“TREATMENT” OF AN IDENTITY: An Exploration of Achondroplasia Through a Surgical Lens

Imagine a characteristic important to you was taken away. How would you feel? With new scientific innovations, researchers have been able to “correct” certain genetic mutations. In the context of Achondroplasia, patients are able to receive limb-lengthening surgeries that enable them to become about 3-4 inches taller. Although one may initially think that this procedure would be ideal, it begs the question is this taking something away from their identity as a person with dwarfism? Achondroplasia is a genetic condition. Just because an aspect of your physical identity is no longer associated with your genetic identity, does this mean your identity as a whole is different?This paper will explain what an identity is and how a condition like achondroplasia can affect it. Additional information on Achondroplasia, as well as various treatment procedures will be provided. The ethical values that will be elaborated on include beneficence, fairness and autonomy. The paper will ultimately explore achondroplasia through surgical means. It will answer the question: Are people altering their identity when they alter their appearance?


 

ABSTRACT

With a limb-lengthening treatment brochure in your hand, sitting alone in the doctor’s office you stand up and you look at yourself in the mirror. You repeatedly ask yourself, “Why me?” No one answers your question. This question that you have been asking yourself for your entire life has never been answered. You were born with achondroplasia- a form of short-limbed dwarfism that makes many activities more difficult than from an average height person. Since the day you came out of the delivery room, the nurses looked at you with empathy. The first day of school jitters and excitement always ended with the up-down look from all of your classmates. All of this could potentially be changed with one form of treatment. Now that it is available to you, you are not sure if you would want to alter this huge part of your identity. No matter how much of an outcast you may have ever felt coming from social stigmas, you still consider having this condition as a part of you, your being and your sense of self. Is altering your physical appearance altering your genetic identity?

This paper will explain what an identity is and how a chronic disease like achondroplasia can affect that identity. The concept of an identity will be presented and information on the idea of nature v.s. nurture will be portrayed to support it. Background information on achondroplasia, including physical treatment options will be explained to provide a better understanding. A story from an individual who has successfully gone through with the limb-lengthening surgery will be presented to provide the reader with a more relatable scenario. It will be analyzed thoroughly to present varying positions, values and views. The ethical principles discussed will include beneficence and equality. The influence of treatment on an individual’s identity will be explained as well. The paper will ultimately explore achondroplasia through surgical means. It will answer the question: Are people altering their identity when they alter their appearance?

IDENTITY

An identity, as simply defined by Merriam-Webster, is “[a group of ] qualities, beliefs etc. that make a particular person or group different from others.” However, dictionary definitions fail to capture the meanings in the context of everyday life and social science contexts.

an “identity” refer to either (a) a social category…or (b) socially distinguishing features that a person takes a special pride… (or (a) and (b) at once). (Fearon, James D. “What is identity (as we now use the word).” Unpublished manuscript, Stanford University, Stanford, Calif (1999).

There are two main parts to the concept of identity: a “social” and “personal” category. As stated by James D. Fearon in “What is identity (as we now use the word).”,

“…an “identity” refers simply to a social category, a set of persons marked by a label and distinguished by rules deciding membership and (alleged) characteristic features or attributes. In the second sense of personal identity, an identity is some distinguishing characteristic (or characteristics) that a person takes a special pride in or views as socially consequential but more-or-less unchangeable.”

The concept of nature v.s. nuture applies and goes hand-in-hand with the idea. The “social” aspect goes along with nurture, and the “personal” aspect goes along with nature. The nature aspect states that a person’s identity is predisposed in their DNA. The nurture aspect states that a person’s identity is largely impacted by life experiences and various environments. DNA has no direct impact on the environmental factors relating to identity.

