#47 Living with NAION: Rachel Schreiman’s Journey Through Vision Loss and Advocacy
Rachel shares her story of resilience after experiencing two episodes of Non-Arteritic Anterior Ischemic Optic Neuropathy (NAION), a rare and debilitating eye condition caused by insufficient blood flow to the optic nerve.
#46 Decoding Colon Cancer: Expert Insights on Screening and Genetics from Gabrielle Shermanski
Cancer genetic counselor Gabrielle Shermanski shares her expertise in colon cancer including screening, risk levels, genetic testing and more.
#45 Adapting to Blindness Before 30 with Zach Ship
On a vacation in Madrid Zach loses his vision and shares the scary experience and how he has adapted his life in the two years since.
#44 How a Kidney Transplant Saved Zach Ship’s Life at 19
At 19 years old Zach Ship’s life was threatened by kidney disease, his mother saved him by donating her kidney to him.
#43 Shari Ship on Donating Her Kidney to Son
Her son, Zachary, was diagnosed with Membranous Nephropathy as a teen and quickly required a kidney transplant.
#42 Huntington’s Disease with Tanita Allen
Author and advocate Tanita Allen shares about the delay in her accurate diagnosis of Huntington’s Disease and living with the condition.
#41 Dwarfism with Colleen Gioffreda
Charismatic Colleen Gioffreda shares her experience living with dwarfism including her roles at Johns Hopkins, Little People of America, and as a mother.
#40 Overcoming Crohn’s Through Pilates with Ryan Hodgkinson
A highly respected Pilates instructor shares his journey into fitness that was profoundly shaped by his personal experience with Crohn’s disease.
#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.
#36 Cochlear Implant Surgery and Recovery with Marc Bassin
After he recovers from his cochlear implant surgery, Marc rejoins the show to share how the experience has been.
#35 Sudden Hearing Loss with Marc Bassin
Marc experienced a sudden and unexpected loss of hearing in one ear, dramatically altering his daily life and what led to the choice to schedule his cochlear implant surgery.
#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.