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
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