Category Archives: MITO

Acronym for Mitochondrial Disease

Very Busy Week

Day by Day with a Movement Disorder Posted on by 2

We had quite a week this week. With two Physical Therapy appointments, a Neurology appointment, a Podiatrist appointment, and a Hygienist appointment at the dentist, we’ve been very busy. And I’m really worn out. I’ll be sure to not let the appointments end up like that again.

We go to the dentist regularly, but I’ve always had trouble keeping my mouth open wide all that time. Now I understand why, as my jaw muscles simply fatigue so much that it’s very painful. And that has set my neck into spasms in the past. I sure didn’t want that to happen right now, as painful as my neck has become.

I found out a long time ago that I could deal with any lengthy dental work better if I asked for a bite block. That wedges my mouth open without me having keep it open myself. So this time I asked for the bite block when I got my teeth cleaned, and it helped a lot.

The Hygienist said my gums were bleeding more than usual. But that didn’t surprise me, since I’m now on a rather large dose of Coenzyme Q10. It acts like Warfarin, a blood thinner. So I guess the next time I have work done, I’ll need to stop the CoQ10 ahead of time.

The Physical Therapist is spending most of my time there trying to relax my neck, shoulder, and back muscles with moist heat and the TENS unit, as well as some wonderful massages and some neck traction. As far as “exercise” I spend time in between the heat and massage sessions just “sitting”. That doesn’t sound like exercise to you I’m sure. But for me to sit unsupported with less pain in a regular chair without the neck brace is really exercise, because my neck muscles have to hold up my head all on their own. It was easier to do today than last time. So the little home exercises he gave me to do, plus what he’s doing at therapy are already helping a little.

He set my TENS unit for my current needs and gave me a diagram of where my hubby will need to put the electrode pads. Hopefully that will mean I can use the TENS unit more and depend on the muscle relaxer and pain meds less.

So I continue to do what I can to improve my situation as much as possible.

First MITO Physical Therapy Session

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I had my first session with the Physical Therapist today since my Mitochondrial Myopathy diagnosis. I’ve been to this same PT facility many times over the years, starting back when we took my mother when she was recovering from a broken hip. She was in the full throes of Alzheimer’s at that time, and they were super kind and gentle with her. His staff have helped me personally in the past with neck pain and difficulty walking.

So I knew if I called ahead of time and asked the director to call me and discuss my diagnosis before my first appointment – I knew he would do that. He actually called me on a Saturday! He said he had had several patients over the years whose ultimate diagnosis turned out to be Mitochondrial Myopathy, but that he would catch up on the current thinking about how to help me. He seemed confident that he could improve my neck muscle strength and alleviate the referred back pain I’ve been experiencing for some months now.

He spent the better part of 2 hours with me, asking lots of questions, and I could tell that he had truly been doing considerable research about Mito. I also shared with him some of the information I have found from MitoAction, too. His overall message to me was that he could help, but everything would have to be done very simply and slowly, with only a few minimal exercises at a time.

I’m to see him again this week on Friday, and he gave me a few extremely simple exercises to do twice a day for just a few repetitions. After spending some time with a TENS unit set up at very low volume with a large heat wrap around my neck at the same time, he then did a slow and very careful massage of my neck and back.

I asked very specifically if a reasonable ultimate goal for me would be able to sit in a regular chair and then the church pew for the 2 hours that Sunday School and church require. I currently take a muscle relaxer and pain med before going to church on Sunday, and I use the padded neck brace from the time we leave our house until we ear lunch. It’s not considered safe to try to eat while in the brace, due to possible choking, besides the fact that it’s very awkward to try to do so. I’m pretty much wiped out and in pain for the rest of the day.

Right now our church sanctuary is being renovated, and I sit in a regular chair in Sunday School, but I’m sitting in a high back upholstered chair from the vestibule during the church service we now hold in our Fellowship Hall. I explained that to him, and that I had recently had occasion to sit in another church on a padded pew, wearing the neck brace, for about an hour and a half and was in severe pain by the time we left.

He did not think I would ever be able to sit without head support through both Sunday School and church, even after PT. So that means we’re going to have to make arrangements to get a wing back upholstered chair for my Sunday School classroom. Then hopefully I’ll be able to tolerate sitting in a pew for the worship service without being in so much pain.

I had hoped he would say that in time he could rehabilitate my neck so sitting would not be such a problem, but it doesn’t look like that’s going to happen. I’m glad he expects to be able to help me some. I’m thankful for that.

If you’ve read this far, I hope you’ve followed some of the links about World RARE Disease Day on Feb. 29th and found some way to spread the word about the need for more research funds. If you can donate – thank you!!

World Rare Disease Day in 30 Days!

Day by Day with a Movement Disorder Posted on by 4

Feb. 29, 2012 will be World Rare Disease Day, and I’m joining other bloggers to raise awareness about rare diseases.

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. Different sites include certain types of Mitochondrial Myopathy on their list of Rare Diseases. I don’t know if my type has been classified or not, but that’s on my list to ask about when I see my Neurologist. 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 on Feb. 29th to increase awareness of the need for more research and funding for genetic diseases. Encourage your co-workers to get involved in Jeans for Genes as a MitoAction fund-raising effort on Feb. 29th.

READ some of these blogs supporting World RARE Disease Day, many sharing what life is like with a rare disease.

 

Battling a Cold

Day by Day with a Movement Disorder Posted on by 4

I’ve been battling a doozie of a cold the last few weeks, the first one I’ve had in years. Knowing I have MITO I’ve been careful to watch for any bacterial infection. As long as it was just the cold virus there wasn’t any point in going to the doctor. We’ve kept the fluids going big time, and I’ve been depending on Thera Flu, Mucinex, and Robitussin cough syrup to deal with it. Until a couple of days ago, it did look like I was over the worst of it.

But yesterday I started coughing up blood streaked yellow mucus, and I knew that probably meant it had become a bacterial infection. So I saw my General Practitioner doctor today. We talked at length about Mitochondrial Myopathy, and I gave him a copy of the Table of Reported Drugs with Mitochondrial Toxicity from MitoAction. He asked me lots of questions and said he would be doing some research, too. I really like this doctor. I’ve been using him for years, and he is the perfect example of a doctor who makes me feel like I am the only patient in the office. I never feel rushed.

He prescribed a codeine cough syrup and an antibiotic Cpak, so I expect to be feeling better soon. This cold has really taken a lot out of me. That’s not surprising when you realize that my cells are working on low energy to fight it.

This doctor visit is a perfect example of why having a definite diagnosis is helpful, even if there is no treatment or cure. The doctor was able to go over the list of antibiotics I should avoid and choose an appropriate one for me to take.

Mitoland – A Guide for Mitochondrial Patients and Parents

Day by Day with a Movement Disorder Posted on by 6

I’ve been reading everything I can get my hands on about Mitochondrial Myopathy, and I’ve added several links to resources in the right sidebar. But the best lay explanation of what’s going on in Mitochondrial Diseases is a pdf from Cleveland Clinic called Mitoland.

I have the kind of Mitochondrial Disease that is caused by defects in the mtDNA, so it is 100% inherited from my mother. ALL mtDNA is inherited only from the mother. I’m an only child, but Mama would have inherited it from her mother, my grandmother. My mother was diagnosed with Parkinson’s at one point and was diagnosed with Alzheimer’s in later years. One of her brothers died of ALS, and her other brother died fairly young of a heart attack. Her mother, my great grandmother, died of cancer. I can’t help but wonder if all these family members on my mother’s side actually were exhibiting various manifestations of Mitochondrial Disease, as MITO is associated with all these diseases.

I’m sad to say that means I’ve passed some number of those defective mtDNA to our daughter, who has passed some number of them on to her three children. As I understand it, there’s no way to know how much of the defective mtDNA has been passed along from one generation to the next, as that depends on the mtDNA makeup of the particular egg cell that was fertilized at the moment of conception.

I Have Mitochondrial Myopathy

Day by Day with a Movement Disorder Posted on by 2

Diagnosis!

