Celebrating Unity and Resilience: TCSF's 9th Annual SCN8A Clinician, Researcher, and Family Gathering
Amidst the enchanting atmosphere of Orlando, Florida, The Cute Syndrome Foundation (TCSF) hosted its 9th Annual Clinician, Researcher, and Family Gathering from December 1st to December 2nd, 2023. This event illuminated the path forward for SCN8A research, treatments, and support and brought together families, clinicians, researchers, and industry leaders in a shared journey of discovery, unity, and resilience.
Family SCN8A Education
The weekend commenced on December 1st with a family meet and greet, setting the tone for a weekend of connection and collaboration. The educational portion of the event featured talks by esteemed researchers, including "SCN8A 101" by Dr. Eric Wengert and "Emerging Treatment Options for SCN8A" by Dr. Madeleine Oudin, a distinguished researcher as well as the mother of a child with SCN8A.
The Annual Gathering
The Friday evening Annual Gathering brought together over 150 professionals and families and transcended its role as a mere event. It became a vibrant space for connection, where stories intertwined, experiences were shared, and a sense of camaraderie enveloped all. This gathering served as a testament to the strength and unity inherent in the SCN8A community.
Cutting-Edge Insights into SCN8A
The event highlighted the latest advancements in SCN8A research and clinical treatments. Clinician presenters—including Dr. John Schreiber, Dr. Jillian McKee, Jan Magielski, and Joshua Hack—delved into the intricacies of clinical treatments. Their presentations offered attendees a comprehensive understanding of the current landscape, shedding light on the strides being made in providing effective care and support for individuals and families affected by SCN8A.
The presentations given by researchers Dr. Al George, Dr. Jennifer Wong, Dr. Michael Hammer, and Dr. Jacy Wagnon were equally noteworthy; they revealed the latest breakthroughs in SCN8A research and explored new avenues for understanding the disorder at a molecular level. The research shared was insightful and fostered optimism and hope within the community.
A special thank you to Dr. Schreiber for moderating the clinician presentations and Dr. Manoj Patel for overseeing the researcher presentations. Your unwavering support for our community does not go unnoticed and is greatly appreciated!
During the event, two touching stories were shared. Marianne Sutcliffe, SCN8A mother and TCSF Board of Directors Secretary, recounted her family's unpredictable SCN8A journey with her daughter, Brianna. Shawn and Krista Smith shared their own journey with their SCN8A angel, Connor, and provided updates about TCSF's Connor James Smith Patient Assistance Grant. This grant has positively impacted 12 families within the SCN8A community since its inception in early 2023.
The evening was enriched by industry presentations from Dr. Brian Pfister of Praxis Precision Medicines and Dr. Svetlana Shore along with Fiona Scott from Neurocrine Biosciences. Dr. Pfister provided insights into PRAX-562, a next-generation anti-seizure small molecule in development for SCN8A-DEE, while the Neurocrine Biosciences team presented research updates and discussed potential advancements in treatment.
The collaborative support from platinum sponsors Praxis Precision Medicine and Neurocrine Biosciences underscored the importance of industry involvement in advancing SCN8A research and treatment.
2023 CUTIES Awards
Against this backdrop of groundbreaking information, the CUTIES Awards took center stage, acknowledging the outstanding efforts of Dr. Madeleine Oudin, Tufts University researcher and SCN8A mom; Dr. Scott Perry, neurologist at Cook Children’s Hospital; and Shawn and Krista Smith, parents of SCN8A angel Connor, and founders of TCFS’s Connor James Smith Assistance Grant. These individuals were celebrated for their exceptional contributions to understanding, treating, investigating, and empowering those with SCN8A.
CUTE Connection Family Activities
Saturday began with a family breakfast, featuring updates from the SCN8A European Federation by Cinzia Scarcelli. Rebekah Palmer then introduced the Mark Making process, a collaborative effort between TCSF and SCN8A parents Constantine Loucopoulos and Ghaith Al-Badri. The process showcases the artistic expressions of SCN8A children, siblings, and parents and will be exhibited in an art gallery in Australia to honor their SCN8A angel, Layla.
The festivities continued with a variety of engaging activities for children, including games, art creation, and heartwarming visits from therapy dogs Mariah and Peace, courtesy of the Trinity Lutheran Church in downtown Orlando. Heroes for Hire brought an extra dose of joy, dressed as beloved superhero characters, and the children were thrilled to receive handmade dolls from Feel Better Friends. The day concluded with parents indulging in well-deserved chair massages from JoyLife Therapeutics, followed by relaxation by the hotel pool cabanas or a cozy movie in air-conditioned comfort, both activities providing a space where they could be entirely themselves.
The 9th Annual Clinician, Researcher, and Family Gathering was a resounding success, fostering connections, celebrating achievements, and providing a supportive environment for SCN8A families. The event highlighted the importance of unity, resilience, and ongoing efforts to enhance the lives of those affected by SCN8A. As we look forward to future gatherings, the magical memories created at this event will undoubtedly resonate within the SCN8A community for years to come.
Watch the event recording!
Photos by: Ryan Collerd
A special thanks to our Platinum Sponsors who made this event possible: