Tag Archives: Mitochondrial Myopathy

Mitochondrial Disease Treatment in Phase 3 Trial

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Elamipretide

No telling how many years away from availability this is, but it seems a mitochondrial disease treatment called Elamipretide may eventually be a treatment for Mitochondrial Myopathy. As old as I am now I can’t imagine this would be much help to me. Natural aging on top of inefficient mitochondria have taken their toll on my body. I am old, and I feel old. But it’s exciting to think that the day may come in my lifetime there will be help those younger folks who struggle with this rare disease.

Read all about Elamipretide research and progress on Mitochondrial Disease News.

Phase 3 Trial is a Big Deal

Scientists test possible drug treatments on animals before getting to human trials. Human drug trials generally go through three stages. Phase 1 trials mainly want to be sure the new treatment being tested won’t harm healthy people. They track side effects compared to dosages. People volunteer and are often paid to be test subjects for Phase 1 trials. Phase 2 involves testing actual patients to see if it works or not. And of course they are on the lookout for bad side effects, even if the drug does what it in intended to do. That means any time a treatment protocol makes it through Phase 3, there is reason for optimism. Elamipretide is currently nearing the end of its Phase 3 Clinical trial.

And it seems to be actually helping the mitochondria work better. Its like “glue” that makes better connections during the chemical reaction chain that creates energy in the mitochondria. The heart muscle is illustrated in this drawing, but my problem mitochondria are in my skeletal muscles.

Clinical Trial Process is Expensive

If you read more about the whole clinical trial process, it’s not hard to see why drug research is so very expensive. Yes, we all want medicines to be cheap and easily affordable for everyone. But pharmaceutical companies will never get rich developing treatments for what are called “Rare Diseases”. It is not cost effective to do the R&D for a drug that only a few thousand people will ever need. So they have to charge more for the every day variety of meds, like for diabetes. That’s just being financially realistic. The pharmaceutical company normally applies for Orphan Drug classification for any rare diseaae research they undertake. The government provides tax incentives and a longer time as a copyrighted drug than normal medicines. And that’s meant to stimulate more research for rare disease treatments.

Ethical Drug Pricing

The problem comes when Big Pharma gets just plain greedy. They charge for the more common drugs at extravagantly elevated prices. These prices are far out of proportion to what they need to make their share holders profits. We’ve seen this happen with Insulin.

So those of us who live with one of the rare mitochondrial diseases hope for the day when a clinical trial results in a mitochondrial disease treatment protocol. We also know that such a treatment will not be cheap. And we have to face the fact that other medicines will cost more to offset the research and development costs over years of efforts to achieve that treatment.

I look forward to reading your comments!

Cold Intolerance

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I have had a problem with extreme cold intolerance for years. We bought The Energy Blueprint* program to learn strategies to increase my mitochondrial energy. The doctors told me in 2011, when I was diagnosed with Mitochondrial Myopathy, that there was no treatment and no cure. My Neurologist suggested several supplements that might help, and I’ve been on them for years. But I’ve continued to have very low energy and poor muscle strength all those years, too.

I’m ecstatic that I am seeing so much improvement in my energy level and cold intolerance now that I’ve implemented just some of the EB strategies!

Sunbathing and Sauna

The most surprising lifestyle change I’ve made is to start sunbathing at midday! So my normal habit has been to wear a long sleeve jacket year round – in the air conditioned house and outside of the house. That was even in the Alabama Summers! I was miserable all Winter.

So this pasty white old lady bought a bathing suit. I started to lay out in the sun super slowly – maybe a minute to a side to start with. It took a while to work up to the 30 minutes I can now enjoy. And, just as the program explained, it has given me a tremendous amount of energy. And, for the first time in my life, I have a tan! Someone at church complimented me on wearing makeup (I do not). I laughed when I told her it was my tan.

When sunbathing is not possible, thanks to the weather, I have a DIY sauna setup in the bathroom. I use three RubyLux 850nm infra-red bulbs and a small ceramic heater. It doesn’t help with my tan, but it is supposed to be energizing. The process is called photobiomodulation. The heat feels great, although I’m building up gradually. I sure don’t want to get burned. I’ve worked up to about 15 minutes a day. I don’t sweat, even though the room gets up in the 80’s, and I exercise some while in there. Ideally the room should be much hotter, but it’s make-shift at best. Sweating is one of the ways to get toxins out of the body. So I’m hoping with time I will start sweating again and get more benefits.

