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Tay-Sachs Disease: Good Genes Gone Bad

Autor:   •  November 13, 2017  •  1,549 Words (7 Pages)  •  148 Views

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At this time, there is no treatment or cure for Tay-Sachs, only palliative care to alleviate the symptoms of the disease (``Tay Sachs Disease``,1984). Many people require chest physiotherapy to deal with their respiratory problems, massage therapy in order to induce muscle relaxation and flexibility, medication to control seizures, feeding tubes in order to receive food and drink, and many other forms of aid in order to continue to go about their lives (McKusick & Hamosh, 1986). Scientists and medical researchers are working to find a cure for Tay-Sachs, and in doing so have developed new treatment methods such as enzyme replacement therapy, molecular chaperone therapy, and gene therapy. However, these treatments still have their obstacles, and are not yet ready for clinical use (``Tay-Sachs disease``, https://results.gentlelabs.com/tay-sachs-disease).

Until the time when a cure is discovered, parents must raise their babies and young children knowing in the back of their minds that these children will have no future (Braiker, 2013). Even those individuals with late onset Tay-Sachs that have the chance of living a normal life span still face constant difficulties in their daily lives. For instance, they have trouble opening containers, are very clumsy, and have challenges finding work as a result of their speech impediments and muscle weakness. Not to mention that they are doomed to spend the rest of their lives in wheelchairs due to their weak lower extremity musculature (``Living With Late Onset Tay-Sachs, It’s Not Just An Infant Disease``).

Tay-Sachs is one of over six thousand genetic diseases that have a severe impact and cause enormous suffering for affected persons and their families (``Hope Through Knowledge``). Symptoms include muscle weakness, paralysis, ataxia, and cognitive impairment. Typically, the condition results in death by age five in the early onset form and progressive gradual impairment and suffering in those with the milder forms of the disease. Sadly, there is no sufficient treatment or cure for Tay-Sachs. There have been gains in genetic testing such that it is now possible to prevent the birth of children with the disease. In addition, hopefully, research on gene therapy and other similar treatments will lead to a cure for this absolutely devastating disease.

References

Braiker, B. (2013, March 27). Parenting a Child With No Future. Retrieved from http://www.cnn.com/2013/03/27/living/parenting-emily-rapp/

Hope Through Knowledge, n.d. Retrieved from Genetic Disease Foundation http://www.geneticdiseasefoundation.org/

Learning About Tay-Sachs Disease, n.d. Retrieved from http://www.genome.gov/10001220

Living With Late Onset Tay-Sachs, It’s Not Just An Infant Disease, n.d. Retrieved from

Martin, D., Mark, B., Triggs-Raine, B., & Natowicz, M. (2007, January 26). “Evaluation of the Risk for Tay-Sachs Disease in Individuals of French Canadian Ancestry Living in New England.” Retrieved from http://www.clinchem.org/content/53/3/392.full

McKusick, V., & Hamosh, A. (1986, June 4). “TAY-SACHS DISEASE; TSD.” Retrieved from http://omim.org/entry/272800

Tay-Sachs disease. (2015, August 10). Retrieved from http://ghr.nlm.nih.gov/condition/tay-sachs-disease

Tay-Sachs Disease, n.d. Retrieved from https://www.labcorp.com/wps/wcm/connect/IntGeneticsLib/integratedgenetics/resources/diseases/tay-sachs+disease?Tay-Sachs%20Disease

Tay-Sachs Disease, n.d. Retrieved from http://www.ncbi.nlm.nih.gov/pubmedhealth/PMHT0024672/

Tay Sachs Disease, (1984). Retrieved from https://rarediseases.org/rare-diseases/tay-sachs-disease/

Tay-Sachs disease, n.d. Retrieved from https://results.gentlelabs.com/tay-sachs-disease

Soleas, T. (2015, August 15). Retrieved from email message

1. Tay Sachs Disease: Genetics Home Reference. http://ghr.nlm.nih.gov/condition/tay-sachs-disease.

2. OMIM: Tay-Sachs Disease; TSD. http://omim.org/entry/272800

3. National Human Genome Research Institute. http:\\www.genome.gov/10001220

4. PubMed Health: Tay-Sachs Disease. http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002390/

5. Scott S, et al. Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases. Hum Mut. 2010; 31:1-https://www.labcorp.com/wps/wcm/connect/IntGeneticsLib/integratedgenetics/resources/diseases/tay-sachs+disease?Tay-Sachs%20Disease

6. Martin, DC, et al. Evaluation of the risk for Tay-Sachs disease in individuals of French Canadian ancestry living in New England. Clin Chem. 2007; 53(3): 392-398. http://www.clinchem.org/content/53/3/392.full

7. Monaghan K, et al. Technical standards and guidelines for reproductive screening in the Ashkenazi Jewish population. Genet Med. 2008; 12:57-72.

8. National Tay-Sachs and Allied Diseases

9. "Chorionic Villus Samplng and Amniocentesis: Recommendations for Prenatal Counseling". (http://www.cdc.gov/mmwr/preview/mmwrhtml/00038393.htm). United States, Center for Disease Control.

10. https://rarediseases.org/rare-diseases/tay-sachs-disease/ ARE #8 AND #10 THE SAME SOURCE?

11. http://www.cnn.com/2013/03/27/living/parenting-emily-rapp/

12.

13. http://www.geneticdiseasefoundation.org/

Extra Info:

Conclusion: Everyone knows or has heard of a person with a genetic disorder, but hardly anyone has the ability to put themselves into these peoples’ shoes. These are just ordinary people who did nothing to deserve their disorders. In this sense, genetic diseases bring about a lack of justice.

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