Challenge: Pompe Disease is a rare genetic disease occurring in 5.3 of every 100,000 births. Neuromuscular disability is progressive and unrelenting. It often takes more than a decade to diagnose, therefore timely referral to a specialist is needed to prevent profound disability

Strategic Approach: Case history detail aids were developed depicting the prolonged diagnostic odyssey of real Pompe patients from both the patients’ and HCPs’ perspectives helping nonspecialists to better understand the clinical dilemmas faced when managing a patient without a definitive diagnosis