thanks for your responses- they were very helpful. At some point, i do think that I will get the biopsy, but I feel that its okay to wait- only because having the biopsy will not change anything.
Zofia- sorry to hear about how incompetently they handled your biopsy results. Good luck with the upcoming procedure.
Hi Everyone:
It's been interesting to read about everyone's experience with muscle biopsy's. I haven't had one yet and think I would like to though. From what I understand taking the biopsy is easy however prepping and preserving the biopsy immediately is key to telling what kind of genetic readings they can get from the biopsy. To confirm CPEO I didn't need to have a muscle biopsy. My doctors at Columbia Eye Institute in NYC and my surgeon at LI Jewish Hospital both scanned and mapped my eyes. It was so long ago that I can't remember if it was a drink or a shot but my eyes were photographed. They could see the ragged muscle fibers in the photography etc.. Has anyone else had this same tracking and testing done to their eyes?
Also found in all my exams was the macular degeneration. This is really getting to me lately. At 46 I'm really beginning to have some of the vision loss at night. Anybody else having this problem? Have your doctors mentioned this to you?
Interesting to hear that your diagnosis was thru some kind of imaging. I have not heard anything about such a test but would be interesting to find out more especially if it could confirm the diagnosis without having to have a muscle biopsy. Please let us know if u recall the name of the test.
Hi.
I had the arm muscle biopsy. They found ragged red fibers.
I now have an ugly 2 inch scar (very visible and icky looking)
on my arm. Maybe I don't heal well. I don't know. It is all
puckery looking. I tried that scar-fade stuff, but no luck.
I'm trying to get in to see my doctor and I'll get the name of the test which was run. I've got new insurance and my doctor isn't covered on it so it's a problem.
charlene
Quote:
Originally Posted by di88
Charlene,
Interesting to hear that your diagnosis was thru some kind of imaging. I have not heard anything about such a test but would be interesting to find out more especially if it could confirm the diagnosis without having to have a muscle biopsy. Please let us know if u recall the name of the test.
Sounds like I'm progressing like you. I have trouble at night and tend to hold onto someone if possible also. Problem is people don't really realize I've got problems... I don't want to be treated like I've got problems. I've only recently started telling people about it but no one is really aware of what mitochondrial disease is.. when you explain it I don't think most people understand. Other than the way my eyes look I look and try to act normal but my body keeps getting in the way! LOL
I'll ask my doctor about atrophy of the optic nerve. I know I've got atrophy of other supportive nerves around my eyes. My facial muscles on my forehead and cheeks are compromised. Do you experience any numbness/loss of feeling around your eyes? It's new to me but in the morning I've had numbness. I have to kind of rub my face and eyes and more feeling returns and i'm fine for the rest of the day. When I'm tired towards the end of the day I feel the numbness returning.
Also, when you had your muscle biopsy did they do the full testing where the enzymes and genetic workups were done? The genetic workup is the most compelling reason I'd want it done. It might help predict what problems I face in the future and try to prepare.... In some ways I don't want to know. I'm a single person and my future health concerns me.
Thanks for your help. I know you're handling a lot yourself. It helps to know that you seem to be coping so well.
Charlene
QUOTE=zofia;4009348]Hello Charlene,
Since my fifteenth, twentieth I have had trouble with my vision at night. I never managed driving at night.
Finally I also couldn’t walk alone in the dark. Some years ago I started having trouble seeing during the day, especially in gloomy circumstances.
Also everything I see seemed to be maid out of gravel and is blurry. I thought this must be m.d. , but it wasn’t: I have atrophy of the optic nerve.
Thanks for the great compliment! On the whole I think I’m coping, but now and then it’s hard though. You are single. I can imagine this makes you worry a bit extra about the future. We have 3 daughters, and I’m certain the youngest has it too, and the oldest maybe. This worries me a lot. Especially because the youngest is definitely diagnosed with an encephalopathy now.
I don’t experience any numbness, but I do have a very, very tired feeling in my entire face. I can lift my eyebrows, but it is a lot less then some years ago. Also the muscle around my mouth and my cheeks are very weak. Smiling is becoming more difficult. The strangest thing: I can’t ‘wrinkle’ my nose any more(like when you smell something stinky). Then my nose starts shaking. Also I cant move my chin to one side without shaking. Eating gets a bit shaky too. My mother has this exactly the same.
They didn’t do the enzymes and genetic works in my biopsy. Just the staining for certain myopathies. That’s why I will have a second biopsy. I would also really like to know what dna defect is causing our problems.
Hello there, I am a Canadian Girl in which my neurologist thinks I might have CPEO. I have been seeing this guy for 11 years now (I am 37 years of age). I have been reading some of the posts and didn't realize that people with CPEO have heart complications that can result in death. I am devastated by this!! Is this true for all people or is it just a small percentage??? Please, someone talk to me!!!
Sorry to here that...I as well have CPEO and have been doing alot of research over the past 15 years...i to have herd this but dnt know how true it is...I wich that we could communicate a better way to obtain more infromation to help us both out...I would like to know what are your symptomns right now?
Hi there, Its Canadian Girl. My signs and symptoms are mostly droopy eyelids and have very little movement in my eyes. My eyelids don't obstuct my vision as of yet. As far as fatigue, I work shift work so I don't know I'm tired all the time because of that or is it my CPEO? Who would know!!! I have never had any surgeries or not taken any medication thus far. I am interested in CoQ10 though and what does it actually do. What are your signs and symptoms? I have been diagnosed for 10 years but never really found out too much information about it. The only info was from my Neurologist and now I know he didn't tell me squat about it...
