2023 AES: AES-CNF Symposium | Dilemmas in Genetic Testing: Ending the Diagnostic Odyssey in Epilepsy-Patient & Caregiver Dilemmas: What I Would Like Clinicians to Know

Video Transcription

Video Summary

Tristan West, a parent of two children with complex neurological conditions, shares her journey at the Child Neurology Foundation, emphasizing the vital role of community and understanding in managing such challenges. Her son, Jason, diagnosed with MN1 C-Terminal Truncation Syndrome after extensive genetic testing, and daughter, Cosette, with hereditary spastic paraplegia, highlight the differing experiences in obtaining genetic diagnoses. Tristan underscores the challenges families face, including the high cost, accessibility, and complexity of genetic testing. She stresses the importance of clinicians supporting families by providing resources and connections. Tristan's message is clear: every child, regardless of their abilities, holds intrinsic value and deserves quality care. Her story highlights how a diagnosis can dramatically shift a family's life, offering community and critical medical interventions, urging medical professionals to engage deeply in their patients' diagnostic journeys. Her advocacy has led to forming a global community of families affected by MN1 conditions.

Asset Subtitle

Presenter: Tristin West

Keywords

Child Neurology Foundation

genetic testing

MN1 C-Terminal Truncation Syndrome

hereditary spastic paraplegia

community support

family advocacy