Understanding & Living with Pompe Disease

It’s a devastating medical mystery:  random symptoms that present in many common diseases; low awareness and misconceptions among physicians; rare incidence and lack of awareness about the disease’s existence.  Chances are you’ve never heard of Pompe disease – a degenerative, genetic neuromuscular disease.  But thanks to specialists like Dr. Barry Byrne, medical geneticist and Genzyme, leader in discovering and delivering transformative therapies for patients with rare genetic conditions, awareness of Pompe symptoms and disease management is growing.  By increasing awareness, physicians can achieve earlier diagnoses and patients can be armed with self-advocacy and better quality of life.