Tay-Sachs Disease: A Case Study

B) Differences between the symptoms of Tay-Sachs and Fragile X as well as the treatments or interventions.

Children affected by Tay Sachs disease are born seemingly normal and develop like any other child in the first three to six months of life. Throughout the next month, and sometimes even years, the baby will progressively lose the ability to see, hear, and move. The child will develop a cherry-colored red spot in the back of the eye and they lose or never even gain important motor and mental skills. The child will stop smiling, crawling, sitting, turning over, and reaching for things. By

The cell is the basic unit of life in eukaryotic organisms. The inside of the cell is comprised of multiple subunits called organelle that all function together to maintain homeostasis and function. Each individual organelle is assigned a specific task and purpose for the cell. These tasks and purposes can range from structural support all the way to the disposal of malfunctioning organelle.1 Similarity to a machine, if one part stops functioning to full potential, serious if not fatal consequences can be faced. A shining example of the effects of a malfunctioning organelle occurs in Tay-Sachs disease. Tay- Sachs disease is a lysosomal disorder that is caused by a faulty lysosome.1 Recent studies and research have been investigating the causes and pathways Tay-Sachs disease with great success, which is amazing news for the scientific community.

To help prolong Tim?s life I?d use these strategies: Ensure that Tim?s needs are balanced with Ralph and Pat and try to eliminate individual isolation and ensure that the needs of all the parties involved are known, understood and well-managed. Communication channels need to be open about issues of end-of-life to know the time to execute advance care preparation and proper referrals (A Guide to ALS Patient Care for Primary Care

Signs and symptoms of the disease do not begin to surface until the child is around six months of age and it begins with gradual dysfunction of the motor skills. As the nervous system further degrades the symptoms become worse and the child loses sight, hearing, and mental functionality. Unfortunately there is no treatment for Tay-Sach’s except comfort measures and the life expectancy for a child with infantile Tay-Sach’s disease is typically four to five years (Ainsworth, 2011). The physician would need to emphasize that maternal age or lifestyle does not have any part in the cause of this diagnosis. The physician would then need to explain the options available at this time which are carrying the child to term or terminating the pregnancy via therapeutic abortion (Tay-sachs.org). Depending on the parent’s decision, should they choose to carry the child, they can also choose to care for the infant or place it for adoption. After the physician has spoken with the family, the RN would need to be there for the family, not only to listen, but again to answer any questions they may have.

Tay-Sachs disease is a rare genetic disorder that destroys the nerves of the brain and spinal cord (the neurons). Tay-Sachs is usually discovered during infancy, the child appears to be on track and developing normal until the first signs of symptoms become apparent. The children typically do not live past the age of 5 due to many symptoms of the disorder/disease. However there have been individuals with Adult Tay-Sachs Disease (ATSD) and Late Onset Tay-Sachs disease (LOTS) in which they develop mild symptoms later on and worsen throughout the years. The symptoms include: loss of motor skills or muscle movement, vision and hearing loss, intellectual disabilities and dementia, and even can cause paralysis. The most common way to notice a child

It has come to my attention that you believe Tay-Sachs disease is less devastating than ALD. To make an assumption does not do you justice and I am here to inform you on each of these demyelinating diseases so you can understand why in fact Tay-Sachs disease is in fact more devastating than ALD

P: After working together and people looking out for each other the team will get stronger and be more productive as there is high morale

At around two to five years of age the juvenile stage will become apparent, death will take place at about 15 years. Lastly, late onset Tay Sachs will become noticeable at about 20 or 30 and you live with it until you are older because it is not so severe (Gale). Unfortunately, there are no survivors of Tay Sachs. One of every 50 to 150 people in the general population are carriers. French Canadians, Louisiana Cajuns, and Ashkenazi Jews have a one in 27 chance of carrying Tay Sachs (NTSAD). These mutations are just more common in these mentioned backgrounds, and older Amish country. People of these backgrounds have a higher carrier rate, thus causing a higher chance of getting Tay Sachs than the general population

Tay Sachs is a disease in the nervous system. It mainly occurs in infancy, and the infant can appear normal until ages 3-6 months when their muscles for movement weaken and development slows down. Affected infants with Tay Sachs disease loose motor skills such as sitting, crawling, and turning over, and in some cases develop an extreme startle reaction to loud noises. As this vigorous disease advances, children distressed can experience paralysis, intellectual disability, seizures, hearing and vision loss, and an eye abnormality called a "cherry-red spot." Most children afflicted usually only live into early stages of childhood.

Tay-Sachs disease is an inherited disorder that progressively destroys nerve cells in the brain and spinal cord. Commonly it becomes apparent in infancy. Infants with this disorder usually appear normal until ages 3-6 months, when their development slows and muscles used for movement weaken.

As of 2012, Progeria Research Foundation provided over 3 million dollars for progeria related research projects performed in many states and in 6 other countries. As of right now, there are not any treatments to help cure progeria but there are some medications to help some of the problems such as arthritic, respiratory, and cardiovascular problems and to help make people living with progeria more comfortable. Doctors suggest that children with Progeria take aspirin to help with their heart health. Once the child has hypertension, strokes or seizures, the child will take medicines similar to what adults would take for these

The members will be a physician, a geneticist, an ethicist, a lawyer and a nurse. The physician, who is a pediatrician, makes the diagnosis of Tay Sachs. The geneticist, another specialist, provides more specific and applicable information on Tay-Sachs, such as causes and risks, prevention, diagnosis and treatment. These two specialists formulate a plan of care, which a nurse will implement. The ethicist informs them about accepted moral values and the proper human conduct, behavior and decisions in dealing with Tay-Sachs. The lawyer or legal practitioner informs the involved parties about the current laws and court decisions concerning or affecting the management of genetic disorders, such as Tay-Sachs. And the nurse carries out the detailed instructions of the geneticist and pediatrician as well as incorporates the guidelines inputted by the lawyer.

The two components of the central nervous system (CNS) are the brain and the spinal cord. Communication between the brain and the spinal cord happens through motor neurons, which are nerve cells that enable motor movement. Each motor neuron is made up of a cell body, which holds all the cell components, dendrites which send information it receives to the cell body, and an axon which sends nerve impulses to the muscle (Porth & Matfin, 2009). As electrical impulses are sent through the motor neuron, it stimulates the muscle fibers in the body to move. This is the process in which motor function happens. Therefore, the basic abilities to breathe, speak, swallow, walk and button a shirt are

Case Study: A thirty six year old male has developed severe muscle weakness throughout the body. The condition began fifteen months ago with a left foot drop and within a year, he described difficulty with speech and swallowing, muscle twitching and cramping, and muscular atrophy throughout the upper and lower limbs. Within the last two months, his breathing has become more difficult, and there has been a noticeable difference in his voice. Prior to the fifteen months, he presented little to no symptoms. The patient, a medical doctor, has a wife and two young children.