#53 From Journalist to Advocate: Laura Bonnell’s Mission to Support Cystic Fibrosis Families
Parent Laura Bonnell shares about her two daughters who were diagnosed with cystic fibrosis which lead to her advocacy.
#52 Adaptive Toys for Kids with Disabilities: Inspiration from Daughter with Rett Syndrome
Podcaster, Father and Advocate shares about his daughter and how he created adaptive toys and products for others in the disability community.
#51 Niemann-Pick Type C: Understanding Symptoms, Genetics, and New Treatments
Patient advocate and parent Barbara Lazarus shares about her son’s condition and their doctor, Dr. Caroline Hastings, provides her expertise.
#50 Neuromuscular Neurology Explained: Symptoms, Treatments, and Advances with Dr. Bucelli
A deep dive into neuromuscular disorders with one of the field's leading experts, Dr. Robert Bucelli.
#49 Living with NMOSD: Alex Brito's Journey of Resilience and Advocacy
Discover how Alex Brito turns life with NMOSD into a story of strength, advocacy, and inspiration.
#39 Genetic Testing for Rare Diseases with Amy Patterson
Genetic Counselor Amy Patterson shares about genetic screening and testing available for rare disease including her speciality of skeletal dysplasia.
#38 Dr. Tara Zier on Stiff Person Syndrome
The Founder of the Stiff Person Syndrome Research Foundation shares her personal journey with the rare and debilitating autoimmune disorder.
#37 Congenital Hyperinsulinism with Advocate Julie Raskin
The co-founder of Congenital Hyperinsulinism International (CHI) shares her son’s diagnosis and teaches us about the condition.
#34 Bloom Syndrome with The Yasbins
Parent and Rare Disease Advocates share their son’s diagnosis odyssey with Bloom Syndrome.
#33 Tay-Sachs and Grief with Myra Sack
A mother opens up about the death of her daughter from Tay-Sachs disease and how it lead to writing her memoir, Fifty-Seven Fridays.
#32 Tay-Sachs and Carrier Screening with Dr. Matthew Goldstein
A physician-scientist father shares his heartbreaking story of the death of his daughter who was diagnosed with Tay-Sachs disease and how it motivated him to become the CEO of JScreen to prevent this experience in other families.
#31 Blood Transfusion Therapy with Lori Harada & Carly Newton
Experts from Terumo Blood and Cell Technologies share information about the patient experience of blood transfusions.
#30 Rare Disease Advocacy with Wes Michael
Celebrate Rare Disease month in this episode with the President and Founder of Rare Patient Voice.
#29 Exploring the Potential of Artificial Corneas with Dr. Esen Akpek
Dr. Apkek, internationally renowned leader in the fields of corneal transplantation and surface reconstruction, shares her expertise in these areas.
#28 Dry Eye with Dr. Esen Akpek
Internationally renowned leader in the fields of corneal transplantation and surface reconstruction, Dr. Apkek, shares her insight on dry eye.
#27 Prevention of Blindness Society
Caren Forsten and Sean Curry share low vision and blindness resources.
#26 Wolfram Syndrome Expertise from Dr. Fumihiko Urano
Dr. Fumihiko Urano shares his world renowned expertise from leading the clinical, translational, and interventional studies of Wolfram syndrome and related disorders.
#21 Wolfram Syndrome with Parent Pat Gibilisco
Pat Gibilisco is Patient Advocacy Liaison for the Snow Foundation for Wolfram Syndrome research. In 2021, her daughter Lauren died from Wolfram Syndrome in her mid-30s.
#20 Familial Dysautonomia Foundation
We learn about the genetic conditions Familial Dysautonomia with three lovely guests: Lanie Etkind, Rita Taryan, and Keshi Taryan-Kigel.
#19 Pierre Robin Syndrome with Corinne Merlino
Patient advocate and genetic counseling student Corinne Merlino shares about her rare congenital birth defect that affects craniofacial development.