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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!

Tag Archives: myoclonus

Still on LCHF Lifestyle – Still Dealing with MITO

Day by Day with a Movement Disorder Posted on February 23, 2014 by DBMay 8, 2016 2

I’m continuing on with the Low Carb High Fat lifestyle and finding it very easy now to comply with the no grain, no below ground vegetables, and no legumes or beans other than green beans.

I’m using an easy to make dessert that satisfies my chocolate craving and a no wheat egg bread recipe that cooks in the microwave oven in less than 2 minutes. Those two recipes alone are probably responsible for keeping me on this diet.

My eyes are better, but still not back to normal. My eye doctor really doesn’t think the change in diet is at fault, as tears are made of lipids (fats), and I’m certainly getting plenty of good Medium Chain Triglycerides in the Coconut Oil I consume daily.

He would normally prescribe steroid drops at this point, or Restasis. But we’re both reluctant to do that, because of my Mitochondrial Myopathy. So he’s recommended hot compresses twice a day and massaging the lids with a water and baby shampoo solution. The hope is that my tear glands will start producing more tears due to the stimulation.

I am losing weight for sure, and I’ve only felt hunger a few times since I started this diet in earnest in mid January. The first couple of weeks in January were spent gradually changing over and using up the food that was already in the house.

The digestion issues resolved themselves, as I had hoped they would. I do take MiraLax every morning, but I’ve been doing that for many years. My digestive system muscles are weaker than normal, thanks to the MITO, so dealing with constipation is par for the course.

I did have an upsetting situation develop in church today. We’re having some kind of short in our sound system that has caused me to go into Myoclonic jerks the last few weeks. But it seemed like today there were more sudden high squeaks from the organ and more crackling sounds out of nowhere that just set me off. By the time the service was ending I was in full Myoclonus and crying. Everyone nearby came to find out if I was OK, but all I could tell them was that I was OK, but the genetic disorder I have makes me have a hyper startle reflex.

I really appreciate their concern, but it embarrasses me when I go into one of these “fits”. The more I try to stop the jerking, the worse they get. I just have to find a way to relax and wait them out. It’s been some time since I had this much trouble with the jerking, but the constant pain I’ve been in for months now probably contributes to my tolerance level for unexpected noise being way down low.

So I continue to have muscle issues and other odd problems caused or exacerbated by MITO, but I’m also working hard to find the right combination of diet and activity to maximize my quality of life. I have been reading every book on nutrition I can get my hands on for several years now and continue to do so. And I’m currently going to physical therapy twice a week, hoping to strengthen the muscles in my neck, back, and shoulders and alleviate my pain.

Posted in MITO, Nutrition | Tagged coconut oil, constipation, high fat, LCHF, low carbohydrates, MCT, medium chain triglycerides, Miralax, MITO, Mitochondrial Myopathy, myoclonus, nutrition, pain, Physical Therapy, startle reflex | 2 Replies

WORLD RARE DISEASE DAY is TODAY!!

Day by Day with a Movement Disorder Posted on February 29, 2012 by DBOctober 9, 2019  

TODAY is World Rare Disease Day!

As I was recently diagnosed with Mitochondrial Myopathy, I’ve been doing a lot of personal research trying to understand a disease I had never heard of until a few months ago. We have been told by the diagnosing Neuromuscular Specialist that there is currently no cure and no real treatment available.

The main symptoms that affect my Quality of Life are extreme muscle weakness and fatigue, but I also get Myoclonic jerks, I walk with an ataxic gait, and I have digestive problems, as well as memory issues. And I have Type II Diabetes that is under control with nutrition and weight control. Diabetes is another way that Mitochondrial Disease can manifest itself. In hindsight I suspect that my symptoms probably started showing up about 30 years ago.

One in 10 Americans is affected by a rare disease – that’s over 30 million people. That’s more than the total number of people living worldwide with cancer! There are more than 7,000 diseases classified as being rare, most of which affect children. I can’t even imagine how parents must react when they are told their precious little one has a rare disease – and learn that 30% of the children diagnosed with a rare disease will die by their 5th birthday.

Most of these rare diseases are genetic in origin. There are no cures for these diseases, and only about 5% of these diseases even have a treatment. Less than half of the Rare Diseases have any kind of foundation, advocacy group, or community support group, because many of these diseases affect fewer than 100 people.

My own disease falls under the scope of the Muscular Dystrophy Association, so  I do have knowledgeable people I can turn to for help. And online there is a the United Mitochondrial Disease Foundation, as well as MitoAction and several Facebook groups dealing with MITO diseases where I can go for information and support. You’ll find me on FB in the 250+ member Mito Adults group – just ask on the group to join, if it would be a good fit for you.

