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.
Progeria comes from a Greek word that means prematurely old (Ludman). After finding more cases of Progeria, researchers have discovered that there are three types of Progeria: Werner’s Syndrome, Wiedemann-Rautenstrauch Syndrome, and Hutchinson - Gilford Syndrome. Werner’s Syndrome is the adult type of Progeria, where a person starts to see symptoms in their teen years, and typically lives until their 40’s or 50’s (Gordon). Another type of Progeria is Wiedeman-Rautenstrauch Syndrome, which occurs in infants. In this case symptoms are noticed immediately after birth and the child normally only lives to their teen years (Staff). Lastly, Hutchinson-Gilford Syndrome is a type of Progeria in children where symptoms appear around the age of two, and the child’s shortened life ends in the teen years (Gordon). While there are different types of Progeria, this paper will focus specifically on Hutchinson-Gilford Syndrome.
Children with Hutchinson-Gilford are born looking normal and healthy, but during their first year of life certain symptoms start to appear (Gordon). A child’s height and weight begin to fall below the average for their age, and their joints begin to stiffen (...
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... April 2010 for answering any questions on Progeria (Gordon). Other organizations and foundations for Progeria are the Genetic and Rare Diseases [GARD] Information Center in Maryland and Madisons Foundation in California (NORD).
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.
In countries with life expectancies over 70 years of age, people spend on average about eight years, or 11.5 percent of their life span, living with disabilities. The passage "A Giant Step” by Henry Louis Gates Jr is a memoir about how he came to injure his foot, and all the complications that went along with the permanent injury. Similarly “The Absolutely True Diary of a Part-Time Indian” is a story about a teen named Junior who has hydrocephalic, we learn the many complications that come along with this disability. There are similarities and differences in how both people live their lives. Both people with their disabilities find it within themselves not to give up and still overcome challenges. On the other hand both mothers aren't the same, their motives for their children are completely different. Junior was also able to live a little more normal life, have freedom meanwhile Gates was held back a little more from
It is characterized by normal early growth and development followed by a slowing of development, the loss of purposeful use of the hands, slowed brain and head growth, problems with walking, seizures, and intellectual disability.
As for this concern Connie Panzarino was born in 1947. She was writer, activist and artist with the rare disease Spinal Muscular Atrophy Type III, formerly called Amytonia Congenita. From her early stage filled with joy and pain in her every step in her life. Finally, she strove to define herself: "I knew I was different. She didn’t understand if that meant that I would never walk. She didn’t know that most children with this disease die before they're five years old." In this deeply moving and articulate memoir, Connie Panzarino gives explanations her decades of struggle and triumph. She filled with spirit, passion and insolence, The Me in the Mirror reveals the story of a remarkable life. How she affected name of gender and she affected the name of disability. How she strives for the identity in the patriarchal and discriminated world. I am going to explore the all this issues through this
Waardenburg Syndrome affects a person’s hearing, pigmentation, facial features along with other defects. There are also four different types of Waardenburg Syndrome. The chances of hearing loss can be slim to none, although people with Waardenburg Syndrome can have profound hearing loss (Genetics 2013). Hearing loss can occur in either one or both ears and occurs at birth. People with Waardenburg Syndrome typically have pale blue eyes or even different colored eyes. Those affected can also have white or gray patches of hair at a young age (MedlinePlus 2013). Symptoms and effects of Waardenburg Syndrome appear to be different to each individual person who has the disorder. Some symptoms of Waardenburg Syndrome include pale skin, hair, and eyes, patches of white/gray hair, finger contractures, hearing loss, and different colored eyes (heterochromia). Other symptoms include numerous minor abnormalities and abnormal facial features (MedlinePlus 2013). Some symptoms, such as widely spaced eyes in type I, depend on which type of Waardenburg Syndrome a person is diagnosed w...
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."
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.
Nordqvist, Christian. “What Is Asperger's Syndrome?” Medical News Today. MediLexicon International, 9 Mar. 2012. Web. 29 Nov. 2013. .
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.
