...Tay-Sachs Disease Tay-Sachs Disease is a neurological disorder that is passed on from parent to child in the same way that other genetic traits are passed on. The first section of this paper, on pathophysiology, will go into this subject further. It will explain not only how the trait for this disease is passed from generation to generation, but also the specific mutations that cause it. This section will explore the trait that is expressed when the gene is turned on, how it effects cell metabolism, and in turn, the disorder that is caused in the body as a result. The second section will describe the clinical manifestation of the disease. It will cover what is typical in a patient with the disease, initial and continuing symptomology, and unfortunately, the cause of death in most people who have the disease. Lastly, the final section will reveal the medical management of the disease. Tay-Sachs has caused so much suffering, but with the advances made in genetic technology, and a little luck, the current generation of researchers are hoping to change that (Wise, 2012). Pathophysiology Tay-Sachs disease results from a number of different mutations on the fifteenth chromosome. When the gene functions correctly, it results in an enzyme called hexosaminodase. This enzyme breaks down molecules in the body called gangliosides. Without the proper enzyme to break these molecules down, they build up in what are called ganglion cells. These cells then swell keeping the neurons fro functioning...
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...Genetic Disease Project – Tay-Sachs Disease Tay-Sachs is an autosomal recessive genetic disorder caused by a mutation in the HEXA gene on chromosome 15 that damages the nerves of the brain and spinal cord. It is also known as GM2 gangliosidosis because of the accumulation of gangliosides (especially and particularly GM2 gangliosides, a component of the cell membrane) in the brains nerve cells which leads to premature death of the cells and is the cause of the deterioration the patient exhibits. The disease is named after two physicians, Waren Tay and Bernard Sachs. Tay was the first to define and discuss the cherry-red spot in on the retina, which is an indicator of the disease. Sachs was a neurologist that studied the Ashkenazi Jew population and noticed the cellular changes of the disease and its increase prevalence in isolated populations. An individual with the disease will fall into one of three classifications, infantile (the most common), juvenile on-set and adult on-set. Classification of Tay-Sachs depends on the symptoms and the age at which the symptoms occur. The prognosis is not a favorable as the disease is severely degenerative and usually results in death of the infant or juvenile. Adults become wheelchair bound but may not die of the disease. Babies with infantile Tay-Sachs appear normal for the first few months after birth but as the gangliosides begin to accumulate and distend and stress the neurons the mental and physical deterioration begins. This...
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...Tay-Sachs disease is an inherited recessive gene disorder that progressively destroys nerve cells within the brain and spinal cord. The most common form of Tay-Sachs disease becomes apparent in infancy. Infants with this disorder typically appear to be developing normally until the age of three to six months. Typically after this point is when their development slows and muscles begin to weaken. These infants lose motor skills and identifiable milestones such as turning over, sitting, and crawling. Another sign of this disease is the sudden startle reaction to loud noises. As the disease progresses, children often begin to acquire seizures, vision and hearing loss, and paralysis. A common characteristic of this disease is an eye abnormality called a cherry-red spot, which can be identified with an eye examination. Often times this is how the disease is found when at a doctor’s visit. Children with this severe infantile form of Tay-Sachs disease usually live only into early childhood, usually somewhere between the ages of three to five....
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...Tay-sachs disease is a genetic disorder that the result in the detruction of nerve cells in the brain and spinal cord. The most common type, known as infantile Tay-sachs disease, becomes apparent around three to six months of age with the baby losing the ability to turn over,sit, or crawl. This is the followed by seizures, hearing loss ,and inability to move. Death usually occurs in early childhood. Less commonly the disease may occur in later childhood or adulthood. These forms generally milder in nature. It is inherited from a person’s parents in an autosomal recessive manner.the mutation results in problems with an enzyme called beta-hexosaminidase which results in the blood hexosaminidase a level or genetic testing. The target age of...
