The Progeria Research Foundation was founded by Dr. Leslie gordon and Dr. Scott Berns who found out their son Sam Berns was diagnosed with Progeria just shy of his second birthday. It was then when these two doctors who never heard of the disease either, were informed and started doing research on behalf of their son, Sam. They quickly found out that the condition was so rare there was no where for the victims to go, no medical help, no place for parents of the children to console and no source of funding for researchers who were trying to research Progeria. This lack of information that had desperately became reality for this doctoral family became the fuel behind their inspiration to change the lack of funding, support and awareness. National …show more content…
Standing in a room full of children affected by the disease, you would think they all were all brothers and sisters because they all share the same characteristics and look respectably identical. The rapid growing of their body puts stress on the body that allows them to pass away from heart attacks and strokes early as the age of four but overall the average death age for children living with Progeria is thirteen (Biotech,2009). After diagnosing and studying Progeria in children, German scientist, Otto Werner discovered Adult Progeria, which was named after him called, Werner’s Syndrome. Too like Progeria in the children, the same effects but in adults starting as early as the age of twenty-one. Werner’s Syndrome classified by the development of a distinctive high pitch voice, cataracts in both eyes and a number of health problems that stem from the disorder. During teenage years one may not even appear to have symptoms of this particular condition, however by the early twenties, it is more obvious. This disorder has commonly been identified in Japan
Progeria is one of the least known genetic disorders. There are two types of Progeria, the only difference being the age group that it affects. The Hutchinson-Gilford Progeria Syndrome is commonly called Childhood Progeria. The second type of Progeria is Werner’s Syndrome, which is the adult form of Progeria. What basically happens in this disorder is that age is accelerated seven times faster than that of a normal person. For example, for Hutchinson-Gilford Progeria Syndrome, a child could look like he is fifty when he is actually five years old. A twenty year old with Werner’s Syndrome could look similar to a sixty or seventy year old person. There is, even now, not much information known about this genetic disorder because
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).
Approximately 947,570 Americans have Asperger’s Syndrome (AS), however, it is not an easy disorder to explain (Bashe 19). With multiple conditions and characteristics in each case, AS is not an easy disorder to diagnose. Asperger’s Syndrome was named after Hans Asperger, an Austrian physician, who first described the disorder in 1944 after studying a group of children with similar, unusual characteristics. However, AS was not made an official disease until 1994. Consequently, Asperger disease is just now becoming published and popular so there is still research and questions being answered. Asperger’s Syndrome, an autism spectrum disorder, is noted by above-average
Hutchinson-Gilford Progeria syndrome, also known as HGPS, or Progeria, is a very rare genetic disease caused by a mutation in the cell. In 1886, Jonathan Hutchinson first reported case of a 3 ½ year old boy who had the appearance of an old man. In 1897 Hastings Gilford reported a second case with similar features. However, this mystery disease didn’t have a name until 1904, when it was named after the two men. People who have HGPS usually star showing symptoms by the age of 2, and only live to be a teen-mid-20s.
Her daughter said in the interview “that’s the main thing that’s troubling me about it why was it kept such a big secret?” After the family was told about the medical advances the son reacted by saying “it makes me happy to know that my mother contributed something to the world”. So at first they family was shocked and humiliated for not being able to given the privilege of knowing their mothers contributions to the scientific world.
How is it possible for a child to be born looking healthy to then rapidly age and die at an early age? Progeria, a genetic disease, is the answer. This rare disease causes premature aging and is fatal. By looking at the symptoms, the genetic cause, the research for a cure, and what you can do it, is possible to understand progeria.
One hundred and thirteen children have the mind of an adolescent, but the body of the elderly. (Gordon) These children are dealing with the deadly disease known as Progeria. The main cause of this is a minute genetic mutation, which leads to an abundant amount of symptoms. Progeria does not affect a ubiquitous number of people; however, it still has an impact on the victim and their families. In the beginning stages, the child grows slowly without any weight gain resulting in the appearance of aging. The child's life is also affected due to the symptoms, tests, and treatments they experience. Progeria is a rare ailment in adolescents that stems from a specific genetic abnormality for which there is no current cure, and it dramatically
Eugen Blueler, a psychiatrist, was the first to introduce the name "Autism" but he diagnosed this disease to a schizophrenic adult. Leo Kanner distinguished the two later in order to clarify the understanding of the disability. (Forty-six)
Progeria, also known as Hutchinson-Gilford Progeria Syndrome (HGPS) is an extremely rare genetic disorder where symptoms resembling aspects of aging are displayed at a very early age (Progeria 101). A genetic disease is an illness caused by one or more abnormalities in the genome, especially a condition that is congenital (present from birth). Genetic diseases are rare and may or may not be heritable. There are thousands of extremely rare genetic diseases, one being Progeria. Progeria affects its victims and their families more than physically; it takes a toll on the mental and emotional state of mind.
Schindler disease type III is intermediate in severity between types I and II. Affected individuals
A example of forgotten baby syndrome is Lyn Balfour a U.S. army reservist who completed two tours in Iraq. This strong, disciplined and organized woman is also a devoted mother. Her life was forever changed in March 2004, when she left her 9-month-old son in her vehicle for seven hours when she went to work. In addition to, Lyn has a complete memory of taking baby Bryce to daycare that morning and dropping him off. Nevertheless, due to a cruel trick, her brain failed her and this exact scenario has resulted in hundreds of babies deaths. Lyn says that, ”somehow maybe you think you’re protected, it can’t happen to me because I’m not that bad parent, which is the biggest mistake you can ever make," Lyn told Sunday Night. "I manage $47 million worth of products in
Affected infants can’t turn over, sit, or crawl. They also get startled easy to loud noises. As the disease continues they can experience seizures, vision loss, hearing loss, intellectual disability, and even paralysis. Usually they live into only early childhood. Seizures becomes a problem between ages two and five, with death at around fifteen years of age. Age of death is usually between 2 and 4 years, often from pneumonia.
In 1896, Sachs gave the newly discovered disease a name: amaurotic family idiocy. Over the next decade, researchers learned more
Lamentably, down syndrome and autism are the only brain disorders that come in mind to many people when the word syndrome is spoken. However, there are other rare types of disorders that are now increasing dramatically that many are not aware of. Capgras syndrome is a disorder that is not acknowledged by the majority. This psychological issue has been discovered in the 80s by a French psychiatrist named Jean Marie Joseph Capgras where the disorder has been named after her name. This syndrome is a rare delusion disorder where the ill goes through the illusion of seeing the double of a beloved friend, family, pet or even a thing while strongly believing that they are not the same person anymore but are different individuals or things that has
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.