Case Studies
Unfortunately, case studies of people with insensitivity to pain are not very available to the general public. There are many reasons to account for the missing case studies: those born with insensitivity to pain have a rough start and can fatally injure themselves before being diagnosed, the extremely young death rate, and lack of diagnosis of those who don’t have excess to doctors or clinicians. While there are adults living with this condition they are much less known about. Because pain acts as a warning system telling us of abnormalities arising in or on the body, those without pain are not aware and therefore don’t get needed help to recover: this leads to a young death rate. Although there are more cases of insensitivity to pain we will cover three that have become publicly known. There are support groups available online for those whose lives are affected by these disorders who wish to remain more anonymous, we have included these websites at the end of our discussion. American Gabby, a young boy from China, and Ben from Britain will bring a face and a name to insensitivity to pain and help give a better understanding of their rare disorders.
http://www.oprah.com/tows/slide/200511/20051108/slide_20051108_284_208.jhtml
One of the most well know cases of congenital insensitivity to pain has to be of Gabby, a 5 year old girl that took her story to the internationally known American daytime talk show of Oprah Winfrey to share with the world her rare condition. In fact there are only 34 other Americans that live with her same condition. Her signals of pain never make it to her brain, which may sound like a good thing to a parent that their child won’t be exposed to the stress of pain, but sadly with a diagnosis of congenital analgia Gabby will never lead a normal life. When she was a baby Gabby started chewing her hand, bit through the skin, and would have continued to the bone if her mother hadn’t stopped her. “It looked mangled and nasty, like raw hamburger on her hand,” says her mother to Oprah. After that incident Gabby’s parents decided to pull all of her teeth to save her hands and tongue. Gabby’s self-destruction continued, after poking her own eyes out she now must wear protective eye goggles to try and spare her other eye. She also caused second-degree burns across her hand after grabbing a hot light bulb like a baseball; she wasn’t able to detect the extreme temperature of the light bulb. Gabby faces life long risks of fractured bones and joints and continually has to be monitored if fear of more self-destruction.
In October of 1999 First Affiliated of Santou University Medical College of China was brought a 12 year-old kid with symptoms they had not seen before. He was brought in because he was unable to stand, after x-rays were taken it was found that he had a dislocated right hip joint; again this was the just the beginning of his diagnosis. He had congenital insensitivity to pain with anhidrosis (the inability to sweat).
Congenital insensitivity to pain with anhidrosis is a very rare and severe hereditary sensory autonomic neuropathies (HSAN). It is characterized by mental retardation, congenital analgesia leading to self-mutilation, multiple scars and fractures, and anhidrosis with repeated episodes of fever, especially in hot weather. Death from hyperpyrexia occurs within the first 3 years of life in about 20% of patients.
In this case of the Chinese 12 year-old boy there was no family history of the disease. His hands and feet were normal during the first 2 years of life; yet when he was brought in there were no tips of fingers and toes to be seen and ulcers on the distal parts of his fingers and the palms of his hands. Until he was 6 months old his parents had no inclination of any disorder; however, when he was burnt by a cigarette butt at the age of 6 months old he showed no sign of distress and this was the first time his parents thought something was different about him. All through his life he bit his tongue and lips unconsciously which, left permanent damage to his face and several teeth missing. During medical tests he was very shy, uncooperative, and his language was very poor making it hard to understand; most notably he had a low IQ of 40.
http://www.cmj.org/Periodical/images/200612/2006122010225339.jpg
Fig. 1. The boy's first clinical examination: self-inflicted injuries to the lips (October 12th, 1999) (A).
The shortening of the nails and terminal phalanges of several fingers (October 12th, 1999) (B).
In January 2005 Britain was introduced to Ben, a 17 month-old boy immune to pain. His case is an amazing one in relation to others who are diagnosed with congenital insensitivity to pain, he has yet to cause serious damage to his oral cavity; possibly because in hopes of saving his tongue and cheeks his mother had all of his teeth removed as a baby. “At first we just thought he was an extra tough cookie, but gradually we begun to realize he was just too tough to be true,” says his mother before his diagnosis. The paradox of this disease is that because he doesn’t feel pain everyone surrounding him must be on their guard every minute of everyday in order to prevent any accidents. His doctors have told the parents that there is really little they can do to treat Ben. His family members are in search of other families with this condition in hopes of suggestions and help. “In the meantime we’ve just got to be extra vigilant and watch Ben every minute of everyday,” concludes his mother.