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There is currently no known cure for CIPA. There are, however, treatments that are focused on managing the symptoms and preventing injuries and infections. With antibiotics, education, and therapy, the harmful effects of this disorder can be managed.
CIPA can cause those affected to form sores within their mouths and over their bodies; this is a result of tissue damage. Antibiotics can be taken to treat infections of the mouth or skin through oral medications or medicated creams.
Patients with CIPA are required to live an altered lifestyle to prevent their greater risks. They are offered Behavioral therapy at an early age as it is most effective then. Here, trained professionals teach patients how to realize dangers and what precautions to take in their everyday lives. (Living Naturally. 2011.).
CIPA will not only affect a person physically but also mentally. As CIPA patients grow, it is apparent they have minor learning inabilities. They benefit from a refined education system tailored to their needs. Communication, social and behavioral skills are often deficient. Often times CIPA patients are placed in special education programing or are delivered education personalized to their strengths and weaknesses. (Living Naturally. 2011.).
Congenital Insensitivity to Pain with Anhidrosis (CIPA)
Fever, self-mutation, insensitivity to pain, low IQ, reduced reflexes, pupillary abnormalities, hot flashes, lack of sweating, aplasia of dental enamel, blond hair, blue eyes and spontaneous tearing.
This disorder is Autosomal Recessive, meaning you must have two copies of an abnormal gene in order to develop this disorder (from both parents); therefore, it is attained hereditarily. If both genes are present you have a 25% chance of developing this disorder and a 50% chance of being a carrier of the gene. (February 12, 2015. Medline Plus.).
As this quick progressing process advances, there are little sensory neurons present. Symptoms begin to become visual to doctors, patients or family members, very early on during development.
Fever- A symptom of Anhidrosis, having a high fever due to the incapability their bodies have to regulate temperature when overheating by sweating.
Self-mutilation- The injuring of oneself. With CIPA, this is very common as patients cannot sense/feel the pain they are enabling. It could be something as simple as biting their tongue to chewing the tip of it off.
Insensitivity to pain- Not being able to feel pain.
Low IQ- Damage of neurons. Not as many signals can be transferred to the brain.
Reduced reflexes- Not having regular reflexes. Someone with CIPA isn't able to feel pain so their reflexes wouldn't know to react.
Pupillary abnormalities- Infections due to excessive scratching and rubbing of the eye.
CIPA is caused by a genetic mutation in the NTRK1 gene, which prevents the proper formation of nerves cells. Nerve cells are responsible for transmitting signals to the brain, such as pain, heat and coldness. (February 18, 2015. Wikipedia.).
The NTRK1 gene is responsible for sending instructions to the NTRK1 receptor which attaches to sensory neurons. If the NTRK1 gene cannot send the instructions to the receptor, the receptor cannot receive them and send signals to the NGFB protein. Basically, a mutation in the NTRK1 gene disables the proteins to send signals. Without proper signaling neurons begin to die off leaving a person unable to feel pain, heat or cold. (February 12, 2015. Medline Plus.).
Hot flashes- Another symptom of Anhidrosis, the patients are not capable regulating temperature so therefor they may become flush and feel hot to others.
Lack of sweating- Anhidrosis is not being able to sweat, patients with Anhidrosis do not have the muscle fibers within their sweat glands allowing you to sweat.
Aplasia of dental enamel- Patients are unaware of the damage they are causing to their teeth because they do not feel the pain sensation.
Blond hair and blue eyes- The majority of CIPA patients are born with blond hair or blue eyes or even both. This is not yet proven as to if it relates to the decease, however suspected to be. (How CIPA works. 2013.).
Congenital Insensitivity to Pain with Anhidrosis (CIPA), also known as Hereditary Sensory and Autonomic Neuropathy Type IV; is an extremely rare disorder (35 known cases in the U.S.). CIPA is responsible for impacting the Nervous System, which in turn diminishes the feeling of any nerve related sensations, meaning; you are not capable of sensing pain, heat, cold or feeling to urinate. Congenital means this condition is present at birth, and is typically diagnosed in the early stages of development. A patient with CIPA does not have the ability to sweat, whereas a patient with just CIP does. (February 18, 2015. Wikipedia.).
People who have this disease usually have thick leathery skin on the palm of their hands or disfigured toenails and fingernails. Also, they can have patches on their scalp where hair doesn’t grow. When they are younger, muscle tone is weaker but as they grow it becomes stronger and normal. About half of the people that suffer with CIPA have emotional instability and intellectual disability. Unfortunately, the severity of this decease takes most patients lives by the time they are 3; from fevers, accidents and injuries. If caught soon enough and if you are extremely cautious you can live longer. However, most patients die before the age of 25. (Genetics Home Reference. 2015.).
People who suffer from this disease, their bones and skin take longer to heal than an average human. Chronic bone diseases like osteomyelitis can result if repeated trauma occurs to the bones.
Self-harm that is unintentional is common, like biting the lips, tongue or nails and can lead to amputation to the area that was affected.
Sweating cools down the body temperature but with this disease seizures and high fevers are brought on because of they're inability to sweat. (Genetics Home Reference. 2015.).
You may think that having this disease would be a good thing and an advantage. Not being able to feel pain? What could go wrong with that? We use pain to tell us something is wrong with our body. If your brain is unable to receive messages that we are in pain, it can become serious to our body because you wouldn’t realize there was something wrong with you. It can result in becoming extremely sick, infections or other diseases.
Fever- A symptom of Anhidrosis, having a high fever due to the incapability their bodies have to regulate temperature when overheating by sweating.
Self-mutilation- The injuring of oneself. With CIPA, this is very common as patients cannot sense/feel the pain they are enabling. It could be something as simple as biting their tongue to chewing the tip of it off.
Insensitivity to pain- Not being able to feel pain.