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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.
On Rare
Honest conversations with the rare community, led by our hosts, David Rintell, head of patient advocacy at BridgeBio, and Mandy Rohrig, associate director of patient advocacy at BridgeBio Gene Therapy.
Episodes
Monday Oct 31, 2022
Monday Oct 31, 2022
The birth of Jihan’s first daughter, Bella, was traumatic. She and her husband were totally unprepared for the diagnosis of congenital adrenal hyperplasia (CAH) and struggled with the way the news was delivered to them. Their health care providers failed to provide adequate instructions about the care of a baby who is fragile due to adrenal insufficiency. The first two weeks of Bella’s life were frightening, as her parents tried to get the care that she needed and learn how to care for her at home. Twelve years later, Jihan’s youngest daughter, Alessia was also born with CAH. This time they were prepared.
Adam Shaywitz, endocrinologist, and Chief Medical Officer at BridgeBio Gene Therapy provides an overview of CAH. He describes how CAH affects the adrenal glands, two tiny walnut sized organs which rest on top of the kidneys. The adrenal glands produce critical hormones which regulate blood pressure and play a critical role in how the body manages stress. With too little of these important hormones, patients can go into adrenal crisis, which can be life threatening.
Wednesday Oct 05, 2022
Wednesday Oct 05, 2022
At birth, Jessica’s physician noticed she had low levels of calcium. Genetic testing later confirmed that she had autosomal dominant hypocalcemia type 1 (ADH1) with a calcium receptor (CaSR) gene mutation. Jessica had complications due to ADH1 quite early in life. Before Jessica started kindergarten, she had painfully passed her first kidney stone. Fiercely protective and attentive, Jessica’s mother quit her job to take care of Jessica full-time. She researched and provided Jessica with the latest cutting-edge treatments.
Despite the challenges of living with ADH1, Jessica has done well. She is a hopeful, new mother who is ready to do whatever it takes to take care of her child. She has a graduate degree and works to provide mental health care for her clients.
Mary Scott Roberts, M.D., senior director of clinical development at BridgeBio Cardiorenal, joins to provide an overview of ADH1. She describes how low or elevated levels of calcium can cause muscle cramps, brain fog, fatigue, seizures, and other symptoms in individuals living with ADH1.
Thursday Sep 01, 2022
Thursday Sep 01, 2022
In this month’s episode of On Rare, David Rintell speaks with Cliff and Noreen, the parents of Dylan, a playful, adopted, 15-year-old living with Canavan disease. It’s a heartwarming, funny and poignant conversation about Dylan’s life, the challenges of providing constant care for a severely disabled child and the joy he brings them. As parents of a child with an ultra-rare, fatal genetic condition, Cliff and Noreen live day by day. As Cliff explains, “We focus on what we have now with Dylan and the good times.”
Sunday Jul 31, 2022
Sunday Jul 31, 2022
In this month’s episode of On Rare, David Rintell speaks with Alex, 18-year-old whose mother is living with cholangiocarcinoma. It’s a moving conversation about a teenager facing the challenges of everyday life while also handling the possibility of life without her mother. We hear what it is like for this young woman to watch her mother struggle to receive a diagnosis, finally learn she has cholangiocarcinoma, and seek treatment options.
Thursday Jun 30, 2022
I’m a salt waster, 1 in 20,000. You don’t let it run you, you run it.
Thursday Jun 30, 2022
Thursday Jun 30, 2022
In this month’s episode of On Rare, David Rintell speaks with Erica, who is living with congenital adrenal hyperplasia (CAH). Erica describes what it has been like to live with CAH and how she decided to manage her condition and live life on her own terms. With humor and honesty, she explains how she’s gone from being a rebellious child to a leader and advocate in the CAH community. Kamal Bharucha, vice president of clinical development at BridgeBio’s affiliate, Adrenas, joins the conversation to provide an overview of the genetic disease and explain how it is diagnosed and how it impacts the body.
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.
Friday Apr 29, 2022
Friday Apr 29, 2022
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.
Thursday Mar 31, 2022
Thursday Mar 31, 2022
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.