Commentary - November 2008
Tex Med . 2008;104(11):5-6.
By Art Caylor, MD
Did you know that Sept. 21-27 was National Mitochondrial Disease Awareness Week? Probably not. This was our first year, and getting the word out was done primarily by those of us who have mitochondrial disease (Mito) or by family members of someone who has it. In either case, we are overwhelmed with just daily living; additional tasks as large as this don't get the attention they need. But certainly we are trying, and we will be back next year and the year after that, until there is no need to raise awareness.
I am a retired, disabled family physician who was diagnosed in 1996 with mitochondrial myopathy after five years of searching and struggling for answers. Dozens of doctors, hundreds of tests, and numerous trial treatments had failed to provide me with a name for a disease that was threatening my existence. Then I read an article in the New England Journal of Medicine about a mysterious ailment, the likes of which could easily have risen from the pages of a science fiction mystery. Without a doubt, I had found the source of my debilitation. A few additional tests and an open muscle biopsy documented what I already knew: I had become an official victim of inadequate energy production at the cellular level.
As you may or may not know, Mito is not the ultra-rare process it is generally thought to be. It is far more common and we are discovering it has the potential of being down-right too common. Researchers are uncovering more and more illnesses that are possibly affected by malfunctioning mitochondria. Alzheimer's, Parkinson's, and diabetes mellitus are just a few.
The 50-plus named Mito diseases are just the tip of a very large and bizarre iceberg. It is best to think of it in a global sense. Mitochondria produce 90 percent of our body's cellular energy requirements. Any organ that requires energy can be affected. Can you name one that doesn't? As you can imagine, organs that require the most energy will be the most affected. The brain, heart, and skeletal muscles often are the first to exhibit signs. Do you see what I am getting at? With the mitochondria possessing so much diversity, who knows which organ is going to be affected and when? Or, if you are unfortunate, as I am, it can affect every organ system.
The Human Toll
The scope of this commentary is not to dissect the microscopic or detailed scientific data that is mitochondrial medicine. I offer this commentary to underscore the human toll of mitochondrial disorders - the huge onus that living such an unpredictable life with Mito places on a person and their loved ones. There is no age limit. There does appear to be a relationship between the age of symptom onset and the severity of the ailment. The general rule is: the earlier the onset, the more severe and deadly the disease.
For an adult, the initial question is typically: Is this inherited or acquired? Some inborn mutations will not surface until young adulthood or even later. An acquired error can manifest at any age. To provide you with a representative view of the rigors an adult with Mito might face on a daily basis, I simply offer you a list of some of my maladies. There are others. Some adults' lists are not as extensive, and others are more.
One of the biggest challenges is facing fear and uncertainty at bedtime each night. Will tomorrow bring new symptoms or a hopeful reprieve from the severity of the current ones? Here is my list:
- Bilateral severe sensorineural hearing loss (deafness);
- Severe and constant neuropathic and myopathic pain;
- Severe fatigue;
- Muscle wasting, with weakness and diminished stamina;
- Gastroparesis, persistent nausea with cyclic vomiting;
- Gastrointestinal malabsorption;
- Esophageal dysmotility with spasm;
- Dry mouth leading to numerous dental problems;
- Neurogenic bladder;
- Autonomic dysfunction;
- Mitral valve regurgitation;
- Atrial fibrillation;
- Air hunger;
- Cardiomyopathy with left heart failure; and
- Mild encephalopathy.
Granted, it is a long list and it is growing, but I am an adult and can understand why I don't feel like "playing" today. Imagine the confusion of an innocent child, frustrated by the desire to play like all the other children.
Or, imagine the confusion of new parents of an apparently healthy child at birth. All seems to be perfect until the baby doesn't feed as well or spits up more and more, eventually with alarming frequency and amounts. Then the muscle tone begins to deteriorate to the point that their baby seems floppy.
Developmental milestones are not reached on time and before they know it, the most serious signs begin to appear. But nobody seems to know what is going on. The doctors are alarmed, yet none are certain why this is happening, and nothing helps. Nothing can sooth the cries from their precious gift, and they feel so helpless. Then, as the light of this sweet, joyful life begins to dim, the overwhelming helplessness of this calamity turns to hopelessness, until all hope is gone. Finally, the culmination of their love for each other and this perfect bundle of life and happiness that was to be their family slips quietly away, lost forever to a monster without a name. Their lives forever changed, forever darkened by the unknown.
Know or Not?
Would knowing have made a difference? After all, there is no cure for mitochondrial diseases, and the treatments that exist are only sporadically helpful. But there are many supportive measures that can be used to ease the suffering and prolong the life of Mito patients. Plus, there is the obscurity of the unknown. Was it something we did wrong? Will it happen again if we have another child? All these unknowns weigh so very heavily on loving parents. Knowing may not produce cures, but it eases the burden of why, and answers the "what if" questions. Would knowing have made a difference? Would it have made a difference if it were you?
My plea is for all who need to know, all those who are desperately searching for some kind of hope. Please, if for no other reason than to know you have done your best, look at the information on the Web sites below and discover mitochondrial diseases. I had an attending physician in medical school that loved to sarcastically remind us, "Doctor, how in the world can you expect to diagnose an illness if you don't even know it exists?" Knowing mitochondrial diseases exist will save lives.
In closing, if you remember nothing else from this commentary, please remember, if you encounter these circumstances, think Mito :
- A "common disease" that has atypical features,
- Dramatic setbacks or flare-ups of a chronic illness triggered by minor infections or stressors, and
- The involvement of three or more organ systems.
For detailed, up-to-date information and resources regarding mitochondrial diseases, log on to www.umdf.org or www.mitosoc.org .
Dr. Caylor lives in Cedar Park, near Austin.
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