#71 When the Diagnosis Comes Late: Navigating Adult Wolfram Syndrome

In this insightful episode of It Happened To Me, hosts Beth Glassman and Cathy Gildenhorn (in a rare guest role!) sit down with Dr. Rachel Hyman, a clinical psychologist from Seattle whose experience with Wolfram syndrome was recently featured in The Washington Post here.

Wolfram syndrome is a rare genetic disorder that affects vision, blood sugar regulation, and neurological function. Often diagnosed in childhood, it can present very differently from one person to another, and in this episode, we hear from two women living with a milder, adult-onset form of the condition, most common among those of Ashkenazi Jewish descent.

Rachel and Cathy open up about the long diagnostic odyssey, early symptoms that were misunderstood, and how it feels to finally have a genetic explanation after years of uncertainty. They share how they’ve each learned to adapt, from managing diabetes and vision loss to embracing new technologies that restore independence.

Their stories highlight the power of self-advocacy, medical persistence, and community, reminding listeners that awareness is often the first step toward better care and future research.

In This Episode, You’ll Learn:

• What Wolfram syndrome is and how symptoms are on a spectrum 
• Rachel’s diagnostic journey from gestational diabetes to genetic confirmation
• Cathy’s daily strategies for living with vision loss, pre-diabetes, and sensory changes
• The role of technology and accessibility tools in maintaining independence
• How emotional resilience and community support help patients face uncertain prognoses
• The critical importance of genetic testing and awareness for rare neurodegenerative diseases
• Hope for the future of Wolfram research and patient advocacy

About the Guests

Dr. Rachel Hyman Rachel Hyman is a clinical psychologist based in the Seattle area. She specializes in working with older teens and young adults navigating anxiety and depression and serves as adjunct faculty at Antioch University, where she supervises doctoral students in psychology. Rachel’s personal journey with Wolfram syndrome was featured in The Washington Post, shedding light on this underrecognized condition and the importance of accurate genetic diagnosis.

Cathy Gildenhorn Usually behind the mic as co-host of It Happened To Me, Cathy joins this episode as a guest to share her own journey with Wolfram syndrome. She has devoted much of her life to improving the lives of others and connecting women to Jewish life and each other. She has served on several local, national and international boards and currently serves on the board of the Florence Melton School of Adult Jewish Learning. Cathy also served as presidential appointee to the United States Holocaust Memorial Council. While a council member, she worked on the opening of the museum. 

Recommended Resources 

Jewish Wolfram Network

Johns Hopkins’ The Wilmer Eye Institute

Wolfram Syndrome and Related Disorders Clinic and Study at Washington University Medical Center

The Snow Foundation

 

Relevant Episodes 

#3 Wolfram Syndrome with Cathy Gildenhorn

#9 Wolfram Syndrome with Stephanie Gebel Snow

#18 Hattersley-Urano Wolfram Syndrome with Parent Tamara Blum

#21 Wolfram Syndrome with Parent Pat Gibilisco

#26 Wolfram Syndrome Expertise from Dr. Fumihiko Urano

 

Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”. 

 

“It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today’s Kira Dineen is our executive producer and