Personal Narrative: A New Person With Huntington Disease

Huntington’s Disease is a brain disorder affecting movement, cognition, and emotions (Schoenstadt). It is a genetic disorder generally affecting people in their middle 30s and 40s (Sheth). Worldwide, Huntington’s disease (affects between 3-7 per 100,000 people of European ancestry (Schoenstadt). In the United States alone, 1 in every 30,000 people has Huntington’s disease (Genetic Learning Center). Huntington’s Disease is a multi-faceted disease, with a complex inheritance pattern and a wide range of symptoms. There is also much research being done in the field of Huntington’s disease, because as of 2012, this disease is untreatable. THESIS.

The genetic disorder is caused by a mutation in the DNA segment CAG found in chromosome 4 which results nerve cell death. Phenotypic characteristics include gradual motor dysfunction, psychological issues that correlate to degeneration of metal health, and cognitive degeneration. Studies on transgenic mice have allowed a better understanding of the proteins that relate to Huntington’s

On 5/21/16 at approximately 2024 hours, Officer Acosta #0044 and I responded to Huntington Memorial Hospital, (HMH), for a report of a battery. The comments of the call stated, “IN ER RM #18, VIC IS 25 YO MALE ASSAULTED WED AT LA PINTO PARK BY UNK SUSP, ADV HE WAS HIT IN HEAD W/BAT AND HAS A PUNCTURE WOUND TO THE LIP. VICTIM IS EDGAR LARA DOB 10-02-90.”

Huntington's Disease is a genetic autosomal disorder which effects the brain. It affects about 1 in 20,000 individuals. The symptoms of the disease do not start to occur until after or around 40 years of age. With the onset of the disease the patient starts to gradually deteriorate intellectually, this deterioration also causes involuntary movements. Scientists have only recently found the section of the gene which causes Huntington's disease, and this is allowed them to devise pre-symptomatic tests. However, a cure for the disease is yet to be found.

Huntington's Disease (HD) is an autosomal dominant, progressive, neurodegenerative disorder (Walker, 2007 and Harmon, 2007). The gene that causes the disease is located on the fourth chromosome and causes an abnormal number of repeats in the patient's genetic code (Harmon, 2007). Huntington's Disease can have devastating effects on patients' quality of life. The first symptoms of HD generally start between the ages of 30 and 45 and patients are typically asymptomatic prior to this time (Terrenoire, 1992 and Walker, 2007). However, the disease progresses with subtle changes in motor control, personality, and cognition. Patients eventually develop distinct

Huntington's Disease is a devastating and progressive neurological disorder that resu lts primarily from degeneration of nerve cells deep in the center of the brain. The condition was first described by George Huntington, a physician in New York, in 1872. Even then, the physician recognized the all-encompassing factors of the disorder when describing it as, "coming on gradually but surely, increasing by degrees, and often occupying years in its development until the hapless sufferer is but a quivering wreck of his former self".

The panic settles in again as my stomach feels like it is twisting in on itself. I do not have any questions left. I can only use the evidence. I grab his MRI on the table and stare furiously at it. Every nook and crevice of the brain must be examined. I cannot miss anything. I have one minute left.

Huntington’s disease begins affecting the organs, it destroys the function of the multiple roles of the nervous system and the brain cells. The disease causes advanced deterioration and loss of brain cells, and contributes to a devastating loss of motor functions followed by advanced cognitive and intellectual impairment.

“An Interview with Dr. Nancy Wexler: Discovering the Huntington Disease Gene.” HD Insights, Huntington Study Group, 2012, chrome-extension://ecnphlgnajanjnkcmbpancdjoidceilk/content/web/viewer.html?source=extension_pdfhandler&file=http%3A%2F%2Fhdsa.org%2Fwp-content%2Fuploads%2F2015%2F02%2Fhd-insights-volume-3.pdf. Accessed 15 Dec. 2017.

Huntington's disease is an inherited genetic disease which can’t be cured. (Staff, M. C , 2014) Huntington's disease is caused by an inherited defect in a single gene. A parent with a defective Huntington gene could pass along the defective copy of the gene or the healthy copy. Each child in the family, therefore, has a 50 percent chance of inheriting the gene that causes the genetic disorder.Huntington’s disease has a broad impact on a patients’ functional abilities and thinking and psychiatric disorders. They get involuntary jerking or writing movements (chorea), have difficulty organizing tasks and learning new things. (Staff, M. C , 2014) Patients act like the girl in Andersen’s fairy tales

Huntington's disease is an autosomal dominant disorder, which is found on the # 4 chromosome. George Huntington discovered it in 1872. It mainly has an effect on the nervous system. There are around 210,000 bases between D4S180 and D4S127. The disease itself is found in 2% of people in their childhood, and in 5% of the people they were older then 60. (Miller p 16) In the majority of the affected people the disease is detected between the ages of 35-45. In males the disease begins around the time of their childhood. However, in females it begins later in life. This severe symptom has a tendency for the condition to worsen as it is passed on from generation to generation. Huntington’s disease is paternally

4. “Huntington Disease - Genetics Home Reference.” U.S. National Library of Medicine, National Institutes of Health, ghr.nlm.nih.gov/condition/huntington-disease.

Everyone can relate to the pain of having to watch a grandparent or great-grandparent slowly loose their faculties as they advance into older age. Now, imagine if this seemingly slow digression hit hard and fast at only age thirty. The age where one is finally living alone and independent, with the beginnings of a successful career and the hopes of starting a family and settling down. Huntington’s Disease quickly takes all these dreams and ambitions away, along with control of ones body and mind. The symptoms of Huntington’s, such as involuntary muscle jerks or twitches, had been seen throughout history for many years before being first recognized as an inherited disease in 1872 by Dr. George Huntington (“Hope Through Research). “The hereditary

Huntington’s Disease is a dominant, autosomal, neurodegenerative disease that results from excess CAG repeats on the human chromosome 4. These CAG repeats code for a protein named Huntingtin, and patients of Huntington's Disease have a mutated form of it. Symptoms begin to appear in one’s middle ages and continue to progress over a span of about 20 years. It leads to loss of mental ability and muscle coordination, as well as increasing one’s vulnerability to depression. Those who develop Huntington’s Disease cannot be cured, but there is treatment to reduce the mental and physical effects. Genetic advancements in both testing and treating Huntington’s Disease have provided hope for families with a history of this disease, but it has

Rooting back to the middle ages the now commonly known Huntington’s disease is the cause of death in one out of 15000 people around the globe. The disease’s existence is documented through history under many different names depending on the amount of information that was gathered through the unusual progression of the disease. The disease was referred to as Chorea initially due to the jerky movements of the patients affected by it. The first thorough description of the disease surfaced in 1872 as George Huntington whom the disease is named after today presented a detailed definition of the disease through his first paper. George Huntington was able to accurately detect the pattern of inheritance of an autosomal dominant disease by examining the combined medical histories of a family that clearly suffered from the disease through generations. The disease could not be studied further until the rediscovery of the Mendelian Inheritance in the 20th century that allowed scientist to look further into the autosomal dominant disease.