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TAY-SACHS DISEASE

TAY-SACHS DISEASE. Jace Waldmann Maxwell Fleming. This is Kristy. She has Tay -Sachs. Could you tell? Tay -Sachs is a mental disorder, the fatty substance called ganglioside G M2 build up in tissues and nerve cells in the brain .

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TAY-SACHS DISEASE

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  1. TAY-SACHS DISEASE Jace Waldmann Maxwell Fleming

  2. This is Kristy.

  3. She has Tay-Sachs • Could you tell? • Tay-Sachs is a mental disorder, the fatty substance called ganglioside GM2 build up in tissues and nerve cells in the brain. • The enzyme that catalyzes the biodegration of this lipid is shut-off. • Therefore the gangliosides keep building up and destroying the brain.

  4. Inheritance of Tay-Sachs

  5. Tay-Sachs Genetics • Tay-Sachs is recessive, and a person inherits it from his infected parents. • Tay-Sachs is due to a genetic mutation on the HEXA gene on chromosome 15.

  6. Carrier Stats • 1/27 Ashkenazi Jews, French Canadians, or Louisiana Cajuns. • 1/50 Irish Americans • 1/250 of the general population are carriers of the Tay-Sachs disease gene. • That means in the US there is 1.2 million people in the US that are carriers.

  7. Look back at kristy • Diagnosis for Tay-Sachs is usually within 3-6 months after birth. • Initial symptoms can be: • Seizures • Noticeable behavior changes, such as the infant stops smiling, crawling or rolling over and loses the ability to grasp or reach out • Increased startle reaction • Decreased eye contact • Listlessness • Increasing irritability • Slow body growth with increasing head size • Delayed mental and social skills

  8. Progression • As the disease progresses symptoms are: • Feeding difficulties • Abnormal body tone • Loss of motor skills • Blindness • Deafness • Loss of intellectual skills

  9. Treatment of the disease • Treatments for Tay-Sachs include: • Medications • Techniques to keep the airway open. • Treatment for Tay-Sachs also focuses on lifestyle and care issues, including: • Feeding • Proper nutrition and hydration.

  10. Treatment of the disease. • Several different medications are available to treat symptoms of Tay-Sachs. For example, anticonvulsant medicine can be used to control seizures • Eating food, and swallowing are a big part of the disease fatality. As Tay-Sachs progresses, a feeding tube may be necessary in order to provide enough calories and proper nutrition

  11. Research • Gene therapy research may eventually lead to a cure or treatment to slow the progression of Tay-Sachs disease. • There is no new updates on being close to a cure, and treatments are the only way to “slow” the disease.

  12. Personal The most common form of Tay-Sachs is known as Infantile TSD. A child with this form of the disease would appear to have normal development through the first six months after birth. Then, as physical and mental deterioration progresses, the child would experience loss of sight, hearing, and unable to swallow, and would become paralyzed. The child will most likely die before the age of four. Life is not very full.

  13. Other forms • . Juvenile TSD, an extremely uncommon form of the disease would strike children between two and ten years old. Symptoms include cognitive, motor, and speech difficulties as well as spasticity and trouble swollowing. Death with this form of TSD will probably occur between ages five and 15. • Another uncommon form of the disease is Adult or Late Onset TSD. Symptoms will become apparent in the patients 20s and early 30s. The patient will experience speech and swallowing difficulties, lack of muscular coordination, spasticity, cognitive decline, and psychiatric illness, commonly schizophrenic –like psychosis.

  14. Personal • Obviously, the majority of the short life that children with TSD will be rather miserable. The child would not be able to live any aspect of a normal life, with the symptoms soon becoming too strong to function very well academically in school as well as interacting with other kids. • However, Late Onset TSD is much less commonly fatal than the other forms of TSD, and, psychiatric symptoms, as well as siezures if they are present, can be controlled with medications. Many people living with Late Onset TSD can live somewhat normal lives. One example is Vera Pesotchinsky. She was diagnosed with TSD at age 26 after experiencing symptoms for 12 years with many misdiagnoses.

  15. Vera Pesotchinsky • One example is Vera Pesotchinsky. She was diagnosed with TSD at age 26 after experiencing symptoms for 12 years with many misdiagnoses. • Vera overcame her disability and graduated from Wesley College and received an MBA from Santa Clara University. She lives independently as an adult and is successfully working in a family business.

  16. So, as Vera has very well demonstrated, with Tay Sachs Disease making your everyday life difficult, you still can have an enjoyable and successful life. • There is currently no cure for Tay Sachs. • However, there are medications that can ease the symptoms of the disease, and there are currently countless organizations like the The Cure Tay Sachs Foundation raising money for Tay Sachs research.

  17. Organizations • Here are some organizations that can help Tay-Sachs families cope with the struggle: • Lordfoundation.org • Hopeunit.org • Adec.org

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