Dwayne’s Pompe story

Hi everyone, my name is Dwayne; I will be 58 years old in March. I was diagnosed with Late Onset Pompe disease (LOPD) in November 2018 when I was 50. I live in Southern California in the City of Irvine with my wife and mother-in-law. I am a father to four sons, in which our oldest son passed from a brain tumor at age 22 about 7 months before my diagnosis. I am a grandpa and have 2 granddaughters, ages 3 and 5, and a new grandson born last Nov. My passion is to connect with others to spread Hope and Positivity about living with Pompe disease and putting a smile on people faces.

My wife says I got Pompe disease so that I could make more friends, and she is right! Looking back at my childhood, I know I was born with it.

Growing up, I was always a husky kid, had difficulty with physical activities, unable to do a pull-up, push-up or do the monkey bars. I was slow and uncoordinated and had no balance. Never could I roller skate or ride a skateboard. Most of the time it was just related to being overweight or out of shape as a teenager. As I entered my 20’s, I worked a fulltime job and eventually joined a gym to be healthier. I lost some weight but ended up having two knee surgeries that slowed me down even more.

In 2004, I went to my doctor to have a routine physical to apply for life insurance. While at the doctors, he noticed my liver enzymes, ALT and AST were high. Unfortunately, that denied me the life insurance that I was applying for at the time. No further tests were performed on my liver. Later that year, my father passed away from prostate cancer. After this, I went back to my doctor to have tests run to see if my prostate had any issues. My AST and ALT liver enzymes were still elevated so a liver biopsy was done. I had gallstones and my gallbladder was removed. Everything came back fine even though my liver enzymes were still elevated. The doctor just said “that’s just the way you are” at age 36.

It was not until I moved back to Southern California from Spokane, WA in 2017 that my more serious symptoms started to develop. My wife and I had moved into a second-floor apartment and after about 6 months I noticed that something was going on with my physical body. I realized that I was unable to walk up the staircase to the 2nd floor and had to grab the handrail, stepping up one leg at a time, with the same leg. I could not get up off the floor and had to push off with my arms to go from a seated position to standing like on a chair or the couch. I began to be more fatigued and exhausted by everyday activities, even noticing that when I laid down at night to sleep, my breathing was shallow.

Getting a diagnosis: In July 2018, I saw my primary care doctor who then sent me to see a Neurologist. It was then that I had an EMG and Nerve Conduction test done to determine what was going on. The results said I had a Myopathy or a muscle weakness disease. During that meeting, I shared with my doctor that I had trouble breathing when I was in the pool with water up to my neck, it felt like someone was stepping on my chest. At that moment, the doctor said, “that sounds like Pompe disease”. He ordered a Pompe blood test and a muscle biopsy. He then referred me to a Neuromuscular specialist and on November 19th, 2018, I was diagnosed with Late-onset Pompe disease. Looking back now since my diagnosis and my doctor discovering still high liver enzymes, I recalled they were also elevated as a teenager.

I was fortunate that it only took 6 months for my diagnosis, but once I received that diagnosis, I felt like a weight was lifted off my shoulders. So many things now made sense to me growing up as a kid. I was also relieved that there was a treatment for Pompe disease because I realized that many rare diseases do not have treatment.

Living with Pompe Disease: I had never heard of Pompe disease and started Googling it. To my shock, it said most patients don’t live past 50 years old. Wait, what? I was just diagnosed at age 50, is my time here on earth almost over? That’s not something you want to read about after getting a rare disease diagnosis. I had to do some research to find more information about Pompe and find others like me to understand my fate. Since there is no cure for Pompe disease, I had to focus on my mental health and ways to improve my quality of life.

After getting the diagnosis, we moved to a ground floor apartment so that I wouldn’t have to climb steps anymore. My doctor prescribed a BiPap machine to assist my breathing at night while laying down sleeping. I was accepted into a clinical trial fairly quickly right after diagnosis and began ERT (enzyme replacement therapy) one month after being diagnosed with Pompe Disease. I also began Physical Therapy and have done it on and off for the past 7 years. I have learned how to conserve energy and understand my body when it feels like I need to rest or to keep going. I refer to it as my hybrid mobility.

Doing more research about Pompe disease, I found it to be a metabolic disorder as well, known as Glycogen Storage disease Type 2. This led me to join a few social media and Facebook Pompe support groups in order to become part of a community and to make new friends. Having someone to talk to, listen to and understand what a Pompe patient feels and is going through, really helps with my mental health. I have attended Pompe conferences to meet other patients and families going through the same journey as me. In addition to learning more about Pompe and future research going on for the disease.

Since being diagnosed, it has changed my perspective on life and what really is important to me. I believe that life is about having experiences and going on adventures, making memories with friends and loved ones. Since October of 2022, I have gone to Hawaii-Oahu twice to snorkel, been to Cancun, Mexico to stand in the Caribbean Sea. Attended the AMDA Pompe conference in San Antonio, TX in 2024. Flew to Fort Lauderdale for a Miami Dolphins football game at Hard rock Stadium. We traveled to Miami for a Western Caribbean cruise to hold a sloth on Roatan for my birthday in 2024. To celebrate the New Year in 2026, we went on a Mexican Riveria cruise to Puerto Vallarta, Mazatlán & Cabo the first week of January. A third visit to Hawaii has been planned for October. I am Living my best Pompe life!

Being an Advocate for Pompe: With over 600 different gene mutations that can cause Pompe disease, there is not a one size fits all to treat a patient. Not all of us experience the same symptoms and we do not have the same abilities or lack thereof. There is such a wide range of diagnosis for Pompe disease. Newborn screening has even changed the landscape of the community. We must share and advocate for each other. What works for one, may not work for another. Sharing my experience within our community is my passion. There is so much hope for the future generation with newborn screening and better treatments.

This led me to become a patient speaker to share my story as a Pompe Champ. I am an MDA Ambassador with the Muscular Dystrophy Association to spread awareness about all Neuromuscular diseases. I was a writer with a column “On the Road to Pompe” on the Pompe Disease News website for a few years. I have also done video interviews for them. I have been featured on a couple of podcasts called: “On One Condition” and “The Chronic Truth”, where I was interviewed about living with Pompe disease. I continue to spread awareness about living with Pompe disease on social media. You can follow me on Instagram/FB @smashingpompe or Google – Pompe Champ! Heres to making it through another year!