HIRAETH
Congenital Analgesia
The Conundrum of Feeling No Pain
Have you gotten yourself a few injuries or bruises from either sliding or tripping over? Did you fall in love and ended up breaking your own heart because of false hope? How many times have you hurt yourself? The feeling which dominates whenever you get engaged with such scenarios is called pain.
Pain is an uncomfortable feeling that tells you something is wrong. Have you ever wished of getting rid of "pain"? Not so fast, because you might get yourself into a trouble. If we cannot feel pain anymore, then we cannot also sense the lurking dangers around us. And, that is how the people with congenital analgesia live their lives everyday.
Congenital analgesia, which is also known as congenital insensitivity to pain, is a genetic disorder that inhibits the ability to perceive physical pain and displays a complete loss of the sense of smell (anosmia). Research shows that there were 40 registered cases of the condition in one of the villages in Sweden. From birth, affected individuals never feel pain in any part of their body when injured. People with this condition can feel the difference between sharp and dull, and hot and cold but cannot sense, for example, that a hot beverage is burning their tongue. This lack of pain awareness often leads to an accumulation of wounds, bruises, broken ribs or bones, and other health issues. Reports show that children with with congenital analgesia have mouth or finger wounds due to repeated self-biting and may also experience multiple burn-related injuries. These repeated injuries often lead to a reduced life expectancy.
A documentary about Steven Pete and his brother showed their struggles and near death experiences due to this disorder. Steven Pete chewed his tongue while teething, and that is how he got diagnosed. He had underwent a series of tests, such as putting a cigarette lighter on his foot until it blistered, and running of needles up and down his spine. He also said that there was a time that he went on roller skating and broke his leg, but he did not feel any pain. People were pointing out his pants, because it was already covered in blood from where the bone came out. At a certain point, he had also chewed off a quarter of his tongue.
Causes
Congenital Insensitivity to pain is considered a form of peripheral neuropathy because it affects the peripheral nervous system, which connects the brain and the spinal cord to muscle and to cells that detect sensations such as touch, smell, and pain.
According to a recent research, Mutations in the SCN9A gene, which is also found in olfactory sensory neurons, causes congenital analgesia. This gene provides instructions for making one part of the sodium channel (NaV1), and when it fails to do so no channels would be formed. The absence of NaV1 channels impair the transmission of pain signals from the site of injury to the brain. In rare cases of in-born analgesia caused by mutations in the PRDM12 gene, the patients have a normal sense of smell, predisposition to infections and a greater incidence of corneal abrasions due to a lack of tear production.
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This condition is also inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.