As I walk past the waiting room, Emily and her mother spot me. Their eyes track me intently, as if I were a predator. I know what they’re thinking: “Does it mean something that he looked at us? Is he rushing past so he won’t have to say hi? Was that a ‘hi’ smile, or was that a sad smile of pity?” I know this not because I have any mind-reading ability, but because so many have told me so about half an hour after this walk-by. They are always trying to read something into my attitude, my tone of voice, my every word.
The truth is, I don’t mean any of those things. In fact, I am trying as hard as I can to present a neutral façade. Well, to present a neutral façade without looking like an uncaring robot.
The problem is, I am carrying a piece of paper that will change their lives forever. They know this; hence their wary attitude. The piece of paper is not an arrest warrant or subpoena. It is not a cashier’s check. In fact, with only minor exaggeration one can say that it carries only a single bit of information: a Yes or a No. The page reports the results of a genetic test for Huntington’s disease.[1]
Huntington’s disease is not like pneumonia. Pneumonia is a potentially deadly illness, but it can be cured, and it doesn’t affect who you are. By contrast, if one of your two huntingtin genes is abnormal (you have one from each parent), at some point in your life you will inevitably begin showing signs of HD. And since HD primarily affects the brain, it affects you as a person. Doctors talk about the three M’s of HD: movement, memory and mood. The point of the three M’s is that a variety of brain functions are affected, yet even that list is quite incomplete. For instance, the three M’s ignore personality change, which is often the first symptom to appear. Numerous research groups are working hard to identify a cure for HD, but as of this writing, HD is still inexorably progressive. It eventually takes the patient’s life.
Emily in the waiting room knows about HD from reading about it, but also from real life. She cherishes a few happy memories of her father from her childhood: gentle and silly with her, and respected in the community. By her early teens, he was harder to get along with, and he started to snap at her over trivial things. Of course every dad is hard to get along with when you’re 13, but it got worse. Her father started to skip work for no obvious reason. The family only found out when eventually he was fired, and Emily’s mother discovered that he had spent most of their retirement savings over the past couple of years on investment scams. Fast forward three years; after some medications that didn’t do much and therapy that did even less, his fidgeting and twitching became more obvious, and he was finally diagnosed with HD. The diagnosis came when Emily’s mother had finally moved away with Emily.
That was 10 years ago. Over those years, Emily’s father’s symptoms worsened slowly but steadily. Two years ago the police found him hypothermic in the woods in January, stubbornly insisting that he was “just taking a walk”—in his shirt sleeves, 15 hours after he had gone out to get the mail. Her mother filed for guardianship and found him a nursing home. To their surprise, once he got there, he didn’t seem to mind. These days he just sits in front of the TV most of the day, but he says he’s happy.
Emily came to see us for testing because she’s thinking about starting a family, but she decided long ago she did not want to bring a child into the world with HD. The first step is finding out whether she carries the HD gene. I met with her last month for a psychiatric interview, and Stacey provided genetic counseling.
I invite her and her mother to come in to meet with Stacey and me. “OK,” I start, “I always ask people a few questions before we look at the results. I assume since you’re here you still want to get the results?” A tense nod. “Any changes in your physical or mental health since we talked last month?”
“No, except for not sleeping well last night, worrying about this meeting.”
“That’s natural. And let me check that we’ve got the right results here.” I read her name and birthdate from the lab results and she nods.
This next part is tricky. Doctors are used to talking about “positive” or “negative” test results, but those words don’t mean what you may think. A “positive” lab test means you have the disease we’re testing for, kind of like a positive pregnancy test means you’re pregnant. So I never say “your test was positive” or “negative,” because the technical meaning of those words is the opposite of their emotional meaning. Instead I say something like, “I’m sorry, but you do have the gene for Huntington disease,” or “We have good news: you do not have the gene for HD.” This time it’s the good news.
“Emily, I’m happy to tell you that you do not have the Huntington’s gene.” I hand her the lab report. She and her mom both cry. “Do you two want a minute alone?” They decline. We offer to answer questions and schedule a follow-up. A few minutes later, they hug Stacey, shake my hand, and walk off talking about how to celebrate.
“It’s a lot more fun when we get to give the good results,” Stacey comments, as we watch them leave.
“Yeah,” I reply shortly. Honestly I’m a little choked up. On one hand, Emily and I are still strangers, limited by a short acquaintance and separated by a wall of professionalism. On the other hand, I’ve had a surprisingly intimate glance into her life story and what makes her tick. I’ve known Emily for only an hour or two, spread over a few weeks, but in that short time I have learned about her background, her psychiatric history, her personality, how she got through the difficult moments she’s faced earlier in her life, and what interpersonal resources she can draw on, and I’ve seen her anxious and then relieved over her test results.
Perhaps surprisingly, Emily’s experience is about as simple as it gets. The following stories in this book cover a much broader range of how complicated this apparently simple lab test can turn out to be when it interacts with the complexities of people’s lives.
There’s a whole tempest in a teapot about what to call diseases named after a person. You can read about it here. At present, neurologists tend to favor “Huntington disease” without the possessive “’s”. However, almost everyone else says “Huntington’s disease,” so I’ll write it that way here, except when I just call it “HD,” as do many clinicians and families.