November 13, 2015
Tyrosinemia: Ultra-Rare, Life-Threatening, and Treatable
If the odds were 1 in 100,000 you were that one, well…. most times you’d consider yourself lucky. But what if you were 1 in 100,000 born with one of the rarest, most deadly diseases known to medicine? Those are the odds with Hereditary Tyrosinemia Type 1, or HT-1 – odds no one wants to face. And even though it only affects a few hundred people in the entire world, don’t think YOU don’t need to know about this mysterious genetic disorder. Listen as the Miller family tells a harrowing story of multiple diagnoses, all while the clock was ticking against the life of their newborn son – to the point where little Evan Miller was given less than 48 hours to live. Then hear Dr. Muge Gucsavas Calikoglu Associate Professor of Pediatrics University of North Carolina Healthcare… explain what symptoms to look for, what to do about them, and what treatment options are available to today’s courageous young HT-1 patients. Find out what advocates and experts are doing to make sure EVERY State has the critical Succinylac
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.