Rare Connection
Rare Connection is a podcast dedicated to rare diseases, undiagnosed conditions, patient advocacy, medical research, and the people working to improve the lives of those living with rare disorders.
Originally launched as Nutrition Equity, the podcast expanded into Rare Connection to reflect its broader mission: sharing the stories, science, and research behind all 10,000+ known rare diseases—not just those related to the Medical Nutrition Equity Act.
Each episode features conversations with patients, caregivers, physicians, researchers, nonprofit leaders, advocates, and biotechnology experts. Together, we explore rare diseases, genetic disorders, newborn screening, clinical trials, emerging treatments, healthcare policy, diagnostic journeys, and the challenges of living with conditions that are often misunderstood.
In medicine, common conditions are often referred to as "horses," while rare diseases are known as "zebras." Although each rare disease affects relatively few people, more than 300 million people worldwide live with a rare disease. Collectively, rare diseases impact more people than many realize, yet they are frequently underdiagnosed, misdiagnosed, or diagnosed only after years of searching for answers.
I host this podcast not only as an advocate, but also as someone living with Homocystinuria (HCU), a rare inherited metabolic disorder. I understand firsthand how isolating a rare diagnosis can be and how important education, research, and community are for patients and families.
Whether you are a patient, caregiver, healthcare professional, researcher, policymaker, student, or simply curious about rare diseases, Rare Connection aims to educate, inspire, and connect people through real conversations and expert insights.
Video episodes are available on YouTube through Rare_Chef, with audio available on all major podcast platforms.
If you have a rare disease, undiagnosed condition, or work in rare disease research, advocacy, or healthcare and would like to be a guest, I'd love to hear from you. Please contact me at joanna.ball41@gmail.com.
Rare Connection is more than a podcast—it's a growing community. Beyond sharing educational interviews, I help connect patients and families with rare disease organizations, Facebook support groups, advocacy groups, clinical trial information, researchers, and others who may be able to provide support or answer questions. Sometimes the most important step is simply helping someone realize they are not alone.
Rare Connection
NEDAMSS With Liz From Florida
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In this episode of Rare Connection, Joanna speaks with Liz, mother of Stephanie, about the ultra-rare IRF2BPL genetic disorder—also known as NEDAMSS—and the groundbreaking milestone of the first-ever IRF2BPL gene replacement therapy. We discuss what this means for the rare disease community, the hope it brings to families, and the path toward future treatments.
In the video version of this episode, you’ll also see a moving photo tribute of Stephanie’s life, highlighting both her journey and the determination of her family to push research forward.
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Resources & Links Mentioned:
📌 Read more about Elly’s groundbreaking treatment: https://ellysteam.org
📌 Sign up for Elly’s Team webinar updates: https://www.surveymonkey.com/r/IRF2BPL_webinar
Support & Connect:
💬 Comment below (video) or use the “Send Me a Text” link in the show notes (audio)
📺 Subscribe to our YouTube channel, Rare Chef
🔗 Follow Rare Connection on Facebook, X, and LinkedIn
Mental Health Support:
If you or someone you know is struggling, call or text 988 in the U.S. for 24/7 confidential help.
Chapter Markers
00:00 Intro
02:16 What is IRF2BPL (NEDAMSS)
05:37 How Long ago was the name change
08:49 Special Diet?
10:38 Treatment
15:07 Elly's path to gene therapy
19:40 Role of Weill Cornell in making gene therapy happen
22:20 Letter from the Krueger Family
26:05 Bring gene therapy from one patient to many
30:09 Get involved with Elly's team
31:54 Importance of Collaboration between researchers and families
32:19 What gives Liz the most hope?
34:01 Advice to other families waiting for a breakthrough in their child's condition
35:07 Many state Medicaid programs will pay for one piece of equipment per year.
36:16 Conclusion