Progeria
The genetic disorder I chose is called Hutchinson Gilford Progeria Syndrome. It is more commonly known as just Progeria. I chose to write my paper on Progeria because it is a disease that many people know about, because its been on the news, and made into books and movies. Yet, I have never even heard of it till now.
Hutchinson Gilford Progeria Syndrome is a rare genetic disorder. It was discovered in 1886 by Hastings Gilford and Jonathan Hutchinson. It did not gain people’s attention though until 1981. This was when two kids,with Progeria, were discovered at Disneyland. These two kids were from South Africa and Texas. They were discovered by the media, who then did a report on them.
Progeria results in premature aging, and a life expectancy of 12 to 14 years. No signs are shown at birth, but they are usually seen between the ages of one and two. Some signs and symptoms are dwarfism, loss of body fat and hair, aged looking skin, hip dislocation, heart disease, a small jaw and face, and a pinched nose. Children with Progeria never reach sexual maturation and have thin high pitched voices. This disease does not affect their mental ability, in fact their intelligence is normal or above normal. By the age of ten these children are barely the height of a three year old. They only grow to the height of a five year old though, and have delayed tooth formation. The one major symptom and problem found in patients with Progeria is heart disease.
Heart disease, or atherosclerosis, is a major problem many of these children face. In fact, eighty percent of them die due to heart complications. Due to this major heart problem, they may have an enlarged heart, high blood pressure, or even chest pain due to poor blood flow to...
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...is could not have been said twenty years ago.Though there is only one organization solely dedicated to Progeria research, we continuously learn more about Progeria each day. With new information and treatments being discovered, the hope for finding a cure is even greater. Hopefully, over the next few years, we will be able to see an even bigger improvement in Progeria research and discoveries.
Biblography
"About Progeria." Progeria Research Foundation. N.p., n.d. Web. 21 Nov. 2013.
Ha Baek, Jean, Tomás McKenna, and Maria Eriksson. "Chapter 3 Hutchinson-Gilford Progeria Syndrome." Genetic Disorders. N.p.: InTech, 2013. 65-87. Print.
Wynbrandt, James, and Mark D. Ludman. "Progeria." The Encyclopedia of Genetic Disorders and
Birth Defects. New York, NY: Facts on File, 2000. 320-21. Print.
Turner’s Syndrome, which is one of the most common chromosomal abnormalities, is defined as “a syndrome with a chromosome count of 45 and only one X chromosome.” Turner’s was first described in 1938. Henry Turner, an endocrinologist from Oklahoma City, was the first to discover this syndrome. He was curious about why seven of his female patients, six adolescents and one adult, who he was treating for dwarfism and lack of development, were not responding to the treatments. He described the women as not matured, with short necks and low hairlines in the back, and an increased angle at which the elbow was bent. After many tests, the results showed that all of the women were missing an X chromosome.
Life according to Sam, is a documentary that showed Sam’s life with such disease, and how he was living as a teen with progeria.He mentioned the documentary in the video and told the audience how as a person he changes,such as some his dreams of what he wanted to become.he says”no matter what I choose to become, I believe I can change the world.And as I'm striving to change the world, I will be happy”.
There are less than three hundred cases of Hutchinson Gilford Progeria Syndrome in the world.(Asselin, 2014) The possibility of being born with it is obviously extremely small. Even though the possibility is small, the need to know about it and understand it is great. The people impacted by HGPS are merely children. They are innocent children with their lives cut short. All of this happens because of a small change in their genes.
Berkowitz, Carol. American Academy of Pediatrics: Dedicated to the Health of all Children. American Academy of Pediatrics. 8 Dec. 2004
Education is a powerful tool. The conference provided lessons beyond Asperger's Syndrome. "The more you learn about one disability, the more you learn about the nature of all disabilities."
The Progeria Research Foundation was created in 1999. Progeria does have parallels with normal ageing; at least in one key aspect how out blood vessels deteriorate. Researchers found that a drug known as rapamyein slowed and even stopped the disease progression the cells. Progeria only affected newborn babies. Progeria is a very rare disease that no one knows where it comes from. Research today is still haven’t come up with a way to stop the cure for Progeria. Some research found a way to make Progeria patients live longer then the age 13.
It is noteworthy to mention that there are numerous diseases associated with rapid ageing and progeria like symptoms. Cockayne, Lison, Werner’s, and Wiedemann-Rautenstrauch Syndromes are amongst these diseases. The shortened term progeria can be used to address any of these disorders but is most often specifically associated with HGPS. This distinct disease was named after Jonathan Hutchinson and Hastings Gilford who each independently described it in 1886 and 1897 respectively. Thankfully, this alarming syndrome is so rare that it only affects about 1 in every 4 million children born.
Hutchinson-Gilford Progeria Syndrome is one of the world’s rarest diseases. There have been less than a hundred reported cases worldwide. Although the cause of the disease has been detected, because of its rarity, there is still no known cure for the condition. The life expectancy of a child with Hutchinson-Gilford Progeria Syndrome is 13 years. Many efforts have been made to help find a cure for this disease. The Progeria Research Fund is solely focused on raising funds towards the research for this fatal condition.
Before starting this research paper my only awareness of Progeria was having seen pictures of children with this disease and briefly discussing it in my Biology class. After studying Progeria in depth, I not only know more, but also have a greater admiration of the strength and optimism in the families and children with Progeria. Additionally, I have realized how much I have taken for granted such as health, a long life, and ability to participate in activities easily. After learning about Progeria and Sam’s life, I realize how important it is for us to focus on how much we have instead of what we don’t have and live our life to the fullest.
Progeria, or formally known as Hutchinson–Gilford progeria syndrome, is a disease which causes early aging in children. It is non-hereditary and is an extremely rare genetic condition. Progeria has a reported incident of one in eight million newborns. Since 1886, there has only been an approximate of 130 youths that have been diagnosed with progeria. The patient’s average life expectancy is 13 years of age. However, some that are fortunate surpass this expectancy (Rathore). Progeria is in a group of rare genetic disorders, called laminopothies, which affects genes that encode proteins. Some diseases associated within this group are muscular dystrophy, lipodystrophy, leukodystrophy, diabetes and others. Malfunctioning of the arteries, or arteriosclerosis, is the leading cause of death in progeria.
"Heart and Circulatory System." KidsHealth - the Web's Most Visited Site about Children's Health. Ed. Yamini Durani. The Nemours Foundation, 01 Jan. 2013. Web. 21 Jan. 2014.
Rett syndrome was discovered after a pediatrician in Vienna, Austria, Dr. Andreas Rett, in 1966. The recognition of this syndrome began when Dr. Rett saw two girls sitting in the waiting room of his office demonstrating similar hand-wringing movements. After forward investigation, he was able to find other patients in his practice with characteristics similar to those of the two little girls. He then published a study describing the syndrome but it had very little attention. In the early 1980’s,Rett syndrome was officially known and named after Begnt Hagberg noticed very similar cases to those described in Dr.Rett’s article.
Turner Syndrome was named after a U.S. physician Henry H. Turner. He identified this disorder in 1928 and described the features in the 1930s.
High blood pressure affects children and their health in many ways. For example, “75 children age 10 to 18 with untreated high blood pressure performed worse on several tests of
Cardiovascular disease, cancer, and diabetes is said to account for nearly two of every three deaths in the U.S. Though there is a possibility of these diseases being prevented with a healthy lifestyle, there is no way to actually prevent the onset and progression of these conditions. Sadly, young children are being introduced to these unhealthy lifestyles and taking them right into adulthood; thus becoming walking billboards for the diseases. These diseases compromise health, shorten life expectancy, and cause enormous suffering, disability, and economic ...