Cold Intolerance

I wasn’t expecting to see a difference in my cold intolerance, but I’m making progress. I don’t have to bundle up with a blanket all the way to my chin to sit through church every time any more. Oh I still wear thermal underwear and double socks for church. But now I usually only drape the blanket across my legs to block the draft under the pews.

It remains to be seen how I do during the cold Winter weather. I am still walking in the mornings, if it’s not raining. Previously I would never have even considered being outside in 60° weather for any longer than absolutely necessary. I was always in a hurry to get to and from the car. Now I can walk about a quarter mile, even in the cold air. That’s a gigantic improvement for me.

I continue to praise God for His healing Hand, for leading us to this program, and for the wonderful joy of feeling better! And I hope to continue learning more ways to improve my quality of life.

CT Scan and Allergy Testing

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CT Scan

I saw my new ENT Thursday. He has read through the reports from my old ENT. And he wants me to have another head CT scan to see what my sinuses look like now. Last one was in October, before I had the FESS sinus surgery. As soon as insurance approves, I will have the CT scan and allergy testing.

Allergy Testing

He thinks I’m still dealing with infection, as well as allergies. So he scheduled me to have allergy testing in two weeks. He took me off of all antibiotics, steroids, and antihistamines until after the allergy testing. It took just one day for my tear duct to puff back up when I stopped the antibiotic eye drops. It’s not painfully hard the way it was, but it’s noticeably swollen. And that means a lot of my tears are coming out of the eye, instead down into my nose.

Praying No More Surgery

He also mentioned the possibility of having Balloon Sinuplasty done. Hopefully the CT scan will not indicate a need for that. I didn’t tell him just how much I’m hoping I don’t have anything else like surgery done. The thought really scares me, considering how gross the recovery was for the FESS surgery. No need to say anything until the CT scan results are back. But of course I’ve been researching the Balloon Sinuplasty surgery.

I’m praying that dealing with my allergies will be sufficient to stop this long term sinus problem. I’ve been plagued with thick post nasal drip for well over a year now. I’ve been hoarse from all the drainage for months. And really, I’ve had sinus infections that were hard to get rid of for many years. That’s part of the reason why I’ve been sleeping in a recliner for many, many years. Between my lower back, my neck, and my sinuses – lying flat is just not an option for me.

Sneezing

I sneezed so hard and so many times a few days ago that I’ve aggravated my neck. The fused vertebrae really are complaining about the whiplash effect of those hard sneezes. So I’ve been taking Goody Powders until lunch time and Methacarbamol muscle relaxer later in the day. I’m also sleeping on a hot pad again. And when I have enough warning, I’m holding the back of my neck when I sneeze.

MITO?

It’s always hard to know what, if any, of my medical issues are MITO related. I do know for sure that it took my mucous membranes longer to heal properly from the FESS surgery. And I know that when I don’t feel well I REALLY don’t feel well. Everything seems to hit me harder than most people. I’m what people used to call “puny”.

So I’ll put up with the worsened allergy symptoms while I flush all the meds out of my system. If I’m not clear of antihistamines, antibiotics, and steroids when I have the allergy testing done – the results won’t be accurate. I’ll do what I can to keep my sinuses clear with the neti pot, and I’ll continue to pray for healing.

God is the true Healer – doctors only work for Him!

 

Physical Therapy Helped a LOT

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I went to Physical Therapy three times a week for six weeks, and the exercise has made a huge difference for me. I thought they were going to kill me at first. It took a few sessions for them to appreciate that they could not push me the way they would most people.

Exercise Intolerance

Exercise intolerance is a common symptom with Mitochondrial Myopathy, and I sure have it! My muscles were so fatigued the first couple of sessions that it was all I could do to walk out of the place, even with a quad cane.

Circuit Training

So they cut back on the number of repetitions and rotated me through a wider variety of exercises. That way each muscle group had a chance to recuperate before being challenged again. We finally worked out a circuit of squats, knee lifts, leg raises, and such in sets of ten. I never did get to where I could handle more than two circuits of ten, but that was SO much better than when I started.

Adapted Exercises

I found out pretty quickly that the lying down exercises, particularly the bridge, aggravated my neck. (One of the fusion screws from my surgery last year never did completely fuse bone to bone.) So they helped me find substitutes that could all be done either sitting or standing.

We have a safety bar along one wall in the bathroom, so it’s very easy for me to do all the standing ones there. And there’s a sturdy chair in the bedroom just perfect for the sitting exercises.

Staying Motivated

That means there’s only one obstacle now to improved mobility – ME!!

