The role of a geneticist is multifaceted and dynamic; challenging yet rewarding. In his book Genetic Rounds, Dr. Robert Marion captures the essence of what constitutes the daily life of a pediatric geneticist. His book includes his personal reflections of cases that seemed to have left a profound impact on him. Some stories focus on the puzzle solving aspect of his cases, while others are essentially about the ethical dilemmas involved with his patient care. In this essay, I will research and describe four of the disorders mentioned in the book and elaborate on the most recent diagnostic and treatment options available for one disorder in particular: spinal muscular atrophy (SMA). Included in my research on SMA, I will critique Dr. Marion's …show more content…
Melissa and her parents arrive at Dr. Marion’s office when Melissa is approximately 1-year-old. She is newly diagnosed with a rare genetic disease, and the family is seeking advice on what should happen next. Dr. Marion notes that Melissa appears detached from her parents, who also seem detached from each other. He goes on to explain that Melissa was removed from her parents’ custody at just 2 weeks old due to suspected physical abuse. After finding Melissa screaming in pain and left arm flaccid, her mother, Lisa, had hurried her to the local emergency room. Melissa’s arm was x-rayed and results revealed a fracture of the left humerus. After being questioned extensively by the hospital social worker, Lisa was informed that Melissa was being removed from her custody because they believed that either Lisa or her husband, Barry, was responsible for the arm fracture. To further complicate the situation, additional x-rays that were done while Melissa was in the state’s custody showed “old” fractures of her ribs. Baffled, depressed and now separated from her husband, Lisa began researching what could’ve possibly caused Melissa’s fractures. She stumbled upon a rare genetic disorder called Osteogenesis Imperfecta (OI), or Brittle Bone Disease. She immediately called Melissa’s pediatrician and he agreed to contact the court and advocate for genetic testing of Melissa’s skin in search of diagnosis of OI. In a bittersweet conclusion, a diagnosis of OI Type I was confirmed and Melissa was returned to her parents. Dr,Marion’s postscript follows Melisa until age ten. Between being returned to her parents’ custody and turning 10 years old, Melisa has not suffered another
The family headed out to California to go to the John Tracey Clinic. This was a clinic that specialized in deafness; the family finally thought that they could get the answers that they desperately had been wanting. The audiologist that they met with and tested Lynn was Mrs. Caldwell. First, however the Spradely's met with Dr. Murphy who tested Lynn to see how she was developing mentally and physically. Even though Lynn was not yet walking, she was still crawling well and could walk if she had something to hold her up and walk against. She was helping put her clothes on and besides talking and not being able to hear Dr. Murphy said that she was normal child. Lynn was small for her age so she was physically developing slowly but she was normal. This put the Spradley's at ease for their fear that Lynn was cognitively disabled was gone.
The case of Marci a 22-year-old female college student has several significant psychological, biological, social, and spiritual issues.
Coming from a lonely and abusive home Mary had to find happiness outside of her house. Her mom made a friend from their church and she happened to have a three month year old baby. Mary always occupied the Richardson’s by helping with baby Alyssa, while also distracting herself from reality. Meeting the Richardson’s ended up being Mary’s worst nightmare. One night the Richardson’s went out and asked Mary and her mother to watch Alyssa.
After just over a year of dating, Asher and Melissa began to have many complications and eventually broke up during their second semester. Both claim to be heartbroken and feel that the break up is the others fault. Though neither were emotionally ready for a relationship, Asher is more at fault, for he irresponsibly dated Melissa, a sophomore, knowing he was going off to college the next year, frequently allowed Jane to flirt with him, and was insecure about their relationship leading Melissa to not trust him.
Melissa Barthelemy moved to the Long Island area in 2007 in order to start her own life. Over the two years that Melissa lived there, she was a prostitute and put ads for her service on Craigslist. She stayed close with her younger sister, Amanda, who still lived in Buffalo with their parents. Late on July 11, 2009, Melissa sent a text-message to her sister to confirm Amanda’s visit to see her in a couple days. During the day of July 12, 2009, a local bank had a recording of Melissa depositing one thousand dollars into her account, believed to be from a “date” she had the previous night. Before she left, she withdrew one hundred dollars. The last time that Melissa was seen alive was the afternoon of July 12, 2009 sitting outside her apartment
Gregory Stock, in his article Choosing Our Genes, asserts that at this point not ethics are important, but rather the future of genetic technology. Stock supports his conclusion by providing powerful examples of how genetic modifications can benefit our population anywhere from correcting genes at the time of conception to extending lifespan. He wants to inform his audience about all of the benefits of genetic technology in order to prove that there are way more advantages in this technology that are highly desirable by people of different ages. He reaches his readers by writing a very detailed yet coherent article that brings awareness to various groups of people from parents to be to older populations.
