Wait a second!
More handpicked essays just for you.
More handpicked essays just for you.
Symptoms of progeria essay
Don’t take our word for it - see why 10 million students trust us with their essay needs.
Recommended: Symptoms of progeria essay
The chance of having a baby with Progeria is about 1 in 4 – 8 million (“Progeria 101/FAQ"). That means that there are approximately 200-250 people diagnosed with Progeria in the world at any point in time (Progeria 101/FAQ"). Sam G. Berns was among that small amount until he passed away early this year, on January 14th, from complications of Progeria at the age of seventeen. He was an intelligent junior who attended Foxboro High School in Foxboro, Massachusetts. During his life, he reached the level of Eagle Scout in Boy Scouts, was a percussion section leader in his high school band, spoke at two TED conferences, and was interviewed on national television (ABC and NPR). His hometown is a mere 10 miles from my own, causing me to learn about his life’s journey from the community. At seventeen years old, he had the body of a one hundred and thirty-six year old man. For those who have Progeria, aging is eight times faster than the average person and starts within the first years of life ("Children Living With Progeria”). Sam’s inspirational life was the central reason for my decision to research the biology behind Progeria and seek knowledge of the lives of those who have been inflicted with it.
Before researching, I knew little about Progeria’s causes, treatments, and symptoms. All I knew was that children living with it had similar appearances due to their premature aging and that they would pass away at a young age. After the death of Sam Bern, I asked my mother, a nurse practitioner, if she had ever seen a patient dealing with Progeria. She replied saying yes that she had during her time at Children’s Hospital in Boston. The boy she had seen was bright spirited despite his constant pain, and was determined to live as best as p...
... middle of paper ...
...ordon. Peabody, MA: Progeria Research Foundation, 2010. 17. Print.
NIH/National Human Genome Research Institute. "New Clues about Aging: Genetic Splicing Mechanism Triggers Both Premature Aging Syndrome and Normal Cellular Aging." Science Daily. Science Daily, 14 June 2011. Web. 31 Mar. 2014.
"Progeria 101/FAQ." Progeria Research Foundation. N.p., n.d. Web. 31 Mar. 2014.
"Progeria Clinical Trials." Progeria Research Foundation. N.p., n.d. Web. 31 Apr. 2014.
"Sunshine Foundation� The Original Wish Granting Organization." 24th Progeria Reunion. Sunshine Foundation, n.d. Web. 31 Mar. 2014.
"WE DID IT! First-ever Treatment for Progeria Discovered!!" Progeria Research Foundation. N.p., n.d. Web. 31 Mar. 2014.
"What Causes Progeria? - Hutchinson-Gilford Progeria Syndrome." What Causes Progeria? - Hutchinson-Gilford Progeria Syndrome. N.p., n.d. Web. 31 Mar. 2014.
The purpose of this paper is to analyze the case study of a three-year-old girl affected with Wolf-Hirschhorn syndrome. This condition malformation syndrome associated with growth retardation, mental retardation, and immunodeficiency subsequent from a hemizygous deletion of the short arm of chromosome 4. Wolf–Hirschhorn syndrome (WHS) is characterized by brain developmental defects, immunodeficiency, microcephaly, craniofacial deformities, and congenital heart defects (Hajdu, Ciccia, Lewis, & Elledge, 2011). The median life-expectancy for a patient with this chromosomal syndrome is around 34 years of age (Shannon, Maltby, Rigby, & Quarrell (2001). The patient presents with kidney failure that would require a transplant within the year. The transplant team and social services believe that the implications of her syndrome make her a less-than-ideal candidate for the liver transplant. The hospital claims that the patient’s mental status has no bearing on whether or not they deny a candidate a transplant. With the different stances among the hospital staff, the patient’s mother...
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.
Asperger syndrome belongs to a group of childhood disorders commonly known as pervasive developmental disorders or PDD's. The disorder is recognized as a less severe case of autism. Children who have the disorder have a difficult time in social settings but excel in other areas of inteligence. The disorder is usually a lifelong struggle but has few cases where the patent recovers in adulthood. The disorder is not widely understood by the population but it is becoming a more well known disorder. There is currently no cure for this disorder.
The cause of AS is still very much unknown.Children with Asperger syndrome start to show signs as early as one to two years old; however a diagnosis is rarely given until later, usually around the ages of th...
Hutchinson-Gilford Progeria Syndrome other wise known as “Progeria”, or “HGPS”, is a very rare, and fatal genetic disorder characterized by an appearance of accelerated aging in young children. The rate of aging is accelerated up to seven times that of a normal life span in first 13 years of life. Progeria comes from the Greek word (πρό), “pro” meaning premature and (γῆρας), “gerias” meaning old age. While there are different forms of Progeria, the most sever form of progeria is formally known as Hutchinson-Gilford Progeria Syndrome, which was named after the doctors in England: in 1886 by Dr. Jonathan Hutchinson who described the syndrome, and by Dr. Hastings Gilford who independently discovered it in 1904 (Jameson).
Middle school is a hard time on girls with bullying, trying to fit in, and figuring out who they are. People don’t realize that middle school is a time when children are transitioning from childhood to the teenage years, which can come with emotions like confusion and frustration. Living with a rare birth defect adds more pressure to a young teenager. They’re different physically and children become more aware of that in the middle school years. This can cause even more bullying and possibly make the child feel like an outcast. Girls are brutal at this age by leaving others out and hurting others’ feelings just because they aren’t like everyone else. This can make it harder for those girls with birth defects to cope with the transitioning and stress of middle school. If these girls are bullied for just a few physical differences, it may be worse if they have another defect or disease causing yet another difference. Middle school girls diagnosed with Poland Syndrome - “described as an undevelopment or absence of the chest muscle on one side of the body and webbing of the fingers on the affected side” (The Genomics Landscape) - not only face more emotional issues than other girls their age, but they have more physical and immunity issues as well. This paper will examine the background information of Poland Syndrome, emotional stories of middle school girls with Poland Syndrome that went through stressful times with their birth defect, and how people with Poland Syndrome are more susceptible to other diseases and defects than others.
In closing, as overwhelming as the complications brought about from progeria may seem it is important to keep things in perspective. Research has gone a long way to improve the livelihood of those affected by this awful disability and in the process opened several new doors. While these fresh discoveries raise a plethora of new questions, it is essential to pursue the betterment of life for everyone. After all, HGPS is but one of many disorders set off by a slight and uncontrollable mutation. Fortunately, organizations such as the Progeria Research Foundation are working hard to raise awareness of the disease and unlock its true cure. In time all of this strife will bring a rich reward of enlightenment and new possibilities for the genes of every living being as the mesmerizing depths of the genome are abundantly explored.
Young children are usually concerned about getting the latest toy, plenty of play-time, and making friends. However, 1 in every 8 million children experience rapid aging and are typically concerned with issues such as hair loss, thin skin, stiff joints, and heart disease (Gordon). This rare fatal genetic disease is known as Progeria. In the last couple of decades, professionals have brought increased awareness and knowledge to Progeria and its symptoms, genetic cause, history, research, treatment, and support resources available to affected children and their families.
The video, “Cracking the Genetic Code,” brought for forth some great interest in knowing that the medical field and technology has advanced so much that we can know our own genetic code and if we will or develop a certain disease. But aside from the interest, the video also brought forth some heartbreaking moments for the patients in the video that have had their lives turned around due to medical illness. For example, Megan Sullivan, who was a fully functional young woman and started showing symptoms of Huntington’s disease during her college years, which reduced her functioning to where she can barely even speak for the interview. It’s hard seeing somebody that young go through those huge obstacles, or in the case of Catherine Ellton, who, in a way, was forced to speed up her life in a
Many people across the world are unfamiliar with disorders associated with autism. Some people do not even know what autism actually is. Asperger’s Syndrome is one perplexing disorder, of countless, that needs to be acknowledged. Although it is one of the more well-known disorders, an understanding of Asperger’s is far from common knowledge. There is an abundance of misconceptions and people unaware of what Asperger Syndrome actually is. Being uncertain about the characteristics of a person with Asperger’s allows people to go through life not understanding the disorder itself and people who have it.
This paper was reprinted with permission of Susan Moreno on the O.A.S.I.S. (Online Asperger's Syndrome Information and Support)
Do you know there is a medically diagnosed disorder that affects over two American children?” Experts on the subject say there are many more undiscovered cases out there and the cause is still unknown. It sounds like we have a really big problem. The thing is, the disorder that affects all these children, isn’t a disorder at all.
bizarre genetic disease that seems to accelerate ageing could hold the key to longer lives for children with progeria.Progeria is an extremely rare, fatal genetic condition which causes babies to age quickly. Progeria was first described in an academic journal by Dr. Jonathan Hutchinson in 1886 and also by Dr. Hasting Gilford in 1897 both man was from England (Nordqvist 1). After discovering the two people they later came up with a new name for Progeria called Hutchinson-Gilford Progeria Syndrome (HGPS). Today in life there 53 cases of Progeria around the world and only 2 in the UK.1 in every 4 to 8 million babies are born with Progeria. Progeria effect all race equal boys and girls.
...f another patient, two year old Monthati Makofane. The child was “frightened” and “overwhelmed” , however, his parents were thrilled at the idea that their son would grow up and have what they deemed a “normal life”, submitting to the ideas of the medical perspective.
Woodbury-Smith, M. R., and Volkmar, F.R. (2009). "Asperger syndrome". Eur Child Adolescent Psychiatry 18 (1): 2–11.