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Brandon Mai

on 21 May 2014

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Transcript of Progeria

Life with Progeria
Life with Progeria is difficult because the carrier of the disease has to deal with not being able to eat things and watch carefully over themselves. While dealing with personal care, when it comes time for the outside world there will be plenty of stares and whispering because people don't normally see a child with Progeria. Clothing also becomes a problem because children with Progeria are petite so custom clothing and attendance is needed to make sure the sensitive skin is not irritated.
Effects From Progeria
How Is The Mutation Formed
The mutation of Progeria is formed from a corrupt gene called Lamin A (LMNA) which doesn't make a protein that holds the center of a cell (nucleus) together. When the Lamin A doesn't produce the protein to hold the center of the cell together, it makes the cell unstable leading to the effects of Progeria
Dr. Jonathan Hutchinson
Dr.Hastings Gilford
The two men that were credited with discovering Progeria were Dr. Jonathan Hutchinson in 1886 and Dr. Hastings Gilford in 1897 by both of them describing the symptoms, so the disease was named after these two English men in the late 1800s.
Types Of Progeria
There are two types of Progeria that are both far apart. The most classic or more know type of Progeria is called Hutchinson-Gilford Syndrome which begins the rapid aging around 6-12 months after birth. The second type of Progeria is called Werner Syndrome which has the rapid aging process beginning around the teenage years til the 30s-50s while, Hutchinson-Gilford Syndrome ends around the age 13.
What Is Progeria?
Progeria is a rare genetic disease that causes newborns in many cases to rapidly increase in age while, being in the body of a child. Having Progeria also increases the chances of heart disease and stroke. It also shortens the lifespan of the carrier of the disease.
By: Brandon Mai & Eugene Roy
05-08-14 Period 06
Harley And Justin
Fourteen years old
Six years old
Dry, scaly, thin skin
Growth failure during first year of life
Loss of eyebrows and eyelashes
Large head
Shrunken, wrinkled head
Hard time moving around
Open soft spot
Short height
The prognosis of having Progeria is people that have the disease live only a short life since the aging is so quick it deteriorates the body causing people to be more prone to heart disease and stroke. The lifespan of a human being that carries Progeria is a short life because they live up until the teenage years however in lucky cases the age has gotten up to the early twenties
Treatments For Progeria
Fact About Progeria
There technically isn't a cure for Progeria however, there is a medical treatment that can expand the lifespan of carriers of Progeria. One recently discovered treatment was originally developed for cancer but, turned out to be a great treatment to expand the life of people with Progeria by 1.6 years during the 6 years of treatment. The process involves a farnesyltransferase inhibitor that reverse the structure of abnormal cells that cause Progeria. Other than medicine there are no other ways to increase the lifespan of people with Progeria. There are therapies like physical therapy to help maintain the body in a good and active condition. Taking asprin is also recommended because it helps reduce cardiovascular and cerebrovascular atherosclerotic disease
Dr. Jonathan Hutchinson
Dr. Hastings Gilford

One of rarest genetic condition
Most live to teenage to twenties
First sign is scleroderma
Most will notice symptoms in second year of life
Around 80 discovered cases
Progeria is diagnosed by genetic test for LMNA mutations
38 countries found with child living with progeria
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