An attaboy !

I practiced with an excellent vascular surgeon who grew up on a ranch near Kirby, Montana.  His language was fairly salty.  His results were very, very good, but not perfect (no surgeon’s are). He used to say that you needed 10 Attaboy’s for every Oh shit.

Even though it’s been ten and a half years since I saw patients, I had an attaboy the other day.

Last fall, the guy who works on our roof told me of a terrible tragedy that happened in his kid’s school (probably because he knew I’d been a neurologist).  A 15 year-old boy, previously in excellent health collapsed while playing basketball, had a seizure and died.  There was no previous history of epilepsy in the boy or his family.

Epilepsy just doesn’t act like that.  People can die from an epileptic seizure if their airway becomes obstructed in the deep obtundation following a generalized seizure, or if they have serious pre-existing medical conditions.  There is also something called SUDEP (Sudden Unexplained Death in EPileptics).  I saw just 1 possible case in 36 years in neurology.  SUDEP occurs in people with epilepsy of fairly long standing (well, over 2 years anyway).

This unfortunate young man simply had to have had a cardiac arrhythmia, due to an abnormal ion channel in his heart’s conduction system.  More importantly, this is a hereditary disorder.  I told the roofer I’d be glad to talk to the family about this after the funeral, and that they all needed to be checked with electrocardiograms (EKGs).  He said, he’d talk to them.  I heard nothing until yesterday, when he came out to assess the winter’s wreckage.  He had talked to the family, and they were checked out, and that a totally asymptomatic mother and sister did have a cardiac conduction abnormality (easily diagnosable by the EKG).  The EKG shows a prolonged QT interval (a technical term but easy to spot — so easy that computers analyzing EKG routinely calculate the value of the QT interval).

We know a lot more about it now.  The following is pretty technical but should get you started. [ Proc. Natl. Acad. Sci. vol. 105 pp. 9355 – 9360 ’08 ] There are now 11 genes known to be associated with the prolonged QT syndrome — they account for 75 – 80% of cases. 5/11 are for cardiac ion channels (KCNQ1, KCNH2, SCN5A, KCNJ2 and CACBA1C.  6/11 code for ion channel subunits (what’s the difference?) or channel interacting proteins — ANKB, KCNE1, KCNE2, CAV3, SCN4B, AKAP9

The 3 most common are KCNQ1 (LQT1), KCNH2 (LQT2) and SCN5A (LQT3) account for 75% of patients.

So I probably saved two lives (because treatment should prevent the arrhythmias from happening). Definitely an attaboy.   You simply can’t buy a feeling like this with money.  It’s why I left chemistry to go back to medicine (and why a lot of people go into medicine or nursing).  The intellectual satisfaction from understanding a Woodward synthesis, or the intricacies of quantum mechanics, or Galois theory is great, but it simply can’t compare to this.  Also such intellectual satisfaction is really all about you and your brain. What’s the point in having one if you can’t do something useful for someone else with it?

One medical school classmate is a Nobel laureate.  His work led to the statins, and has prolonged and saved probably a million lives at this point.  I wonder if he got an emotional kick from that, higher than what I got yesterday, from two people I’ve never even met.

Advertisements
Post a comment or leave a trackback: Trackback URL.

Comments

  • Curious Wavefunction  On April 14, 2011 at 2:13 pm

    Attaboy! I can only imagine the feeling you must have; the family must indeed be indebted to you. As you know, there are several drugs which can induce QT prolongation by blocking the HERG potassium ion channel. Some drugs were withdrawn from the market after they caused deaths from this effect. These days, testing of drugs against the HERG channel is a standard screening protocol in drug discovery and development. The presence of a basic nitrogen in the molecule is thought to be a necessary (but not sufficient) condition to cause QT syndrome.

  • Paul  On April 15, 2011 at 9:38 am

    Very nice work.

    Medicine is definitely gratifying in the sense that you can be 100% assured that you are going to save and improve lives. With chemistry, I feel like I have the chance to improve the lives of (several orders of magnitude) more people, but that my chances of doing so are relatively small. I am happy to roll the dice with chemistry (over medicine) because I think I make a better chemist than doctor.

  • luysii  On April 15, 2011 at 2:43 pm

    Sadly, the excellent surgeon passed away aged 75 last year. RIP Elmer.

    Even though he did a great job cleaning out carotid arteries to prevent stroke, as one of my cardiologist friends said back then — “we’re just treating the symptoms, the underlying disease (e.g. atherosclerosis) still marches along”. That was over 25 years ago, and hopefully the statins have at least slowed the march to some extent.

    There’s far more to be done. This is where drug development (and chemists) come in. Surgery has no effect on the march, but he sure did a lot for my patients.

  • Curious Wavefunction  On April 15, 2011 at 3:27 pm

    My PhD advisor discovered a best-selling AIDS drug that’s taken by 95% of all HIV positive patients in the country. Recently it was also shown to be effective in AIDS prevention. The drug made him a multimillionaire and I know for a fact that he gets enormous satisfaction from contributing to millions of saved lives, but his case is an exceptionally rare one that involves being in the right place at the right time, not to mention a vigorous dose of luck. At some point unlike him though, the only way we are going to stick with science is if we enjoy the process. This is going to be even more of a case with the increasingly dire funding scenario. If we don’t enjoy the journey, the destination won’t matter.

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s

%d bloggers like this: