After fourteen years with too numerous to count misdiagnoses, this is my daily journey living with an unknown disease that has made me fully physically dependent, living by the help from my family, friends, and beloved service dog. It is how I have chosen to define myself to remain whole in spite of it.

Mystery: Solved

I had done it..

The bright screen glared back at me in a blur of light. All words and images meshed in one as my mind raced beyond to the puzzle pieces that had just been put into place in my mind.

For the first time in 18 years, the equation of explanations to all of the questions about my physical health, was actually balanced, answered—everything neatly explained in complete harmony. It left me in a state of complete shock. There was no emotion, no fist pump of joy. If anything, time ceased; my body became cold, chills rolling down my arms, and I was incapable of any thought beyond seeing that the equation was balanced and everything made sense. It was elating; it was devastating.

I don’t know what my mother asked me when she came to check on me a while later. I saw her, heard her voice, but merely looked at her. In a quiet voice that stopped all movement I said, “I figured it out; I know what happened to me. I think I solved my own medical mystery.”

I have to be honest, in the last several years I have imagined myself solving this—though I really didn’t care if it was me or someone else, as long as we had answers. But I always thought there would be elation, heart palpitations, joyous shaking, an overwhelming need to shout Hallelujah from the rooftops, tears, anything. But no, I was frozen. And, as I explained to my mother, who had sat heavily in a chair, she became frozen too.

Her silence was so thick you could cut it with a knife when I finished laying out my argument. Finally, I said, “Well? Do you disagree? Did I miss something?”

Her eyes were looking far away, and in the same tone of a voice I had, pensive and quiet, she later said, “No; it makes perfect sense. It answers everything.”

And, terrifyingly, it did.

The experience, the obsession, the insanity of searching for answers, I shared in the previous post The Search—Lorenzo’s Oil, written in an intense moment, though I confess I hesitated in posting it, as even I didn’t want to face the reality of what I had become. Until this moment that the screen’s words faded and I could only see my completed puzzle, did I know that I all that I have done was right; that it was all worth it. While the last few weeks had been the most intense of research, (physically and emotionally), it was done in accumulation of all the 17 years; the playing with doctors, their assessing and dismissing, and my keeping every comment, every possible diagnosis, every observation—as well as all of my peculiar systems and experiences—all coming together for this precise moment.

In what I call a “working diagnosis theory”, I have proved that I do indeed have Mitochondrial Disease—which arrived first, (about 9 months before severe symptoms began), complicated and made more severe by Guillem Barre Syndrome, (GBS), and later either or both of the aforesaid diseases produced my Hodgkins Lymphoma Cancer.

I had research papers, test results, time lines, and symptoms context to back up every single claim. Doctors theorized the possibility of these diseases at some point or another over the years, always individually, and most have dismissed them. Yet none of them had put them together, and as they finally fell into place, all of the unanswered medical questions that have haunted me, taunted me, for years, vanished.

If you’re wondering why now—what changed to bring about the answers as, it hasn’t been for lack of trying on my part or the doctors. Fundamentally, none of the diseases on their own make sense or explain my complex and complicated symptoms. The key is the harmony of all of it together—and the new research of mitochondria, that has only come about in the last year or so.

What it means in most basic terms—mitochondria disease represents a dysfunction of the body to create enough of ATP-really “muscle food” that powers not only your arms and legs, but every muscle system in your body—including your brain, lungs, intestines, etc. When the brain starts saying, “We need more fuel”, and there is no muscle food, well things get complicated and all of my weird episodes come into play—and are now not so weird. Marry this extraordinarily complex system with damage from a neurologic disease and cancer, and you get my body—a comparable World War II jeep that has been stripped down, survived everything, and somehow still kicking.

As my mom and I coexisted there in that long moment, time began to move forward, and we were left with our next challenge: what do we do with this new found information? It overwhelmed us, yet we were at peace. It was too big to share, and neither of us could face setting up false hope—though in the devastating wake of the news my mom and I were keenly aware I had showed that I have an incurable, advancing, disease, that hasn’t any treatment.

The diagnosis would change nothing, yet changed everything.

Most importantly we knew I had to see if my very wise, long-time primary care doctor, would concur. How we did that was what we put our energy and prayers into next. We both settled that my presenting in a detailed summation document would be best. Headphones on, I dared to layout all of the research, facts, findings, and theory into a coherent argument, merged with an outline of all of my symptoms that now seem to make sense.

After rereading, editing, having one, (maybe two), meltdowns, I pressed send and emailed it all to him. Then we waited.

One week later, this week, he called to say he concurred with all my findings. I have a working diagnosis theory. I had done it.

Tears filled my eyes. Again, the equal emotion of happy and sad, praise and despair, buoyancy and gravity—swarmed my senses, making me feel like a hollowed out moon crater.

It’s too much to process. Over half of my life I have been un-explainable—medically speaking. And now it’s as if God (finally) showed me the answers. Truly, what I feel most is exhaustion. I have done it. I finally have peace.

All of the ramifications will wait for the morrow, and the next blog post…

Life in the Illuminated Aftermath

Life in the Illuminated Aftermath

The Search-Lorenzo’s Oil

The Search-Lorenzo’s Oil