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Re: Re: A Life Without Pain
| quote: | Originally posted by Jem_hadar
Relates stories about the above, to give you all an idea. |
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American girl feels no pain and smiles to her own blood
12/15/2004 16:46
Those people, who do not feel any pain at all, usually die before they turn 25
When the girl was 12 months, she could easily bite her own finger off and feel no pain at all. When she was three years old, she put her hand on a red-hot oven, and burnt her skin. Parents were shocked, when they saw blood all over the kitchen, while their daughter was sitting there smiling. The girl can also bite her tongue through when she eats. "This is not a gift from heaven, this is a curse!" the girl's mother exclaims.
Five-year-old Ashlyn Blocker from the town of Patterson, Georgia, is sitting on the ground playing with her doll, while two cameras are filming her. Ashlyn suffers from one of the rarest diseases in the world. Adolf Hitler was highly interested in the phenomenon: he ordered to explore it in 1944 to create an army of fearless supersoldiers. When little Ashlyn falls down and scratches her keens, she does not cry or scream with pain. A child, who never cries, may seem to be a dream for every parent. Ashlyn's parents, however, are not happy at all.
Thirty-five US citizens suffer from CIPA - an ultra rare disease, which deprives an individual of such an important natural protection as pain. There are a hundred people like that living on the whole planet. CIPA is a highly extraordinary genetic disorder. Scientists believe that the disorder may occur when parents have different blood groups. It may occur, although it does not happen with the majority of people.
A lot of parents would be happy to have a baby, who does not wake them up at night. Ashlyn's mother was also happy to realize that her daughter was such a quiet little baby. However, the girl's peaceful behavior raised suspicion with the woman and she decided to take her baby to the hospital. A research did not reveal anything strange, although doctors did not take a blood sample for the genetic analysis. When Ashlyn's teeth started growing at the age of six months, the girl shredded her own lips with them. Doctors examined the girl in a special clinic and found out the reason of her unusual behavior. It turned out that Ashlyn's genes, which were responsible for pain impulses, were damaged.
The little girl's senses are fine, although she does not show any sensitivity to any kind of pain. In addition, the girl's body does not produce sweat, which is very dangerous too - the child can die in very hot weather. Modern science does not have a remedy to cure the disease - that is why Ashlyn's parents and relatives constantly fear for the baby's life.
The fear of the girl's parents is easy to understand: those, who do not feel any pain at all, usually die before they turn 25 years old. As a rule, painless individuals die of appendicitis: they do not feel pain in the right side, and notice the problem too late, when the deadly inflammation starts. Such people die of frostbites, heat strokes, blood poisoning, which can be caused with a slight wound; they do not feel any pain even when they have a heart attack.
Ashlyn's parents say that they are trying to make her think that blood is bad, that she needs to ask for help every time, when she sees her own blood. Doctors do not know, what will happen to the girl when she grows and gives birth to her own child, because she will not be able to feel contractions. The parents have to be highly careful even when they feed Ashlyn: "We can't leave her alone when she eats. We can't give her hot meals - she can burn her mouth with them. She can also bite her tongue through," they say.
Ashlyn Blocker will have to live a very difficult and hazardous life. It may sound like a paradox, but the feeling of pain has become an unfeasible dream for the girl and her parents.
It is worth mentioning that unique, inexplicable phenomena are more common with children rather than adults. There is a ten-year-old boy in China, whose bodily temperature is 43 degrees. The boy is quite healthy; he has never had flu, although any other normal person would die in his place. Another superchild was born in the former Soviet republic of Georgia. The boy is only 15 months old, but he has already made a Guinness Book record with his weight of 26 kilograms. A five-year-old Hamburg resident is as strong as a 15-year-old kid. Another child prodigy lives in Iraq - the boy has not been able to sleep for more than two years. Scientists have never been able to find any explanation to such mysterious phenomena.
http://www.unexplainable.net/artman...icle_1274.shtml
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The one-in-a-billion boy who feels no pain
Last updated at 10:00am on 21st January 2005
Ben Whittaker: The toddler pulled out one of his teeth without even blinking
When Ben Whittaker picked up a piping hot chip from his father's plate one day, he blistered three of his fingers - but showed no sign of distress.
The baby's parents were amazed. And they were astounded when he pulled out one of his teeth without even blinking. Joanne and Wayne Whittaker sensed that their son was no ordinary boy. Indeed, they soon learned that he is one in a billion. As a result of a rare genetic disorder, Ben is totally immune to pain.
Only the 33rd person to ever be diagnosed with the condition, the boisterous 17-month-old never sheds a tear however badly he hurts himself.
