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Join us each month to listen and learn from the experts – people living with rare conditions. We’ll discuss the challenges and triumphs of life with a rare genetic condition and hear from scientists working to develop new medicines. Honest conversations with the rare community, led by the patient advocacy team at BridgeBio. Subscribe below to catch each episode as it goes live.
Episodes
Tuesday May 31, 2022
Tuesday May 31, 2022
Andrea and Ryan’s son, Parker, is living with tuberous sclerosis complex (TSC). During an ultrasound in the thirty-fifth week of Andrea’s pregnancy, her doctor discovered that Parker had a cluster of tumors in his heart. These tumors, known as rhabdomyoma, were a sign that he might have TSC. Five days after he was born, Parker had heart surgery to remove these tumors and his diagnosis was confirmed. Living with TSC means that Parker and his parents never know when he might have seizures, where new tumors might appear, how these tumors might affect him or what other symptoms he might experience in the future. “Our job is to help prepare Parker for the hurdles he might encounter living with TSC,” Ryan explains.
Clayton Beard, Ph.D., Chief Scientific Officer at BridgeBio Gene Therapy, joins the conversation to provide an overview of TSC. He describes the many challenging symptoms that can come with TSC and he explains how TSC can result from either a spontaneous mutation or it can be inherited as an autosomal dominant trait.
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