The challenging part is making myself continue with the physical therapy here at the house. I pray that I can stay motivated this time, since I’m so pleased with the results!!!

Tizanidine plus Physical Therapy

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My Neuro is trying me on Tizanidine (Zanaflex) for my muscle cramps. He also prescribed physical therapy to help me build up my leg and core muscles again. This med is a short life drug meant to temporarily relieve the spasticity of Multiple Sclerosis patients. So, like every other drug he has tried for me, this is another off label drug. There are no meds that are designed to treat Mitochondrial Myopathy. So he prescribes meds created for other diseases and disorders that involve muscle spasms or seizures.

Tizanidine

I’ve only had a few doses so far, but I can tell it takes about an hour to take effect and works for maybe 5 or 6 hours. Of course he has me on the lowest possible dose right now, with the prescription providing for three times a day if I need it. I’ve used it the last two nights to help me get to sleep. That’s when the cramps are the worst, because my mind is not occupied with anything else to distract me from the pain.

Physical Therapy

Yesterday was my first time to go to PT since I went last year after my cervical fusion surgery. It’s the first time I’ve had therapy for my legs in many years. And I’m the first client with Mitochondrial Myopathy this physical therapist has ever worked with. She found out very quickly just how weak I’ve gotten. I don’t think she was prepared for how easily I fatigue to the point of jerking and twitching. So she plans on alternating working on my core and leg strength to keep me from losing control of my muscles so quickly.

I have been trying to exercise here at the house more and more each day, but I am obviously still very weak. I’m much better than I was after trying to use Clonazepam. But I’m not self disciplined enough to make myself exercise as much as I need to. It’s just too easy to sit, since I don’t notice the cramps as much when I’m busy on the computer. So I am confident that having someone make me work harder than I want to is going to be good for me.

And I can only hope that the Tizanidine helps with the muscle spasms. Time will tell.

Back to Methocarbamol – Not as Weak – Still in Pain

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I’m finally completely off the Clonazepam and back on the Methocarbamol and Neurontin. And I have a Neuro appointment in June. I had hopes that the time off the meds, while I tried Clonazepam, would make them effective again – but no such luck. They take the edge of the pain, but don’t really stop it. But I’m not as weak as I was at my worst on the Clonazepam at least.

Sinus Infection

I’ve had a bout of sinus infection that caused one side of my face to ache like a toothache. In fact I actually went to the dentist, thinking I had cracked a tooth clenching my teeth in my sleep while I was still on the benzo. The x-rays showed it was more likely a sinus infection. So my doctor put me on an antibiotic. He also told me to stop using the regular OTC sinus medicine I’ve been using, as my blood pressure was way to high. He said to be sure I buy a brand that has HBP on the label, and we bought some on the way home from the doctor.

Antibiotics usually give me digestive problems, but this time it hit as nausea and vomiting. I ended up having to get the doctor to call in something for that. So I haven’t really had what you could call a normal week yet since being back on my old meds. I can still hope that the pain level will subside.

Muscle Pain

It’s hard to describe these pains – I call them traveling pains, for lack of a better term for them. I will ache in one place, say my shin, for 10 or 15 minutes, rub it for a bit  or use a hot pad on it, then it subsides and within a few minutes my other leg hurts in the calf. Repeating the rubbing and heat, and the next thing I know it’s my neck that’s hurting. A few more minutes and my arm hurts. This goes on all day long and all night long. In the daytime, as long as my mind is occupied, such as when I’m working on the computer, it usually doesn’t take over my awareness. But let me get still, like at church? It’s NOT comfortable. The same thing at night – I don’t sleep well, waking up off and on all night long trying to get comfortable.

The odd thing is, I remember waking up during the night screaming as a young child, begging for my Mama or Grandmother to rub my legs. They called it growing pains back then, but now I wonder if I wasn’t already having MITO symptoms.

My Last Clonazepam

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Well, I “slept” without the Clonazepam last night. It wasn’t good sleep, by any means, as I have no idea how many times I woke up and waited to go back to sleep for a bit – but I made it through.

Of course, because of the long half-life of this benzo, I still have some of that last .25mg pill from Thursday night in my system. It will take the rest of the weekend before I dare try going back to my old meds – Methacarbamol and Neurontin. I have called for a Neuro appointment, but no telling how long it will be before I can actually see him.