…the environment is independent of the organism. It is something imposed on the organism from the outside, like an electrical shock applied to the paw of a mouse. This view allows no role for DNA, because the organism has nothing to do with the environment that impinges on it. (Plomin, R., & Bergeman, C. (1991). Nature and nurture. Behavioral and Brain Sciences, 14(3), 414-427. doi:10.1017/S0140525X00070588)

Personally, I believe an identity is more than a genetically rooted idea in that part of one’s identity is up to personal choice, experiences, culture and different environments. Categories of what a person may consider to be part of their identity include race, gender, religion, sexual orientation, language, ethnicity, age, class and ability/disability. For example, I am a Taiwanese girl, and that is something one can determine from having a blood sample. My DNA will show that I am X percent Taiwanese and my chromosomes would show my biological sex. In addition, I am Christian. However, this would be an example of a nurture aspect of my identity that is up to personal choice and the environments that I surround myself in. A large and relevant aspect of one’s identity lies in the chronic diseases and/or conditions that are present due to their genetics. As mentioned above, nature refers to your genetics. The chronic conditions are predisposed in your DNA. Issues regarding identity are important to elaborate on today because the society that we live in is a constantly evolving one full of new ideas and issues. People feel very strongly about their identity and it affects their relationship with other people. It determines how individuals make decisions, how they are influenced and what daily life for an individual is like. These issues are relevant in many different fields, and especially in the bioethics field. An example of a condition that is “nature induced” and contributes to identity is achondroplasia. Achondroplasia is caused by a genetic mutation in a specific gene. Both nature and nurture can have direct impacts on the parts of identity related to chronic conditions.

ACHONDROPLASIA

A chronic disease that largely impacts one’s identity through genetics is Achondroplasia. Achondroplasia, although a rare, congenital disease, is the most common form of short-limbed dwarfism. From a study done in 2008 by the Centers for Disease Control and Prevention, “the prevalence of achondroplasia ranged from .36 to .60 per 10,000 live births” (“The population‐based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US.” American Journal of Medical Genetics Part A 146.18 (2008): 2385-2389). The word literally means “without cartilage formation.” Sometimes cases of achondroplasia are hereditary, but most scenarios are caused by spontaneous genetic mutations in the FGFR3 gene. This mutation is inherited through an autosomal dominant pattern, meaning that only one parent needs to pass down the defective gene for their offspring to have a case of achondroplasia. During the developmental stage of a fetus, much of one’s skeleton is cartilage. In a child without achondroplasia, the cartilage will convert to bone. Having this mutation interferes with normal skeletal development and a large majority of the cartilage will not convert to bone.

A person with achondroplasia will typically have short arms and legs, an enlarged head, an average-sized trunk, and limited elbow extension. In addition, many individuals have spinal stenosis. This condition occurs when a lot of pressure is put on the spinal cords and the nerves within the spine. This occurs most commonly in the neck and lower back. To add on, most people will overtime develop bowed legs- a condition stating that one’s knees stay wide apart even though the ankles are close together. This is known to lead to arthritis in the knees and hips and results in pain and weakness in the legs that can make walking difficult for one with achondroplasia. For infants born with this condition, they usually have hypotonia- weak muscle tone. Because of this, many young children have delays in learning how to walk and other motor skills. In addition, the compression of the spinal cord caused by human growth that occurs faster than the growth of one’s bones, increases the risk of death during infancy. Eventually, this may lead to neurological deficits. The average height of an adult male is 4 ft. 4 in. while the average height of an adult female is 4 ft. 1 in. (https://ghr.nlm.nih.gov/condition/achondroplasia)

