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Daily Journal with Mitochondrial Myopathy

Day by Day with a Movement Disorder

My Journey with a Mitochondrial Disease - "But they that wait upon the LORD shall renew their strength; they shall mount up with wings as eagles; they shall run, and not be weary; and they shall walk, and not faint." Isaiah 40:31 KJV

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Diagnosis in 2006 - Parkinson's Disease and Peripheral Neuropathy, then in 2007 - Essential Myoclonus. Finally in 2011, after a muscle biopsy, I was diagnosed with Mitochondrial Myopathy as well as Peripheral Neuropathy.

Share my journey - coping with the testing, the medicines, nutrition, digestion problems, exercise, the emotions, uncertain diagnoses and no telling what else!

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Visible vs Invisible Disabilities

Day by Day with a Movement Disorder Posted on December 6, 2011 by DBMay 18, 2016 2

It’s absolutely amazing how wonderfully helpful and concerned total strangers have been since I started wearing the neck brace out in public! Not only are they helpful, but they also strike up a conversation with me, usually asking if I was in an automobile accident. We ate lunch out yesterday, and a waiter who wasn’t even taking care of us stopped by to ask what was wrong with my neck! I can’t imagine that people would be so interested if I had an arm in a sling. So I think at least part of their questioning is that people “enjoy” hearing stories about wrecks! LOL!

But I digress. This sudden “visibility” (that I have avoided for so long out of self consciousness) affirms that most people have a kind heart toward those with disabilities, but they are usually too preoccupied with themselves to notice those who are struggling with everyday activities. I must work at being more conscious of others when I am in public.

I think of all the people dealing with the various Movement Disorders who don’t use a cane or walker, but who find even walking around to be difficult. I’m sure most don’t want to be seen as disabled, but I’m sure they would all appreciate the little kindnesses, like holding a door open for them. But without that “hit them over the head with it” obvious indication of limited abilities – people just don’t notice they could use a little extra TLC.

I know that has been true for me for a long time. I’ve been uncomfortable with the idea of being seen as handicapped, although I’ve been grateful to have and use a Handicap Sticker for the car. But I’ve also been saddened that friends didn’t notice that I’m struggling. Then I start fussing at myself that I’m having a pity party and to get over it. I can’t have it both ways, I tell myself. I don’t want to be one of these people who is constantly listing all their current ailments, aches, and pains, so it’s my lack of voicing how I’m doing that prevents people from realizing I’m having troubles.

The neck brace has very quickly changed all that. It’s a shame it took using it to cause people to notice the problems I have had for a long time with simple activities like walking.

Posted in Symptoms | Tagged difficulty walking, disability, disabled, handicapped, hidden disability, Movement Disorder, neck brace, Quality of Life | 2 Replies

Trying to Get Comfortable

Day by Day with a Movement Disorder Posted on November 30, 2011 by DBMay 18, 2016 2

I’m still having a lot of trouble with my weak neck muscles. I’ve read that the human head weighs 10 pounds, and I believe it! So we bought a new soft neck wrap-around brace that’s fairly comfortable, because there is an adjustment under the chin to make it smaller there. That keeps me from feeling like I’m choking, at least. My Neuro cautioned me not to use it too much, though, because it would just make my neck muscles that much weaker if I did.

So I’m mostly using it in the car and at church. I need it at church, because I don’t get any support from the chair in Sunday School. We’re meeting in our Fellowship Hall for the next few months while our sanctuary is being renovated, so they were kind enough to move a high back upholstered chair from the vestibule downstairs for me. That did help this last Sunday, but I’m still awfully sore by the afternoon. Sitting up to eat wears me out by the end of the meal.

At home I have a Tempurpedic type U shaped cushion I use on the sofa that gives me some support without doing all the work for me, and it helps a lot. We still try to get out of the house a couple of days during the week so I can walk for a while. I’m extremely slow, usually holding onto a shopping cart for help, but at least I’m getting some exercise that way.

My muscle biopsy is supposed to be Dec. 8, but I still haven’t received the official paperwork about it in the mail. So I’m just in a waiting game for now.

I continue to run Google searches occasionally, trying to find out more about the various types of Myopathy. I was very interested to find out there IS something called Steroid Myopathy! I’ve been telling every doctor I’ve seen that all this weakness started when I was pumped full of steroids after I developed Angioedema from a drug reaction. Who knows… I may turn out to be right!

