Since she was a young girl, Renae has lived with a strange disease that caused symptoms like lesions and hearing loss. But she was unaware of what it was until she was diagnosed with plasminogen deficiency type one (PLGD-1) at the age of 50. Medical Stories catches up with Renae in Grand Rapids, Michigan, as she describes the experience of growing up with a rare disorder that remained a mystery for most of her life. Later, in Needville, Texas, parents Jennifer and Brian are helping their 4-year-old child, Aaron, deal with Smith-Magenis syndrome (SMS), a genetic disorder that can cause autism and issues with speaking and sleeping. The couple recount to Medical Stories what it was like navigating Aaron's challenges associated with the disorder, shedding light on the significant role played by his older sister, Abigail, in his progress. This episode also features in-depth commentary from renowned experts: Amy D. Shapiro, MD, Chief Executive Officer and Co-Medical Director of Indiana Hemophilia and Thrombosis Center; Kevin A. Kaplan, MD, and Lorraine Potocki, MD, FACMG, Professors, Molecular and Human Genetics at Baylor College of Medicine, joined by Diane E. Treadwell-Deering, Associate Professor in TCH Psychiatry.
Broadcast In: English Duration: 0:26:44