AdvocacyRSS2 days ago
Bruce Campbell, who has Pompe disease, is competing in the Absa Cape Epic, one of the world's toughest mountain biking races. Despite living with a rare muscle disease that affects his strength and endurance, he decided to take on this extreme athletic challenge. His story shows how people with rare diseases can push their limits and achieve goals they set for themselves.
WHY IT MATTERSThis story demonstrates that people living with Pompe disease can maintain active lifestyles and pursue challenging physical goals, which may inspire patients to discuss realistic exercise options with their care team.
NewsRSS2 days ago
A person with Pompe disease shares how their weight challenges changed over time. As a child, they couldn't gain weight and stayed at 60 pounds. Now as an adult at 35 years old, they face the opposite problem and struggle to lose weight. This shows how Pompe disease can affect the body differently at different life stages.
WHY IT MATTERSThis personal account highlights how Pompe disease's metabolic effects evolve with age and treatment, which can help newly diagnosed patients and families understand what to expect as they grow older.
ResearchPUBMEDApr 3
Researchers reviewed studies from the past 10 years about how artificial intelligence and connected care technologies can help patients with rare diseases, especially lysosomal storage disorders (LSDs)—conditions where the body can't break down certain substances properly. The review found that while these digital health tools show promise for helping doctors diagnose and manage these complex diseases, there are still big gaps in the research and not enough real-world examples of these technologies being used in patient care.
WHY IT MATTERSIf you have a lysosomal storage disorder, this research could lead to faster diagnosis, better remote monitoring through connected devices, and AI tools that help your doctors catch problems earlier—potentially improving your long-term care and quality of life.
NewsUNITERAREApr 3
The PAN Foundation's financial assistance program for Pompe disease patients is currently closed and not accepting new applications. This program previously provided up to $12,000 per year to help eligible patients pay for treatment costs. The fund status changed on April 2, 2026, and patients should check the PAN Foundation website for updates on when it might reopen.
WHY IT MATTERSPompe disease patients who rely on financial assistance to afford enzyme replacement therapy or other treatments now have one fewer funding option available, which could impact their ability to access care.