With a frequency of 1:30,000 in the population, Wilson's disease is one of the rare diseases and was first described by Samuel A. K. Wilson in 1912.

In Wilson's disease, the excretion of copper via the bile ducts is impaired due to a genetic defect on the 13th chromosome in the ATP7B gene. Copper ingested with food is mainly stored in the liver. From there it can enter the brain, the kidneys and the cornea of the eye. Years of harmful copper accumulation can lead to hepatitis, liver cirrhosis and neurological deficits. These include, for example, a deterioration in handwriting, impaired speech motor skills, tremors in the limbs as well as gait and swallowing disorders. The first symptoms usually appear between the ages of 6 and 40, in rare cases also in later adulthood.

If the diagnosis can be made early and the disease is treated consistently throughout life, the prospects for a ‘normal’ life with Wilson's disease are very favourable. Patients are predicted to have an average life expectancy with treatment.

Small amounts of copper are present in almost all foods. The lifelong treatment of Wilson's disease patients therefore consists of taking tablets that prevent the copper ingested through food from accumulating in the body. Neurologically affected people have a chance of improving their symptoms through drug therapy. However, there are also forms of the disease in which patients have to cope with the neurological symptoms for the rest of their lives despite treatment. The extent of the symptoms typically increases with the age of diagnosis.

In rare cases, where the liver is so severely damaged that it is no longer functional, the only last resort for those affected is a liver transplant.

Coming to terms with one's own illness is of fundamental importance for all patients. Especially with a disease as rare as Wilson's disease, patients should be well informed about their illness and state of health so that they can have a say in discussions with carers.

The following pages are designed to help you do just that.