- Effects of Autism on Families
- Putting Play In Therapy
- Imaginary Friends?
- Down Syndrome
- Alcohol and Pregnancy
by Mary Lobmeyer
Progeria is also known as the Hutchinson Gilford Syndrome. The first time this showed up was at England in 1886 discovered by Jonathan Hutchinson. A child who has progeria body will age eight to ten year for every year the child is alive. Progeria Syndrome is caused by a mutation in gene called LMNA. This gene produces Lamin A, protein which help the structural scaffolding that holds the nucleus cell together. When a defective Lamin A makes the nucleus unstable this seems to lead to the process of premature aging.
Progeria starts to show sign after 18-24 months other than that the child born looks really healthy. This syndrome is rare and can be fatal genetic condition known only in children. Progeria is a harsh condition because the symptoms the children have are: short in stature, low weight or loss of body fat, facial is smaller than the head, underdeveloped jaw, malformation, crowding teeth, abnormally prominent eyes, small “beak-like” nose, absent earlobes, tight, wrinkled skin, and voices are higher pitched than normal.
In the 1st of 2nd year s of life the children go through loss of scalp hair, eyebrows, and eyelashes, very prominent veins of the scalp, loss of layer of fat beneath the skin, skeletal and nail defects, joint stiffness and hip dislocation, and the child can suffer from a stroke, heart attack, chest pain, high blood pressure, non healing fractures, heart disease, and enlarge heart. Doctors predicted that a child with progeria will not make it past their thirteenth birthday.
There are about 1 in 48 million newborns that are diagnosed with progeria. Only a few people with progeria survive past the age of thirteen. These children’s bodies are so old making it easy to fracture. Barbara Walters did an interview with couple young children with progeria.
As Barbra Walters mentions in the interview and according to my research there is a trial drug program that some of the kids are taking. The progeria drug trial is where the children are taking pills that were originally designed for cancer. The pill is supposed to reverse the dramatic instability in their cells. As shown in the video Hayley say she thinks the trial is working. Some scientists say they don’t know how we age, but the progeria syndrome is teaching them right now. Collins believes that the thing stopping the kids from producing protein that makes their cells unable to divide is the same protein that is being produced by all of us. These might be the cause from preventing humans from being immortal. As of right now in the trial there has been no proven fact that is working right now.
[((bibcite www.homepages.dsu.edu/…/definitions/Hutchinson-Gilford%20Progeria%20Syndrome.ppt ))]