CHAPTER 1
ANSWERS AND QUESTIONS
– JUSTIN –
How many hours have I spent in the waiting room of a doctor's office over the past thirteen years? I've lost count. During that time, I've endured an unending series of muscle biopsies, MRIs, blood tests, and various other forms of poking, probing, and prodding. And still no diagnosis I can depend on.
When I was in high school, my best friend, Patrick Gray, used to come with me to a lot of my appointments, but the distance between his home in Idaho and mine in Southern California makes that a little difficult now. Since moving to San Diego, I've often sat here alone, waiting for answers. Today, I'm grateful that my wife, Kirstin, is able to be with me.
The door leading back to the exam rooms opens, and Jennifer, my doctor's medical assistant, surveys the busy waiting room. We make eye contact, and even though she knows Kirstin and me well, she goes through the formality of calling my name.
"Justin Skeesuck, come on back."
By the time I get to my feet, with my leg braces and cane keeping me upright, Kirstin is already at the door. She knows I want to get there on my own, even if it takes me a while. As we continue down the hall, Kirstin and Jennifer slow their gait to allow me to keep up.
"I like your cane, Justin," Jennifer says as we approach the exam room. "Is it new?"
I look down at the dark purple wood. "Yeah, my best friend made it for me."
"It's beautiful."
When the weakness spread from my left leg to my right, Patrick purchased a four-foot slab of purpleheart wood and spent hours in his garage with a jigsaw and hand sanding tools, fashioning a beautiful cane. It has become a cherished symbol of our lifelong friendship.
"The doctor will be with you in a few minutes," Jennifer says as my wife and I take our seats. Smiling, she closes the door softly.
Kirstin has come prepared for the wait. She pulls a magazine out of her purse and begins to thumb through the pages to pass the time. I settle into my chair, lean my head back against the wall, and close my eyes as time seems to stand still.
"It's taking longer than normal," Kirstin says after a while, as she replaces the magazine in her purse.
"There were a lot of people in the waiting room today," I reply. "I'm just hoping that when he gets here he has some answers this time."
For years, my team of neurologists has struggled to identify what exactly is going on in my body. Though my symptoms are similar to those of some well-known diseases — such as ALS — they don't perfectly align with any of them. We're hoping this latest round of tests, blood work, and muscle biopsies will bring a breakthrough — anything that will give me some insight into what the future might hold.
I would be satisfied at this point just to have a name for what I have. My team of physicians has gone through four diagnoses so far, and all have proved to be incorrect. Whatever I have is so rare, they aren't sure it even has a name.
The doctor finally walks in and takes a seat on the rolling stool. His white lab coat hangs loosely over a tweed sport coat, and his salt-and-pepper hair is combed neatly. He glances at my chart in his hands and looks at Kirstin and me through his large, metal-rimmed glasses.
"Hey, guys, how are you doing today?" he says with a faint hint of a smile.
"Hoping for some answers," I reply with a chuckle, "but expecting more questions."
"Fair enough. Well, today we have a little bit of both."
Never one for chitchat, he quickly begins his exam. Working his way from head to toe, he checks my eyes, listens to my heart and lungs, checks my blood pressure, tests my reflexes, and probes for any pain in my joints. He finishes the exam by testing my hand strength to make sure the weakness hasn't spread.
Seemingly satisfied, he says, "Let's head down the hall."
We follow him, as we have dozens of times before, to finish my appointment in the quiet of his office, a surprisingly small space filled with a large desk in the center surrounded by walls of bookshelves full of medical journals and books with names I can't pronounce. His diploma from Harvard and several framed awards have a prominent place on the wall.
"We've never been more certain of a diagnosis than we are now," he says as he settles into his desk chair and we sit down across from him.
"All right," I say. "Does it have a name?"
The doctor's face tightens almost imperceptibly. "We're pretty certain you have what is called multifocal acquired motor axonopathy. Or MAMA for short."
"What exactly is it?" Kirstin asks.
"It's similar in many respects to ALS. Which is why Justin was misdiagnosed the first time around."
Turning to me, he continues, "Your immune system is attacking your nervous system, and your motor nerves are shutting down. This disease doesn't affect your sensory nerves, just your ability to move. Normally, it hinders limited portions of a person's body, but in your case, it has attacked everything from your waist down. That's one of the reasons you've been so difficult to diagnose. MAMA typically starts in the hands. To see it affect such a large portion of the body is quite rare."
My wife leans forward and grabs my hand. "Will it get worse? Do we know how long we have?"
"Like I said, we have both answers and questions today ..."
He pauses for a moment before continuing.
"It will get worse over time. To what degree, we still aren't sure."
"So, what's the deal?" I ask.
"It's likely this disease will result in complications that will lead to your death."
Kirstin takes a slow, deep breath as her eyes well up with tears.
This isn't the first time I've been told I'm going to die. When I was originally diagnosed with ALS, the doctor told me I had four years to live. That was nearly nine years ago. This time there's no known life expectancy, but the prognosis feels different; it feels more real.
"Do we know what causes it?" I ask.
"Well, we don't know precise cause and effect, but sometimes traumatic events can trigger certain diseases."
He pauses again to gather his thoughts and then continues. "Our best guess is that the disease was dormant...
