to detect any brain abnormalities secondary to altered/lack of blood flow in the brain. Has he done these test yet?
Is that DR. Watson, I presume? WOW! You know an awful lot about everything! Thanks for your response!
I know you can't possibly know my history. I have recently had MRIs done with and without contrast of all my brain and spine. After my last episode that landed me in the hospital in May, I had spinal fluid drawn, as well, and it was a comprehensive panel. But I would have to look back to see if lactic acid was tested. I'm not sure if this is protocol, but it sounds like you would know!
Way back when, as I started with odd symptoms, I had a first EEG done, and it showed I was having absence seizures, a few every five minutes, which I certainly was not. A 24 hour repeated test showed the same. The only explanation was that I had 'scarring' that did not show up on MRI yet. Since then, my EEGs have been perfectly normal, as have ALL my tests, except for elevated protein in LP, very low Vitamin D, and Human Growth Hormone deficiency as opposed to bovine hormone deficiency, I suppose.....
Yes, my doc has ordered an angiogram. I didn't know it could be related to the MELAS. I thought he was ruling out basilar artery vasculitis stuff on its own. Or appeasing me.
I have also had normal MRA/MRVs recently. What do you think, Doc? Just kidding...
You do know VERY much about this. Too much. What's up, Doc? How do you come to know so much about such a rare spectrum of diseases?
Wow, I thought I was confused before, but now I am really confused.
If there is any way that your insurance company can pay for part of this genetic testing, I would have it done. If for no other reason than to rule something else OUT. It would be over and done with and the doctor's would concentrate on your symptoms, rather than some off chance genetic problem. I think the test would give you some peace of mind, in the long run. Scary? You bet. But alot of things in life can be terrifying. We have to meet them head-on sometimes. That's the only way.
I pray and pray that your doctor's can get to the bottom of things and soon. it's awful to be experiencing all these symptoms, day in and day out and not have answers. I would be pulling my hair out. No wonder you suffer from such fatigue. You are overloaded.
Let us know what you decide on the testing. You know that we will be beside you in spirit, every step of the way.
I love you cyber sister...I really, really do and I CARE..
Thanks for the complement. Unfortunately, I feel as if I only know a little of everything........not a lot about any one thing............just tons of useless knowledge that hasn't gotten me anywhere in life really. I've always been an avid reader so I guess I just pick up knowledge quickly. I really don't know much about MELAS however I do have general interest in neurology and I've been reading a lot about various diseases as I've had to go through a lot of testing over the last several months because my health has been rather poor. I've had 3 severe episodes of neurological symptoms since Dec of '07' and I think I may have MS. You can read some of what I've been going through if you take some time to read my posts. I've been to 13 doctor's over the last several years trying to get diagnosed. I've learned to question everything the doctor orders, perscribes, or recommends.........you've got to keep them on their toes or they will just dismiss your medical complaints or treat you like your stupid!
The MRA/MRV as well as the cerebral angiogram tests will give your doctor some clue as to the health of the arteries and veins in your head/neck and could detect basilar artery vasculitis or basilar artery occulsion which could happen from stroke. Is basilar artery vasculitis associated with absence seizures?
As for my story, well I'm not a doctor yet. I am actually working on a Ph.D. in analytical chemistry at Purdue University but my graduation has been slowed because I've experienced all these major health problems while in graduate school. My third relapse started in Aug and lasted for 8 weeks. I was so weak that I could bearly walk, severe balance impairment, loss of sensation from the waist down, couldn't even sit up straight or hold my head steady, dropping eyelids, severe muscle spasms etc. My research involves an area of research called proteomics which is sort of an off shoot of the human genome project. I am trying to design analytical tests to detect biomarkers in human blood from cancer patients to hopefully help them get diagnosed early. To do this we use liquid chromatrography, mass spectrometry, and various antibodies techniques. Honestly, if my health was better I would like to go to medical school after I finish my Ph.D. next year but I doubt that this will be possible if my health status does not improve soon. As a scientist I'm just sort of stuck in a lab and don't get to interact with real people. My dream job is to be a medical researcher/professor and an M.D. that way I could spend half my time treating patients and the other half doing meaningful research that would hopfully improve my patients lives. But, nobody wants to go to a sick doctor, right?
