Tay-Sachs Awareness Month in Oregon

By BONNIE DAVIS

article created on: 2008-11-01T00:00:00

Gov. Theodore Kulongoski has proclaimed November 2008 to be Tay-Sachs Awareness Month in Oregon.

Tay-Sachs and its allied diseases occur more frequently in the Ashkenazi Jewish population. This State proclamation comes just two months after both the United States Senate and the House of Representatives passed a bill proclaiming September 2008 as National Tay-Sachs Awareness month.

This is big news for families such as mine, who have been touched by one of these tragic diseases.

This issue is so important to me because my son, Adam, died from Tay-Sachs disease on Aug. 28, 2001, at 2½ years of age. Much of Adam’s short life was spent introducing people to Tay-Sachs disease for the very first time. It is my desire to continue his work by spreading Tay-Sachs Awareness throughout the state of Oregon.

Tay-Sachs families have sought and received State Proclamations in more than 15 states, and Oregon is now on that list. Please join me in helping to raise awareness in our state.

Tay-Sachs disease is a fatal genetic degenerative disorder in children that causes progressive destruction of the central nervous system. It is caused by the mutation of a single gene (Hex A). Hex A is a vital enzyme needed by the brain to process waste. The waste accumulates in the lysosomal storage (LS) areas of a cell. As the storage area becomes overwhelmed, the brain cells begin to swell, malfunction and ultimately die.

In addition to being a lysosomal storage disease, Tay-Sachs also is classified as an autosomal recessive disease. This means that both parents must carry the gene, and the child must inherit a copy of the defective gene from both parents to be affected by the disease.

The disease is most common in the Jewish community. In the Ashkenazi Jewish population, 1 in 27 people carry the Tay-Sachs gene. The same carrier rates exist among Louisiana Cajuns and French Canadians.

Overall, 1 in every 250 people in the general population (including Sephardic Jews) carries the Tay-Sachs gene. Most have no knowledge of the disease and the death sentence it can carry for their children. In the state of Oregon, that means over 14,000 residents carry the deadly gene mutation.

Until a treatment or cure is found, the only way to prevent Tay-Sachs is through carrier screening and identification of couples who are at risk for bearing a child with the disease—before a tragedy occurs. Increased awareness will help educate our community about the risks they may face. Screening involves a simple blood test.

Babies with Tay-Sachs appear normal and healthy at birth. As waste products accumulate in the brain, development slows, there is a loss of vision and an exaggerated startle response. By about 2 years of age, most children experience seizures, diminishing mental function and loss of all motor skills. Other symptoms include progressive inability to swallow and breathing difficulties. Eventually the child becomes blind, mentally retarded, paralyzed and nonresponsive to his or her environment.

A child suffering from Infantile Tay-Sachs has an average life expectancy of 2 to 5 years. Tay-Sachs disease is always fatal in children. There is currently no treatment or cure for this disease.

Scientific research in the Gene Therapy field has advanced to a point where an international consortium of researchers believe a treatment or cure is possible in the near future. This group, called the Tay-Sachs Gene Therapy Consortium (www.tsgtconsortium.com), has launched a three-year Project—costing $1.5 million—leading to clinical trials.

Organizations such as The National Tay-Sachs and Allied Diseases Association (www.NTSAD.org) and The Cure Tay-Sachs Foundation (www.CureTay-Sachs.org) are working to raise funds for support of families living with affected children and the scientific research being conducted. Raising awareness will also help to raise much-needed funds for these non-profit organizations.