On Rare

In this emotional episode of On Rare, David Rintell, Head of Patient Advocacy at BridgeBio, and Mandy Rohrig, Director of Patient Advocacy at BridgeBio Gene Therapy, speak with Dawn, the single parent of Vayle, a 5-year-old girl living with Canavan Disease. Dawn shares how she came to realize that Vayle was not meeting developmental milestones at 3-4 months old. Despite initial reassurance from her pediatrician, Dawn’s maternal intuition proved correct, leading to a diagnosis of Canavan Disease during Vale’s 6-month checkup. Dawn was told that Vayle might not live beyond the age of ten.

Dawn recounts the emotional challenges of adapting to the diagnosis, while learning how to manage Vayle’s increasingly complex medical and care needs. Even with the expectation of a shortened life, Dawn emphasizes the profound love and quality of life she and Vayle share, underscoring her deep commitment to making Vayle's life as comfortable and joyful as possible. Dawn hopes that telling Vayle’s story can bring awareness to this rare disease and help other families going through similar circumstances. This, she hopes, will be part of Vayle’s legacy.

Dr. Dominic Gessler, a physician and researcher who has extensively studied Canavan Disease explains that Canavan Disease is an autosomal recessive genetic disorder caused by mutations in the ASPA gene, leading to the accumulation of a chemical called N-acetyl-L-aspartic acid, or NAA, throughout the body. The accumulation of NAA is thought to damage the white matter in the brain. Symptoms of Canavan disease become apparent as children fail to meet developmental milestones. As always, questions about your healthcare and the healthcare of your family should be discussed with your physician.