Mitochondrial Disease and Me

Mitochondrial Disease Awareness Ribbon Coffee Mug on Amazon

There was a day I didn't even own a coffee pot. A time I didn't care about coffee. And many years in which I never thought twice about the need for a caffeine rush.

That all changed in my early thirties when fatigue clouded my mornings. By the time my boys attended a school across town, requiring a daily commute, I often  slept in my car before driving home. For hours. With a stored pillow and blanket.

Often embarrassed by my need for sleep, I was relieved to learn I had high levels of the Epstein Barr Virus in my system. I remember thinking, "I'm not just depressed because my husband died young. I'm a tired person."

So we plugged along. Until my right arm started hurting a few years later, hindering the computer work I did for an insurance company.

I drove a hand specialists nuts. He couldn't find a viable reason for my debilitating pain. So I traveled to the Mayo Clinic since my hands and wrists are quite instrumental in my musical life. Doctors there noted Peripheral Neuropathy and prescribed Amitriptyline. It helped.

 

Fast forward three or four more years, and my leg issues began with Peripheral Neuropathy that startled me on a field trip and created a Wheelchair Detour. Within a few months, however, I walked through a drug store holding a small cart thinking, "This is why old people use walkers." Unstable legs moved in spastic strides.

It took another three or four years, but my son finally showed enough joint instability that a doctor sent us both for muscle biopsies and eventual spinal taps. Pages of medical reports indicated Mitochondrial Dysfunction.

Sometimes I wonder what I would have accomplished in life if I hadn't had to spend so much precious energy chasing answers that are still somewhat unclear.    

Mitochondria power our cells. Every cell in every organ system. They provide the electrical energy (so to speak) that makes your body move, digest food, and think clearly. Everything you do requires energy from your mitochondria. Everything.

People with mitochondrial dysfunction (or disease) live in bodies that don't power well. We're short circuited; a 30 watt light bulb shining in place of a 75 watt design. We have a smaller amount of energy to do the same amount of living as everyone else. And when we push too hard, for too long, we brown out. We crash. We sleep for hours, or a day, and sometimes require IV fluids to revamp the circuitry.

It's like blowing a fuse. Not the angry kind. The kind where your hair dryer and curling iron run at the same time as too many appliances in your kitchen and every thing shuts off at once.

Symptoms vary from person to person, creating much confusion in the medical community. Sam (my youngest) and I have same the biochemical markers. But he just ran a 10K in 40: 13. No joke.

I can't walk up a hill without weakness affecting my stride.

Yes, he's younger. Much younger. And much stronger than I ever was at his age. But the point is, different people suffer a different severity levels, very much like the stages of cancer.

But I'll never forget a wise PA who worked in a pain clinic I visited early on. After listening to my tale at length, she looked at me square on and said, "It's like you woke one day and your face was green and no one can tell you why. If you had cancer, people would rally. They understand cancer. But they don't know what to do with what even we don't understand. You're walking around with a green face."

A diagnosis helps. I don't feel quite so green.

But doctors still debate the science. What one mitochondrial disease specialists may diagnose, another sometimes questions. With the few professionals in our field debating the science, a local pediatrician has little hope of understanding the best treatment options for our here and now.

So we raise awareness. We write about the disease. We tell our stories in hopes of making it a little easier for the undiagnosed, the tired ones, and the moms holding their precious babies in need of a cure.

photo credit: TheGiantVermin via photopin cc
photo credit: Sjoerd Lammers street photography via photopin cc
photo credit: glyn_nelson via photopin cc
photo credit: Claudio.Ar via photopin cc
photo credit: Express Monorail via photopin cc
photo credit: Ol.v!er [H2vPk] via photopin cc