I’ve also found that there are all kinds of Movement Disorder problems caused or aggravated by Statin drugs. Since Lipitor became more easily available today, and Statins are cholesterol lowering drugs, this is worrisome to me. I stopped taking my cholesterol meds when my liver enzymes went crazy, but there are an awful lot of people who take these drugs. We hear all these side effect warnings so much that I think most people’s brains just glaze over and ignore the warnings.

We had a wonderful Thanksgiving, and I do have a lot to be thankful for. Even though they drive me crazy with their slowness, I’m extremely thankful that we live close to a world renowned teaching hospital at UAB, so I can see their Super Specialists when I need them. And I’m very thankful I have a good Neurologist and a General Practitioner who take the time to listen to me and seem genuinely concerned about helping me get better.

I’m thankful for a supportive family who put up with me, as I know I’m not very easy to live with. It seems like everything frustrates me nowadays. So I’m irritable and easily upset. My poor hubby earns another star in his crown every day!

Posted in Medicines and Supplements | Tagged Angioedema, cholesterol, drug interaction, exercise, Lipitor, Movement Disorder, Myopathy, neck brace, Statins, steroids, weakness | 2 Replies

Test Results??

Day by Day with a Movement Disorder Posted on November 12, 2011 by DBNovember 20, 2016 6

The Neuromuscular Specialist called the other day – 2 days after I had called his office and left a message asking for an update on the test results. He was rattling off a lot of medical terms I wasn’t familiar with, and his thick accent didn’t help in understanding what he was telling us. But from what I could understand he thinks I have Mitochondrial Myopathy, which is a genetic disorder involving DNA mutations. I questioned him about that, as it would seem logical to a lay person that if it were genetic I would have had symptoms my whole life. He said symptoms often didn’t show up until a person’s 50’s or 60’s, and my first movement disorder symptoms did show up in my late 50’s. And I was what people used to call a sickly child.

From what I’ve read it’s actually called Adult Onset Mitochondrial Myopathy. I did find a very good information source online at the UMDF, United Mitochondrial Disease Foundation . Once I joined with a free membership I was able to read quite a few helpful articles.

There’s a long list of possible symptoms associated with MITO, as it’s abbreviated, depending on which organs are affected by the gene mutations. But I do recognize myself in the list. Even the Type II Diabetes is on the list, as well as the Myoclonus.

He is scheduling me for a muscle biopsy for a more conclusive diagnosis, although even then it won’t be definitive. But I’ll feel better knowing we’d tried everything we can to pin down the diagnosis and what type of MITO I might have. I handle the Devil I Know much better than an unknown enemy. There’s just something about being able to read about the disease that helps me deal with it – even if there is no real treatment for it.

There are some articles I’ve read that suggested there are some vitamins and supplements that may help to delay the progression of the mutations, but these articles caution not to take them without medical supervision, as some can actually make variations of MITO worse, rather than delay progression.

So it’s still a waiting game, as I continue to be very weak and find walking to be difficult and slow and holding up my head very tiring and painful.

Posted in MITO, Tests | Tagged diagnosis, DNA, genetic, MITO, Mitochondrial Myopathy, Movement Disorder, muscle biopsy, Neuromuscular, UMDF, United Mitochondrial Disease Foundation, weakness | 6 Replies

The Long Awaited Appointment

Day by Day with a Movement Disorder Posted on October 9, 2011 by DBMay 18, 2016 10

We’ve waited several months for an appointment to see the Neuromuscular Specialist at UAB, and I finally saw him Friday. We had spent the better part of a week going from doctor to doctor collecting every medical record we could to either FAX to them or bring with us. I had updated all my own medical history information that I keep on my computer and took that with me, too. All the paperwork made a stack over an inch high.

The doctor was very pleasant, but his English was difficult to understand, and at times I think he was having difficulty understanding me. He asked a lot of questions, did a very brief test of muscle strength, walking, and balance abilities. He gave me a prescription for Lyrica, which he said would help with the muscle weakness and fatigue. And he ordered an EMG. That’s the test where they put needles in your legs and measure the electrical signal between the needles to see if the muscles are working properly. I’ve had that test done twice – one was abnormal and one was normal – but that was some years ago. He also mentioned I might need a muscle biopsy. 

And that was it.

We left feeling like nothing had been accomplished. I have to wait on them to mail me the appointment time for the EMG, so I don’t know how long it will be before that’s done. And the doctor’s office won’t decide when to see me again until the EMG has been analyzed, so that’s up in the air, too.

And now I’m taking the Lyrica, which is leaving me so looped that you would think I was drunk! I’ll give it a few more days to see if these initial side effects wear off, but there’s no way I can take it if this continues. It’s an anti-seizure medicine, just as my Primidone was, but I’m not having the Myoclonic jerks any more. I told the doctor that several times, but each time he would say that it would help with the weakness and fatigue. 

