Tuesday, 4/15/97 Free testing for Tay-Sachs gene given at UCLA
all this week Fatal disease of infancy can be passed through
healthy parents
By Peggy Shen Daily Bruin Contributor The Tay-Sachs test is one
exam UCLA students do not want to avoid. Taking a few minutes of
time now can prevent a future tragedy. This week, the California
Tay-Sachs Disease Prevention Program is offering free testing at
UCLA for detection of the Tay-Sachs gene to help prevent this
terrible genetic disease. Tay-Sachs is a fatal recessive genetic
disease of infancy caused by the presence of two abnormal copies of
a gene, known as the Tay-Sachs gene. Infants who inherit two copies
of the Tay-Sachs gene appear normal and healthy at birth, but
usually do not live more than five years and never reach adulthood.
Individuals inherit the Tay-Sachs disease from parents who are both
carriers of the Tay-Sachs gene but remain completely healthy
themselves. Thus, carriers may be totally unaware that they are
putting their children at risk for the disorder; each child has a
one in four chance of inheriting Tay-Sachs disease from two carrier
parents. While the Jewish population has a much higher carrier rate
of the Tay-Sachs gene compared to the general population – one out
of 27 as opposed to one out of 150 – Barbara Luftman, coordinator
of the Tay-Sachs program in Los Angeles, said, "It crosses all
country of origin barriers. The most important message is that
anyone can get the disease." Pam Munro, a professor of linguistics
at UCLA, can also cite many families of different ethnic groups
that she knows have had the disease, including her own. Her son,
Alex Munro, died of Tay-Sachs disease when he was eight years old.
"I never thought of this as something that would affect me," Munro
said. "I believed this was a disease only Jewish people got, and I
am not Jewish and my husband is not Jewish." Nevertheless, Alex
Munro was diagnosed with Tay-Sachs by a neurologist when he was
quite young. Tay-Sachs children lack an enzyme that breaks down
fatty material in the brain. These fats reach dangerous levels at
six-to-eight months of age and eventually invade the nervous system
causing the symptoms and finally death. Symptoms of the Tay-Sachs
disease include loss of motor skills, blindness, deafness, mental
retardation, seizures, inability to swallow and progressive
unresponsiveness to parents and environment. Alex Munro had the
symptoms of Tay-Sachs disease but was unusual in that he lived
longer than the normal five years, although his quality of life
remained very low, according to Munro. "We loved him very much, but
he really was not a normal child," said Munro. "It is just a
terrible disease – it is a death sentence," Munro said. "I would
not want this to happen to my worst enemy, and that is really
true." "There is no cure, no treatment," said Luftman, adding that
it will probably come through genetic manipulation, but not at this
time. Therefore, it is presently through education and testing that
the disease may be prevented, according to Luftman. "We are
mandated by the state of California to go around to colleges and
offer the testing for free," Luftman said. Tay-Sachs tests are
normally $75 at Tay-Sachs Disease Program clinics, and are not
available through physician offices, private laboratories or as
part of the blood test required before marriage. "This way people
know when they do have children that they are carriers," Luftman
said, adding that "there has not been a time at UCLA when we did
not pick up some carriers." Marta Vakulenko, a student council
member of Hillel, an organization which is co-sponsoring the
Tay-Sachs testing, said "I think we are the proper organization to
be doing this because it affects Jews more than anyone else, but we
are still trying to make everyone aware." The Jewish Student Union
and USAC’s Student Welfare Commission are the other co-sponsors of
the event. Munro said she wants to encourage people to know about
the threat of the disease and the wonderful opportunity of getting
free testing at UCLA. "If you find out you are a carrier then you
won’t have to have this happen to you," Munro said. "The way I
found out I was a carrier was not through being tested in a nice
pleasant atmosphere … at Ackerman Union" she said. "The way I
found out was when the doctor said ‘Your son has Tay-Sachs disease
and is going to die and you are a carrier.’" Tay-Sachs testing is
offered today, Wednesday and Thursday in Ackerman Union from 10
a.m. to 2 p.m. and at Dykstra Hall Tuesday from 5 p.m. to 7 p.m.
External Links:
Info on taysachs from the National Institutes of Health