Tay Sachs Counseling Case Study

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Tay Sachs Counseling After several years of marriage, Rita and Peter Trosack began trying to conceive a baby but were unsuccessful for two years. Finally, the news they had been waiting for came and Mrs. Trosack was pregnant. At her initial prenatal visit, the obstetrician recommended chorionic villus sampling (CVS) because of her age. This exciting time changed direction when the CVS results indicated that her fetus was afflicted with Tay-Sachs disease. This long awaited celebratory occasion quickly turned into an emotional nightmare and a high-risk pregnancy. During times like this, it is of upmost importance to equip families like the Trosacks with appropriate education, referral networks and support groups. Interdisciplinary Team There are numerous factors that must be addressed to assist…show more content…
Although the process begins in the womb, the infant usually appears to be normal for the first three to four months. After this, muscle atrophy, lung infections, seizures, increased startle reflex, vision and hearing loss, mental retardation and inability to swallow begin to occur (Schoenstadt, 2008). Education on supportive care would include proper hydration and nutrition. As the disease progresses, this will be accomplished through a feeding tube to maintain adequate caloric intake and prevent dehydration. Antispasmodic and anticonvulsant medications will help control muscle spasms and seizures. Physical therapy can be beneficial in maintaining muscle strength, improving balance and preventing contractures. Children with Tay-Sachs have a higher risk to develop chronic lung infections. These infections result in mucus accumulation and breathing difficulties so chest physiotherapy can be beneficial in breaking up this mucus accumulation. Respiratory therapists can teach the parents how to perform
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