STAKEHOLDERS

Stakeholders are people relevant within a certain issue. The stakeholders of this discussion include the patient, the doctor conducting the surgery, the family members of the patient, others who have similar conditions, and anyone that the patient will encounter. The patient is the principal stakeholder because they are the ones receiving medical attention for this issue. They ultimately are the one’s making the decisions and the one’s who will be suffering through the multiple procedures. The doctor’s relevant in the patient’s life are important because they can be a contributing factor to the decision making process. In addition, the specific doctor actually performing the procedure is significant because these procedures do not just happen once. They take numerous days of healing and separate surgeries based on your desired height. Another contributing factor to the decision making process are the family members of the patient. Usually, the procedures are done at around the preteen age level. Technically speaking, the patient themself does not have all authority to make this decision if below the age of 18. The family members then are responsible for the final decision. In most cases, the family’s decision corresponds with what the child aspires. But, if the family decides against what the child wants, it can be detrimental to the rest of the patient’s life. If 18 or above, the family members still play an active role. No matter the age, the family members still witness the long, draining recovery process. To add on, there are financial applications to these procedures. People who are capable of going through procedures like these have them more readily available to them. However, money is not the only factor playing into why or why not an individual chooses to go through with the procedure. The Little People of America Advocacy group has an official stand against the procedure. They warn individuals of having the risks of long-term nerve and vascular damage (http://www.nbcnews.com/id/4242093/ns/health-cosmetic_surgery/t/limb-lengthening-tests-human-willpower/, http://www.lpaonline.org/ell-position-statement). For one who goes through with the procedure, others in the dwarf community may respond differently to them based on their views of the procedure. It may even create a notion where society believes that everyone in the dwarf community thinks they should get the correction procedures, or vice versa. Lastly, anyone that the patient encounters in their lifetime, either dominantly or not, has an effect on the patient’s life. In a negative light, they can be the contributing factor to social stigmas. In a positive light, they can be supportive individuals and sources of reliability.

VALUES

Beneficence and Limb-Lengthening Procedures

Beneficence is the concept that implies acts of kindness, altruism, and doing good. To allow themselves to live the best life, people with achondroplasia will sometimes choose to go through with some form of physical treatment. These options can occur on a wide range. They can be as moderate as physical therapy or they can be as drastic as limb-lengthening surgeries. This section intends to elaborate on two Limb Lengthening Procedures currently available. Even though the specific statistics of the number of people who have gone through with the procedures are unknown, these procedures are very rare and also very controversial. They are so controversial because it is a grueling and painful process. It also alters one’s identity drastically. In some eyes, maybe a little too much. To add on, majority of the patients going through with these procedures are children ranging from the ages of 10 to 18. If an individual chooses to go through with any form of treatment, it will directly influence their identity. With physical forms of treatment, specifically one’s physical outlook, ability/disability, and class is affected. Aside from the example of Achondroplasia, in the case of Vitiligo, going through with physical treatment affects the individual’s identity as well. Vitiligo is a condition that causes the loss of skin color in blotches. If one went through laser treatment to rid their appearance of the splotches, the image that they portray does not necessarily imply that they have a skin condition. Even though vitiligo is not necessarily a painful and life threatening condition, when compared to Achondroplasia, the forms of physical treatment in regards to both conditions either mask or alter a physical component of the individual. Physical treatments have a large impact on one’s identity. It directly affects one’s physical characteristics in the addition of a couple inches to one’s height. It also directly influences their ability. With added height, it can either elevate or lower their abilities. Indirectly, their socioeconomic identity affects the individual as well. One who is in a higher social class may have these procedures more readily available to them. Therefore, if one is capable of going through with procedures like these, it can either positively or negatively impact their placement in a societal hierarchy. Their class also affects their access to treatment.

The most standard option available today has no other name but a Limb Lengthening Procedure. First, the bone that is desired to be lengthened is cut. Then, metal pins and screws are placed through the skin and into the bone at various positions along the bone. Stitches are then used to close the previous wound. A metal device called a fixator will be attached to the pins and will be used later to slowly pull the cut bone apart to create a space between the ends of the cut bone. This empty space will eventually fill in with new bone. After the actual surgery, a lot of physical therapy is needed. Each centimeter of aspired height takes about 36 days of healing. But for some people with the disease, the long enduring pain is worth the 5-7 inches of growth. However, with every pro, there is a con. There are numerous complications that may occur either prior or during the surgery. Once of which is nerve injury. Nerve injury can occur either temporarily or permanently. To add, infections of the wounds can cause future surgeries and intense pain. Angulation (an abnormal bend or curve in a bone) can occur if not properly recovered. There is also a chance of having unequal limb lengths, which can be worse than not going with any procedure at all. This can result in not only a waste of money, but a “wasted” period of detrimental pain and recovery. Lastly, there is also an increased rate for late onset osteoarthritis. Osteoarthritis occurs when the protective tissue at the ends of the bone wears down. Having the condition already entails a higher rate of having osteoarthritis, but going through with surgery to correct the length of one’s limbs may result to an even higher rate. Aside from surgical complications, the correction of one’s limbs has con identity implications. This procedure not only adds height to their persona, but physical symptoms -such as bowed legs- that are directly related to a dwarf identity are corrected. This “erases” the prevalence of the condition for the individual.

