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Tay Sachs Disease Speech

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Hello, Im Dr. Flores. I'm sorry but we believe that your child may be at risk to having Tay-Sachs Disease also known as GM2 gangliosidosis. She does not roll over like most babies, a little weak, and exaggerated responses to sudden noises, and both of you are of eastern and central European Jewish heritage which puts you at a higher risk to having Tay-Sachs. We’re gonna run a few test to confirm if your daughter has it…We’ve received the results back from the lab and i'm sorry to say but you're daughter has Tay-Sachs disease, Some of our test consisted of testing responses to sudden noises and checking for red spots at the back of the eyes. Which your child presented with as you can see in this image.Also blood tests to check if the body is producing the Hexosaminidase-A enzyme or Hex-A for short.…show more content…
Tay-sachs disease is a rare hereditary disease that progressively destroys nerve cells in the brain and spinal cord, caused by an absence of an enzyme which leads to a buildup of fats in the nerve and brain cells. Which ultimately slowly destroys nerve and brain leading to the loss of mental and physical abilities such as speech, movement, sight and can lead to death (Freedman, 2009, p.8). Unfortunately there’s no cure but there is treatment but this treatment does not consist with preventing anything it's more for support and comfort. This treatments are: Medication can be used to reduce your child's symptoms. Respiratory care because children with Tay-Sachs disease are at high risk for lung infections accumulated mucus in the lungs that can cause breathing problems, but there is therapy called chest physiotherapy (CPT) that reduces the mucus and with our trained therapist we can train family members to perform CPT at home. Feeding tubes because of respiratory issues by inhaling food or liquids into their
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