Tay-Sachs Disease by Trinity https://padlet.com/txnguyen109/rwmbj7zawtrv by Trinity Nguyen, Ashley Tran, and Nicole Phan en-us 2017-10-17 15:19:46 UTC 2017-10-19 15:42:35 UTC hello@padlet.com https://padlet-assets.s3.amazonaws.com/icons/Growing.png Rachaeli Fier (2002-2011) https://padlet.com/txnguyen109/rwmbj7zawtrv/wish/198081333 2017-10-18 02:58:30 UTC https://padlet.com/txnguyen109/rwmbj7zawtrv/wish/198081333 Gavin Marquez (2005-2015) https://padlet.com/txnguyen109/rwmbj7zawtrv/wish/198081498 2017-10-18 03:00:37 UTC https://padlet.com/txnguyen109/rwmbj7zawtrv/wish/198081498 The Tay-Sachs Disease is a rare chromosomal disorder that directly affects chromosome 15. It is a recessive gene inherited from both parents. https://padlet.com/txnguyen109/rwmbj7zawtrv/wish/198081892 2017-10-18 03:04:56 UTC https://padlet.com/txnguyen109/rwmbj7zawtrv/wish/198081892 There is no cure. However, there is ongoing research to replace the enzyme that is the cause. Scientists are hoping this will slow the disease's progression. https://padlet.com/txnguyen109/rwmbj7zawtrv/wish/198082506 2017-10-18 03:11:22 UTC https://padlet.com/txnguyen109/rwmbj7zawtrv/wish/198082506 https://padlet.com/txnguyen109/rwmbj7zawtrv/wish/198082882
]]> 2017-10-18 03:15:22 UTC https://padlet.com/txnguyen109/rwmbj7zawtrv/wish/198082882 Children born with this disease lack an enzyme known as Hexosaminidase A. The enzyme’s absence can interfere with the child’s vision, hearing, movement, and mental development. Unfortunately, blindness, deafness, paralysis, and death (ages 2-5) is a common result. https://padlet.com/txnguyen109/rwmbj7zawtrv/wish/198083061 2017-10-18 03:16:56 UTC https://padlet.com/txnguyen109/rwmbj7zawtrv/wish/198083061 Chromosome Order https://padlet.com/txnguyen109/rwmbj7zawtrv/wish/198083301
]]> 2017-10-18 03:19:13 UTC https://padlet.com/txnguyen109/rwmbj7zawtrv/wish/198083301 Treatments have been developed so the baby will grow up comfortably. https://padlet.com/txnguyen109/rwmbj7zawtrv/wish/198083379 2017-10-18 03:20:04 UTC https://padlet.com/txnguyen109/rwmbj7zawtrv/wish/198083379 Aspiration Pneumonia: the buildup of food and liquids in the lungs create an infection. If it is severe, antibiotics are prescribed. Congestion: Day to day routines such as chest physiotherapy. https://padlet.com/txnguyen109/rwmbj7zawtrv/wish/198083464
]]> 2017-10-18 03:21:07 UTC https://padlet.com/txnguyen109/rwmbj7zawtrv/wish/198083464 Drooling/Excess Saliva: Medication such as trihexyphenidyl or glycopyrrolate are prescribed to reduce the amount of saliva produced. Doctors can also give patients hyoscine skin patches. https://padlet.com/txnguyen109/rwmbj7zawtrv/wish/198084823 2017-10-18 03:29:55 UTC https://padlet.com/txnguyen109/rwmbj7zawtrv/wish/198084823 Ability to Eat Food: Feeding tubes such as the percutaneous endoscopic gastrostomy (PEG) are surgically implanted into the stomach. https://padlet.com/txnguyen109/rwmbj7zawtrv/wish/198294268 2017-10-18 15:22:26 UTC https://padlet.com/txnguyen109/rwmbj7zawtrv/wish/198294268 Works Cited (Videos): HNEkidshealth. “Autosomal Recessive Inheritance - Genetics.” YouTube, YouTube, 30 Mar. 2015, www.youtube.com/watch?v=Nv6qUsKYodA.10newsvideos. “Local family battles Tay-Sachs disease, fights to save son's life.” YouTube, YouTube, 4 Apr. 2013, www.youtube.com/watch?v=Wkj67d5V3hU.rachaeliification. “Meet Rachaeli-Cure Tay-Sachs Foundation Video for Pepsi Refresh Project.” YouTube, YouTube, 28 Nov. 2010, www.youtube.com/watch?v=ZTzAjJkcsU4. https://padlet.com/txnguyen109/rwmbj7zawtrv/wish/198297172 2017-10-18 15:26:32 UTC https://padlet.com/txnguyen109/rwmbj7zawtrv/wish/198297172 Ongoing Research by NTSAD: https://padlet.com/txnguyen109/rwmbj7zawtrv/wish/198302469 2017-10-18 15:34:35 UTC https://padlet.com/txnguyen109/rwmbj7zawtrv/wish/198302469 Symptoms include: loss of motor skills, startled reactions to loud noises, seizures, vision and hearing loss, intellectual disabilities, paralysis, and cherry-red spot. https://padlet.com/txnguyen109/rwmbj7zawtrv/wish/198306801 2017-10-18 15:41:18 UTC https://padlet.com/txnguyen109/rwmbj7zawtrv/wish/198306801 How to Test for TSD: Taking a blood test measures the amount of HEXA in the body. 11 weeks into the pregnancy, prenatal testing can be performed using chorionic villus sampling (CVS). At 16 weeks of pregnancy, amniocentesis can be performed. https://padlet.com/txnguyen109/rwmbj7zawtrv/wish/198309918 2017-10-18 15:46:14 UTC https://padlet.com/txnguyen109/rwmbj7zawtrv/wish/198309918 Works Cited (Information): “Learning About Tay-Sachs Disease.” National Human Genome Research Institute (NHGRI), www.genome.gov/10001220/learning-about-taysachs-disease/. “Tay-Sachs disease - Genetics Home Reference.” U.S. National Library of Medicine, National Institutes of Health, ghr.nlm.nih.gov/condition/tay-sachs-disease. “Tay-Sachs disease.” Mayo Clinic, Mayo Foundation for Medical Education and Research, 21 Oct. 2014, www.mayoclinic.org/diseases-conditions/tay-sachs-disease/basics/definition/con-20036799. “Tay-Sachs disease - Treatment.” NHS Choices, NHS, www.nhs.uk/Conditions/Tay-Sachs-disease/Pages/Treatment.aspx. “Tay Sachs Research.” NTSAD - Home, www.ntsad.org/index.php/research-for-families/research-by-disease/tay-sachs. https://padlet.com/txnguyen109/rwmbj7zawtrv/wish/198712238   ]]> 2017-10-19 15:09:41 UTC https://padlet.com/txnguyen109/rwmbj7zawtrv/wish/198712238 Works Cited (Pictures): “Aspiration Pneumonia.” Stepwards, 27 Apr. 2017, www.stepwards.com/?page_id=1843. “Tay-Sachs Disease.” Emaze presentations, www.emaze.com/@AWZLWRW/Tay-Sachs-Disease. “Tay-Sachs Disease/Gangliosidosis type 1.” Tay-Sachs Disease/Gangliosidosis type 1, taysachsdiseaseinfo.weebly.com/. https://padlet.com/txnguyen109/rwmbj7zawtrv/wish/198715592 2017-10-19 15:15:12 UTC https://padlet.com/txnguyen109/rwmbj7zawtrv/wish/198715592