Tay-Sachs testing offered free of charge on campus
By Daily Bruin Staff
April 25, 2001 9:00 p.m.
By Linh Tat
Daily Bruin Senior Staff Today is the last day members of the UCLA
community can take advantage of the annual free Tay-Sachs disease
testing offered on campus. The testing, which will take place in
Ackerman Union’s Viewpoint Conference Room between 10 a.m.
and 1:30 p.m., normally costs $75 at the UCLA Medical Center but is
being offered free of charge through the Student Welfare
Commission. Since Tuesday, 102 people have been tested, said
Barbara Luftman, coordinator of the California Tay-Sachs Disease
Prevention Program. Last year, the program saw about 130 students
at UCLA, she said. Named for doctors Warren Tay and Bernard Sachs,
the disease occurs when an enzyme called hexosaminidase A, or
Hex-A, is absent in the body. Without the enzyme, the fatty
substance known as ganglioside cannot be broken down in nerve cells
of the brain, thus forcing a build-up of fat that affects the
neurosystem. Tay-Sachs patients suffer from symptoms such as
regressed development, loss of vision, seizures, inability to
swallow or breathing difficulties. Symptoms usually don’t
appear in a baby until about six months old. Most children affected
by the disease die by age five. Such was the case for Alex, the son
of Pamela Munro, a linguistics professor who’s been teaching
at UCLA for 25 years. Alex was nine months old when he was
diagnosed with Tay-Sachs. He never learned to walk or talk and
later lost the ability to swallow. In 1993, at the age of seven,
Alex passed away. “It is just awful to have a child with
Tay-Sachs disease. Not only do you have to watch your child die,
but it also makes it very hard for you to care for this
child,” Munro said. Tay-Sachs is an inherited disease
determined by a pair of genes on the 15th chromosome, which codes
for Hex-A. Those without Tay-Sachs have two dominant, or active
genes that produce the enzyme. Carriers of the disease display one
dominant and one recessive or inactive gene, while those with the
disease carry two recessive genes. Unless tested, a person may
never be aware they are carrying the recessive gene. “I
didn’t find out that I was a carrier until my doctor told me
my child wasn’t going to live,” Munro said. “This
was a horrible way to find out that I was a carrier.”
Tay-Sachs carriers stand a 50 percent chance of passing the
recessive gene on to their children. Those whose parents are both
carriers have a 25 percent chance of inheriting the disease. While
anyone can inherit Tay-Sachs, the disease is most prominent among
descendants of Eastern European Jews, French Canadians and the
Cajun community of Louisiana. These groups stand a one in 27 chance
of inheriting the disease, as opposed to one in 250 for other
communities, according to the National Tay-Sachs & Allied
Diseases Association. Lee Lerner, a third-year electrical
engineering student whose mother is a carrier of the disease, said
it’s important for him to learn whether he also carries the
gene. “I just want to get it done so I know,” Lerner
said Wednesday after having a blood sample drawn. “It does
have some sort of effect on my choice of a future wife.”
There is no cure or treatment for the disease, but researchers
continue to offer alternative solutions to beating it. Dr. Jerry
Hall, lab director of the Institute for Reproductive Medicine and
Genetics in Westwood village, offers a procedure that allows
couples who are both Tay-Sachs carriers to ensure their children do
not inherit the disease. The procedure, developed in the United
Kingdom, was launched in January. After first cultivating embryos
through in vitro fertilization, doctors at the clinic hold the
embryo under a microscope, and with a small needle, cut a hole to
retrieve a cell for analysis. Embryos determined to be free of
Tay-Sachs are replanted back into the woman. The entire process
takes three days and costs about $7,000. Potential side effects
include damages to the embryo when the cell is taken out or a
misdiagnosis, Hall said, adding that patients have experienced a 50
percent success rate thus far. “In reality, the side effects
are really not anything to be worried about at this point,”
he said. “It can allow (couples) to have children that will
be free of Tay-Sachs, and that will be the end of it
forever,” Hall said. For more information or testing, contact
the California Tay-Sachs Disease Prevention Program at (818)
881-1061.
TAY-SACHS TESTING PROCEDURE Those who got
tested for Tay-Sachs this week had to fill out a questionnaire and
have their blood drawn. Results won’t be available for another two
to four weeks. Patients fill out a questionnaire. Â A licensed
practitioner draws one vial (approximately one teaspoon) of blood
from the patient. Â Blood samples will be transported to a lab
at the University of California, San Diego on Friday. Â Â
 Vial of blood spins in a centrifuge to separate the serum
from blood cells. The serum goes through a tube into a machine that
measures the level of Hex-A in the patient. Â Patients will
receive their test results in two to four weeks. SOURCE: California
Tay-Sachs Disease Prevention Program Original graphic by ADAM
BROWN/Daily Bruin Web adaptation by HERNANE TABAY/Daily Bruin
Senior Staff
