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Back from Mayo already-- very bummed!


DawnA
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Hi I am back from Mayo. I only stayed there one day. I saw the neurologist and he offered to put me through all of the neurological testing that I have already done. His comment was that they would probably find some changes, but nothing that would aid furthur in my diagnosis. In order to do autonomic testing, he wanted me off of my meds for two weeks. I do not feel up to this, at the moment, so I declined. However, I can always go back at a later date.

Dr Whiteman the geneticist does not think I have a primary mitochodrial disease. I have mitochondrial dysfunction secondary to another disease process. My mito labs all came back normal. However my vitamin levels all came back high showing good nutrition, but creatine, Q10 and thiamine where low. They all have to do with energy metabolism. He thought this was interesting and said it was not due to nutrition. My ANA was 5x's normal and he wants me to see a rheaumatoid DR. The waiting list at Mayo is long so I will see one at home.

At first I was in good spirits thinking the autoimune route is the way to go...maybe I could find some treatment and it could even go into remission. I did not want to have to worry about my children having mito any longer. Then after research and hashing through things with some mito friends I realize I have very few symptoms of an autoimmune disease. I do not know how my very abnormal gait and muscle issues could be caused by an autoimmune disease.

What I wish is that mitochondrial myopathy could be excluded from my possible diagnosis, but it can not. Many mito patients have autoimmune diseases and I have learned that normal labs happen adult in the beggingin stages of mito, especially when I did not fast before my labs or I was doing very well.

The Dr at Mayo told me not to take any supplements at this time because it could cloud my diagnosis. But there are no plan to return back to see him. I have decided to take the supplements and do whatever I can to feel better. Iam sick of looking and I want to start living. I just feel so discouraged at this point because I wanted some answers for my daughters and future grandchildren. My family history points too much to mito. I am hoping to put this all behind me and only look forward without worry. I hope I can do that. I am not feeling so strong right now

Sorry for babbling.

Dawn Anich

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Sorry to hear that you didn't really come away with any more clarity than what you went there with. Nina

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Hi Dawn,

I'm sorry to hear that you're bummed. ;)

Good for you for sticking with your supplements. Especially if you're not going back to see that doctor! When I quit taking my supplements before a medical test, my body felt sooo horrible. So, I'm glad that you're not taking that chance. :)

I wish you the best. And remember, you can always contact my mom about going further into the nutritional avenue if you ever feel you've exhausted your options medically.

Love always,

Kristin :)

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Thanks Nina, kristin and Stephane for the replies.

Steph, I am sorry taht you are going through the same type of thing. I am very familiar with dr Cohen. You are very lucky to have seen him. I wish he was able to give you a more definite answer. I did not realize CMT can cause autonomic problems.

Yes I have had a muscle biopsy, but mine was not done fresh like Clevaland Clinic does. Fresh biopsies are more accurate. I know of people having negative frozen biopsies and a positive fresh one. A fresh biopsy is my next route, if things progress.

I just do not think autoimmune disease could possibly be the answer to my gait and muscle problems.

I hope you have a good appointment with the adult neuro. I hope you are not dismissed. It is not a good feeling.

I feel I have more questions now than I had before. mayo is so good at sending all of your results. I am looking forward to reading what the Drs had to say.I am also waiting on my skin biopsy results.

Best Wishes,

Dawn A

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Yes we do desearve answers. If that Dr had a medical issue, I bet he would not give up on answers!!!!!! Some Drs do not like to be challanged.

I am low on Co Q-10, creatine and thiamine all part of the mito cocktail. I was told by the genetisist not to take any supplements, because it would cloud my diagnostic picture. Well this picture is already very cloudy. It does not seem like I will be getting answers very soon. I am planning on taking these supplements along with carniator. I have a three month prescription. Hopefully my Dr will renew it when it runs out. I am soo ready to feel better and have a life. I feel like a bear in a cave.