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...Tay-Sachs Disease, No Cure, No Treatment. What Are The Options? Tay-Sachs disease (TSD) was first described in 1881 by English physician, Dr. Warren Tay and then more fully described in 1887 by American neurologist, Dr. Bernard Sachs. TSD is a regressive genetic disorder, in which symptoms usually develop within the first six months of life and usually ends fatally around four to five years of life. Steven Ainsworth says TSD is, “caused by the absence of a vital enzyme called hexosaminidase-A. Without this enzyme, a fatty substance called ganglioside builds up in the cells of the nervous system, causing them to stop working normally and eventually killing them.” (31). This basically stops development, including respiratory, motor, and several other functions. Tay-Sachs disease has plagued mankind for over a century, and with no treatment or cure discovered mankind is left with three main approaches to prevent and reduce the incidence of the disease. According to Hilary Vallance and Jason Ford, it was in 1970 that carrier testing was introduced for TSD by measuring the activity of hexosaminidase isoenzymes (476). This screening allowed individuals from high risk groups, like the Jewish community, to be identified as carriers. Vallance and Ford also said, “In North America since 1983, there have been 3 to 5 TSD-affected children born per year compared with approximately 60 new cases per year prior to screening.” (476). If these high risk couples that choose to try and have...
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...Tay - Sachs disease (TSD) is a fatal genetic disorder that is caused by the absence of a vital enzyme called hexosaminidase-A (Hex-A). Infants with Tay-Sachs disease appear to develop normally for the first few months of life. As nerve cells become distended with fatty material, a relentless deterioration of mental and physical abilities occurs. The child becomes blind, deaf, and unable to swallow. Persons with Tay-Sachs also have "Cherry-red" spots in their eyes. The incidence of Tay-Sachs is particularly high among people of Eastern European and Ashkenazi Jewish descent. Patients and carriers of Tay-Sachs disease can be identified by a simple blood test that measures beta-hexosaminidase an activity. However are there a lot of cause and effects to Tay - Sachs disease in these instances, there is a 25 percent chance with each pregnancy that the child will be affected with Tay-Sachs disease. A defective gene on chromosome 15 causes Tay-Sachs disease. This defective gene causes the body to not make a protein called hexosaminidase A. Without this protein, chemicals called gangliosides build up in nerve cells in the brain, destroying brain cells. The disease is hereditary, which means it is passed down through families. An individual has to receive two copies of the defective gene-one from each...
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...The genetic disease that I got was Tay Sachs’ Disease. Tay Sachs’ Disease is a disease that destroys your nerve cells and effects your spinal cord. It can effect you in many different ways and eventually can kill you. Tay Sachs’ Disease got it’s name from a British ophthalmologist named Warren Tay. He was treating someone with a cherry-red spot on the retina of their eye when he noticed this disease. It was also named by a New York neurologist named Bernard Sachs. He noticed that that this disease was only found in Eastern European Jewish descent at the time.Today it is starting to be found in different races besides just Jewish origin. This disease is mostly common in infants but, can be seen in teenagers or even adults around the age...
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...Tay-Sachs Disease Foreword: Before beginning to read this review of the case study, please note that current events of today pertain more to preconception screening for genetic anomalies and genetic studies. Today due to preconception genetic screening many parents opt to terminate a fetus with fatal or painful anomalies; therefore a large portion of the research for parents who are expecting a child with Tay Sachs Disease was noted to be during an approximate 30 year span from the mid-1950’s to the early-mid 1980’s, thus older citings will be noted. “Tay-Sachs parents say that their child dies three times—when the disease is diagnosed, when the child enters the hospital, and the final time.” (Atwater, 1964) “How do you parent without a net, without a future, knowing that you will lose your child, bit by torturous bit?” (Rapp, 2011) Will it be a boy or a girl? What color will the eyes, the hair be? Whose smile will the baby have? These are just a few of the many questions that begin when parents find out they have conceived a child, and most of the time the questions only grow as the pregnancy progresses too; what will they want to be when they grow up? Who will they look like? Will they be strong, graceful, independent, or determined? Should we look at preschools and colleges now? It may not seem to occur very often that parents will say to themselves; we never thought about how we might parent a child without a future. Now instead of questions that may focus on the...
