Usually, the diagnosis is made by a specialist in HD, who may be either a neurologist or a psychiatrist. Diagnosis is based on a family history of HD, plus physical symptoms. Cognitive or personality symptoms alone are not enough to diagnose HD.

If there are worrying symptoms but no obvious family history (as may happen, for instance, if the person does not know their biological mother or father), then a gene test can confirm whether or not a person is at risk. (See: PREDICTIVE TESTING)

Sometimes a person may have symptoms for some time before they are ready or able to face diagnosis. It is important for carers to understand this reluctance. For some people, it may be easier to go on without a diagnosis until it can no longer be avoided.

COPING WITH THE DIAGNOSIS

It is far from easy for those who are well to imagine what it is like to learn that one has a fatal illness. The reaction of the HD sufferer will depend on many factors; what they may already know or have experienced of the illness; what they stand to lose - career, money, sporting activities, a better standard of living; what they fear they may lose - the love of a partner, control of one’s body and mind, the type of personality they have. The person too may feel deeply angry that fate has singled him or her out for this terrible illness and wonder what he or she has done to deserve it. The person may become depressed or very active to avoid facing the distressing feelings.

What can you do to help?

Be patient and try not to take angry remarks personally, or to deny the person the right to be sad. If you can share the sorrow and anger together, that is often good, but if this is not possible don’t feel ashamed of finding someone outside the family to help. It is often easier to talk to a person outside the close family circle, perhaps someone from your church, a trusted relative, a good friend or a case worker from the Australian Huntington’s Disease Association (Vic) Inc.