Progeri Hutchinson-Gilford Syndrome

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Genetic disorders are changes in the DNA sequence. They can be caused by a mutation in one gene or multiple genes. Before, there was stigma around genetic disorders and they were not understood as much. Many people treated those with such diseases as those who were not accepted into society. Progeria, also known as Hutchinson-Gilford syndrome, is an extremely rare disorder that causes rapid aging beginning at childhood. The term progeria comes from the Greek term progeros meaning prematurely old. It was named after the doctors who first described it in England. Dr. Jonathan Hutchinson discovered it in 1886, and in 1897 Dr. Hastings Gilford also described it. About 1 in 4 million children are born with the disorder. Progeria is an autosomal …show more content…
As children progress into the disease, they suffer from osteoporosis, atherosclerosis, cardiovascular disease and stroke. Children with Progeria die of atherosclerosis at an average age of fourteen years. Even though they rapidly age, they do not have features associated with the normal aging process, like cataracts and arthritis, Alzheimer’s disease, or cancer. Children with progeria die of heart attacks or strokes. While the disease takes a toll on the body, Progeria doesn't affect a child's intelligence or brain development. They act and think their own …show more content…
Medicine like aspirin and statin medicine help patients by protecting them from stroke or heart attacks. Lonafarnib, which is a type of farnesyltransferase inhibitor (FTI), was originally created for brain cancer but was unsuccessful. It was used to trials on progeria patients was successful and had shone hope for the development of a cure for Progeria. Those on the trials experienced weight gain, improved hearing, and a stronger bone structure than before. Twenty-eight children were chosen from 16 different countries to partake in the trials in Children's Hospital's Clinical and Translational Study Unit in Boston. They accounted for 75 percent of the cases worldwide. The prognosis for progeria is the age of death from seven to 27 years through atherosclerosis. Patients usually only live to their teenage years though there are some patients that have lived into their early 20s. The cause of death is usually a heart attack or stroke. A genetic test for progeria syndrome issued to determine if the patient has the syndrome. In the past, doctors had to base a diagnosis on just the physical appearance of a child which were not seen until year or two later. This genetic test helps doctor diagnose a child earlier which enables early treatment. This genetic test can also reassure parents that none of their future children will have the disease. A doctor would also look at the physical characteristic like the skin and height of a patient and if