I look around the waiting room and locate the young man I’d met a couple of months ago. His gaze is already fixed on me and when I smile and beckon him closer, he jumps up. As he approaches, I read the words printed on his hoodie, and suppress a laugh until we get to the office.
“I love your shirt,” I tell him. “You’ve got a great sense of humor.” He glances down at the shirt, and looks up at me, a little befuddled. I clarify, “‘Choose your next words wisely’? That’s great. ... Though I must admit it makes me a little apprehensive.”
He understands, but he’s surprised. “Honestly, I just grabbed a comfortable shirt. I didn’t even think about the message.”
I ask him my basic questions. His physical and psychological health haven’t changed since I met him a month and a half ago, and of course he still wants to know the results. I check his name and birthdate against the lab report in my hand, then look him in the eye. “I have good news for you. You do not have the gene for Huntington’s disease.” Stacey and I smile at him, relieved to have some good news for him. To our surprise, he ducks his head for a minute, and when he looks up, he’s clearly hiding tears. “Are you OK?” asks Stacey. “You heard you’re not going to get HD?” He jerks a nod, reaches for the tissue box on the desk, blows his nose and takes a deep breath. “I know, it seems backwards. I think I’m even more emotional because I’d been preparing myself to get the other result.”
One of the biggest surprises to people who start working with presymptomatic testing is seeing negative reactions to a negative test result. This fellow was tearful for a minute or two, and honestly we can empathize with the quick sigh of relief when one dodges a bullet. But for some patients it goes beyond that. It turns out that good news—clear test results—can even lead to suicide: the suicide rate over the weeks after disclosing a negative result is higher than expected. Various clinicians have tried to explain this. One theory is that this negative reaction reflects survivor’s guilt (“why do I get a pass but my brother and sister didn’t?”). Occasionally people report such thoughts after getting a normal test result, but in my experience only a few endorse survivor’s guilt.
Some of our patients have described other reasons for their negative reactions to a normal test result. One remarkable woman was a little older than our average presymptomatic testing patient. She had known for years that she was at risk, but finally decided to find out for sure whether she carried the HD gene. The test results visit was unremarkable; she expressed relief and thanked us for our time. A few weeks later, however, she wrote to say that she had found adapting to the negative results to be surprisingly difficult. She included a poem that described her experience beautifully, and she graciously allowed us to reprint it here.
Invisible Tiger:
On the results of genetic testing for Huntington's Disease
You have been my companion
for over thirty years.
I have lived in fear of you,
I have tried to ignore you,
I have looked obsessively
For every sign of your striking
For years and years and years.
I watched you slowly attack my father
And now my sisters,
As we helplessly watch them fall,
Unable to stop you.
Who is next?
We all try not to wonder.
And yet,
I have been driven by your presence.
All of my decisions have been weighed
By your ability to destroy at any time.
You have kept me humble and focused.
You have taught me that joy and tragedy
Are intertwined.
They strengthen each other.
I have come to value my mind and body.
I have kept them strong in preparation
For the fight.
I brought three daughters into this world,
A huge risk,
But one that meant hope
Was stronger in me
Than you were.
And now,
With a simple blood test,
You are gone.
I no longer hear
Your silent roar.
Joy and astonishment and celebration!
All the love that surrounds me
Rejoices with me.
And my daughters, my daughters!
I tell each of them proudly
That this particular tiger
Will never stalk them.
They will never feel
Your hot breath on their neck
As they try in vain
To protect their young.
Still,
I can’t help but wonder
If this gift of a blood test
Has taken something away from them.
You have formed me.
Learning to live with you
Has made me strong,
That which was threatened
Has become a treasure.
I don’t regret your presence,
I have learned to love you
In the strangest of ways.
But if it is your death or mine,
I am willing to bid you
Good-bye.
©2007Surprise when we don’t get the answer we expected, survivor guilt, or something akin to loneliness when a chronic threat suddenly disappears—these theories make sense, but none of them explains the more severe emotional reactions that sometimes follow a negative test result. I’ve come to believe that we try to understand, and think we understand, because telling a story to explain the world is simply what we humans do. I’m not sure that anyone really understands why good news in this setting can throw us into emotional turmoil. But sometimes it does nevertheless.