Sam Berns appeared completely normal physically and genetically when he was first born. However, as he began to age into his childhood his parents observed certain aspects that where not evident of a normal child. Sam Berns was then diagnosed with Progeria which is also known as Hutchinson-Gilford Progeria Syndrome. According to Sam Berns video “My Philosophy for a Happy Life” approximately 350 kids are affected with this syndrome worldwide. The etiology or the generic cause of progeria is based solely on the child’s genetics. Even though the syndrome is based on genetics, it is not inherited or passed down in families. Also, the syndrome can be in both sexes and all races. Genetically the child instead of having the normal protein of Lamin …show more content…
At birth the children who have Progeria appear completely normal. The child does not appear to have the obvious signs or symptoms of the symptom until after the first year of life. The more prominent clinical manifestations or signs and symptoms a child with Progeria experiences are the following: tight skin, lack of weight gain, stunted growth, abnormal tooth growth, high-pitched voice, hair loss, and loss of body fat and muscles. However, the main visible aspect of a child with Progeria is as the child ages the child begins to age quickly. A child who may be eight years old will instead look about the age of eighty. Also, as the child begins to age the child begin to experience diseases that would be evident later in life such as when a person passes the age of fifty. Some of these diseases in include: heart disease, osteopenia or bone loss, and arteriosclerosis or hardening of the …show more content…
The wind was up that day and the waves from the boat seemed to increase rapidly while we where on the tube. At one point, we hit a wave just right and the wind made its way under our tube and Miriam and I went tumbling off into the water. When I fell into the water I felt my elbow hit something that was firm. When I finally bobbed up from the water, I was holding onto my elbow because it was in an intense amount of pain. At this point Miriam had not came out from the water, however, when she did I noticed a gapping hole in above her eye and blood running down her face. The boat had stopped a few feet ahead of us and apparently could not hear me screaming to come closer fast. I told Miriam to swim fast that I had hurt myself because I did not want to frighten her. However, she just waded in the water. In this moment I knew I had to do something quickly but in the back of my mind the only thing I was thinking was how am I going to get Miriam and myself back to the boat when I cannot swim. Then it hit me with that attitude I was not going to get us back to the boat. I grabbed Miriam’s life jacket with my right arm despite the pain in my elbow and started paddling and kicking as hard as possible hoping to get to the boat. Surprisingly, we made it back to the boast despite my lack of knowing how to swim. Therefore, my determination and
Progeria is an autosomal recessive disease, which means it is not carried on a sex chromosome. Hutchison-Gilford Progeria is caused by a mutation in Lamin A. Lamin A is a fibrous protein involved in the structure of the nuclear membrane. When there is a mutation in Lamin A it is likely the nucleus loses its normal shape and therefore its function is compromised. As of now, it is known that this is the cause of Progeria itself; however, neither doctors nor scientist can determine what this mutation has to do with the aging-like deformities of Progeria (Kugler).
After a while of searching about progeria, we have found that there are two types of progeria Hutchison-Gilford and Werner Syndrome. They both have the same mutation and symptoms, but they differ in the time the mutation occurs, but still, there is not any specific cure for it yet. Also, we have found that progeria is not related to family disorders’ history like other mutations. The mutation actually happens randomly at a rate of one of four to eight million people.
A child with progeria does not show symptoms at birth; however, within the first two years the disease will make itself known. Signs of progeria include growth failure, loss of body fat and hair, aged-looking skin, stiffness of joints, hip dislocation, generalized atherosclerosis (the buildup of fat and cholesterol in the arteries), cardiovascular (heart) disease and stroke. Despite differences in ethnic
The growth rate is slower than other children that grow normally. Children with progeria syndrome are much shorter and weigh less than the normal growing children their age. Children 9-24 months start to experience growth delays. They have disproportion of a small face compared to the head, an undeveloped jaw, crowded teeth, small eyes, and a small nose. By age two the child experience hair, eyebrow, and eyelashes being loss and replaced by light hair that cannot be visible. Also they can have hip dislocations, strokes, heart attacks, prominent veins on scalp, loss of fat beneath the skin, and skeletal defects. Average die at age thirteen due to heart disease but could range to about eight to twenty one years of
Progeria is a fatal genetic condition characterized by an appearance of accelerated aging children. There are different types of Progeria but the classic type is Hutchinson-Gilford Progeria Syndrome. Progeria means “prematurely old.” The scientific name for the genetic mutation is Hutchinson-Gilford syndrome, but is known as Progeria or HGPS. HGPS is caused by a mutation of the LMNA gene. The LMNA gene produces the Lamin A protein, which holds the nucleus together, Researchers say that Lamin A protein makes the nucleus unstable which leads to aging in Progeria. The symptoms of Progeria in the skin are wrinkles or dryness. Some common symptoms of Progeria are hair loss, delayed tooth development, enlarged head, high-pitched voice, loss of muscle,
