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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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Mitochondrial Disease Treatment in Phase 3 Trial

Day by Day with a Movement Disorder Posted on October 21, 2019 by DBDecember 9, 2020  

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!

Posted in Medicines and Supplements, MITO | Tagged Big Pharma, Clinical Trial, Elamipretide, MITO, Mitochondrial Myopathy, phase 3 | Leave a reply

Cold Intolerance

Day by Day with a Movement Disorder Posted on November 18, 2017 by DBOctober 10, 2019  

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.

Posted in Quality of Life | Tagged cold intolerance, energy, MITO, Mitochondrial Myopathy, photobiomodulation, sauna, sunbathing, The Energy Blueprint | Leave a reply

Ophthalmologist Referring Me to Oculoplastic Surgeon

Day by Day with a Movement Disorder Posted on April 26, 2017 by DBApril 26, 2017  

Ophthalmologist Appointment

I saw my new Ophthalmologist for the first time yesterday. Of course I had to go through all that’s been happening to my sinuses and tear duct for all of last year. I told him about my general health issues and that I had had lachrymal implants a couple of times several years ago to treat dry eye. The implants fell out, but stayed put long enough to give the eye a chance to heal. Or so I thought.

This doctor pressed hard for what seemed like forever right on the spot in the corner of my eye where the swelling has been, and where it is very tender. It was all I could do to make myself lean into the head device, despite the pain.

He thinks I have one or more of the lachrymal implants logged in my tear duct. Once again my body is the exception to most rules. I never know when MITO is going to rear its ugly head and cause problems with my healing process.

I explained to him about my upcoming sinus and septum surgery. And I asked his opinion about what should be done first. Hubby is having a vein procedure done next week, so I don’t want to have any procedure done until after he is well.

He said there is no time push for this to be done. He made an appointment for me with the Oculoplastic Surgeon for a month from now. And he also re-filled the eye drop prescription my Optometrist had me on while he tried to clear up the infection in the duct. After all that hard pressing he did, I’m sure I’ll need the drops to calm down the tissue again.

Oculoplastic Surgeon

So what does this kind of eye doctor do? They operate on the lids, among other things. He will likely make a slit along the top edge of my bottom eyelid and attempt to remove the blockage. He may find implants or maybe just scar tissue. Whatever it is, it needs to come out.

Then he will put a stent in the tear duct to keep it open. My Ophthalmologist says this is a relatively simple procedure. He said that sometimes they do it right in the doctor’s office. I sure hope it’s as simple as he tried to make it sound. It makes me squeamish and apprehensive just thinking about it.

ENT

I’m calling my ENT today to try to determine when I will have the sinus and septum surgery. Looks like we’re going to have a very busy calendar for the next month or so!

Posted in Surgery | Tagged lachrymal implants, MITO, oculoplastic surgeon, ophthalmologist, tear duct | Leave a reply

Pain after Allergy Testing

Day by Day with a Movement Disorder Posted on April 19, 2017 by DBApril 19, 2017  

Pain after Allergy Testing

You wouldn’t expect to be in pain after having allergy testing, but this last week has been terrible for me. I didn’t have one bit of trouble with my skin from the testing. I didn’t even itch afterwards.

The pain is coming from my neck. It’s as bad as it was before I had the cervical fusion surgery. My muscles are all jangled and spasming all the way down to my waist. Anything that requires lifting my head above eye level even the slightest is extremely painful. And I have a constant burning and throbbing at the back of my head. Turning left or right is not fun, either.

So how did this happen from allergy testing? I had to lie very still on my stomach on a hard and narrow procedure table with no good way to get my head comfortable. She lowered the head section as much as she could, and I had my forehead on it. There was no place for me to rest my arms, so I kind of held onto the sides of the table. By the time the testing was over after maybe 20 minutes like that my neck and shoulders were terribly fatigued and painful.

Pain Meds

I’m off Goody Powders or even plain aspirin in preparation for having more sinus and septum surgery, so I’ve had to use my Methacarbamol to try to relax my muscles. I was in so much pain Sunday after sitting in the pew Sunday morning that I took a Lortab I had left over from my last surgery. Obviously I can’t do that on a regular basis. So I’ve been supporting my neck with the gel U shaped pillow I use in the car and also sleeping on a hot pad.

