Tay Sachs: A Progress Report
Mackta, Jayne
the tay sachs risk: a progress report Jayne Mackta The Tay-Sachs child appears normal at birth, although a well-trained eye may detect an exaggerated startle response, over-sensitivity to lights...
...My son is married to a gentile...
...It doesn't hurt to know...
...One in 3000 isn't very many—but when that one is so easily preventable, and when the consequences are so terrible, it's clearly one too many...
...Again, this attempt at education is offered as an answer to unnecessary and irrational guilt, for the burden that carrier status often implies—but need not...
...if an individual has been identified as a carrier, pamphlets are included, counseling is offered, a sample letter to relatives (who may also be carriers) is included...
...both parents must be carriers in order to produce a TS baby...
...a counter productive approach if the individual is taking the initiative to be tested...
...Pressure sores, similar to ulcers, may form...
...Then the real work began, the work of community education...
...In a few years, then, it may be just a little less hard to be a Jew, a little less hazardous...
...Shintaro Okada and John O'Brien finally pinpointed the villain in TS as the absence of Hex A. The blood test for carriers was developed not long thereafter...
...Once such a birth takes place, there is nothing to be done...
...any affection he is shown cannot be reciprocated...
...The child's skin becomes very dry and his complexion yellows...
...But she finally won the needed approval, together with promises for printing, publicity, mailings and access to all the organizations under Federation's umbrella...
...Plus, of course, the fear, the shame, the guilt...
...Jayne Mackta is editor of Breakthrough, a periodical of the National Tay-Sachs and Allied Diseases Association...
...A needle is inserted through the abdominal wall into the uterus of the pregnant woman and amniotic fluid is drawn from around the fetus...
...answering with the same reply, "Why not...
...The landmark year in the fight against TS was 1969...
...Edwin Kolodny, Program Co-Director, and Paula Shindell Dangel, Program Coordinator for Tay-Sachs Prevention in Waltham, Massachusetts, for their energetic assistance in providing material for this article...
...By his first birthday, he is convulsed with minor motor seizures, provoked by external stimuli such as touching and feeding...
...Still, there are cases where program staff have refused to test college-age singles...
...Regardless of method, carriers are encouraged to act upon their information, to have extensive genetic counseling to tell family, and, in the case of "at risk" couples, to plan pregnancies with care...
...The work of Okada and O'Brien, as well as of Drs...
...The editors wish to thank Dr...
...My child is adopted...
...Most important, until quite recently there wasn't much talk about or interest in Tay-Sachs...
...Nonetheless, there is accelerating action...
...There is no cure for Tay-Sachs disease...
...And Kay Katz, President of the National Tay-Sachs and Allied Diseases Foundation (NTSAD) adds that men, especially, are vulnerable to guilt—perhaps because in our society, men are expected to be physically perfect...
...And, of course, there are those whose opposition to abortion is so adamant that even the certainty of a Tay-Sachs birth does not provide adequate justification for a timely termination of pregnancy...
...Again and again they heard the same question, "Why should I be tested...
...In the Philadelphia area, the program is supplemented by a mobile unit used to conduct mini-screenings...
...However, by three to three-and-a-half years even these sounds dwindle...
...Theodore Kushnik of the New Jersey Medical School, the New Jersey chapter of NTSAD, she set out to convince her Federation of its responsibility to sponsor a screening program for its constituency...
...However, compare it to the average $25,000 which it costs to keep the TS child cared for outside the home for one year...
...Federation board members resisted the diversion of funds from Israel and other local services...
...Named for Warren Tay, a British opthalmologist who first described the disease in 1881, and American neurologist Bernard Sachs, who provided the first pathological description, TS is a fatal recessive genetic disorder...
...Fighting Tay-Sachs, therefore, becomes not only a technical problem of setting up the necessary screening programs, but of educating the public and of overcoming the resistance many people still have to considering the possibility that they may be carriers...
...But there is still opposition, and there is still apathy...
...Allen Crocker and Kolodny ask each individual who is tested to first study pamphlets on the disease...
...One out of every 3,000 births or so doesn't sound like very much, and there wasn't much knowledge to work from...
...When the result is determined (usually after a few weeks) letters are sent out...
