Hutchinson-Gilford Progeria Syndrome ("Progeria", or "HGPS") is a rare, fatal genetic condition characterized by an appearance of accelerated aging in children. This means that the child that is affected with this disease is getting older faster than the normal person. Doctors first found it in England; in 1886 by Dr. Jonathan Hutchinson and in 1897 by Dr. Hastings Gilford (Progeria Foundation). HGPS is caused by a mutation in the genes called LMNA (lamin-a). This gene holds the protein which is a structure that holds the nucleus of the cell together. Researchers figure that the gene is becoming unstable and causing the cell to collapse. This causes premature aging throughout the child’s body. Progeria is a very hard disease to overcome. Doctors have been setting trials since the first outcome came to them. The syndrome hits the baby within 18-24 months after birth. Progeria signs include growth failure, loss of body fat and hair, aged-looking skin, stiffness of joints, hip dislocation, generalized atherosclerosis, cardiovascular (heart) disease and stroke. Children that are diagnosed with Progeria usually end up dying of Atherosclerosis which causes either a heart attack or a stroke at the usual age of 13. Progeria is an extremely rare disease - known to currently affect only 100 children worldwide. Progeria affects about 1 in 4-8 newborns. As of last year there were over 280 children living with Progeria around the world. There is not a specific sex or race that gets affected. It could happen to anyone. Also, as of last year the foundation has found children in 40 different countries (Progeria Foundation). Having this disease being so widespread it is hard for doctors to accommodate all of the affected children. Doctors came up with a trail base run in which they get so many affected children and give them the FTI drug (Farnesyltransferase Inhibitors) and run multiple tests. This drug was only given to a select group of children that were chosen and were thought to have the worst symptoms. This drug was created to help slow down the aging process and help the organs not to fail. The FTI drug was originally created for cancer patients, but scientists were capable of reversing the nuclear structure abnormalities that hallmark the cells from children. The drug is usually taken in pill form but can be taken with an IV if necessary. Doctors started their first trial run in 2003. This is when they found the mutation in the nucleus. Then scientist created the drug to help the affected children. They wanted to try this drug on a selected amount of children first to see if it should be offered around the world at different hospitals. This trail only let a 28 selected children in. I learned about this first trial from a movie that was about a little boy, named Sam Berns with Progeria. He was one of the few selected to be in the FTI drug trial at first. Sam is from Boston and he is an eighth grader. He dreamed of being in the high school marching band since he was little. He was 13 going on 90. Both Sam’s parents are doctors: his dad is a pediatric ER doctor and his mother is a research physician. They both came together to create this foundation and to run this trail to help children. This trial lasted several years and the children were in and out of hospitals and taking the FTI drug and running test and taking pictures of how their body is reacting to the drug. The pictures help the doctors determine if the medicine is actually working or if it is not. Sam Bern’s dreamed of making it to high school and living a normal life even if he had to face it with Progeria. He just wanted to live and play in the marching band. His dreams came true. Sam made it to high school while still in the trial. He managed to play in the marching band with help of the director and friends. When the trial was over, Sam’s life was not. Sam made it through the trail unlike some of his friends who did not because their bodies rejected the drug.