Good luck to you........it really seems like your doctor is really investigating hard to get you accurately diagnosed which is a very, very good thing!
Well, I finally got around to looking up MELAS. I had never heard of it. As soon as I read the description I saw why it had come to mind. Yes, you do have several of the things it causes and I also thought of the hearing loss, the severe exercise intolerance, the stroke-like episodes that you have had. All through the reading I was aware that this can appear in MS, too. But, given the complete lack of positives on MS testing, you do need to look at other possibilities. Not testing and not finding the answers does not make something not true.
The age of onset and the progress makes you stand out from the general course of MELAS. And, is there any family history of similar things? I may have misread, but MELAS does have one particular genetic test that is most common, doesn't it?
Dawn - Wow, what a treasure trove we have in you! We have other PhD's and other grad students her in the forum so you are in good company. PhD's know their subjects in so much greater depth. We are blessed to have your smarts and knowledge here. Thank you. I am terribly sorry that what you are going through seems to make you feel that your will not be able to complete your dreams. I really hope that you can find answers and learn that those dreams will still be open to you.
Many doctors have medical issues of their own and this often gives them insight that other docs don't have. I don't think patients would shy away at all from a doc with disabilities....speaking from experience.
Also, when you hear me talking nonsense to someone - jump in and tell the real story. It's all about the good information here, not the egos.
Hi there. Im new to the online thing but happen to have a lot of experience with melas. My family is plagued by it as well.it run only through the women and can effect different people different ways. And no it is not always fatal. Most of the online info is based on sick children with the syndrome. Adult onset in very rare and they cannot predict your prognosis. It depends on what age it appears and you percentage of the mutated mitochondria. There r 2different types of melas each one having the own unique signature. Because the mitochondria give the energy to the cells to make them work correctly. How any person will responde is up to their good vrs bad or mutated mitochondria. If u started life with a small about of mutated mitochondria you may never develope the syndrome or you may not see symptoms until later in like. The later,the better.my mother, sister and i all have the syndrome.as well as i have ms. Yeah for me. What r the odds eh? Anyway don't let melas scare u stay healthy take the vitamin cocktails, get lost of rest. Don't let you body get worn down. This causes melas episodes. Know your body and know when to rest. Take extra caution when sick with cold or flu.YOUR BODY NEEDS THE GOOD mitochondria to fight illness. If there isn't enough to go around some cells don't work properly and symptoms.will occur.
WOW, Jilly! You sure do know a lot about MELAS. I'm sorry you know so much from your own experience.
As it turned out, my doc never saw enough evidence to actually do the testing, and I am now diagnosed with simply, "demyelinating disease." It sounds like you have SO much going on, with both the MELAS and MS. Have you posted here before? I am actually back from a long absence.
If you haven't been here before, Welcome!! You'll find this a very supportive, caring, informative community. If you have posted, It's great to hear from you!
Please let us know more about you and your journey if you've not already. Thanks so much for your great information and please take good care of yourself!!
I don't know if you will receive this as your comment was so long ago.
I have had fibromyalgia for the last ten years. Started with stroke-like symptoms in my head that reflexed down onto my face. My mobility was wiped out from this one episode. I recovered and gained my gait back but within a few months I experienced extreme fatigue and then the overwhelming muscle pain.
Having a background in energy medicine and auriculotherapy, I can generally get my back to feeling somewhat okay. I have not been able to work full-time for awhile now. When I walk, I get the dizzy spells and overwhelming muscle fatigue comes on pretty quick.
I just had a lactic acid test done that came out negative - does that mean that I can rule out MELAS or is there another test that can show any mitochondria dysfunction?
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