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

#79 How Acupuncture Can Support Fertility

Discover how acupuncture, traditionally rooted in Chinese medicine, is transforming fertility care today. Join us as Kirsten Karshmer, a pioneer with over 20 years of experience, shares insights into how integrative practices and AI technology are making fertility treatment more accessible, personalized, and effective.
 
In This Episode:
The science and philosophy behind reproductive acupuncture
How acupuncture can enhance ovulation and IVF outcomes
The emotional toll of infertility and managing stress
Innovations in fertility tech: AI-driven platforms for personalized care
Common misconceptions about fertility treatments
Practical tips for young girls to foster a healthy relationship with their bodies
The importance of shifting narratives: treating overall health, not just infertility
 
Resources: 
Conceivable Technologies 
ABORM - a reproductive acupuncture resource 
“If Men Could Menstruate" By Gloria Steinem
 
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 ItHappenedToMePod@gmail.com.

#78 Sudden Vision Loss and Giant Cell Arteritis: When “Healthy” Changes Overnight

In this episode of It Happened To Me, we share a story that underscores how quickly life can change, even when everything seems perfectly healthy.
 
Our guest, Kathi Lopez, was a retired business owner who felt active, well, and thriving when she suddenly lost vision in one eye. What began as a frightening visual disturbance quickly escalated into a medical emergency and led to a diagnosis of Giant Cell Arteritis (GCA), a serious inflammatory condition that can cause permanent vision loss if not treated immediately. Kathi was also diagnosed with Polymyalgia Rheumatica (PMR), a related autoimmune disease that causes widespread pain, stiffness, and fatigue.
 
Kathi has permanently lost vision in her right eye, but she has not lost her voice. In this powerful conversation, she shares what it’s like to go from “healthy” to navigating chronic autoimmune illness, how quickly symptoms can be missed or dismissed, and why awareness of GCA can be life- and vision-saving.
 
This episode is an important reminder that listening to your body, and acting quickly, can make all the difference.
 
In This Episode, We Discuss:
The moment Kathi first noticed something was wrong with her vision
Early warning signs of Giant Cell Arteritis, including headaches, jaw pain, fatigue, and body aches
How rapidly GCA can progress from subtle symptoms to permanent vision loss
Receiving a life-altering diagnosis and processing irreversible vision loss
The emotional, psychological, and physical impact of losing sight in one eye
Adapting to monocular vision and changes in daily independence
Living with both Giant Cell Arteritis and Polymyalgia Rheumatica
Treatment approaches and how Kathi’s body responded
Where the healthcare system succeeds, and where it can fail patients with rare autoimmune diseases
Advice for newly diagnosed patients and what Kathi wishes providers understood
A message for anyone who believes, “This could never happen to me”
Resources Shared by Kathi
Kathi wanted to share the following practical, evidence-informed strategies for adapting to vision loss in one eye. These resources do not replace medical care but may help support rehabilitation and daily functioning.
 
Structured Low-Vision Rehabilitation
Work with a Certified Vision Rehabilitation Therapist (CVRT) or low-vision occupational therapist
Learn techniques for reading, mobility, depth perception, and hand-eye coordination
Eccentric viewing training may help maximize use of stronger retinal areas
Monocular Vision Therapy Exercises (Performed with the affected eye covered)
Monocular push-ups for focus and accommodation
Near-far focusing to improve visual flexibility
Brock string or Hart chart exercises for eye movement and coordination
Figure-8 eye tracing and directional eye glides
Adaptive Skills Training
Tossing and catching a ball to improve spatial judgment
Motion-parallax head movements to aid depth perception
Practicing scanning toward the blind side when walking or navigating spaces
Assistive Tools
Enhanced lighting, contrast markings, magnifiers, and large print
Electronic aids such as CCTVs or adaptive visual technology
Expectations & Consistency
Adaptation often takes 6–9 months
Daily practice (10–20 minutes per exercise) is most effective
Patience and self-compassion are essential
Important: Always consult your ophthalmologist or low-vision specialist before starting any new therapy, especially after GCA. 
 
