The Tay Sachs Disease: A Case Study

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

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.

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.

Mr. and Mrs. Trosack have recently been told through chorionic villus testing, that their unborn child has Tay Sachs disease.As the case manager there should be several appropriate members identified for an interdisciplinary team to obtain information for the Trosacks ' initial visit. Those team members include, a high risk obstetrician, or perinatologist, obstetric nurses, a geneticist, a social worker, and or genetic counselor who specializes in such genetic diseases, and it would be

There are no treatments or cures for Tay-Sachs disease; however, through palliative care,  treatment is used to keep the child comfortable. Palliative care often includes prescription medication to relieve symptoms, the use of feeding tubes, physical therapy, and respiratory care to avoid issues with the lungs and airways.

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

In the case study 18-6, Philip Becker is 12 years old child who has critical medical problems like a congenital heart defect and elevated pulmonary blood pressure, combined with Down syndrome. The doctor stated that if Philip is not operated, he can live for 25 years but will face incapacitation. The operation that had a 5-10% mortality risk, could give him a life span of a child with Down syndrome. Despite a lot of opposition, his parents decided to not operate Philip because they thought that there would be nobody to take care of Philip, if he outlived them.

Tay Sachs Disease is an inherited disease that results in slow destruction of the central nervous system and sensory systems, which is caused by a mutation resulting in a deficiency of a lysosomal enzyme. The missing enzyme, hexosaminidase A, functions in breaking down the fatty material ganglioside GM2, a chemical found in nerve tissue. Without this enzyme, lipids accumulate in the brain cells and destroy them, resulting in damaged nerve cells, neurological problems, and eventually leading to death several years after birth. The disease was first discovered by Waren Tay, a British ophthalmologist in 1881. Tay-Sachs disease is very rare in the general population and is relatively common among certain ethnic groups such as Eastern Europeans

Tay Sachs disease is a life threatening disease that is passed down through families. Anyone can be a carrier of Tay Sachs, but is not common in the general population. The disease is most common in the Jewish population. 1 in every 27 members is a carrier of the disease. Tay Sachs disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The most common form of Tay Sachs disease becomes apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows and muscles used for movement weaken (Genetics Home Reference, 2017).

The history behind Tay Sachs disease is in 1881 Warren Tay who is a ophthalmologist had this child with mental and physical retardation in the child’s

About one in every 36,000 children of Ashkenazi descent will have Tay Sachs (Gale). Tay Sachs is a nerve disorder that attacks mainly younger children and will eventually cause the body to stop functioning properly. This takeover of the nerves will cause death at an early age. There is currently no cure for the disease, but there are many options for treatments and coping.

However, there are thing that can help the child throughout the disease to help with the symptoms. Many kids that have Tay-Sachs are at risk for respiratory problems and can easily develop lung infections. This can be an issue when excess mucus collects in the lungs and creates breathing problems. It is also easy for the patients to have feeding problems and often gastronomy tubes are used. A gastronomy tube is a tube inserted into one’s nose that connects to the stomach. If the swallowing issues are really impacting the patient, one might opt for an esophageal tube, which is inserted surgically. Chest physiotherapy (CPT) can help remove the accumulated mucus. Due to the loss of mobility and motor skills, many patients benefit from physical therapy. This

With the guidance of their physician, Baby Does’ parents chose to withhold medical care and surgery due to the

This disease presented itself when the unhealthy twin was 2 years old. Her symptoms when she was seen by doctors were recurrent falls, fever, progressive weight loss, muscle weakness, trouble walking and myalgia. After many test were run it was found