I wish I could say I had confidence in him at this time, but I don’t right now. Very frustrating, as I’m sure he’s a top notch doctor – he wouldn’t be at UAB if he weren’t. It’s the language situation that makes me feel doubtful. 

So I continue to walk slowly and awkwardly, and now I’m drunk to boot! LOL!! And disappointed, although I knew they would want to do more tests – they always do. It’s just been a long year of doctor visits and tests and more tests, and we’re no closer to finding out what’s going on with me than we were back in April.

Posted in Tests | Tagged difficulty walking, EMG, Lyrica, Movement Disorder, Neurological Disease, tests, weakness | 10 Replies

Still Being Poked, but Optimistic

Day by Day with a Movement Disorder Posted on September 7, 2011 by DBMay 18, 2016 4

Well, I was hoping to wait until I had something definite to add, but it looks like that’s not going to happen any time soon. Since I’ve written last I’ve had two more sets of liver enzyme tests with varying results, but still high. I’ve been to the Endocrinologist, and he’s run all the thyroid tests again and done an ultrasound of my thyroid.  He is satisfied that all is normal there. The liver biopsy results came back normal. So far so good.

But, I asked at my last Gastro visit if muscle atrophy could cause the liver enzyme numbers to be high, based on some information I found on the internet. So he added a Creatine Kinase test to the orders for the liver function panel, and the CK numbers were elevated. I’m not sure yet what that means, as I’m having a routine colonoscopy this week and won’t see my Gastro again until the followup appointment for that.

I’ve decided that the variation in AST and ALT numbers I keep getting is determined by how much walking I’ve done prior to the test. When I had to walk a long way to the lab the numbers have been higher than when it was close by. I really do think all the abnormal numbers have something to do with whatever is making my walking so labored and oddly gaited.

I have a feeling I won’t get any answers until I see the Neuromuscular Movement Disorder Specialist at UAB in October. But at least we’ve ruled out several things that could have caused this weakness.

I’ve finally reached a point that I’m no longer worried about them finding some horrible something wrong with me, and I’m very thankful for that. I am not as weak as I was back in March when this all started, and I’m VERY thankful for that. I feel good enough to have made a dent in the backlog of work that accumulated when I was so very weak, and that helps my outlook, too.

I’m thankful to God that most of the scariest possibilities have been ruled out, and I’m no longer anxious about the final results of all this testing.

Posted in Tests | Tagged Creatine Kinase, difficulty walking, Endocrinologist, gait, liver biopsy, liver enzymes, MDS, Movement Disorder, Neurological Disease, thyroid, weakness | 4 Replies

Liver Test Results Still Abnormal = Liver Biopsy

Day by Day with a Movement Disorder Posted on July 21, 2011 by DBMay 18, 2016 7

My liver enzymes tests came back abnormal again, higher than they have been, so I had a liver biopsy this morning. It will take about a week to get the results.

We had read online about what the procedure would be like, but what they actually did was a good bit different. And I’m still hurting, although not as bad as I was right afterwards. I’m still not able to take a full breath without a sharp pain at the entry point. If feels like I’m getting stabbed every time I inhale with any breath that’s not shallow. Morphine and Lortab barely cut it at the hospital, and they’ve long since worn off. I don’t want to take Tylenol, as I think it would be a waste of time. If I’m still hurting this much tomorrow, I’ll call my Gastro and ask for a prescription.

I’m guessing that my diaphragm is having myoclonic jerks from the irritation to the nerves in the diaphragm. And of course I’m not taking any Myoclonus meds now.

We’re praying that the results of this procedure will give a definitive answer as to whether or not I have any kind of liver damage. Reading all the side effects that the various meds I’ve been on and off for the last six years, it wouldn’t be too surprising if I had Drug Induced Liver Disease. Or it could be Fatty Liver Disease, as I used to weigh 182 pounds. I’m a small boned 5 foot 2 inch lady, so I was way overweight up until about a year ago.

My Neuro is waiting for all these liver tests to be dealt with before he will proceed with referring me back to the Movement Disorder Specialist at UAB. He’s the Head of Neurology there at one of the best diagnostic hospitals in the USA. He’s the one who gave the dx of Essential Myoclonus. But now I’m not jerking and almost too weak to walk.

I also have an Endocrinologist appointment next month. So I’ll see him, if the liver biopsies come back as normal, to check for thyroid problems.

Dr. House, Where ARE you???????

Please keep us and my doctors in your prayers. We need an answer.