So what about all the families dealing with one of these 3,000 or so Rare Diseases who have no support group at all?

You can help them:

VISIT the R.A.R.E. Project site and learn more. DONATE to help with research if you can.

LIKE and share the Global Genes Project Facebook page with your FB friends and be one of the hoped for Million who show their support for families facing one of these rare diseases.

WEAR jeans today to increase awareness of the need for more research and funding for genetic diseases. Hopefully your workplace is involved in Jeans for Genes as a MitoAction fund-raising effort today. But if not, you can still donate to these causes.

 

Posted in MITO | Tagged diabetes, difficulty walking, digestion, fatigue, i Million for RARE, MDA, memory, MITO, MitoAction, Mitochondrial Myopathy, myoclonus, Rare Disease, UMDF, weakness, World Rare Disease Day | Leave a reply

Limbo Land is No Fun!

Day by Day with a Movement Disorder Posted on June 24, 2011 by DBMay 21, 2016 4

Well, the blood test came back normal, as did the Jolly test. I’m still having all the same weakness, gait problems, and hoarseness, though. From what I’ve been able to research on Google, neither of these tests is totally reliable, so I’m not ready to breathe a sigh of relief just yet.

I have asked that my Neuro refer me to a particular Endocrinologist, though, so maybe I can get an appointment with him next week. Well, I mean get the authority to make an appointment next week. No telling how long I’ll have to wait to actually SEE him.

Hubby and I are hoping I turn out to be Hypothyroid, as all my symptoms fit that disorder, and our daughter takes medication for it. All my thyroid tests were normal, but that doesn’t mean I don’t have a thyroid disorder. THAT would be easy to fix with medication, so we’re hoping that’s it.

I’ve all but quit jerking, too, even though I cut the Primidone from 3 at a time to 2 at a time, so I lowered it to one tablet morning and night yesterday, and I’m still not jerking. Very weird.

It sure would be nice and neat if medical tests were 100% accurate in every case, but this is real life. There are always exceptions.

Posted in Tests | Tagged balance, blood tests, difficulty walking, Essential Myoclonus, hoarseness, Hypothyroid, jerks, myoclonus, Primidone, thyroid, weakness | 4 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

A Tiny Half Pill

Day by Day with a Movement Disorder Posted on February 22, 2010 by DBMay 19, 2016 1

Well, I tried cutting back my Primidone by a half pill, and I couldn’t even get through one whole day without it. By evening my whole face was twitching all over the place, and it was getting really painful. My poor facial muscles were just worn plum out. So I took a whole pill extra an hour before bed and put the hot pad on my face, hoping it would calm down in time for me to get some sleep. That worked fairly well, but my face still ached for the next couple of days. So I guess I won’t be trying to cut the Primidone again. Such a tiny pill, but it packs a wallop, for sure.

Now I am gradually adding back my supplements to my pill box. I’m in no hurry, because I’m afraid something I was taking was responsible for this last bought of ulcerated stomach it took me so long to get over. So far so good with that experiment. I’m also going to try cutting back my Triavil by one less pill a day. That was the other medicine besides the Primidone that my Neurologist said could be responsible for my poor short term memory. It’s worth a try, anyway. I would like to feel like my brain was sharp again. It’s felt dull now so long that I have forgotten what it was like to really be on top of things.

I am pleased with how much I’ve been able to learn about the new WordPress site for our Lost Toys Search Service. We hired a programmer to do the bulk of the work, but I was able to do a good bit of the cosmetic work myself, while he worked on all the behind the scenes code that makes the site work. I could never have done this by myself, as it requires knowing another programming language. But I was able to study the code and get the gist of how it works, anyway. All and all I’m proud of how much I was able to learn. It meant putting in lots of hours, but I have the time and enjoy the challenge. Now he’s working on redoing our Plush Catalog, so that will be another learning curve to master.

And it’s time I started working on our income taxes, too. I do that on the computer, so at least I don’t have to do the math. So my brain is going to be getting quite a workout for the next few months. I need every alert brain cell I can muster!

Posted in Medicines and Supplements | Tagged brain fog, myoclonus, Primidone, stomach, tics, Triavil | 1 Reply

YARD SALE today!!

Day by Day with a Movement Disorder Posted on November 1, 2008 by DBMay 25, 2016 7

Well, I’ve worked myself ragged this week helping move things out to the garage for our big yard sale, and now comes the moment of truth! Did we set the prices too high? Are they too low?? Should be a fun day, with beautiful weather.