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...Tay–Sachs disease is a rare autosomal recessive genetic disorder. In its most common variant (known as infantile Tay–Sachs disease), it causes a progressive deterioration of nerve cells and of mental and physical abilities that begins around six months of age and usually results in death by the age of four. The disease occurs when harmful quantities of cell membrane components known as gangliosides accumulate in the brain's nerve cells, eventually leading to the premature death of the cells. There is no known cure or treatment. Tay–Sachs disease is typically first noticed in infants around 6 months old displaying an abnormally strong response to sudden noises or other stimulus, known as the "startle response". There may also be listlessness or muscle stiffness (hypertonia). The disease is classified into several forms, which are differentiated based on the onset age of neurological symptoms.Infantile Tay–Sachs disease. Infants with Tay–Sachs disease appear to develop normally for the first six months after birth. Then, as neurons become distended with gangliosides, a relentless deterioration of mental and physical abilities begins. The child may become blind, deaf, unable to swallow, atrophied, and paralytic. Death usually occurs before the age of four.Juvenile Tay–Sachs disease. Juvenile Tay–Sachs disease is rarer than other forms of Tay–Sachs, and usually is initially seen in children between two and ten years old. People with Tay–Sachs disease develop cognitive and...
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...organ donation effect lives and have an impact on society. These issues are emotional in nature and do not have solid biological answers. In the case of abortion there are many variables with the pregnancy such as rape, incest, and malady in the infant. The essay by Emily Rapp, Rick Santorum, Meet my Son, discusses her painful journey through parenting a child with a degenerative genetic disease. She discusses utilizing modern technology tests that are available to the parent but that did not give her the information she needed. She herself underwent genetic testing. But these tests did not catch the fact that her son had Tay Sachs disease, considered one of the most serious of all birth defects, Tay Sachs is always fatal. Tay Sachs causes seizures and blindness and is very painful. Rapp describes in detail how agonizing her son’s life is. Ironically, the senator to whom she targets her issue has also faced a similar issue. Rick Santorum’s youngest daughter, Bella, was born with a genetic disease called Trisomy 18. This disease can also be fatal but is not considered as serious as Tay Sachs. Santorum is a very conservative politician who believes abortion should be illegal. Santorum campaigns on a platform that all life is precious including children with severe disabilities and notes his daughter Bella as one such example. The author points out that she is a person who is disabled. When she was born her mother was told to institutionalize her, because she would not be able...
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...Genetics Case Study Arthur LaForest Western Governors University 3/7/2013 Interdisciplinary Team, Rational, and Type of Information An interdisciplinary team would be put together by a case manager nurse. A married couple having a first pregnancy diagnosed with Tay-Sachs will need help from a case manager nurse, a social worker, a genetic counselor, an Obstetrician, a Pediatrician, a Catholic Priest, and a Psychologist to help with the emotional issues of a Tay-Sachs pregnancy. The case manager nurse would put together the interdisciplinary team with the married couple, gather history, provide continuity, and comprehensively help make sense of all that will be taught by the team members. The social worker will help with support groups, local referrals, insurance, grants, and financial support. An Obstetrician will help with pregnancy information, manage pregnancy, and deliver the baby. A genetic counselor will help with complete and specific information on the genetic disorder. A Pediatrician can prepare the parents for the care of the baby and what to expect and do from the birth to the death of the baby. Both parents were raised in the Catholic religion and a Priest would help with the comfort of religious beliefs and faith. A Psychologist can counsel the parents, helping them through the emotional turmoil and grief of this pregnancy, birth, and death of child. Teaching Plan With a teaching plan it is important to communicate with words that the parents can understand...
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...assignment” Tay-Sach's Disease Disease and the deterioration it causes on the human existence is a tragic but inevitable phenomenon that man has dealt with throughout time. Death is unavoidable, yet the situation becomes evermore helpless when it strikes the young; the innocent who have not had their share of time, as is the case with a condition like Tay-Sachs disease. Fortunately, much childhood disease that plagued us for centuries has been eradicated due to the advances of modern science, and with the prospects of genetic technology today, the future is looking promising for those that have manage to elude scientists, like Tay-Sachs. However, Tay-Sachs is not a disease that can be considered in terms of science alone; it effects a unique ethnic population whose history and beliefs need to be considered in a sensitive manner. Tay-Sachs disease is a genetic disorder that is devastating in its deadliness. This rare fatal disease is passed down through families. The disease’s hyphenated name is the result of two doctors, who worked independently of one another in the late 1800s. Dr. Warren Tay, an ophthalmologist, was the first to characterize one of the tell tale signs of the disease, the retina of the eye has a cherry red spot. A New York, neurologist, Dr. Bernard Sachs provided the first description of the biological mutations with Tay-Sachs disease. Tay-Sachs is a progressive neurodegenerative disorders. The individuals diagnosed with the disease experience a...
