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So how is HD diagnosed? If a person suspects they have Huntington's disease, they should consult their GP and ask for a referral to a neurologist for diagnostic, clinical and genetic testing. If they already show symptoms of Huntington's disease, a doctor may make a diagnosis on the basis of their medical and family history, and clinical findings. This is then confirmed by a genetic blood test. If a person doesn't show any symptoms but is at risk of Huntington's disease because a parent or grandparent has Huntington's, they may choose to undergo a predictive test by a regional genetic service (a clinic where you would need to go and have some counselling sessions before a predictive test). There's a strict protocol around predictive testing, and normally you would expect to have three sessions of counselling before having that predictive blood test.
So getting a diagnosis can mean different things to different people. For example, when I was speaking to somebody recently they said, "I was given my diagnosis at the hospital and my first thought wasn't for myself, but for my children. It means they have a 50% risk of getting the disease and that really frightens me more than anything that might happen to me."
A carer had said to me, "When my husband finally got his diagnosis, it was a relief, because it gave us a reason for the changes in his behaviour and thinking, which had meant our relationship had suffered. Now I know that it wasn't me or him, but the effects of the disease."
People can occasionally be misdiagnosed with Huntington's disease. People have been diagnosed with schizophrenia and bipolar disease before the physical symptoms come. If they don't have a clear-cut family history of Huntington's disease, it can be difficult to pinpoint in the very early symptoms. Quite often people are diagnosed with a mental health condition before they are diagnosed with Huntington's disease. Depression and anxiety are often the very early signs of the illness but it's not often picked up if there's not a clear-cut family history, which sometimes there isn't for various reasons.
