Matthew's Sister

Rachel M. Williams

 

 

 

 

 

 

 

 

 

ANGELMAN SYNDROME

As presented by Rachel M. Williams
October 13, 2000
At
Brevard Community College, Cocoa, Florida

My family received a most unique gift one Christmas Day. After three years of trying to find out why my brother, Matthew, was not developing mentally and physically, we met my uncle, Dr. Charles Williams, at a family Christmas gathering. He immediately took us, on Christmas Day, to the University of Florida's genetics research department and diagnosed my brother on the spot. Matthew had Angelman Syndrome. As it turned out, Uncle Charlie specialized in the genetics of Angelman Syndrome.

Today I would like to inform you a little about Angelman Syndrome. In the twelve years my brother was alive, I learned a great deal about the scientific nature of this condition as well as how to care for an individual with Angelman. I would like to share some of this information with you by first explaining the history of Angelman Syndrome, as well as a brief description of the characteristics, and finally the role Angelman Syndrome played in my life.

English physician, Dr. Harry Angelman, diagnosed Angelman Syndrome in 1965. According to an article by Dr. Angelman entitled, "Puppet Children: A Report on Three Cases," he described three children admitted to his children's ward in England. At first, they seemed to be suffering from different conditions, but he felt there was a common cause for their illness. He described all three as having stiff, jerky movements, no speech, excessive laughter, and seizures. His diagnoses were purely clinical because in spite of technical investigations, which today are more refined, he was unable to establish scientific proof that all three children had the same condition.

Dr. Angelman originally titled this condition, "Puppet Children," as a result of the impression that a painting left on him when he visited the Castelvechio Museum in Verona. The title of this painting was "Boy With A Puppet." The boy's laughing face and the fact that his patients exhibited puppet-like, jerky movements gave him the idea of "puppet children." But it was not a name that pleased all parents, so the name was later changed to "Angelman Syndrome." Many parents now refer to their children as "Angels."

Angelman Syndrome is a rare disorder of which I'm sure many of you have not been acquainted. With letters to the late Lawton Chiles from parents, including my mother, he proclaimed December 24, 1997, as "A Day For Angels: Angelman Syndrome Awareness Day."

According to combined information from an interview with Angelman parent, Mary Williams, and an article by Charles Williams, M.D., from the 1995 American Journal of Medicine, there are many characteristics associated with Angelman Syndrome. I will separate them by intellectual, behavioral, and then physical characteristics.

The intellectual characteristics of individuals with Angelman Syndrome include:

  • An inability to speak; however, they do comprehend the speech of others.
  • It is not possible to get an accurate IQ due to their inability to express what they know.
  • They are not cognizant of danger and are avid "explorers."
  • A few are able to perform small tasks, but for the most part they are extremely developmentally delayed and will be dependent on others for the span of their lifetime.

    • Their behavioral characteristics include:

  • They are socially engaging and affectionate.
  • They exhibit frequent smiling and laughter.
  • They have marionette-like movement of their extremities.
  • They have an extreme love of water.
  • They love to stick their fingers and heads into things.
  • They do not have regular sleeping patterns and many parents suffer from sleep deprivation.

    • Lastly, their physical characteristics include:

  • Some are microcephalic, meaning they have a smaller than normal brain due to lack of proper development, and as a result, a smaller than normal head circumference.
  • They may have severe vision problems due to a "disconnect" from the optic nerve to the brain called optic nerve hypoplasia. Their eyes, themselves, are formed properly and are healthy.
  • They may suffer from ataxia, which is a lack of balance, which often keeps them from walking, or walking at the appropriate age.
  • They also exhibit hypotonia, which is a lack of muscle tone.
  • They tend to be physically attractive although their appearance changes as they mature due to oral-motor hypotonia, which is poor facial muscle tone.
  • They tend suffer from seizure disorders that are often difficult to control with drugs.

    • All of this is due to a problem with Chromosome 15, which can manifest itself in several ways. This diagnosis can be determined and confirmed with blood tests. It is generally not hereditary, although all is not known regarding the dynamics of the creation of the chromosomes at conception. As with all children, Angelman Syndrome individuals may differ greatly one from another.

    Having a brother with Angelman Syndrome helped to make me the person I am today. I learned that handicapped people are special people. Angelman children are especially loveable, and they know no malice toward another.

    I matured a lot sooner than most people my age because of my brother. I helped raise Matthew. I dealt with every aspect of his life including feeding, bathing, playing with him, and being involved with the educational and legal aspects of his care. I helped with the monitoring of his seizures and sometimes our family would sleep in shifts. I attended numerous doctor and hospital visits, school board meetings, school board committee meetings, and IEPs with my mother and I visited his classroom regularly. Matthew also attended my Choral Concerts and many of my activities. He even accompanied me to rock concerts. We also traveled many places together.

    Matthew is one of the most important parts of my life even after his death four years ago at the age of twelve. The combined characteristics of Angelman Syndrome caused him one morning around 4:30AM to "explore" a reclining chair. He opened the footrest, stuck his head into the open space between the footrest and the chair, and with his jerky movements, inadvertently closed the footrest on his neck, cutting off his airway and he suffocated.

    I hope that with my presentation you have gained an understanding of this unique condition. I will end with the phrase from "Everything We Needed To Know We Learned From An Angel," by Alice Evans and Julie Hyman. "Just because a person can't speak does not mean he has nothing to say."

    Contact Matthew's Sister:

    Rachel Williams
    P.O. Box 10171
    Cocoa, Fl. 32927-8518

    Email: razehell@castlegate.net

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