Disorders You Should Know: Progeria
- from Ashley M
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- Delaware Valley High School
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- 1276 views
Progeria, a relatively unheard of disease, affects one in every one to two million births and has an expected count of 250 people effected world wide. Although it has various forms, the most devastating is Hutchinson-Gilford Progeria Syndrome, which is accelerated aging starting within the first two years of life. The disease is usually detected in the first months or years of life due to the slow physical growth. While mental abilities are intact, those effected by this disease are usually smaller in size, have relatively large heads, prominent eyes, hair loss, visible veins, and wrinkly skin.
Scientifically speaking, Progeria is a random mutation caused by a mutation in the LMNA gene. This gene produces a protein called Lamin-A, which when defective, causes cell nuclei to be unstable. These defective nuclei result in advanced aging and a multitude of medical issues. These issues include loss of fat and muscle mass, bone abnormalities, tooth decay, tightening of skin and joints, and heart disease. Because of these issues, the life expectancy of those inflicted with this disease is only 13 years old.
Progeria is currently incurable, but efforts are being made to help treat this disorder. The first clinical trial for Progeria medication is underway and so far, the results are promising. Originally used as a cancer treatment, Lonafarnib is being administered to sufferers of Progeria in order to help them gain weight, improve hearing, increase the flexibility of blood vessels, and/or improve bone structure. While not a permanent solution, it is an important step in recognizing the necessity of working toward a treatment to this fatal disorder.
Sam Berns, a now-deceased 17 year old with Progeria, explains what life is truly like for him in a film called "Life According to Sam". This film outlines his hopes, dreams, and struggles as someone inflicted with this disorder. Like many others, Sam was focused on not letting his disorder hold him back and said, "And as I am striving to change the world, I am happy". Contributions to the fight for a treatment for Progeria can be made to The Progeria Research Foundation.