Genetics, Disease Counseling

The team will look into the child’s cognitive abilities such as IQ, learning styles and adaptive behaviour. These are important as well for possible treatment

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

In the scenario regarding making the decision on aborting the child with Down Syndrome is really tough decision to take especially in Susan’s case since she was facing pregnancy difficulties

As a helper, there would be many issues involved; in addition, there would be some extremely sensitive material the worker would have to deal with. My main purpose would be to guide them through the process. First of all. Jennifer has been diagnosed with a progressive disorder of the on the central nervous system, which is linked to genetics. I would recommend they ask the specialist how the pregnancy could affect Jennifer. Would the pregnancy be detrimental to her health? I would suggest getting a second and a third opinion. Would the fetus survive if it was afflicted with the disease? These are questions that only a specialist in neurology would be able to answer. I would help them look for a specialist who is familiar with the disease; consequently, it would be beneficial to find an expert who has dealt with it before. I would help the couple research the disease, then they can take it from there. There are two routes for this couple; therefore, they can select to have their child and try to minimize the risks. It was their dream to have a child, and I can empathize due I love my children. If the specialist came to the conclusion that the pregnancy might

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

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.

Vignette 1 for Developmental Delay: Demetrius is a 41 month old boy. He is an only child and lives with both parents who remain married to date. Demetrius currently resides in a split-level home, with 6 steps leading to the upper level and 9 steps leading to the lower level. His family has limited financial resources, no close relatives that live within a 1-hour driving distance, and few local community contacts. Demetrius has recently been referred to a nearby Children’s Treatment Centre to address functional issues stemming from developmental delays in multiple domains: gross and fine motor, functional emotional, and communication and language. Demetrius was diagnosed with global developmental delay at 38 months of age and is currently being

Old Grandma, unlike Auntie, does accept Tayo and wants what is best for him. When Auntie rejected the idea of a medicine doctor because he's not "full blood", Old Grandma got angry and said that he was her grandson and why should she care what they say anyway (33). She has been around for many years and doesn't worry about what other people will say about Tayo or about their family.

The BLS states that the employment outlook for the genetics counseling field is quite promising. They project it to grow at 29 percent until the year 2024, which is much faster than average. Keep reading to learn why the employment outlook for this exciting medical field is so good.

The purpose of this paper is to complete a Genetic and Genomic Nursing Assessment to analyze family genetic health risks. Genomics is the study of genes in the human genome and their interactions with each other and the environment and genetics is the study of individual genes and their effect on clinical disorders (Kaakinen, Coehlo, Steele, Tabacco, & Hanson, 2015). Nurses should be able to perform an assessment of a family 's genetic health risks by using a three-generation family pedigree to obtain information regarding possible genetic inheritance pattern and recurrence risks. The family chosen for this paper has a history of chromosome balanced and unbalanced translocation. A balanced translocation is a chromosomal abnormality that if unbalanced (too much or too little genetic material) can lead to infertility, multiple miscarriages, or a child with congenital abnormalities, developmental issues, etc. A balanced translocation does not have a straightforward inheritance pattern. It depends on the chromosomes involved, if the carrier is a male versus female and how much genetic material is involved in the translocation itself.

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

Focus: Taliana’s family will learn and utilize healthy communication skills to assist Taliana towards reunification with biological family. Ms. Smalls (MHS) and Mrs. Clark (MHS) discuss Taliana willingness to reunify with biological family.

October 2000 - A child conceived in part to provide therapeutic tissues for an earlier-born sibling is born; techniques of preimplantation genetic diagnosis are used to ensure that the child does not itself carry the disease

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.

It can also be used to test for Tay-Sachs Disease, Fragile-X Mental Retardation, Cystic Fibrosis, Down Syndrome and Spinal Muscular Atrophy. In the past couples who wanted to have childr en, and were carriers of inherited diseases, worried about the possibility of their children inheriting the disease. Parents will no longer have this worry. In 1989, an English couple became the first to use PGD [Grady,1995]. It was used because they were at risk of passing along a form of severe mental retardation. Because it only affected sons, PGD was used to ensure that the couple had a daughter.