loader from loading.io

LGLL Podcast Series III (3/25/2016)

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

Release Date: 03/29/2016

Ethan and Me with Geraldine Renton show art Ethan and Me with Geraldine Renton

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

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.

info_outline
Meet the Rareshare Team show art Meet the Rareshare Team

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

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

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

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

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

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

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

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.

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

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

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

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

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

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.

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

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

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

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

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

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

info_outline
Receiving a Rare Disease Diagnosis: A Huntington’s Disease Patient Shares His Experience and Advice for Coping with a New Diagnosis (Patient Navigation) show art Receiving a Rare Disease Diagnosis: A Huntington’s Disease Patient Shares His Experience and Advice for Coping with a New Diagnosis (Patient Navigation)

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

info_outline
The Power of Community: How Patient Communities Provide Hope and Help Further Rare Disease Research (Patient Navigation) show art The Power of Community: How Patient Communities Provide Hope and Help Further Rare Disease Research (Patient Navigation)

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

info_outline
 
More Episodes
Rare Genomics Institute RareShare Ask the Expert:Podcast Series, Disease Specific Q&A Sessions, For feedbacks contact, Scientific Director, Rare Genomics Institute: Deepa Kushwaha, [email protected] (Music credit: www.bensound.com)