Maybe this couple of months off my usual meds will make them work better for me again. I had been gradually increasing the doses to the maximum, because they were no longer helping with the muscle spasms and pain. And the high doses were making the brain fog worse. That’s why I had asked for a med change, and how I came to be back trying Clonazepam.

I decided to look back through all my blog posts for every mention of Clonazepam, as I had been on it once before, back near the beginning of this saga. At that time I was on Parkinson’s meds, and the extreme muscle weakness I experienced was attributed to the combination of meds. Now I know that’s probably not the case. The wet noodle muscle weakness I described back then is exactly how I’m feeling now.

Asking for Help Doesn’t Come Easy

DH has done his best to take up the slack here at home, helping with things I would normally do quite easily. I had gotten very frustrated with him, because he wasn’t helping. But he’s not a mind reader, and I hadn’t actually asked him for help. So we had a “come to meetin’ talk” the other night. Now the air has been cleared, and I’m getting more help. I still have to remind him, as he had gotten in the habit of letting me do a lot of stuff he once would have done automatically. His paralyzed leg and slow recovery from his heart attack changed both our roles considerably. But for now, I’m more in need of help than he is. And I’m getting it, sometimes after asking, sometimes without asking.

I did ask DH to bring the walker back upstairs, but I’m resisting using it, just as I did years ago. My DD fussed at me yesterday when she saw how slow and shuffling my gait has gotten, saying I needed to get over my pride and go back to using it. I know she’s right, but it’s a hard change to make. It feels like defeat. And in my mind it’s so much more VISIBLE than my gait – it makes me conspicuous, and that’s something I am NOT comfortable with.

This whole process of slowly going off one set of meds, then slowly going on another med, slowly increasing the dosage, then slowly cutting the dosage back to nothing has taken a couple of months. It’s the only safe way to transition from such powerful chemicals, and it’s the only way to find out if something different will help any more than what I was already on.

So I continue being a clinical trial of one, basically using myself as a guinea pig, praying each time that something will work to improve my quality of life.

Clonazepam Is NOT for Me

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Titrating Off Clonazepam

Last time I wrote I was still slowly ramping up the Clonazepam dosage, hoping to get some pain relief and help with my hyper emotions. Well, it did calm down the startle reflex and extreme frustration and irritability I was experiencing, but it did NOT help with the muscle spasms. In fact it made my muscles so weak that I’ve been doing a lot of shuffling of late, either because I could not lift my feet, or due to the fear I would fall again, if I did pick up my foot in mid spasm.

So now I am working on titrating back off of the Clonazepam. Even when I was up to three .5mg  pills a day, I did not get any pain relief, so it just wasn’t worth it.

I’m down to .5mg at night, but not taking any during the day. Yesterday was horrible, with legs so weak and painful it was all I could do to get up from the chair, but today is better.

I don’t plan on going back on the Methocarbamol and Neurontin until I’ve given plenty of time for the Clonazepam to be out of my system. They didn’t help much, and made the brain fog worse, but it looks like they are still the best meds I have available. The half life of this benzo compound is like 60 hours, so it takes a looooong time to rid the system of it completely. That long half life is great for smoothing out anxiety issues, not so great when it makes the muscle weakness worse.

Another Diagnosis Anniversary

Another birthday has come and gone, making this my 10th year with some kind of movement disorder diagnosis, not counting all those years when doctors dismissed me as just a whiny hypochondriac female LOL. Initially it was thought to be Parkinson’s, but was eventually conclusively diagnosed as Mitochondrial Myopathy.

I’m basically my own doctor at this point. No new research findings in the years I’ve known what was wrong, so it’s left to me to try various nutrition programs and what I think might be helpful in the way of meds – with my Neuro’s approval, of course.

At my last appointment, my Neurologist broached the subject of me eventually being fitted with some kind of AFO braces to support my legs better, as my age is beginning to work against me. Exercise intolerance is one of the hallmarks of this disease, so I have to strike a balance between not moving enough (trying to keep from hurting) and moving too much (which damages muscle cells and does more harm than good).

So I thank God for the better day I’m having today, and continue to do what I can to improve my quality of life.

Praising God, from whom all blessing flow!!!

Still a lot of Pain

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So far I can’t say the low dose Clonazepam, plus Methocarbamol has made a dent in the pain I’m having from constant muscle spasms. I spend most evenings wrapped up in a hot pad, moving it from place to place, trying to calm my muscles. I can manage to stay busy enough during the day to ignore it up to a point, but once I get still, I realize just how much “inside” muscle movement goes on constantly. No wonder I’m so tired by night time – I’ve literally been “moving” every minute of the day.

