The SKDEAS Family Meeting is not just an event; it's a movement. Every two years, families, researchers, and supporters from around the globe come together to share, learn, and inspire. This year, we gathered in Philadelphia to continue our journey toward understanding and advocating for Skraban-Deardorff Syndrome.
Below, you will find insightful presentations from our esteemed speakers, each an expert in their field, sharing valuable knowledge and advancements related to Skraban-Deardorff Syndrome. These videos are a testament to the dedication and collaborative efforts within our community to improve the lives of those affected.
Fundraising Success
Speakers: Jenna & Scott Bunnell
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Jenna and Scott share the stories behind two successful fundraising events: "Pints for a Purpose," held in honor of Sabina and Molly Culp and the Andricci family's "A Night to Smile," held in honor of Caleb Andricci. Drawing on these experiences, they offer practical guidance on how families can plan and host fundraising events of their own.
Scientific Outbrief & Panel Discussion
Speakers: Cara Skraban, MD and Matt Deardorff, MD, PhD
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Our research and medical teams share exciting progress in understanding how WDR26 functions in the body. Because Skraban-Deardorff syndrome is caused by the body producing too little WDR26 protein, researchers are studying the condition in worms, fruit flies, and soon, specially developed mouse models to better understand the disease and safely test future treatments.
IEPs & Education Advocacy
Speaker: Bridget Geraghty Special Education Advocate, Belkowitz Law, PLLC
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At the conference, Bridget presents on IEPs and education advocacy, offering families practical guidance for working with their school teams and securing appropriate supports for their children.
Fundraising Journey
Speaker: Amber Freed, SLC6A1 Connect Founder
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Guest speaker Amber Freed shares how her family's determination helped transform a rare disease diagnosis into a movement that supported drug repurposing, gene therapy research, and greater awareness. Her story reinforces the important role families play in advancing research and creating new opportunities for the rare disease community.
Foundation Updates
Speaker: Kyle Hillman, SKDEAS Foundation President
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In this presentation, Kyle Hillman provides an update on the foundation's continued growth and impact. He reflects on how a small gathering of families has grown into an international community, highlights ongoing efforts to expand educational resources and advocacy initiatives, and reinforces that the foundation's success is powered almost entirely by the time, talent, and dedication of volunteers. If you have an interest in volunteering, but don’t know where to start, send a note to info@skdeas.org. We’d love to chat with you!
Communication & AAC
Speaker: Lori Paolini, SLP
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This AAC session explores practical ways families can support language development and communication at home. Families learn practical strategies for incorporating AAC into everyday routines, emphasizing the importance of consistent modeling, patience, and creating meaningful opportunities for communication. The session encourages families to view AAC as a tool for building language and fostering greater independence over time.
A Parent's Experience with a Drug Trial
Speakers: Cynthia Lang with Matt Deardorff
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Cynthia shares her family's journey pursuing compassionate use of Vorinostat for her son Sebastian, from navigating a lengthy approval process to the encouraging changes that followed. Presentation: "When Science Meets Parenthood: Our Experience Using Vorinostat to Treat Skraban-Deardorff Syndrome.
2026 Conference Speakers
Cara Skraban
MD
Christopher Gray
MS, LCGC
Lori Paolini
SLP
Lihsia Chen
PhD
Thomas Frazier
PhD
Yuanquan Song
PhD
Matt Deardorff
MD, PhD
Bridget Geraghty
PLLC
Arno Alpi
PhD
Jennifer Cohen
MD
Danny Miller
MD, PhD
Jonathan Wilde
PhD
Katie Grand
MS, LCGC
Amber Freed
SLC6A1 Connect Founder
Valeria Capra
MD
Vishnu Anand Cuddapah
MD, PhD
Caroline Schild-Poulter
PhD
How to Show Your Support
Your continued support remains essential as we build on the success of our recent Family Meeting. Every contribution, no matter its size, helps us sustain and expand our efforts. Here's how your generosity makes a difference:
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Event Follow-Up: Enhancing post-event materials and resources, ensuring all participants can revisit the valuable insights shared.
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Ongoing Research and Education: Supporting continuous education and the dissemination of the latest research findings to our community.
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Community Support: Providing ongoing resources and assistance to families, helping them navigate daily challenges with confidence.
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Future Planning: Preparing for future meetings and events to keep our community connected and informed.
By donating, you play a crucial role in our journey, helping to ensure that every family touched by Skraban-Deardorff Syndrome has the resources and support they need to thrive.