Marfan Syndrome: A Critique on Applying Post-colonial Frameworks in Antiquity
In examination of Marfan Syndrome specifically, claims made to diagnose ancient figures such as Akhentaten can be deconstructed through a larger idea of subjectivity present in how Egyptologists draw conclusions from the representations of ancient figures in artifact. Though this retrospection is valid, how might the ways these conclusions are drawn display a level of subjectivity often not addressed in academia, and what factors influence this? How can we see similar patterns with Akhenaten and contemporary figures?
1.0 – Marfan Syndrome
Marfan Syndrome is defined as a genetic anomaly affecting connective tissues.The anomaly is defined by a mutation in the gene controlling the body’s production of fibrillin-1, the protein that makes up connective tissues. This mutation causes overproduction of another protein called transforming growth factor beta (TGF-β). The increase in TGF-β creates certain medical problems within the body associated with the diagnosis of Marfan Syndrome, as well as other related conditions.
1.1 – Frequency and Inheritance
Today, it is estimated that around 1 in 5,000 people have Marfan Syndrome and 75% of those affected inherit the mutation from a parent – hence the disorder’s classification as a genetic condition. It is also estimated that there is a 50% chance for those with Marfan Syndrome to pass it onto their children. The other 25% of those affected are “spontaneous mutations,” meaning they have no genetic predisposition to the disorder, yet develop the mutation as a result of other factors outside the genetic classification. Additionally, Marfan Syndrome has been found in several ethnic groups, and affects both sexes.
1.2 – Symptomatology
Because connective tissue exists throughout the body, there are numerous physical symptoms of Marfan Syndrome both internally and externally.
1.2.1 – Internal Complications
Internally, the main diagnostic criteria for Marfan Syndrome is also the largest cause for concern. An aortic aneurysm is defined as the enlargement of the aorta, or the main artery of the heart supplying oxygen-rich blood to the rest of the body. It can be potentially life threatening as the likelihood of a rupture in the aorta increases with its enlargement, and results in fatal bleeding.
1.2.2 – External Features
Though every person with Marfan Syndrome lives different experiences, there is a criterion of bodily features that are used as a repertoire of diagnostic tools to point to certain internal criteria such as aortic aneurysms. People with Marfan Syndrome typically have tall physiques with very long, thin limbs and fingers and flexible joints, as well as curved spines, and either concave or convex sternums. Large, flat feet and crooked “crowded” teeth are also associated features. Some with Marfan Syndrome do not develop these physical features until later in life, in which case patients with enlarged aortas may go undetected.
Much of this diagnostic criteria is not too far off from physiognomy, or the study of measuring one’s external features as a viable means for medical diagnoses.For example, a test used to differentiate those with tall, thin bodies categorical of Marfan Syndrome from those with naturally tall, thin physiques is to measure the length of the wingspan. If the patient’s wingspan is greater than their height, it is considered within the criteria of Marfan Syndrome. This is interesting to consider with means of diagnosing Marfan Syndrome, as it points to a false notion of medical advancement when in actuality, there is a subjective degree of diagnostics dependent on aspects of physiognomy.
Diagnosing Marfan Syndrome early is crucial due to the potential for heart failure, as well as the opportunity to see if the person affected is also affected by an additional linked disorder. There is subjectivity, however in the diagnostic criteria, in that it is mainly based on physical features. Tests designed to detect aortic aneurysms typically come secondary to an assessment of physical features, which endangers those who may not develop the physical features of Marfan Syndrome until later in life. This points out a latent subjectivity in medicine today – while the physical features of Marfan Syndrome very much so categorize the genetic mutation, those who don’t express them within what has been predetermined as the body of a patient with Marfan Syndrome fall through the cracks.