...Where both parents are carriers, they have a fifty percent chance of producing a carrier (free of the disease, but capable of passing it on to the next generation), a 25 percent chance of producing a TS baby, and a 25 percent chance of producing a TS-free baby...
...But Tay-Sachs can be prevented...
...As the disease progresses, a specific lipid, a fatty substance which is usually broken down by the enzyme Hex A, accumulates so the head size increases disproportionately to the rest of the body...
...A more accurate test of eye fluids is still in the experimental stage...
...At the right time, between 4—5 months, the baby may be able to sit up by himself and turn over in his crib...
...It will be a genuine blessing...
...In Waltham, where testing costs are $20 per person, each participant is asked for voluntary payment of $10—and 70 percent respond...
...Posters and brochures were distributed to physicians and placed in strategic locations...
...The working committee alone was large enough to insure an impressive turnout...
...So there are many instances of men who refuse to be tested unless their wives prove to be carriers first...
...Shapiro had available the method developed by Dr...
...Not quite one year after her work had begun she had the satisfaction of seeing over 1000 of her new friends and old neighbors come to be tested...
...Widespread administration of the test through mass screening programs, although not a cure, could at least identify "at risk" couples and provide them the necessary genetic counseling...
...Accordingly, almost all TS births can—at least theoretically—be prevented...
...A blood test, easily performed, can identify TS carriers and alert them to the risk they face...
...Skilled medical personnel, including the indispensible genetic counselor, must be available as well as proper lab facilities to insure quality control and necessary follow-up...
...Naturally, to do the job well, and to continue to improve the process, there must be adequate funding, and the amount may appear steep...
...Usually, and unfortunately, it takes a parent, grandparent or family friend who has personally witnessed the horror of TS to mobilize an area...
...I'll let my children be tested when they grow up...
...They want their patients to know as much as possible about the disease, to know why they are being tested, to be able to handle negative results...
...In California, State Coordinator Ted Nathan predicts that once the screening process is simplified, TS testing will come to be routinely done in a doctor's office...
...In the prevention program in Waltham, Massachusetts, Co-directors Drs...
...I'm a widow...
...On the day of the screening, there was competition from an ORT rummage sale, a temple carnival and carwash, a golf tournament, and the allure of area swim clubs...
...At a time when most of the problems we face are "big," the kind that can't easily be solved, the kind whose solutions are unknown—peace in the Middle East, family dissolution, cults, whatnot—it is something of a relief to be able to do away with a genuine killer, to eradicate a heartbreaking and needless tragedy...
...They refused to believe that such a thing could be on their side...
...By 18 months, the child is blind, and has lost his capacity for emotional response...
...Where only one parent is a carrier, there is no risk of the disease—but there is a 50 percent chance that the couple will produce a carrier...
...for one in every eight hundred couples or so, it will be more than good...
...Fran Berkwits, a medical social worker and genetic counselor, has found that it's not uncommon for grandparents to resist the genetic implications of a TS diagnosis...
...In America, one in 28 Ashkenazi Jews is a TS carrier...
...For all that, Tay-Sachs is not very high on the list of Jewish communal priorities...
...after two-and-a-half years or so the baby requires 24-hour care, and home nursing, while helpful in alleviating parental guilt, may go from difficult to physically and emotionally impossible...
...Although important work had been done by Ernst Klenk in 1942, and by Lars Svennerholm in 1962, it was in 1969 that Drs...
...Edwin Kolodny, Roscoe Brady and Bruno Volk, created some less ominous options...
...This procedure, while rather expensive (approximately $500) is nonetheless a routine one...
...For all of us, that will be a good thing...
...Best tested once and let your carrier status, if it is so determined, become part of your medical record like everything else you should know about yourself...
...Skilled TS speakers addressed over 50 groups in the two months preceding the screening, explaining the disease and countering the same apathetic excuses: "I've had my children...
...In some communities, carriers receive phone calls...
...One Jewish physician in Dayton, writing in the New England Journal of Medicine, reports that "the local medical advisory committee decided that the psychic burden on trait carriers was too high a price to pay for the prevention of a single case of Tay-Sachs disease...
...The child usually dies before he reaches his fifth birthday...
...Feature articles appeared, with the heaviest push in Anglo-Jewish publications...
