I saw the neurologist who specializes in neuromuscular diseases about a week and a half ago. I was impressed that she took such an extremely thorough medical history. She was very interested in my early health history and early manifestation of CFIDS. She did a full exam, including basic strength tests of my arms, legs, and neck muscles where I had to push or pull against her arms.
At the end of the exam, she said she did not think that I had metabolic myopathy, but she DID suspect mitochondrial myopathy.
Mitochondrial myopathy?
I told her I'd always assumed my muscle weakness was from ME/CFS. She said it is entirely possible that it is CFS and not mitochondrial myopathy, but she wanted to do some tests to be sure. She ordered a bunch of blood work and an electromyogram (EMG) and nerve conduction study.
It's funny that she mentioned mitochondrial myopathy because I began wondering if I should get tested for mitochondrial disease since the end of 2011. I've read that one of the symptoms of mitochondrial disease (especially in adults) is CFS-like symptoms. Learn more about mitochondrial disease in adults.
There are also some doctors and researchers that believe ME/CFS is a form of mitochondrial disease, or at least involves mitochondrial dysfunction.
Getting shocked repeatedly followed by the repeated insertion of long needles into various muscles throughout my body is not my idea of a good time. What's worse -- I had to move and contract my muscles with the needle IN me! Ugh. I was physically wiped out for over a week after the tests.
I'm getting my results this Friday. Regardless of the results, I know I will be seeking a second opinion. As I've mentioned previously, ever since my MISdiagnosis of epilepsy, I vowed to always seek a second opinion when it comes to major conditions -- either to confirm that I do or confirm that I don't have whatever I'm supposed to have (or not have). I recently gained some peace of mind after seeing the rheumatologist who confirmed I do not have lupus.
I will be seeing one of the leading experts in mitochondrial disease in March. I actually made this appointment back in November or December when I first thought I wanted to get tested. Interestingly, I did not mention mitochondrial disease to the neurologist I'm seeing now because I wanted to get her objective opinion of what is wrong with me.
I'll try not to wait too long after my appointment Friday before I post an update.
At the end of the exam, she said she did not think that I had metabolic myopathy, but she DID suspect mitochondrial myopathy.
Mitochondrial myopathy?
I told her I'd always assumed my muscle weakness was from ME/CFS. She said it is entirely possible that it is CFS and not mitochondrial myopathy, but she wanted to do some tests to be sure. She ordered a bunch of blood work and an electromyogram (EMG) and nerve conduction study.
It's funny that she mentioned mitochondrial myopathy because I began wondering if I should get tested for mitochondrial disease since the end of 2011. I've read that one of the symptoms of mitochondrial disease (especially in adults) is CFS-like symptoms. Learn more about mitochondrial disease in adults.
There are also some doctors and researchers that believe ME/CFS is a form of mitochondrial disease, or at least involves mitochondrial dysfunction.
- Dr. Lucy Dechene: Mitochondrial Dysfunction, Post-Exertional Malaise, and CFS/ME
- Dr. Sarah Myhill: CFS - The Central Cause: Mitochondrial Failure
- Dr. David Bell: ME/CFS as a Mitochondrial Disease
- Columbia University Clinical Trial: CFS: A Presumptive Mitochondrial Disorder
Getting shocked repeatedly followed by the repeated insertion of long needles into various muscles throughout my body is not my idea of a good time. What's worse -- I had to move and contract my muscles with the needle IN me! Ugh. I was physically wiped out for over a week after the tests.
I'm getting my results this Friday. Regardless of the results, I know I will be seeking a second opinion. As I've mentioned previously, ever since my MISdiagnosis of epilepsy, I vowed to always seek a second opinion when it comes to major conditions -- either to confirm that I do or confirm that I don't have whatever I'm supposed to have (or not have). I recently gained some peace of mind after seeing the rheumatologist who confirmed I do not have lupus.
I will be seeing one of the leading experts in mitochondrial disease in March. I actually made this appointment back in November or December when I first thought I wanted to get tested. Interestingly, I did not mention mitochondrial disease to the neurologist I'm seeing now because I wanted to get her objective opinion of what is wrong with me.
I'll try not to wait too long after my appointment Friday before I post an update.
6 comments:
I applaud you for seeking out all possible diagnoses. I think I've just given up. Wouldn't it be nice, though, if you found something that's actually treatable? I know someone who had "m.e/cfs" and found a diagnosis of movement disorder/parkisons and the medications help her tremendously. I hope you have a similar experience, in any case no stone will be left unturned, right?
Hi upnorth - It would definitely be nice to find something that is treatable. I go through periods of accepting my situation and dealing with it and periods of wanting to know if there is actually something else wrong with me.
Hi! I am in the same situation as you. I am getting an EMG Monday. I am very worried this is going to be painful/uncomfortable after reading what you wrote. Please let me know, how are you doing now?
Hi Lauren - I'm not going to lie, the EMG was extremely unpleasant with moments of sharp pain. After all, it does involve using a needle! However, the pain did not last. I was exhausted afterwards, but I was not in any pain. Though I would not choose to get another EMG unless absolutely necessary, I'm glad I had it done this time around because it confirmed my my muscle difficulty was NOT in my imagination. It also confirmed the need for further testing. Still, I would rather have another EMG than another muscle biopsy!
Hi Alyson! My name is Stephanie Koleno. My mom suffers with Mitochondrial Myopothy with high lactic acid. I watch her struggle everyday and have been despirately been trying to find help for her for her conditions are worsening I saw you blogged that you are going to see a mitochondrial specialist if you find them or anyone else of any help I would greatly appriciate it if you would contact me with information. Im despirate for help I will go to any lengths to find help for her. My cell phone number is 814-409-8072 I get text messages and calls please contact me if you have ANY helpful information. And if I can be of any help or support to you please contact me. THANK YOU!
Hi Stephanie - I'm so sorry to hear about your mom's struggles. I'm not a doctor, but I strongly suggest your mom see someone who specializes in mitochondrial diseases. (If your mom has already seen a specialist, a second opinion might be in order since she is suffering so much.)
I've found that most of the mito doctors are associated with pediatric departments or children's hospitals but quite a few seem to be willing to see adult patients. My own specialist is based at a children's hospital. I always confuse the staff when I check in for my appointment because they ask if I'm "Alyson's mom"!
I found my mito specialist from one of the mito disease websites (can't remember which one). I actually had to call a couple of different doctor's offices to ask if they would see an adult. Here are some links with doctors' names that may help:
* http://www.mitoaction.org/forums/list-mito-specialists
* http://mitosoc.org/blogs/diagnosis/providers/
I've also found these websites to be user-friendly in terms of learning more about mitochondrial disease:
* http://www.umdf.org
* http://www.mitoaction.org/
Best of luck! My email address is cfidsalyson@sbcglobal.net.
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