How to Preserve Your Independence With Late-Onset Pompe Disease (LOPD)

Living with late-onset Pompe disease (LOPD), a condition characterized by the body’s inability to break down glycogen, means learning to listen to and work with your body in an entirely new way. Though it causes progressive muscle weakness, there are many ways to adjust your habits and lifestyle to protect your autonomy and quality of life.

For Heather Shorten, a social worker and the founder of the Pompe Alliance, who was diagnosed with LOPD in 2015, preserving your independence isn't about fighting against your evolving limitations. Instead, it’s about reframing, or changing how you think about those limits, so you can keep doing what you love.

Maintaining your independence starts with keeping your body moving. Shorten has made physical therapy a regular part of her life for years to stay strong and balanced. These sessions not only help her muscles, but also give her more energy for daily life.

Emanuele Barca, MD, PhD, a neuromuscular neurologist at NewYork-Presbyterian Columbia University Irving Medical Center in New York City, recommends “submaximal exercise,” staying active without pushing your muscles until they hurt. “If you don't use the muscle, the muscle tends to become more atrophic or weak,” he says. He suggests working with a physical therapist to learn exercises that promote muscle utilization without overdoing it or causing damage.

Movement is also key to keeping your bones healthy. Because LOPD can make your bones weaker over time, putting you at risk for osteoporosis, weight-bearing exercises are essential, says Dr. Barca. You don’t need a gym membership to see results: Simple activities like walking, dancing, hiking or tennis keep you upright and active, naturally strengthening your frame against the pull of gravity.

Talk to your physical therapist about whether the following movements may be helpful for you:

• Gentle stretching or yoga
• Tai chi
• Walking (using a cane or walker, if needed)
• Swimming or exercising in a pool
• Riding a bike (Shorten uses an adult tricycle for better balance)

Since LOPD can progress with time, it’s best to adapt your home before a real need arises. You may not need handrails along the stairwell or a walk-in shower today, but adding them now can help keep you safe later.

“Lay a plan for functionality and safety at home right away,” says Barca. “The goal is to prevent falls. Many of my patients have what we call limb-girdle weakness [in the shoulders and pelvic area], so they have difficulty climbing the stairs or reaching up to objects on high shelves.”

Shorten also suggests reframing these changes around your home. Instead of seeing a grab bar as a sign that you're getting worse, think of it as a tool that helps you stay safe and in charge of your own life.

If you feel tired all the time or short of breath when active, it may be a sign that your breathing muscles are weakening. The resulting challenge is often more noticeable during sleep because the diaphragm (the main muscle that helps you breathe) has to work harder when you lie down.

Barca suggests talking to your doctor about a pulmonary function test that checks your lungs while you’re both sitting and lying down. When you’re upright, gravity helps pull your abdominal organs down, clearing space for the diaphragm to expand. Lying flat removes this gravitational assistance, causing those organs to shift upward and press against the diaphragm, forcing an already weakened muscle to work much harder to take a breath. “It's sort of a little stress test for the diaphragm,” says Barca.

A cane, walker, scooter, or wheelchair can be a big emotional step. Shorten felt worried that people would judge her for using a wheelchair at the airport since her disability was “invisible.”

But she quickly realized that these tools provided freedom to spend time enjoying life with loved ones. “We would go to Disney World, and I would use a wheelchair there because there was no way I was going to be able to walk around the park all day,” she says. “This way, I wasn’t in pain, and it would be enjoyable.”

If your jaw feels tired at the end of the day, or if it’s hard to swallow, Shorten also suggests:

• Cut your food into very small pieces.
• Eat softer foods, like soups or smoothies.
• Take your time and don't rush through your meals.

For many people, driving represents freedom. Because LOPD can weaken the leg muscles and cause fatigue, you may worry about losing your ability to get behind the wheel.

If your medication is making you drowsy or if you’re noticing slower reaction time or feeling out of breath while driving, talk to your provider right away.

• Adequate protein consumption and gentle exercise, like walking or yoga, are essential for preserving independence with LOPD, helping to maintain muscle strength and bone density.
• Proactively modifying your living space with safety features or using adaptive mobility equipment, such as walkers or wheelchairs, can prevent falls and preserve the energy needed to enjoy daily activities.
• Take changes to your energy levels seriously. Monitor your respiratory health and address sleep-related issues to combat fatigue and diaphragm weakness.
• Adaptive equipment, from grab bars to driving tools, can help you maintain a high quality of life with Pompe disease.