Seckel Syndrome Case Study

The purpose of this paper is to discuss the hereditary genetic disease Tay-Sach’s, discovered during a pregnancy. The discussion will focus on developing an interdisciplinary team and care plan for the expectant parents based on their wishes. This paper will also cover any ethical and/or legal dilemmas that may arise as well as identify counseling needs of those involved. In addition, there will be a personal reflection about high risk pregnancy, abortion, and the decision made by the expectant parents.

Shadowing Dr Anderson allowed me to encounter the day to day problems faced by a physician. I've learned about genetic disorders and their symptoms, but I got to see how diagnosis is rarely that clear cut. Most of the patients presented with developmental delay, a symptom common to many genetic disorder. Variable expressivity and penetrance further complicates differential diagnosis. Genetic testing is required for confirmation, yet almost never covered by insurance. Out of pocket costs can be too expensive for many families to afford. Without a confirmed diagnosis, it's difficult for families to get the needed support from insurance and the government. Dr Anderson tried to avoid going through insurance by enrolling her patients in clinical

The case of Jennifer and Jianshe Li would be extremely challenging and difficult for any counselor/therapist to handle and guide the couple through; furthermore, the goal would be to guide the couple thorough the difficult decisions they have to make regarding Jennifer’s prognosis and pregnancy.

This case study talks about a couple, Mark and Cory who are dwarfs. They are afraid of becoming parents to a child who is different from them. They feel like if their child is not born like them they wont be capable of taking care of that child. Since they are little people they have made many arrangements in there living environment that suites their lifestyle. They also mention that being little is part of their culture now and that their lives should be seen as dignified as the lives of others. Mark and Cory decided to talk to a genetic counselor about the likelihood of PGD and how this might give them the opportunity of having a child just like them. However when they meet with the genetic counselor he ask the couple to consider

General Health State (present weight – gain or loss, reason for gain or loss, amount of time for gain or loss; fatigue, malaise, weakness, sweats, night sweats, chills ): She currently weighs 110lbs. No weight loss. She is well developed and nourished. No distress. States she has always been healthy, other than occasional constipation.

Circumstance: Liam will be healthy and free from severe impairments from the diagnosed DiGeorge Syndrome. Ms. Smalls (MHP) and Ms. Wigfall (MHS) discuss any health problems.

It is 7:11 on Friday night, the first of March 1996, in room 112 of Mercy Hospital in Portland, Maine. Married couple, Chris and Veronica Meserve of Steep Falls, Maine are welcoming their second daughter into the world, Shawna Irene Meserve. She will grow to be a physically and developmentally healthy being because of, among many factors such as her genetics, the circumstances and significant relationships surrounding her birth. Starting at the beginning of Shawna’s parents’ relationship, these circumstances and significant relationships surrounding this infant’s birth will be highlighted and analyzed to determine how they may have affected her very early development.

She reported having a normal delivery, full term with no complications; developed normally. Major events: none. Nutrition history: fair. Social history: Currently lives with 2 children in her mother’s house, separated with ex-husband, who is in jail and plans to get a divorce.

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

Dear Patient, I'm sorry to inform you but your daughter has Achondroplasia, a growth condition your child has been born with. 1 out of 15,000 births in the United States experience this condition like your daughter ( National Institutes of Health. (n.d.). The reason this happen is actually unknown, the only way we can see this birth defect happiness is when either your husband's sperm or your egg was effected before she was born. ( Mayo Clinic Staff. (2016, April 03). the Symptoms are twisted elbows and feet, a abnormally long or short trunk, and the height under 4 feet 10 inches. ( Mayo Clinic Staff. (2016, April 03). The way we spotted this condition was when you had your ultrasound and found the fetus had shorten bones, we had a Amniocentesis test and it confirmed Achondroplasia. (March of Dimes. (April, 2013). Sadly Achondroplasia is not curable but to take some steps to improve your daughters health are hormone therapies to help increase bone growth or you can have surgery to add gaps in her bones to grow. (Mayo Clinic Staff. (2016, April 03). The best thing in my opinion as a professional is to treat her as a normal person and to help her in time of

Edward’s Syndrome is the second most common of the trisomy disorders, following Trisomy 21 (Down syndrome), but does not happen very often in developing fetuses. It occurs once in every 5,000 live-born infants, and most of these infants are female. Many times, the fetus that is affected with this disorder will not make it the full nine months. Other times, if the infant is born with the disorder they will only live for about a month or less. This disorder is seen more often when older women are pregnant, rather than young mothers. 10 percent of individuals with trisomy 18 will live past the first month, and some can even live into their twenties with severe developmental conditions and disabilities. The actual

The mother reports having a normal pregnancy with no complications, and that her pregnancy was easy. This was the second child for the mother, who has another child who was five years old at the time. The mother also disclosed that at the time of the pregnancy she was in the process of separating from the child’s father and that this caused a moderate level of stress. At the time of the pregnancy the mother was also working full time as waitress in a local restaurant, the mother reports that her job required she be on her feet for a long period of times, but that she was able to work until around a week before her child was born. The mother reports that the child was born around two weeks early but that labor was easy and the child was

The results indicate that their baby is a female with Turner Syndrome. This condition is caused by a missing X chromosome and results in short stature, ovarian failure, and medical problems involving the heart, thyroid glands, and kidneys. Some of these conditions can be treated and managed with great success. The question that arises after diagnoses

Visualize a world where you can be several feet smaller than an average person. This is what Meier Gorlin Syndrome, or Primordial Dwarfism, is like. The victims of this rare genetic disorder develop many malformations and dysfunctional parts in their body while in the womb of their mother. The child diagnosed with Meier Gorlin Syndrome inherited this disease by two parents both carrying a mutated chromosome 21. The recessive genes in the parents came together and effected the offspring. There are several symptoms that include a short stature, or being well below the average height, small chin, head, and mouth, missing or undeveloped patellas, or kneecaps, low ears, full lips, and problems in the urinary tract. (kidneys, ureters, and bladder.)

Per grandmother, the client’s pregnancy, and delivery were normal. The grandmother recalls that Keisha’s developmental milestones were reached appropriately, including basic motor skills such as crawling, walking and fine motor skills such as writing. According to the client, she experienced an accident when she was nine years old. The accident affected her brain causing her to experience a coma for more than a month. It took her several months of rehabilitation to be able to return back to school. Keisha reports fatigue and/or loss of energy very often. Even after sleeping for more than twelve hours per day she feels tired every morning. She has been feeling this way for more than three years. Furthermore, the client reports that she has poor appetite, eating one or two meals per day. Due to her decrease in appetite the client reports that she lost about ten pounds since last year. Keisha mentions that her appetite has decreased since she started high school. Per client, her father abused drugs when he was younger, which included heroin and crack. She is unaware if father continues abusing drugs. Per client, her mother did not abuse any drugs while she was alive. The client reports no allergies, traumas or chronic diseases affecting her