Progeria (also known as "Hutchinson–Gilford (Progeria) Syndrome", and "Progeria syndrome") is an extremely rare genetic disease wherein symptoms resembling aspects of aging are manifested at an early age.
Children with progeria usually develop the first symptoms during their first few months. The earliest symptoms may include failure to thrive and a localized scleroderma-like skin condition. As a child ages past infancy, additional conditions usually become apparent around 18–24 months. Limited growth, full-body alopecia, and a distinctive appearance (small face and shallow, recessed jaw, pinched nose) are all characteristics of progeria. Signs and symptoms of this progressive disease tend to get worse as the child ages. Later, the condition causes wrinkled skin, atherosclerosis, kidney failure, loss of eyesight, hair loss, and cardiovascular problems. Scleroderma, a hardening and tightening of the skin on trunk and extremities of the body, is prevalent. People diagnosed with this disorder usually have small, fragile bodies, like those of elderly people. The face is usually wrinkled, with a larger head in relation to the body, a narrow face and a beak nose. Prominent scalp veins are noticeable (made more obvious by alopecia), as well as prominent eyes. Musculoskeletal degeneration causes loss of body fat and muscle, stiff joints, hip dislocations, and other symptoms generally absent in the non-elderly population. Individuals do usually retain normal mental and motor development.
Barbara Walters, on 20/20 had a segment on Progeria on January 19, 2013. Information about that segment can be found here and the segment itself is here.
There is hope that research into the effects of aging on adults can help these children and vice versa.
There has also been recent success with a new drug - with every child in the trial seeing some sort of improvement. More information about the successful trial is here.
During our first trip to Children's Hospital in Boston, we met two children with this disease. While we don't remember their names and don't have any way of seeing how they are doing, we hope that in the 2+ years we have seen them, they continue to do well, and maybe even had the benefit of being in the trial.
The "cheat sheet" on Progeria from the National Library of Medicine is here.
Progeria is just one of 7,000 rare diseases, most without cures and very few treatments. Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.
Rare Disease Day is February 28, 2013.