Tag Archives: diagnosis

I Have Mitochondrial Myopathy

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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.

My Open Muscle Biopsy Experience

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I had my muscle biopsy last Thursday after what seemed like an eternity of waiting for the appointment to finally come. It turned out to be in my deltoid muscle, not my leg, which suited me just fine, considering how difficult walking is for me already. They numbed me up with Novacaine so I couldn’t feel anything, and since it was right near my shoulder I really couldn’t see what the doctor was doing, either.

The doctor, whom I had found so difficult to understand when we saw him back in October, did the biopsy, and he and I chatted quite a bit during the hour plus procedure. I’m glad he was the one who did it, because it gave me a chance to develop some rapport with him and get used to his speech. I feel MUCH better about having him as my doctor at UAB now.

I told him about how much pain my neck had been giving me since the 3 hours of lying flat during all the tests in November, and he gave me a prescription for a muscle relaxer that has helped a lot. As weak as my muscles are it never occurred to me to ask for such a prescription, but I’m glad he offered it! I’m still using the cervical collar while in the car and when I’ll be out of the house for extended periods of time, but my neck and back are definitely less painful at home.

I was pleased that he had been impressed with my complete medical history printout I gave him back in October.

We have had extensive experience as care givers for our parents, and we learned quickly that doctor’s appointments were much more productive if I brought complete and easy to read information to each appointment.

So as soon as I was diagnosed with Parkinson’s back in 2006, I started keeping a journal and also created a Word document in table form detailing all my medical history from birth to the present. Thank goodness I had copies of our life insurance application forms, or I would never have been able to resurrect all the dates of my surgeries and life events. It’s very easy to update the document with any new test results, prescriptions, drug reactions, etc. So I print out a new copy each time I go to a doctor and always give them the front sheet with the most pertinent information on it. If they need a full current copy I have that for them, too.

I had done a good bit of online research about how the biopsy would be done, but somehow I didn’t realize just how big a sample they would be taking out. I had an open biopsy, rather than a needle biopsy. He took a piece of muscle tissue from my upper arm about the size of the last knuckle of my little finger. I was able to keep my knees bent the whole time, so I didn’t end up with as much back pain as I did last time.

Since I’m diabetic I have to wait 10 days to have the stitches removed. I was sent home with antibiotics to take, as well as pain meds. And I really was in a great deal of pain, which surprised me, too. I guess if I had realized what a big hunk of me he was going to take out I would have realized I was going to be very uncomfortable. I’ve been off prescription pain meds for several days now, but still use Tylenol sometimes.

I was also surprised by how little I was able to use my arm – almost nothing at first, but still difficult even now after 8 days. I’ve pretty much lived in sweat pants now since the biopsy, even wearing them when we go out Christmas shopping. I had no choice. The first trip out after the biopsy to get a sandwich and do a small amount of shopping I didn’t stop to think and wore my elastic waist jeans, as I normally do. That was stupid, because hubby had to help me get INTO them.

Well, I had to use the restroom while we were out – and I couldn’t pull my pants down one handed! I’ve done my share of going into the bathroom with my father-in-law, who had Alzheimer’s, but this was the first time someone ever had to go in a public bathroom to help ME. Hubby helped me of course, but he understandably wasn’t comfortable being in the women’s restroom, even though we made sure it was empty. It really makes you appreciate businesses that provide Family Restrooms for situations such as this.

I was told not to lift anything heavier than a plate of food. I’ve learned to do a lot of things left handed and am gradually using my right arm more and more. Hopefully when the stitches are out and the heavy bandage is gone I will be able to quickly get full range of motion back.

As for test results – it will take 3 weeks to get that back, so we’ll just enjoy Christmas and possibly New Years before we hear the results.

This is an expensive invasive test that is not performed if there is any other way to obtain a diagnosis, but I’m glad I decided to have it done. I’ve said it many times while my diagnoses kept changing that I can deal with the Devil I know much better than I can the Unknown.

If you’ve read this far it may be because you are considering having a muscle biopsy. I pray that you get definitive results that will help your medical team provide a beneficial treatment regimen for you. And we pray for that for me as well, that the Neuromuscular Specialist will be able to determine what type of Myopathy I have. We are praying that it will be one of the types for which a treatment has been developed.

May you have a Blessed Christmas!

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.

Hemochromatosis – Another Possibility Crossed Off the List

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Well, the DNA test for Hemochromatosis came back normal, so that’s another possible diagnosis for my weakness ruled out. But after doing the research on this particular line of testing, I would caution anyone with Anglo Saxon ancestry to consider this as a possible cause of a wide range of disorders, from Type II Diabetes to heart problems.