Yucky

I’ve not been very clear thinking at all thanks to my pain level. And the yucky sinus discharge and blocked tear duct aren’t making me feel any better, either. It seems like everything my body needs to do ends up being harder than it should be. I blame it on my age and the MITO that makes my cells not work as efficiently as they should. It’s very depressing. I thank God that I have Him to help me through all this.

Posted in Quality of Life, Tests | Tagged allergy testing, MITO, muscle spasms, pain, sinuses | Leave a reply

CT Scan and Allergy Testing

Day by Day with a Movement Disorder Posted on April 1, 2017 by DBApril 1, 2017  

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!

 

Posted in Tests | Tagged allergies, allergy testing, ct scan, God, healing, MITO, Mitochondrial Myopathy, prayer, sinuses | Leave a reply

Tear Duct Is Better?

Day by Day with a Movement Disorder Posted on March 26, 2017 by DBMarch 28, 2017  

Tear Duct

I wouldn’t say it’s completely open, but my tear duct appeared to be better this morning. I went to my eye doctor for the last time with this issue on Friday, I thought. The infection appeared to have finally calmed down. I definitely didn’t have the big painful knot in the corner of my eye then.

But I DO have a small knot there that has puffed up during the day today, so will be calling the eye doctor in the morning to see if I should go back on the antibiotic eye drops.

He used a syringe (no needle of course) of fluorescent liquid in the tear duct openings, top and bottom, and tried to find signs of the bright yellow color in my nostril. No such luck. Then he pushed a whole syringe of saline through. I could feel the pressure, although he had numbed my eye. Still no fluorescent signs in the nostril.

BUT, when I pressed on my eye to wipe off all the liquid around my eye – it squirted out my nostril! He thinks the pressure of pushing the saline opened the duct up at least part way.

Since it’s puffing back up some today, I’m wiping tears more than I was, too, draddit. Hopefully this is swelling from the poking he had to do Friday, and not more infection.

Antibiotics

I’ve now been off oral antibiotics for two weeks and antibiotic eye drops for three days. My digestive system appreciates that, for sure. Of course I’m still taking the probiotics. I am very thankful that all these antibiotics have not caused any tummy issue. I used Zofrin and the probiotics to protect my system. The Zofrin was causing constipation, so I went back on my MiraLax to combat that. So at least my gastric system is happy.

ENT

I’m ready to make an appointment with my new ENT. The eye doc has done all he can for this mess. I’m still having thick mucous discharge down the back of my throat. I’m clearing my throat constantly, just as I was all last year. And that’s keeping my throat irritated and my voice hoarse.

MITO

One thing’s for sure, when you have a mitochondrial disease, you never know how your body is going to react to any situation. I’m just thankful for doctors who understand that I’m not a typical patient!

 

Posted in Quality of Life | Tagged antibiotics, healing, Miralax, MITO, pain, probiotics, sinuses, swelling, tear duct, Zofrin | Leave a reply

Sinuses Healed 85%

Day by Day with a Movement Disorder Posted on February 2, 2017 by DBFebruary 2, 2017  

Old ENT

I went back to my ENT this week, and he says one side of my sinuses is completely healed and the other is 85% healed. I’m still adding the antibiotic powder to my twice daily nose wash for another week. And he has dismissed me, since this ENT does not accept my new insurance.

He did debride a little in the side with scabs, but I was prepared this time and took a Lortab ahead of time. That helped bear the discomfort a lot.

New ENT

I have made connections with another ENT who accepts my new insurance and has credentials in my hospital. I’ll see him in a couple of weeks. I’m glad I had the FESS surgery almost four months ago to have my sinus cavities opened up. But I’m still swallowing gunk constantly. And I’m still having on again, off again issues with my right eye hurting and discharging. Hopefully he will be more aggressive with clearing up this sinus drainage I’ve had for over a year.

I have diligently followed the neti pot routine every day. My MITO has turned this routine healing process into a challenge, because my cells do not create energy properly – and that translates into very slow healing.

I’m feeling very thankful to God that I’m gradually healing, as I have certainly prayed for it!

 

Posted in Surgery | Tagged debride, ENT, healing, MITO, prayer, sinuses | Leave a reply

MITO Messing with Healing Process?

Day by Day with a Movement Disorder Posted on January 11, 2017 by DBJanuary 11, 2017  

I had FESS endoscopic sinus surgery about ten weeks ago. The surgery went well, but the healing process has not gone as well as expected.

