Disclosure of results is tough!
Now, for result disclosure - let me tell you. I've been doing genetic counseling now for about 18 years. And there is nothing that even comes close to the kind of communication when you tell someone about the rest of their life and what's ahead of them. It generally takes place about two weeks or more after they've had their blood drawn. And I emphasize to the individual and the family, that it's likely that they may experience all sorts of somatic and emotional turmoil during that waiting period. They may have nightmares, they may have stomachaches, they may be irritable. And I remind them, please don't take anything personally during this time period. You are under such incredible stress, give yourself a break. Pamper yourself. You've done your part. Please, understand that you may be a little tense over the next couple of weeks and give yourself that leeway.
Disclosure is always done in person. And it's always done with a trusted individual, whether that be a spouse, a friend, it doesn't matter, but someone with whom you feel close and comfortable. It's done very gently but directly, because this is the answer to the question you asked. Of course it's tailored to the individual, but generally speaking, I often start by telling people about their neurological evaluation, which they had during that initial protocol visit if the results are positive. So, we go over the neurological symptoms first. I advice them of the findings and often the neurological exam has shown them to be quite neurologically intact. There may be a few symptoms, but this begins the process of disclosure.
If the exam is normal, that helps in explaining that even if they do have the gene, they don't yet have the disease. There's a big difference. There's no obvious gene expression. Whereas if the exam does have findings, they hear me and they begin to anticipate and in some way prepare themselves, they shore up for the results. The gene is either present or it is not. And we end up talking a great deal about life beyond the decision, adjustment to either good or bad news. And people are often surprised that there's any adjustment to good news. My gosh, you would just go celebrate, have every reason in the world to be as happy as you could possibly be. How could there be an adjustment to good news?
Well, remember that many of the folks that I work with have lived with being at risk for years, decades. They've defined themselves as being "at risk". There was a woman who lived at risk. She was in her thirties and she was given preferential treatment by her friends, even her relatives. She was at risk and she was pampered, included, made sure that she was made to feel special. Well, she came in and was tested, found out that she did not have the gene. She was no longer special and she missed it.