Understanding & Living with Pompe Disease
June 3, 2014
Positively Impacting The Lives Of People With Pompe
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.
Behind the Mystery is a special segment dedicated to revolutionizing the way the health care system works for those suffering from a rare and genetic disorder.
Behind the Mystery takes a closer look at one of the two types of Polycystic Kidney disease. Autosomal Dominant Polycystic Kidney Disease, or ADPKD, is a rare, genetic condition.
Behind the Mystery takes a closer look at Blastic Plasmacytoid Dendritic Cell Neoplasm, a rare disease that is often misdiagnosed and affects at least 500 to 1,000 patients each year in the U.S.