In September, I made my first trip out to the West Coast for my first ever rare disease conference--the Global Genes Patient Advocacy Summit. This conference is the largest gathering of rare disease stakeholders in the world, and it’s an opportunity to meet new people, make connections, and learn from the experts.

Through Jane I learned about a new rare disease, CADASIL, which stands for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. In layman’s terms, CADASIL is a genetically inherited disease where just one defective NOTCH3 gene copy on chromosome 19 (from mom or dad) is enough to cause the small blood vessel walls within the white matter of the brain to thicken, making blood circulation more challenging. Eventually, the poor blood flow can lead to a total blockage that triggers a stroke. This results in brain lesions of dead tissue that are responsible for the subsequent cognitive deficits that ultimately lead to dementia.