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Congenital Insensitivity to Pain with Anhidrosis

Essay by   •  March 8, 2011  •  Research Paper  •  1,242 Words (5 Pages)  •  1,550 Views

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Congenital Insensitivity to Pain with Anhidrosis

Congenital Insensitivity to Pain is a very amazing disease. I chose to report on the specific section of it dealing with Anhidrosis because this also leaves the infected individual with the inability to sweat. This causes problems such as fevers and overheating from over exertion or external heat which in turn can cause brain damage. Many people affected by this disease die before the age of twenty-five from infections left untreated, metal retardation, overheating, and freezing. This leaves the field of exploration in finding a cure very narrow because people treated die too early to show direct connections to any of their treatment.

Congenital Insensitivity to Pain with Anhidrosis (CIPA) is an extremely rare hereditary disease with many side affects. This life threatening disease is so scarce that, according to reports, there are only seventeen to thirty-five occurrences in the United States, with approximately one hundred cases reported around the world. CIPA belongs to a family of Hereditary Sensory and Autonomic Neuropathies (HSAN). It is also known as HSAN IV. The disease affects individual’s autonomic, sensory, and motor functions. CIPA arises through a mutation in the TrkA gene which directly affects the nerve growth factor (NGF). NGF allows humans to feel the sensations of intense heat, freezing cold, and/or pain. Without such feelings, people with CIPA usually appear fearless or insane. They may play in the snow in a t-shirt, drink boiling tea, or walk on broken feet without the slightest notion that something is amiss. Their bodily temperature can be raised to the point of heatstroke by just moving around or playing a game, so the persons affected by this terrible disease must stay out of direct sunlight and keep their temperature down between sixty-eight and seventy-two degrees. Their lack of sweating gives them a thick, rough, and almost leathery skin that makes them more prone to infections and cellulitis, a bacterial infection involving the lower layers of the skin. The children who have CIPA also maim themselves often with their own teeth, causing them to lose their fingertips, pieces of their tongue, and even parts of their lips. In many cases the children’s teeth are pulled so that they may no longer harm themselves without being aware of it.

Without having their mouths intact, it can be extremely hard for CIPA patients to eat. The taste buds on an infected individuals tongue can no longer taste due to the thrashing they’ve taken from the teeth so food no longer holds a great meaning for them. The lack of proper chewing teeth limits what the individuals can and cannot eat, it is a difficult task to eat a meal without chewing, and these persons must do it every day. Even if their mouths weren’t being destroyed, the disease would still cause trouble with regular eating habits. CIPA rids people of pain, and so they feel no pain when they are hungry and their bodies need nourishment. Some people prefer to be fed by feeding tubes instead of feeding themselves, but for those who choose to fend for themselves, eating is more of a learned behavior than a choice.

Going to the restroom is also a major issue in CIPA patients’ lives. Many of them have gastrointestinal motility, causing frequent constipation. The sensation that people without Congenital Insensitivity to Pain with Anhidrosis get previous to going to the bathroom is not very strong in people with Congenital Insensitivity to Pain with Anhidrosis. Because they do not know when they have to go to the bathroom, they are more prone to have accidents unknowingly. Usual toilet training teaches children to try and go to the restroom every two hours, but nothing can be guaranteed as to whether or not this will prevent all accidents. In this situation, going to the restroom and eating are the same, they are both annoying things that CIPA patients do not feel the need for but must do to survive.

People affected with CIPA usually have bodily problems and are unaware of it. Their inability to experience pain lets them overuse their bones and joints leading to fractures and dislocations. They usually inspect themselves for bruising and swelling and if either is found it is closely watched and investigated. They cannot tell what a good water temperature would be for a bath, or washing dishes, or even drinking. Being without the immediate knowledge of a wrong bodily function or bodily harm, leads to many of the deaths of the infected people.

CIPA patients have an absence of normal responses to noxius stimuli

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