Rare Diseases

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A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population.

Most rare diseases are genetic, and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30 percent of children with rare diseases will die before reaching their fifth birthday. There is no single, widely accepted definition for rare diseases. Some definitions rely solely on the number of people living with a disease, and other definitions include other factors, such as the e istence of ade!uate treatments or the severity of the disease. Fields' disease is considered to be the second rarest disease "nown to man, with only two diagnosed cases in history. #t is named after $elsh twins %atherine and &irstie 'ields. 'ields' disease is a neuromuscular disease, causing muscular degeneration.()* The disease was first noticed when the twins were around the age of four. +octors have been unable to identify it and have not been able to match it to any "nown diseases. As a result, the 'ields sisters have undergone numerous tests, but no treatment has yet been found. ,o definitive cause has been determined and doctors have generally concluded that they were born with it. The disease does not appear to be contagious. The disease appears to be progressive in nature. The 'ields twins started having problems when they were four years old. -y the time they had reached the age of nine, they were having difficulty wal"ing and needed frames to assist them with wal"ing. Their muscles have been gradually deteriorating over time. The disease affects the twins' nerves, causing them to ma"e involuntary muscle movements such as trembling in the hands. The e tent of the disease is still un"nown as the two women are only ).. /owever, the disease has had no apparent effect on their brains or personalities. Doctors do not know if the disease is fatal and, if so, what the life expectancy of one with this disease is. If the cause of the disease is genetic, there is a chance that the twins could pass it on to their future children. The twins require the use of wheelchairs for mobility and are unable to speak without the assistance of electronic speaking aids.[2 They experience persistent and painful muscle spasms which are worsened by emotional distress. Doctors do not belie!e that they will sur!i!e beyond their teenage years. They are currently li!ing with their parents, with the assistance of hospice workers. Doctors continue to administer tests to the twins in search of a treatment. "uru The a!erage person#s chances of contracting or de!eloping "uru are !irtually nonexistent. To catch this fatal neurological disease, you#d ha!e to tra!el to a remote region in the highlands of $ew %uinea, find one of the few remaining carriers of the disease, and eat his or her brains. Kuru belongs to a rare breed of disorders caused by prions. These abnormal proteins induce irregular protein folding in brain cells. This construction technique leads to flawed brain tissue, resulting in progressive and incurable brain damage.

The term 0"uru0 derives from the 'ore word 0"uria1guria0 20to sha"e03,(4* a reference to the body tremors that are a classic symptom of the disease5 it is also "nown among the 'ore as the laughing sickness due to the pathologic bursts of laughter people would display when afflicted with the disease. #t is now widely accepted that &uru was transmitted among members of the 'ore tribe of 6apua ,ew 7uinea via cannibalism. The condition first emerged in the ).80s and !uic"ly decimated whole villages. Scientists !uic"ly discovered that the only way to ac!uire the disease was through the consumption of contaminated brain tissue. The 'ore followed cannibalistic funeral rites that re!uired them to coo" and eat the dead 99 a practice they believed passed on spiritual aspects of the dead to the living. %losely related females and children consumed the brain and contracted the deadly "uru. $hen $esterners abolished cannibalism in the region, new incidents of the disease disappeared nearly overnight. Scientists haven't discovered new cases of "uru in any 'ore tribesperson born after the late ).80s.

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