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mrmrsczar 09-03-2012 08:48 PM

Is anyone else diagnosed with CPEO?
 
Hello,

My name is Nicole and I just recently underwent a muscle biopsy to see if I have cpeo. My initial complaints were headaches, hearing loss and losing weight. My dr. sent me to a neurologist, ENT, and an oculoplastic surgeon (because I wanted to get my ptosis taken care of). They all suggested having an MRI to rule anything serious out, plus a bunch of blood tests. My mri came back normal however my blood work came back with some elevated anti bodies. From then on I am an ekg, emg, needle function test and more blood work. My emg and needle function test showed something abnormal and the neurologist suggested a muscle biopsy. During all that, I also saw a neuro-opthlamologist and he said that I definitely have some unusual weakness in my eyes. The audiologist also found significant hearing loss in my right ear and my left is following along as well. All of these things have pointed towards cpeo. I feel like I am tired all the time and need to take a nap during the day. My vision seems off, like I am not judging distance side to side as well. I definitely cannot hear..which is super frustrating.

I just wanted to know if anyone else is experiencing the same thing. This disease seems very rare and is not treatable. Anyone???

Leesh 10-31-2012 10:53 AM

Re: Is anyone else diagnosed with CPEO?
 
Diagnosed last week
mri sceduled for 20 november. Had one in may which showed everything fine but this lneurologist wants to find something *wrong* so i have to go through it again. Blood taken last week,no reportyet. Tell me about your biopsy, please. They're going to do *that* to me (gleefully rubbing their hands in anticipation) on 5th december.
I have hearing loss, but not sure it's attributable to cpeo. Both eyelids now nearly closed, am all but blind. Have double vision if both eyes open. No onew else has mentioned that. You hear ofanyone?
Have lost sense of balance, need assistance to walk in & out of all these clinics. Am i only one?
Have spoent 6 months going to 5 eye specialists. All a waste of time, says this neurologist. Familiar to anyone?

mrmrsczar 10-31-2012 12:23 PM

Re: Is anyone else diagnosed with CPEO?
 
Leeshore,
I had my biopsy done and it showed the "ragged red fibers" which is consistent with CPEO..but they also did genetic testing which showed a mutation of a gene that is consistent with a mitochondrial disease called MELAS. The biopsy wasn't too bad but super sore afterwards. My MRI showed nothing as well. Double vision is a symptom of some mito diseases. My blood work did not really show anything so that is why they decided to do the biopsy. I have heard of people having lifts done on their eyelids but it needs to be a surgeon that is familiar with mitochondrial disease.

Hope everything goes well..

Leesh 10-31-2012 08:29 PM

Re: Is anyone else diagnosed with CPEO?
 
[size="6"][/size]big
big thanks for reply (i can barely see, so navigate through my typos please. Can't seem to get the "l" out of my lines!)

for how long did the pain continue *after* this biopsyl?
My view is that at my agle--83+--there is little hope of what thes shamans choose to call "treatment" so why bother with all these costly tests for an incurable disease? "costly" probably answers that question.
Were i younger, i'd have some hope.
You have helped a lot by detailing your experience (which frightens me!) and i'm grateful for your response.

Leesh 10-31-2012 08:36 PM

Re: Is anyone else diagnosed with CPEO?
 
Addendum:
*This* one (doc #6) ordered MRI, biopsy, & heaven knows what else on FIRST visit, before blood was even taken, & thus before it had been analysed.
This seems either odd or ominous. [lsigh]
(these pesky "ells". sorry)

Silv 11-06-2012 02:11 PM

Re: Is anyone else diagnosed with CPEO?
 
Just diagnosed. Same symptoms...Feel crappy all the time. No one really understands especially friends and family. Hard to find people to talk to. It's lonely.

di88 11-06-2012 07:02 PM

Re: Is anyone else diagnosed with CPEO?
 
[QUOTE=mrmrsczar;5050210]Hello,

My name is Nicole and I just recently underwent a muscle biopsy to see if I have cpeo. My initial complaints were headaches, hearing loss and losing weight. My dr. sent me to a neurologist, ENT, and an oculoplastic surgeon (because I wanted to get my ptosis taken care of). They all suggested having an MRI to rule anything serious out, plus a bunch of blood tests. My mri came back normal however my blood work came back with some elevated anti bodies. From then on I am an ekg, emg, needle function test and more blood work. My emg and needle function test showed something abnormal and the neurologist suggested a muscle biopsy. During all that, I also saw a neuro-opthlamologist and he said that I definitely have some unusual weakness in my eyes. The audiologist also found significant hearing loss in my right ear and my left is following along as well. All of these things have pointed towards cpeo. I feel like I am tired all the time and need to take a nap during the day. My vision seems off, like I am not judging distance side to side as well. I definitely cannot hear..which is super frustrating.