When he fractured his heel while playing at home he didn't cry at all. His parents took him to hospital, but Ben simply ran off without a care in the world once the doctors put his ankle in plaster.
Danger
Although Ben feels no pain, his condition does pose some serious dangers. Specialists at Sheffield Children's Hospital are worried that he could bite off the end of his tongue without knowing it and have suggested removing all his baby teeth to save him from hurting himself.
His mother, 33, says she dare not let Ben out of her sight for a moment. Speaking at the family home in Royston, South Yorkshire, she said: "At first we just thought he was an extra tough little cookie, but gradually we began to realise he was just too tough to be true.
"It might sound appealing having no sense of pain, but the condition means we have to be on our guard every minute of every day. I'm always terrified he's going to put his hand in the fire or burn himself on a radiator.
"If he falls or bangs his head he never makes a peep. Nothing seems to hurt him. Ben's so immune that he bit right through his tongue and didn't feel a thing. He was nine months old when he blistered his fingers with the chip. It was a nasty burn, but he didn't react at all.
"His fractured heel made no impression on him. Once they put the plaster on his ankle he was running round the accident and emergency department as though nothing had happened at all."
Little doctors can do
His father, who works as a joiner, says there is little that doctors can do to treat the little-known condition.
"The health visitor was the first person to realise something was wrong," he said. "Ben underwent a lot of tests at the children's hospital, and when they sent tiny electrical impulses through his nervous system they found his brain wasn't interpreting the pain signals properly."
The disorder, known as congenital indifference to pain, was first diagnosed in the 1930s. Only 32 other cases have been identified before. Experts believe the condition is caused by the failure of a substance called betaendorphin that occurs naturally in the body and modulates pain sensations.
The Whittakers are hoping to contact families of other victims to get more advice on the condition. "In the meantime we've just got to be extra vigilant and watch Ben every minute of every day," said Mrs Whittaker.
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CONGENITAL INSENSITIVITY TO PAIN
WITH ANHIDROSIS
Congenital Insensitivity to Pain with Anhidrosis (lack of sweating) is a rare autosomal-recessive disorder usually manifested in childhood by a history of unrecognized trauma, indifference to pain stimuli or self-mutilation. This disorder is a rare sensory and autonomic neuropathy which is defined as the absence of normal subjective and objective responses to noxious stimuli in patients shown to have normal central and peripheral nervous systems.
Clinical appearance of patients with congenital insensitivity to pain.
INTRODUCTION
HOW IS THE BRAIN INVOLVED?
NOCICEPTION PATHWAY
MAIN FEATURES OF DISORDER
CASE STUDIES
REFERENCES
INTRODUCTION
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Patients diagnosed with congenital insensitivity to pain with anhidrosis (CIPA) suffer from abnormal pain and temperature perception, absence of sweating (anhidrosis), mental retardation, fever during hot weather and loss of unmyelinated fibers with a decrease in size of small myelinated fibers. Body temperature is disturbed as a result of the inability to sweat and insensitivity to pain may lead to bone fracture, multiple scars, osteomyelitis, and joint deformities, which may lead to limb amputation, painless injuries of arms, legs and oral structures.
This disorder results from a defect in neural crest differentiation and the system responsible for pain and temperature sensation, the first-order afferent system, is lost. Nociceptive neurons in the dorsal root ganglia derive from the neural crest and they can only survive if they are stimulated by the nerve growth factor (NGF) through the TrkA receptor. Mutations in the TrkA gene have shown a correlation with the defective development of the nociceptive neurons.
HOW IS THE BRAIN INVOLVED?
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NGF AND TrkA GENE
The survival of neurons during development is largely dependent on neurotrophic factors, the most important being the NGF family. These neurotrophins recognize two different classes of receptors, the TrK family of tyrosine-protein kinases and the low-affinity receptor, p75. Three types of TrK receptors,such as TrkA, TrkB, and TrkC have been found. TrkA is the receptor that signals NGF, TrkB signals brain-derived neurotrophic factors and neurotrophin-4, and TrkC is the primary receptor for neurotrophin-3. The P75 receptor facilitates the interaction between the signaling receptor TrkA and NGF by increasing the concentration of NGF in the general area of the TrkA receptors.
NGF is produced by target cells consisting of gland, muscle or skin cells. NGF stimulates the survival of cells, derived from the neural crest. These cells include nociceptive neurons and cells
p75 receptor
of the sypmathetic ganglia. The receptors, TrkA, mediate the effects of NGF and are mainly found on cells derived by the neural crest in the nervous system. Abnormalities found in patients that carry a disruption in NGF, p75, or TrkA genes are similar to the pathological finding in CIPA.
