Hutchinson-Gilford Progeria syndrome is an extremely rare condition in which some aspects of aging are greatly accelerated, and few affected children live past age 13. About 1 in 8 million babies are born with this condition. It is a genetic condition, but occurs sporadically and is not inherited in families.
Scientists are particularly interested in progeria because it reveals clues about the normal process of aging. Approximately 100 cases have been formally identified in medical history and the odds of being diagnosed with it are roughly one in 8 million.
Zach Pickard, son of Tina Pickard and Brandon Pickard was 2 months old when he was diagnosed with unexplained skin bumps. The first physician suggested Zach to be tested for Progeria. Like most physicians.
Exactly six weeks later, Zach was diagnosed with Progeria. Currently he is young enough to show many physical symptoms. Soon he will have recognizable traits of Progeria will: limited growth resulting in a short stature, hair loss, a small face, thin skin and a loss of body fat.
The family is trying to raise money and awareness of the rare disease that afflicts Zach.
In 2000, researchers discovered that the disease is caused by a mutation in the gene called LMNA, which makes the Lamin A protein. The defective Lamin A protein renders the nucleus of a cell unstable and that cellular instability appears to lead to the process of premature aging.
One study from the Netherlands has shown an incidence of 1 in 4 million. Approximately 100 cases have been formally identified in medical history. Currently, there are an unknown number of cases in the world.
Progeria is so rare that there is only one family in the whole world that has more than one child with the disease. An Indian family, living in India have five Progeria children, two of which are now deceased.
Amazingly, their eldest Progeria daughter is 19, and their eldest Progeria son is 17, both who have lived past the average lifespan for a progeria child. Their other living progeria child (son) is 7.
The earliest symptoms include failure to thrive (FTT) and a localized scleroderma-like skin condition. As the child ages past infancy, additional conditions become apparent. Limited growth, alopecia, and a distinctive appearance with small face and jaw and pinched nose all are characteristic of progeria. Later the condition causes wrinkled skin, atherosclerosis and cardiovascular problems.
Mental development is not affected. Individuals with the condition rarely live more than 16 years; the longest recorded life-span was 29 years. The development of symptoms is comparable to aging at a rate six to eight times faster than normal, although certain age-related conditions do not occur. Specifically, victims show no neurodegeneration or cancer predisposition. The people diagnosed with this disease usually have fragile bodies like those of elderly people.
