Progeria

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 reconstruction of collagen and extra cellular matrix (Manrai 2). It is still unclear where Progeria comes from. Some researchers think an autosomal recessive transmission while others think the mode of inheritance is autosomal dominant mutation. Though those ideas are in place regarding where Progeria came from it is still undecided how Progeria is inherited. It is difficult for researchers to confirm the mode of genetic transmission because Progeria patients do not reproduce Livnech 1). There is evidence that shows the gene for Progeria may be on chromosome 1. It is believed that gene is passed on in autosomal dominant inheritance. Autosomal dominant inheritance means that either affected parent has a 50% chance of passing it on. The occurrence of Progeria is sporadic and rare. Studies show frequency may be related to a high difference in the age of parents. There have been 100 cases reported where that is the case (Progeria 1). There is a 1/5:1 male to female ratio when it comes to the statistics of those with Progeria (Livnech 2). It is not believed to run in families. Researchers believe that the disorder stems from a chance anomaly in the sperm or egg before conception (Haran 1). When a child has Progeria the parents and physicians are unaware until the child is 1 1/2 - 2 years of age. This disorder is progressive, signs show up over time (Manrai 1).

There are many distinct physical features of a child with Progeria. 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 aspects of life.

There are many psychological issues that occur than effect a Progeria child in their daily lives. 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 be very stubborn, which is a typical trait of Progeria patients. Though daily activities may be tough Jason doesn't let it get to him. Jason is still determined, despite his disabilities to get a driver's license and own a Porsche when he turns 16 (Mason 2). It is very important for a child with Progeria to be able to socialize with other children. Interacting with other children is a way for them to feel acceptance and that they are a child too. Progeria children need to develop themselves and express their thoughts and feelings in an uninhibited