Hi everyone, my name is Dwayne; I am 57 years old. I was diagnosed with Late Onset Pompe disease (LOPD) in November 2018 when I was 50 years old. I live in Southern California in the City of Irvine with my wife and mother-in-law. I am a father to four sons, still mourning the loss of our oldest son who passed away from a brain tumor at age 22, about 7 months before my diagnosis. I am a grandpa and have 2 granddaughters, age 2 and almost 4. My passion is to connect with others to spread Hope and Positivity about living with Pompe disease and putting a smile on people faces.
Dwayne’s Pompe story
My wife says I got Pompe disease so that I could make more friends, and she is right! Looking back, 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. 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 tests 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 like to think that everything in life happens for a reason, and I feel blessed that I was in the right place at the right time.
After diagnosis, my wife and I moved to a ground floor apartment. My doctor also prescribed a BiPap machine to assist my breathing, when sleeping. I was accepted into a clinical trial quickly, and began ERT one month from being diagnosed with Pompe Disease. I also began Physical Therapy and have done it on and off for the past 6 years. I have learned to understand how my body feels when I need to rest or to work out.
Once I had a diagnosis, I joined many Facebook Pompe support groups to become part of a community and to make friends. Having someone to talk to, listen to, and understand, really helps with my mental health. I have attended Pompe conferences to meet other patients and families going through the same journey as me. The conferences have also helped me learn more about Pompe and the on-going research for the disease.
Since being diagnosed, my perspective on life and what really is important to me, has changed. 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, been to Cancun and San Antonio and flew to Fort Lauderdale for a Miami Dolphins football game at Hard Rock Stadium. I traveled to Miami for a Western Caribbean cruise to hold a sloth on Roatan for my birthday last year. We even have plans for a Mexican Riveria cruise in Jan of 2026.
Being an Advocate for Pompe
With over 600 different gene mutations that can cause Pompe disease, there is not “one size that fits all “to treat a patient. Not all of us experience the same symptoms and we do not all have the same abilities or lack thereof. There is such a wide range of diagnosis for Pompe disease. 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 future generations with newborn screening and earlier, better treatments.
With that being said, I became a patient speaker to share my story. I am an MDA Ambassador with the Muscular Dystrophy Association to spread awareness about all neuromuscular diseases. I am a writer who has written a column “On the Road to Pompe” on the Pompe Disease News website for a few years. I don’t want Pompe disease to be in the driver’s seat of my life. I continue to spread awareness about living with Pompe disease on social media.
Source: Dwayne – you can follow me here and on Instagram @smashingpompe
