22 episodes

We talk to rare disease experts about treatments, trials, and new developments, and rare disease patients share their experiences and advice for staying positive in the face of diagnosis. Learn more about the RareShare.org community, and how you can get involved. Get in touch if you are an expert or patient who would like to be on the podcast! Email us at rgpodcast@raregenomics.org

Rare Genomics / RareShare Podcast Series: Ask the Expert & Patient Navigation Rare Genomics Institute

    • Health & Fitness

We talk to rare disease experts about treatments, trials, and new developments, and rare disease patients share their experiences and advice for staying positive in the face of diagnosis. Learn more about the RareShare.org community, and how you can get involved. Get in touch if you are an expert or patient who would like to be on the podcast! Email us at rgpodcast@raregenomics.org

    Don’t Sell Yourself Short: Having a Career after a Rare Disease Diagnosis

    Don’t Sell Yourself Short: Having a Career after a Rare Disease Diagnosis

    No one expects to get a rare disease diagnosis at the start of a budding career, then get fired while getting treatment, but that’s what happened to Candace Lerman in 2014. Now, 6 years later, inspired by her own quest for effective treatment, Candace is a lawyer fighting for new treatment approvals on Capitol Hill. Candace tells us about her experience as a rare disease patient, how she lost her job then went to law school, and how she is assisting nonprofits in the rare disease space. www.rareshare.org

    • 34 min
    How to Get Answers From Rare Disease Experts: The Rare Genomics Task Force (RGTF)

    How to Get Answers From Rare Disease Experts: The Rare Genomics Task Force (RGTF)

    Arvin Gouw, a scientist at Stanford University and a founding member of Rare Genomics Insitute, chats with us about how patients and caregivers can get answers to questions about rare diseases, clinical trials, symptoms, and more, from experts and researchers in the field with the Rare Genomics Task Force. Visit RareShare.org to find your rare disease community.

    • 17 min
    3 Perspectives on Facing a Rare Disease: A Patient, a Caregiver, and an Expert Discuss Diagnosis and Treatment of Pulmonary Fibrosis

    3 Perspectives on Facing a Rare Disease: A Patient, a Caregiver, and an Expert Discuss Diagnosis and Treatment of Pulmonary Fibrosis

    Hear about rare disease diagnosis, treatment, and quality of life from the perspective of Pulmonary Fibrosis patient Jim Carns, his wife and caregiver Karen Carns, and Dr David Lederer, an expert from the Pulmonary Fibrosis Foundation who is an Associate Professor at Columbia University. Jim tells us his diagnosis and treatment story, Karen explains life as a caregiver or “care partner,” while Dr Lederer explains the causes, treatment options, and upcoming Pulmonary Fibrosis research. Visit RareShare.o

    • 46 min
    All About Genomic Sequencing for Rare Disease Patients: A Focus on iHope

    All About Genomic Sequencing for Rare Disease Patients: A Focus on iHope

    Genomic sequencing is something many rare disease patients need, but can't access. The Rare Genomics institute runs iHope, a program to help children and their families afford genomic sequencing with the hope of finding a diagnosis, and a treatment. In this episode we chat with Romina Ortiz, a scientist and a co-founder of Rare Genomics to hear about potential costs of sequencing, exome sequencing vs whole genome sequencing, and how iHope has provided $2.7 million worth of genome sequencing to patients.

    • 29 min
    Growing up With a Rare Disease: An Alagille Syndrome Warrior on Understanding Her Rare Disease and Participating in Research

    Growing up With a Rare Disease: An Alagille Syndrome Warrior on Understanding Her Rare Disease and Participating in Research

    Being born with, and growing up with a rare disease means you don’t necessarily know any other way of life. 23-year-old Anna Laurent, who was born with Alagille Syndrome, tells us that as she grew up, she gradually learned about what that meant, and how her life was different from other kids’ lives. She tells us about her symptoms and treatment experiences, participating in research, and her involvement with rare disease advocacy. Anna also recently graduated from college so she tells us about her new j

    • 33 min
    Coping With Your Child's Diagnosis: The Mother of a Rare Disease Patient on How She Found a Supportive Community

    Coping With Your Child's Diagnosis: The Mother of a Rare Disease Patient on How She Found a Supportive Community

    Anne Bruns’ son Ethan was diagnosed with Atypical Hemolytic Uremic syndrome (Atypical HUS), when he was just 8 years old. Anne tells us how she, Ethan and the rest of their family first reacted to the diagnosis, shares her advice for other families coping with a rare disease diagnosis, and lets us know how Ethan is doing today. www.rareshare.org

    • 33 min

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