Another treatment option available is called the Ilizarov Apparatus. This treatment was originally created by Russian doctor Dr. Gavril Ilizarov and intended to stabilize extreme fractures of the bone. However, he realized that this procedure could also be utilized to lengthen a limb. This procedure was brought to North America by Dr. Dror Paley. Later on, Dr. Paley incorporated this technique into his limb lengthening institution: the Paley Institute. With this procedure, a metal rod of a fixed length is inserted into the bone. The rod expands inside the bone and it is held in place by two screws at the top and bottom of the bone that is to be lengthened. After the insertion of this rod, doctors will use a machine that sends magnetic energy and causes the gears inside the rod to stretch. After the surgery, the rest of the procedure never penetrates the skin, and physical therapy is not required. However, with this technique, it is only available for adults and not children. Children are not fully complete with their growth process, so doctors have concluded that it is best for an insertion of a fixed rod into a bone of a fully developed adult.

In the context of Achondroplasia and the Limb-Lengthening Procedures, beneficence is an ethical value that brings up significant arguments, as well as counterarguments. One argument that is relevant is that going through with the limb-lengthening procedures ceases pain for the patient. Of course, the procedures are very painful processes, but it affects not only emotional stigmas but also pain that comes with just having the condition in the first place. Another argument in support of the procedures is that it enhances the patient’s quality of life. Having a couple more inches in height can allow them to live their best possible life in a society where short stature is strenuous. Some may argue that the addition of just a couple inches of height cannot be life changing.

Christy Ruhe, a girl from Pickerington, Ohio went through with the surgery. Once 4-foot-3, she is now just 2 inches shy of 5 feet tall. This is her story.

“The tiny, silver BMW roadster slides out of the garage and zips toward the freeway. Christy Ruhe adjusts the rearview mirror and rests on hand on the steering wheel. The car, her dad’s, is a perfect fit. She looks like she’s been driving it forever. Two years ago, she couldn’t have reached the pedals. Christy recently finished a procedure that surgically broke her bowed legs, then stretched and straightened them, an agonizingly painful ordeal that would leave even her questioning how much she could endure. Once 4-foot-3, she’s now just 2 inches shy of 5 feet tall. She had always craved just a few more inches. Enough to drive any car and pump her own gas, or reach the pedals under the piano. Practical things, but seven inches would accomplish so much more. To understand why Christy would put herself through the grueling surgeries and therapy is to understand a spirit determined to be as independent as possible. Christy was born with achondroplasia, one of 200 forms of dwarfism. Her arms grew in proportion to her torso, but her little legs were severely bowed. But the more she grew,, the more stubborn her legs became- always bending outward.Limb lengthening might help straighten her legs, her pediatric orthopedic surgeon acknowledged, but he discouraged the idea. “His reasoning was: ‘Why would you want to put yourself through that?’” But Christy, who lives in Pickerington, near Columbus, couldn’t get the idea out of her head. Everything she did reminded her of the limitations of being 4 foot 3 in a world where most adults are a foot taller. Her parents are not dwarfs, neither is willowy older sister Erin, John and Rita Ruhe nurtured their daughter’s independence. Yet outside the Ruhe house, Christy would learn about alienation. Strangers would stare. Her legs were weak, and on walking trips, she lagged behind. “I always felt like, why do I have to explain this? Why do I even care what they’re saying?” she says. “I did, of course. It’s impossible not to” (NBC News, “Limb Lengthening Tests Human Willpower.”).

Using Christy’s story as an example, specific quotes can be used to support these surgical procedures. Christy explains the struggles of being abnormally short in our society. “I always felt like, why do I have to explain this? Why do I even care what they’re saying? I did, of course. It’s impossible not to.” Going through with this procedure allowed her to feel like a contributing individual in our constantly evolving society. To add on, Christy mentions her ability in being capable of driving. Adding a couple inches to her height provides an enhancement in that she is able to participate in substantial activities that most “standard” individuals look forward to doing.

