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
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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?
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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
The pain is awful in my life
Hello Sarah, I would love to talk to you some more about your condition, for you see, I have never heard of such a disorder until a couple of weeks ago when I came across a plead for help from a father for a 5 and 7 year old boy and girl.
Regards,
Kaleb Klein
i'm 4, what is this
i wish i couldn't feel, i cant feel emotion cause i has antisocial personality disorder, however not feeling pain would feel so much betters
varying degrees
is it possible to have varying degrees of this disease? i have found that the older i become, the more tolerance to pain i have. i have several body piercings and they just don't seem to hurt while others i know think they hurt alot.
cipa
I also came across a patient Aliza in pakistan at Indus Hospital Karachi whose foot had to be amputated due to infection,and gangrene. I also got to know that one of her cousins died at age 12 with the same disease. Dr.Faiza Herekar
More about CIPA
Hi,
I was wondering if you could share some more insight on this disease. I have a brother & sister who suffers from it. They are 17 & 18 yrs old respectively. I am the eldest.
I am desperate to know if this is hereditary & whether me too would have children akin to my bro & sis.
They exhibit all the symptoms of CIPA like no feeling of pain, variation in body temperature. Biting their fingers & digging their wounds. I know it's scary but have grown with them & am used to it & love them.
We take a lot of care to see that they do not hurt them selves.
CIPA
I nanny a boy who has CIPA. It is genetic. The doctors told them if they were to ever have another child it would be a 1:4 that it would have CIPA. Both parents have to carry the gene in order for it to mutate and that resulting in CIPA. I am glad to hear they are that old. Gives me hope that the little boy I tend will live longer. He is 8 now and has suffered everything possible. Broken every bone, infusions, infections, etc
CIPA
i have full CIPA and having dealing with it most of my life... things dont change all that much in my opinion I still think about the same things as every body else.... if I fall I mimic what i have seen everybody else do and it has been like that almost my whole life..... I have found that curiousity of people gets the best of them but I am a very old CIPA patient and have a great life.. I have a boyfriend and check my body many times a day just to make sure I didnt get hurt by accident as I am a clutse. LOL but I just think about the same things you do if i find a bruise i look it over and check it often to make sure nothing under it is broken but basically as long as you dont have 3 days worth of questions my yim is marianne_edmiston2000 and i dont mind sharing plus I love to talk to people and find out there opinions on my disease.. thank you for reading and letting me talk...
mari
How do you cope?
I'm doing a science project on genetic disorders and I choose CIPA. I would just like to know how do you cope with such a rare and dangerous disorder. I would really appreciate if you would write me back. Thanks
Research for a Novel
i'm writing a novel where one of the main characters has a more extreme form of CIPA, which will be fictional. This fictional disease is so far unnamed, but I'm basing it off of CIPA. You see, my character can't feel anything. Until I research CIPA more, I won't know the details of what she can and can't feel, such as pressure or pleasure. Because CIPA is the closest I can get to this new disease that I am fabricating, I'd like to talk to you about your reactions to things. It would be extremely helpful in my research and it would assist me in creating this fictional (and so far, unnamed) disease.
please feel free to email me at HG3012@k12.sd.us =)
CIPA
When you say that you mimic what other people do, do you act like it hurts so that others don't find out about it? Also, do you ever wish you knew what pain felt like? Thanks for reading. I'm very interested in your syndrome. :)
CIPA (HSNIV)
if anyone is having trouble finding information about the disorder, basic or that of detail, read the journals and studies done by Dr.Yasuhiro Indo, he is considered the highest expert of CIPA and related TRKA-NGF studies.
I am doing a project on this disorder
Hello
I too am doing a genetic disorder project and was wondering if i could use this web page as a source. Also I am very intrigued by this disorder and wish to learn a lot more on it.
Thanks,
Brett
CIPA
who is the doctor who discovered CIPA in 1959
who dicovered CIPA in 1959
I am writing a paper on CIPA and not finding basic information,who dicovered it,when and how they discovered it.
questons
how long do they usaly live??
Hello I also am doing a
Hello
I also am doing a project on CIPA and was wondering if you would mind me using your page as a source of information.
Thanks,
Meggan McGrew
MY DOUGHTER CAN'T FEEL THE PAIN BUT CAN SWEAT
I’m from Saudi Arabia my daughter have this syndrome. She is 1year and 6 month. We discovered her situation at age of 6 month when her teeth start to grow, in that month the front 4 teeth grow then we notice that she is pitting her fingers we get afraid so I start searching about what happen in the internet and when we meet the Doctor I gave her my input and told her what I have read bout this syndrome. She directed us to a nerve specialist and she told us that she had this syndrome. They make a chromosome test to find out whether or not it’s a sex-related and a result came that its not.
They said there is no medication for such case and you have to take care, watch, and examine hear always. Later I notice that my daughter can sweat I took her back to the doctor and she told us still she can’t feel the pain and she do not have a complete syndrome. From time to time she hurt herself last week she get a 3 degree inflammation.
I’m wondering if there is any way to help her to feel the pain. I’m planning to visit a specialist doctor in Bahrain who use burble medication for nerve problems.
Can I use you as my Human Contact?
