Genetic Disorders: A Personal Narrative Of My Life

The perfect combination of research, personal connection, and health care. Genetic Counseling is the practice of informing and advising patients who may have a potential risk of genetic disorders concerning appropriate testing methods, medical treatment, and many other critical decisions concerning their health. I have chosen to pursue the career of genetic counseling because it fulfills the dream I have had that I will one day be able to do research concerning genetics and interact with the patients that the research would affect. My decision to become a genetic counselor has been influenced by many factors; including my high school biology class, which played a part in introducing me to the profession, and my personal discovery of the unique

In order to review their inherited genetic risks and help them understand and provide counseling according to their specific needs the genetic counselor should know the Trosacks ' have already established that their unborn child has Tay Sachs disease and based on those needs they should be provided with appropriate guidance and counseling as they progress through their pregnancy. The discussion should include what causes genetic disorders, and what that means to the Trosack couple specifically, including dominant, recessive and x-linked disorders. However, recessive disorders should be fully discussed in this case. Another topic to include in the discussion are what genes and chromosomes are, and the relation to Tay Sachs disease.

Down syndrome is a genetic disorder that numerous individuals around the world suffer from; it is an intellectual disability that is caused by having one too many chromosome 21 copies, trisomy 21. The average person has two copies of chromosome 21 in each cell, whereas, an individual with Down syndrome has an extra copy of chromosome 21. This happens when either the sperm or egg cell undergoes atypical cell division during development. In the United States, there are approximately 400,000 individuals who have been diagnosed with Down syndrome, according to the last census in 2012 (National Down Syndrome Society).

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.

“Your heart is the center of infinity. Hold the passion and intention in your heart and stretch your body in opposite directions.” In yoga, these words help me focus on the physical awareness of my body and attain a greater stretch. In terms of my career, these words help to describe the path I have taken towards entering graduate school. Once I set my heart on genetic counseling, I obtained all of my experiences through the passion and intention I have to be a leader in the field. I will never forget the first patients I took pedigrees with; a non-native English speaker and a Chinese deaf couple with ethnic and cultural value systems. The challenges inherent in obtaining family histories in these cases quickly proved that each interaction

Our family’s life is completely different than others due to my mom’s disease, but I have known no other way of living. My mother has had M.S. since she was in college, so I was born into a world with motorized scooters and walkers and extra precautions. This is my norm. And while other people may pity my mother and our family, I see no reason to be down. I could spend all my time harping on the drawbacks and my ”missed opportunities,“ but what fun would that be? I will always find the silver lining.

The reading shows disease and inheritance in an entirely new light. It introduces the idea that genetically inherited diseases may have been selected for, which means that they must provide certain evolutionary advantages. It reorients the reader’s perspective about a disease like hemochromatosis, which has the potential to be incredibly harmful and even deadly, establishing that it may have once provided protection from the bubonic plague, making it an advantageous trait. This brings other genetic diseases into question, examining why diseases that appear to be harmful have not been eliminated from the gene pool. The idea that a disease that is harmful and dangerous in modern times could have once been a beneficial adaptation is very interesting.

I have overcome many obstacles within my life and I am proud of where I am today. To start, my full name is Samantha Heart LeClair. I was brought into this world on December 21st 1995, in Kingston. I moved to Sydenham for four years at which time my family returned to Kingston. I have attended three elementary schools, two high schools and now two colleges. I am currently taking the Community Service Worker (CSW) program at Trillium College. In elementary school, I played soccer and basketball, and was involved with the track team. For extracurricular activities, I tried hip-hop dance classes, ballet classes and piano classes. My family is limited, but the ones who are an active part of my life mean the world to me. I was raised to believe family comes first and in the end, family will be there. Throughout my life journey, I have come to realize this is very accurate. My family consists of my mom, brother, stepdad and son. My mother is my best friend. She has always been there to support every decision and bring light on my dark days. My brother is three years older than I; we have had many falling outs, but he is still one of my closest friends. My stepdad (Dan) isn’t just a stepdad; he is my dad. Dan has been a better father figure than my biological father, which is why I consider him my actual father. It takes more than just creating a life to be a father; it takes good parenting, patience and love to be one. My son, Noah, is an amazing blessing. He is what

The changing of Genetics has been around for awhile now, ever since the 20th century it is a set of beliefs and practice that aims at the improving the genetics quality of a human population . there was this mad scientist who stayed in a wooded house, that looked as if it was haunted , in the woods , he had been bullied all his life and once was even called “different and too ugly for society “, but when he got the head coaching job at YCHS every changed .