There are so many types of mental illnesses that affect people every day. When some people think of mental illnesses they think of the ones that would cause people to have physical symptoms as well, but that’s untrue, there are many more that you would never know anyone has if you were to see them on the street. As defined by the 2008 encyclopedia “a mental illness is any disease of the mind or brain that seriously affects a person’s ability or behavior. Symptoms of a mental illness may include extreme moods, such as excessive sadness or anxiety, or a decreased ability to think clearly or remember well.” A mentally ill person has severe symptoms that damage the person’s ability to function in everyday activities and situations. Every nation and every economic level can be affected by a mental illness. In the United States alone about 3% of the population has severe mental illness and to add to that number about 40% of people will experience a type of mental illness at least once in their lives. Some cases of mental illnesses can go away on their own, but some cases are so severe that they require professional treatment. There is so much more available to help people recover from their symptoms than in the past.
There are three types of this disease. Type 1 is called Adult, this is the most common phenotype, and it typically affects adults and Ashkenazi Jews. Patients with this type usually experience fatigue due to anemia, decreased blood platelets, weakening and pain of the skeleton, lung and kidney impairment and enlargement of the spleen and liver. There are no signs of brain damage with this type. Next, there is type 2, which is called infantile. Infants who are affected by this disorder will experience liver and spleen enlargement by three months of age. Progressive brain damage is severe in this disease as well as seizures and an abnormal gait. Due to the extensiveness and severity of type 2, death typically occurs by age two. Type 3 Gaucher’s disease is characterized as juvenile...
Asperger’s syndrome is classified within a group of disorders called Autism Spectrum Disorder (ASDs). The ASD’s consists of Autistic Disorder (“classic” autism), Asperger’s Syndrome, and Pervasive Developmental Disorder-Not Otherwise Specified (PPD-NOS).Those diagnosed with Asperger’s syndrome may display unusual behaviors, interests, and suffer from social challenges. Since Asperger’s is characterized as a high-functioning form of autism, those who have been diagnosed typically do not have delays with language or deficits with their intellectual capabilities.
There are several symptoms that can be used to detect the condition. It leads to the growth of the child in muscles, height and organs and hence the child being larger or bigger than his or her age. Other symptoms include; irregular periods, release of breast milk, weakness, increased sweating, thickening of the facial features, large hands and feet with thick fingers and toes, headache, delayed puberty, frontal bossing and a prominent jaw and double vision or difficulty with side vision. There are also some signs and test that can validate gigantism. The tests are; increased Insulin Growth Factor-I (IGF-1) levels, CT or MRI scan of the head showing pituitary tumor, high prolactin levels and failure to suppress serum Growth Hormone (GH) levels after an oral glucose challenge (maximum 75g). Damage to the pituitary generally leads to low levels of other hormones among the...
Ozonoff, S., Dawson, G., & McPartland, J. (2002). A parent’s guide to asperger syndrome and
Fetal and Postnatal Growth Introduction From conception through fetal development, childhood, and adolescence, there are many factors that affect the growth of a child. Throughout his life, child undergoes a remarkable transformation before reaching adulthood; this transformation involves not only physical growth and maturation but also a dazzling array of complex developmental events impacting on each organ system and on the child as a whole. Developmental phenomena can be important determinants of the young patient’s response to disease and to its management. Furthermore, normal features of “growing up” are, at times, erroneously interpreted as manifestations of disease, triggering unnecessary concerns. In turn, disease states may alter the pace and nature of maturation and growth during childhood. Fetal Growth Factors Fetal growth and development are controlled by genetic and environmental factors. There is overwhelming evidence that the intrauterine environment determines to a great extent the diversity in offspring after a normal pregnancy. This has led to the theory that the fetal organs are ‘programmed’ during pregnancy and that disturbances at a critical or sensitive period during development could lead to disorders after birth, and even to diseases declaring itself not sooner than at the adult age (Adzick, 1984). Especially organs such as the brain and the kidneys, where neurogenesis and nephrogenesis respectively take only place during fetal life, are thought to be vulnerable to disturbances in their development. Since after birth no new neurons and glomeruli develop, any disturbing influence on the brain and kidneys during development could have lifelong consequences. Important factors that negatively influence fetal d...
Ozonoff, S., Dawson, G., & McPartland, J. (2002). A parent’s guide to Asperger syndrome and