Copper is an essential trace element but due to its toxic potential, it is normally tightly bound to copper carrying proteins inside the liver and excess copper is eliminated from the body via biliary excretion.
Wilson Disease is a genetic disorder where loss of function of the ATP7B copper-binding protein leads to impaired copper transport and excretion. This results in accumulation of free copper in the bloodstream, and ultimately in damaging accumulation of copper in the liver, brain and other organs.
Wilson Disease affects approximately one in every 30,000 people worldwide, at any age, corresponding to a prevalence of approximately 10,000 patients in the US and 15,000 patients in the EU. The disease is however hard to differentiate from other serious hepatic or neurologic conditions, so not all patients are likely to be diagnosed and more recent studies suggest its prevalence may be higher than this.
Wilson Disease is fatal if left undiagnosed and untreated so all patients diagnosed, irrespective of type and severity of symptoms, must receive life-long therapy for their disease.
Watch the video below with Emma depicting how Wilson Disease affects her life and her dreams, and with her treating doctor, Professor Aftab Ala, describing the diagnosis, treatments and medical needs of Wilson Disease.