Progeri Hutchinson-Gilford Syndrome

Progeria, the premature fatal aging disorder in children, may be able to be reversed through Farnesyltransferase inhibitors (FTI) treatments. Formally known as Hutchinson - Gilford syndrome, Progeria is a genetic disorder that affects 1 in every 8 million babies born. The disorder is known for its unusual appearance of premature aging in children. Progeria was first discovered when it showed up in a child in 1886 by Dr. Hutchinson. The second case was later discovered by Gilford a year later. In 1889 Badame named the disorder Progeria, derived from a Greek word meaning "old age" (Livneh 1). The suspected cause of Progeria is a mutation in Lamin A/C gene that leads to abnormality in control of the cell division and in the formation and
Progeria patients tend to be no taller than 3.7 feet or weigh more than 40 lbs. Their skin has the appearance of an old person being thin, dry and wrinkled. The skin on the hands and the feet often it pushed inwards and has pigment changes of a yellowish-brown. There is also less fat under a Progeria patients' skin than there would be in someone without the disorder. Their fingernails are small as well as thin and poorly developed. When it comes to the hair of a Progeria child they do experience hair loss much like an elderly person on their scalp, eyebrows, and eyelashes. As the children lose their hair their veins in their scalp become more obvious and visible. Prominent eyes are not uncommon for Progeria patients. It is often found that children with Progeria experience farsightedness as well as have astigmatism. These issues make it difficult for the children to focus on incoming images. The effects of Progeria aren't always visual. These patients often have poor appetites. They often take nutritional supplements such as Pediasure that can help the child get the nutrition they need. Pediasure and similar supplements improve the energy levels of Progeria patients. The child's skin, hair, and teeth are also improved when taking these supplements. Though Progeria affects the child immensely with the physical and health related issues, Progeria also affects the child psychologically in many
Patients with Progeria typically have average intelligence and their cognitive abilities are not usually affected (Progeria 1). When researchers look at the ways patients are effected, other than physical changes the most frequently explored area is the effects the death possibility of their child effect s the parents. There are many emotional and existential spiritual reactions (Hanoch 437). Progeria patients deal with the daily struggle of staying strong even when the rest of the world is unfriendly. Others tend to make fun of some Progeria patients calling them names such as Alien, Martian, or Skinhead. Jason, a 15 year old Progeria patient says he usually outsmarts those mean people by coming up with something smart as a reply. Jason once had a store manager look at him, call him a monster and ask him when he was going to die. Jason replied asking when the manager was going to die. Jason's mother reported that it took her a long time and a lot of prayer to make her not feel guilty and realize that his Progeria was not a result of anything she did or did not do while pregnant with Jason. Jason told his mother once, "Mom, I'm not going to have kids or a family. I'm not going to ever have a woman who loves just me." That comment was very hard for her to handle. So he doesn't seem so singled out Jason uses a regular sized desk at school. His counselor said he can