tay sachs

Topics: Genetic disorder, Tay-Sachs disease, Mutation Pages: 1 (323 words) Published: October 7, 2014
First I would like to say that Im very sorry to have to Inform you that your child has Tay- Sachs disease. I am here to inform you on the of the basic information on these disease and where we go from here. Tay-Sachs disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. 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. Your child may lose some or all motor skills such as turning over sitting and crawling. As the disease progresses as the child gets older, children with Tay-Sachs disease may experience seizures, vision and hearing loss, intellectual disability, and paralysis. I must inform you that children with a severe case of Tay-Sachs disease usually do not live past early childhood. There are a few other forms of Tay-Sachs disease. Characteristic may 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 Now neither one of you have any history of Tay-Sachs Disease but I would like to get you tested because after extensive research I have learned that this condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. If you both test positive I would recommend that you do not have any more children, but that’s just a recommendation. Are there any questions for me at this time? Tay=Sachs disease Simple English Wikipedia
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