Once hubby decided it was time to have one he really got busy, and there’s no way I could have done this on my own. I’m pretty sore from helping to move furniture around, plus lots more walking and lifting than I have been used to. It’s been good for me, as long as I didn’t over do it. Only time will tell on that one.

We managed to get quite a few of the boxes from my parents’ house out there, so that will free up some space in the house. Anything to cut down on the clutter will make it easier to get the rest of the last couple of years accumulation of stuff under control. I just have not felt like cleaning, and poor hubby has been doing the best he could to take care of me and take care of the house. I won. House lost. I’m sure not complaining, as he has done all the laundry for years, fixes meals, and waits on me like I was a princess. He’s the love of my life, and no one could ask for a better helpmete.

We swapped out recliners, bringing my mother’s recliner in the house and putting mine in the yard sale. Hers is a much smaller frame chair and really opened up the living room. I’ve slept in that recliner for several years taking care of Mama and Daddy, so I know how comfortable it is. It was a chore to make the swap with such bulky furniture, but I am glad we did. That is as along as our backs don’t complain too much!

We went to the dentist this week for our regular cleaning appointment, and this was the first time I had been back since the new meds and new diagnosis. I was fine until the next day, when I woke up with a very sore jaw. The muscles on both sides were aching from keeping my mouth open so long. At one point yesterday the right side started up with spasms. It was weird, because it made my eyeglasses move! I yawned some big yawns and did some exaggerated mouth stretches and managed to get it to stop, but that was another first for me. I hate to think what it would have been like if I were not on the Primidone. I probably would have bitten her hand off right there in the dentist chair!!

I’m back to the early rising again, and the change from Daylight Savings Time tomorrow is going to play havoc with my sleep for awhile, too. I get a lot done in the wee hours of the morning, but it sure makes me sleepy early in the evening. I’m like a baby getting my days and nights mixed up. But no amount of just laying there will help me go back to sleep, so I might as well get something productive done with my time, right?

One other thought before I put this rambling post away. I made the signs for the Yard Sale, and was very pleased with the results. It’s amazing how steady my hand is now compared to the way it was before the Primidone. I took drafting for 3 years in high school and taught handwriting in elementary school, so neat printing is something I used to be very good at. I had reached the point that my handwriting was difficult to read, let alone pretty. But this week I was able to free hand draw the letters and then go over the lines with a Sharpie and keep the ink where I wanted it!!! It was a wonderful moment for me, because it says so much about how much I have improved over the last few months.

Well, I’ve rambled on – not too surprising considering I’ve been up since 2AM – but feeling really good about my accomplishments this week. It may take a year, but I am going to win out over this messy house!

Posted in Quality of Life | Tagged care giving, coordination, Daylight Savings Time, dentist, facial exercises, house cleaning, insomnia, muscle spasms, myoclonus, Primidone, Quality of Life, Yard Sale | 7 Replies

A NEW Name for My Blog

Day by Day with a Movement Disorder Posted on July 23, 2008 by DBMay 30, 2016  

I have been thinking about changing the name of this blog ever since I was told I did not have Parkinson’s. We were also told that the Peripheral Neuropathy diagnosis was either originally a wrong one, or my nerves had healed. Peripheral nerves can regenerate up to a point, so that may be what happened. Particularly since hubby and I have been doing everything we could to learn about the best foods and best choices among alternative medicines, vitamins, and minerals to assure that I am getting the optimum benefit from everything I put in my mouth.

So, when I started having trouble with Blogger this week, it looked like the ideal time to find a new name for my blog. Who knows what diagnosis they will come up with sometime in the future, so I finally settled on Day by Day with a Movement Disorder. It’s general enough to cover whatever the docs decide to call whatever I have if they change their minds again, and it opens the door for discussing not only the disorder that I have, but other similar disorders.

I have just recently been asked to explain Essential Myoclonus in more detail and also received a request to post something about Dystonia. So I can see that this name may be a good one. I sure hope so. It was not easy erasing that title, after looking at it so many dismal and glorious days. And it will take awhile to change over all the links, etc., that will have to be changed, including a new banner. But it does not all have to be done in one day, that’s for sure!!

Posted in Quality of Life | Tagged diagnosis, diet, Dystonia, Essential Myoclonus, Movement Disorder, myoclonus, nutrition | Leave a reply

GREAT NEWS!!! – My New Diagnosis Is ESSENTIAL MYOCLONUS!!

Day by Day with a Movement Disorder Posted on June 26, 2008 by DBMay 30, 2016 11

I finally got to talk to a nurse on Dr. Watt’s staff today, and I now have an official diagnosis that I can take to insurance companies. I do not have Parkinson’s, nor anything in the Parkinson’s Family. I have what is called Essential Myoclonus. It is not a progressive disease, which is the best news of all.

