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Explain Tay-Sachs disease. Imagine you are a genetic counselor working with a couple who have just had a child who is suffering from Tay-Sachs disease. Neither parent has been tested for Tay-Sachs disease nor have there been any previous cases of Tay-Sachs in either family. Explain Tay-Sachs disease and provide a discussion of the information you would share with the couple about Tay-Sachs and possible implications for future children.
Genetic counseling is the process of:
• evaluating family history and medical records
• ordering genetic tests
• evaluating the results of this investigation
• helping parents understand and reach decisions about what to do next
Genetic tests are done by analyzing small samples of blood or body tissues. They determine whether you, your partner, or your baby carry genes for certain inherited disorders.
Tay-Sachs is an inherited disease that only occurs when both parents carry a Tay-Sachs gene and each parent transmits the defective gene to their child. A child who inherits two Tay-Sachs genes (one from each parent) produces no functional Hex-A enzyme and is certain to develop Tay-Sachs disease.
A person with only one Tay-Sachs gene is perfectly healthy, but is a Tay-Sachs carrier. When both parents are carriers, there is a 1 in 4 (25%) chance, with every pregnancy, of having a child with Tay-Sachs disease. When both parents are carriers, there is a 2 in 4 (50%) chance, with every pregnancy, of having a child who is a carrier. When only one parent is a carrier, there is no chance the child will have Tay-Sachs disease? There is a 2 in 4 (50%) chance, with every pregnancy, of having a child who is a Tay-Sachs carrier.
The most common form of Tay-Sachs disease becomes apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows and muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling. They also develop an exaggerated startle reaction to loud noises. As the disease progresses, children with Tay-Sachs disease experience seizures, vision and hearing loss, intellectual disability, and paralysis. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Children with this severe infantile form of Tay-Sachs disease usually live only into early childhood.
Other forms of Tay-Sachs disease are very rare. Signs and symptoms can appear in childhood, adolescence, or adulthood and are usually milder than those seen with the infantile form. Characteristic features include muscle weakness, loss of muscle coordination (ataxia) and other problems with movement, speech problems, and mental illness. These signs and symptoms vary widely among people with late-onset forms of Tay-Sachs disease.