Tay-Sachs Disease (TSD) is a fatal genetic disorder that causes a lipid, or fatty substance (GM2-ganglioside), to build up in the brain. It is one of several such lipid storage diseases. When the disease occurs, the result is a persistent regression of mental and physical abilities – a regression that takes victims from normal development to senility and death in a matter of a few years.
In the large majority of cases children who inherit TSD see the symptoms begin to manifest at about six months old and die before the age of five years. In a much smaller percentage of cases symptoms don’t begin until the middle school years; in such cases of juvenile-onset TSD death usually comes by age 15. In a few rare cases, the disease does not become evident until the victim’s mid-20s; such adult-onset cases follow much the same course and result in death within a few years of onset.
What are the symptoms and the course of the disease? In the majority of cases, the results of TSD are best describes as progressive mental and physical retardation. Skills and milestones that have been reached in the first six months of life disappear, progress toward future milestones is slowed (retarded) or stopped. With juvenile and adult-onset the disease is just as debilitating, but the term “retardation” is probably not technically appropriate because of the number of milestones and benchmarks achieved at a normal rate before onset. That technicality makes the disease no less tragic or debilitating.
Who gets Tay-Sachs? Like many genetic disorders, TSD is concentrated in specific communities defined by endogamous cultural and ethnic patterns. Statistics from genetic screening programs in Melbourne, Australia, have produced estimates to the effect that about one in every 28 Eastern European (or “Ashkenazi”) Jews carries the TSD gene. Greene estimates the prevalence to be higher – one in 25 in the Ashkenazi community – but does not specify a geographic sample. A study in population genetics carried out in 1983 found that among North American Jews, one out of ever 31 members of the ethnic group carried the Tay-Sachs gene. Jews of Austrian, Hungarian, and Czechoslovakian origin were twice as likely as Jews of Polish or Russian family origin to carry the Tay-Sachs gene. While TSD is most common among Eastern European, or Ashkenazi, Jews, about one in 45 Moroccan Jews in North America carried the gene. By comparison, TSD is about 100 times more common within the Ashkenazi Jewish community than it is outside the community.
What treatments are available? No cure exists for TSD. Prevention is possible through genetic screening. There are relatively simple tests that will tell an individual whether they carry the gene for TSD. Enzyme replacement therapy is in exploratory stages at the moment and may offer promise for the future; it is currently costly and cumbersome, though. The development of gene replacement therapy is currently a distant hope. Nationally, there are very limited resources for families who have children afflicted with this disease.
Sadly, the implications of Tay-Sach’s symptoms for education are usually simple: victims rarely live long enough to enter the education system. For those with infantile-onset Tay-Sachs who live to school age, out of school environment educational services usually offer the only choice; and with death only a few months away, most parents aren’t concerned with their child’s educational alternatives.
In those rare cases where juvenile-onset occurs, the student will certainly need the support of special education staff to remain in school. For as long as it is possible the student’s right to remain in school with peers and to receive an education is well established.