Posted in Tests | Tagged Drug Induced Liver Disease, Endocrinologist, Essential Myoclonus, Fatty Liver Disease, Gastroenterologist, jerks, liver biopsy, liver enzymes, Movement Disorder, pain, prayer, thyroid | 7 Replies

40 Blogs to Follow for Parkinson’s Awareness Month

Day by Day with a Movement Disorder Posted on April 20, 2011 by DBApril 20, 2011 2

We’ve been included in another site’s list of top Parkinson’s blogs! I feel very humbled to be recognized in such an article. Each blog has a short description of its content and focus and would be an invaluable aid to a caregiver, newly diagnosed Parkie, or long time PD patient who needed to make contact with others who understand what living with Parkinson’s Disease can be like.

This blog is included, because my original diagnosis was Parkinson’s, and you’ll find many posts about my efforts to deal with those changes it made in my life. Also, I have accumulated a lot of resource links on the side bar dealing with all kinds of Movement Disorder related issues.

I think back on my early frustration at how few places there were on the Internet to get a glimpse of what it was like to live with Parkinson’s Disease. I decided then that I would try to keep that from happening to the next person who tried to get a personal view of living with Parkinson’s. Now I read about all these great blogs available, and it makes me glad that I have had a small part in helping people understand not only the physical, but the emotional and mental side of being a person with a Movement Disorder.

Posted in Uncategorized | Tagged Movement Disorder, Parkinson's, Quality of Life, Top 40 Blogs | 2 Replies

Disk & Muscle Spasms Rear Their Ugly Head

Day by Day with a Movement Disorder Posted on March 26, 2011 by DBMay 17, 2016 2

For the first time in quite a few years, I’ve been having real problems with my neck and back for the last couple of weeks. It seems to get worse as the day progresses, so by the afternoon and particularly at night I’m really not comfortable at all.

I’ve tried Tylenol and Aleve, but I can’t even tell I’m taking them. I’ve also been having constipation problems again, so I’ve been reluctant to ask one of my doctors for a powerful pain med, knowing strong pain meds would just make the constipation worse.

I’ve been thinking the pain spasms would clear up on their own if I gave it some time. I’ve tried to keep moving my neck and shoulders as much as I can, used the hot pad, and have been using the inflatable neck brace for a short time each morning. It’s way too uncomfortable to use it for very long, but it’s extremely adjustable, and I have all the Velcro sections pretty well suited to my short neck. After I put it on I pump up the bladder in it and it gives a little traction. That helps for awhile, but it’s way too painful to use it after the spasms take over later on in the day.

The human adult head weighs about 10 pounds, and the neck and shoulder muscles have to be strong enough to carry that weight around in all kinds of positions all day long. Just imagine how long your arm would last without fatigue and pain if you were to lift a 10 pound bag of potatoes for 12 straight hours! Normally, our bodies are so wonderfully made that we don’t give it a second thought.

But I have Degenerative Disk Disease and Osteopenia, which means my disks and bones are not as healthy as they should be. I’ve had bulging disks in my neck and lower back for many, many years. So I guess I was overdue for a round of pain with one or the other. This time it’s the Cervical disk that seems to be the focus.

I’m not sure, but the Myoclonus may be making the spasms worse. I was in quite a quandary as to which doctor I should go see, my Neurologist or my Orthopedist. The trigger points seem to be on the right side, not near my left shoulder that does all the jerking, so I’ve decided the Orthopedist makes more sense.

So, it looks like I will be making an appointment with my Orthopedist next week.

Posted in Symptoms | Tagged constipation, Degenerative Disk Disease, Essential Myoclonus, herniated disk, Movement Disorder, muscle spasms, Neurologist, Orthopedist, Osteopenia, pain, Quality of Life, side effects | 2 Replies

So How Common Are Myoclonus and Dystonia?

Day by Day with a Movement Disorder Posted on February 13, 2011 by DBMay 17, 2016 12

I had an interesting conversation today after church with the lady who happened to be sitting behind me. She asked me if I was sick, but I knew what she was referring to, so I told her about having uncontrollable jerks and apologized for disturbing her worship. She, of course, said not to worry, but asked what I had. When I told her I had a form of Myoclonus, she told me she had Dystonia! What are the odds of two people sitting that close to each other in a little country church, both with relatively rare Neurological Disorders!!

I tried to do some research to find out just how common these two Neurological Disorders are in the USA, but only found one site that gave a number I actually could understand. Most sites were comparing percentages in different populations all over the world. The WrongDiagnosis.com site listed both Myoclonus and Dystonia as being classified in the USA as Rare Diseases according to the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH), which means no more than 200,000 people have been diagnosed with each of these Movement Disorders in the whole US. There are only about 2,000 people in our town!

