Tay Sachs Disease Speech

No history of skin disease. Skin is pink, dry, and void of bruising, rashes, or lesions. No recent hair loss; head is normocephalic. Pupils equally reactive to light; no history of glaucoma or cataracts. Ears are in normal alignment; no history of chronic infections, hearing loss, tinnitus, or discharge. Nose and sinus history includes clear nasal discharge “since last October”, and occasional nose bleeds; states she use to get nose bleeds often as a child. Mouth and throat are absent of lesions; no bleeding gums, sore throat, dysphagia, hoarseness, or altered taste. Neck is void of pain, swelling,

There is more to life than just physically growing up; it’s about the experiences we gain from them and how we mature from these experiences. It makes us mature and has definitely taught me a thing or two and what I’ve learnt is, our lives are defined by our choices and the pathways we choose to take. They might be good or they might be bad.

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.

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

Hello, I am Lisa Proctor and this is After CRPS (WEBCAST). Today I thought I could talk to you about "Complex Regional Pain Syndrome and what I have learned it is." ............. Complex Regional Pain Syndrome aka "The Suicide Disease" is a neurodegenerative disorder characterized by the following criteria... Pain which is out of proportion to the injury; autonomic dysregulation; neuropathic edema; movement disorder, as well as atrophy and dystrophy of the muscular tissue........................ It is most often caused by a fracture, soft-tissue injury or surgical procedure. CRPS was previously known within the medical community as reflex sympathetic dystrophy CRPS type 1 and Causalgia CRPS type 2...... Interestingly enough, the differences

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.

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.

Within a year of the examination, two of the three children died. A few years later, one of the children’s parents brought a newly born sibling with the same symptoms to Tay’s clinic; leading Tay to believe whatever the disorder was, quite possibly was hereditary (Cowan 133).

It may also delay the loss of muscle, which even helps with pain tolerability. Tay-Sachs can be hard on families, that's why there is family support that provides the family with information and counseling if needed.

G.M. was then immediately transferred to Rady Children’s hospital Emergency Room by her parents. Upon nursing assessment she presented with vital signs within the same range from her clinic visit. These were repeated every fifteen minutes until stable. Her skin was flushed and diaphoretic. Mucous membranes appeared dry with significant skin cracking around the mouth. Patient was alert and oriented times three and pupils were equal, round, and reactive to light and accommodation. Her breath sounds were clear and equal bilaterally, with no adventitious sounds noted. However, patient G.M. appeared to have

Smith reported that Emily was born at full-term and had no birth complications. Emily had plagiocephaly (a misshapen head) and congenital torticollis for which she received Birth to Three PT services. Her parents report that she was progressing typically in her motor and social skills in spite of these conditions. She could sit up independently, use both hands to flip though a book and play with toys, and stand while holding onto furniture. Beginning at 12 months, Emily’s motor skills reached a plateau and then regressed over several months. At 20 months, she received a diagnosis of Rett syndrome. Emily does not walk or talk. Emily often wrings her hands and hyperventilates, which are two common symptoms of Rett syndrome. She has no history of seizures. She has a G-tube which supplements her oral eating and for the ease of administering

The diagnosis of the disease, its cause or causes, stage, treatment and prognosis will be sought from the pediatrician. He establishes and explains the connection between the disease and the patient's family history. He prescribes appropriate medicines and medications to alleviate the patient's symptoms. The moral principles surrounding the couple's decision concerning the disease are contributed by the ethicist. He warns against the double-effect situation in this disease condition. He emphasizes that birth defects