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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...

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