Photos from our Event

Throwback to our presentation day: 30 September 2016

Our handmade poster!

Our group photo!

Four People - One Disease, Three Different Accounts

  

            According to an article entitled, “The Hazards of Growing up Painlessly” by Justin Heckertnov which appeared in the New York Times, he described three main cases of people around the world living with Congenital Insensitivity to Pain with Anhidrosis or otherwise named Hereditary Sensory Autonomic Neuropathy. These three cases, each with very unique personalities and characteristics, will be further elaborated below for your perusal.

            Ashlyn Blocker, was at the time of the writing of the magazine article twelve-years old, now sixteen has become somewhat of a curious spectacle and a celebrity in her hometown at Patterson, Georgia in the United States of America (Heckert, 2016). Some instances of her childhood were recounted in the article. Indeed, raising a child who cannot feel pain nor sweat proved to be challenging for her own parents. The instances discussed will show you how. Once, she was stirring ramen noodles in the family home’s kitchen when suddenly the spoon slipped from her grasp and fell into the boiling water. To the horror of her mother, Ashlyn retrieved the spoon from the boiling water using her hand. She ran cold water over her scarred hand and then summoned her mother, Tara, who rushed to apply pressure with ice against her daughter’s hand. Her mother had to show her how to retrieve the spoon next time by using another kitchen utensil instead of her own bare hands (Heckert, 2016). Such is a challenge that for Tara Blocker, raising a child who has no means of pain sensations to warn her of an imminent danger proved to be hazardous.

           In another instance, the family gathered around for a casual fun of activities such as drawing on napkins, playing checkers, and singing when Tara noticed Ashlyn playing with her headband. Tara went to her daughter to remove Ashlyn’s hair away from her ears as her skin was bleeding underneath her hair. The headband was slicing into her skin all this while and Ashlyn did not feel the pain (Heckert, 2016). Such an unfortunate incident requires parents to constantly supervise their child.

            As Ashlyn got older, her dad recounted an amusing story from a man whom her father met while working. The man asked her father what would happen if Ashlyn got her hand amputated. Would she not feel any pain? Her father replied that Ashlyn will certainly feel no pain. The man looked stunned and wondered how such a thing could be real! Ashlyn laughed when her father recounted the story as she found it amusing that someone would ask her to amputate her hand (Heckert, 2016). People around her are often curious about her condition. Yet, her condition does not deter her from making friends with her peers in high school.

            The second person featured in the article is an unnamed boy. His case is a sad one. Dr. Geoffrey Woods, a researcher who conducts research to find out more about this rare disease, was asked to see a boy who lived in Lahore, Pakistan (Heckert, 2016). The boy was said to not be able to feel any pain, hence, also suffering from the same disease as Ashlyn Blocker. Dr. Woods agreed to see the boy. When he arrived in Lahore, however, his parents recounted to him that the boy was no longer alive. Dr. Woods gave the account that on the boy had wanted to impress his friends on his eleventh birthday. The boy decided that he would leap off the one-story roof of his house. He was able to get up and brush the dust off his clothes, saying that he was well. However, unfortunately he passed away the next day due to internal bleeding. He did not feel any pain after leaping from the roof of his house. Pain which served to warn us, did not warn the boy. Pain was supposed to have held him back from doing such risky activities, but he did not feel pain. Parents could also be accused of harming their kids when kids suffer self-induced injuries. Hence, it is never easy to raise such a special child with a special disease (Heckert, 2016).

            The final case in this account involved two sisters: Karen and Ruth Cann. They knew they had this disorder as they developed from childhood to adulthood, but they weren’t sure if their smelling senses were functioning normally or were absent. Hence, when they saw Dr. Woods for consultation, he tested them. Dr. Woods placed items that have strong smells such as coffee and oranges, but they could not smell the aromas (Heckert, 2016). However, they told him that they were able to taste. Such a paradox involving the separation of smell and taste sensations is unfathomable to the rest of us who studied that both smell and taste sensations often relate to each other. Yet, some people with this disorder could only taste and could not smell. Similarly, when pregnant women with this disorder are about to deliver their babies, they could feel the pressure or contractions, but they could not feel the pain resulting from childbirth.

            This post aims to highlight the cases of people with such a rare disease and provide an clear window which we can peek into the lives of people living with a rare disease. Precautions and measures should be taken to ensure that they are able to care for themselves. Yet, they can still live their lives well, albeit differently. But, aren’t we all different from one another? So are they. 

