Taking stock of my life 5 years after a Pompe disease diagnosis

It's the people you meet along the way that make the journey special

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by Dwayne Wilson |

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It seems like just the other day when I was sitting in the waiting room at the UCI Health ALS and Neuromuscular Center in Orange, California. I was meeting with a neuromuscular specialist for the first time to receive my diagnosis of late-onset Pompe disease. I will never forget that day, Nov. 19, 2018.

Being diagnosed with a rare disease involves so many uncertainties and unknowns. How fast or slow will the disease affect me? What would my future look like from that day forward? I didn’t know the answers, all I could do was take it one day at a time.

Day after day, I began learning all I could about Pompe disease. I started biweekly infusions of enzyme replacement therapy. I scheduled physical therapy appointments and joined Pompe disease support groups on social media. All of these things helped to put me “on the road to Pompe.”

I put the pedal to the metal and headed out on the highway without looking back. I’ve had ups and downs along the journey, but there have been more adventures and experiences than I thought possible.

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Always looking forward

One day, I drove into a parking lot by Laguna Beach Cliffs at Heisler Park to watch the sunset over the Pacific Ocean. At that moment, I realized that it had been five years since I was diagnosed with Pompe disease — five years of traveling this rare disease road.

A man with glasses and wearing a tie-dye T-shirt colored in light blue and green smiles while holding up a small wooden plaque with a sloth on it.

Dwayne Wilson shows off his wooden sloth plaque, a gift from dear friends. (Photo by Dwayne Wilson)

Technically speaking, I was born with two gene mutations, as Pompe is an inherited genetic disease. Therefore, I’ve had Pompe my entire life, or 55 years. It took an electromyography and a nerve conduction study to be diagnosed. I also had a muscle biopsy and a blood test with a neurologist, and was then seen by the neuromuscular specialist.

I’m grateful and thankful for all the people I’ve met on the road to Pompe. I decided to celebrate with a five-year anniversary theme of wood.

I was given a handmade wooden plaque with a sloth on it, carved by our good friends Kent and Jennifer Graham. It is very special to me. It’s the people you meet along the journey that make it special.

I don’t know what my future holds, but hopefully, I’ll make it to my 10-year anniversary and beyond. I keep moving forward on this 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.


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