Tay-sachs is a disease that affects approximately 1 in 27 Ashkenazi Jews in Eastern Europe. If you are not Eastern European Jewish you have a 1:300 chance of being a carrier of the disease. The disease occurs when 2 people who both have the Tay-sachs gene have a child. The chance of that child getting Tay Sachs is 1:4. Symptoms of Tay-Sachs disease generally result in developmental failure early in life, although some extremely severe cases of late-onset Tay-Sachs disease exist. The reason I was able to diagnose my patient (patient b) was because of the presenting symptoms which mainly consisted of poor development in the child who was in the early stages of development (6 months). Presenting symptoms were seizures, failure to achieve common-level motor skill milestones, delayed developmental and social milestones, and increased startle response. The tests provided revealed the presence of a cherry red spot in the macula. Tay-Sachs is not the only disease that causes a failure of developmental processes in the human body, so this alone does not prove that the patient has Tay-Sachs. I diagnosed this patient with Tay-Sachs disease because the combination of the developmental problems, the child's age, and the cherry-red spot at the back of the macula, found primarily in Tay-Sachs disease, provides sufficient evidence that this child Unfortunately he has this debilitating disease. Say no to plagiarism. Get a tailor-made essay on "Why Violent Video Games Shouldn't Be Banned"? Get an original essay The body is in constant homeostasis. Homeo- is a prefix meaning: “similar” and -stasis is a suffix meaning “state of being”. This means that the human body is in a consistently similar state of being. When Tay-Sachs is not prevalent in the body, the body produces the HEXA gene which is responsible for providing instructions to produce the subunit of an enzyme called beta hexosaminidase a. This, in combination with the directly produced alpha hexosaminidase, creates a fully functional enzyme. The body maintains homeostasis by ensuring that the enzyme keeps levels of GM2 gangliosides in the brain's nerve cells low. The enzyme breaks down GM2 gangliosides to keep fatty lipids out of nerve cells so they can function properly. Because the body needs to maintain homeostasis, it needs everything to function properly. When someone has Tay-Sachs, the HEXA gene has a defect. This defect is commonly known as Tay-Sachs disease. This defect, as previously stated, fails to give the body instructions on how to produce certain enzymes to break down the gangliosides mentioned above. For this reason the HEXA enzyme is no longer in the body and can no longer perform the function of breaking down Gm2 gangliosides. Because the body is no longer able to break down gangliosides, they build up in the brain, causing toxic damage to nerve cells over time. Eventually the nerve cells become so horribly damaged that the child will die around age 5. This is why the body is unable to maintain homeostasis. The body can no longer remain in a constant, similar state of being. Please note: this is just an example. Get a custom paper from our expert writers now. Get a custom essay Due to the fact that the patient had presented an absence of physical and mental development, the patient was Eastern European Jew (the people most susceptible to the disease), and the cherry-red spot in the macula, can be said with certainty that this child has Tay-Sachs disease. There is no known cure for the disease.