I finally got the results of the muscle biopsy I had back on Dec. 8, 2011! The Neuromuscular Specialist from UAB told us that I had a significant number of ragged red fibers in my muscle tissue, with a diagnosis of Mitochondrial Myopathy. He had suspected that, based on the level of muscle weakness I have, plus my complete medical history and family history.

The muscle biopsy site is now healed, with a good size cavity in my upper arm. I had no idea he would take such a large section of muscle tissue out. But this test is the only way to know for sure if I had MITO or not. It’s a good thing I don’t wear sleeveless outfits, as it’s really quite ugly.

Mitochondrial Myopathy

Mitochondrial Myopathy is classified as a Rare Disease by the National Institute of Health, affecting about 1 in 5,000 people. The Mitochondria are found in all human cells except for mature red blood cells. They are the engines that provide energy to the cells to function properly. When they are defective in some way the cells cannot properly use the food fuel to provide that energy needed for normal cell activity.

Exactly how this disease affects a person depends on which type of cells are most significantly affected by mutated Mitochondrial DNA. I was born with this disease, and the doctor says the mutations have been building up in my body my whole life. Now I have accumulated a significant number of muscular tissue cells with defective Mitochondria. So my symptoms have finally progressed to a point that it was possible to make an accurate diagnosis, confirmed by the muscle biopsy.

Adult onset MITO is not a life threatening disease. We are extremely thankful for that. It certainly does affect my quality of life, however. The specialist does not think I will ever end up in a wheelchair, which is wonderful news. There is no cure and no real treatment, however. That’s the bad news.

No Treatment?

There are some vitamins and cofactors I can try taking. But I’ll basically have to experiment on myself to see which ones, if any, will possibly give me more energy. He suggested I try Coenzyme-Q10, so I started taking it last night. Antioxidants may also be helpful. I had stopped taking all but the most essential meds and supplements early in 2011. That’s when my liver enzymes were first elevated and the weakness became pronounced. Now that we know what I have, I plan to start taking Turmeric, Vitamin E, Omega 3, and Lutein again, as well as the CoQ10. I already eat a diet rich in green leafy vegetables, nuts, and fruits. We consciously eat high quality proteins and limited complex carbohydrates. These are all recommended for Diabetics and people with neurological disorders.

Mitochondrial Myopathy Plan of Action

When I see my own Neurologist next time I’ll probably ask for a prescription for Physical Therapy again. They can help me build up a safe exercise routine based on this diagnosis. In the mean time I’ll try to increase my activity level VERY gradually.

I’ve joined the United Mitochondrial Disease Foundation, MitoAction, and the Muscular Dystrophy Association. And I’m studying all the information on this disease they provide.

So I feel like I’m developing a plan of action. And I have hope that I will be able to slow the progression of this disease with supplements and good nutrition. I’m thankful to God for our close proximity to such a world renowned research hospital as UAB and for the specialists there. Waiting so long to get these test results has been extremely hard on both of us. But now we have an enemy with a name. And we can deal with my Mitochondrial Myopathy emotionally and physically.

Test Results??

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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.

Still NO Test Results!

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Our patience has grown very thin, but there’s not much we can do about it. I went through 3 hours of neurological tests week before last, and we still haven’t heard back from the doctor. I was already having misgivings that the doctor and I had a language barrier. So this isn’t making me any more comfortable with him.

Plus, I don’t lie flat well at all. I sleep in a recliner and have for years, so that 3 hour stint flat on the exam table, under so much stress and tension, has my neck dealing me fits. I’ve been using my TENS machine and the hot pad, plus I keep a soft neck support around my neck while I am sitting. I’ve taken more pain meds in the last week than I have in a very long time. That is very ironic, since the UAB doctor kept asking me where I was hurting…and I kept telling him I wasn’t. HUH! Now I AM!!

I do have an appointment with my own Neuro next week. Unless we hear something soon, he’s going to get an earful from us about the UAB doctor!

As for my current situation – it’s very difficult for me to walk – very slow and labored, and sitting without a neck support gets very painful. I end up propping my chin up with my arm…fist under my chin.