#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.
#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).
#64 Challenging the Label: Living and Thriving with Trisomy 18 Part 2
Sarita Edwards on parenting through Trisomy 18 and building a global support network.
#63 Redefining “Incompatible with Life”: A Mother’s Mission for Trisomy 18 Awareness Part 1
Sarita Edwards on parenting through Trisomy 18 and building a global support network.
#62 Vision Through Music: Empowering Blind and Visually Impaired Kids with Adaptive Music Education
Music can change everything: for children with vision loss, it opens a world of opportunity. Founder of Vision Through Music shares about the program with a current student.
#61 How Jack’s Basket Is Changing the Down Syndrome Diagnosis Story
Carissa Carroll shares how her non-profit empowers 11,000+ families, educates professionals, and celebrates babies with Down syndrome.
#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).
#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.
#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.