Of course with arguments, there are several counterarguments in opposition to the surgical procedures under the value of beneficence. First, there is a lack of embracement for the individual’s “genetic self.” If one were to go through with the surgery, they would never really have the capability of embracing their genetic identity, because the physical characteristics that are coded for in their DNA are never fully expressed. The genetic identity implies characteristics of an individual that is coded for in one’s DNA and cannot be naturally altered after birth. This concept of a genetic identity is important and relevant because many aspects of one’s physical identity is determined by their genetic identity. A person might feel so strongly about this genetic identity to want to turn down a procedure to preserve an ancestral vision or characteristic that ties them to a group of people. However, one does not have a duty to be true to their genetic self. How one decides to represent him or herself in society is up to the individual. In an example aside from Achondroplasia, gender is an aspect of identity that is strictly up to the individual’s decisions. If they are born in the genetic predisposition of being a male, that does not necessarily mean that they have to stay a male for the rest of their life if that is something that they have objections to. Through optional but available surgeries, the individual is capable of going through physical treatment to alter their genetic self. There is nothing wrong with changing an identity. Having Achondroplasia is part of the patient’s genetic identity because the condition is something that is coded in DNA. Abnormally short stature is an aspect of physical identity that would not necessarily be prevalent without the mutated FGFR3 gene. The correction of an individual’s physical self goes hand in hand in how it affect one’s genetic self. Like stated before, the physical alterations mask the genetic identity. Through the corrections, the genetic identity is not expressed. Therefore, that identity really no longer exists. Specifically, if an individual has a genetic mutation for achondroplasia and they have gone through multiple procedures to correct this, the only people that will know about the condition are the people who know their genetic identity. Physical treatments mask one’s genetic self and it modifies what their genetics have set for them to be.

Another counterargument is that there are various financial and emotional strains on the family. These procedures are not widely available, and it is very difficult to see a loved one is such a painful situation. And like previously mentioned, there is a rigorously painful and long recovery. An individual who has gone through with the procedure has stated, “It will feel like life stops for however long you are recovering.” Beneficence is relevant in this discussion because the arguments all affect identity in some way. For the two arguments, it states that going through with procedures such as these will allow the individual to be free of traces of Achondroplasia. With the counterargument stating that there is a lack of the person’s “genetic self”, that comments on the concept of an individual’s genetic identity. The financial and emotional strains aspect comments on socioeconomic and family identity while the painful and long recovery counterargument comment on physical identity.

Equality and the Results of Surgery

In the case of Achondroplasia and the Limb-Lengthening Procedures, equality can be relevant between two similar people, two different people, and many other aspects of the ethical discussion. The principle of equality regards arguments relating to the results of an individual going through with physical treatment. This may contribute to the reasons as to why or why not someone would go through with altering their physical appearance. One argument in support of the procedures regarding the value of equality is that it levels the playing field. With the surgery, individuals with Achondroplasia are capable of competing alongside others without the condition. Achondroplasia will no longer be something that holds them back from fear of inequality. Another argument is that the procedure provides the best chance for the patient. With “close to normal” height, this allows the individual to live life to the fullest in a more facile way. They will have the opportunity to take part in similar opportunities to those with standard height.

As for counterarguments, going through procedures like these limits diversity. If everyone with a disability was capable of “correcting” their condition to fit the norm, then the diversity of the people of our society would diminish. Diversity is something that is prominent to our evolving society today. But, these individuals also do not owe society diversity. If anything, society should do people of diverse backgrounds a favor by ridding the idea of  “the norm.” In addition, the procedure provides an advantage upon others with Achondroplasia. Even though the individual’s physical identity is different, genetically, the people with corrected limbs will still be compared to others without corrected limbs. Having the extra couple of inches will allow more opportunities for one with Achondroplasia among the individual’s peers with the same condition. In Christy Ruhe’s case, it allowed her to drive, and play the piano. These activities are not necessarily things that others in her dwarf community are able to do with short stature. Equality is a relevant value because the arguments relate to the creation of an alternate identity. This can either make these people susceptible to be alongside people of normal stature or they can completely “become one” and blend into a society of normal stature.  Leveling the playing field implies that aspects of the condition are diminished to fit the societal norm. In order for these procedures to provide the best chance for the individual, it suggests that an aspect of their physical identity is altered. For the counterargument about limiting diversity, it directly impacts identity because diversity is rooted in the differences of identity. In relation to the last counterargument about providing advantages among others with similar conditions, it relates to identity as well because the different (or similar) identities are being compared.

