Monday, October 20, 2008

Prader Willi Syndrome

Mission completed! I got through my presentation better than I expected. I'm always deathly nervous about presentations before a large bunch of people and I told some friends not to stare directly at me. One guy said he'd make funny faces and another nodded and told me he'd sit in the front row then and glare at me without blinking so I made some weird, hopefully intimidating face at them and then clutched my pages feverishly while I staggered off to the back row to wait my turn.

I had prepared a bunch of notes, but it turned out, once I got up there, my mouth went on automatic and I didn't need to refer to my papers after all. Plus, my professor's clicker is really cool - flips through slides and it comes with a laser light too. Whoa, be mesmerized.

It took forever for my nerves to settle though because my group was the last one of the day and we had to sit and wait through the others, pretending to jot notes and be all attentive to what they were saying.

But it's all over now!

I just need to get through two papers and another upcoming exam now ...

While I'm here though, allow me to list some general aspects of Prader Willi Syndrome just to enhance your erudition. (Hey, not everything can be about awesome, hot guys and romantic antics. Unfortunately.)

Prader Willi Syndrome (PWS) is a genetic disorder on chromosome 15 and its main characteristics are hypotonia (low muscle tone), hyperphagia (abnormally increased appetite), and hypogonadism (defective sexual reproductive organs), etc.

PWS patients have characteristic features including small hands and feet, short stature, almond shaped eyes with a triangular shaped mouth and a thin upper lip. What's most interesting about PWS patients is that they're overwhelmed with a need to eat and can never satisfy their appetite. They're typically really friendly people, but they may resort to all types of food-seeking behavior, including foraging, hoarding and stealing. Think you have it bad when your kid steals from a cookie jar? Families with PWS members must keep food locked away safely and keep fridges bolted because PWS patients are unable to prevent themselves from raiding the cabinets for any sort of food.

This leads to morbid obesity and can, in turn, cause complications such as diabetes and heart problems. There are general treatments for these patients, including a special group home geared for PWS, but as of yet, there's no real cure for the disorder.

Not to be biased, but I think I had one of the more interesting diseases of the day. :) The class seemed more inspired to ask questions about its aspects anyway.

That, or my group just got them incredibly confused.

For more information about Prader Willi Syndrome, this is the association's site: http://www.pwsausa.org/index.html.

1 comment:

  1. yeah. i've watched a CSI episode that features the syndrome. the person died because the the stomach was stretched beyond its usual capacity, compressing the lungs in turn. i was trying to eat my lunch while watching the part where they removed the stomach contents. absolutely revolting.:P

    -soaps'nsuds

    p.s. thank you for the update.:) it's my first time to visit your blog. i was attracted by the character pictures.:)

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