Reference:

Heckert, J. (2016). Ashlyn Blocker, the Girl Who Feels No Pain. Nytimes.com. Retrieved 13 October 2016, from http://www.nytimes.com/2012/11/18/magazine/ashlyn-blocker-feels-no-pain.html

Know your Symptoms!

If you have been following our thread you should now know that CIPA (Congenital Insensitivity to Pain with Anhidrosis) otherwise known as HSAN IV (Hereditary Sensory and Autonomic Neuropathy Type-4) is a condition that is present from birth which inhibits the ability to perceive physical pain.

Since we have already covered the basic definitions and probable causes, let us move on to a more practical part of HSAN-4: Signs and symptoms of a person with CIPA! 

Generally, signs and symptoms are mostly shared by both children and adults. However certain symptoms are more prevalent to a certain age due to their maturity and characteristics. Children for instance, are most likely to meet with minor accidents because they are at the age of exploring and moving about. Children with CIPA are met with a higher risk of injuring themselves while they play as they tend to be much more careless compared to adults. Below are the list of symptoms categorized according to age:

INFANTS / CHILDREN

Symptom no. 1: Anhidrosis

Anhidrosis is the inability to sweat, causing heat to quickly build up within the body. This particular symptom triggers the development of fever, which brings us to our second common symptom...

Symptom no.2: Hyperprexia

Hyperprexia is the aftermath of Anhidrosis, in which the heat trapped within the body causes the child to develop an extremely high fever. This is pretty common among children with CIPA, and parents are to be made aware of their children's body temperature regulation as high fevers are known to cause brain damage if they are not taken care of.

Symptom no.3: Lichenification

Lichenification is associated with the first two symptoms as the skin thickens as a result of dead cells built-up. The inability to sweat and release bodily toxin also contribute to skin thickening and the formation of hard calluses around the body.

Symptom no. 4: Hypotrichosis

Often associated with Anhidrosis, Hypotrichosis occurs when the body's skin cells are affected so bad that they no longer promote hair growth around the area of congested pores, causing the person to lose hair.

Symptom no.5: Seizures

Seizures are not uncommon among kids with CIPA. In fact, most of them develop seizures whenever they experience Hyperprexias.

Symptom no.6: Hypotonia

Hypotonia or commonly known as 'floppy baby syndrome', is a state of low muscle tone often involving reduced muscle strength, hence portraying the infant to look droopy with diminished muscles.

Symptom no.6: Recurring ulcers

Infants and children are prone to develop ulcers especially during the teething period. Children with CIPA usually have recurring ulcers due to the inability to feel pain, and because they play and fall down a lot (possibly hurting their mouth or accidentally biting their tongue) ulcers will develop around the insides of their mouth without them noticing.

ADULTS

Symptom no.1: Osteomyolitis

Osteomyolitis is a condition where the bone suffers from great inflammation due to infection around the affected area. Sometimes adults tend to graze their knees or elbows when they are moving about and adults with CIPA tend to graze and cut themselves without their own realization. These recurring cuts or bruises will then escalate to a bigger wound from thelack of medical attention, which will then affect the surrounding bones (joints).

Symptom no.2: Acroosteolysis

Acroosteolysis is a condition where an adult with CIPA loses bone tissues that surrounds his or her fingers and toes. This happen due to recurring injuries around the hands and toes and the added pressure of bending and bruising them. As a result, their fingers and toes appear to be slightly more pointed compared to regular people. 

Symptom no.3: Charcot Joint

Charcot joint is a progressive inflammation and deformity of bodily weight-bearing joints as a result of increased blood flow to the limb, contributing to swelling and osteoporosis of the bones as the Charcot process occurs.

Symptom no.4: Postural Hypertension

Adults with CIPA tend to suffer from postural hypertension. According to the image, the person's blood pressure drops whenever the person stood up from sitting or laying down for an elaborated amount of time, triggering instant dizzy spells and body imbalance.

Symptom no.5: Neurotrophic Keratitis

Neurotrophic keratitis is a degenerative disease characterized by decreased corneal sensitivity and poor corneal healing. Adults with CIPA might sometimes damage their eyes from accidental actions; such as soaping during bathing or poking their eyes. Since they are unable to feel pain, less attention is given, causing the eye to heal slower than usual. Repetition of this causes decreased sensitivity, and for some cases individuals may have poor eyesight and may even go blind.

These symptoms - as mentioned, progresses differently for both children and adults but the link and connection as to how they develop can be observed from the symptoms suffered as a child. Of course, an overlap for both age class would be the obvious inability to feel pain, temperature change and also the inability to feel pressure. However, physical symptoms are often observable, and it is pretty easy to distinguish individuals who suffers from CIPA.

