First really depressing case/zebra

With the recent happenings in the Medical Blogosphere, I'm hesitant to post this. I've tried to keep things as anonymous and HIPPA-compliant as possible, to keep my ass out of hot water.

I was at my preceptor's office the other day, and she pulls me aside as soon as I walk in the door and tells me that she has an extremely interesting case for me. 6 m.o. boy with Osteogenesis Imperfecta II or III (preceptor wasn't sure).

Immediately, my brain flashes back to our biochem lecture on collagen formation that casually mentioned failure to thrive and fragile bones and all the clinical afterthoughts they throw into the pre-clinical years to remind you that you're actually in medical school. So, I thought I had a pretty good idea of what to expect: tiny baby that has fragile bones, history of multiple fractures, malformed limbs...check. Cool and composed, yet empathic and interested clinical face...check. Name tag clearly identifying me as medical student...check.

I have never seen such a pitiful little creature as this. His limbs were pathetically undersized for his trunk and so malformed that that he couldn't even extend his hands. Both feet were completely plantar-flexed at the end of his bowed little legs. His fingers were maybe 3 mm wide and looked as if even the meager pressure he could apply while sucking on them would pull them right off of his hand. His head was far too big for the thin little neck that it sat on. He barely looked human...except for his eyes. The huge brown globes kept darting around the room, from face to face, fixing on anything that moved. His bony little chest and slightly distended belly, heaved with exertion around 100 times/min as he gasped for air. Failure to thrive does not describe this poor creature...barely over 6 and a half pounds of humanity, trapped in a fragile and helpless little body. His struggle for breath was over-coming his ability to take in food, leaving his growth chart absolutely horizontal. And aside from all of that were severe legal, financial, and social complications in the family that would absolutely rend your heart if I wouldn't identify the patient with them. (I won't post them here since they were in the newspaper). My preceptor ended up sending the family over to the local ED. We spent the rest of the afternoon in a daze over the patient, depressed about how sad the situation is, about how hopeless and futile this child's struggle would be.

The whole encounter brought together a lot of feelings for me, about how lucky I was to have loving and responsible parents. About how we're born into whatever situation God hands us. About how medicine is powerless in the face of some diseases and ultimately death. Finally, about how our individual choices that a parent makes can absolutely tear a family apart and destroy the lives of his/her children.

I'll end by saying that even though most people have the ability to reproduce, doesn't mean that they should, especially if they can't handle the responsibility or pay for it.


The Lone Coyote said...

That's a really sad case. I still have yet to see a baby who really has OI. On my Peds rotations we did several rule out OI work-ups and it always turned out to be child abuse, as suspected. It's just really sad.

Noel Hastings said...

This really seems to illustrate the difference between the books and the real world. Many people think medicine is about fixing broken things. Sometimes it is simply about being a witness with enough knowledge to understand and intention to help even if it means not fixing.

Bostonian in NY said...

OI is one of those once or twice in a career syndromes that gets thrown around pretty often in ddx's in peds, so it was cool to see in that respect. But, it's a poor little human life that is probably going to go out before it had a chance to really get started. It hammered home the differences between the science medicine and art of healing.

I wish I could share the family's background story, because that was the part that really made it a tragedy.