I just wanted to know if anyone else is experiencing the same thing. This disease seems very rare and is not treatable. Anyone???[/QUOTE]

I have biopsy confirmed cpeo (even without the biopsy, my neurologists were quite certain that I had cpeo because my symptoms were so classic). My symptoms basically were drooping of the eyelids and decrease movement of other eye muscles as well which happened slowly over many years. I have generalized fatigue as well. I am not sure if hearing loss is typical of cpeo but mitochondrial myopathies run across such a spectrum that its probably not completely unusual. Hope this helps.

Leesh 11-07-2012 10:55 AM

Re: Is anyone else diagnosed with CPEO?
 
[quote=silv;5084639][/quote]
please tell me about biopsy. There are horror stories about it. Pain, misery, having to be held down on table & so on. Could youu describe yours?
I have this to face, may rfefuse it. Must write in upper case because am nearly blind now. No real treatment appaarently.

Leesh 11-07-2012 10:56 AM

Re: Is anyone else diagnosed with CPEO?
 
[COLOR="black"][/COLOR][quote=silv;5084639][/quote]
please tell me about biopsy. There are horror stories about it. Pain, misery, having to be held down on table & so on. Could youu describe yours?
I have this to face, may rfefuse it. Must write in upper case because am nearly blind now. No real treatment appaarently.

di88 11-07-2012 04:11 PM

Re: Is anyone else diagnosed with CPEO?
 
[QUOTE=Leesh;5085096][COLOR="black"][/COLOR]
please tell me about biopsy. There are horror stories about it. Pain, misery, having to be held down on table & so on. Could youu describe yours?
I have this to face, may rfefuse it. Must write in upper case because am nearly blind now. No real treatment appaarently.[/QUOTE]

I HAD MY BIOPSY DONE FEW MONTHS AGO FROM THE THIGH-THIS IS THE MOST COMMON LOCATION THEY DO THE BIOPSY. THE PROCEDURE TOOK ABOUT 1 HOUR AND I WAS ASLEEP THROUGHOUT (THEY GIVE ANESTHESIA MEDICATIONS THRU THE iV). I LEFT THE HOSPITAL THE SAME DAY. YES YOU WILL HAVE PAIN FOR AT LEAST A FEW DAYS- I HAD TO TAKE STRONG PAIN MEDICATIONS FOR AT LEAST A WEEK. BEING ABLE TO CLIMB STAIRS COMFORTABLY TOOK ANOTHER 3-4 WEEKS. MY ONLY COMPLICATION FROM THE SURGERY- SOME NUMBNESS IN THE AREA THEY DID THE BIOPSY- I THINK THEY MUST HAVE INJURED ONE OF THE NERVES DURING THE PROCEDURE- NOTHING THEY CAN FIX NOW! LET ME KNOW IF YOU HAVE ANY OTHER QUESTIONS:)

Leesh 11-07-2012 07:25 PM

Re: Is anyone else diagnosed with CPEO?
 
You've been enormous help describing this godawful biopsy.
Many thanks.

SiobhanOG 01-20-2013 04:58 AM

Re: Is anyone else diagnosed with CPEO?
 
