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
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 way. These children have the same needs as ordinary children. Progeria children have the need and desire to play with pleasure. Though children with Progeria can partake in activities such as playing soccer or on the playground with other kids, they often need to stop and take a break. A break is necessary because they get tired quickly and get cold very fast (Parker 312). Research is constantly ongoing to determine a possible cure for Progeria so these children can do normal activities without all the restrictions. It is very difficult for researchers to gather information on the hereditary of Progeria simply because children do not reproduce (Progeria Research). There was recent evidence that looked upon giving nutritional therapy and a growth hormone to Progeria children. In a recent study when children were given the nutritional therapy and growth hormones there was an increase in growth factors found in the blood, which promote formation. There was also a decrease in the patient's basic metabolic rate (BMI). The BMI is the lowest amount of energy that needs to be taken in to ensure the child can perform normal activities and tasks (Progeria 8). In 2002, a team of scientists with The Progeria Research Foundation discovered the Progeria gene. This not only led to further understanding of Progeria, but scientists now know that studying Progeria can help us learn more about heart disease and the normal aging process that affects everyone. As a result of their discovery researchers have identified a potential drug treatment for children with Progeria, called farnesyltransferase inhibitors (FTIs). The support of Progeria families as well as researchers since the gene discovery has lead to another crossroads in the ongoing quest for a treatment. The protein that is believed to be responsible for Progeria is called progerin. In order to block normal cell function and cause Progeria, a molecule called a "farnesyl group" must be attached to the progerin protein. FTIs act by not allowing that attachment to take place. Researchers are concluding that if the drug can block this farnesyl group attachment in children with Progeria, then progerin may be "paralyzed" and Progeria improved (About). Receiving Physical or occupational therapy two to three times a week is a great way to help children stay active (Haran 1). Though the above mentioned treatments are a step in the right direction there is still no actual cure for Progeria. Treatments that are available are symptomatic and mostly aimed at providing psychological support. Items such as a wig may be beneficial to the child to make them feel better about their hair loss. Chest pains are also a common issue with Progeria patients. Chest pain relief is often accomplished by a medication called Nitroglycerin, a medication that relaxes muscle fibers in blood vessels that causes them to expand. This method allows the correct blood to flow into the affected areas. Nitroglycerin also enables tissues and cells to receive the correct amount of oxygen that is needed for cell maintenance (Progeria 3). In the spring of 2005 families of Progeria patients learned about two studies that uncovered some new information about Progeria. Pediatricians and parents are hopeful that researchers are on the right track to help these kids beat the odds. Until the medical research is further along it is advised that the best steps the parents can take in to treat their children with love and support and improve the child's quality of life (Haran 1). FTI drugs are a reliable source for the cure of the life threatening disorder that affects 1 in 8 million births and help these children resume a so-called normal life and live on to have children of their own.