Welcome to the 2026 ASXL Family Conference

Laura Badmaev, mom to Alex with Bohring-Opitz Syndrome and founder and chair of the ARRE Foundation, opens the 2026 ASXL Family Conference and welcomes our community to Ann Arbor.

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

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 who they are, why they're in this fight, and what their work means for your family's future. Dr. Karen Ho will open with a plain-language overview of the drug development process and where ASXL research stands today, then each panelist will share their piece of the puzzle from natural history and biobanking to animal models and cell biology, all explained in everyday terms.

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 Serf, 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 session

Courtyard patio · Access via Coaches Boardroom

Before the morning program begins, we will pause to honor the memories of those in our community we have lost. Names will be read aloud and a bell rung in their honor. All are welcome to attend.

Welcome · Amanda Johnson, Executive Director, ARRE Foundation

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

Gastrointestinal and motility challenges in neurodevelopmental 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 is a pediatric epileptologist at the University of Michigan Mott Children's Hospital, where she co-founded a multidisciplinary epilepsy genetics clinic with a focus on complex and genetic epilepsies. In this session, Dr. Reed walks families through the essentials: how epilepsy presents in neurogenetic conditions, how clinicians approach diagnosis and clinical 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 the 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.