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.
