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

Genetic Counseling in Rare Diseases

February 24, 2024 23:59 - 49 minutes - 68.3 MB

Two genetic counselors, Sasha Bauer and Chloe Cheung, discuss how genetic counseling can help rare disease patients understand and cope with their condition. While genetic information does not always lead to clear therapeutic options, the knowledge gained is empowering.

Jimmy Lin RareShare Podcast

August 08, 2023 02:11 - 36 minutes - 50.3 MB

Rare Genomics Institute founder and president, Dr. Jimmy LIn, discusses health equity and rare diseases in this episode of the RareShare podcast series.

Clinic for Special Children

February 07, 2022 17:00 - 1 hour - 83.4 MB

Serving the Amish and Mennonite communities in Central Pennsylvania, the Clinic for Special Children provides counseling and healthcare for rare disorders affecting the local population. In doing so, it has become a recognized leader in the treatment and scientific understanding of conditions such as Maple Syrup Urine Disease. Listen to an in-depth, fascinating story of the clinic, its goals, accomplishments and challenges as told by current staff members. You'll almost certainly agree that ...

Ethan and Me with Geraldine Renton

May 26, 2021 02:22 - 45 minutes - 42 MB

Listen to RareShare's latest podcast with Geraldine Renton, book author and Irish mother of a Hunter Syndrome child. In this episode, Geraldine tells of her family's journey navigating the challenges of a rare disease that led to the writing of her book Ethan and Me. Hear about their courageous battle with adversity, as they learned of the genetic enzyme deficiency behind the disease and faced its unrelenting consequences, leading to Ethan's passing in late 2020. From learning about Ethan's ...

Meet the Rareshare Team

December 07, 2020 02:07 - 29 minutes - 29.7 MB

This episode features RareShare itself, and discuss various topics ranging from its goals and how to utilize its networking and informational content. We hope to provide you with a brief, but comprehensive view of the website·s features, the diverse and

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

January 22, 2020 00:35 - 34 minutes - 16.1 MB

No one expects to get a rare disease diagnosis in their mid 20s at the start of a budding career, then get fired for spending too much time away getting treatment, but that’s exactly what happened to Candace Lerman in 2014. Now, almost 6 years later, inspired by her own quest for effective treatment, Candace has retrained as a lawyer and is fighting for new treatment approvals on Capitol Hill. Candace joins us to chat about her experience as a rare disease patient, how she went from losing h...

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

August 27, 2019 15:02 - 17 minutes - 7.98 MB

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.

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

June 08, 2019 15:02 - 46 minutes - 21.5 MB

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 also an Associate Professor at Columbia University. Jim tells us his diagnosis and treatment story, Karen explains what life is like as a caregiver or “care partner,” while Dr Lederer explains the causes of the disease, the treatment options, and upcomin...

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

April 19, 2019 12:07 - 29 minutes - 13.4 MB

Genomic sequencing is something many rare disease patients may need, but may not be able to access. The Rare Genomics institute runs a program called iHope 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 the the potential costs of sequencing, the difference between exome sequencing and whole genome sequencing, and how, thr...

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

December 17, 2018 13:44 - 33 minutes - 15.3 MB

Being born with, and growing up with a rare disease means you don’t necessarily know any other way of life. This month we spoke with 23-year-old Anna Laurent, who was born with Alagille Syndrome, and 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 ...

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

August 14, 2018 02:30 - 33 minutes - 15.4 MB

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