48 Friday, May 10, 1985 THE DETROIT JEWISH NEWS TAIT S ACHS: The Genetic Killer I t wasn't easy for Gary and Bob- bie Miller of Weit Bloomfield to have two healthy children. Gary, a certified public ac- countant, and Bobbie, a realtor associate, are both carriers of a Tay- Sachs gene. The Millers have a one- in-four chance that each pregnancy will result in a child afflicted with Tay-Sachs. Tay-Sachs is a genetic disorder in which there is an abnormal accumula- tion of fatty materials in the cells of the brain,.resulting in the gradual de- struction of the brain. Just when a child begins to sit up at five or six months old, he gradually regresses. By 16 months, the child has frequent con- vulsions and is blind. At 21/2 years, this listless child can no longer swallow food, and is fed through plastic tubes. By the time the child is 4, he succumbs to a gradual death with no memories of a normal existence. There is no cure for this tragic, fatal disease which is 100 times more common in the Jewish Askenazic (cen- tral and eastern European ancestry) population than in the non-Jewish cul- ture. One in 25 Askenazic Jews are carriers. But both parents must be car- riers to produce a Tay-Sachs child. , According to Dr. Lester Weiss, di- rector of the Medical Genetics and Birth Defects Center at Henry Ford Hospital and the Detroit Metropolitan Area Tay-Sachs Screening Program, one in 900 Jewish couples are at risk. There are possibly 20 couples in the Detroit area at risk, based on the Jewish population of 65,000 with 22,000 of child-bearing age. High-risk couples, like the Mil- lers, have a 25 percent chance of pro- ducing a Tay-Sachs child. All healthy offspring of high-risk couples have a 50 percent chance of being a carrier. Carriers show no signs of Tay-Sachs disease or any other disorder. Tay-Sachs disease has been kil- ling children for centuries. The disease was first isolated by Warren Tay, a British opthamologist in 1881. The findings were expanded in 1896 by Bernard Sachs, an American neurologist. A major breakthrough oc- Some simple tests have reduced the incidence of this mainly 'Jewish' disease. BY CARLA JEAN SCHWARTZ Special to The Jewish News curred in 1969 when Dr. John O'Brien and Dr. Okada, of the University of California at San Diego, discovered that Tay-Sachs is caused by a missing enzyme called Hex-A. Although there is no cure for the disease, there is hope. • The hope is prevention. A simple blood test can determine a carrier. For high-risk couples, a prenatal diagnosis is available through amniocentesis. This is a relatively safe and simple procedure. About the 16th week of pregnancy a needle is inserted into the uterus, drawing out amniotic fluid — the fluid that surrounds the fetus. Fetal cells grown in cultures will iden- tify if the unborn child has Tay-Sachs. The results take two-four weeks. An experimental procedure called chorionic villus sampling (CVS) pro- duces results in one-two weeks. In CVS, tissue is taken from the placenta about the tenth week of pregnancy. The only group in Michigan permitted to perform CVS by the Federal Drug Administration is supervised by Dr. Mark I. Evans, Director of obstetrics and gynecology at Wayne State Uni- versity, based at Hutzel Hospital. Dr. Ralph Cash, chief of pediatrics at Sinai Hospital of Detroit, has seen several Tay-Sachs children in his practice but not recently. "The disease itself could be wiped out completely by means of Tay-Sachs screening," states Cash. Genetic counseling and am- niocentesis tests enabled the Millers to have two healthy children. Without any knowledge of Tay-Sachs disease, there would have been another Miller child — a child whose life would have been dramatically shortened by a genetic killer — Tay-Sachs disease. Bobbie and Gary Miller first heard about Tay-Sachs disease ten years ago when Gary's sister- partici- pated in a Tay-Sachs screening pro- gram conducted by Sinai Hospital of Detroit, the Genetic Counseling Clinic of Henry Ford Hospital and the Jewish Community Foundation. This mass screening program has tested nearly. 6,000 people in the metropolitan De- troit area. Gary's sister was identified as a carrier, and she was advised to contact all relatives to ask them to be tested. The Millers knew they wanted to have children and a few months later they participated in a mass screening. They were told that the results were in a "gray area" and they needed to be retested. "We knew something was up, but we didn't want to think the worst, so we sort of naively said, 'Well, we're in this gray area,' " recalls Gary. For the retest, the Millers went to the Henry Ford Genetic Counseling Clinic. Bob- bie remembers that five vials of blood were taken — several more than at the mass screening. A few weeks later, Gary received a phone call from Dr. Weiss, informing him that he and his wife were both carriers. "Immediately, I felt like someone shot me. I was shaken," said Gary. The shock carried to the entire Miller family. Siblings and cousins were tested and other carriers were discovered. For the Millers, the results meant genetic counseling. It also meant that every pregnancy would be clouded with anxiety. But, Dr. Weiss reassured the Millers that they could have a healthy baby. "We felt from an intellectual standpoint so fortunate that they had the testing and that we did not have to experience this without knowing," says Bobbie. Nine years ago Bobbie Miller had amniocentesis with her first preg- nancy. Waiting almost four weeks for the results was very difficult. "It is a tremendous mental burden," says Dr. Donald Blitz, the Miller's gynecologist and obstetrician for the last ten years. When the Millers received the results of no evidence of Tay-Sachs disease, they were ecstatic. The next pregnancies were not so smooth. Four years later, Bobbie had a miscarriage. "My gut feeling was that the miscarriage was my Tay-Sachs baby and everything was going to be wonderful," said Bobbie. But her intuition was wrong. Her next pregnancy was within a few months of the miscarriage, and the amniocentesis test showed Tay-Sachs disease. The Millers' next decision was carefully planned. This was a decision they had discussed for nine years, but never had to make. Gary Miller cannot discuss the experience. It is a blur — a fuzzy mem- ory that he never wants to remember. For Bobbie, it is a memory that will never leave her. She had a therapeutic abortion in the 22nd week of her preg- nancy. Between silence and tears Bob- bie says, "I have a lot of compassion for a woman who has delivered a stillborn. It is a tremendous loss and a difficult experience." But Bobbie is a determined and optimistic person. After what she de- scribes as a "mourning period," she knew she was ready to try again. And everything went perfectly. The Millers have another healthy, beautiful child.