Genetic Counselor Amy Patterson shares about genetic screening and testing available for rare disease including her speciality of skeletal dysplasias. Amy Patterson (she/her) is a licensed pediatric and adult genetic counselor in the Johns H

#38 Dr. Tara Zier on Stiff Person Syndrome

21 days ago 45m 47s

In this enlightening episode of It Happened To Me, we are joined by Dr. Tara Zier, founder of the Stiff Person Syndrome Research Foundation. Dr. Zier shares her personal journey with Stiff Person Syndrome (SPS), a rare and debilitating autoimmu

#37 Congenital Hyperinsulinism with Advocate Julie Raskin

Jun 3rd, 2024 51m 23s

In this enlightening episode, we are joined by Julie Raskin, Chief Executive Officer of Congenital Hyperinsulinism International (CHI). Julie's journey began when her son Ben was born with congenital hyperinsulinism (HI), a condition that cause

#36 Cochlear Implant Surgery and Recovery with Marc Bassin

May 20th, 2024 33m 10s

In the last episode of "It Happened To Me," (Episode 35) Marc Bassin shared his experience of sudden hearing loss in his left ear. After four years and countless healthcare providers, he went through with having a cochlear implant surgery.Th

#35 Sudden Hearing Loss with Marc Bassin

May 6th, 2024 36m 3s

Despite leading an active lifestyle, Marc experienced a sudden and unexpected loss of hearing in his left ear, dramatically altering his daily life. Join us as Marc shares his courageous journey from the onset of hearing loss to his upcoming co

#35 Sudden Hearing Loss with Marc Bassin

May 6th, 2024 36m 3s

#34 Bloom Syndrome with The Yasbins

Apr 15th, 2024 31m 35s

In this episode we have a special discussion lined up on Bloom Syndrome, featuring our guests Melanie and Lorne Yasbin, who will share their family's experience with this rare genetic disorder.Melanie received her J.D. from Villanova School

#33 Tay-Sachs and Grief with Myra Sack

Apr 1st, 2024 33m 11s

In our last episode (#32), we had the privilege of speaking with Matthew Goldstein, CEO of JScreen, about genetic screening. In this conversation, we are honored to welcome his wife, Myra Sack, a writer, coach, and activist, to share her family

#32 Tay-Sachs and Carrier Screening with Dr. Matthew Goldstein

Mar 18th, 2024 1h 5m

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. Matt Goldstei

#31 Blood Transfusion Therapy with Lori Harada & Carly Newton

Mar 4th, 2024 39m 17s

In this episode we are learning about blood transfusion therapy with a focus on the patient experience. Our Executive Producer, Kira Dineen, joins as a co-host since she has a scientific background. Lori Harada is a registered nurse who a

#30 Rare Disease Advocacy with Wes Michael

Feb 19th, 2024 36m 17s

In honor of Rare Disease Month, we're thrilled to welcome a special guest to our podcast episode: Wes Michael, President, and Founder of Rare Patient Voice. With over two decades of experience in rare and orphan diseases, Wes has dedicated his

#29 Exploring the Potential of Artificial Corneas with Dr. Esen Akpek

Feb 5th, 2024 23m 42s

In this riveting episode of 'It Happened to Me', join co-hosts Cathy Gildenhorn and Beth Glassman as they sit with Dr. Esen Akpek, a leader in corneal and stem cell transplantation. Listen as Dr. Akpek sheds light on emerging research around a

#28 Dry Eye with Dr. Esen Akpek

Jan 15th, 2024 35m 31s

We are joined by Dr. Esen Akpek to discuss dry eye, what it is and what we can do to relieve it. Dr. Esen Akpek (she/her) is the Bendann Family Professor of Ophthalmology at The Wilmer Eye Institute, The Johns Hopkins University Medical Sch

#27 Prevention of Blindness Society

Jan 1st, 2024 37m 38s

Two experts from the Prevention of Blindness Society: Sean Curry and Caren Forsten, join as our guests for our first episode of 2024! Sean Curry, MPH, serves as program director for the Prevention of Blindness Society (POB) of Metropolitan W

