A conversation about living with Pompe disease and diabetes

Sean Doerr is sometimes known in the Pompe community as the man with the ambulance-turned-motor home, which he affectionally calls the “PompeTrek.” Sean has Pompe disease and type 1 diabetes. I recently spoke with him via video chat about what it’s like living with these two chronic illnesses. Excerpts of our conversation follow.

AW: Can you describe what getting your two diagnoses was like?

SD: I was diagnosed with type 1 diabetes at 12 years old. When I was 17, my father suddenly collapsed from Guillain-Barre syndrome. He’s only a Pompe carrier but has high CK [creatine kinase] levels and still experiences muscle cramps and pain in his arms and legs.

Due to his mysterious muscle issues, when I was 18, a neurologist ran CK and EMG [electromyography] tests on me and found high CK levels and myopathy. My diabetes endocrinologist always tracked me and constantly encouraged me to keep seeking new specialists for a diagnosis.

Even when my acid maltase levels came back low, I wasn’t convinced [I had Pompe disease] until I heard another Pompe patient discussing his inability to do situps. I could never do situps and thought, wait, I may have this. My gene sequencing returned [from genetic testing], making my Pompe diagnosis official at the age of 28, after seeing a half-dozen specialists and 15 years of searching.

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How’s your diabetes today?

I’m currently on a USB-charged pump connected to me 24/7. I’m super insulin-resistant and go through insulin at a rate that can be twice as fast as others.

I quickly learned to take ownership of it, a recurring theme since childhood. With diabetes, if I don’t take control, no one else will. This mindset transitioned to Pompe upon my diagnosis.

What’s diet monitoring like?

For diabetes, I count carbohydrates. Knowing how much insulin to take based on grams of carbohydrate intake has become second nature to me. I’ll look at a rice bowl and think 60 carbs. With my pump, I don’t have to determine the exact insulin dosing ratio. I manually enter the carbs about 30 minutes before consumption. My Bluetooth glucose sensor connects to my pump, relaying levels every five minutes. If I don’t take enough insulin, if I experience stress, or if the pump site/port/cannula goes bad, I’ll experience thirstiness, frequent urination, and fatigue. If I take too much insulin, I’ll get sweaty, shaky, and lightheaded.

Diabetes control is an art, not a science. Although glucose monitors show current levels, it’s hard to time when sugar spikes after eating, and by how much. If I eat something highly glycemic, my sugar spikes right away. But for some high-carb foods like pasta, carbs don’t show up immediately. My blood sugar may be fine. Hours later, it’ll trend up. It’s a bit of a guessing game.

It’d be great if I didn’t have to count carbs or time insulin intake, like dummy-proofing patient self-management. Moreover, equipment and logistical issues, such as running out of insulin, and life (exercise, stress, adrenaline) affect insulin efficiency and efficacy.

Exercise can make my blood sugar drop. If I’m dehydrated, my blood sugar doesn’t really drop the same and “stacking” occurs, where my blood sugar may be stubbornly elevated for hours; then, suddenly, insulin kicks in, resulting in low blood sugar, which requires immediate attention.

How do you live with Pompe disease and diabetes?

My early diabetes diagnosis was my motivation to make the most of life. A functional diabetes cure isn’t something that’s likely to occur in my lifetime. Luckily, because of science, I can live a normal life with a few adjustments.

My Pompe diagnosis at 28 wasn’t the same feeling. I realized that I had, and always will have, limitations that hinder my day-to-day enjoyment. Seven years in, I’m still learning how my body is affected. I still find that the hardest part is not knowing what the future holds in terms of progression.

I seem to observe a recurring theme with Pompe: Mentally and physically, it’s a disease of adaptation for me. The disease creates limitations, so I must push forward and work around them. I’m understanding the fatigue more now, both physically and mentally.

I’m renovating my house and have been skin-coating and painting it. I finally finished sanding the walls, and I’m on to priming and painting. Usually, priming and painting take a few weeks. I’m four months in. While this task drags on and I struggle with pain, limitations, and adaptations, I’ll quietly get there some day, so I can look back and think about the journey — a milestone I accomplished on my own.

Outside of my job, I also currently serve as a paid, on-call firefighter. Firefighting is an extension of me not wanting to say I can’t do something. If I can do it, let’s go for it.

Immediately after my diagnosis, I went through the fire academy, initially without the intention of becoming a firefighter. It was tough mentally and physically. I recall performing squats while tying rope knots. I struggled to churn out a few squats. Classmates pushed them out like machines while staring at my subpar performance. My 100% wasn’t their 100%, but my instructor was good enough to tell me, “If you give it your all, we’re good.”

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.