2.0 – Akhenaten
Akhenaten is a frequently discussed pharaoh for many reasons. He desired to shift traditional Egyptian religion in the Amarna period (1353-1336 BCE) from polytheism to a centralized worship of Aten, the deity of the Sun Akhetaten considered to be the “god of all gods.”Not to be confused with monotheism, Akhetaten’s focus on Aten is reflected in his own rule, where he considered himself “king of all kings.”This religious shift is marked as Akhetaten’s placement as “…in theory, the only Egyptian who could serve as a link between the people and their gods.” which stands in stark opposition to Ahketaten’s predecessor Amanhotep III, who reflects the pre-Amarna religious ideology of the king’s position as a spokesperson of the gods, not the sole representation of the gods.
In what is referenced as “amarna heresy,” Akhetaten is known as the heretic king for the cheap construction of Amarna and radical religious views. Within aforementioned changes in the Amarna period, artistic representation changes as well, which can be seen in comparison of Akhetaten’s relief statues.
Endocrinologists study Akhenaten’s “chubby” physique as indication of diseases in the gynecomastia (male breasts) family, pointing to Kennedy’s disease and fertile eunuch syndrome (fig 1).
Kennedy’s disease (spinal bulbar muscular atrophy or SBMA) is a mutation of a gene controlling motor neurons, and can be seen through symptoms such as gynecomastia and hypoandrogenism. This is an assumed potential diagnosis analyzed by endocrinologists who point to Akhenaten’s rounder stomach and breasts as indicators for such symptomatology.
Fertile eunuch syndrome is another genetic mutation noted as a cause for hypogonadism and spermatogenesis (low sperm count) based on hormone deficiency. This diagnosis was deduced from the perceived hormone deficiency that would manifest in Akhenaten’s more androgynously female-sexed bodily representation, however, was ruled out at he produced 6 children, which is statistically impossible given spermatogenesis.
Alwyn Burridge, an Egyptologist from the University of Toronto, believes that the “correct” diagnosis of Akhenaten is Marfan syndrome based on the shape of his skull seen in art from the Amarna period. (fig 2)
More specificities for the diagnostic criteria of Marfan Syndrome can be seen on the face, through an “elongated skull, jutting chin, slit-like eyes, and protruding ears.”
Seen below is a comparison of two two-dimensional illustrations of skull shapes that supposedly prove this diagnosis. Based on the symptomatology that Egyptologists infer from the representation of Akhentaten, impotency rules out previous diagnoses of Kennedy’s Syndrome and Fertile eunuch syndrome and, through this omission, is believed to support Marfan Syndrome. Burridge also leans toward this diagnosis due to the artistic shift of the Amarna period (fig 3 – Thutmose III bronze statue).
Such a dramatic shift leads Egyptologists and geneticists to believe that Akhenaten might be the first case of Marfan Syndrome in history.
These diagnoses, while not impossible, should be “taken with a grain of salt,” as the colloquialism goes – specifically when considering the history of these illnesses and how their diagnostic criteria are all based on the assumption of what the normal “healthy” body looks like. Proper consideration should
be made with respect not only to different cultures’ aesthetics of “health,” but also the notion that the idea of health having an aesthetic in the first place is a contemporary notion that might not extend into pre-modern contexts.
3.0 – Contemporary Figures
With further analysis into flaws within diagnosing genetic anomalies based solely on artistic representations of pre-modern royalty in Egypt, a similar application can be seen with both modern and contemporary figures.
3.1 – Abraham Lincoln
In addition to his reputation for abolishing slavery under his presidency, Abraham Lincoln is rumored to have Marfan Syndrome based on his physique and genetic predisposition.
British doctors Arvind C. Mehta and L. Dawson-Butterworth reported in the British Medical Journal (1961) that “over a period of almost 20 years, I have accumulated a great amount of evidence that points to his (Lincoln’s) mother and the Hanks line as transmitters of the Marfan gene.” This data was not published in the journal, and there is no accessible online record of Mehta and Dawson-Butterworth’s findings as DNA evidence conclusively linked to Lincoln and his family. Yet, the potential diagnosis was still published in the journal, validating the still unconfirmed identity of the evidence supposedly implicating Lincoln’s maternal lineage as carriers for the gene.