As far as my children go they are both very active. Both have been in competative gymnastics. My oldest had to drop out due to POTS, migraines and overall feeling poor. She has felt much better with less activity. She still is active, but not in any sports. My youngest continues, but has a lot aches and pains. She is also complaining about her Crohns symptoms coming back. I on the other hand was at one time a very active person. Physical activity makes me more symptomatic. Esp with my gait and muscle weakness,cramps and pain. That is were the mito comes in. Why can't I exercise?

I am working very hard on finding that fine line. I am trying to stay active as possible, but that seems to be minimal. Physical activity makes me very ill. But at this point I am ready to push myself agian and see if it puts me in the hospital like before. It sure did not take much. I am always trying to avoid a major crash so I can maintain my family. But I am ready to push myself again and see what happens. Anyways my house could use some major cleaning and painting.

It feels good to talk through this. I am feeling much better emotionally than I did earlier today. Keep us posted on your appointment.

Dawn

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Hi,

I am sorry you went to Mayo for not much. Since I don't know if I have a mito disorder or not I follow the mito diet and Ido better. I also take Carnitor which helps a lot with the muscle weakness. I would not be able to function without my supplements either. I know this is a personal decision but I have tried to go without my vitamins and I get really sick.

Ernie

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Hi Ernie, I think the mito supplements would benifit many of us with fatique problems. I am looking forward to taking mine. I am glad you do not have to wait so long for your EMG. Maybe things wiol speed up for you once they start to find things.

Steph I think we keep posting at the same time. Your problems sound very interesting. Don't you hate being interesting!! The body is a very complex thing. YIt sounds like you may be displaying a different version of CMT??? Is this what they think? Are there any geneticists interested in your case?

I am sorry that you are having problems with your biopsy site. Mine is a little sensitive, but no nerve damage...I had a PA do mine. Yet my insurance was charged for a surgeon. Funny how that works. The surgeon walked into the room for about 30 seconds.

As far as frozen muscle biopsy goes it is divided and

is it is flash frozen. A fresh piece was looked at in the lab and it was decided where and what it should be sent for. Mitochondrial respiratory chain is best analyzed with a fresh piece. Some complexes do not show up on a frozen piece. This is controversial, but the main mito Drs believe fresh is more reliable. Only a handfull of canter are able to give a fresh muscle biopsy.

They are still so limited in analyszing these diseases, but are making great strides. I hate having such a mysterious illness. Like me I am sure you would like some validation and be able to give a name to what is ailing you.

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Dawn,

I'm so sorry that you're having trouble getting everything figured out. I think some of us are just so baffling from a medical standpoint that it's hard for the doctors to put in enough time to thoroughly understand us on an individual basis, and that's really what's necessary in a complex illness.

I think you should take everything so far as good news in that you haven't been diagnosed. I am sure it's better to NOT have a mito disorder than to have one. Maybe you will be diagnosed later, but maybe not. Maybe this is a temporary state. Who knows?

As for the autoimmune stuff, I also am going through some tests in that area. Muscle wasting/weakness and positive ANAs are pretty common among autoimmune disease sufferers. I think the wasting is less common than weakness, but when you have a lot of inflammation in your body, strange things happen, and the hormone surges that precipitate autoimmune flareups may have some sort of link to the muscle wasting. I would go to see a rheumatologist and have this area explored, just to be safe. A high ANA can occur in a healthy person, but the higher it is, the more likely it is to be related to illness.

Good luck, Dawn, and keep us posted. Try to relax and know that you've done everything possible to help yourself and your children/grandchildren.

Amy

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Guest tearose

Hi Dawn,

I'm a bit slow in responding due to an unusually higher level of hectic activity in my life! But I have been thinking about you!

So welcome back. Whether one day or one month, the pilgrimage to "MAYO" always makes us get excited and worked up with the hope and anticipation that we will be receiving some new revelation! I am sorry that you did not get to say "ah, the missing piece!". But please don't give up hope that day may still come...You have done the best you could with the current technology.

