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Huntingtons Disease

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INTRODUCTION

Many people are blessed to have lived a long, healthy life in a world full of detrimental and deadly diseases. However, not everyone can say the last years of his or her life were even remotely close to healthy. Losing someone you love and care about to natural causes is sad enough as it is. Losing someone to a disease that progressively incapacitates your mental and physical capabilities is something entirely different. An example of such a malignant disorder is Huntington’s Disease, an inherited, degenerative brain disorder that is now diagnosed in 1 out of every 10,000 Americans. Huntington’s Disease Society of America is a voluntary, non-profit health organization dedicated to facilitate the lives of those who have inherited the disease by promoting and supporting scientific and medical research in hopes of developing a treatment or cure. The purpose of this report is to inform the community about the value and importance of the HDSA’s mission and goals and the impact it will have on the victims of this destructive brain disorder.

What is Huntington’s Disease?

Huntington’s Disease as defined by the Huntington’s Disease Society of America is “a devastating, hereditary, degenerative brain disorder…[that] slowly diminishes the affected individual's ability to walk, talk and reason.” Essentially, the victim loses capability of all motor skills and causes involuntary muscle movements, leaving them fully dependent of another person. Involuntary muscle movements are neurological abnormalities, meaning they have absolutely no control over any sort of muscle including movements in their hands and feet to the expressions on their face. A victim’s movements are usually quick and sudden jerks, which are signs of Chorea. Some people develop choreic movements later, after the disease has progressed. Signs that they have developed HD are obvious when they appear to stumble and lack coordination. Because Huntington’s Chorea, or Huntington’s Disease, causes motor skills to become impaired making it difficult to walk and maintain balance. In later advanced stages of Huntington’s Disease, patients will lose their short-term memory, making it difficult for them to remember anyone or anything. Some individuals are misfortunate enough that they cannot recognize their own family members. Huntington’s Disease is not prejudice and affects men and women of all races around the world.

Understanding the Cause of Huntington’s Disease

The disease was named after Dr. George Huntington for his studies on chorea, an involuntary muscle movement disorder. He first described the hereditary disease in one his two scientific papers in 1872, which led scholars to take note of his work. In 1983, the disease was traced to a gene on chromosome 4, where a mutation occurs. It has since been discovered the gene inherited by either parent is autosomal dominant, meaning each child receives a normal copy of the gene but does not necessarily inherit the disease. Both parents pass on one normal copy of the gene but it is the faulty gene that determines the inheritance of the disease. Basically, each child has a 50-50 chance of developing HD. This all occurs in the part of the brain that is responsible for movement, emotion and cognition, which is called the basal ganglia. This is where the disease damages and destroys cells, leading to some of the symptoms of Huntington’s Disease.

Signs of Development

Symptoms usually become apparent in people between the ages of 30 to 50 and develop gradually over a 10 to 25 year period—though there have been reports of onset as early as two years old. The severity of symptoms differs from person to person and signs of HD vary widely. Behavioral symptoms are often first to appear, but there is really no order in which they become apparent. Scientists have observed that the earlier a patient is diagnosed with the disorder, the faster the advancement of the disease is.

Symptoms include:

Behavioral Changes * Unusual mood swings * Increased irritability * Depression * Anxiety | Motor Skill Impairment * Uncontrollable muscle movement * Lack of coordination * Difficulty with swallowing, speaking & walking | Cognitive Ability * Confusion * Forgetfulness * Impaired judgment * Have trouble with intellectual tasks with learning |

An affected person will display noticeable changes in behavior such as exaggerated aggression and anger. The patient may begin to abuse drugs and alcohol and become careless as the disorder worsens. As the disease gradually progresses, the ability to concentrate and remember things diminishes and the affected person can no longer converse while making logical sense. Spatial perception is also disturbed and a patient cannot determine location and distance. An example of diminished spatial perception would be a person constantly running into furniture. Eventually, it is common for physical symptoms of involuntary movement to lead to a patient’s confinement in a wheelchair in advanced stages. By this stage, a person will require a person to tend to them, even for simple tasks such as getting dressed or using the restroom. Huntington’s Disease is a devastating brain disorder that not only destroys the person affected, but also friends and family involved in the patient’s care.