Hi there, Its Canadian Girl. My signs and symptoms are mostly droopy eyelids and have very little movement in my eyes. My eyelids don't obstuct my vision as of yet. As far as fatigue, I work shift work so I don't know I'm tired all the time because of that or is it my CPEO? Who would know!!! I have never had any surgeries or not taken any medication thus far. I am interested in CoQ10 though and what does it actually do. What are your signs and symptoms? I have been diagnosed for 10 years but never really found out too much information about it. The only info was from my Neurologist and now I know he didn't tell me squat about it...
Hello Canadian Girl...I have droop eys as well...I first noticed my left eye drooping when i was 19 yrs old...I have had ptosis surgey on both of my eye lids, the first surgery didnt go well but the second one did, i you aver consider having the ptosis surgery ask me about the procedures first before u get it....I cant move my eye at all, the condition as affected my eye movement.I am not taking medications as well, I would like to if its going to help me move my eyes...Im starting to notice that my jaw gets tires when i eat and cant opem my motuh as wide as i use to...sucks dnt it....there are alot of good doctors here in texas that are doing research on the Mitichrondrial Myopothy they are very good, they have sent some of my muscle to the UK for research, if ur not seeing a good doctor then iots not good if there are not educated about this condition.you need to see another doctor concerning this, have you considered traveling, lets share more
Hello Canadian Girl...I have droop eys as well...I first noticed my left eye drooping when i was 19 yrs old...I have had ptosis surgey on both of my eye lids, the first surgery didnt go well but the second one did, i you aver consider having the ptosis surgery ask me about the procedures first before u get it....I cant move my eye at all, the condition as affected my eye movement.I am not taking medications as well, I would like to if its going to help me move my eyes...Im starting to notice that my jaw gets tires when i eat and cant opem my motuh as wide as i use to...sucks dnt it....there are alot of good doctors here in texas that are doing research on the Mitichrondrial Myopothy they are very good, they have sent some of my muscle to the UK for research, if ur not seeing a good doctor then iots not good if there are not educated about this condition.you need to see another doctor concerning this, have you considered traveling, lets share more
Hi Keith, It's Canadian Girl. I first notice something was wrong in pictures. My graduation picture had a pose that I wasn't looking straight into the camera. One eye was looking in the direction it was suppose to and the other eye didn't move. I thought to myself at that time " how did I do that". Also I remember learning how to drive. I would (and still do) have to close one eye to back up so I can only see one thing at a time. As far as seeing another neurologist, I have been out of province before. I had my muscle bio. out of province because they messed it up here. I don't know really what to do. I asked my neurologist about the surgery before and he said it is really a one shot deal and if I got it now the muscles might stretch again and I wouldn't be able to get it done later. I then asked to be referred to a surgeron (who is in another province) but when I phoned over, he said that medicare wouldn't cover it until it obstructed my vision and it would be just cosmetic surgery and it would cost. I couldn't afford it so I didn't go. I haven't had any problem with chewing or opening my mouth as of yet. I don't know how this all will affect me. I wonder if denial might be my best option.
I just saw your recent posts. Sounds like you might need a new doctor. I'm afraid that there are not many docs out there familiar with mitochondrial disease though. To begin, sounds like your doctor is only familiar with the surgery where the muscle is ties off and shortened. This is irreversable etc.. There is another procedure out there using silicone splints which are placed in the eyelid with two silicone strings which are tied to your brow muscle. I believe this is the frontalis sling surgery but I'm not sure if this term is used for all kinds of similar procedures etc. May I also suggest you join the United Mitochondrial Foundation. They have a great deal of information. Their website is www.umdf.org. A doctor Bruce Cohen who is a pediatric mitochondrial specialist participates in a "ask the doc" section and the website itself has useful info. I can tell you that the only treatments they know of now are excercise to help maintain muscle tone, a mitochondrial coctail(this is a mix of different vitamins) and physical surgery are the current regimens to care for this annoying and progressive disease. CoQ10 is a great nutrient to take as long as you take a good quality pill. CoQ10 is a neccesary nutrient normally produced in the body and which is essential to our body on the cellular level to help convert nutrients into ATP(energy) For me, CoQ10 helps me in my energy level. When I want to work out I take CoQ10 and hour or two before excercising and my workouts are no way near as exhausting and tiring. Anyway,hope my feedback helps you. I've had CPEO for 28 years and like many others on previous posts we've all been through the difficulties is locating knowledgeable doctors and treatments. Good luck and if I may be of any help just yell.
Charlene
Hi Charlene, I have had CPEO for about 18 years but was only diagnosed about 11 years ago. I haven't done much research on it. I see my neurologist every year and he does an examination and tells me that nothing has really changed but when I look at pictures of me from even a few years ago, I can see the difference. I am also interested in this CoQ10. Can you buy it over the counter or do you need a prescription?? I also remember reading something about a connection with CPEO and autism. Have you heard this??? My nephew has autism. I am so glad to be able to communicate with other people with this disease.
HI All: I use a product called Q-gel made by Tischon. I had attended a mitochondrial symposium at Hackensack Hospital in NJ. Heard Dr. Bruce Cohen speak and this was one of the brands he'd recommended, used in studies ad proven in it's use. Forget CoQ10 in powder form. It's not really very bioavailable. Gel or suspension formula's are the better option.
There is a pharmacy CoQ10 available by prescription and maybe if you've got drug coverage it would cover this. The recommended dose for adults is 200-300 mg a day. Best to split it up into 2 doses.
Canadian Girl- I don't know much about the autism connection. haven't really been drawn to that topic because it's not something I'm dealing with. I'd be interested in hearin what you find out though.
Good luck with everything. Let me know if you have any questions for me. It's nice talking to others with the same problem.
Charlene
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Re: CPEO Part 3 
