[Congressional Record (Bound Edition), Volume 146 (2000), Part 16]
[Extensions of Remarks]
[Pages 23048-23049]
[From the U.S. Government Publishing Office, www.gpo.gov]



               RAISING AWARENESS FOR ANGELMAN'S SYNDROME

                                 ______
                                 

                     HON. RANDY ``DUKE'' CUNNINGHAM

                             of california

                    in the house of representatives

                       Tuesday, October 17, 2000

  Mr. CUNNINGHAM. Mr. Speaker, I rise today to discuss Angelman's 
Syndrome after a tragic circumstance in my district illustrated the 
need for greater awareness of this little known and often misunderstood 
disease.

[[Page 23049]]

  Denise and Kyle Marx are parents of Nicholas, a ten-year-old boy with 
Angelman's Syndrome. Those familiar with special needs children know 
the demands, but also the tremendous blessings that Nicholas has 
bestowed on his family. Due to recent events, the need to better 
understand and treat this disorder has become obvious. Today, Nicolas 
is in a coma and has only a few months to live after being administered 
medication that caused an allergic reaction. This happened, in part, 
because those with Angelman's Syndrome are unable to communicate pain 
or discomfort and Nicolas was powerless to express the effects that the 
medication was having on his body. Today, I am asking Congress to make 
efforts to provide for research so that Angelman's Syndrome can be 
better understood and treated more effectively.
  Angelman's Syndrome is a genetic disorder usually caused by a small 
deletion of molecules on the long arm of the fifteenth chromosome. In 
some rare cases, Angelman's can also be caused when a child inherits 
both long arms of the fifteenth chromosome from the father. The effects 
of this disease include speech impairment, with minimal or almost no 
use of words, movement and balance disorder, including a stiff gait and 
tremulous movement of the limbs, behavioral uniqueness, including 
excitability, frequent laughter and smiling, flapping movements, and a 
short attention span. More than 80% of people with Angelman's Syndrome 
have a delayed or disproportionally slow growth in head circumference 
and seizures that begin around the age of three. Many other cases 
include symptoms such as hypopigmentation of the skin and eyes, sucking 
and swallowing disorders, wide mouth, hyperactive tendon reflexes, 
sensitivity to heat, and sleep disturbances.
  One of the most difficult aspects of Angelman's Syndrome is that the 
disease is usually not recognized at birth. Diagnosis often does not 
occur until the child is between the ages of three and seven, when the 
characteristics become evident. Those with Angelman's Syndrome are born 
with a normal prenatal history and no major birth defects.
  It was only 35 years ago that Dr. Harry Angelman, an English 
physician, diagnosed Angelman's Syndrome for the first time. The first 
reports of the disease in North America did not begin to appear until 
the 1980's. Until very recently, many doctors considered Angelman's 
Syndrome to be extremely rare and some even doubted its existence. 
Thankfully, through the Human Genome Project, we have been able to gain 
a better understanding of this disease. However, we still have a long 
way to go until we fully understand Angelman's Syndrome.
  While we now know that Angelman's Syndrome affects anywhere between 1 
in 10,000 and 1 in 30,000, we still have much to learn about the 
disease and its symptoms. Angelman's Syndrome is only diagnosed through 
genetic laboratory testing. However, it is often misdiagnosed and 
mistaken for autism. We need to work toward a better and more 
comprehensive understanding of the disease, its causes, and the best 
way to treat it. It is my hope that through research, we can come to 
understand and effectively treat Angelman's Syndrome and that the 
medical community will develop guidelines for treating patients with 
these conditions.

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