Hutchinson-Gilford Progeria syndrome, also known as progeria, it is defined by the Encyclopedia of Genetic Disorders and Birth Defects as a rare genetic disorder resulting in premature aging. The April 2003 issue of Science News magazine reports that this disease affects an estimated one in 4 million children. Richard Jerome reported to People Weekly that most Progeria victims die of heart disease, stroke, or heart attack by their early teens. It’s a very difficult disease to get a handle on because there are no more than 100 incidents in this century reported. So if so few cases are reported, how can we delve deeper into understanding this condition? Well, first we need to look at the history of progeria and its causes, its effects and symptoms on the body, and finally what can be done about it.
Progeria was first described independently by English surgeons Jonathan Hutchinson and Hastings Gilford in 1886. In 1904, Gilford coined the term progeria, which in Greek means “prematurely old.” According to the Hutchinson-Gilford Progeria Network, there are currently between 30-40 known cases worldwide of Progeria. Children with this disease are usually diagnosed 6 months to a year after birth as their physical development starts to lag. Progeria results in rapid aging of a child, beginning with growth failure in the first couple years of life. This results in a disproportionately small body given the size of the head. The May 2003 issue of Pediatric News reports that the proteins in the gene are the structural scaffolding that hold the nucleus together. Also stated, the mutation in the lamin A gene causes the lamin A protein to become unstable, thus producing a rapid aging effect.
The effects of progeria are both physically and emotionally taxing. Physically, the disease causes baldness, small face and jaw, delayed tooth formation and aged looking skin. There is also a loss of eyebrows and hair, and they have limited range of motion. Intelligence is normal or even above average for these children, but sexual maturation does not occur. As these children age, hip dislocations and cardiac problems are frequent. Over 80% of deaths in progeria victims are due to heart attacks or congestive heart failure. At 10 years old, most affected children have the height of a 3 year old. While the average life span is 12-14 years, some exceed this standard, but the older and more aware of their disease they get, the more emotionally difficult it is for them to comprehend. In an October issue of Life magazine, Jan Mason quotes Jason Ellison, a 15 year old victim of progeria who wrote this in a school essay, “When I look in the mirror, I see a person like no other person around me. I see someone who is bald, no front teeth, no eyebrows, no eyelashes, and pointed ears. I want people to look at me and see past my looks and see who I really am. Not a freak but a wonderful human being who loves life and his fellow man. Although my looks are so different, I did not choose to look the way I do or to have a life that could be over tomorrow. I am just here to love life.” At 15, he’d already beaten the odds with an optimistic outlook.
While this disease is heart breaking for both victim and observer, there are many actions being done to promote awareness and hopefully one day a cure. Although there is currently no known cure, progeria may be reversible in the future, according to scientists at UCLA. The 2006 issue of Chemistry and Industry reports that they found that farnesyltransferase inhibitors (FTIs), which are used to treat cancer, can lessen the severity of the symptoms of the disease. Children with the condition have cells with deformed nuclei, and test mice show that treatment with the drug resulted in a higher proportion normally shaped nuclei, which lead to a decrease in the severity of symptoms and an increase in bone density.
Until that fateful day comes when the drug can be used by the public, victims like Jason Ellison can find hope in support groups and foundations that are spreading the word. The Progeria Project Foundation assists the families of Progeria victims in their emotional, spiritual, and financial needs as well as supporting them with medical bills and equipment. The Sunshine Foundation which grants children with a chronic illness a wish sponsored a gathering in 1982 of all known children suffering from progeria. Since then, it has become an annual event, giving these children a week to enjoy the company of someone just like themselves. This not only gives them tons of fun, but it also gives them strength and hope and a sense of anticipation in looking forward to the next year.
As we have learned, Progeria, while incredibly rare and relatively unheard of, is a serious condition that affects the livelihood of innocent children, their families, and those who have researched this unfortunate disease. But thanks to modern medicine and support groups, children like Jason Ellison can play together and one day not only be young at heart, but young at body as well.
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