MITO Messing with Healing

There’s no way to be sure, but my ENT thinks it might be my MITO messing with the healing process. By now the mucous membranes should be all back to normal, but instead, I still have scabs and crusting that he has to debride (remove the scabs so the raw edge has a chance to heal correctly). I wasn’t expecting any more of that and hadn’t pre-dosed with pain meds for my appointment today. I sure wish I had.

Post Nasal Gunk

I still have thick mucous draining down the back of my throat. That’s keeping my throat irritated, and my voice doesn’t sound right. I can’t taste food as well I did before, either. He thinks that discharge is a result of the lining not healing properly. And of course, when the nose is not working properly, food doesn’t taste the same.

Breathing Easier

I CAN say that I can now breathe better than I have in years – so opening up the sinuses has stopped the clogged sinus issue I’ve dealt with for a long time.

Back on Antibiotics

He has put me back on a stronger antibiotic. I am supposed to add it to the daily nasal wash. With only a few weeks here and there without them, I’ve been on one antibiotic or another for over a year now. I’m taking Theralac probiotics to prevent most of the digestive issues that causes.

I see him again in three weeks. I’ll take my pain meds before hand, that’s for sure! I’ll also spend the next 3 weeks trying really hard to get super nutrition – I’ve strayed a good bit from my normal eating habits, thanks to the holidays. Also, not being able to taste foods very much has triggered me to eat more of some things that I normally wouldn’t, because I can still taste them – like popcorn LOL.

So I’m praying for a good report in three weeks!

Posted in MITO, Surgery | Tagged antibiotics, healing, MITO, nutrition, post nasal drip, surgery | Leave a reply

3 Parent DNA in the News

Day by Day with a Movement Disorder Posted on September 30, 2016 by DBOctober 17, 2016  

You may have seen the news stories about a baby boy born this year with 3 parent DNA. If you’re interested, it’s easy to find with a Google Search for “3 parent dna”. This form of artificial conception is legal at this time only in the UK. So the American doctor who performed this procedure went to Mexico, where rules are evidently more lax.

2 Kinds of DNA

The human egg cell from the Mom has two distinctly different kinds of DNA. The DNA in the nucleus carries all those characteristics we associate with family, like hair color, ethnicity, stature, etc. The other kind of DNA is NOT in the nucleus. This DNA is in the mitochondria organelles found in each cell, including the mother’s egg cell. The Mitochondria are responsible for converting our food into the energy each cell needs to function properly.

We ALL have some level of damaged nuclear and mitochondrial DNA. Mutations occur naturally over many generations of procreation. Over our lifetime, we eat unhealthy foods and take chemicals into our body intentionally and unintentionally. We are assaulted by various viruses and bacteria. The older we get the more faulty DNA we have.

The mother in this news story had already miscarried 6 times and had carried 2 babies to full term. But they were not healthy babies, and both died very young. They had Leigh’s Disease, which is caused by faulty mitochondrial DNA passed from the mother to her babies.

Mitochondrial DNA is passed from mother to child. The baby does NOT receive any mitochondrial DNA from the father.

So, they harvested egg cells from the mother and fertilized the eggs with the father’s sperm. Many people who cannot conceive naturally go through in vitro fertilization. So that’s not that unusual.

How it Was Done

What made this conception so ground breaking is what they did BEFORE they fertilized the egg with the father’s sperm. They literally took the Mom’s nucleus out of her egg cell and put her nucleus into another woman’s egg cell. This prevented the mother’s defective mitochondria from being passed on to her baby. And then they implanted the fertilized embryo into the mother’s womb.

The baby boy has all the genetic characteristics of his Mama and Daddy, except the donated mitochondria work the way they should.

Controversy

Obviously this little boy’s health is going to be followed by the medical community – probably for his whole life. And just as certain will be a debate on whether this doctor should have performed this procedure without sanction from the medical community.

Having miscarried and having trouble even getting pregnant myself, I now suspect my own mitochondrial disease contributed to our difficulty conceiving. Let the medical community and legal authorities deal with the ethics, research methods, and legality of this 3 parent DNA conception.

I can only pray that this little boy will grow up to be a healthy young man.

Posted in MITO | Tagged DNA, energy, Michondrial Disease, MITO, mitochondria | Leave a reply

Physical Therapy Helped a LOT

Day by Day with a Movement Disorder Posted on August 6, 2016 by DBAugust 6, 2016  

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!!!

Posted in Exercise, MITO | Tagged exercise, MITO, Mitochondrial Myopathy, muslce weakness | Leave a reply

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