When You Know Before You Know: The Road to My Pompe Disease Diagnosis

I remember the day vividly. It was an overcast morning on Saturday, Nov. 17, 2018. My wife and I hopped in the car and headed north toward Marina del Rey, California, giving me an hour to contemplate all the thoughts racing through my mind.

A few months earlier, my neurologist had done some tests, including a blood sample and a muscle biopsy in my upper left thigh. I had turned 50 back in March, and the lower body weakness I was experiencing wasn’t normal. The preliminary results indicated something called Pompe disease, so my neurologist referred me to a neuromuscular specialist.

I didn’t know anything about the disease, so I did some research on the internet. To my excitement, I discovered that the United Pompe Foundation was holding a patient meeting on Nov. 17, the weekend before my appointment with the neuromuscular specialist. I decided that if I ended up having Pompe disease, then I should probably attend the meeting to see what it’s all about.

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The meeting was held at the Marina del Rey Hotel, and being able to look at all the boats while walking on the boardwalk was a pleasant surprise. Inside, my wife and I were greeted at the doors to the banquet hall and presented with brochures about Pompe and a program for the day’s meeting. We sat at a round table near the podium and screen, with a younger lady and an older gentleman. As I looked over the program, I noticed that one of the presenters was Dr. Tahseen Mozaffar — the neuromuscular specialist I was seeing on Monday. I felt like things were falling into place.

After hearing a few presentations, it became obvious to me that I had Pompe disease. My entire life was starting to making sense. I was intrigued by the information and glad we attended the conference.

During the first break, I glanced around the room and noticed guys walking the same way that I walk — leaning backward with their arms behind their body. I thought I was the only one who walked that way! In that moment, I knew I had found my tribe and was where I was meant to be.

Then it was time to hear Dr. Mozaffar’s presentation. His talk and slideshow had me glued to the screen, my eyes and ears wide open. When he finished, it was time for lunch. As I started to stand up from my chair, he walked over to me and introduced himself as if he already knew who I was. He told me, “I have seen your muscle biopsy slide, and you have Pompe disease. I will see you in my office Monday morning.”

It was a surreal moment. Dr. Mozaffar then introduced the lady at our table as his clinical research coordinator at the University of California, Irvine. The older gentleman next to her was her dad, who also had Pompe disease. He looked at me and said, “From the moment I saw you walk through the doors and sit down, I could tell you had Pompe disease.” I knew my life was changing and I was heading down a different path than I’d ever imagined.

We enjoyed a nice lunch and listened to a presentation by a patient speaker. I was very excited about becoming an advocate for the community. It’s important for patients to speak up about their care and to spread awareness about Pompe disease. I felt like this was my calling — to spread hope and positivity to others.

The conference ended, and everything made sense. A weight had been lifted off of me, and I could finally focus on my future with Pompe. As my wife and I stopped to put gas in our car on the way home, I realized my journey was just beginning.

Come along and join me through my columns. Hop in the car, strap yourself in, turn on the radio, and enjoy the wild ride as I share my life with late-onset Pompe disease. There will be some bumps in the road, a few potholes, some hills, and some pit stops. With a rare disease, you never know what’s around the next corner.

Life can feel like a mystery for those of us with Pompe disease. We may be on different paths, but our journeys are similar. For that reason, allow me to share my experiences and adventures with you as I learn how to live life to the fullest in the slow lane. Although I have this disease, it doesn’t have me. Start your engines; we are 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.