An Overview of the Rare Disease Known as Kabuki Syndrome Essay

An Overview of the Rare Disease Known as Kabuki Syndrome As I look to graduate, I become increasingly aware that I have my entire life to look forward to. Even though I will have struggles throughout my life, I still have my well being to fall back on. When all else fails, I am and hopefully always will be self-assured that I am here, healthy and able to bring myself through the worst of circumstances. This realization and knowledge has presented itself in the most realistic way just within the past three years, while I continually helped disabled children learn various life skills. In these three years, my attention was unforgivably snagged by one child, Damion, who seemed to have an unfathomable web of trials and difficulties in his fragile little life. On an undying attempt to learn more about this child, I started working with him one-on-one and with his therapists and teachers. I soon came to realize that Damion had moderate to severe learning disabilities, speech impediments, fine (small muscles) and gross (large muscles) motor problems and sensory difficulties. His previous doctors considered Kabuki Syndrome, an extremely rare disease that is terribly difficult to diagnose, as a possible diagnosis. Even though Damion doesn't posses most of the characteristics accompanying Kabuki Syndrome, he may still have it. What would it take to diagnose him with the rare disease? Could Damion even be considered a Kabuki patient with only minor implications? Through this paper, answers to these pending questions will be portrayed, and the reader will gain a real understanding of what is currently known about Kabuki Syndrome. Two doctors from Japan, Dr. Niikawa and Dr. Kuroki first discovered Kabuki Syndrome in 1980 ("Kabuk... .... MedicineNet. Retrieved March 25, 2002 from the World Wide Web: http://medicinenet.com/script/main/AlphaIdx.asp?li=MNI&p=A_DICT Mhanni, A., & Chudley, A. (1999) . Genetic landmarks through philately &endash; Kabuki theater and Kabuki syndrome. In A. Chudley (Ed.) , Clinical Genetics (pp. 116-117) . Ireland: Munksgaard. Mhanni, A., Cross, H., & Chudley, A. (1999) . Kabuki syndrome: description of dental findings in 8 patients. Clinical Genetics (pp. 154-157) . Ireland: Munksgaard. Olney, A., Schaefer, G., & Kolodziej, P. (1998, September) . Kabuki syndrome. Ear, Nose and Throat Journal. Retrieved March 15, 2002 from the World Wide Web: http:/www.entjournal.com/html/september_98_syndrome.html An overview of kabuki syndrome. Geocities. Retrieved March 15, 2002 from the World Wide Web: http://www.geocities.com/Heartland/Fields/2978/kabuki.html An Overview of the Rare Disease Known as Kabuki Syndrome Essay An Overview of the Rare Disease Known as Kabuki Syndrome As I look to graduate, I become increasingly aware that I have my entire life to look forward to. Even though I will have struggles throughout my life, I still have my well being to fall back on. When all else fails, I am and hopefully always will be self-assured that I am here, healthy and able to bring myself through the worst of circumstances. This realization and knowledge has presented itself in the most realistic way just within the past three years, while I continually helped disabled children learn various life skills. In these three years, my attention was unforgivably snagged by one child, Damion, who seemed to have an unfathomable web of trials and difficulties in his fragile little life. On an undying attempt to learn more about this child, I started working with him one-on-one and with his therapists and teachers. I soon came to realize that Damion had moderate to severe learning disabilities, speech impediments, fine (small muscles) and gross (large muscles) motor problems and sensory difficulties. His previous doctors considered Kabuki Syndrome, an extremely rare disease that is terribly difficult to diagnose, as a possible diagnosis. Even though Damion doesn't posses most of the characteristics accompanying Kabuki Syndrome, he may still have it. What would it take to diagnose him with the rare disease? Could Damion even be considered a Kabuki patient with only minor implications? Through this paper, answers to these pending questions will be portrayed, and the reader will gain a real understanding of what is currently known about Kabuki Syndrome. Two doctors from Japan, Dr. Niikawa and Dr. Kuroki first discovered Kabuki Syndrome in 1980 ("Kabuk... .... MedicineNet. Retrieved March 25, 2002 from the World Wide Web: http://medicinenet.com/script/main/AlphaIdx.asp?li=MNI&p=A_DICT Mhanni, A., & Chudley, A. (1999) . Genetic landmarks through philately &endash; Kabuki theater and Kabuki syndrome. In A. Chudley (Ed.) , Clinical Genetics (pp. 116-117) . Ireland: Munksgaard. Mhanni, A., Cross, H., & Chudley, A. (1999) . Kabuki syndrome: description of dental findings in 8 patients. Clinical Genetics (pp. 154-157) . Ireland: Munksgaard. Olney, A., Schaefer, G., & Kolodziej, P. (1998, September) . Kabuki syndrome. Ear, Nose and Throat Journal. Retrieved March 15, 2002 from the World Wide Web: http:/www.entjournal.com/html/september_98_syndrome.html An overview of kabuki syndrome. Geocities. Retrieved March 15, 2002 from the World Wide Web: http://www.geocities.com/Heartland/Fields/2978/kabuki.html