They do not know what causes it, but the Primidone is doing a remarkable job of controlling my movements. So I look forward to continued improvement and taking my life back! I asked if it would be OK to add an extra half tablet in the mornings, because the dose wears off in the afternoons, particularly if I am more physically active or stressed. She gave me the usual precautions about not using it if I became overly drowsy, be careful about driving, etc., but they are leaving the timing and use of the half tablet up to me. I am to start it in the mornings and then move closer to lunch if I want to try it there after a week or so.

I have been telling everyone about how wonderful I have been feeling since I went on the Primidone and how truly blessed by God I feel. I have strong emotional ties to lots of online Parkie friends, and I would only wish that they could have such good news from their doctors very soon. I guess I’m going to have to add another section for research about Myoclonus to my sidebar now, and come up with a better name for this blog. I have been very active in the Parkinson’s PatientLikeMe forum, but I imagine I will be spending more time in the Essential Myoclonus section of WeMove.com now.

I lived in their world for almost three years, so I have a perspective into what it is like to have Parkinson’s that most people can never have, unless they actually have the disease or are very close to someone with it. That is a valuable perspective that I do not want to squander. I’m not sure how God can use me in regards to this, but I’m sure in His good time it will become apparent.

I have tried to chronicle my journey from the very first days of the initial diagnosis of Parkinson’s, through all the struggles I had with my digestive system fighting against the PD meds, to modifying my lifestyle to keep me safe, to the onset of tremors that soon turned into horrible shaking. I’ve tried to present an accurate picture of what was happening to me emotionally, as well as physically.

I am proud of this blog and hope that it will continue to be helpful to those who read it. May God use me and this blog to good purpose.

Posted in Myoclonus | Tagged cure for Parkinson's Disease, diagnosis, Dr. Watts, Essential Myoclonus, God, hope, insurance, Movement Disorder, myoclonus, Parkies, PatientsLikeMe, PD Plus, Primidone, PWP, Quality of Life | 11 Replies

Primidone is HELPING!!

Day by Day with a Movement Disorder Posted on June 4, 2008 by DBMay 30, 2016 2

I’ve been trying to get to this post for several days now, and other things just kept getting in the way. Also, it looks like I have good news, and I didn’t want to celebrate too soon. The Primidone seems to be helping!!

I finally got in touch with Dr. Watts’ UAB Neurology team, and he sent in a prescription for Primidone on Friday a week ago. I took my first dose Friday night, and was pretty well looped all day Saturday, and almost as drugged feeling all day Sunday. But I was NOT jerking, and my hand was still! My walking was very odd, like I was on a boat or a dock. When I stood still I kind of wobbled, instead of shaking, as if it were slowing the speed of the movements down and increasing the amplitude, if that makes any sense. That lasted for several days, but then by about Wednesday I was only noticing the good effects. As long as the dose was in me, I did not shake, wobble, or tremor at all. Ignoring the slow walking, I was back to NORMAL! Even my handwriting improved. I was not depressed, but trying not to celebrate too soon, because the next step was to add a morning dose, and I wasn’t sure what was going to happen then.

I started taking a second dose in the morning as well on Monday. I do get a little woozy feeling for just a little while about an hour or two after I take it, but other than that, it seems to be helping a lot. I have a slight mouth twitch today, the third day I have had two doses, which I did not have Monday or Tuesday. But that is the only symptom other than the slow walking that I have! I do have to be more careful with steps – it’s like I can’t tell where my feet are.

I am not depressed at all with the Primidone, the way I was with the Clonazepam, and I am very hopeful that this medicine will work for me. I am still doing research on this medicine, but its brand name is Mysoline, and its primary use is in controlling seizures. They assured me that there were no signs of seizures from my tests, so this is what they call an off label use of the drug.

This medicine has a very long half life, and that means there is still plenty of the drug in my system when it is time to take the next dose. Actually, when I was taking just the one pill, I took it at 7:00PM and it did not completely wear off until four or five o’clock the next afternoon. I am also on the lowest dose, so there is room to go if I get used to the medicine and need to up the dosage.

Did you see me doing the happy dance????

I am so thankful to God for his tender mercies!!!!!!!!!!

Posted in Myoclonus | Tagged Bradykinesia, depression, difficulty walking, Dr. Watts, gait, God, Movement Disorder, muscle spasms, myoclonus, Mysoline, prayer, Primidone, Quality of Life, symptoms, Tardive Dyskinesia, tremors | 2 Replies

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