Thirty years later, Ian Young, a clinical geneticist at the City hospital in Nottingham did a consultation on the matter of Lincoln’s Marfan Syndrome in the same medical journal. He believes that “Ultimately, the discovery of the underlying basic genetic and protein defect must raise hope for the development of more effective therapeutic strategies…If attempts to identify a mutation in blood stains, bone, and hair from Abraham Lincoln are successful then the medical historians can justly take pride in their diagnostic acumen.” 
Young goes on to point out the very subjectivity of these medical historians’ Marfan diagnosis for Lincoln, alluding to Lincoln’s tall, thin physique, long face and spindly fingers as the identifying features which launched investigations of such claims.
3.2 – Bradford Cox
Bradford Cox (b. 1982) is an American singer-songwriter who is both the guitarist and lead singer of indie rock band Deerhunter, and the artist behind solo project Atlas Sound. At the beginning of his career, Cox responded to initial questions of his health raised by his extremely tall, skinny frame with candor about his Marfan Syndrome.
In an interview for Out Magazine, journalist Mitchell Kuga describes cox as “…exceedingly lanky, a byproduct of Marfan Syndrome.” 
There are such articles titled “Is Bradford Cox a Skinny Gay Anorexic Asexual Virgin?”[13 ]that, while joking about the nature of which celebrities with what are considered atypical body types are diagnoses, supports a fetishization of trying to apply half-theorized medical interpretations onto celebrities in the public eye.
Cox speaks freely of his diagnosis, however in the larger conversation of why his body looks the way it does, his Marfan Syndrome functions as a medical reasoning behind what people would quietly assume was severe anorexia had he chosen to keep the innerworkings of his illness to himself, which is within his own autonomy.
3.4 – Michael Phelps
Veteran Olympic swimmer Michael Phelps is also among the list of public figures affected by this assessment of bodies in the public sphere as indicative of potential illnesses.
Michael Phelps has re-entered dinner table conversation in comparison to Olympic gold medalist Caster Semenya, who recently told that due to a natural condition called hyperandrogenism causing her body to produce heightened amounts of testosterone, she may only compete with men in the next Olympics. The reasoning behind this comes from the idea that Semenya has an “unfair genetic advantage,” which is in direct opposition to a similar conversation surrounding Michael Phelps in 2008.
In Phelps’ book, Michael Phelps: Beneath the Surface, he describes how an abnormally accelerating heart rate led to a diagnosis placing him on the spectrum of Marfan Syndrome. He describes the tests he underwent, saying “…I had some early symptoms of Marfan Syndrome…if you reach your arms out and forma T and your wingspan is longer than your height, you can be at risk. In my case, those measurements have always been very close.”
After a successful 2008 Olympics, sports physicians around the world heralded Michael Phelps’ genetics as a “gift,” – his long wingspan, convex chest and large hands and feet are aspects of his partial Marfan diagnosis that benefit him as a swimmer.
Meanwhile, Semenya will either have to undergo estrogen balancing treatment to compete with women in the Olympics, or compete with men given her natural hyperandrogenism.
Michael Phelps’ case presents a meta-approach toward the idea that certain bodies are considered normal, or “gifted,” and diagnoses can even help them in sports arenas. However, the key question that is posed with diagnosing modern and contemporary figures is one of representation, and the politics of which play out in the assignation of diagnoses as beneficial or unfair based on whose body is called into question.
4.0 – The Politics of Representation
With consideration to Akhenaten, medical historians apply a postcolonial narrative of illness onto his body to explain a marked shift in artistic representation in the Amarna period. Essentially, these historians project their own expertise of rare genetic disorders onto pre-modern figures such as Akhenaten to explain what they cannot concretely describe his body – the notion that he must have been ill with a rare mutation assumes the naturalization of the very recent and still expanding research on Marfan Syndrome. The syndrome itself doesn’t have any records before the late nineteenth century when pediatrician Antoine Marfan first recorded the physical features of the mutation after studying a young patient, and the TGF-β gene wasn’t even identified as the locus of the mutation until 1991 .