I don’t know if she grew up in this town or not, but we’ve only lived here as adults. I do have very serious Neurological diseases in my family history, and I would be very interested in finding out if she does, as well. My interest in where she grew up stems from the fact that our town had at one time the worst EPA rated toxic site in the state!!!

Even though we don’t have the same Disorder (I choose NOT to think of it as a disease!), having someone else I actually know who battles some of the same demons I do was quite a surprise. I look forward to more conversations with her in the future.

So, exactly what is Dystonia, and how is it different from Myoclonus?

The best place on the internet to learn about Neurological Disorders is We Move. They have a forum with sections for each disorder, and I have found the encouragement of other people who comment there who battle Myoclonus to be very helpful and comforting.

This is the overview on We Move of Dystonia:

“Dystonia is a neurologic movement disorder characterized by sustained muscle contractions, usually producing twisting and repetitive movements or abnormal postures or positions. Almost all dystonic movements share a directional quality that is typically sustained, sometimes for an instant, as well as a consistency and predictability Dystonia movements are directional, forcing the involved body part or region into an abnormal position, which is consistently present.”

Put in simple terms, various muscle groups contort in some way and tend to stay that way.

If you saw the TV show “The Doctors” here in the US this week you saw a young woman who had a severe case of Dystonia who was helped tremendously by DBS (Deep Brain Stimulation) brain surgery.

Myoclonus is defined this way:

“The term myoclonus comes from the Greek words for muscle (myo) and tumult (clonus) and refers to sudden, brief, shock-like movements. These movements may be “positive” or “negative.” Positive myoclonus results in contraction of a muscle or multiple muscles. In asterixis, or negative myoclonus, there is a brief loss of muscle tone and then the tightening (contraction) of other muscles; this results in a flapping-type motion. These movements, which cannot by stopped at will (nonsuppressible), often have a characteristic saw-tooth pattern, and they usually disappear during sleep.”

So Myoclonus involves various types of jerking or flapping motions.

Posted in Symptoms | Tagged contracting, Dystonia, Essential Myoclonus, God, jerks, Movement Disorder, myoclonus, Neurological Disease, prevalence, We Move | 12 Replies

Great News about my Diabetes!!

Day by Day with a Movement Disorder Posted on December 18, 2010 by DBOctober 22, 2019 2

My doctor is very proud of me for having an A1C of 5.5 two times in a row. That means for the last 8 months I’ve had a better sugar level than most people without diabetes! He actually said I was no longer Diabetic, and he halved my Metformin dosage. To say the least I’ve been celebrating this week, and with Christmas right around the corner I’m sure I’ll indulge more than I did last Christmas! After that, I’ll have to go back to eating more properly and checking my blood glucose levels, but for right now…we’re just celebrating.

I could never have lost and kept off the 60+ pounds over the last almost 2 years now if it hadn’t been for my dear sweet hubby, who does the grocery shopping and cooking. He’s read everything he could get his hands on ever since I was originally diagnosed with Parkinson’s way back in 2005 to be sure I eat the very best possible diet of high antioxidant Super Foods, as have I. And he checked Nutrition labels on every processed food he bought for the last 2+ years for sugar and carbs. I was determined to beat the Diabetes, if at all possible, but I wouldn’t have done it without his considerable help. And we wanted to alleviate the Movement Disorder symptoms as much as possible, too.

So here’s a great big {{{{HUG}}} to the love of my life!

As for the jerks of my current diagnosis – Essential Myoclonus, the news isn’t as good, but maybe I’m doing better than I was. The Depakote plus Primidone combination seems to work a little better than the Neurontin plus Primidone did. It just doesn’t take much to break through and send my shoulder into a jerking fit. The least bit of stress, and it can go on for what seems like hours. Like at the dentist the other day. I jerked in the chair the whole time he did a filling. I like my dentist, but I have childhood memories that have left me dealing with high stress every time I go. I’m better than I used to be, but all the jerking reminds me of how deep seated this fear is.

So hubby and I are celebrating our 50th Christmas together (if you count the years we dated or were engaged), with our family in good health. We are very thankful to God for seeing us through some rough times, but I have faith that times are going to get better.

I pray you and your family will know the Spirit of Christ during this Christmas season.

Posted in Nutrition | Tagged Christmas, Depakote, diabetes, diet, family, God, jerks, Metformin, Movement Disorder, nutrition, Primidone, Super Foods | 2 Replies

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