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 ItHappenedToMePod@gmail.com.

#77 When Chronic Illness Changes the Tune: A Musician’s Journey Through Diabetes and Stroke

In this episode of It Happened To Me, we share a powerful story of resilience, creativity, and determination in the face of serious health challenges.
We’re honored to welcome Carolyn Routh, an award-winning musician, entrepreneur, and front-woman of the acclaimed bluegrass band Nu-Blu. With more than two decades on the road, multiple Billboard Top Ten albums, and appearances on platforms like CBS Sunday Morning, Carolyn has built an extraordinary career in music. What many don’t see is the parallel journey she’s been navigating behind the scenes—living with Type I diabetes and recovering from multiple strokes.
Carolyn’s health challenges reshaped not only her life, but her art. During her stroke recovery, she taught herself to play bass, reinventing her role in the band and reclaiming her place on stage with a renewed sense of purpose. In this conversation, we explore what it means to pursue a demanding creative career while managing chronic illness, how music can become part of healing, and what resilience really looks like when the unexpected changes everything.
 
In This Episode, We Discuss:
Carolyn’s early diagnosis with Type I diabetes and how it shaped her life before fame
Surviving multiple strokes and the recovery process 
Learning to play bass as part of rehabilitation and healing
Returning to the stage after major health trauma
Balancing touring, recording, and performance with ongoing health needs
Making career accommodations without giving up on dreams
How lived experience influences Nu-Blu’s music 
Navigating marriage, creativity, and entrepreneurship through serious illness
The power of community, music, and perseverance
Advice for anyone worried a diagnosis will limit their future 
 
Resources: 
Carolyn's Band Nu-Blu
BlueGrass Ridge Syndicated TV Show hosted by Carolyn and Daniel Routh 
FDA Drug Safety Communication: Updated information about the risk of blood clots in women taking birth control pills containing drospirenone (including Yasmin and Yaz)
 
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 ItHappenedToMePod@gmail.com. 

#76 When Pain Never Stops: A Survivor’s Story of Chronic Pain and Hope

In this deeply moving episode we explore the reality of chronic pain, the kind that reshapes identity, erodes independence, and too often leaves patients feeling invisible within the healthcare system.
Joining us is Meredith Mangold, an inflammatory bowel disease and chronic pain patient advocate whose medical journey began in college and evolved into years of relentless, life-altering pain. Meredith lives with ulcerative colitis, chronic abdominal and pelvic pain, and a constellation of overlapping medical conditions that left her bedbound for years and searching desperately for answers.
As a college student, Meredith landed in the ICU with toxic megacolon, a rare and life-threatening complication of inflammatory bowel disease. What followed were multiple major surgeries, escalating pain, and an exhausting cycle of treatments, including opioids, ketamine, spinal cord stimulation, and repeated detox attempts, none of which provided lasting relief. At her lowest point, Meredith’s pain hovered at an 8 out of 10 daily, her world narrowed to her bed and doctors’ appointments, and hope felt out of reach.
In this conversation, Meredith courageously shares what it’s like to live with unrelenting pain, the emotional toll of medical trauma, and the devastating impact chronic illness can have on mental health, identity, and self-worth. She also opens up about medical dismissal, the difficulty of managing multiple diagnoses, and the isolation that so many chronic pain patients quietly endure.
After years of setbacks, Meredith found a turning point through a personalized, multidisciplinary approach to pain management, one that treated her as a whole person, not just a diagnosis. While her pain hasn’t disappeared, it has become more manageable, allowing her to reclaim pieces of her life she once believed were gone forever.
Today, Meredith is the founder of Empower Health Strategies, where she uses her lived experience to help healthcare organizations and digital health companies build more patient-centered solutions. Her story is a powerful reminder that progress doesn’t always mean being pain-free, sometimes it means being heard, believed, and given the chance to rebuild.
In this episode, we discuss:
What toxic megacolon is and why it’s so dangerous
The physical and emotional realities of being bedbound with chronic pain
Medical gaslighting, misdiagnosis, and navigating overlapping conditions
The toll of long-term opioid use and repeated detox attempts
How unmanaged pain contributes to depression, anxiety, and medical PTSD
What changed when Meredith finally found a care team with “more ideas”
How lived experience can become a powerful form of advocacy
A message of hope for anyone who feels they’ve reached the end of the road
This episode is for anyone living with chronic pain, loving someone who is, or working in healthcare and seeking to better understand the human cost of untreated and misunderstood pain.
Meredith, thank you for your honesty, vulnerability, and advocacy. Your story gives voice to so many who are still struggling, and reminds us all that healing can take many forms.
During the episode we mentioned Hopkins Medicine’s spotlight on Meredith and a previous episode of It Happened To Me, #40 Overcoming Crohn’s Through Pilates with Ryan Hodgkinson.
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 ItHappenedToMePod@gmail.com. 