Being still at church makes me more aware of all the spasms, too. Plus, no matter how much I bundle up there, I’m always cold. And cold is something I don’t handle well at all. I wear thermal undies year round for church – AC and drafty heat both cause issues.

Care Giving Ended

Our short stent as Nursing Home Sponsors didn’t last but a few days – he wouldn’t stay, no matter how much better off he would have been if he had. I’ve called him a couple of times to check on him, but can’t stop worrying about him. That whole situation took quite a toll on my emotions – far more than the tiny Clonazepam pill could handle. I know it’s just a matter of time before he ends up back in the hospital. Learning from past experiences with our parents and daughter, I have his “hospital bag” all ready to go. LOL We’ve done all we can for him at this point, except for prayer – and God gets a lot of that every day, searching for insight on the right way to deal with him.

Need to Vent

I wasn’t supposed to see my Neuro again for 6 months, but at this point I will probably give in and call for an earlier appointment. It’s just hard to accept that there’s nothing they can do to help me feel better – no matter how many times I remind myself there is no treatment or cure for Mitochondrial Myopathy.

There are so many people in the world living with horrible medical and emotional situations, I feel ashamed of myself for whining. But it’s just one of those kinds of days, and I need to vent. I originally started this blog because I couldn’t find anyone talking about what it was really like living with a movement disorder. Oh, there’s plenty of medical information out there, but what it’s like to LIVE this way? Not so much about quality of life. So if I gloss over the bad days, I’m defeating the whole purpose of writing.

I thank you for your time to follow my blog and covet your prayers, both for us and for this cantankerous old man we’re trying to help.

Praise God for all His Blessings!!

Emotions and Muscle Spasms Stronger

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I’ve been having problems with acute emotional reactions for several months now – sometimes extremely nervous and very easily startled. Loud noises are especially uncomfortable – almost like I have super hearing. I had a lot of emotional lability (more recently called Pseudobulbar affect) years ago, when I was wrongly diagnosed with Parkinson’s.

For the last few years I’ve been living off of Methocarbamol muscle relaxers and Neurontin for nerve pain, and taking a large number of supplements in an effort to keep my nutrition level as high as possible.  But it was taking higher and higher doses of muscle relaxers to get any relief, and the shoulder jerking had even come back. So I asked my Neurologist to try something different.

Since I was experiencing heightened emotional responses, as well as more and stronger muscle spasms, he put me on a low dose of Clonazepam – an anti-anxiety med that is also used off label to calm muscle spasms. I started on the lowest dose, but now I’ve bumped it up a bit. It does seem to be taking the edge off the startle reflex and inappropriate nervous reactions, but the muscle spasms continued to worsen.

Trying Clonazepam

Several weeks ago my calf muscle cramped hard just as I put weight on that foot, and down I went, falling flat on my face. I was very lucky to only have a few bruises. The leg continued to jerk fiercely for several days, so I had to be extremely careful to not take a step without holding onto something. I called the Neuro’s nurse, and he added the Methocarbamol back with the Clonazepam.

I’m still spasming more than I was for a while, so I spend most evenings on the hot pad trying to relax the muscles.

I’m extremely thankful that I had already asked for more help from my Neurologist and there had been time to bump the Clonazepam dosage up a bit before a new turmoil hit our lives.

Care Giving Again

We are now back in the “care giving business”, trying to help a friend deal with a serious hospital stay and accept a Rehab Nursing Home situation. He’s not an easy person to get along with. He’s antagonized so many people over the years that he’s burned his bridges, except for a few families still willing to help him. It’s a shame, but he’s brought it on himself, with poor health management and lifestyle decisions and frequent angry outbursts over many years.

If it weren’t for the Clonazepam I don’t think I would be able to survive the emotional upheaval he seems to keep stirred up.

So for now at least my “new normal” consists of dealing with a cranky old man who is too sick to live independently. As his Nursing Home “Sponsor” there’s lots of paper work and responsibilities to deal with there, and of course Hubby and I will be visiting him once or twice a week.

The rest of the week I’m trying very hard to relax and rest as much as I can. I’m very thankful that my dear Hubby is so supportive, picking up the slack around the house when I don’t feel like doing much. We make a good team.

God finds good use for all our life experiences, so being care givers for our Alzheimer’s parents,  parenthood, plus teaching school for 29 years have prepared us about as well as anyone can be ready to deal with a curmudgeon in failing health LOL.

We covet your prayers both for him, and for us!