The body and the ways it can go off-kilter never ceases to amaze me.
Prader-Willi Syndrome was something that I had never heard of until I encountered it a few weeks ago. It's a chromosomal disorder--not inherited but the result of a genetic mutation that occurs around the time of conception for reasons yet unknown. The defects occur on chromosome 15--the one contributed by the father. (Guys, it's all your fault.) Most of the time with PWS, there are some critical genes that aren't contributed, but sometimes the entire paternal chromosome is missing. That medical research is able to determine this much I find fascinating.
Symptoms include the following:
low muscle tone
incomplete sexual development (hypogonadism if you must have the medical jargon), obsessions and compulsions
and the one I find most intriguing: preoccupation with food.
Seriously.
People with this disorder have absolutely no internal mechanism for registering when they're full. As a result, they are constantly eating or in search of food, have insatiable appetites and are therefore at a high risk for morbid obesity. Researchers can't explain why this particular symptom exists, other than to speculate that because there are defects on chromosome 15, the hypothalamus is affected. And because the hypothalamus regulates many basic functions including appetite, speculation is that hypothalamus damage is the culprit. But they don't know for certain.
And apparently the food thing is a real problem. Because those with PWS have such low muscle tone and burn energy at a much slower rate, they require only 60% of calories that "normal" adults require. This translates to anywhere from 800 to 1200 calories a day according to this site. This documentary on Youtube, filmed in the UK, follows a couple of people with the disorder (It's pretty good but has a bit of a Jerry Springer feel to it). Their strict regimen calls for 1500 calories a day, which seems a bit more reasonable. But only a bit. Especially when you realize that when researchers did a starvation study in the mid 1940's with conscientious objectors to the war, during the six month semi-starvation period the 36 men in the study were given "only" 1800 calories a day.
Think about that: 1800 calories. Common knowledge these days tells us that on a day-to-day basis, people shouldn't eat any more than 2000 calories. And people on "diets" are often limited to 1000 to 1200 calories.
I digress.
Back to Prader-Willi and the food thing.
I saw a woman in the hospital who absolutely insisted she was going to kill herself if she went back home. Oh, did she go on and on and ON about how she just couldn't take it anymore! Two of her guardians were with her and gave me a quickie lesson on PWS as I was absolutely ignorant of it before that moment. The family opined the only reason Ms. PWS wanted to go into the hospital was so she could eat. They also reasonably suggested Ms. PWS has so little control in her life that when she is at the hospital it probably feels like a vacation.
I was amazed when I heard the lengths to which this woman would go to get food. With past hospital admissions, she would naturally not tell anyone of her condition. Therefore doctors and other staff would remain ignorant about it for several hours, sometimes a day or two. Ms. PWS would immediately ask for food upon her arrival. And then more. And of course she would eat everything on her plate. She's been known to order food for other patients and then steal it. She's been known to rummage through the trash. Pick food up off the ground. Pilfer through other patient's rooms. Wander down to the cafeteria to see what she could score there. Food is apparently all she thinks about.
At home, her food is literally under lock and key. She lives in a 24 hour supervised environment. And she is allowed only 800 calories a day.
I think I would threaten to kill myself too if that's all I could eat. After I chewed my fingers to nubs, that is.
Eight hundred calories. Her guardians insisted this was all she needed, that she would weigh 200 pounds (!) if they weren't careful with her--that the extra pounds would literally kill her because she was so fragile. I've been clicking around for a while now, and I can't find any literature that says people with PWS are more susceptible to obesity correlated illnesses than the population at large. I suspect they might have been a bit hysterical on this last point but I could be wrong.
All I know is 800 calories is nothing. Especially for an adult with a documented chromosomal disorder of which one of the most persistent symptoms is food preoccupation. Professionals who work with her--and she has a village of them, rest assured--insist this is all she needs. Who am I to question their treatment plan when I don't know a thing about the disorder?
Just some social worker who really likes her chocolate. And is totally OK with eating it 800 calories at a time. ->
Read the complete post at http://feeds.feedburner.com/~r/blogspot/tXCM/~3/435667550/prader-willi-syndrome-pws.html
Posted
29 Oct 2008 10:00 AM
by
Trench Warfare
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