Neonatal Screening

In medical school, some MD, PhD with a German accent spent two days lecturing on “inborn errors of metabolism.” He told us stories about some obscure clinic at Harvard where he had worked and was able to tell us an interesting tidbit about each of these diseases. For example, with a thick accent, he would say, “These patients have the disteeenct odor of tomcat urine.” For another condition (G6PD deficiency) he said, “Be sure to tell your patients never to eat fava beans.” I did not have a clue as to what a damn fava bean was and don’t think I have ever smelled tomcat urine. And, in over 20 years of clinical practice, I don’t think I’ve ever seen a true “inborn error of metabolism.” Likewise, I don’t think I have ever seen a newborn screening panel for these metabolic diseases come back positive for anything but sickle cell trait (granted, in the emergency department we don’t see many newborn panels—but we serve as the “family physician” for every urban outdoorsman and welfare recipient in the community—so we must stay up on this crap).

But, one day not too long ago, this whole thing became crystal clear. I was in a hurry to catch a plane. As I was trying to work my way through the first class TSA screening point I was called on the carpet because something terribly suspicious had showed up in my carry-on bag. The young wanna’ be cop TSA agent said, “You did not take your computer out of your bag. You’ll have to go through the line again.” I said, “That’s not right. My computer is right here.” He said, “Well then, there is another computer in your bag.” For a minute I was puzzled. The, I remembered my camera. I said, “That must be my camera.” He said, “I’ve never seen a camera that looked like that before.” I told him that it was a very sophisticated professional camera and must look like a computer because of circuit boards.” He ignored me and called for a “manual bag check.” Some woman, who evidently was doing something important like eating her lunch or talking on her cell phone, came over pissed off with an attitude (of course, “pissed off with an attitude” describes every TSA agent I have ever met). She took my bag and went through it taking particular care to be as rough as possible with my camera. Finally, after 5 minutes of fumbling she said, “It’s just a camera.” At this time, I heard the gate agent calling for final boarding for my flight to New York. With camera and bag in hand I started to run for the gate. But, the supervisor stopped me. “Now what”, I thought. He said, “Sir! Sir!” I replied tersely, “What? What?” Then, came THE question. He looked me in the eyes and said, “Did anybody put anything into your bag without your knowledge.” I looked at him and blew a gasket. I said, “How in the HELL would I know if somebody put something in my bag without my knowledge. I don’t know about here, but where I come from the phrase ‘without my knowledge’ means I do not know. So, there is no way I can know whether anybody put something into my bag without my knowledge.” Without cracking a smile or missing a beat he again looked me in the eyes and said, “That’s why we ask.” I was dumbfounded…..speechless. Had my plane not been immediately leaving, I would have loved to discuss this with him more (and probably got on some terrorist list).

I detailed the above to say this. While sitting on the airplane steaming I had a moment of clarity—similar to what supposedly happens to alcoholics. The neonatal screening conundrum was now clear. Of course, these screens will identify people with phenylketonuria so that they have an excuse not to drink diet drinks. But, the most important use of the neonatal screen is to identify cretins early so they can begin training for a TSA job. There is certainly no other explanation for where these people come from. Now, I wish I had’ve paid more attention to that professor from Harvard.