A great deal of the mystique surrounding whether or not Akhenaten was actually sick is based on an idea of portraiture of royalty as serving the main purpose of mimesis, which is an idea born out of the Renaissance to describe Western art. Winter and Howley tease out the hegemonic impetus behind the assumptions used to diagnose Akhenaten, as hidden projections of postcolonial framework onto pre-modern figures as a reflection of the idea that post-modern Western advents in modern medicine are a kind of absolute truth that was discovered, rather than partially constructed by those who discovered them.
4.1 – Office of Kingship
Author Irene J. Winter outlines a “king” and the “office of kingship,” presenting a key difference in ancient linguistics that addresses a problem in how we interpret artifacts.
Winter describes the subjectivity in portraiture through Akkadian languages. The Akkadian word for “king” is šarru, while šarrūtu means “kingship.” This distinction is crucial to her, in the sense that “The ruler’s appearance, then, declared to have been molded by the gods in order to make him recognizable as one fit to rule, suggests that his ‘ideal’ qualities were paramount, not the realia consistent with modern notions of portraiture. In the representation, in addition to those signature elements marking the physiognomy, there would also have been signs external to the person: headgear, clothing, accoutrements.”
In analyzing Naram-Sin’s appearance, Winter approaches the stylings in which he is constructed as neither accurate nor inaccurate to how he is projected to have “actually” looked, as his position as a king define a separate embodiment of his role in addition to his personhood. To use her own words, “That we are presented within the image of the kind ‘in his office of kingship’ is a semiotic, rather than a mimetic, representation.”
This argument can be used to deconstruct the ways in which Akhenaten is diagnosed – it is assumed by such Egyptologists as Burridge that the purpose of his representation through art had the goal of mimesis, where the example of Naram-Sin and the Akkadian languages differentiating “king” and “kingship” suggest that perhaps the purpose was one of constructing an image of the king with the purpose of establishing a dignified office.
4.2 – Power Relations and the Adoption of Foreign Material Culture
Cambridge scholar Kathryn Howley answers the question of where this assumption of mimesis comes from implicitly posed by Winter’s distinction by comparing the Nubian and Egyptian shabti. Whether there is a distinct or completely unique meaning of the Nubian shabtito the Egyptian one is an unknown – yet, scholars frequently assign the shabtithe title of an “Egyptianizing” object to Nubians.There is an alarming Western projection from scholars who adopt this ideology and apply it to this time period in Africa, where they assume a colonial framework parallel to that of Anglo-Saxon colonialism in the pre-modern era was present between Egyptians and Nubians though they are completely different time periods.
Howley positions her stance with the following question: “Does the postcolonial standpoint in which the Kushites subvert the norms of Egyptian material culture to assert their indigenous identity, better explain the use of Egyptian objects in Kush?”
She answers this question by addressing the limited perspective of those Egyptologists making such grand assumptions about ancient peoples through their own experience in the post-modern world. In the case of the shabti, she points out how “it is problematic to use a postcolonial framework to understand a form of culture contact, that, by the first millennium BCE, was demonstrably non-colonial.”
To Howley, there is merit to the application of postcolonial frameworks as a perspective in understanding pre-modern relationships, but within the power of this tool lies the danger of projecting postcolonial narratives onto cultures who show no indication of having interacted in such ways.
The idea that Akhenaten has Marfan Syndrome based on the history of the mutation and cultural shifts in the Amarna period in tandem with ideas of representation politics point to an issue in how pre-modern periods are analyzed. There is proof that deconstructs the notion that Akhenaten was afflicted from Marfan Syndrome, and a certain postcolonial cognitive dissonance lies in the insistence that this diagnosis is viable in the face of evidence proving otherwise. Celebrity examples compared to Akhenaten’s own diagnosis address an important aspect of representation, and how bodies are legitimized through their definition as symptomatically ill, or representative of a “normal” body type.
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