All Geneticists are from Missouri

Jimmy Jones is fidgeting in his chair. The cruel geneticist, who would be me, seems to be patient, listening carefully to his mom tell the story of his admission to the BMC (Big Medical Center) where the ER docs sent him upstairs for an overnight look-see after another one of the seizures had lasted just too long.

“Yes, and then what happened?” I ask.

Mrs. Jones was ready with the next chapter in the difficult saga. “Well, Jimmy was just so sleepy, and the neurologist set up a video EEG for the next day or two, and there it was, hippy rhythms!”

“Ah, hypsarrhythmia,” I declared.

“Yeah! I wondered when my hippie past would come back to haunt me,” added Mrs. J.

“Well, let me get you to sign a release so I can get the records from BMC. I want to look over the discharge summary and the neurologists notes, and maybe they did some genetic testing. What about an MRI, did they do that then too?”

And so the inquisition proceeds, and Jimmy is just a fidget spinner, bored beyond compassion, even for a 7 year old. Funny, though. Hypsarrhythmia is often associated with more serious developmental problems, and second-graders like Jimmy do not seem like such a good fit. I need to see the records, to see what really happened, what the EEG really showed, the neurological exam, the vital signs, the labs sent, the labs pending, the labs lost.

Why trouble with all that documentation, why fuss with knowing what “really” happened? Why don’t you have any trust?

Oh, I trust. I trust plenty. But I’m from Missouri.

Well, not really. Baltimore, I’m from Baltimore. Towson, actually. But I like to say that I’m from Missouri. I like the state motto.

Show Me.

Please take that short, blunt phrase to mean that I have great respect for you and your experiences and your soul. But … you gotta show me. I need to see the evidence. I just need to know for sure, because how I think, how we plan for testing or counseling or important advice depends on the utmost accuracy of the information. You – or someone who knows the truth – are going to have to show me the truth. I’m going to handle it. I got it. Got it?

It’s like when you are driving home from work and there’s a really catchy old tune from Hall and Oats, maybe Your Kiss is On My List, and you have a nice straightaway and then there are those blue flashing lights in your rearview and you hear a short little (polite but insistent) yawp from the police cruiser and you pull over, carefully, into the gravel. You roll down the window. The officer takes her time getting out of her Ford Crown Victoria Police Interceptor. You can hear the radio chatter. Obviously your plates are being run. Oh Fort Sam Houston did I pay that parking ticket? Was there two? And then she is at your door. You can see the sidearm, the badge.

“How are you, sir?”

You look up at the sign, conveniently 20 yards off the starboard bow. 35 MPH. OMG.

“Could I please see your drivers license and registration.”

“OK, Officer. Ummm. I … well … I have …. hmmmm. I thought I had it. It must have been in my other coat. Trust me, I have these things.”

Does this officer trust you in this situation? Absolutely. She believes you are a fine citizen whom she pulled over for a broken tail light! But she is, at this moment, from Missouri.

Show me.

You have a million bucks?      Show me.

You have a history of Smith-Magenis syndrome?      Show me.

Jimmy has hypsarrhythmia?

Show me.

With big ticket items in the genetics clinic,  “Show Me” is more rule than exception. When we are making big decisions based on untested facts (i.e. “assumptions”), we try our best to check those facts. Trust but verify.

Ronald Reagan often said “Trust but verify.” To Mikhail Gorbachev, that would be “Доверяй, но проверяй.” At the time, he was most interested in the Intermediate-Range Nuclear Forces Treaty of 1987. But he must have had some Missourian blood in him.

Jimmy Jones is fidgeting in his chair, and he’s going to have to fidget some more, because we have to send off for his records. In a few weeks they arrive by fax and surprise, hypsarrhythmia was ruled out. Ruled OUT!! Mom just didn’t hear that part. No, not a legacy of her hippie past. Just the fog of too many doctors and too many hospitals and too many big words that no one explains and the worry that descends like a fog in the war she fights to take care of that fidgety child. Nothing to forgive. We find a little more of the truth and move forward to fight the next battle. Besides, I have great fondness for hippies, present or past.

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