Statistics

Unfortunately, Huntington’s Disease has become one of the most common genetic disorders since its discovery in 1872. It is estimated that around 30,000 Americans have been diagnosed with HD, but the disease proves to be destructive for many more people. On average, about 1 out of every 10,000 Americans have inherited HD and another estimated 150,000 to 250,000 Americans have a 50% risk of inheriting the disorder. However, the United States is not the affected the worst by this malignant

disorder. Approximately 17 out of every 100,000 people worldwide have been diagnosed, most commonly in Western Europe. On a brighter note, the HD gene does not skip generations. Therefore, if a person never developed the disease in his or her lifetime, his or her offspring will never develop it. Huntington’s Disease was once considered a rare genetic disorder, but now is recognized as one of the most common. Fortunately, victims of this destructive brain disorder are not forgotten and organizations have been created to facilitate the lives of those affected.
HUNTINGTON’S DISEASE SOCIETY OF AMERICA

How it Came to Be

Figure 1 illustrates how an autosomal dominant trait is passed on from parent to child.
Figure 1 illustrates how an autosomal dominant trait is passed on from parent to child.
The Huntington’s Disease Society of America (HDSA) is a non-profit volunteer health organization that works to facilitate all persons affected by HD, including the patient and his or her friends and family. Marjorie Guthrie founded the organization in 1968 after losing her husband and well-known folk legend Woody Guthrie to his fight against the malicious disorder. Marjorie searched for other families battling against Huntington’s Disease. In 1967, the Committee to Combat Huntington’s Disease was formed by a group of volunteers. The HDSA has since dedicated its time to improving the lifestyle of affected persons and has become the largest 501 non-profit volunteer organization for Huntington’s Disease. Today, the organization continues to stand strong with 38 community-based volunteer chapters across the nation devoted to help those families in need of support.

HDSA’s Mission

“Help for Today. Hope for Tomorrow” is the motto the HDSA has written across their “Mission” page to motivate and educate visitors who are learning about the brain disorder. The webpage lists three main reasons for why the organization was created:

1. HDSA is on a mission to destroy the genetic disorder by raising awareness and promoting and supporting scientific and medical research. 2. The Society makes it their goal to facilitate friends and families affected by HD and by teaching them how to cope with the struggles and complications brought on by caring for a person affect by HD. 3. Besides helping patients and their families, HDSA educates the public by raising awareness and offering leadership and guidance.

HDSA’s Goals – Mission in Action Huntington’s Disease Society of America has already accomplished many of their goals. Some of their goals include: * Published new edition of The Physician’s Guide for Management and Treatment of HD. * Launched We are HDSA newsletter in efforts to bring in resources for over 160 support groups * Introduced a bill to the House of Representatives called the U.S. HD Parity Act and made it way into the Senate for the first time. * The Society held 75 Team Hope walks in 20 new communities.

Progress in HD Research The research for fighting Huntington’s Disease never ends. The HDSA has invested over $18 million in research in efforts to develop treatments. The Society has developed a strategic plan for the next four years to grow the organization and The purpose of their ongoing effort is to delay or stop the onset of HD. Researchers are currently working with animal models that will determine the effects of the genetic disorder, the ways in which it affects the body and, if possible, a way to transfer any cure or treatment over to human beings. New funds will allow the Society to become the primary informer of all things related to HD. HDSA will grow public involvement in the development of treatments for those affected, operate much more effectively and maximize revenue to increase the size of the organization.

Treatments and Cure

At this point in time, there is no cure for this disease. There is only one treatment for a symptom of HD and it is called Xenazine. Unfortunately, there is no way to slow the advancement or stop the disorder all together. There exists some medication that can make a patient feel comfortable, but none that will cure a patient. Many doctors recommend anti-depressants and anti-psychotics for behavioral and psychological symptoms. Another recommendation is to seek physical therapy where one can get early assistance with walking problems and help build strength.
CONCLUSION
Opinions

Huntington’s Disease is a genetic brain disorder that disrupts the lives of not only those affected, but those involved in the caretaking of the individual. Caring for someone who cannot voluntarily move, dress themselves and eat on their own take a huge toll on the caretaker—physically, mentally and emotionally. I am fortunate enough to say that this malicious hereditary disease does not run in my family and because the HD gene cannot skip generations, it is safe to say that I am safe. One out of every 10,000 Americans is too many people diagnosed with Huntington’s Disease. Huntington’s Disease Society of America is an exceptional organization that has already improved the lives of many affected families and will continue to do so as long as they have the right support and fund research. As I become more educated in this subject, I hope to assist a family going through the hardships of taking care of a member with HD. As mentioned before, this disease affects the patient and his or her family and as long as there is hope, efforts to facilitate the lives of those affected are vital.

Readability 12.0

Works Cited
Family Caregiver Alliance. N.p., 2013. Web. 27 Feb. 2013. <http://www.caregiver.org/caregiver/jsp/content_node.jsp?nodeid=574>.

Huntington's Disease Society of America. N.p., 2013. Web. 27 Feb. 2013. <http://www.hdsa.org/>.

Lawerence, David M. Huntington's Disease. New York, NY: Infobase Publishing, 2009. 7-37. Print.

Medicine Net. N.p., 2013. Web. 27 Feb. 2013. <http://www.medicinenet.com/huntington_disease/article.htm>.

Panno, Joseph. Gene Therapy. New York, NY: Facts on File Inc., 2005. 13. Print.

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