NEDAMSS With Liz From Florida

Send us Fan MailIn 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.Are you looking for something to lift a loved one that is not as big as a Hoyer Lift?  Now their mechanical lifts that go on a track on the ceiling.  Ask your state case manager if they will fund it?  if not financial aid is available.  https://www.surehands.com/products/ceiling-track-railsResources & 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_webinarSupport & 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 LinkedInMental Health Support: If you or someone you know is struggling, call or text 988 in the U.S. for 24/7 confidential help.Chapter Markers00:00 Intro02:16 What is IRF2BPL (NEDAMSS)05:37 How Long ago was the name change08:49 Special Diet?10:38 Treatment15:07 Elly's path to gene therapy19:40 Role of Weill Cornell in making gene therapy happen22:20 Letter from the Krueger Family26:05 Bring gene therapy from one patient to many30:09 Get involved with Elly's team31:54 Importance of Collaboration between researchers and families32:19 What gives Liz the most hope?34:01 Advice to other families waiting for a breakthrough in their child's condition35:07 Many state Medicaid programs will pay for one piece of equipment per year. 36:16 ConclusionSupport the show