Welcome

Sarah Scott, mom to Sam with Shashi-Pena Syndrome, opens the 2026 ASXL Family Conference and welcomes our community to Ann Arbor with a special video message from ARRE Foundation founder and chair, Laura Badmaev.

The power of a rare disease community

What can families do to move the needle on research for their child's condition — and how much does it actually matter? Pangkong Fox, PhD, knows this question from both sides: as a cell and molecular biologist, and as mom to Alex, diagnosed with a CACNA1A-related disorder in 2021. Now the Science Engagement Director for the CACNA1A Foundation, she uses "conversational science" to help parents become powerful advocates and active partners in the search for treatments. In this opening keynote, she explores what rare disease communities — including ours — are uniquely positioned to accomplish together.

The path to treatments for ASXL-related disorders

What will it actually take to find treatments for ASXL-related disorders — and how close are we? In this session, you'll meet the scientists and doctors of the ARRE Foundation's Medical and Scientific Advisory Board and hear directly from them about their work and what it means for your family's future. Dr. Karen Ho opens with a plain-language overview of the drug development process and where ASXL research stands today.

Panelists: Valerie Arboleda, MD, PhD (UCLA) · Stephanie Bielas, PhD (University of Michigan) · Eric Conway, PhD (University College Dublin) · Rob Illingworth, PhD (University of Edinburgh) · Natasha N. Ludwig, PhD (Kennedy Krieger Institute / Johns Hopkins) · Bianca Russell, MD (UCLA) · Wen-Hann Tan, BMBS (KK Women's and Children's Hospital Singapore; Boston Children's Hospital)

Communication in the context of neurodevelopmental diversity

For many ASXL families, communication — and the behaviors intertwined with it — is one of the most pressing and complex daily realities of caregiving. Celina Cerf, MD, SLP, brings a rare dual perspective to this conversation: a speech-language pathologist who specialized in language development and functional communication in neurodiverse children before going on to train in neurodevelopmental medicine at Kennedy Krieger Institute. In this session, she explores how communication and behavior intersect in the context of neurodevelopmental disorders, and what families and caregivers can do to better understand and support their child.

🦋 Remembrance ceremony: Celebrating lives remembered

Courtyard patio · Access via Coaches Boardroom

Join us for a non-faith-based moment of remembrance honoring children from the ASXL community who have passed away. Through the reading of names and simple symbolic acts, we will celebrate the joy, connection, and lasting impact these children brought to the lives of those who knew and loved them. Families are invited to participate in whatever way feels most comfortable. No one will be asked to speak or share.

Welcome

ARRE Foundation Executive Director Amanda Johnson welcomes our community to the final day of the ASXL Family Conference.

Gastrointestinal disorders and observations in children with ASXL-related disorders

Gastrointestinal problems — including constipation, feeding difficulties, reflux, and motility issues — are among the most common and disruptive challenges families of children with ASXL-related disorders face. Dr. Alejandro Velez Lopez, a pediatric gastroenterologist and director of the neurogastroenterology and motility program at the University of Michigan Mott Children's Hospital, breaks down why GI and motility challenges are so prevalent in children with neurogenetic conditions, how clinicians approach evaluation and diagnosis, and what families should know about current management strategies and treatment options.

Epilepsy: From the basics to the complex

Epilepsy is one of the most common and consequential features of rare neurogenetic conditions, and navigating it can feel overwhelming for families. Dr. Laurel Reed, a pediatric epileptologist at the University of Michigan Mott Children's Hospital who co-founded a multidisciplinary epilepsy genetics clinic focused on complex and genetic epilepsies, walks families through the essentials: how epilepsy presents in neurogenetic conditions, how clinicians approach diagnosis and management, what families should know about current treatment options, and what emerging precision therapies may mean for children with genetic epilepsies in the future.

Together in the hard: Supporting each other in the ASXL community

The emotional weight of raising a child with a rare disorder is real — and too often goes unacknowledged. Amanda Griffith-Atkins, LMFT, PMH-C, has made it her life's work to change that. A therapist, author, and parent of a child with a rare disability, she is widely known for giving voice to the caregiver experience with clarity and compassion that resonates deeply with families like ours. In this closing keynote, Amanda reflects on what it means to carry hard things together — validating the full reality of life as an ASXL caregiver while making the case for why community and research participation are among the most powerful things we can do for our children and for each other.

Closing remarks

Sarah Scott, Family Education and Engagement Coordinator at the ARRE Foundation and mom to Sam with Shashi-Pena Syndrome, sends our community off with a few final words — carrying the energy of the weekend forward into the work ahead.