Perspectives of The Pompe World

Dwayne was diagnosed with Late Onset Pompe Disease later in life. Growing up, as a child, he explains that he was not athletic and that it was chalked up to being overweight as a child. After high school, he made changes to his health and lifestyle, losing a great amount of weight and being more active. Despite these changes, he still had a gradual decline in his abilities.

The first sign to raise an eyebrow was in his mid-thirties when some routine lab work showed that he had elevated liver enzymes. He recalls that these numbers were elevated as a teen as well, but had never been investigated. Later that year, his doctor decided to remove his gallbladder and do a liver biopsy which gave no further answers. Dwayne was then told “this is just the way you are.”

The years passed and some every day movements became increasingly hard for him. He could not get up from a chair without utilizing his arms to push or needing help. He had great difficulty navigating the stairs to his second floor apartment, taking one step at a time with both feet and needing to use the handrail. He recalls having to take breaks during his climb to catch his breath. Dwayne also felt chronically fatigued and had issues breathing. At only 50, he felt sure this was not normal. And he was right, it was Pompe Disease. Thankfully, his doctor was fairly familiar with Pompe Disease and suggested it as something to test for.

Dwayne shares his reflection as follows:

“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 my diagnosis, there was a series of events that helped me feel so much better. We moved out of our second story apartment to a ground floor apartment, so I didn’t have to worry about climbing the stairs. My doctor prescribed me a BiPap (bilevel positive air pressure) machine to use at night. This really improved my sleep and I finally started to get a full night’s rest and stay in bed all night long. Within 2 weeks, I was accepted into a clinical trial for people living with Pompe disease and I started on ERT treatment a month after being diagnosed. I also started physical therapy, which really helped with my weak muscles and aches and pains. I joined a bunch of Facebook Pompe Support groups and starting learning from those with more experience than me. I was the newbie and wanted to learn more about living with Pompe.

Going through the diagnosis and this whole journey has changed my whole perspective on life and what is important to me. Life is about the Adventures & Experiences. Making memories with loved ones, making new friends, and enriching your life and others lives along the way. I enjoy going to basketball, hockey, and baseball games. I also enjoy going to Christian concerts. I love going to the beach where I use one of my ski poles, from a onetime ski trip, to keep me balanced when I am walking on the sand and to get my feet wet in the ocean water. I love the sound of the waves crashing on the shore. I even bought an inflatable paddle board, and my goal is to be able to stand on it in the water one day. To start with, I inflated it at home and practiced standing on it to improve my balance, I have stood up once and fell back in. I also love to fish. I just need to find someone with a fishing boat so I can fish out at sea or on the lake!

Since being diagnosed and going on treatment, I have been able to improve in certain areas. Getting off the floor was almost impossible without a chair or stool or something next to me to help pull and push myself up. But I am now able to lie on the floor on my back and then get myself up, by going into a cat position and then standing up unaided. Like the process of standing up on a paddleboard. I really wanted to do this as I felt a lot of people lose confidence if they fall and can’t get themselves back up. I think confidence is very important as it allows you to keep doing the things you love.

I am very connected to the Pompe community, and I am passionate about raising awareness of Pompe disease. Team Hope for Pompe was the #1 fundraising team for the 2019 Los Angeles MDA Muscle Walk. I recently became a Patient Speaker for a Biotechnology Company that helps develop & research treatment for metabolic diseases. I had an opportunity to be a part of the World Symposium last Feb. in San Diego and that has been a highlight on my Journey.

It has been a blessing to be diagnosed and go into treatment so quickly, but I know it takes years & years for a lot of people to get a diagnosis. An amazing moment for me was when I went to my first Pompe conference the weekend before I got my diagnosis and saw other guys walking like me, leaning backwards. I thought I was the only one that walked funny like that. I then realized I wasn’t alone. I felt like I belonged. I had found my tribe.

Being diagnosed with Pompe has been a positive experience for me but I still find it hard that my disability is invisible. People see this big, tall guy, who walks funny and wonder why he is making a fuss about sitting at a table not a booth or needs to use an elevator and can’t take the stairs. The truth is, I don’t have the strength in my legs to get up from a booth or climb stairs routinely. We recently took our sons to Disney Land last summer, and I chose to use my electric wheelchair as I knew that all that walking all day long would wear me out – not just for that day, but for several days after. But I couldn’t help but feel and hear people look and talk about me thinking, How lazy is that guy, he should get up and walk, he looks fine.’”

Dwayne does not let this get him down and is a fierce advocate in this community. He is such a bright spot for all who follow his journey and is truly an example of all the hope there is for a life with this disease. He tells his story often to spread awareness and is a new columnist for http://www.pompediseasenews.com where he will begin to share his perspective as an adult patient living with Late Onset Pompe Disease.

Thank you Dwayne for all you do and for sharing your story with others!