Four cases of infantile-onset Pompe disease recently reported in Australia help shed light on some of the unique challenges care providers face in diagnosing and managing this genetic disease. Early recognition of the disease’s signs and prompt initiation of enzyme replacement therapy (ERT) are critical to ensuring the best patient outcome…
symptoms
Recent Posts
- How a Pompe disease diagnosis both tested and transformed our marriage
- New Phase 2 trial tests oral add-on therapy for late-onset Pompe disease
- My journey of learning how to explain Pompe disease to others
- Early trial of late-onset Pompe disease drug yields positive results
- Part of our journey was learning how to talk to our children about Pompe