It Happened To Me: A Rare Disease and Medical Challenges Podcast

Happy holidays listeners! With the year coming to an end, Cathy Gildenhorn, Beth Glassman, and our Executive Producer Kira Dineen have been reflecting back on a full three years of “It Happened To Me”. We’ve produced nearly 75 episodes and learned so much along the way. A good chunk of them have been exploring rare diseases and hearing people’s journeys from early symptoms, to diagnosis, to treatment, and beyond. With this in mind, we want to revisit an episode that takes a more macro view on rare diseases.  If you're a long time listener of the show, you may know Kira Dineen is not only produces the show, but is also a practicing genetic counselor, so we thought it would be interesting to bring her in front of the mic in this episode to talk about how genetic counselors can help those in the rare disease community.    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. Co-producer Kira Dineen, MS, LCGC, CG(ASCP)CM has over a decade of podcast experience fueled by a passion for science communication. She has hosted and produced 7 podcasts. Her multi-award winning podcast, "DNA Today", is in the top 1% of podcasts globally. She was accepted into The Podcast Academy and has served as a Blue Ribbon Panelist for The Ambies. Kira received her Diagnostic Genetic Bachelor’s of Science degree at the University of Connecticut and is a certified Cytogenetic Technologist. She received her Master’s of Science in Human Genetics at Sarah Lawrence College in New York and is a licensed certified genetic counselor currently practicing in Connecticut.  On This Episode We Answer: When should a person or couple consider genetic counseling? Is a referral required to see a genetic counselor? Does insurance cover genetic counseling for this? Is genetic testing done before the visit?  How many visits are we talking about? Do you ever suggest adoption as an option? When? How do you help people with genetic conditions? Why get tested at all? What have you learned from interviews with patients and rare disease advocates? Do you recommend joining rare disease advocacy groups? Why study rare diseases? What is CRISPR? How could this help treat…or even cure…genetic conditions?  You produce a rare disease podcast that focuses on nano rare diseases. What’s a nano-rare disease? 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. Steve Holsonback is our media engineer and co-producer. DNA Today’s Kira Dineen is our marketing lead and co-producer. Ashlyn Enokian is our graphic designer.  See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to [email protected]. 

In this uplifting episode, hosts Beth Glassman and Cathy Gildenhorn sit down with Leanna Scaglione, a powerhouse rare disease advocate and marathon runner living with NF2-Related Schwannomatosis (NF2-SWN), formerly known as neurofibromatosis type 2. Diagnosed at just 16 years old, Leanna’s life changed dramatically when tumors were discovered in her nervous system, a hallmark of NF2-SWN. Many would have slowed down. Instead, Leanna sped up. Today, she has: Completed multiple marathons, including Berlin and New York City Participated in clinical trials Become an advocate and 2025 Ambassador for the Children’s Tumor Foundation Set her sights on becoming the first person with NF2 to complete all 7 Abbott World Marathon Majors Her message is powerful: a diagnosis doesn’t define the finish line. In This Episode, We Discuss: What NF2-SWN is and how it impacts the nervous system The emotional toll of receiving a life-altering diagnosis as a teenager Losing a dream — and finding a new one Running marathons through surgeries, treatments, and uncertainty How advocacy and visibility can change the rare disease landscape Building a life rooted in resilience, purpose, and possibility About Our Guest: Leanna Scaglione is 34 years old living with NF2-Related Schwannomatosis (NF2-SWN). Ever since being diagnosed at 16 years old, she has refused to live defined by her diagnosis. From relearning to walk, participating in immunotherapy drug trials, and going through numerous surgeries she has defied the odds against her. Most recently she has undergone surgery to remove her right acoustic neuroma. She continues to live her best life as an endurance runner, sharing her story and experiences living with NF2 in hopes to spread awareness, motivate her community and rally for a cure. Resources:  Children’s Tumor Foundation NF2 Accelerator: A Strategic Portfolio Approach to End NF2 Articles Explaining NF2 MedlinePlus GeneReviews National Organization for Rare Disorders (NORD) Research from China that Leanna reference for a gene therapy for NF2 Yuan R, Wang B, Wang Y, Liu P. Gene Therapy for Neurofibromatosis Type 2-Related Schwannomatosis: Recent Progress, Challenges, and Future Directions. Oncol Ther. 2024 Jun;12(2):257-276. doi: 10.1007/s40487-024-00279-2. Epub 2024 May 17. PMID: 38760612; PMCID: PMC11187037. Additional Research Articles Alexandra K. O’Donohue, Samantha L. Ginn, Gaetan Burgio, Yemima Berman, Gabriel Dabscheck, Aaron Schindeler, The evolving landscape of NF gene therapy: Hurdles and opportunities, Molecular Therapy Nucleic Acids, Volume 36, Issue 1, 2025, 102475 ,ISSN 2162-2531, https://doi.org/10.1016/j.omtn.2025.102475. Connect With Us:   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 marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to [email protected]. 

