#74 Genetic Counseling for Rare Diseases with Kira Dineen [Re-Release]
Genetic Counselor, and our podcast co-producer, Kira Dineen shares her insight on when to pursue genetic counseling and how genetic counselors can help people in the rare disease community.
#73 Running Toward a Cure: NF2 Advocate Becomes Marathon Runner to Raise Awareness and Funds
At 16 years old, Leanna Scaglione was diagnosed with NF2-Related Schwannomatosis, having to leave her dreams of becoming a ballerina behind, she altered her athletic journey becoming a multi-marathon runner.
#72 Wolfram Syndrome Expertise from Dr. Fumihiko Urano [Re-Release]
Dr. Fumihiko Urano shares his world renowned expertise from leading the clinical, translational, and interventional studies of Wolfram syndrome and related disorders.
#71 When the Diagnosis Comes Late: Navigating Adult Wolfram Syndrome
From misdiagnosis to empowerment, Rachel Hyman and Cathy Gildenhorn share their real stories of being diagnosed with a rare disease, Wolfram Syndrome, in adulthood.
#70 The First Spinraza Patients: A Rare Mama’s Advocacy for her Son with SMA
Nikki McIntosh, a rare disease advocate, shares how her family has navigated her son’s diagnosis of Spinal Muscular Atrophy (SMA).
#68 The Hidden Danger in Newborns: OTC Deficiency Explained by a Geneticist and a Mother
Pruitt was born with ornithine transcarbamylase (OTC) deficiency, hear from his mother Jordan Kruse and geneticist Dr. Susan Berry about the condition and how healthcare can do better.
#65 Invisible Swells: Surviving with Hereditary Angioedema Type III
Sally Pirie opens up about the condition that has plagued her family for decades: Hereditary Angioedema Type III (HAE-3).
#60 CRISPR, Community, and Courage: A Deep Dive into Sickle Cell Advocacy
Fellow podcasters Wunmi Bakare and Dima Hendricks open up about their experiences living with sickle cell disease and how they have become advocates.
#59 From Diagnosis to Memoir: Laura Kieger’s Mission to Share Her Family’s FAP Story
Author Laura Kieger educates on the hereditary cancer syndrome, Familial Adenomatous Polyposis (FAP).
#58 Living Deafblind: Carrie Francis’ Resilience After 5th Degree Facial Cleft
Despite being told she wouldn’t survive beyond her first week of life, Carrie has overcome extraordinary medical challenges, including severe blindness and hearing impairment from her rare 5th-degree facial cleft.
#57 APOL1-Mediated FSGS: What Families Need to Know, from Diagnosis to Advocacy
Jaime Albright Henighan shares her family’s journey after two of her sons were diagnosed with a rare genetic kidney disease called APOL1-mediated FSGS (Focal Segmental Glomerulosclerosis).
#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.
#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.