I am doing a half a semester project on Congenital Insensitivity to with Anhidrosis in my Biology class, and I have all of the information that I need; except a Human Contact. I am working on my paper right now, and I cam upon your article and I would really like it if I could contact you, or vice versa, and interview you as my reference.
Thanks!
I have a few questions about
I have a few questions about CIPA. I am a student in Georgia doing a research project on this disorder. One of my most important questions is that, do they know the chromosome that is responsibly for this disorder? My other question is, is it possible to know that your child may have this disorder through gene theropy, is it tracable, and is the disorder reccesive or sex-linked, if it is inherited?
About CIPA
Your article is really good. I´m from Argentina and I´m a psicologyst and my speciality are anxiety disorders. I feel curiosity about the role of the amigdala in people with CIPA, as they don´t feel pain, then they maybe don´t feel danger, so how does the amigdala behave in these case o disease? Thanks a lot.
this website helped me lots!
this website helped me lots! im dong a project on genetic disorders, and my topic is CIPA
this is such a fasinating subject!
This article is very
This article is very interesting. For my biochem class i chose to research CIPA and we were assigned to make a webpage on it on scionline.org and its under the chemistry section. If anyone would like to go on it and adjust what i have found that would be great!
Congenital insensitivity
Having this genetic defect myself has caused problems thoughout my life. Second degree burns. Fractured or even broken bones etc. I would be interested in hearing from others or contacting a research facility in Ontario, Canada could anyone assist me.
Karen
i have a similar condition
i have a similar condition which as of yet has not been completely diagnosed.
as i went thru puberty i gradually became indifferent to pain completely (i can feelit,but it does not cause pain)
i do not know about ontario,but dr. james brower at mcgill in quebec was very helpful for me in setting up appointments at the university.
to those who watched house, i have not heard before that that cipa was more common among ashkenazik jews (its more known among swedesh really)
however, i am an ashkenazik jew
I hope not to offend you or
I hope not to offend you or make you uncomfortable by asking, because I know you've heard and answered millions of questions, but I am a high school student and I chose this disease to do research on. I have so many questions for my own curiosity, but a general question would be: On a day to day basis, in the beginning, did you ever forget you had the disease? Have you ever thought, "Oh crap, that could hurt me if I could feel it."? Or on the contrary, is the disease on your mind every second?
I can assume you are not happy about having this disease, not even including that it is said before that no one with this can live to be older than the age of 25, but have you ever in your own thoughts proclaimed that you were happy to not be able to feel pain in some circumstances? Going to the doctor and getting shots, have you ever felt relieved that you couldn't feel the prick? Of your friends and family, have they often described to you what some feelings are?
I am doublethinking of whether or not you have feeling at all. I want to assure myself that you can feel if someone touches you or pats you on the back, but is it just to an extent of force can you not feel someone's touch? Can someone gradually pinch you until they feel it would be painful, or do you not even feel the first stage of the pinch because not everyone has the same level of hurt with the same level of intensity of pain? What might hurt you might not hurt a college football player or something. That question is just asking if you are extremely sensative or can you withold someone touching you at any rate? *Or is it that you can feel everything, but nothing ever hurts?
[I'm having difficulty phrasing that question correctly. :)] Ok. Do you think your brain knows when to stop letting you feel something or does your brain simply let you feel nothing at all, because it doesn't know how much pain you can sustain?
CIP
I was diagnosed with this disorder in 1959. I was one when it was discovered. I too have had the broken bones, burns and various other problems that come with this disorder. I have always been curious if anyone knows the longest someone with this disorder has lived. The most serious problem I had was a benign ovarian cyst that was the size of a vollyball before it was discovered. I would enjoy hearing from you.
CIPA
If you wouldnt mind answering these ?s i need some info about the disese you have for my biology report. I watched the episode of House that had this disease on it and i wanted to know everything you can tell me about CIPA if you wouldnt mind.
Hello Ms Brenda, I would
Hello Ms Brenda, I would love to talk to you some more about your condition, for you see, I have never heard of such a disorder until a coulpe of weeks ago when I came across a plead for help from a father for a 5 and 7 year old boy and girl.
Regards,
Iza
Two little poor kids with CIPA desease in Morocco
Hello,
I am writting to you on behalf of parents of two little kids with CIPA desease. These kids are very poor. They lost their toes and little fingures. Please let me know if you can help these little two kids. Pictures are available upon request.
Thank you
just wanted to ask a few question.
I don't have the answer to your question. But I would like to know more about your disorder, no offense. Is it where you feel no pain at all? (You said CIP) or is it something a little different. If you have the time to reply back, that would be great. I have been wanting to meet someone that cant feel pain, I have some question about it. Well thanks,
Hope to here from you.
>Justin
This is a great article. I
This is a great article. I had heard about this much before Grey's Anatomy and House used it as a storyline to tv. It's incredibly difficult to perceive and I look for more and more on this condition.
the reason why i discovered
the reason why i discovered of such disease was because of the medical drama dr. house.. its so interesting yet dangerous for people with such rare condition.
I really like your article.
I really like your article. I am currently a biology student and I am looking for research on CIPA and your article helped me out greatly. Thanks for all the wonderful information. You did a great job!
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