HI LEESH, JUST jOINED SO HOPE YOUR STILL CHECKING IN....I HAD MUSCLE BIOPSY SIX YEARS AGO AND JUST WANTED TO TELL YOU THERE IS SEEMINGLY TWO WAYS BIOPSY ARE DONE.....ONE WHERE THEY PUT YOU UNDER AND YOUR OBLIVIOUS TO WHATS BEING DONE AND THE OTHER WHERE THEY DON'T PUT YOU UNDER......MINE WAS WITHOUT BEING KNOCKED OUT AND LORDY LORDY IT HURT SO IF YOU HAVE NOT HAD YOUR YET MAKE SURE YOU ARE GIVEN THE OPTION OF BEING KNOCKED OUT IF THAT'S WHAT YOU WANT. I WAS NEVER GIVEN THAT OPTION AND DID NOT KNOW IT WAS AVAILABLE SO IGNORANCE WAS BLISS AND OFF I TODLED ON MY OWN TO HAVE IT DONE AND WAS SURPRISED WHEN BEFORE I WENT IN TO HAVE IT DONE THAT BECAUSE I LIVED ALONE THEY WERE ADAMANT THAT I SHOULD NOT GO HOME UNLESS SOMEONE CAME TO STAY WITH ME OR I GO TO STAY WITH A FRIEND, I WENT TO STAYWITH A FRIEND FOR A FEW DAYS AND AFTER I HAD IT DONE I KNEW WHY THEY WANTED SOMEONE TO BE AT HOME TO GIVE A HAND ONCE I HAD IT DONE! IT WAS NOT A PLEASANT EXPERIENCE AND DO WISH I HAD KNOWN I COULD HAVE HAD DONE KNOCKED OUT! SO IN A NUTSHELL IF GOING UNDER IS SUITABLE FOR YOUR HEALTH CONDITION CONSIDER IT........I DID GET A CONFIRMED DIAGNOSIS OF MITOCHONDRIAL DISEASE AND DO HAVE CPEO WITH PTOSIS........I WAS REALLY SHOCKED TO GET DIAGNOSED AS I HAD HAD A FEW YEARS OF BEING TESTED FOR DIFFERENT THINGS WITH NEGATIVE RESULTS AND WAS SURE THIS WAS GOING TO BE ANOTHER NEGATIVE BUT THAT'S WHERE MY MEDICAL JOURNEY TOOK A DIFFERENT JOURNEY AND ON IT GOES. GOOD LUCK WITH YOUR JOURNEY AND DECISIONS.

Leesh 01-20-2013 07:55 PM

Re: Is anyone else diagnosed with CPEO?
 
Thanks for your answer. I'm discouraged to see that it joins the long line of horror stories. I would definitely, now, opt for being put under during the unholy process. However,. I wonder if the recovery would be just as bad as yours was, requiring someone to help you? Probably it would. Do you agree? Do you know of anyone who allowed this biopsy but was anasthetized during it who needed daily help afterward? I've read some people here who mentioned pain during recovery.
For time being, the biopsy has been avoided. Not sure now that i'd even allow it. Again: Many thanks. Everything we can learn about this is a help. Victims need to be warned!

BYU1972 02-09-2013 04:28 AM

the last two years have been busy for me too!
 
Fiirst.... I have gone through exactly the same thing. Eyes began to droop and all the stuff happened quick and you read and research (I had to do that because most doctors and the medical community is NOT your advocate. CPEO is so rare. When i have been to my doctors, I am the only one they have treated with this diagnosis (they have heard of it though). In 2009 my husband and i moved from Florida to Maryland, and in 2010 I began to have horrible sensitivity to light and when my mom visitied she noticed my eyes were droopy then the light got so bad and in my job I started wearing sunglasses, dark ones.

When my regular eye dr, sent me to an occuplastic surgeon to get eye lifts, the dr said "why don't we find out why your eyelids have begun to droop" This is when i first heard the name CPEO (I did tons of research and freaked out, esp. since there is no cure or treatment). My eyes were so dry, i cried and cried everyday. I hated to drive, esp at night (I no longer drive at night), and read about all these ppl who have all these other problems.... leter....

At the end of 2011 I couldn't bear being on the computer anymore all day with all the overhead, florescent lights, and moved home to Florida where the climate is warmer and the humidtiy is high ...ok enough about me (so boring)... i'll tell more of my story later... now you... Girl, the sling (I havent had it yet) is probably your best bet. CPEO is a neuromuscular disease,,, so most likely there is no muscle to hold your lid up once you got it lifted.

I am so sorry you went through the ordeal with no result. If your dr. is busy, i would search for another... you do need to be your own advocate but dr. are here to help us. You may need to travel? i am waiting for your reply.

much love... I am sure you have used a hot washrag to put over your eyes when they hurt? that helps me ... I am waiting for your reply We are in this together...

bullfinch 02-10-2013 05:13 AM

Re: Is anyone else diagnosed with CPEO?
 
Hello everyone
I only found this site a few days ago and am amazed. I have had cpeo for over 30 years and never met or heard of anyone else with it so it has been a real eye opener [excuse the pun] for me to find people who share my experience and understand some of the problems . I must say to start with I do have a lovely family who are a great support and also all in the medical profession I have been in contact with have been very interested and as helpful as is possible with this unusual situation.

In the next month or two I will :)be having the sling op I have had the pre op but am waiting for an appointment. over the years I have had props botox injections in the eyelids and also contact lenses with shelves on them but due to hardly any eyeball movement all caused bad dry eyes and were unsuccessful so this is my last hope. To end on a positive note as I am running out of space, it is a very slow moving disease and neednt stop you living a full and happy life if you work round it, if I can help in any way please ask. I have two grown up sons by the way who do not have cpeo.


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