This website uses cookies to ensure you have the best experience. Learn more

An Overview Of The Rare Disease Known As Kabuki Syndrome

3246 words - 13 pages

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 ("Kabuki," 2000). At the time, the syndrome was given the name Kabuki Make-up Syndrome, because the physical make-up of the Kabuki patients' faces closely resembled the make-up technique used in the traditional Japanese Kabuki Theater. However, the term "make-up" in the name Kabuki Make-up Syndrome was eventually disposed of, satisfying several families, who believed the term was objectionable (Mhanni & Chudley, 1999, p.116). Since the discovery, the syndrome has obtained several names, one of which is Niikawa-Kuroki Syndrome (Digilio, Marino, Toscano, Giannotti, & Dallapiccola, 2001, p. 269).

At one time, many believed Kabuki Syndrome only survived in Japan, since it was the only place that cases had been found (Olney, Schaefer, & Kolodziej, 1998). However, it has since been discovered that the disease occurs throughout the entire world, and males and females are equally likely to posses the syndrome. It is still uncertain what Kabuki Syndrome is caused by. The disorder usually occurs within families, providing evidence that it is hereditary. However, there are usually no irregularities in the genetics of someone infected. Also, there is a very minute percentage of those suffering from Kabuki Syndrome that have chromosomal...

Find Another Essay On An Overview of the Rare Disease Known as Kabuki Syndrome

Rare Disorders: Causes of The Lesh-Nyhan Disease

1241 words - 5 pages Lesch-Nyhan Syndrome (or disease), I believe the term is used interchangeably, is a rare disorder that is carried by mother and passed to son, and occurs because of a deficiency of the enzyme called hypoxanthinine-guanine phosphoribosyltransferase (HPRT) [3]. It usually occurs in males and also has a high risk factor for gout because of the metabolic defect associated with the overproduction of uric acid [1, 2]. Uric acid is a waste product

An Overview of Polycystic Ovary Syndrome

757 words - 3 pages Polycystic ovary syndrome (PCOS) is a disease of the female reproductive system, involving the development of multiple cysts covering the ovaries. PCOS impedes normal hormone function, as well as disrupt production processes. According to Esther Eisenberg, “Between 1 in 10 and 1 in 20 women of childbearing age have PCOS”. Signs of the disease begin to show during adolescents, or late into young adulthood/childbearing age. Some researchers

An overview of the genetic disease Cystic Fibrosis

1275 words - 5 pages Cystic Fibrosis is a hereditary disease that causes abnormalities in the glands of the exocrine system, affecting the respiratory, digestive, and reproductive functions of sufferers. In our body, exocrine glands discharge various bodily secretions into small ducts (tubes), which lead to the outer surface of the skin or to the interior surfaces of such organs as the stomach and small intestine. In individuals with Cystic Fibrosis, these

Tourette Syndrome: an overview

2569 words - 10 pages anatomical location, number and frequency complexity and severity of the tics change over time.d) Onset is before the age of 21 years.e) Symptoms do not occur exclusively during psychoactive substance intoxication or known central nervous system disease, such as Huntington's chorea and post-viral encephalitis. Although the disorder is still considered to be quite a rarity, it is believed to effect one person in every two thousand people in Britain

Vitiligo, or famously known as the Michael Jackson disease

746 words - 3 pages The skin condition Vitiligo also known as leucoderma is where white patches develop on the skin. Any location at all on the body can be affected by vitiligo; most people with this skin condition have white patches on many areas of their body. Anyone can get it but darker skin tends to contract this more. Do not be alarmed though there is help and support in many different ways, stay tuned for more. (N.L) Vitiligo, or famously known as the

Huntington's Disease - An Overview

1187 words - 5 pages Huntington's Disease - An Overview Huntington's Disease is a devastating and progressive neurological disorder that resu lts primarily from degeneration of nerve cells deep in the center of the brain. The condition was first described by George Huntington, a physician in New York, in 1872. Even then, the physician recognized the all-encompassing factors of the disorder when describing it as, "coming on gradually but surely, increasing by

