Congenital Insensitivity to Pain with Anhidrosis

Biology 202, Spring 2005
First Web Papers
On Serendip

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.

References

1)American girl feels no pain and smiles to her own Blood

2)Congenital Insensitivity to Pain with Anhidrosis

3)Insensitivity to Pain, Congenital, with Anhidrosis; CIPA

4)Girl with rare disease doesn't know pain

 

 

Continuing conversation (to contribute your own observations/thoughts, post a comment below) 09/27/2005, from a Reader on the Web i too am fascinated with this disorder. i am non traditional student, just having returned to college after a long absense. my major is occupational therapy, and i am interested in how this disorder would benefit from OT. one other thing to consider is this. there are many "normal" people with high pain thresholds, and low pain thresholds. is there something in the brain that makes us more or less sensitized to pain?

 

 

I am a nursing student in Southern California. In researching diseases which effect the sense of touch I came across your site and others talking about CIPA. This is by far the most interesting disorder I have come across. I cannot even begin to imagine the strength of the parents and loved ones involved in caring for these children. These stories and testimonies of those involved truely help me to appreciate my own ability to precieve pain ... Samantha Celaya, 7 September 2006

 

 

I like this topic. It really intrested me once I saw the show "House" and the episode was similar to the story that you gave. At first, I thought that it'll be cool to have CIPA, but then when I realized what can happen to a person when they have that, then it scared me just a little bit. I would like to take upon this assignment to help those who have CIPA because they can't live like that, I mean, it's cool to not feel stuff happening to you, but when it all comes down, a person should still feel what normal people feel ... Tifany, 20 February 2007

 

 

I'm entirely engrossed with the matter of this disorder. Even though I am only 13. I love the television show, HOUSEmd, where it broadcasted a show about a young girl having CIPA. Please feel free to contact me with any information, as I dedicate 90minutes a day towards CIPA research ... Dylan Yamada, 1 March 2007

 

 

I am very intrigued by this disorder as well ever since i saw it on House about 4 weeks ago. I am now able to do a research project on it for my genetics class this semester. Thanks for your information and the links it really helped in this research, I find this very interesting and think its so weird ... Nicki, 14 March 2007