We’re re-releasing one of our most popular episodes, an important conversation with Wolfram syndrome expert Dr. Fumi Urano.   We’re bringing this episode back in honor of Diabetic Eye Disease Month, and because it’s the perfect follow-up to our last episode featuring Dr. Rachel Hyman and our very own co-host Cathy Gildenhorn as guests. Their experiences with the milder, adult-onset variant of Wolfram syndrome sparked so much interest, we knew this episode needed another moment in the spotlight. You’ll hear Cathy interview Dr. Urano, her lead physician, about symptoms, diagnosis, and promising research underway to help people with rare neurodegenerative disorders like Wolfram syndrome.   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 specializing in Wolfram syndrome, characterized by juvenile-onset diabetes, vision loss, and neurodegeneration. Dr. Urano is a Professor of Medicine and Pathology & Immunology, an attending physician at Endocrinology Genetics Clinic, and currently holds Samuel E. Schechter Endowed Professorship in Medicine at Washington University Medical Center, St. Louis, USA. Dr. Urano is a driving force in the study of Wolfram syndrome and Related Disorders, including WFS1-related disorders/Wolfram-like disorders. As the Director of the Wolfram Syndrome and Related Disorders Clinic and Study at Washington University Medical Center, Dr. Urano has been leading the clinical, translational, and interventional studies of Wolfram syndrome and Related disorders. Dr. Urano's collaboration with colleagues at the medical center and around the world has allowed him to develop cutting-edge treatments for this disease, including gene therapy and regenerative therapy.    Learn more on their Wolfram syndrome website, wolframsyndrome.wustl.edu. If you want to reach out directly you can contact the Research Nurse Coordinator Stacy Hurst, RN, CDE by calling 314-747-3294 or emailing [email protected].    During the episode Dr. Urano mentioned two episodes of “It Happened To Me”: during this episode. The first was our interview with Dr. Gladstone in Episode 5. He also gave a shoutout to our conversation with Stephanie Snow Gebel (Snow Foundation) in Episode 9.    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 marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to [email protected].

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 HymanRachel 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 GildenhornUsually 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 marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to [email protected].

In this heartfelt episode of It Happened To Me, hosts Cathy Gildenhorn and Beth Glassman sit down with Nikki McIntosh, a rare disease advocate, writer, and mother whose life changed when her son Miles was diagnosed with Spinal Muscular Atrophy (SMA). Nikki McIntosh is the founder of Rare Mamas®, a resource, and community dedicated to supporting and empowering mothers of children with rare diseases. She is the author of Rare Mamas: Empowering Strategies for Navigating Your Child’s Rare Disease and host of the Rare Mamas Rising podcast. Her mission stems from the profound need she felt after her son was diagnosed with a rare disease, fueling her with a passion and purpose to offer a lifeline of hope and connection to other rare moms. Nikki is a sought-after speaker and a trusted voice in the rare disease space. From national conferences and patient advocacy group gatherings to biotech industry meetings and media interviews, Nikki passionately advocates for the rare disease community. She lives in Southern California with her husband, Tony, and their sons, Mason and Miles. In 2013, at just eighteen months old, Nikki’s youngest son, Miles, was diagnosed with spinal muscular atrophy (SMA)—a rare, degenerative neuromuscular disease. Told there was no treatment, no cure, and that regression was inevitable, Nikki refused to accept a future that offered only decline. She walked away from her career and poured herself into caregiving, advocacy, and an unrelenting search for answers. That search led her and her husband to a clinical trial for a drug that showed promise. Miles was enrolled. The treatment was effective. That drug—now known as Spinraza—went on to become the first-ever FDA-approved treatment for SMA. From that breakthrough moment, Nikki immersed herself in the world of rare disease advocacy. She began writing down everything she wished she had known at the beginning of their journey. With a deep desire to empower other rare moms, she wrote the book Rare Mamas: Empowering Strategies for Navigating Your Child’s Rare Disease. Nikki continues to walk this road alongside her son, and alongside the millions of mothers who are parenting children with rare diseases. She has a deep passion for providing strategies, strength, support, and sisterhood to her fellow rare moms. In This Episode, You’ll Learn: What Spinal Muscular Atrophy (SMA) is and how it affects children and families Nikki’s emotional journey from diagnosis to advocacyHow her son’s participation in a clinical trial offered hope and insight The inspiration behind Rare Mamas and its empowering message Strategies for parents navigating rare disease diagnoses and complex healthcare systems The importance of building community and finding your voice as a caregiver How to balance hope for new treatments with the daily realities of care Resources:  Nikki’s website that houses all her projects, RareMamas.com  Buy Nikki’s book: Rare Mamas: Empowering Strategies for Navigating Your Child’s Rare Listen to Nikki’s podcast: Rare Mamas Rising Learn more about SMA via MedlinePlus Patient Empowerment Program, another podcast in our science podcast network Gene Pool Media, is hosted by one of the pharmacists that helped develop Spinraza, the first FDA approved treatment for SMA. Miles was part of the clinical trial.  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 marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to [email protected].