What is Sanfilippo?
Sanfilippo Syndrome is one of seven Mucopolysaccharide disorders and is also
known respectively as MPS-III. There are four different enzyme deficiencies
that cause Sanfilippo. The Sanfilippo disorders are described as type
A, B, C, or D. There is very little difference between the four types, though
there have been a few very mild cases of the B form reported where the children
have remained relatively healthy into early adult life.
What is the result of Sanfilippo?
Children with Sanfilippo are missing an essential enzyme that breaks down a
complex body sugar called heparin sulfate. This sugar slowly builds in the
brain, stopping normal development and causing hyperactivity, sleep disorders,
loss of speech, mental retardation, dementia and finally death by age of 10-15
years. There is no cure yet, only hope.
Sanfilippo makes it to "Prime time"
Ventura boy's rare illness on `ER'
Scripps-McClatchy Western Service
VENTURA
-- Wendy Slattery's crusade to raise public awareness about her 5-year-old son's
rare terminal illness has hit prime time, with the NBC television series ``ER''
tackling the illness on an upcoming episode.
The
Ventura woman, whose son Andrew was diagnosed last year with Sanfilippo
syndrome, served as an unpaid consultant to the show, which was taped recently
in Burbank.
Sanfilippo
is a genetic disorder in which sufferers lack an enzyme necessary to process an
essential sugar in the body. The unprocessed material builds up in the brain,
causing a gradual breakdown of the nervous system. There is no cure for the
illness, which gradually steals the child's motor and brain functions and
usually leads to death between the ages of 5 and 10.
Andrew,
who is now falling and having seizures, turned 5 in July.
Slattery
provided details about the disease and the characteristics of sufferers so
actors, directors and prop specialists could portray the patient realistically.
``They
basically asked 100 questions about Sanfilippo,'' Slattery said Monday.
Questions included: Would a Sanfilippo victim watch TV? If so, what shows? What
would comfort the patient?
She
is elated that the disease and its difficult symptoms will get widespread
attention on television. ``The possibility of anyone discussing Sanfilippo
during my son's lifetime is just not going to come again,'' she said.
Slattery
said ``ER'' prop man Rick Kerns contacted her for help when he read about
Andrew's plight in a newsletter published last month by Tri-Counties Regional
Center, which serves developmentally disabled patients and their families in
Santa Barbara, Ventura and San Luis Obispo counties.
A
14-year-old girl with the disease will be featured on the episode of ``ER,''
which airs Thursday nights, scheduled for April 6. In the episode, the disease
is in its final stages, and the girl comes into the hospital catatonic, said
Slattery, who has a copy of the script.
This is an article from the San Jose Mercury News.
Sunday Feb. 27th 2000
