At the bus stop the other day I saw a young man who had no nose. No proboscis, no nasal hypoplasia, no midline facial cleft, no Voldemort nasal slits. Just a deep hole, the circumference of a quarter, in the center of his face. The shock was heightened by encountering him in the clear daylight of a beautiful afternoon, outside of the normalizing context of a genetics clinic.
My mind sorted through possible etiologies. A freebasing accident gone horrifically wrong? A congenital anomaly syndrome whose name was lost in the cobwebs of my brain? A developmental process gone awry? The product of a new teratogen? An extreme case of self-mutilating psychopathology?
My fellow commuters in waiting were either staring directly at him, or, like me, struggling to disguise our rudeness by trying to simultaneously gaze at and just past him. I rationalized my behavior by telling myself that I was doing what any reasonable geneticist would do – trying to fit him into a Dave Smith pigeonhole. But, truth be told, I was gawking at him.
Name That Syndrome. It is a game that geneticists often play when we have the opportunity to observe the parade of humanity in all of its terribly wonderful variety. That exotically gorgeous woman with the ice blue eyes and gray forelock sitting at the bar? I bet she has Waardenburg syndrome. That overly friendly young boy with the starburst iris trying to make friends with every angry airline passenger aggravated by the flight delay? Only a kid with Williams syndrome could have that much faith in the goodness of humanity. That overweight blind child with post axial polydactyly clinging to her bedraggled mother, the weary pair standing on a rush hour bus because nobody had the decency to offer them a seat? I hope her pediatrician had the savvy to diagnose Bardet-Biedl syndrome. And that guy waiting to board the plane who has wide-set eyes, a depressed nasal bridge, a smooth philtrum, and mild syndactyly – he must have something. I wonder if the airport’s facial recognition security software has Gorlin’s Syndromes of the Head and Neck programmed into it?
Context matters. Within the confines of the clinic, it is entirely appropriate for a genetic professional to intensely examine every square centimeter of a patient’s body. But once we step out of the front doors of our medical towers and into the streets, we lose the mantle of medical authority that grants us the social privilege of staring closely at other human beings to look for differences subtle and profound that stray from the norm (of course, variation is the norm).
Separation of personal and professional life is a complex, challenging, and ongoing process. We often have a hard time finding the Off button for our clinical instincts. Like clerics and cops, geneticists can feel like they are never off duty. I struggle with this nearly every day, dancing a tango where I am vying with myself for the lead.
I do my best to justify the social crassness of Name That Syndrome by re-framing it as clinical curiosity. But it’s not polite to stare; Mom is right once again. On the streets they are not clinical puzzles. They are people with beating hearts who are trying to scratch out a decent life in a hard world. They deserve respect and dignity, not freak stares. If we lose sight of this, we become poorer clinicians and lesser people.
The DNA Exchange 
I usually have no problem avoiding the thoughts about possible diagnoses for randomly encountered people but my non-genetics-associated friends and family sometimes will ask me, “what does that person have”? That is even more disconcerting, and I put my gc hat on and deflect the issue as best I can.
Bob, you may be interested in Rosemarie Garand-Thompson’s thoughts on the topic of staring. She has written a book on the topic and a related interview is at this link: http://www.emory.edu/EMORY_MAGAZINE/2009/autumn/staring.html
I have also definitely run into the situation of friends and family asking me “Does he/she have something?” Or “What do you think he/she has?” If people actually know about genetic counseling and that I might have some idea of what syndrome someone may have, they’ll ask me. It can be difficult sometimes to figure out how to respond because I don’t like to keep drawing attention to that person, but I admit often I’m just as curious.
I’ve also had friends say things before like, “I saw a person who was really short, but he was disproportionate and had short arms.” They say these things because it is a strange sight to them, and it took them by surprise, or in one case because it made her uncomfortable. I had actually pointed out that the person probably had a genetic condition, and then she felt, I think, a little guilty for having the reaction she did. Obviously it wasn’t my intent to make her feel guilty, but that was her knee-jerk reaction, anyway. In any case, in some ways, one simple comment from someone in our position may help educate. But indeed, it is a fine balance between trying to remember that those a just people like any of us trying to go about their day, and we are not in clinic 24 hours a day to “diagnose” everyone!
One of the interesting things about this discussion…is that it is even a discussion. It is the lacy petticoats of our counseling that is peeking out from the hem of a crisp formal genetic jacket . We were trained not just to look at people, evaluate their symptoms, diagnose their conditions, but also to talk to them, listen to them, empathize with them. In doing so, we see them not just as medical curiosities, but as people. A friend and fellow genetic counselor would get calls from time to time from those “medical mystery” shows, fishing for an interesting story to fill their time slot. She would always refuse. Yes, there were a lot of great stories that would make great television. However, she was unwilling to allow her patients to be treated like sideshow freaks. They already felt freaky. When we stare and diagnose from afar, we are reducing these individuals to just that, a visual pleasure puzzle for our enjoyment. Now having stood in the pulpit and gazing down on the sinners, I realize I too have participated in eating of the forbidden fruit. It is too tempting, too delicious, and too easy at times. You just want to lean over and whisper, “Have you ever seen someone in genetics?”