#26 Wolfram Syndrome Expertise from Dr. Fumihiko Urano

Dec 18th, 2023 33m 4s

We are thrilled to have Dr. Fumihiko Urano on “It Happened To Me” as he is our co-host Cathy’s lead doctor, for her variant of the rare disease, Wolfram Syndrome. Fumihiko “Fumi” Urano, MD, Ph.D., is a Physician and Medical Researcher specia

#25 Pancreatic Cancer with Patient Advocate Leslie Waldman

Dec 4th, 2023 44m

Pancreatic cancer occurs when a cell in the pancreas is damaged, causing the malignant or cancer cell to form in the tissue of the pancreas. The pancreas is a gland about 6 inches long and is shaped like thin pear lying on its side. The pancr

#24 Neuro-Ophthalmic Disorders with Dr. Andrew Carey

Nov 20th, 2023 55m 4s

We are honored to have Dr. Andrew Carey as a guest on this episode of on It Happened To Me. As a disclosure, Dr. Carey is our co-host Cathy Gildenhorn’s Doctor who diagnosed her rare disease, Wolfram Syndrome. Andrew R. Carey, MD (he/him) is

#23 Autoimmune Conditions with Dr. Colby Kash

Nov 6th, 2023 54m 48s

Dr. Colby Kash is featured on this episode of “It Happened To Me”. Dr. Kash is the author of The Autoimmune Plague: How to Regain Sovereignty Over Your Body and Life. He is an author who has pivoted out of clinical practice and is dedicated t

#22 Papillary Thyroid Cancer with Carly Flumer

Oct 16th, 2023 20m 40s

Carly Flumer was diagnosed with stage I papillary thyroid cancer at the age of 27 and again at 31. While being diagnosed with cancer at such a young age was a surprise, as it would be to anyone, she found strength, support, and inspiration in s

#21 Wolfram Syndrome with Parent Pat Gibilisco

Oct 2nd, 2023 28m 18s

We are releasing this episode in honor of Wolfram Syndrome Global Awareness Day which is celebrated on October 1st. The Wolfram Syndrome community worldwide is working to increase awareness and ultimately find a cure for Wolfram Syndrome. To le

#20 Familial Dysautonomia Foundation

Sep 18th, 2023 48m 49s

In this episode of It Happened To Me we are learning about the genetic conditions Familial Dysautonomia with three lovely guests: Lanie Etkind, Rita Taryan, and Keshi Taryan-Kigel. Lanie Etkind was appointed Executive Director of the Familia

#19 Pierre Robin Syndrome with Corinne Merlino

Sep 4th, 2023 36m 43s

Corinne Merlino was born with Pierre Robin Syndrome, a rare congenital birth defect that affects craniofacial development. Navigating life as a patient from a young age sparked her passion for science, medicine, and advocacy, and ultimately ins

#18 Hattersley-Urano Wolfram Syndrome with Parent Tamara Blum

Aug 21st, 2023 33m 43s

In this episode we continue our conversation with Tamra Blum. Tamara was on the last episode (Episode #17) of It Happened To Me where we discussed mental health. Tamara shared her expertise as a licensed clinical social worker to help listeners

#17 Mental Health Help with Social Worker Tamara Blum

Aug 7th, 2023 42m 30s

In this episode our guest is Tamara Blum. Tamara is a Licensed Clinical Social Worker (LCSW) in St. Louis, Missouri with a MSW from the Brown School at Washington University. She has worked with grieving families, on college campuses, and as a

#16 ALS with Brooke Eby

Jul 17th, 2023 39m 3s

At the age of 29, Brooke received a devastating diagnosis. After four years of confusing symptoms in her leg, Brooke Eby was diagnosed with ALS in March 2022. She hopes to spread awareness of amyotrophic lateral sclerosis (ALS) to as many peopl