On Rare

“He’s a fighter and takes on whatever is thrown his way.“ Parker is living with tuberous sclerosis complex (TSC).

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.

“Hi, I’m nine years old. I have achondroplasia. Would you like to play?” A resilient, athletic child lives with achondroplasia

Inês’ 9-year-old daughter, Clara, is living with achondroplasia. In this episode of On Rare, Inês describes what it was like to learn that her daughter has achondroplasia. She describes the steps she took to get Clara the medical care she needed in the early years of her life and how, in the midst of this stress, she remembered to enjoy being a mother to her newborn daughter. Finally, she tells us how she has watched Clara become a resilient, athletic child who has learned to compete against herself in a world that often caters to taller individuals.

Daniela Rogoff, VP of clinical development at BridgeBio’s affiliate company QED Therapeutics, joins the conversation to provide an overview of achondroplasia and to explain how it affects bone growth and the body overall.

“I am not going to let cancer stop me.” Driven and determined while living with cholangiocarcinoma

In her 20s, Chaundra believed she was living the dream with a graduate degree and a new, exciting job. Unfortunately, at the age of 29, results from a routine blood test led to a diagnosis of cholangiocarcinoma. Six years later, Chaundra has endured chemotherapy treatments, surgeries, biopsies, multiple clinical trials and much more. Despite her diagnosis, Chaundra is determined and driven. She has taken on new professional opportunities in different cities, has been promoted in her work, fallen in love, and even, run for political office and won.” She tells David Rintell, head of patient advocacy at BridgeBio, “I am not going to let cancer stop me.”

 

Dr. Carl Dambkowski, chief medical officer at QED Therapeutics, an affiliate company of BridgeBio, also joins the conversation to describe cholangiocarcinoma, explain why it is difficult to detect and diagnose, and provide updates on how the recent advances in genetic testing has changed the treatment landscape for people with cholangiocarcinoma.

“I just want new skin, Mom.” Courage in the face of a painful life with epidermolysis bullosa (EB)

Brady is a five-year-old who is living with recessive dystrophic epidermolysis bullosa (RDEB), a rare genetic skin condition. His mother, Eileen, describes what it was like to discover that Brady has RDEB and tells us how she is both the mother of a brave, happy little boy and the nurse who causes him pain during his daily wound care. RDEB has changed their lives.

Sanuj Ravindran, M.D., executive chairman of BridgeBio’s Phoenix Tissue Repair, joins the conversation to talk about the condition and explain how EB affects the body internally and externally.

“Something was not right with my muscles.” LGMD2i and the physical struggle to do basic life activities

John and Tony are living with limb girdle muscular dystrophy type 2i (LGMD2i), a rare genetic condition. And while they did not know each other before their joint podcast interview, their stories mirror each other in many ways. They tell us about their challenging and long diagnostic journeys and how LGMD2i has changed the trajectory of their lives and forced them to navigate the world in ways that are often isolating.

Douglas Sproule, M.D., M.Sc., chief medical officer of BridgeBio’s ML Bio Solutions explains how muscles are damaged in people with muscular dystrophy and how this damage affects the body overall.

BridgeBio Introduces - On Rare

BridgeBio Pharma introduces On Rare, a podcast about people living with rare conditions.