My Body’s Check Engine Light Kept Flashing as I Sought My Diagnosis

I was sitting in the small waiting room at UCI Health’s ALS & Neuromuscular Center, in Orange County, California, early on a Monday morning. The date was Nov. 19, 2018, and as I waited for my name to be called, I thought back on the previous six months and all the serious symptoms that had brought me to this moment.

It is hard to explain to people that waking up every day, my body felt like it had just finished running a marathon. Although I would only take a few steps from the bed to the bathroom, my legs were weak and felt like Jell-O.

In September 2017, I had recently moved back home from Spokane, Washington, to Southern California, with my wife and mother-in-law, and we had found a second-floor apartment in the city of Irvine. One flight of stairs took us straight up to our place.

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Things seemed to be normal for the first six months, but I then started noticing that I was no longer able to walk up the stairs one leg after the other. My legs felt tired and extremely weak as I climbed the stairs every day. I struggled to use only my right leg. After a while, I needed to hold on to the handrail to help me ascend what seemed like a mountain.

Once at the top of the stairs, I was extremely fatigued and tired. I did not feel like this was normal for my body. I was unable to stand up from a chair, couch, or toilet without having to push off with my arms. When I would kneel down or sit on the floor, I could not get back up and found myself crawling to the couch or seeking out a chair, bench, or end table to help get some leverage while I pulled myself up with my arms.

At that point, I was becoming scared that something was really wrong with me. Maybe I had a pinched nerve or a slipped disk in my back? I even considered the possibility that I had ALS.

At night when I would lie down on my right side, I felt like I was short of breath. It seemed like I was shallow breathing for five minutes until I settled into bed. Every night, I’d disturb my wife at midnight, 2 a.m., and again at 4 a.m., because I needed to use the bathroom. Not getting any sleep made me even more tired day after day.

I knew something was wrong with my body, and I couldn’t use the excuse that I was turning 50. I heard echoes in my head saying that I just needed to exercise to feel better. People did not understand how I was truly feeling. All of these serious symptoms led me to seeing my primary care physician, then a neurologist, and finally a neuromuscular specialist.

Which brings me back to waiting in the lobby, where I had an appointment with Dr. Tahseen Mozaffar to get an official diagnosis. It was the moment I had been waiting for, and it seemed like it had taken an eternity. My body’s check engine light was flashing. I was stuck in neutral and going nowhere “On the Road to Pompe.”

Note: Pompe Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Pompe Disease News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Pompe disease.