CONCLUSION

Does modifying an individual’s physical appearance alter their identity? To what extent should one go to alter themselves in order to “fit society’s expectations” or “blend in with the norm?” And although not everyone aspires to be in line with what society demands, are the correction procedures even ethically permissible?  When going about questions such as these, it is important to understand the concept of identity, what it entails, and how it affects the people of our society. Specifically in regards to the Limb-Lengthening Procedures, it is also very important to understand what the condition Achondroplasia is, how it impacts someone with the condition, and how the Limb-Lengthening procedures work. Personally, like previously mentioned, aspects of your identity can come from nurture induced factors. An identity is more than what is in your genes.

This issue will always be a never-ending conversation that will bring up many future points. But for now, ideas for potential solutions can be brainstormed. If a group of people, such as an advocacy group, or an individual are for the treatment, they can spread more awareness to the situation and provide more personal stories and case studies. These are beneficial to inform people on the pro’s of treatment and the overall process. Likewise, if groups of people are against the treatment, advocacy groups can spread awareness as to why the treatment is not logical. More case studies and personal stories should be shared.

I also believe that it is important to make our society more accessible for people with disabilities. Before her limb-lengthening, Christy was able to function in society, but she experienced barriers that made it more difficult. Her desire to drive a car, play the piano and be free from social stigmas are all society driven aspects. If we can change our society to make daily life easier for people of abnormally short stature, more people will not feel obligated to have to alter themselves. An example is either creating extensions that people can attach to cars or specialized cars so that the individual can reach the brakes. If they still wish to go through with surgery however, that is definitely still available for those people.

My topic has much more to look into and I have many further questions that I would like to delve into. Like previously mentioned, achondroplasia is directly influenced through the “nature” aspect of “nature v.s. nurture” because it is a genetic condition. I would like to conduct more research on chronic conditions directly influenced by “nurture” and juxtapose the two. I would like to see how different the condition would be, how differently it would affect the individual in society, and if treatment options would be available for alterations. To expand off of the ethical values, I would like to see how the value of autonomy plays into the scenario. Another aspect of my research that I wish I had spent more time on was understanding the patient from an emotional standpoint. I read articles and stories but I would have really liked the chance to speak to a person who had first-hand experience with either Achondroplasia as a condition or even a limb-lengthening procedure. This is something I am still reaching out for and looking at but this is an important aspect that I wish to complete. Achondroplasia is one of millions of chronic conditions relevant in our society today. Aside from this, I would like to understand other conditions, such as down syndrome, autism, deafness, blindness, vitiligo, and how those conditions differ or relate to the arguments present in the case of Achondroplasia. I would like to see how other conditions without prevalent physical effects would be related or differ as well. These can include conditions such as particular cancers, asthma, and stress.

I believe that an individual should be capable of making decisions for themselves. In correspondence to the Limb-Lengthening procedures, how one changes their physical appearance should be up to the individual because it affects their own physical identity. If an individual wishes to alter their physical appearance in this way, I think it is their own personal decision, no matter how controversial the treatment is.We should respect the decisions made by people concerning their own lives. There are still limits to this conclusion, however. When we talk about the ability for a “competent” individual to make decisions, it is a slippery slope and different for various situations. In the context of this discussion, it focused on the procedures in relation to an adult; meaning one who is over the age of 18. However, if I looked at the situation from a child who is not necessarily competent to make decisions such as these, it would bring up a whole other set of arguments and issues. Therefore, I believe we should respect the decisions made by “competent” people in the context of the associated situation.

By Elynn Chang

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