as published in LIFE at the OC Register on April 4, 2012:
"Why are you limping?"
It's a question I've fended for years, but now I have an answer.
Autumn's family with Newport Beach's Augie Nieto, a hero in the ALS community. His foundation "Augie's Quest" has raised over $30 million for ALS research and is close to a cure. He was ranked OC Register's Top 30 Most Interesting people of 2011.
When people notice the slight delay of gait in my left foot, frequently they ask. And at that moment, I face the quandary that all who are labeled "disabled" face: Do they really want to know?
Now that I've been diagnosed with Charcot-Marie-Tooth disease – the "biggest disease no one's ever heard of," as nicknamed in the CMT community – I'm not always sure how to respond. I mean really, how much time do you have?
It started when I was a college student and noticed that simple tasks – like opening a gas cap and buttoning my coat – had become increasingly difficult. Not one to flee to the doctor at the first symptom, I waited five years until my ability to play the piano and sign my name to a check had become stilted and painful before concluding I must have had carpel tunnel syndrome and that maybe it was time for surgery. By that time I was married and expecting my second child.
Abnormal blood work and muscle test results propelled me through the specialist chain of command. After a grueling and extensive diagnostic period spent at USC's neuromuscular center in 2002, I was diagnosed with "idiopathic polyneuropathy" in my hands and feet. Idiopathic meaning the cause is unknown, polyneuropathy identifying the neuromuscular disease that causes gradual sensory-motor nerve function loss and muscular atrophy in the extremities.
Neuropathy most commonly affects patients with diabetes, HIV or those who have endured chemo, not an otherwise healthy 23-year-old who just thought she was klutzy.
I've spent the past 10 years playing "stump the doctor," as I would cycle through offices sharing the effects of my increasing nerve and muscle loss, only to receive puzzled looks and unconfirmed hypothesis. As my husband and I grew our family to four kids, prior misdiagnoses of "possible MS" and "early signs of ALS" emotionally drained me as I would return home, and in my research stumble upon scenarios in which kids cared for their parents as they witnessed their demise.Click here to read the rest:
CMT: The most common disease no one's heard of - OC Moms - The Orange County Register