Environment Day Essay

It gives me great pleasure to address you on this World Environment Day 2014. World Environment Day is commemorated worldwide each year under the direction of the United Nations to heighten public awareness of the environment. In recent times, the need to promote more earth friendly practices in order to maintain the health of our planet has come to the forefront, as world nations struggle to reverse the present trend of climate change. The World Environment Day is a reminder to show our gratefulness to Mother Nature, which sustains all forms of life. This is the day to focus our thoughts and our energies to make collective efforts towards protecting the environment. India has rich traditional knowledge and wisdom in the conservation of nature and natural resources. Religious beliefs, culture and folklore have together treated nature and environment with sanctity. Conservation and protection of environment and love for nature have always been part and parcel of Indian ethos and cultu re. Thank you all. Have a nice day. It gives me great pleasure to address you on this World Environment Day 2014. World Environment Day is commemorated worldwide each year under the direction of the United Nations to heighten public awareness of the environment. In recent times, the need to promote more earth friendly practices in order to maintain the health of our planet has come to the forefront, as world nations struggle to reverse the present trend of climate change. The World Environment Day is a reminder to show our gratefulness to Mother Nature, which sustains all forms of life. This is the day to focus our thoughts and our energies to make collective efforts towards protecting the environment. India has rich traditional knowledge and wisdom in the conservation of nature and natural resources. Religious beliefs, culture and folklore have together treated nature and environment with sanctity. Conservation and protection of environment and love for nature have always been part and parcel of Indian ethos and cultu re. Thank you all. Have a nice day. It gives me great pleasure to address you on this World Environment Day 2014. World Environment Day is commemorated worldwide each year under the direction of the United Nations to heighten public awareness of the  environment. In recent times, the need to promote more earth friendly practices in order to maintain the health of our planet has come to the forefront, as world nations struggle to reverse the present trend of climate change. The World Environment Day is a reminder to show our gratefulness to Mother Nature, which sustains all forms of life. This is the day to focus our thoughts and our energies to make collective efforts towards protecting the environment. India has rich traditional knowledge and wisdom in the conservation of nature and natural resources. Religious beliefs, culture and folklore have together treated nature and environment with sanctity. Conservation and protection of environment and love for nature have always been part and parcel of Indian ethos and cu lture. Thank you all. Have a nice day.

Drugs And Alcohol Abuse By Erik Fisher - 980 Words

I attended a school event in which Erik Fisher, a former drug abuse came to talk about is experience with drugs and alcohol with regards to college. He started off by talking about how even while in high school he struggled with the use of drugs and alcohol. His first year in college he was able to play college basketball at a division 2 school. After the first few months past, he found friends that partied and did drugs. He started to handout with that crowd and began to skip class and eventually fail most of his classes. This was a reoccurring cycle that happened many times. He went to many different colleges to play basketball but would not give up the drug and alcohol use. While he was in California playing for a college basketball team, he became suicidal. One night he decided that he was going to take so many pills, that he wouldn’t wake up in the morning. However, he woke up by a train track wanting to run in front of a train. He looked at his wallet and saw a picture of his baby brother and that is when he decided to get help. That was the first time that he decided to speak to a counselor and stay sober. However, that did not last long, he found himself going down the same downward spiral. This time, the spiral was even worse, he hit a car head on going 70 miles an hour, killing the other driving immediately. He woke up in the hospital and decided it was time to take responsibility for everything. He spends three years in prison and other year in boot camp. HeShow MoreRelatedThe General Theory Of Crime2462 Words   |  10 Pagesresponse of ‘uncertain’ is worth two points. The sum of the item scores is gathered with higher scores denoting lower self-control. Results found that levels of self-control were statistically associated with criminal victimization. In another study, Erik Stewart, Kirk Elifson, and Claire Sterk (2004) examined violent victimization among African American female offenders. Their findings supported the relati onship, thereby suggesting a link between low self-control and violent victimization can be observedRead MoreOne Significant Change That Has Occurred in the World Between 1900 and 2005. Explain the Impact This Change Has Made on Our Lives and Why It Is an Important Change.163893 Words   |  656 Pagesnadir of recorded human history provided much of the impetus for a worldwide resurgence of human rights activism, agitation, and legislation that came to be centered in the United Nations after 1945. The two global wars that generated the myriad abuses of human rights, while also unleashing potent forces for the liberation of women and colonized peoples more generally, are analyzed in considerable detail in John Morrow’s wide-ranging essay on the causes, experience, and impact of mechanized warfareRead MoreProject Mgmt296381 Words   |  1186 PagesIntroduction to Management Science: A Modeling and Case Studies Approach with Spreadsheets, Fourth Edition Stevenson and Ozgur, Introduction to Management Science with Spreadsheets, First Edition Project Management The Managerial Process Fifth Edition Erik W. Larson Oregon State University Clifford F. Gray Oregon State University PROJECT MANAGEMENT: THE MANAGERIAL PROCESS Published by McGraw-Hill/Irwin, a business unit of The McGraw-Hill Companies, Inc., 1221 Avenue of the Americas, New York