Monday, June 11, 2007

Working

Well, I'm back on a ward month and switched some calls around so I feel like i've hardly been home or had time to sit in front of a computer! Whew, it's exhausting at times. I still havn't uploaded any of my recent pictures but will hopefully get to it soon. I'm thinking this coming weekend since I actually have it off.

On to other stuff ... this will probably make sense to my more medical friends but I'm on a month right now where we take care of developmentally disabled kids. Many of you know my interest in Genetics and Genetic syndromes, so you can imagine how crazy it was when earlier this week, I actually was taking care of (all in one day, no less) patients with Cri du Chat, Prader-Willi and Lesch-Nyhan!! For my non medical readers, these are all rarer syndromes that you merely read about in med school and I saw them all in one day! I thought that was pretty cool. Yes, I'm a dork.

For those who don't know, Lesch-Nyhan disease is a really fascinating disorder where there is a build up of a certain chemical (uric acid) because your the body lacks the enzyme to prevent it's precursers. What's so fascinating about it is that children with this disease exhibit self-mutilating behaviors where they bite off their lips and fingers so much so that they often have to be restrained or have their teeth removed. It's horrifying but at the same time fascinating because it is this direct interface between a chemical imbalance and a behavior unlike almost any other disease. I'm glad I've had the experience to take care of a patient with it because it's something I know I'll never forget.

3 comments:

Cari said...

Holy crap, Nomers!!! That is just crazy. I bet people (pediatricians) wait their whole lives just to see one of these, let alone 3 in one day. I'm sure that just made your little genetics-loving brain go into a tizzy. Can't wait to see your pics, and hopefully you'll get your album by Thursday or Friday. Yippee...

Anonymous said...

Pictures, Naomi, we need pictures!

Mom

Anonymous said...

The behavior clinics here at Iowa, that you know I work, in has helped a few of the Lesch-Nyhan kids over the years with their SIB. I'm happy for you that you got to help one.