In identifying the Klinefelter syndrome, the signs and symptoms fall into four main categories: Physical Symptoms, Language and Learning Symptoms, and Social and Behavioral Symptoms. Most boys with KS tend to have more feminine physical aspects. Boys with Klinefelter Syndrome may be slightly taller, fatter around the belly, clumsier, slower in developing, coordination, speed, and strength. When puberty hits,
This lamin acid is called progerin. Progerin produces a poorly structured nuclear lamin that does not allow for molecules to enter and leave the nucleus properly. This can makes a build up of progerin inside the nucleus that causes the nucleus to malfunction and die prematurely (LMNA, 2013). This is what causes the childhood onset of extreme aging that is seen in progeria patients. The quickened pace of cell mortality causes physical changes in the patient that is seen in the
Hutchinson Gilford Progeria syndrome (HGPS) is a very rare and destructive genetic disorder. It is progressive, causing children to age rapidly beginning 2 years after birth. Children with Progeria usually appear normal at birth, however by 1 year the signs and symptoms of Progeria begin. Symptoms of Progeria include short stature, bulging eyes, micrognathia, disproportion of head to body, alopecia, beaked nose, pathologic bone fractures, hearing loss, photophobia and hypertension. (Alves and others 2014) Progeria’s occurrence is 1 in 4 million to 1 in 8 million live births and males are more frequently affected than females. The average life expectancy for a child with Progeria is about 13. (King 2013) However some with the disease die younger and some live to be 20 years or older. Death in Progeria is primarily caused by heart attacks and atherosclerosis. Atherosclerosis is a disease in which the arteries become hardened. (Bhimji 2011)
In, Hutchinson-Gilford Progeria syndrome: Substance from broccoli can moderate defects, the author discusses an interesting new discovery made by scientists. Apparently a substance found in broccoli has been shown to help patients diagnosed with HGPS, or Hutchinson-Gilford Progeria syndrome reactivate protein breakdown, which, in reaction, reduces disease related-defects caused by HGPS. Patients with HGPS have a protein known as progerin, which is not functional but is synthesized inside the body. This causes the cells to age prematurely. This, in turn, causes patients to suffer diseases common with the elderly, like atherosclerosis, heart attacks, and strokes. While researching this disease, scientists found that even healthy cells carry progerin,
Hutchinson Gilford Progeria syndrome (HGPS) is a very rare and destructive genetic disorder. It is progressive, causing children to age rapidly beginning 2 years after birth. Children with Progeria usually appear normal at birth, however by 1 year the signs and symptoms of Progeria begin. Symptoms of Progeria include short stature, bulging eyes, small jaw, disproportion of head to body, alopecia, beaked nose, pathologic bone fractures, hearing loss, photophobia and hypertension. (Alves and others 2014) Progeria’s occurrence is 1 in 4 million to 1 in 8 million live births and males are more frequently affected than females. The average life expectancy for a child with Progeria is about 13. (King 2013) However some with the disease die younger and some live to be 20 years or older. Death in Progeria is primarily caused by heart attacks and atherosclerosis. Atherosclerosis is a disease in which the arteries become hardened. (Bhimji 2011)
Progeria is a rare, fatal, genetic condition that comes from the Greek word progeros meaning prematurely old. In the greek language, the word ‘pro’ means before and the word ‘geras’ means old age. Another name for progeria is Hutchinson-Gilford Progeria Syndrome. Hutchinson-Gilford Progeria Syndrome (HGPS) was first described in 1886 by Dr. Jonathan Hutchinson and also in 1897 by Dr. Hastings Gilford in 1897 – both in England.
Progeria comes from the Greek word progeros meaning 'prematurely old' (Gordon 66). Progeria also known as Hutchinson-Gilford Progeria Syndrome, is an extremely rare and fatal genetic disorder that assists in accelerated aging. Symptoms of old age start manifesting in new born babies affected with this condition. These children age around six times faster than normal human beings, therefore resulting in an incomplete shortened life. The average age of death for progeria patients is thirteen, but in reality their body functions as if they were eighty (Gilford). The condition was discovered independently by two scientists, Jonathan Hutchinson in 1886 and Hastings Gilford in 1897(Online). The other name for progeria, Hutchinson-Gilford Progeria syndrome (HGPS), honors these two. These two men brought the mysterious disease to light for further investigation.
2) The third group instructed the class about progeria (Hutchinson-Gilford progeria syndrome, or HGPS). Progeria is a rare fatal genetic syndrome characterized by accelerated aging in children. All children with this disease have similar symptoms that go together, therefore, it is considered a syndrome. Children with progeria have remarkably similar appearances, regardless of race.
In infancy, this disorder is characterized with weak muscle tone, feeding difficulties, poor growth and delayed development. Some people with P.W.S. with obesity
The first case of the disorder was discovered by Dr. Jonathan Hutchinson in 1886, where a 2 year old child was admitted and diagnosed with what Hutchinson called “Old mannishness” (Lo Cicero). The name progeria, coming from the Greek word “gerios” (meaning old) was coined by Dr. Hastings Gilford in 1904. In 1972 the disease was renamed with the present nomenclature of “Hutchinson-Gilford progeria syndrome”