As we reach the towards the end of our discussion today, we immensely hope that you have learned something, and do check our blog page for more updates in the future! Have a pleasant day, and take care!

References:

Axelrod, F. B., & Simson, G. G. (2007, October 3). Hereditary sensory and autonomic neuropathies: types II, III, and
IV.Orphanet Journal of Rare Diseases, 2(39). Retrieved September 21, 2016, from
http://ojrd.biomedcentral.com/articles/10.1186/1750-1172-2-39

Congenital insensitivity to pain with anhidrosis (n.d.). In National Center for Advancing Translational Sciences. Retrieved
September 21, 2016, from https://rarediseases.info.nih.gov/diseases/3006/congenital-insensitivity-to-pain-
with-anhidrosis

The Biopsychosocial Model!

The biopsychosocial model provides a more thorough and comprehensive overview of CIPA or HSAN IV. First of all, from the biological aspect, as mentioned in the earlier post on the cause of this disease, it is caused by mutation in gene NTKR1. This gene mutation leads to dysfunction in nerve cells receptors which affects sensation beyond temperature and pain. The main and only root to this disease is biological as it is related to gene mutation. Besides the root to this disease, another aspect from the biological factor is genetic testing. It is advisable for parents to undergo genetic testing as a precaution to rule out any possibility of inheriting the disease and passing it down to their offspring. This can be done before and after marriage, and also before conceiving a baby.

            

Moving on to the psychological factor, people with CIPA need psycho-social support from people around them, for instance family and friends, and also from the neighborhood. Other than that, as they get older, they may need to seek for counseling to understand better and accept their condition. Psychological aspect is not only limited to CIPA patients, their parents will also require emotional support from others, especially when they find out that their child has the disease. This is because it can be very difficult to take care of a child with CIPA as many complications may occur along the way.

         

Lastly, from the social aspect of biopsychosocial model, it is likely that people with CIPA may face discrimination because they are different from others and people might not understand them. Other people might not be aware of this disease as CIPA is a rare disease which has a very low occurrence. Furthermore, people with CIPA may also distant themselves from social situations due to the fear of unintentionally harming themselves with possible injury. This can be very dangerous and even fatal as they are not alert of physical pain.

           

By looking through CIPA from the biopsychosocial model, we can clearly visualize this disease at different perspectives and how a CIPA patient is affected in different ways. 


Reference: 
Natural Organization for Rare Disorders. (2014). Hereditary sensory and autonomic neuropathy type iv. National Organization for Rare Disorders. Retrieved 13 October, 2013 from https://rarediseases.org/rare-diseases/hereditary-sensory-and-autonomic-neuropathy-type-iv/

How to Manage HSAN-IV?

Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV) is a rare disease that is without cure and therefore the only measure we can take is to prevent and handle before and after the disease. There are several management methods that are tailored for the symptoms shown by the child or individual with HSAN IV.

First of all, individuals with HSAN IV have to be constantly under the inspection of a team of medical specialist of different fields. This team of specialists has to join effort to work out a comprehensive and systematic plan to help treat or manage the affected child. Plus, dermatologists, dentists, neurologists and orthopedists could be an example of personnel in the specialist team (National Organization for Rare Disorders, 2014). This method is to promote the awareness of symptoms of the disease to their family members as well as to guide them on the ways to handle such child at home or at public area.

Secondly, to prevent consequences due to the inability to feel hot or cold stimuli, parents or guardians should be alert always on the affected child’s body temperature and body condition. Whenever fever exists, parents or guardians could provide medication such as ibuprofen and acetaminophen to help subside the fever within their bodies. Not only that, parents could also bring their affected child to have a cold bath or cover them with a cooling blanket to lower their body temperature (National Organization for Rare Disorders, 2014).

Third, various orthopedic and dental measures need to be taken to help them recover from severe unknown injuries and to avoid self-mutilation. Orthopedic measures are usually to treat abnormalities affecting one’s bones and joints, procedures such as braces or orthopedic devices. In addition, they should also use dental procedures to protect the child from self-harming. For instances, prevent any mouth injuries by smoothing or grinding down the sharp edges of the child’s tooth, using a night guard or extracting a tooth (National Organization for Rare Disorders, 2014).