NOCICEPTION PATHWAY
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This the pathway that pain takes through the brain: lumbar spinal cord, cervical spinal cord, lower medulla, mid-medulla, mid pons, midbrain, ventral posterior lateral nucleus thalamus, primary somatosensory cortex and cerebrum.
MAIN FEATURES OF THE DISORDER
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The main features of the disorder are: lack of pain sensation, painless injuries of the arms, legs and oral structures, fever during hot weather because of inablilty to sweat (anhidrosis), mental retardation, infection and scaring of the tongue, lips and gums, chronic infections of bones and joints, bone fractures, multiple scars, osteomyelitis and joint deformities, which may lead to amputation.
CASE STUDIES
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People with congenital insensitivity to pain go through life in danger of destroying their bodies because they do not realize the harm they are doing. Many die young and for those who don't they go through life experiencing a different sort of pain.
Take into consideration a 13-month-old Pakistani boy who was referred to an orthodontist by his physician after experiencing repeated tongue bitting resulting in ulceration and loss of the tip of his tongue. He had recently been diagnosed as having CIPA which means that he could feel pressure and touch but didn't react to noxious stimuli. He showed little or no response to circumcision performed without anesthesia. At six months he developed osteomyelitis and soon after, severly burnt his finger tips by holding a radiator. At this same time he began to bite his tongue.
Severe burns on finger tips from holding a radiator and extensive lacerations of tongue with loss of the tip.
The orthodontist suggested that they try to maintain the teeth to protect the tissues from futher damage. A mouthguard was constructed and fitted to protect the tongue. However, it was noted that the patient began experiencing sores in his mouth from the mouthguard. Three more mouthguard were introduced to minimize trauma by rotating the guards. This treatment resulted in much resolution of the ulcerations and helped reduce the chewing.
The most well documented case of CIPA was Ms. C. She was a young Canadian student who attended school at McGill University in Montreal. Her father was a physician and was aware of her condition. He asked his colleagues in Montreal to examine his daughter. They concluded that Ms. C was normal in every way except that she felt no pain. She had bitten off the tip of her tongue as a child while chewing food and had suffered third-degree burns after keneeling on a hot radiator. When examined by the psychologist, Ms.C reported that she felt no pain when noxious stimuli were presented. Even when parts of her body were subjected to electirc shock, hot water at burning temperatures or a long ice bath she reportedly felt no pain. It was noted that she showed no changes in blood pressure, heart rate, or respiration when exposed to these conditions.
Ms. C claimed that she could not remember sneezing or coughing and could only stimulate her gag reflex with much difficulty. The doctors at Montreal put Ms.C through a series of tests such as: inserting a stick up through the nostrils, pinching tendons, or injecting histamines under the skin. All of these tests failed to produce pain.
Ms. C had severe medical problems. She exhibited pathological changes in her knees, hips and spine and underwent several operations to fix these problems. Her doctors explained these changes as a lack of protection to her joints usually given by the sensation of pain. She could not shift her weight when standing, turn over in her sleep, or avoid certain postures. In an individual without CIPA, these things prevent inflammation of the joints.
Ms. C died at the age of 29 of massive infections that could not be brought under control. During her last month she reportedly complained of discomfort, tenderness and pain. This was unexplained by her physicians.
REFERENCES
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Okuda, K., Toshimi, A., Miwa, T., & Hiroki, K., (2000). Anaesthetic management of children
with congenital insensitivity to pain with anhidrosis. Pediatric Anaesthesia, 10, 545-548.
Indo, Y., & Hayashida, Y., (1996). Mutations in the TrkA/NGF receptor gene in patients with
congenital insensitivity to pain with anhidrosis. Nature Genet, 13, 485-488.
Littlewood, S. J., & Mitchell, L., (1998). The dental problems and management of a patient suffering
from congenital insensitivity to pain. International Journal of Pediatric Dentistry, 8, 47-50.
Yotsumoto, S., Setoyama, M., Hozumi, H., Mozoguchi, S., Fukumaru, S., Kobayashi, K., Saheki,
T., & Kanzaki, T., (1999). A novel point mutation affecting the tyrosine kinase domain of the
TrkA gene. The Society for Investigative Dermatology, 112, 810-814.