The disease, Amyotrophic Lateral Sclerosis, better known as Lou Gehrig's Disease

579 words - 2 pages Amyotrophic Lateral Sclerosis (ALS) is a disease that causes muscles to stop working. ALS is a rare disease found mostly in very active people. Another name for ALS is Motor Neuron Disease (MND) and the most common name is Lou Gehrig's disease. Lou Gehrig was a hall of fame baseball player who played with Babe Ruth on the Yankees. He once hit four homeruns in one game. He fell victim to ALS in the late 1930's.ALS was discovered in Paris, France

Overview of Down Syndrome

1200 words - 5 pages people and this makes a high risk of getting seizures. As the person ages there’s also an increased possibility of having diabetes, cataract and thyroid problems. Luckily, studies are increasing the life expectancy of patients. “In 1929, a baby born with Down syndrome often didn't live to age 10. Today, someone with Down syndrome can expect to live to 50 and beyond, depending on the severity of his or her health problems” (Mayo clinic 2011, April 7

An Overview Of the Crusades as History repeats itself

2767 words - 11 pages hands (Runciman 127). In a long and gruesome battle, the city finally fell on June 2, 1098. The Crusaders were quickly attacked by a new Turkish army from Al Mawsil. The army arrived too late to revive Anitoch's Turkish defenders and the Turks were forced to retreat on June 28, 1098.The Crusaders planned to start their march towards Jerusalem on November 1, 1098, but was delayed by an epidemic as well as fighting to the south of Anitoch. On January

Sickle Cell Disease: An Overview

1005 words - 4 pages Sickle Cell Disease: An Overview Sickle Cell Disease is a genetic disorder in which the body produces sickled shaped red blood cells. In sickle cell disease, or SCD, the hemoglobin in red blood cells groups together. This causes red blood cells to become stiff and C-shaped. These sickled cells prevent blood and oxygen flow in blood vessels, and collect in the blood vessels of the limbs and organs, impeading proper oxygenation of the blood

Sickle Cell Disease: An Overview

1082 words - 5 pages Sickle Cell Disease: An Overview Sickle Cell Disease is a hereditary issue in which the body produces Sickled formed red platelets. In Sickle cell disease, or SCD, the hemoglobin in red platelets gathers together. This in turn causes red platelets to get firm and C-formed. The most well-known signs and indications of SCD are anemia and pain through the body. Sickle Cell Disease occurs most commonly in individuals whose families

Similar Essays

Abnormality Of The Heart Known As Wolff Parkinson White Syndrome

1212 words - 5 pages : • In a clinical ECG scan of 22,500 thought to be healthy individuals, .25% were found to have patterns of the WPW syndrome, with 1.8% of the individuals reporting an occurrence of tachycardia. • Nearly 80% of patients with a positive indication of WPW have what is known as reciprocating tachycardia, while 5% of those patients suffer from atrial flutter (abnormal heart rhythm that occurs in the atrium of the heart) WPW can be diagnosed at any

The Severe Disease Known As Multiple Sclerosis

1154 words - 5 pages In the world of neurology, there are a vast amount of neurological disorders, conditions, and diseases. One severe disease is known as Multiple Sclerosis. In this research essay, I will be discussing what multiple sclerosis is, symptoms, causes, personal experience, and treatments. M.S., as some would call it, also known as multiple sclerosis is a neurological disease. This disease, in particular, could also be viewed as an autoimmune disorder

An Essay On Edward's Syndrome Also Known As Trisomy 18

568 words - 2 pages Edward's syndrome! Yes, indeed it is one of many disorders that after hearing about it, one cannot help but sadden. For, it has great impacts on the individual it emerges in, as well as his/her family overall.Edward's syndrome is a rarer cause of mental retardation than Down's syndrome, and a more severe disease. About 30% of babies with this condition die in the first month and fewer than 10% survive the first year (Oxbridge Solutions Ltd, 2003

Progeria: The Rare “Aging Disease” Essay

2574 words - 11 pages , meaning that a parent has a small proportion of cells that are weakened but not enough to have Progeria (“Progeria 101/FAQ"). Parents have the ability to undergo prenatal testing to acquire if the baby will be subject to have Progeria. Progeria is an autosomal dominant disease meaning that one defected gene in each cell is enough to result with a person having the disease. The direct cause of Hutchinson-Gilford Progeria Syndrome is a small