Even as a young girl, I have always been fascinated with how the world works and the gears that make everything flow in perfect harmony. Because of this, I have taken 7 credits worth of science courses during my high school years and have also participated in many extracurricular activities in the name of science. Other than science, history (specifically ancient and medieval) and music have been interesting academic subjects to my brain and heart. I enjoy lectures and learning about how the world has developed, both scientifically and socially. Due to specific events I have experienced throughout my life, my career goal is to become a geneticist to better understand genetic disorders and how I could possibly treat them. The anatomy and internal

There was a point when it was hard for me to understand why this disorder had to happen to me. I come from a close-knit family and this not only affected me but my parents and extended family. I became apprehensive and afraid. The struggle with wanting my independence and the fear of being alone if I had a seizure kept me in a state of constant turmoil. Not knowing of why or what caused these seizures or if I had done something to cause them weighed on my mind. Things that came easy to me and that I enjoyed doing became a struggle for me. Due to the medicine my behavior and mood swings were altered. I was a good student, volunteered any chance I got, was active in every club and organization at school, showed animals, and played almost

For ten years I lived a very simple life I grew wanting to become a teacher. I always knew that I wanted to help others. On my tenth birthday my world changed forever. December 31st, 2006 I was In a car accident nobody was seriously hurt. I'll never forget in that moment I saw the car coming I threw my hands over my little brother car seat to protect him. When the vehicle hit our car I could feel my knee hit the center console. When I went to the doctor the X-rays came back nothing was wrong just a really bad hit. As time went I noticed a constant pain in my knee. Days turned into weeks and weeks turned into months something wasn't right. I went to a doctor he put me on crutches and I went to therapy. It wasn't working after no progress I started seeing different doctors. Somebody had to have a answer. a

There was a point in time where I had no intention of getting better. My constant visits to the doctor were not that reassuring either. At this point in my life I had stopped caring about anything and everything. Yet there I was the second—maybe third, time that month waiting for the white slip of paper that got me out of classes. My parents sat on either side of me making sure I did not bolt from the room, as they tried explaining to the doctor how much progress they thought I had made. Though none of what they said was true, I still gave them credit for trying. Their lack of knowledge on my mental state was in no way their fault. In fact it was mostly mine, considering that back then they barely saw me during the day, partially

There are a few challenges that come to mind about entering the field of genetic counseling. I know that clinical genetic counseling can become very emotionally taxing. There is a lot of uncertainty in the field of genetics. It can be a struggle to provide support for patients and their families when there may be no definitive solution to their predicament. There is the potential to become too emotionally attached in a given situation. It is important to provide the support for your patients while maintaining an emotional and professional distance. Everyone has their own biases. As a genetic counselor, it is imperative that we acknowledge our biases and try to move past them in order to give the best care to our patients.

Although I gained the knowledge to be a more stable and positive individual, something was still missing in my life. The missing piece soon fell into place upon the birth of my twin boys, Irijah and Isaac. A multiple birth was a miracle within itself. It seemed unreal because no one in my family was ever blessed with two babies. Although it took a lot of adjustment, we made it through the baby period. The hard part did not come until they became toddlers. (During this time), I noticed complications (in the development) (of the twins). I soon learned that although they were perfect on the outside my boys were suffering with autism. Irijah is severely autistic while Isaac’s is mild. I knew that in order to conquer this obstacle, changes would have to be made. In the beginning I was unaware of what needed to be done, but I never gave up. I continue to fight for my boys and struggle to keep my sanity. This has been the toughest fight of my life because it involves a series of changes. These changes dealt with acceptance, transition, and adaptation. These were necessary steps because it gives the boys a chance to lead a somewhat normal life. Through the love of my sons, I have learned to adapt to change and have gained strength and perseverance that is necessary in life.