Prader-willi+syndrome

Prader-willi syndrome Stacey Armstrong  toc

Introduction
You've just finished eating 5 slices of pizza, 8 donuts, drank a whole liter and a half of coke, and now someone wants to go out for BigMacs. This day feels like heaven for you, and you happily accept the invitation. The day is going great. Until someone takes your seat in the restaruant, and refuses to give it up. How dare they! Don't they know that it is //your// seat?? How anyone could be so mean baffles you. You decide to take your BigMac and fries (and order some more for the road) and take a bus home. Before walking insdie your house, you decide that the BigMacs weren't enough to comfort your andgry feelings toward the pompous jerk that stole your seat, and you quickly grab some sugary snacks from the store next door, without paying.

You've just lived a typical life as a victom of Prader-willi syndrom. How does it feel?

Prader-willi syndrome is a genetic disease that prevents its victims from ever feeling full, and to remain in a constant state of hunger. People with this disease are obese, often will sub-levels of mental ability and muscle tone, with genitals that produce little to no hormones.

Babies born with Prader-willi syndrome are often weak and "floppy", both physically and vocally. They have difficulty sucking or swallowing, and therefore do not gain weight easily, and remain generally smaller than most babies their same age. In teen and adult years, the main side-effect is obesity, and therefore a threat of death. For some victims, if they are not watched while eating, they could feed themselves to death. They also have a slight mental retardation and somewhat crossed-eyes.

How It Happens
This genetic mutation is mainly present because of a deletion in the gene sequence. However, this deletion is quite severe, deleting a whole section of the 15th chromosome given by the father (7 genes, to be exact). However if this were the only mutation, the person would most likely die, not having sufficient chromosomes. Luckily in this case, the chromosome given by the mother gives an extra copy, allowing the person to live, but with genitals because the mother's chromosomes lack the active genes necessary for normal development.



Limitations
This disease occurs randomly in families, and cannot be predicted or fully prevented. Indirect effects include diabetes, right sided heart failure, and orthopedic problems. There is no complete treatment, because the disease has many side-effects.

Recipients of this mutation must be watched and cared for at all times, both for their compulsion to eat and because of their mild retardation that causes social awkwardness.

Benefits
Luckily, this disease can be identified at birth, and then the infants can be given a feeding tube to help gain weight. Later in life, they can be provided with hormonal supplements to help their bodies follow the natural cycle, and can be trained early how to eat to prevent obesity. With new technology testing of fetuses has been in use, identifying over 97% of patients, which then can be helped more so than those who find out later in life.

A Social and Economical Issue
Persons living with the Prader-willi system have lowered levels of emotional and mental processing (much like that of a little child) and as such are on a "different level" of the social world. Some are very stubborn and can throw temper tantrums, and many fall in and out of frenzied love very quickly. Shockingly, some even steal food to satisfy their addiction and are repeatedly warned or arrested. But who can blame them? Their thought processes are not always logical, and their desires are so strong. What can soceity do to accomodate someone so different?

Fortunately, there are small "communities" of people living with Prader-willi syndrome, where patients of any age can go and are carefully dieted, exercised, and disciplined, aiming to work towards and independence that can exist without harming themselves or others. These houses are effective, but expensive. Families that send their child will pay for room and board, as well as 3 healthy meals and 7 drinks a day. Some patients remain there for 3 years or more, where they can work to exist with similar members of society and strict discipline. For the parents, it might be hard to let their child leave, but it can greatly help their child and the surrounding community, as they learn to coexist with each other.

See For Yourself
Below are parts 2 and 3 of 5 about a real life man and women learning to live with Prader-willi syndrome in a home that will help them do so.

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Works Cited
 * 1) “Genetics- Chromosome 15.” //Prader-Willi Syndrome Association//. N.p., n.d. Web. 13 Mar. 2012. 
 * 2) “Prader-Willi Syndrome.” //Wikipedia//. N.p., n.d. Web. 9 Mar. 2012. .
 * 3) “Praxer-Willi Syndrome.” //PudMed Health// . N.p., 1 May 2011. Web. 8 Mar. 2012. .
 * 4) “What is Prader-Willi Syndrome?” //Prader-Willi Syndrome Association// . N.p., n.d. Web. 9 Mar. 2012. .