Genetic mutation found for congenital insensitivity to pain

There is a girl in the United States who cannot feel any pain. Her name is Ashlyn Blocker and her striking life story is told in The New York Times. Ashlyn was born with congenital insensitivity to pain, a rare condition that doesn't allow her to feel any pain.  She can have any type of physical injury and she wouldn't know it because she cannot feel any type of pain. this is very dangerous because individuals with this condition can harm themselves and would never know anything was wrong with them. In this article, there is also mention of a boy who died because he was internally bleeding and didn't know anything was wrong until he collapsed and died.

Her parents didn't know how to deal with this situation. they didn't know how to raise a child who could hurt herself unintentionally. all of the doctors that they went to didn't know how to deal with this condition. they decided to make their story known to the world in hopes that someone would help them. the media attention attracted Dr. Roland Staud, a professor of medicine at the University of Florida, who had been researching chronic pain for the past 15 years.

He spent years studying Ashlyn's DNA and found 2 specific mutations in her SCN9A gene. the SCN9A gene, when mutated in a different way, causes chronic pain. Dr. Staud is trying to learn how the mutation works so that he may be able to fix the mutation for people who have chronic pain. the connection between this gene and pain sensitivity or insensitivity was found in 2006 in England.

To find out how strong Ashlyn's insensitivity was, Dr. Staud conducted a series of test. he found out that she is able to feel little things such as tickles and pressure. she can also tell the difference between a soft touch and a prick. Unfortunately, she cannot feel extreme temperatures. interestingly enough, she can feel emotional pain. it is now known that not all, but some of the individuals who have congenital insensitivity to pain have a different mutation. the mutation occurs in the NTRK1 gene.

This gene is responsible for the development of the nervous system. it controls the self-injury behavior of an individual. it also controls others things like the ability to sweat. because of the publicity the family had, they began to get in contact with other families throughout the country who had children with the same condition. this has helped them cope with their situation and figure out ways to keep their children safe. scientists haven't found a way to change the mutation so that these individuals can live normal lives. some people might believe that not feeling pain is a good thing, but it's part of our human nature. without sensibility to pain, an individual is in danger every second of their lives. i never realized how important pain was until reading this.