DawnA

Congrats on your accomplishments. I was wondering if when you have to sit for a long time if you sit with your kness to your chst or legs folded under you. I often compenste like this. However, it does not look very professional. Dawn Anich

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

It seems to take me a long time to recover from loosing fluids....electrolytes drinks, salt and time are required for my recovery. Iv fluids could really help speed up this process for you. I can only imagine how bad I would feel after a colonoscopy prep. Hope you are feeling better soon. Dawn A

Thanks Merrill for updating us on Emily and the suggestion of snailmail. It will be nice for her to feel our love and know she is not forgotten. Being in that POTS pit is not a good place to be. It sounds like her pit is big right now. Dawn A

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

Wow Iam reading this right now as my bones are just aching sooo soo badly. Does anyone find increased activity makes this worse? This is interesting that soo many of us have this. I went out for a little while today and my legs hurt so bad when I walked, I felt like crying. Does anyone else get this? Maybe I should try neurotin too. Dawn

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.

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

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

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

This is good news Ernie! I am sooo happy you found a Dr who cares and is putting forth extra effort. Dawn A

I am off to Mayo in the AM! I will be looking out for a woman named Ginger with a husband named Scott. It would be funny if I met you Ginger. It was sure nice of you Ginger to give such a good description of your visit. It gives others insight on what to expect. Take care everyone, I will be back! Dawn

I hope the everything works out good for you and you are feeling well ! Best Wishes! Dawn Anich

I hope everything works out for you and you are out of pain soon. Best Wishes! Dawn A

Glad to hear that your Echo is looking good and the fluid is clearing up. I hope the EKG brings you good news also. Rice pudding is what calls me Yummmm! Dawn A

Cyberhugs to you! I am sorry things are not going so good for your father. I will pray that he recovers soon. Dawn A

Welcome to the forum! Everyone has said everything! All I can say I am sorry you are having such a hard time with Drs. I have been there. I hope you can get this all sorted out soon. Dawn A

Welcome back, ihope your eating solids soon. dawn

Wow this gives me hope on feeling better someday. My Dr increased my Wellbutrin last fall, when my depression got worse. I am also on effexor. I really think the Wellbutrin has made me so much worse. I have tried to slowly go off the antidepressant, but I got very sick. I am hoping Mayo can give me more insight and test my levels. I am not seeing an autonomic neurologist, but would like to be tested furthur. I have had the TTT, theroregulatory test and Q sart. Is there anything specific I should ask for such as cachecolines....?????? Thanks Dawn

Thanks for all of the replies. I feel more at ease now. I will tell them that I am only able to stay three days! Neurology does not have a schedule for me since my main appointment is to the Dr Whiteman my geneticist. Neuro is just a consultation...however my POTS is no longer being controled by meds and a refferal to Dr Low would be nice. I am looking forward to this appointment to learn more about my condition. I will let you all know. We learn sooo much from one another. Even though I am not able to respond or read all of the posts here. I love and appreciate everyone who posts here. We are all thrivers not just survivers. Dawn A

I have a low resting HR also since beta blockers. It is around 60 and was lower in the beginning. WHen I stand my heart rate goes up 110-120 bpm. Much higher when I am off of beta blockers. We are all different . POTS is more about how much our HR increases than how high it gets. dawn

Thanks for the quick replies..I am still online. Thanks for the idea! I am going to call neurology and see if they have a schedule for me. Merrill, the reason I am going to Mayo is that I am seeing a metabolic specialist up there. My dysautonomia, seems to be caused metabolic problem... possibly mitochondrail myopathy. I have neurological stuff other than POTS going on. I am seeing Dr Whiteman and he know his stuff when it comes to metabolic disease unlike my last Dr. It is such a relief to have someone that I feel confident in. It is good to hear that they try and schedule everything in the first week. This brings me relief. I feel very fortunate to be soo close. I can always go back. I may be seeing a rheamatologist too. Thanks again, dawn

Just read this lonoong thread for the first time. I am sorry to hear that you are having such a hard time. Your Dr sounds stubborn and arrogant...how frustrating. Is the neurotin helping? If it does, I pray that your Dr is willing to refill it or you may have to have another ER visit. I am sorry to hear about your Aunt. Yes, when it rains it poors. I lost an Aunt at 61 in Dec. My other Aunt has been living on a venilator for a month...poor thing she is only 65. My mom is having a hard time dealing with this, esp when my stepfather has just been given a fatal prognosis. I hope things come together for you soon. I am glad to hear you have a supportive church. God Bless, Dawn A

I go to Mayo soon on the 14th. This time I am seeing neurology and my geneticist. I am worried about neurology. I hear about all of these long visits and all of the testing. It is making me nervous. I am unable to stay for two weeks! I have noone to watch the kids when my husband works...we can not affrd for him to take time off. I hope they do not make me repeat all of the testing like they have with many of you. If so I am going to have to do it in more than one visit. I wonder if they are going to want to do all of the autonomic testing over again. Dr Whiteman did not think it was necessary, but the neurologist may be different. Why have your visits been so long? Was their a lot time between testing and appointments? I am only five hours away, so I can always go home for a few days. It will be interesting to see what happens at my next appointment. I am psyched up and ready to go!! Dawn

Ginger, I just wanted to wish you luck at Mayo. I right behind you. I sill be there next Wed. Dawn Anich