“Genetic Counseling”


Smiling Nurses


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Explain Tay-Sachs disease. Think of yourself as a genetic counsellor who is helping a couple whose newborn has Tay-Sachs illness. There are no known cases of Tay-Sachs disease in either family, nor have either parent’s parents undergone Tay-Sachs testing. Provide a description of Tay-Sachs illness and a discussion of the knowledge you would impart to the couple regarding Tay-Sachs and potential repercussions for future offspring.
Your task should be between 250 and 500 words long.
It will be checked for originality using TURNITIN.


Expert answer

Tay-Sachs disease is a hereditary disorder. A infant who inherits two damaged HEXA genes, one from each parent, develops Tay-Sachs. Failure to achieve motor milestones, like as sitting and standing, is one of Tay-Sachs disease symptoms. Tay-Sachs infants frequently pass away at a young age. You can make decisions about family planning with the aid of genetic testing.The brain and spinal cord’s nerve cells are affected by Tay-Sachs disease. Babies with Tay-Sachs lack a specific enzyme, a protein that starts chemical processes in cells. A fatty material builds up when hexosaminidase A is absent. Tay-Sachs symptoms like muscle weakness are brought on by the accumulation of this molecule, GM2 ganglioside.

Keeping your child comfortable and managing their symptoms is the greatest approach to take care of them. Many Tay-Sachs youngsters experience respiratory difficulties. They may have lung infections as a result of their excessive saliva production and swallowing issues. Your youngster may be able to breathe more easily with the aid of certain drugs, tools, or body positions.
Nutrition: A speech-language therapist can assist the child in developing eating and drinking habits. The youngster might need a feeding tube as swallowing becomes more difficult. 
Children with Tay-Sachs syndrome experience certain sensory abnormalities . To help engage their senses, the parents can try music, glittery mobiles, calming smells, and soft materials. Controlling seizures is also very important for the baby


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