You can say to your children and grandchildren "I did my best".

I think you are wise to let this go for now and do what works to get you as you say "to start living again". When you need to revisit this research and testing, you will know to come off the supplements and medications and allow plenty of time for testing.

For now, for however long, enjoy every day and squeeze as much into and out of each day as you can! You are one of the "founding foremothers" that others will learn from!

best regard, tearose

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Thank you Amy and Tearose for the words of encouragement. I am so ready to take more of an alternative medicine approach to my healthcare. I am going to see the rheumatologist in March. I am not getting my hopes up for answers or treatmnt options. That way I will not be disappointed. Thanks again for the k.ind words. I need another nap! :)

Dawn

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Hi Steph! Iam glad that I looked at the posts today. Don't worry about the Q-sart test...it is painless. They attach probes to you with acytocoline and test sweat response. I think the Q-sart show whether you have neuropathy or not???

As far as the skin biopsy. That was painless also. I carried on a conversation with the person doing it. They numb you and take a piece of skin the size of the tip of a pencil eraser. They gave me two stiches to prevent infection. The only diconfort is it was a little itchey.

When it comes to labs for mito, repeat testing is necessary. A lab may be normal and then abnormal at a later date. I found out mito labs shoud be done fasting. I also have found out normal labs in an adult are common. I know of people with mito who commonly have normal labs.

It sounds like your neuro is on top of things for you. As far as DNA testing...they have not found most of the mito mutations. It is not likely you will be diagnosed with DNA testing.

If you are looking to see a metabolic genetist who is very good at treating mito patients let me know. He just opened up his practice to accept more adults with mito. I have several friends who see him.

The Dr at Mayo left my diagnosis pretty open. there is not enough evidence to support mito. I liked him ..he was very throurough and validated my problems. He is always open to have me come back or my Dr call himif something comes up. He also made a recommendation to my Dr on things to check if I end up in the ER or hospital.

If you are looking at pursuing this it is good to get in to a reputable mito Dr while they are still accepting adult patients. That is the hard part, not only is these disease very hard to diagnose...there are not any Drs out there. IT is too bad Dr Cohen was not able to keep you as a patient! I can't remember what did your biopsy at Clevaland clinc show? I hope i answered all of your questions.

Take Care,

Dawn A

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There are no specific symptoms for mito. IT is suspected when multiple systems are involved. The rule of thumb is "any age, any disease, any progression" Since it affects your cells it can cause any disease. The brain, heart and nervous system are often affected because they require so much energy. Mito patients are diverse showing a different complex of symptoms even in the same family.

Some common mito symptoms are:

CFS type symptoms

muscle pain and or weakness

easy muscle fatique

ptosis

autonomic problems

GI dysmotility

loss of hearing

cardiomyopathy

migraines

seizures

diabetes

any atypical disease

I hope this information helps. For more information go to http://www.umdf.org\

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Guest tearose

Dawn, I may be stretching here, but do you have any idea if acanthocytes are in the field of a mito disorder? They are spur shaped blood cells and I'm trying to find any link between them and /or mast cells and then I know it would connect to pots. thanks, tearose

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Hi Tearose...you are not stretching at all!!!! I looked up acanthocytosis. It stated that it can be associated with neuromuscular disease. It can also be related to hepatocelluar disorders...liver problems. live disease is associated with mito. Also, acanthocytosis is a form of anemia, which is metabolic. My answer to your question is YES!!!!

Mitochondria are not in our red blood cells, but a mitochondrial problem can affect red bloods cell...it is a dominoe affect. I will post on the mito forum and ask if anyone has acanthocytosis. Have they ruled out liver disease?

Dawn Anich

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Guest tearose

Hey, thanks Dawn!

I know my liver function was suppose to be normal...but the internist did say that when I get pains there I should RUN to get an MRCP to see if there is a liver/duct problem.

