Tay-Sachs Disease

Zain Bando

Tay-Sachs Disorder

A diagnosis of Tay-Sachs disease of a friend or family member could be overwhelming news to hear. This rare, genetic disorder has devastating consequences where the baby's development slows down over time and eventually leads to death by 5 years of age. Below you will find answers about treatment, research, inheritance and support.

Inheritance

Tay-Sachs is a genetic disorder that gets worse over time and is a recessive gene that is only inherited when both parents carry a Tay-Sachs gene. The fatal disease is more commonly linked to European Jews, French-Canadian, Cajuns of Louisiana and Irish Americans. That being said, this is a very rare disorder, only 16 cases a year are diagnosed in the United States.
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What percent chance is there of getting Tay-Sachs?

If the both parents are carriers, the baby has a 25 percent chance of getting the disease through a recessive gene from each parent. To find out if you are a carrier, you can have a simple blood test. If you are at high-risk, this information will be important.

What chromosome is it found on?

The disease is found on both X and Y chromosomes because both parents must be carriers of the disease.

Current Research

Currently scientists are still in search of a cure for this disease. As of 2013 there is no cure. Stem-cell research is a new type of research that many scientists believe will lead to a cure for Tay-Sachs disease by introducing bone marrow cells into the person that has the disease. In theory, the scientists believe that if new healthy cells multiply during the stem-cell treatment, then there is a possibility that it can be cured if it produces the hex-A enzyme. This research is being done by M.D Brain Kirmse in Washington, D.C.

Symptoms of Tay-Sachs

Children diagnosed with Tay-Sachs develop normally the first 3 to 6 months of life. As the disease worsens, the symptoms become very significant including blindness, deafness, cognitive decline, loss of ability to swallow food, and muscles degenerate due to paralysis.

Treatment and Therapy

Some treatments that are being done is Stem-Cell research and gene therapy. Gene therapy is basically taking a gene that is normal and that has the disease and transferring it into cells that are different and do not have the genetic disorder. It is still a work in progress to see if the treatment will work but it will take a little while to perfect the treatment. Since Tay-Sachs progresses so quickly with the symptoms, it may be necesarry for your child to start having physical therapy in order to reduce the pain and relax the muscles to help reach maximum comfort level in the body.

Overview

As explained above, Tay-Sachs is a devastating fatal disorder that is inherited when both parents are carriers of this recessive gene. You can help support the search for a cure by becoming an advocate for families facing this disease. Organizations such as NORD(National Organization for Rare Disorders) continue to work to raise awareness and find treatments.
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Fair Use Statement

This presentation contains copyrighted material under the educational fair use exemption to the U.S. copyright law. It has been prepared according to the multimedia fair use guidelines and is restricted from further use.

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Fair Use Statement

This presentation contains copyrighted material under the educational fair use exemption to the U.S. copyright law. It has been prepared according to the multimedia fair use guidelines and is restricted from further use.