It’s the most common genetic mutation found so far, with as many as 1 in 8 of Irish descent being a carrier of the gene. Something in the range of 1 in 300 Northern Europeans have at least one of these mutated genes, but it takes the mutation from both parents for the likelihood of symptoms to be dramatic. And if caught before organ damage is done, it can be easily treated. It normally takes many years to build up the iron overload, so most people don’t show symptoms until they are older.

With the Hemochromatosis test being normal, my Gastro doesn’t want to see me again for 6 months. So I guess that means he’s ruled out any liver problems as being the cause of my problems.

So, I’ve requested a Western Blot Lyme Disease blood test. I know this is a very, very long shot, but I have had the bull’s eye rash from a tick bite in the past. We found it one evening and were waiting at the doctor’s office’s doorstep the next morning. He put me on a round of antibiotics at that time. So the chances of having Lyme are not high, at least from that event. BUT, I have always lived in Alabama, and ticks are everywhere. I can’t count how many times I can remember finding them on me over the years, and their bite doesn’t always make the bull’s eye rash.

Lyme Disease can mimic lots of other diseases, depending on which organs the bacteria attacks, including neurological disorders. Treating it involves long term antibiotics, which may or may not reverse the damage already done to the body. So, I’m hoping this test turns out to be negative.

I did get a referral from my GP to an Endocrinologist, and I have an appointment with him in mid August. I’m still holding out hope that this terrible weakness turns out to be from Hypothyroidism, which our daughter has been treated for for many years. My symptoms do fit, even though the routine tests came back normal. But it is possible to have a hypothyroid condition with normal tests. It would explain my muscle weakness, hoarseness, and intense itching, and it’s fairly easy to treat.

I see my Neuro again next week, so we’ll see what he says then.

In the meantime I continue to use the cane outside the house, and could really use the walker. But I’m back to that same head space I was years ago when I was originally dx with Parkinson’s. There’s just something about “giving in” to the walker that I try to put off as long as possible. It’s bad enough having to use the cane, without having people see me as getting worse. It draws too much attention to me, and I can’t stand that.

So for now, I’m praying this turns out to be something simple to treat, like thyroid problems, and not some exotic disease that may never be diagnosed.

I’m trying to be patient, but frankly I’m not doing a very good job of it. I deal with an enemy I know much better than I do the unknown. But I’m in God’s Hands, and He knows my needs far better than I ever could.

Still Being Tested

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Since April I have been tested too many times to count. Some blood tests have come back normal, and others have not. The liver function test that was abnormal right after the angioedema from the drug reaction came back normal the next time it was done, and now it’s abnormal again. That has prompted my Gastroenterologist to do a bunch of additional blood tests. And some of those results led to even more blood tests. I’m a human pin cushion right now. LOL!

I’m using the cane all the time out of the house now and basically furniture walking in the house. And I’m not jerking, even though I have cut my Primidone down to just one tablet morning and night. I see a small bit of jerking very occasionally, but nothing like it used to be.

Until my doctors figure out what’s going on, I’ve stopped taking all my other meds, vitamins, and supplements, except the Miralax. So far my blood pressure has remained in the normal range, and considering how stressful this whole business has been… that’s wonderful.

And I’m considering stopping even the Miralax. I’ll have to be careful with that, though, or the old constipation problem may return. I’m still eating prunes and nuts for a snack most afternoons, and we eat raw spinach frequently. So I’m still getting a good bit of iron in my diet, but not any supplemental iron. I’ve even stopped eating bran cereal for breakfast.

After doing a lot of research online on the various tests they are running, I’m beginning to think my problems are caused by an iron overload in my system. If all that’s happening with me does turn out to be caused by iron overload, I don’t want to make it any worse if I can help it. The good thing about it is that there are simple ways to treat that problem if caught soon enough, so we’re keeping our fingers crossed.

Neuro Visit Uneventful

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Well, I saw my Neurologist yesterday, and it went pretty quickly. He was very interested in the Diabetes diagnosis, and asked a few questions about that, and wanted to know if the Physical Therapy was helping – I said it was – and that’s about it. I did ask him about my hands going to sleep, and he did some checking for Carpal Tunnel Syndrome, but nothing he did made my hands tingle. I didn’t really think it was CTS. He thought it might have something to do with the Diabetes, and wants to explore it further in 6 months if I’m still having trouble with them then. Sounds reasonable to me, as I hope to have lost enough weight in 6 months to be out of the diabetic situation.