I'm so upside down right now, I just got so many test results back and my doc and I are trying to connect the dots so to speak. I'm waiting for his call, I'll mention to him that I'd like him to explain his opinion as to whether I may have a mito problem.

I'll look back now on your posts and threads for how to diagnose mito...if you can point it out to me I'd be so appreciative... :)

many thanks....tearose

PS: I also have a low white cell count right now

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Guest tearose

So now I see..

Oh, no, they will want a piece of my muscle?

Can't they do a DNA test? Is there a blood or saliva test yet?

Interesting side note: My sons both had a reaction to anesthesia, malignant hyperthermia, and I don't want them to have the muscle biopsy...I'm holding out for the blood test. The thing is, maybe this is also a "marker" of a mito disorder? The more we study the more we find.

I think there is just so much my little brain can process...please send in the pros!!!

tearose

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Steph, I am glad my info helped. For me the muscle biopsy was painful. My scar is pretty ugly too YUCK. I wish they could of picked a site above the pants line. I can say that I do not feel very patient myself either. I used to take so much pride in how much I could get done in one day and I really enjoyed physical activity. i am slowly changing my interests. It hard, because I never enjoyed activities that involved sitting around.

Tearose,

Your question regarding dx mito is very complex. Even the most renowned specialist have a hard time dx it and it is the specialist opinion. Their is no diagnostic criteria. Mito disease is very young in medicine. A normal DNA test does not rule it out, because their are so many complexes that have not been found. TThey can take a piece of your muscle a look for a DNA mutation that has not been discovered, but it is worse than finding a needle in a haysake. It is common to wait a year on results, which will probably be inconclusive.

With both sons with a history of malignant hyperthermia... mito should definitely be looked into. I know...this is so hard to bite off and chew now try and swallow!!!

A muscle biopsy is the last resort in looking for a diagnosis. First they would want to look at mito labs and a possible skin biopsy. The tricky thing is that normal lab results are often common with adults with mito esp in the beginning stages. I have a friend with confirmed mito and has had a lot of progression, but her labs are still normal. The Drs are perplexed. Lab test can be normal for a long time then suddenly become abnormal. I now have a few abnormal labs and a mildly abnormal muscle biopsy, but not enough information to diagnose mito. My last resort is a fresh muscle biopsy. As of now I am taking an emotional brake and will not be going through anymore diagnostic testing other than seeing a rheumatologist. I will post some information regarding how to diagnose mito.

Dawn

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Here I some mito articles I received from the mitoldies web site.

ADVERTISEMENT

http://www.medscape.com/viewarticle/410871_print

Extensive article on treatment of mitochondrial cytopathies. May require

free Medscape registration to view.

http://umdf.org/pdf/mitocyto.pdf

Mito Primer. Requires Adobe Acrobat to view.

http://www.umdf.org/pdf/mitoane.pdf

Mito and Anesthesia. Requires Adobe Acrobat to view.

http://www.ccjm.org/pdffiles/COHEN701.PDF

Mitochondrial Disease in Adults: What We Know So Far.

http://www.emedicine.com/neuro/topic580.htm

Article on MELAS-one form of mitochondrial disease. May require free

registration to view.

http://biochemgen.ucsd.edu/mmdc/ep-toc.htm

The Spectrum of Mitochondrial Disease---11 full length articles by experts.

PDF files that require Adobe Acrobat.

Three mito articles on the MDA site:

http://www.mdausa.org/publications/mitocho...myopathies.html

http://www.mdausa.org/publications/Quest/q64mito.html

http://www.mdausa.org/publications/Quest/q65mito.html

_____

From: Dolores Johnson [mailto:http://health.groups.yahoo.com/group/mitoldies/post?postID=N4jeQSKgS3DpbZ0x42ATG-HX5Apb-QvF12Hm6SAlYy9GybTldOR8FQS1_CrJKVL7Z9P3mUoqVPH33upB4Qa3sw

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