Next, affected child or individual needs behavior conditioning as well as the other variety supports they can obtain. The behaviors of the affected individuals need to be conditioned so that they would not harm themselves unknowingly especially when their parents or guardians are not beside them (National Organization for Rare Disorders, 2014). Behavior modification techniques such as operant conditioning concept should be introduced to the parents and encouraging the child to recognize dangerous objects through cues beyond than senses stimulation. Operant conditioning is a concept that connects certain responses or actions by using a certain stimuli to trigger the intention of behaving the desired behavior or to eliminate unfavorable behavior (Huitt & Hummel, 1997). A child could learn whether a behavior is desired or expected from the reinforcement and punishment system implemented by their parents or guardians. To reinforce a behavior would increase the frequency of that action. On the other hand, to punish a child due to his or her behavior would reduce the occurrence of that undesirable behavior (Huitt & Hummel, 1997).

Besides learning and conditioning favorable behaviors, psychosocial support plays a great yet crucial role for the affected children and individuals (National Organization for Rare Disorders, 2014). Children are a growing social being. In order to be able to fit into the society, they need to step out from their home and start being independent. However, independency is a task with high difficulty level for them as they could not sense danger, especially to extreme temperature and pain. Thus, a supportive and cooperative social networking is definitely required by the affected group. The society should increase their understanding towards this disease through research or acquiring information from professionals. A helpful psychosocial support could help sustain the life quality of the affected group. It would be better if the affected ones are able to find a trustworthy friend or partner to assist them.

Most importantly, this group of people needs regular and daily monitoring or inspection the most. This is an important measure to prevent any unwanted accidents from happening at home or outside before they could achieve independency fully. With regular monitoring, any unrealized and unknown injuries could be found out as quickly as possible to inhibit the wounds or hurting from worsening (National Organization for Rare Disorders, 2014). This inspector has to be extremely alert and cautious in order to sense the danger that is unknown to the affected individuals.     

References:

National Organization for Rare Disorders. (2014). Hereditary sensory and autonomic neuropathy type IV.  National Organization for Rare Disorders. Retrieved September 22, 2016 from http://rarediseases.org/rare-diseases/hereditary-sensory-and-autonomic- neuropathy-type-iv/

Huitt, W. & Hummel, J. (1997). An introduction to operant (instrumental) conditioning. Educational Psychology Interactive. Valdosta, GA: Valdosta State University. Retrieved October 10, 2016 from      http://www.edpsycinteractive.org/topics/behavior/operant.html

Who is At Risk?

HSAN IV is actually an extremely rare disease where the occurrence of it is very low. However, the prevalence of the disease is still unknown (National Organization for Rare Disorders, 2014). HSAN IV affects male and female equally and a lot of cases have been reported in Japan especially, more than any other countries. The frequency of this disease is higher in the Japanese and Israeli-Bedouin populations due to founder effect (National Organization for Rare Disorders, 2014). Founder effect occurs when a small isolated population (the founders) expands over several generations, resulting to a high prevalence of a particular genetic trait within the population. Thus, it reduces the genetic diversity within the population (Matute, 2013). Onset of the disorder is at birth (National Organization for Rare Disorders, 2014).

References:

Matute, D. R. (2013). The role of founder effects on the evolution of reproductive isolation. Journal of Evolutionary Biology, 26(11), 2299-2311. 

How to Prevent HSAN-IV?

As HSAN IV is a hereditary disease and the birth of an affected child is preventable. There are a few methods to prevent the birth of an affected individual during pregnancy. First of all, genetic counselling is mainly use to advice parents on the probability of obtaining human genetic disease in the next generation. Genetic counselling is done mainly through family survey. Through genetic counselling, medical professionals will run a genetic diagnosis, chromosome and biochemical analysis to outcome in a true diagnosis (Medline Plus, 2016). Clinical application of the main sample collection methods are chorionic puncture, amniocentesis and umbilical vein puncture.

Next, prenatal diagnosis methods such as ultrasound diagnosis, biochemical immunity, cytogenetic diagnosis and molecular genetic diagnosis are a variety of tests to check on genetic disorders when a couple is expecting or planning to have a baby. One may follow up with genetic testing before conceiving if you or your partner has a family or medical history of genetic disorders. If there is a high probability of inheriting HSAN IV, the hospital provides advice to the patient, such as stopping fertility or terminating the pregnancy (Coghlan, 2016).

For drug therapy and surgery, there is no effective means to completely cure HSAN IV. Thus, PREVENTION IS OFTEN BETTER THAN CURE. The most effective and direct way to avoid suffering from HSAN IV is to try not to have such children.

References:

Medline Plus. (2016). Genetic counselling. U.S. National Library of Medicine Website. Retrieved on October 10, 2016 from https://medlineplus.gov/geneticcounseling.html

Coghlan, C. (2016). Should you consider preconception genetic testing? The Bump Website.   Retrieved on October 10, 2016 from http://www.thebump.com/a/is-preconception-genetic-testing-right-for-you