One thing doctor’s appointments do is get me out of the house with an excuse for eating out, and I pigged out at the best Chinese restaurant buffet in town. We don’t go there too often for just that reason … we BOTH pig out. I was pleased that my blood glucose was reasonable afterwards, particularly since I had indulged in a small piece of red velvet cake for dessert. It’s so odd how I can eat at home what seems to be a 100% diabetic conscious meal and end up with high numbers 2 hours later, but have a small dessert when we eat out and not have high numbers. Weird.

I’ve dropped another pound this week, which I’m really glad of, and I’m getting to wear some clothes that I had almost given away, as I didn’t think I would get back down to that size ever again. Now THAT’s a good feeling!!!

So, without any whining, I’m going to quit this post while I’m ahead!!!

Seeing My Neurologist This Week

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It’s time for another visit to my Neurologist this week, and I’m looking forward to seeing what he says about the Diabetes diagnosis and my Physical Therapy exercises. I’m still having some difficulty keeping my blood glucose numbers where they should be, and that keeps me somewhat down in the dumps. I feel like hubby and I are doing everything possible to put the right foods in me, so I just don’t understand why I can’t keep my levels in range all the time. It is just another complex disease to have to deal with.

I’ve been working really hard to get our new Collectibles Catalog online for the last few weeks, and the clutter I’ve made with all my stacks of plates and such is getting to me. It seems like we’re living in a warehouse these days, with boxes stacked everywhere, full of plush animals and vintage items, too. It’s a fun business, and we enjoy going out on the buying jaunts, but then I come home and have to try to find a place to store our “finds”. It seems I can’t have my cake and eat it, too … a clean house and keep on buying new lovies and collectible finds.

I’m still practicing with YouTube videos of Sacred Harp music, and it’s a slow go to learn how to do it. My brain power is definitely not what it used to be, but that could be old age creeping up on me, too. All I know is that I don’t learn new things anywhere near as easily as I once did, and it’s aggravating and frustrating! I read the other day about a 90 something year old lady finishing college, and I thought to myself how impossible it would be for me to absorb all that information now.

I am being very successful with my weight loss attempts. I’m down another couple of pounds, losing at the rate of 1 pound about every 10 days. I’m hoping that by going this slowly and steadily with it that I will not end up with the baggy skin they always show on TV.

Speaking of TV, we’ve been without any TV reception now for several weeks, thanks to an electrical storm that killed our amplifier and antenna rotator. We’ve discovered some of our favorite shows on hulu.com, and I have my notebook hooked up to the TV, so we can both watch the same thing at the same time. We have a large collection of movies, too, so we’ve managed to “watch the tube” several hours a night. I’ve ordered a new amplifier, and do plan to replace the ruined parts and get our television shows back. I do feel good about my success in getting the picture on my laptop to show on the TV. So some neurons are still firing up there.

I’ve done a lot of whining today, and for that I’m sorry. I considered erasing the whole post, but I want this blog to be a true look at what it’s like to have my health problems, so you’re stuck with it. My apologies.

Doc Says I’m Doing Great … but ………

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I couldn’t stand it any more and made an appointment to see my Diabetes doctor earlier than scheduled. I’ve been so frustrated by so many test results that were more than he had told me to aim for that I felt like something surely could be done to improve things.

So, we went to the doctor Thursday, and he bragged on my 1200 calorie diet and thought I was “doing great” with my glucose numbers. (THAT certainly surprised us both!) But … in the very next breath he DOUBLED my dose of Glucophage! He said I could cut back on the blood testing to 3 times a day, too. Since the test strips are so expensive this is a big help. Medicare pays for 50 strips a month, and the rest has to be paid out of pocket, since my insurance doesn’t cover the test strips.

So far so good on all the testing I’ve done since doubling the dose of medicine, so I’m feeling optimistic that I will lose the weight and eventually leave this diabetes diagnosis behind. Right now I’ve lost right at 20 pounds!! Considering how ravenously hungry I was all the time before being diagnosed, when my glucose was out of control, this is great news!!!

It’s Official – I have Type II Diabetes

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I had the appointment with my GP today and asked a ton of questions about where I stand with Diabetes. I asked him point blank if I had pre-diabetes or actual Diabetes, and he said I have Type II Diabetes. I hastened to assure him that that did not upset me, that I just wanted to know, so I could read more intelligently about topics related to Diabetes. This diagnosis is a walk in the park compared to being told I had Parkinson’s, so it doesn’t upset me at all.

