Story
CADASIL is a rare genetic disorder that runs throughout our family either actively or laying dormant in our genes.
There is no cure for this disorder due to lack of funding and awareness, even in the medical field. Most doctors we come across have no knowledge this even exists, let alone how to help a Cadasil patient.
While we may never be lucky to see a cure for Cadasil in our time, each generation of our family has a 50% chance of inheriting this condition, so I would like to do my bit to help raise awareness and funds that are vital to their future.
So what is CADASIL...
CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical infarcts and Leukoencephalopathy) is a rare hereditary disorder affecting small blood vessels in the brain. Caused by mutations in the NOTCH3 gene, it leads to thickening and narrowing of the arteries, increasing the risk of stroke-like episodes and progressive white matter brain damage.
It is usually inherited from either parent, but can also happen sporadically (new mutation). Each child of a parent with the genetic mutation will have a 50% chance of having the condition.
CADASIL results in damage to small blood vessels in the brain. This damage cause the typical symptoms of CADASIL:
• Stroke
• Cognitive impairment
• Migraines and aura
• Psychiatric disturbances ranging from changes to personality and behaviour or depression
• Epilepsy- Seizures
• Mobility issues - weakness
