Huntington Disease Case Studies and Behaviors
Again, the prediction of a healthy individual is so compelling . We're used to seeing kids and adults where we diagnose disorders when they come in with symptoms, and of course that's devastating but we know something isn't right. We're looking for an explanation; I'm sick, there's a problem, tell me what's going on. So there you're doing more confirmatory, diagnostic studies; there's something wrong, tell me what's going on. Whereas with the prediction, I'm coming in healthy. I'm coming in fine, but I'm at risk. And I'm at risk for something for which you can do nothing.
So much of our counseling is looking at weighing the risk versus the benefit, the value of knowing, the motivation for knowing. Because once I give you the test results, once you have your answer, you no longer have the option of not knowing. I can't take it back. So it's an issue that people have to face and feel very comfortable, feel very sure, about going forward. Let me tell you about two individuals who have come into this testing from very different backgrounds and you can see the difference that people enter with:
Story #1. A 26 year old man was put into foster care when he was four years old and then was adopted into a wonderful home. He was quite lucky. He has very little memory of his early childhood. He was a college graduate. He started his own business, is getting married. One day he goes to the mailbox, opens a letter. His biological father died of complications of Huntington Disease. He's stunned. He had no knowledge, no anticipation, no witness.
Story #2. A 38 year old woman who has no memory of a healthy mother. Her memory pictures her mom sitting in a chair, watching TV, pacing, very fidgety, very nervous, very paranoid, angry outbursts, withdrawing from social activities, never having friends over. My patient cleaned the house when she was six years old. She cooked dinner, went shopping, took care of her three younger siblings by the time she was ten. Her dad was around but not emotionally accessible. He was either working during the day or taking care of mom or, unfortunately, drinking at night. So, this woman never remembers a time without Huntington Disease.