“Thirty-five year old Donna Duckworth is learning how to care for her newborn of five weeks, when she bends over the baby’s crib and feels something give in her back. The next day and the following week, the pain becomes unbearable in her back. She is breast-feeding and does not want to take any medication so she lives with the intense and continuing pain. Within a few weeks, she can no longer stand it so she goes to see her physician who orders blood work, does a complete physical and as a result, sends her to see an orthopedist who x-rays and does a bone density study. The diagnosis comes back as osteoporosis and it is found she has fractured three of her lumbar and four of her cervical vertebra.”
Introduction first step to gather as much information as possible about the person and his or her problems and behavior. In this case, Clara a 4-year-old adopted girl is brought by her parents to see Dr. Mason because they have
Spinal muscular atrophy may present itself in various forms, affecting every stage of life. Consequently, this stretches from the affected fetus exhibiting joint contractures, to a young child who cannot independently sit (type I) and to a young
In the nation which Harrison Bergeron lives in freedom of expression is a fantasy, despite that the government ways of oppression to its population is the method of life. Therefore, John Rawl argued it is reasonable to undergo an effective genetic intervention in the traits of offspring may be morally required as a matter of distributive justice, given that the “greater natural assets’’ of each “enables him to pursue a preferred plan of life”. Nevertheless, is it possible that before George and Hazel Bergeron was “Handicapped” that some measure of safe and genetic intervention may be indispensable as a matter of justice? In addition, Harrison Bergeron traits from his parents may be caused him to rebel against the Government; nonetheless his act of revolt
While in foster care she adapts to new dysfunctional homes and with new rules. She had an unhealthy relationship with her first foster’s mom boyfriend and that foster mom shot her in the shoulder. She was starved in another foster home and began using
Harper Madison is not like other girls. She has extraordinary powers that she can not control which has gotten her kicked out of many foster homes. Looking for a fresh start, her Social Worker moves her to a small town, to a new school, into the last foster home before having to be sent to a juvernile detention center. Though when evidence darws her to a murder, she discovers that this small town has a big secret. Harper, a Sophomore in high school, was very different.
Individuals who inherit this disease will have a rapid progression of symptoms. Walking becomes difficult and skeletal contractures and muscle atrophy follows. They also usually need wheelchairs by adolescence. Half of the receivers of the disease unfortunately develop some form of mental retardation and most never make it past their teenage years. Currently, options for a treatment of muscular dystrophy are limited. Physical therapy may slow down the progression of deformities. Such devices as wheel chairs, crutches, or secondary orthopedic limbs may permit mobility. There are also a few medications that can help relieve pain and stiffness in the muscles. The Muscular Dystrophy Association, the Parent Project Muscular Dystrophy Research and the Children's Hospital of Pittsburgh helped fund a research project for the disease. The research, carried out by Johnny Huard, Ph.D., is looking fairly successful. Scientists are isolating special
There was something strange that strongly stood out when Jeannie Peeper was born in 1958: her big toes were short and crooked. Two months after her birth, a round swelling surfaced on the back of the her head. Her parents didn’t know the cause of it, and after a few days, it disappeared. Then, the Peeper’s mother noticed that she couldn’t open her mouth as wide as her siblings. After taking her to many different doctors, Mayo Clinic discovered that she had a rare disorder. This diagnosis meant that over her lifetime, she would develop a second skeleton, and she would begin to grow new bones that would stretch across her body and some that would fuse to her original skeleton, causing her locked into immobility, within a few years. The Mayo doctors told Peeper’s parents that she would not live long. As she grew older, she realized that she could no longer fit her left hand through her sleeve, because it was locked in a backwards position due to a new bone that generated on her arm. Peeper was taken to the doctors to take a muscle biopsy from her left forearm and had to wear a cast for 6 weeks. Except, it made it worse, because the biopsy and the cast caused her elbow to grow a new bone that frozen the joint, making her unable to move it. Over the decade, as she grew more bones that stretched across her back, locked her right elbow, and froze her left hip, she became accustomed to the pain. Fortunately, she is still alive today with the disorder.
Introduction : Werding Hoffman disease is the most sever type of the spinal muscular atrophy disease ( SMA ) . It is an autosomal recessive disorder characterized by progressive damage of the anterior horn cells of the spinal cord leading to progressive muscle weakness and generalized atrophy . It is caused mainly by homozygous defect in gene called Survival Motor Neuron 1 ( SMN 1 ) .SMA type 1 is one of the most serious fatal disorder that has high prevalence rate & high carrier frequency .Therefore, carrier testing for SMA is very important to be offered to all couples especially parents of SMA affected children. This test will help in future reproductive planning.