...These programs cost between $30,000 and $60,000 to run and, not infrequently, are funded privately...
...It wasn't easy...
...Personal contact was reinforced by a saturation campaign in the media, interviews on radio and local TV...
...If there is an absence of Hex A in the amniotic fluid, a TS baby is in the offing— and, if the test has been conducted before the 16th week, the pregnancy can be legally terminated through a therapeutic abortion...
...When the doors of the centrally located synagogue opened at 10 a.m...
...And couples who carry the TS risk can, with careful monitoring, hope to conceive a healthy, normal child...
...The voluntary fee, then, can be viewed as a form of medical insurance...
...Paula Rosenbloom in Toledo, Judith Saperstein and Patricia Erlich in New York...
...And it is also true that the routine serum test is not infallible, enzyme levels are affected by chronic ailments, heart disease, birth control pills...
...In fact, he is doing less than he did two months earlier...
...It is difficult to do genetic studies with only half of the reproductive pair...
...Rabbis spoke about TS from the pulpit, sent out letters to congregants, reminded couples who came for premarital counseling...
...Happily, however, the benefits of early detection far outweigh the stigma that may accompany the disease, the more so the knowledge that one is a carrier...
...Here Mrs...
...In central New Jersey, it was Irene Shapiro, an informed person with endless energy, who took on the project...
...Shapiro is a public relations expert with a history of running volunteer committees and getting difficult jobs done...
...they could divorce...
...True enough: 82 percent of TS children are born into families with no prior history of the disease, hence no knowledge that they have been carriers...
...Until the development of the blood test, couples that had produced TS babies had a very limited set of alternatives...
...They could decide to have no more children, to adopt, to consider artificial insemination...
...Posters went up, fliers went out, phones were activated...
...The prevention process itself has been developed with precision and so can be duplicated anywhere there are Jews to be screened...
...Between 20 months and two years, the child loses voluntary movement, although he is still startled by sounds...
...This process is particularly important for the singles who wish to be tested, because, until they decide to bear children, there can be no adequate resolution of their status...
...An absence of the vital enzyme hexosaminidase A, Hex A for short, results in the destruction of the central nervous system...
...Michael Kaback, the man responsible for the first major TS screening, held in Baltimore in 1971...
...But by the time the baby is 6 to 10 months old, when he could be crawling, he is not...
...The mayors who were involved declared the testing Sunday "Tay-Sachs Day" for their respective communities...
...No child ever died of TS in our family before...
...It can take up to four hours to feed a Tay-Sachs baby a cup of applesauce and a bit of protein...
...One TS mother reported that her husband and his family blamed her alone for the death of their daughter...
...So where's the problem...
...The test takes a few minutes, an ounce of blood is taken from the arm, and the patient is sent home...
...on the long-awaited May Sunday, Irene Shapiro had trouble seeing past the crowds to the policemen directing cars into the parking lot...
...a lopal physician proclaimed that "everybody already knows about Tay-Sachs...
...the tay sachs risk: a progress report Jayne Mackta The Tay-Sachs child appears normal at birth, although a well-trained eye may detect an exaggerated startle response, over-sensitivity to lights and sounds...
...Kushnik addressed hospital staff meetings and medical groups...
...Then, in 1970, a year before the first major screening, Drs...
...What follows, in conjunction with a personal and medical history, is a kind of "open book exam...
...Fifty thousand Californians have already been tested, and the program in that state includes courses at 32 state and city colleges which use TS as a model for genetic diseases, and its prevention as a prototype for community screening...
...When both parents are carriers (labeled "at risk"), odds are one in four that pregnancy will result in a TS baby...
...they could try to beat the odds in another pregnancy...
...She invited every Jewish organization to participate by scheduling a Tay-Sachs program for its membership, publicizing the screening and supplying volunteers for the many committees...
...If you are a carrier, the rest of your family—sisters, brothers, cousins—should be tested too...
...She studied the dynamics of a TS screening in a neighboring community, and then, in cooperation with Dr...
...Larry Schenck, Carlo Valenti and Volk used amniocentesis to diagnose Tay-Sachs in utero at Kingsbrook Hospital in New York...
Vol. 3 • December 1977 • No. 2
