p.Q511X, (c.1531C>T), is a genetic mutation classically associated with Wilson’s disease. Wilson’s disease is a copper transport disorder in the body. Copper is in nearly everything we eat, the disease prevents the copper from being removed from the body. Over time the copper will accumulate, and where it is deposited will induce a symptom related to that organ, Most typically it collects in the liver and will manifest as a liver disease, it can also collect in the brain causing neurological disorders.
This is a collection of moments in my life affected by my mutant gene.