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So amazing, yet so sad and unfortunate. 
one more, bc i cant stop
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Congenital Insensitivity to Pain with Anhidrosis
Sarah Sniezek
Congenital Insensitivity to Pain with Anhidrosis (CIPA) is a rare disease which causes one to lose their feeling of pain. I read this article a couple of weeks ago about a girl who has this rare disease and is incapable of feeling pain and will never know what pain is. It intrigued me and sparked my web paper topic. I wanted to know everything there is to know about this disease and my research to give me answers, but, of course, this was not the case. The more and more I researched I began to wonder if this supports our notion of the "Brain =Behavior". There is so much more to learn about this fairly young disease and with that please take into account that these are sources off the internet and one could not know if they are fully accurate or not. As for the deep detail of the topic, such as names of different genes and etc, I do not fully understand their full meaning so I will write about what I took from all the different information about CIPA.
CIPA is a disease that is very new and that very few people have. There are only thirty-five US Citizens that have CIPA, and most people with this disease usually do not live past 25, which makes it very difficult to study and to come closer to "getting it less wrong". ((1)) This one particular girl, Ashlyn Blocker, has CIPA which causes her life to be very difficult. Since the young girl was born with CPI, she would have no idea what pain feels like and cannot relate to most people. Most of us, from the day we are born, have this intuitive notion about pain. We feel it and know to be aware of it from learning from our experiences. Imagine being unable to learn what pain is because you are unable to have similar experiences. Well, that is how this young girl was born.
Most people would think it would be great to live without pain, but pain is an indication to our brain that our body needs something. Ashlyn is incapable of living a normal life and has to be examined regularly because there is no way to know if she is endanger of killing herself through high fevers because of the inability to sweat, unknown injuries, and etc. ((4))
Ashlyn's case is rare within the world, but there are other studies of people from different ethnic background which also get CIPA. Through these few studies there has been extensive research done and there are many correlations found. So far, CIPA is defined as an autosomal-recessive disorder ((2)) which is a developmental defect (not necessarily hereditary) ((3)) that usually is caused by a history of some kind of trauma. The person affected by this is unable to feel pain, even though they seem to show a normal central and peripheral nervous system. ((3))
With is young disease there are many questions and hypotheses brought up. There are many correlations and observations. On one study of CIPA, many different people having CIPA were observed and Clinical features, Pathological findings, and Molecular Genetics were all taken into account. Under the Clinical features one finding showed that in CIPA patients there is an overproduction of brain endorphins which could be some how interrelated to this disorder. ((3))
Another study was done by taking a biopsy of the cutaneous branch of the radial nerve of two patients with CIPA, differing in gender and age. Within the older of the two patient's biopsy of the radial nerve, there showed to be no small myelinated and unmyelinated fibers but within the younger of the patient the biopsy showed that they were lacking unmyelinated fibers and that the amount of small myelinated fibers was decreased. This suggests "that the disorder was not a hereditary sensory neuropathy, but rather a developmental defect" ((3)). Another pathological finding was that patients with a very small amount of nerve fibers were more likely to have rare nerve fibers in the dermis and no nerve branches or endings on the epidermis. These patients are classified as HSAN4 patients. The studied concluded that these patients "have a hereditary developmental defect of nerve outgrowth"((3)).
Lastly, the study of Molecular Genetics within CIPA patients gives the most substantial information. The study of a gene tyrosine kinase (NTRK1) which is related to the nerve growth factor (NGF) within the patients having CIPA seemed to be the mutation causing CIPA. This study also suggests that there are other TRK and neurotrophin genes might be the cause of developmental defects of the nervous system. ((3))
As for these studies, they just bring me closer to understanding what I want to understand between the brain and its behaviors. So far within this semester I have been trying to find something to show me that the brain and behavior are not equal, but I still cannot find anything. This rare disease, CIPA, shows that the brain and behavior are equal. People affected by this disease feel no pain and will never understand what pain is. Their behavior is equivalent with their brain state.
I find it interesting though that these people affected by CIPA act the function normally other than them not being able to feel pain and sweat. I wonder is there also something different within their brain. One study did show that there was an increase of endorphins within patients' brains that have CIPA, what does that show? Does it change anything? Why is their behavior still the same as most people other than the feeling of no pain? Is the only difference within their brain their insensitivity to pain?
I went into this research wondering about this disease and if it actually went against "brain=behavior" and it has not so far. It only makes the argument less wrong. This disease affects ones nerves because of a mutation of some sort, most likely a gene mutation within the NTRK1. The behavior still reflects ones brain state.
http://serendip.brynmawr.edu/bb/neuro/neuro05/web1/ssniezek.html
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Last edited by Jem_hadar on Feb-17-2007 at 22:01
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