#75 Genetic Testing for Rare Diseases with Amy Patterson

Happy New Year listeners! We hope you enjoyed the holidays and are off to a wonderful start of 2026! 
 
The last episode we released featured our Executive Producer Kira Dineen putting on her genetic counseling hat to explore how genetic counselors can help those in the rare disease community. With how much you all enjoyed that “blast from the past” episode, we thought we would bring you one more before our new episodes of 2026 kick off. 
So we are continuing on the topic of rare diseases genetics, and revisiting our episode with Amy Patterson, who is a genetic counselor as well. In this conversation she shares with Cathy and Beth about genetic screening and testing available for rare diseases including her speciality of skeletal dysplasia.
 
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 Hopkins Department of Genetic Medicine. She primarily works with patients in the Greenberg Center for Skeletal Dysplasias as well as the General Genetics clinic. Especially in the skeletal dysplasia space, Amy works to promote a holistic patient experience, including psychosocial counseling, connection with patient advocacy groups, informed consent, genetic testing and interpretation of results, coordination of care, and discussion of research options. Amy was a LEND Fellow and graduated from the Boston University Genetic Counseling program in 2021. She has focused much of her research and clinical work on the intersection of rare conditions, disability, and patient advocacy.
 
Amy initially started advocating in the rare disease space due to her best friend’s sibling’s rare genetic disorder, Congenital Hyperinsulinism. We actually interview their mother on Episode 37 of It Happened To Me. As a high schooler, Amy started educating their peers and community about rare disease on Rare Disease Day every year. After moving to Boston, she started volunteering at a Community Engagement Liaison for the Rare Action Network (RAN), the advocacy branch of NORD, then became the RAN Massachusetts State Ambassador. Through this work, she started putting on Rare Disease Day events at Boston Children's Hospital, and now at Johns Hopkins Hospital as a genetic counselor. Rare Disease Day allows all rare disease stakeholders to come together to share their experiences and continue to learn. Amy is passionate about this global effort to raise awareness and advocate for improved quality of life, diagnosis, and access to care for Rare patients and families.
 
Want to listen to our other episodes with genetic counselors? 
 
In Episode 4, our Executive Producer, Kira Dineen, who is also a genetic counselor, shares how genetic counselors can help people navigate having a rare disease. 
 
In Episode 7, Genetic Counselor Karen Grinzaid explains prenatal and cancer genetic testing. Kira also joins as a guest host since this is her area of expertise. 
 
Want to speak to a genetic counselor? Find one in your area via FindAGeneticCounselor.org.  
 
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 ItHappenedToMePod@gmail.com. 
 

#74 Genetic Counseling for Rare Diseases with Kira Dineen [Re-Release]

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 ItHappenedToMePod@gmail.com. 

#73 Running Toward a Cure: NF2 Advocate Becomes Marathon Runner to Raise Awareness & Funds

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 ItHappenedToMePod@gmail.com. 

#72 Wolfram Syndrome Expertise from Dr. Fumihiko Urano [Re-Release]

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 shurst@wustl.edu. 
 
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 ItHappenedToMePod@gmail.com.

#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 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 ItHappenedToMePod@gmail.com.

#70 The First Spinraza Patients: A Rare Mama’s Advocacy for her Son with SMA

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 ItHappenedToMePod@gmail.com.