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...GENETICS CASE STUDY GENETICS CASE STUDY This case study is based on a high-risk pregnancy due to advanced maternal age, genetic test indicating the fetus to have Tay-Sachs Disease and the coping strategies for this family. Rita Trosack is a 43-year old white female, married for six years to husband, Peter, a 46-year old white male. They both work in the financial district of Chicago and live downtown. They have been trying to conceive for two years. They both work an average of sixty hours a week. Rita and Peter were both raised as Catholics; however, they choose not to practice at this time. Rita missed her menstrual period, began having typical signs and symptoms of pregnancy (nausea, dry heaving, tender breasts, and fatigue). The fatigue was so severe she decreased her hours at the bank. An early pregnancy test performed by Rita tested positive. She then calculated her due date as January 27, 2009, since her last menstrual period (LMP) began on April 20, 2008. Rita met with Dr. Zimmerly an obstetrician in a high-risk obstetric clinic. On this first visit he confirmed the estimated date of delivery (EDD) as late January 2009. Due to Rita’s age, the chorionic villus sampling (CVS) was recommended to screen for fetal genetic defects. Rita had the test in early July, which would place her around eleven weeks into her pregnancy; this is the appropriate time in which to perform the CVS. Amniocentesis could have been performed, but this is usually...
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...Running head: GENETIC DISEASE DIAGNOSIS, SCREENING, TREATMENT Genetic Disease Diagnosis, Screening, Treatment, Advocacy and Decision Making Linda Jefferson Western Governors University Contemporary Nursing Issues GNT1 December 16, 2012 Genetic Disease Diagnosis, Screening, Treatment, Advocacy and Decision Making Generally speaking, a pregnancy in today’s society is met with varying emotions ranging from devastation and fear to joy and excitement. Some expectant parents have conceived on accident, some carefully planned. Some expectant parents have conceived with no problems; while others have had difficulty. These parents often find themselves trying different methods and spending a great deal of their finances to increase their chances of conceiving. With that being the case, it is often devastating to finally conceive and find out that your child has a birth defect or a disease such as Tay Sachs. Tay Sachs is a genetic condition, usually found in Caucasians, and primarily those of Jewish descent, and develops in 25% of cases when both parents carry the recessive gene (National Tay-Sachs and Allied Diseases [NTSAD], n.d.). It’s a neurological disorder that effects brain development. Development of infants afflicted with this disease appears normal at first but soon deterioration of the child’s mental and physical abilities becomes apparent. This deterioration continues until most children afflicted with Tay-Sachs lose their battle for life...
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...Tay-Sachs Disease Tay-Sachs disease (TSD) is a fatal genetic disorder, most commonly occurring in children, which result in progressive destruction of the nervous system. “Tay-Sachs is caused by the absence of a vital enzyme called hexosaminidase-A (Hex-A). Without Hex-A, a fatty substance, or lipid, called GM2 ganglioside accumulates abnormally in cells, especially in the nerve cells of the brain. This ongoing accumulation causes progressive damage to the cells (www.genome.gov).” Hex-A is an enzyme that breaks down complex fats called gangliosides found in nervous tissues. As genome.com stated without Hex-A, there is a buildup of ganglioside in the cells of the brain, which causes extreme damage to the cells. Tay Sachs was named after Warren Tay and Bernard Sachs. Tay was a Bristish ophthalmologist who first described the red spot on the retina of the eye that is present in Tay–Sachs disease. Later in Volume V of Ophthalmological Society, he gave a complete description of the clinical symptoms of the disorder. Sachs, a New York neurologist, provided the first description of the cellular changes and the genetic nature of Tay-Sachs disease. Tay-Sachs disease results from defects in a gene on chromosome 15 that codes for production of the enzyme Hex-A. Tay-Sachs is an autosomal recessive genetic disorder, which means that both parents must be a carrier of the disease for their offspring to be at risk. Yet children of parents who are carriers have a 50 percent chance of being...
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