He stressed the importance of following a good Diabetic diet, and we explained that we have been eating very healthy diets ever since dear hubby was operated on for colon cancer. Add that to the fact that we both have Alzheimer’s in our family history (mother and grandfather for me), and that I have a Neurological disorder, so we have been consciously eating as many Super Foods as possible for several years now.

The biggest difference for me now is that I must exercise portion control (I have lost some weight already!), and I can’t have chocolate. Of course, he said I could have a little, but he laughed when I explained that I don’t know how to eat just a little chocolate. For me it’s going to have to be all or nothing. Other sweets I’ll be able to take in small amounts probably, but not chocolate!!

He tested the bottom of my feet for feeling, and I am definitely not feeling as well on the bottoms of my feet as I do in my palms. My A1C test came back as 5.5%, which is very, very good! That means I’ve done a good job of keeping my blood glucose under control, and it hasn’t been spiking for very long. They sent off a urine sample to check for albumin levels, which is a measure of kidney health. He has now run every test I know of that is recommended for diabetics.

He looked over my Blood Glucose testing results for this month and was pleased with the numbers. So he suggested that I could test before breakfast and 2 hours after Lunch and Supper every 3 days, unless I was feeling weird. That means a whole lot less finger pricks, and a bottle of test strips will last a lot longer. Those things are VERY expensive!!

I also asked his reasoning for putting me on Glipizide instead of Metformin. He said he chose Glipizide, because he was afraid of the gastrointestinal side effects of Metformin. But I would welcome a medicine that tended me toward diarrhea! I could stop some of my other meds if I did get help in that direction from the Metformin. So he gave me a prescription for it to try, taking only one pill with supper until I see how I do on it.

Since I have an appointment this Thursday with the Diabetes specialist, I’m not going to change anything until I get his view of things, but I was very pleased with the time that my GP took to examine me and answer all my questions. My GP is faxing all the information about my tests, etc., to this specialist, so that will make the appointment even more helpful.

I feel very good about the information I received today. I understand the diagnosis, and I know what I have to do to stay healthy. I am confident that I will be a good patient and will take care of myself, now that I know what needs to be done.

Looking Forward to a Busy Week This Week

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I feel really good today, and that’s something to celebrate! I didn’t even have to fight to stay awake in church today, the way I have for some time now. I think my body is adjusting to the steady level of glucose in my system, or at least a lot more steady than it used to be.

I continue to read everything I can find about ways to improve my diet and keep my blood glucose level in a healthy range.

Not that every day has been as good as today has been. We had our usual Date Day Friday, and the weather was gorgeous. That made for some pleasant yard sale shopping, but it meant we were stopping at a lot more sale signs than we have since last spring. Somewhere around lunch time I just ran out of energy. I ate what I thought was a reasonable lunch, but had the highest glucose reading I have measured so far several hours later. And to add to the general fatigue and yucky feeling from too much glucose in my system, my hands and feet were noticeably swollen. By the time we got home I was really very uncomfortable, and did very little Friday night or yesterday, either. Thank goodness that rough patch is over for now.

I’m looking forward this week to seeing my doctor to ask him about my test results from the Glucose Tolerance Test, go over my log of a month’s worth of glucose readings with him, and get an A1C test done. Oh, and I should tell you that I’ve been pleasantly surprised that all the finger sticks (for right now I’m testing before and 2 hours after every meal) aren’t nearly as bad as I thought they would be.

Here’s my understanding of how the A1C test I will have this week works. Every time a person’s glucose goes too high, the red blood cells are changed, as they react with the excess “sugar”. Once the glucose level comes back down, those changed blood cells do NOT change back to normal. So, for the life of that red blood cell, there is a chemical marker that the A1C test can read. If I have had lots of episodes of high glucose over the last few months then lots of my red blood cells will have this chemical marker in them. This test is almost like a diary of the last two or three months worth of sugar levels. It’s the last step in the diagnosis process to decide whether or not I have pre-diabetes or actual Type II Diabetes, as I understand it.

Then, later on this week I have my first appointment with an Internist who specializes in Hypertension and other Diabetes related problems, particularly Kidney problems. Don’t get me wrong. I am not having any trouble with my kidneys now, and I want to keep it that way! He comes highly recommended by my Gastroenterologist, which means he will be someone who can coordinate with my Gastro about my diabetic diet and my digestive problems and elimination difficulties.

I feel like this is going to be a very important week for me, and I am anxious for it to get going! I would appreciate your prayers!!!