I am just so stressed out

I am just so stressed out, just common words often said or heard on a daily basis. The world is a bit of a cruel place in that regards with its hustle and bustle it can keep even the best a little stressed out at times. So when you add Mitochondrial disease into this mix your added with a new set of hurtles to jump over. You want to talk about being stressed out to the max but wait here’s more. Stress is the one component that Mito patients should not have because it can factor into more suffering.

In a section one the website of United Mitochondrial disease foundation (UMDF) Treatments & Therapies. it states this

Avoidance of Physiologic Stress

Physiologic stress is triggered by external factors that may result in worsening the metabolic situation, which may result in temporary or permanent worsening of the condition. It is impossible to avoid all physiologic stressful conditions, so one should not attempt to do so. However, recognizing what may be stressful for patients allows one to adjust the lifestyle. Many patients and their parents have already identified these stresses, despite not knowing why the stresses were important, and avoid them.

Cold Stress is extremely important. Thermal regulation (temperature control) is not always normal in people with mitochondrial diseases and exposure to cold can result in severe heat loss and trigger an energy crisis. When going out into the cold, all exposed body parts should be covered, and exposure to extreme cold should be avoided for anything more than a short period. Over bundling can be a problem too (see below).

Heat Stress can be a problem in some people. This is especially true of those with an inability to sweat normally. Heat exhaustion and heat stroke may occur on hot days. It is typical for parents to describe that their child seems to “wilt” in situations like hot classrooms or direct sunlight, whereas the other children function normally. Light clothing is important. Patients should avoid direct sunlight on hot days and stay indoors if it is too warm outside. An air-conditioned environment may be needed.

So what is to most just the way it is (stress) to us is actually harmful causing more symptoms. They say stress can cause physical problems in a persons life and this is true we know it all to well. That coupled with what we have to go through since this illness is invisible to the naked eye. How many times have you heard but you looks good after talking about your disease. I can only say God bless the ignorance because they know not what they do. It does make it worse harder on us when treated this way.

I wish there was a cure or remedy here but the truth is there isn’t but maybe the just know it ourselves can take a little of the sting out. We can not walk around in glass bubbles in avoidance of stress but maybe if we just think about it slightly from the angle of its causes we can recognize it and thus avoid it ourselves.

Sleep It often eludes me

Sleep Disorders and Mitochondrial Disease

There are about ten accepted sleep disorders as found in the DSM 5 Diagnostic and Statistical Manual of Mental Disorders (DSM) which had made several significant changes in both the classification and diagnostic criteria for many of the sleep-wake disorders. . The DSM-5 sleep-wake disorders category now encompasses 10 disorders or disorder groups, including insomnia disorder, hyper-somnolence disorder, narcolepsy disorder, breathing related sleep disorders, circadian rhythm sleep-wake disorder, non-REM sleep arousal disorder, nightmare disorder, REM sleep behavior disorder, restless leg syndrome, substance/medication induced sleep disorder.

Mitochondrial disease we our mainly dealing with breathing related disorders, movement disorders such as restless leg syndrome, circadian rhythm disorder, hypersomnia excessive sleep like narcolepsy and other conditions, parasomnia which refers to abnormal sleep behaviors like night terrors or sleep walking, REM behavior disorders and seizure related disorders. This last not being on the DSM5’s list but most definitely in Mito’s list of sleep disorders. There is a page on MitoAction.org   where on March 4, 2011 Dr.Matthew Weiss spoke about sleep disorders and mitochondrial disease. I am also linking the Pod cast here as well Weiss Pod Cast for those wanting to listen in to the topic.

For me sleeping disorder comes in the form of Sleep Apnea and Insomnia. I am not going to take you through all the medical technical parts but just say those are my sleep disorder issues. I go to bed each night around ten to eleven which I admit maybe a little late compared to when I get up each day. I am always up by but mainly before six each morning. I have a lot of things I do each morning and this mean I need to be up and going each and everyday seven days a week. But with Mito and sleeping disorders I can now be up anytime. It doesn’t matter what prescriptions I try to take when I wake up that’s it I am up. I have spent to many night having just gone to bed only to wake up at one o’clock and be up there staring at the screen of my computer.

Here’s the part I know you want to come next but the truth is at the moment there is no real relief that I can find. It’s not inherit to all Mito patients just the ones who suffer from it. Though that number does seem to be a large enough statistic as to say its one of the common symptoms. The Journal of Clinic Sleep Medicine in a currant issue on Sleep Disorders Associated with Primary Mitochondrial Diseases stated their conclusion of the problem as. “Sleep pathology may be an underreported complication of primary mitochondrial diseases. The probable underlying mechanism is cellular energy failure causing both central neurological and peripheral neuromuscular degenerative changes that commonly present as central sleep apnea and poor ventilatory response to hypercapnia. Increased recognition of the genetics and clinical manifestations of mitochondrial diseases by sleep researchers and clinicians is important in the evaluation and treatment of all patients with sleep disturbances. Prospective population-based studies are required to determine the true prevalence of mitochondrial energy failure in subjects with sleep disorders, and conversely, of individuals with primary mitochondrial diseases and sleep pathology”. So we just mainly come back to the Mitochondria and ATP or our energy deficiencies.

 

New Facebook Group and Page

Adult Mitochondrial Disease Group

The group is an open public group for now where you can share your experiences, thought and feeling about adult Mito. Its a place where you are welcome to speak freely about the disease how it effects your life and what you done and been through. It is also a sounding board to bounce thought about the disease off other Adult Mito patients.

Adult Mitochondrial Disease Page

The Adult Mito Page is where I will comb the internet for relevant info on Adult Mito especially late onset. These topic and content will them be open for discussion and commenting as well especially if its something note worthy and even if its something the communities feels negatively about.

Both of these social media site are for you it is our place together share and learn. When I was diagnosed very little information was given to me by my Doctor. To be quite honest no information was given only that I should take one OTC Coenzyme Q10 tablet a day. I now know I need much much more than a 100mg’s a day  but you would have to refer back to my other post on Choosing The Right Doctor. We must advocate for ourselves here the disease is just to complex to let someone fumble around on us as they try to learn themselves.

 

 

Choosing The Right Doctor

The question of choosing the right Doctor is like the age old cart before the horse or which came first the egg or the chicken. Doctors are very complex persons to begin with and once we start to draw closer to a diagnosis of Adult Mito we will need more and more to be with one that knows the stuff. This can make it very difficult on several fronts and lead to more than just a little stress. Which is something that is not in our best interest at all.

For me this whole business with Doctor’s has been very stressful which has also made me very sick at times. I awake this morning feeling very poorly after spending the whole day on the phone with varies people and groups trying to deal with the out come of my latest Doctor’s actions. I had the muscle biopsy done on my upper thigh three months ago. Those original results had been brought into question by the Mayo Clinic. This caused the original Pathologist to restudy the biopsy and found Mitochondrial Myopathy as the outcome.

This is where the story really begins and the reason you must be your own advocate in you health care. The next step after a biopsy find of Mito should be to get to a Doctor trained in this. You can get help through United Mitochondrial Disease Foundation in finding a Mito trained Doctors in your area. This is my opinion but this is very important a doctor who lacks training and understanding of the Mitochondrial Disease can be more harmful than good. Their approach though thought in your best interest may not be the right one.

Let’s take for instance my situation which maybe an extreme case though. My muscle biopsy report written by the pathologist who examined the muscle tissue stated in several lines of comment that finding for Mitochondrial Myopathy was found that there were abnormalities in the Mitochondria which is indicative of Mitochondrial Myopathies. Now first off Pathologist’s do not diagnose you they report their finding to the referring Doctor who then reads their referrals and make a diagnosis. Well at least that is how it should work.

My Doctor told me I had Mitochondrial Myopathy and when questioned. Is this the diagnosis since I need a diagnosis to apply for disability since I have been unable to work since I took ill over a year and a half ago? He stated yes I could file for disability for Mitochondrial Myopathy. You would think the problem is resolved right and this is where you must advocate for yourself because no on and I mean no one is going to look out for you better than you. Ask for the finding and diagnosis in writing that day that minute.

I walked out of that office not questioning what was said to me and proceeded on which has brought me a lot of headaches. The next thing my Doctor tried to get done which I thought was a good thing was to have a Genome test preformed I hope that is the right way to say that. He put in for a test and this was based on a statement in the pathologist report. “The biopsy can be sent for mitochondrial mutation analysis if clinical indicated and approved.” what this statement means is there are additional test that can be preformed if medically necessary to further define the Mitochondrial Myopathy.

I didn’t know this and I am pretty sure my Doctor didn’t either since the first test he requested a DNA test was denied immediately. He appealed the insurances decision only for me to find out midway into the appeal he changed his mind and realized he had asked for the wrong test. He then asked for another which was supposed to be the correct one which was denied as well on the bases of medical need. The insurance found no bases for any further testing to be done after diagnosis. Mitochondrial Myopathy has no cure and the treatment for Mitochondrial disease is pretty generic across the board only differing on a patient by patient bases. This is where my Doctor should have know his limitation but also where we need to advocate for ourselves as well and move on to someone who does.

It can be a hard decision to make and often one you will have to make but once you have an idea that Mitochondria is part of your illness move onto a Doctor who specializes in this disease because the  ones that don’t will just be guessing and making more headaches for you as you watch them flounder along. My Doctor asked for the DNA testing to prove the biopsy find an incorrect approach since the biopsy finding did not need to be proved only expounded on. It is also these note of his that show a lack of understanding as to what I have that the disability people will see and question the diagnosis based on his medial notes. That is my fault always ask for writing when dealing with these rare diseases because after you leave it is simply your word against what you thought was said you have no proof of what was said.

My Mitochondrial Disease Symptoms

First off let me start by saying forgive me on the length of this post. It is very long and for that I am sorry. When I first starting researching Mitochondrial Myopathy I wasn’t able to find what I was looking for a brass tax on the symptoms experienced by a middle aged adult with sudden onset. So I felt like I had no real way of know if how I felt was related or was it something else. Thus the reason for the length of this post I want to tough on each symptoms as best I can so that the next person maybe able to find help here.

The symptoms of mitochondrial myopathies include muscle weakness or exercise intolerance, heart failure or rhythm disturbances, dementia, movement disorders, stroke-like episodes, deafness, blindness, droopy eyelids, limited mobility of the eyes, vomiting, and seizures.

For me, my symptoms have included several facets of these seen in the featured image but also in the previous paragraph. For starts let me say I am a 44 year old white male living in Missouri. So that gives my background as to who I am before I became an Adult Mito patient. I was diagnosed through a muscle biopsy after spending over a year sick to the point of not being able to work or just live my life.

I will start with the Nervous system and the effects the disease has placed on my life regarding these. As I sit here writing this I am dealing with general to acute nerve pain caused by the disease in the form of nerve damage done. It it this pain that bothers me very much unlike muscle pain that you can at least be understand.

My nerve pain

Autonomic:                                     Motor Nerves:                  Sensory Pain

  • Lightheadedness                      * Weakness                         * Pain
  • Dry eyes and mouth                * Muscle atrophy               * Sensitivity
  • Constipation                                                                              * Numbness
  • Bladder dysfunction                                                                * Tingling
  • Sexual dysfunction                                                                  * Burning

My eyes are the second in my list especially since I receive a lot of difficulty here. I will see an eye doctor in the coming week for the weakness I am experiencing. I have blurry vision and double visions at times. My dry scratchy eyes drive me crazy beyond words. Also my weakness at sight in the dark. These are just the top without having seen a Doctor yet and also the possibility of drooping eye lids something I fear is going on also.

My heart has to be the next on this list, in the early stages of trying to figure out what I was going through. My Primary Physician wanted to rule out heart attack and the likes. I do have a bit of family history with both my Father 55 and his father 60+ having died of heart attacks and my Dad’s brother having a massive heart attack followed by bypasses as well. So I had all the test performed including the Cardiac Catheterization with no result of any problems. So my heart was not an issue according to these. What I did have a was a pain in my chest that I could only describe as my heart hurting and later after wearing a holter monitor for 14 day which showed my heart having an unusual beat racing up and slowing down. I have seen no further heart Doctor on this especially after diagnosis of Mito.

Skeletal Muscle is what we will move onto next which actually will include a wide variety of symptoms and I will refer to and article on Mitoaction.org’s website as reference material. It was in reading this article on Fatigue and Exercise Intolerance I came to understand some of my varies symptoms and how they were related together. I had just thought before that my body was on strike against itself prior to reading this article. I was better able to understand my muscle weakness and overall fatigue and how it related.

In the article they used the term exercise intolerance but for me it is more like just living life intolerance. I do not go to the gym each day so the term exercise must refer to something otherwise. What I am doing is trying to maintain my way of living. I have a farm with animals, chores and such that I have to deal with each day and it is this that I am having a great amount of difficulty with especially since I am no longer able to work either.

First of let me give a bit more background about myself beyond my age and sex. All my life I have been a high strung individual doing everything obsessively you might say. I rarely asked for help and always put a 150% into what I was doing.  I am a workaholic working well beyond 40 hours a week and always excel in whatever I pursue. So when I suddenly started getting sick with weakness and all these other symptoms my mind has had a very hard time adapting to this disease as it is not in my makeup. That being said we can understand my psychology as well especially with some of the early Doctors suggesting a shrink since they didn’t know what I was suffering from and since I knew I wasn’t depressed it was a little crazy dealing with them.

So I have not experienced muscle spasms or cramping as you would think of them. What I have experienced is overall soreness in my skeletal muscles which can be construed as cramping and locking up or tightening of muscles as spasms. Once again it was just my perception in not being able to relate these symptoms effectively to the disease. Which also at first gave me the impression that maybe there was a mistake since my symptoms appeared to be unrelated. Also being awaken from sleep by muscle pain and or headaches make much more sense now.

My shortness of breath, the pain in my chest and heart beat all fall in here as well. As does my feeling like suffocating when I eat. I had just thought it was a pulmonary problem I had when related to these breathing problems and not how the disease was effecting the varies parts of my whole system. This lack of proper energy (Mitochondria) has effected every part of my body and like the domino effect has an even more wide range costs.I have sleeping disorder in the form of insomnia, and moderate sleep apnea. Also my heat/humidity intolerance falls in here especially since I first thought it was a breathing issue at first as well.

Digestive tract is our next symptom in our list. I have acid reflux no matter what I eat and I am taking acid pills everyday as well as tums to. I have both constipation and diarrhea which to me often seems at the same time. The intestinal obstruction referred to in the featured Image for me  has to be the pain I feel in my stomach. Its always in the same place a pressure like my guts are falling out. This is another area in which I had looked at early on but it seemed so unrelated at the time I just put it to the side but now must reexamine the symptom for better clarity.

My mind is my last symptom I am experiencing and also another one that is bad compared to my previous abilities. I was sharp as a tack before and was employed in a very complex job dealing with multiple parts and record keeping on a very in-depth level. I now can no longer do the work functionally let alone the mental part of the job. I now deal with brain fog that seems to dominate my days as well as lack of focus and concentration. I am noticing my lack of ability to problem solve or think things through and I am getting very forgetful something I never experienced before in my life. As I said I had a job that required the ability to remember things and now I can’t.

Well that is the end and as the last part the memory I hope I haven’t forgotten anything. I hope it will be of some help to someone.

 

Mitochondrial Myopathy

In May my Neurologist told us I had Amyloidosis  a rare protein disease. Amyloid is an abnormal protein that is usually produced in the bone marrow and can be deposited in any tissue or organ. Amyloidosis is a scary disease effecting fewer than 200,000 in the US. This diagnosis was given to me by the Neurologist from the results of a muscle biopsy I had done. Having a wide range of multiple symptoms not indicative to any one disease and muscle weakness being one a muscle biopsy was performed.

The biopsy report stated, “There is a small amount of congophilic material that is apple green on the Congo red stain with polarized light. This appearance is indicative of amyloid deposition.” The Neurologist after giving us this diagnosis told me and my wife that this was treatable and acted like we had gotten a break. We looked up the disease after leaving the Doctors office only to find that its wasn’t a break at all and in fact it was a very serious disease. That people with the disease usual travel to one of the only five place in the US who specialized in its treatment.

After a week or so of researching this we had my records and biopsy details sent to the Mayo Clinic in Rochester, Minnesota. We went there for a week to receive treatment for Amyloidosis and to gain a greater understanding of how the disease was effecting so many parts of my body. It was the first day we were there that the nightmare began. The first Doctor we saw questioned us on what brought us there in the first place. He suggested boldly that he wasn’t sure I had Amyloidosis at all.

At the time we didn’t know it but they had misplaced all my records at the Mayo and since they didn’t have the information found in those reports they just made the assumption I didn’t have Amyloidosis. Test were performed during the week we were there consistent with Amyloidosis testing and those result were negative. So now not only had we traveled over 500 miles from our home to seek treatment for a rare protein disease but according to Mayo we didn’t even have the disease. They did finally find our records on our last day but claimed that the Congo red staining was a controlled sample without any muscle tissue on it. We left Minnesota back for home and felt unsure about everything we had been through both our Neurologist’s diagnosis but also Mayo’s as well since they were so very rude to say the least and made a lot of assumptions without our medical records.

The muscle biopsy was reviewed again this time with both the original pathologist and Mayo’s pathologist looking at it as well. And this for me is where it get funky in that the #1 Addendum is reference to Amyloidosis and the Congo red staining and a #2 to Mitochondrial Myopathy. So which do I have and why is it my Neurologist only chose the first and not the second not to mention there is a combination of the two I read about somewhere. So that brings me to the #4 where Mayo is referred to as not seeing muscle on the Congo red stain and calling it a control slide though the report states that other images were sent as well in reference to the Amyloid deposits but their report neglects to mentions those other images the Local Pathologist sited.

So where am I going with this who knows here I sit having wasted in my opinion 2+ months and $500.00 dollars going to Mayo and all I can show for it is my aggravation. Oh don’t get me wrong I have the Biopsy report showing both diseases just I am still really waiting now to see a Doctor who knows something about this stuff and doesn’t have their head up you know where as Mayo did.